#version 2.4 ## ## Oncotator v1.5.3.0 | Flat File Reference hg19 | GENCODE v19 CANONICAL | UniProt_AAxform 2014_12 | ESP 6500SI-V2 | dbSNP build 134 | COSMIC v62_291112 | 1000Genome phase1 | dbNSFP v2.4 | ESP 6500SI-V2 | ClinVar 12.03.20 | ORegAnno UCSC Track | CCLE_By_GP 09292010 | UniProt_AA 2014_12 | Ensembl ICGC MUCOPA | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | 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 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 1000Genome_AA 1000Genome_AC 1000Genome_AF 1000Genome_AFR_AF 1000Genome_AMR_AF 1000Genome_AN 1000Genome_ASN_AF 1000Genome_AVGPOST 1000Genome_CIEND 1000Genome_CIPOS 1000Genome_END 1000Genome_ERATE 1000Genome_EUR_AF 1000Genome_HOMLEN 1000Genome_HOMSEQ 1000Genome_LDAF 1000Genome_RSQ 1000Genome_SNPSOURCE 1000Genome_SVLEN 1000Genome_SVTYPE 1000Genome_THETA 1000Genome_VT ACHILLES_Lineage_Results_Top_Genes CGC_Cancer Germline Mut CGC_Cancer Molecular Genetics CGC_Cancer Somatic Mut CGC_Cancer Syndrome CGC_Chr CGC_Chr Band CGC_GeneID CGC_Name CGC_Other Germline Mut CGC_Tissue Type COSMIC_n_overlapping_mutations COSMIC_overlapping_mutation_descriptions COSMIC_overlapping_primary_sites ClinVar_ASSEMBLY ClinVar_HGMD_ID ClinVar_SYM ClinVar_TYPE ClinVar_rs ESP_AA ESP_AAC ESP_AA_AC ESP_AA_AGE ESP_AA_GTC ESP_AvgAAsampleReadDepth ESP_AvgEAsampleReadDepth ESP_AvgSampleReadDepth ESP_CA ESP_CDP ESP_CG ESP_CP ESP_Chromosome ESP_DBSNP ESP_DP ESP_EA_AC ESP_EA_AGE ESP_EA_GTC ESP_EXOME_CHIP ESP_FG ESP_GL ESP_GM ESP_GS ESP_GTC ESP_GTS ESP_GWAS_PUBMED ESP_MAF ESP_PH ESP_PP ESP_Position ESP_TAC ESP_TotalAAsamplesCovered ESP_TotalEAsamplesCovered ESP_TotalSamplesCovered Ensembl_so_accession Ensembl_so_term Familial_Cancer_Genes_Reference Familial_Cancer_Genes_Synonym HGNC_Accession Numbers HGNC_CCDS IDs HGNC_Chromosome HGNC_Date Modified HGNC_Date Name Changed HGNC_Date Symbol Changed HGNC_Ensembl Gene ID HGNC_Ensembl ID(supplied by Ensembl) HGNC_Entrez Gene ID HGNC_Entrez Gene ID(supplied by NCBI) HGNC_Enzyme IDs HGNC_Gene family description HGNC_HGNC ID HGNC_Locus Group HGNC_Locus Type HGNC_Name Synonyms HGNC_OMIM ID(supplied by NCBI) HGNC_Previous Names HGNC_Previous Symbols HGNC_Primary IDs HGNC_Pubmed IDs HGNC_Record Type HGNC_RefSeq IDs HGNC_RefSeq(supplied by NCBI) HGNC_Secondary IDs HGNC_Status HGNC_Synonyms HGNC_UCSC ID(supplied by UCSC) HGNC_UniProt ID(supplied by UniProt) HGNC_VEGA IDs HGVS_coding_DNA_change HGVS_genomic_change HGVS_protein_change ORegAnno_bin UniProt_alt_uniprot_accessions build ccds_id dbNSFP_1000Gp1_AC dbNSFP_1000Gp1_AF dbNSFP_1000Gp1_AFR_AC dbNSFP_1000Gp1_AFR_AF dbNSFP_1000Gp1_AMR_AC dbNSFP_1000Gp1_AMR_AF dbNSFP_1000Gp1_ASN_AC dbNSFP_1000Gp1_ASN_AF dbNSFP_1000Gp1_EUR_AC dbNSFP_1000Gp1_EUR_AF dbNSFP_Ancestral_allele dbNSFP_CADD_phred dbNSFP_CADD_raw dbNSFP_CADD_raw_rankscore dbNSFP_ESP6500_AA_AF dbNSFP_ESP6500_EA_AF dbNSFP_Ensembl_geneid dbNSFP_Ensembl_transcriptid dbNSFP_FATHMM_pred dbNSFP_FATHMM_rankscore dbNSFP_FATHMM_score dbNSFP_GERP++_NR dbNSFP_GERP++_RS dbNSFP_GERP++_RS_rankscore dbNSFP_Interpro_domain dbNSFP_LRT_Omega dbNSFP_LRT_converted_rankscore dbNSFP_LRT_pred dbNSFP_LRT_score dbNSFP_LR_pred dbNSFP_LR_rankscore dbNSFP_LR_score dbNSFP_MutationAssessor_pred dbNSFP_MutationAssessor_rankscore dbNSFP_MutationAssessor_score dbNSFP_MutationTaster_converted_rankscore dbNSFP_MutationTaster_pred dbNSFP_MutationTaster_score dbNSFP_Polyphen2_HDIV_pred dbNSFP_Polyphen2_HDIV_rankscore dbNSFP_Polyphen2_HDIV_score dbNSFP_Polyphen2_HVAR_pred dbNSFP_Polyphen2_HVAR_rankscore dbNSFP_Polyphen2_HVAR_score dbNSFP_RadialSVM_pred dbNSFP_RadialSVM_rankscore dbNSFP_RadialSVM_score dbNSFP_Reliability_index dbNSFP_SIFT_converted_rankscore dbNSFP_SIFT_pred dbNSFP_SIFT_score dbNSFP_SLR_test_statistic dbNSFP_SiPhy_29way_logOdds dbNSFP_SiPhy_29way_logOdds_rankscore dbNSFP_SiPhy_29way_pi dbNSFP_UniSNP_ids dbNSFP_Uniprot_aapos dbNSFP_Uniprot_acc dbNSFP_Uniprot_id dbNSFP_aaalt dbNSFP_aapos dbNSFP_aapos_FATHMM dbNSFP_aapos_SIFT dbNSFP_aaref dbNSFP_cds_strand dbNSFP_codonpos dbNSFP_fold-degenerate dbNSFP_genename dbNSFP_hg18_pos(1-coor) dbNSFP_phastCons100way_vertebrate dbNSFP_phastCons100way_vertebrate_rankscore dbNSFP_phastCons46way_placental dbNSFP_phastCons46way_placental_rankscore dbNSFP_phastCons46way_primate dbNSFP_phastCons46way_primate_rankscore dbNSFP_phyloP100way_vertebrate dbNSFP_phyloP100way_vertebrate_rankscore dbNSFP_phyloP46way_placental dbNSFP_phyloP46way_placental_rankscore dbNSFP_phyloP46way_primate dbNSFP_phyloP46way_primate_rankscore dbNSFP_refcodon gencode_transcript_name gencode_transcript_status gencode_transcript_tags gencode_transcript_type gene_id gene_type havana_transcript secondary_variant_classification strand transcript_id variant_classification variant_type sample_id NUP205 23165 broad.mit.edu 37 7 135289192 135289192 + Missense_Mutation SNP A A T TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr7:135289192A>T ENST00000285968.6 + 19.0 2833 c.2807A>T c.(2806-2808)gAt>gTt p.D936V NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 936.0 carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643) structural constituent of nuclear pore (GO:0017056) 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) 93.0 TTGGTTGGAGATTTCACACAT 0.353 0 132.0 123.0 126.0 7 135289192.0 2203.0 4299.0 6502.0 SO:0001583 missense D86978 CCDS34759.1 7q31.32 2007-03-26 2004-01-06 2004-01-07 ENSG00000155561 ENSG00000155561 23165.0 23165.0 18658.0 protein-coding gene gene with protein product 614352.0 """chromosome 7 open reading frame 14""" C7orf14 9039502, 9348540 Standard NM_015135 Approved KIAA0225 uc003vsw.3 Q92621 OTTHUMG00000155497 ENST00000285968.6:c.2807A>T 7.__UNKNOWN__:g.135289192A>T ENSP00000285968:p.Asp936Val A6H8X3|Q86YC1 __UNKNOWN__ CCDS34759.1 . . . . . . . . . . A 8.962 0.970868 0.18659 . . ENSG00000155561 ENST00000285968 T 0.25414 1.8 5.27 5.27 0.74061 . 0.093361 0.64402 D 0.000001 T 0.24122 0.0584 L 0.41236 1.265 0.80722 D 1 B 0.30146 0.27 B 0.31812 0.136 T 0.03423 -1.1038 10 0.29301 T 0.29 -21.1954 15.1862 0.73002 1.0:0.0:0.0:0.0 . 936 Q92621 NU205_HUMAN V 936 ENSP00000285968:D936V ENSP00000285968:D936V D + 2 0 NUP205 134939732 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 8.937000 0.92936 1.979000 0.57680 0.383000 0.25322 GAT NUP205-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340358.1 + ENST00000285968.6 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 TTN 7273 broad.mit.edu 37 2 179454380 179454380 + Missense_Mutation SNP C C T TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr2:179454380C>T ENST00000589042.1 - 304.0 62296 c.62072G>A c.(62071-62073)aGg>aAg p.R20691K TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18123K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11751K|TTN_ENST00000460472.2_Missense_Mutation_p.R11626K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11818K|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19050K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19050.0 adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) 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) 1448.0 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATAGTCAGGCCTCCGCCACTT 0.443 0 180.0 174.0 176.0 2 179454380.0 1922.0 4139.0 6061.0 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273.0 7273.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403.0 protein-coding gene gene with protein product 188840.0 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_133378 NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.62072G>A 2.__UNKNOWN__:g.179454380C>T ENSP00000467141:p.Arg20691Lys A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 __UNKNOWN__ CCDS59435.1 . . . . . . . . . . C 13.43 2.235172 0.39498 . . ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.56275 0.47;0.47;0.47;0.47 6.1 6.1 0.99115 Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.35770 0.0943 N 0.03224 -0.385 0.40267 D 0.978245 B;B;B;B 0.25272 0.122;0.122;0.122;0.021 B;B;B;B 0.20577 0.03;0.03;0.03;0.022 T 0.34304 -0.9834 9 0.87932 D 0 . 20.7146 0.99709 0.0:1.0:0.0:0.0 . 11626;11751;11818;19050 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN K 18123;11626;11818;11751;11624 ENSP00000343764:R18123K;ENSP00000434586:R11626K;ENSP00000340554:R11818K;ENSP00000352154:R11751K ENSP00000340554:R11818K R - 2 0 TTN 179162626 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 4.555000 0.60767 2.902000 0.99343 0.650000 0.86243 AGG TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 - ENST00000589042.1 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 UGT2B17 7367 broad.mit.edu 37 4 69416530 69416530 + Missense_Mutation SNP C C T TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr4:69416530C>T ENST00000317746.2 - 5.0 1220 c.1178G>A c.(1177-1179)gGc>gAc p.G393D NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 393.0 cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020) glucuronosyltransferase activity (GO:0015020) p.G393D(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30.0 Losartan(DB00678) CAAGGGAATGCCCACCATAGG 0.458 Melanoma(18;649 833 28984 37818 38500) 1 Substitution - Missense(1) kidney(1) 129.0 99.0 110.0 4 69416530.0 2105.0 3977.0 6082.0 SO:0001583 missense U59209 CCDS3523.1 4q13 2008-02-05 2005-07-20 ENSG00000197888 ENSG00000197888 7367.0 7367.0 """UDP glucuronosyltransferases""" 12547.0 protein-coding gene gene with protein product 601903.0 """UDP glycosyltransferase 2 family, polypeptide B17""" 8798464 Standard NM_001077 NM_001077 Approved uc021xov.1 O75795 OTTHUMG00000129305 ENST00000317746.2:c.1178G>A 4.__UNKNOWN__:g.69416530C>T ENSP00000320401:p.Gly393Asp __UNKNOWN__ CCDS3523.1 . . . . . . . . . . C 13.72 2.320568 0.41096 . . ENSG00000197888 ENST00000317746 T 0.63744 -0.06 2.7 2.7 0.31948 . 0.000000 0.64402 U 0.000001 T 0.81621 0.4861 H 0.96301 3.8 0.35776 D 0.821261 . . . . . . D 0.87420 0.2381 8 0.45353 T 0.12 . 10.8632 0.46839 0.0:1.0:0.0:0.0 . . . . D 393 ENSP00000320401:G393D ENSP00000320401:G393D G - 2 0 UGT2B17 69099125 1.000000 0.71417 0.988000 0.46212 0.160000 0.22226 6.862000 0.75484 1.342000 0.45619 0.393000 0.25936 GGC UGT2B17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251436.1 - ENST00000317746.2 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 GATAD1 57798 broad.mit.edu 37 7 92083921 92083921 + Missense_Mutation SNP A A G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr7:92083921A>G ENST00000287957.3 + 4.0 818 c.541A>G c.(541-543)Aag>Gag p.K181E NM_021167.4 NP_066990.3 Q8WUU5 GATD1_HUMAN GATA zinc finger domain containing 1 181.0 nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) endometrium(1)|kidney(2)|lung(3) 6.0 all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676) STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225) GTATTGCGAGAAGAGTGCAGC 0.443 0 171.0 161.0 164.0 7 92083921.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS5625.1 7q21-q22 2014-09-17 ENSG00000157259 ENSG00000157259 57798.0 57798.0 """GATA zinc finger domain containing""" 29941.0 protein-coding gene gene with protein product """ocular development associated gene""" 614518.0 12062807 Standard NM_021167 NM_021167 Approved ODAG, RG083M05.2, FLJ22489 uc003ulx.2 Q8WUU5 OTTHUMG00000131201 ENST00000287957.3:c.541A>G 7.__UNKNOWN__:g.92083921A>G ENSP00000287957:p.Lys181Glu B2RE37|D6W5Q5|Q8N5Y5|Q99995|Q9H689 __UNKNOWN__ CCDS5625.1 . . . . . . . . . . A 35 5.414774 0.96092 . . ENSG00000157259 ENST00000287957 D 0.87334 -2.24 5.92 5.92 0.95590 . 0.000000 0.85682 D 0.000000 D 0.93543 0.7939 M 0.80183 2.485 0.80722 D 1 D 0.69078 0.997 D 0.75020 0.985 D 0.94239 0.7483 10 0.87932 D 0 -24.0765 16.4114 0.83713 1.0:0.0:0.0:0.0 . 181 Q8WUU5 GATD1_HUMAN E 181 ENSP00000287957:K181E ENSP00000287957:K181E K + 1 0 GATAD1 91921857 1.000000 0.71417 1.000000 0.80357 0.971000 0.66376 9.137000 0.94496 2.276000 0.75962 0.529000 0.55759 AAG GATAD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253929.2 + ENST00000287957.3 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 MAMDC4 158056 broad.mit.edu 37 9 139753762 139753762 + Silent SNP C C A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr9:139753762C>A ENST00000317446.2 + 25.0 3236 c.3186C>A c.(3184-3186)ccC>ccA p.P1062P MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Silent_p.P1141P NM_206920.2 NP_996803.2 MAM domain containing 4 breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19.0 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) AGCCTGCCCCCAGCCCGGGTG 0.682 0 19.0 22.0 21.0 9 139753762.0 2193.0 4295.0 6488.0 SO:0001819 synonymous_variant AL834531 CCDS7010.1 9q34.3 2013-10-21 ENSG00000177943 ENSG00000177943 158056.0 158056.0 24083.0 protein-coding gene gene with protein product """apical early endosomal glycoprotein precursor"", ""endotubin""" 7829488 Standard NM_206920 NM_206920 Approved AEGP, DKFZp434M1411 uc004cjs.3 Q6UXC1 OTTHUMG00000020951 ENST00000317446.2:c.3186C>A 9.__UNKNOWN__:g.139753762C>A __UNKNOWN__ CCDS7010.1 . . . . . . . . . . . 0.263 -0.998240 0.02145 . . ENSG00000177943 ENST00000413647 . . . 4.87 -0.0576 0.13800 . . . . . T 0.20292 0.0488 . . . 0.26712 N 0.970951 . . . . . . T 0.23226 -1.0194 4 . . . -17.4613 1.1341 0.01751 0.2414:0.3784:0.1202:0.2599 . . . . K 1127 . . Q + 1 0 MAMDC4 138873583 0.012000 0.17670 0.055000 0.19348 0.071000 0.16799 1.066000 0.30604 0.291000 0.22468 0.556000 0.70494 CAG MAMDC4-005 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000254642.3 + ENST00000317446.2 Silent SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 PER1 5187 broad.mit.edu 37 17 8045151 8045151 + Missense_Mutation SNP C C G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr17:8045151C>G ENST00000317276.4 - 22.0 3809 c.3572G>C c.(3571-3573)gGc>gCc p.G1191A PER1_ENST00000581082.1_Missense_Mutation_p.G1168A NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 1191.0 CRY binding domain. {ECO:0000250}. circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47.0 AGGCAGTTGGCCCTTCCGGAC 0.577 T ETV6 """AML, CMML""" Other conserved DNA damage response genes Dom yes 17 17p13.1-17p12 5187.0 period homolog 1 (Drosophila) L 0 73.0 84.0 81.0 17 8045151.0 2203.0 4300.0 6503.0 SO:0001583 missense AB002107 CCDS11131.1 17p13.1 2012-12-13 2012-12-13 ENSG00000179094 5187.0 5187.0 8845.0 protein-coding gene gene with protein product 602260.0 """period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)""" PER 9323128 Standard NM_002616 Approved RIGUI uc002gkd.3 O15534 ENST00000317276.4:c.3572G>C 17.__UNKNOWN__:g.8045151C>G ENSP00000314420:p.Gly1191Ala B2RPA8|B4DI49|D3DTR3 __UNKNOWN__ CCDS11131.1 . . . . . . . . . . C 29.2 4.985233 0.93044 . . ENSG00000179094 ENST00000317276 T 0.15487 2.42 5.67 5.67 0.87782 Period circadian-like, C-terminal (1); 0.000000 0.85682 D 0.000000 T 0.44244 0.1284 M 0.75085 2.285 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 T 0.25641 -1.0126 10 0.56958 D 0.05 -23.2837 17.2644 0.87081 0.0:1.0:0.0:0.0 . 1182;1191 A2I2P6;O15534 .;PER1_HUMAN A 1191 ENSP00000314420:G1191A ENSP00000314420:G1191A G - 2 0 PER1 7985876 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 5.697000 0.68295 2.697000 0.92050 0.655000 0.94253 GGC PER1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000441481.2 - ENST00000317276.4 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 CTD-3222D19.2 9441 broad.mit.edu 37 19 16687787 16687787 + Missense_Mutation SNP G G A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr19:16687787G>A ENST00000409035.1 - 4.0 1138 c.878C>T c.(877-879)gCc>gTc p.A293V MED26_ENST00000263390.3_Missense_Mutation_p.A285V CTGCTGCCGGGCAAAGGAGCC 0.672 0 27.0 29.0 29.0 19 16687787.0 2203.0 4300.0 6503.0 SO:0001583 missense ENST00000409035.1:c.878C>T 19.__UNKNOWN__:g.16687787G>A ENSP00000386951:p.Ala293Val __UNKNOWN__ . . . . . . . . . . G 6.140 0.394013 0.11638 . . ENSG00000105085 ENST00000263390 . . . 4.73 3.62 0.41486 . 0.703755 0.13521 N 0.381703 T 0.22859 0.0552 N 0.05383 -0.06 0.22771 N 0.998754 B 0.06786 0.001 B 0.10450 0.005 T 0.09228 -1.0684 9 0.28530 T 0.3 -17.3249 10.4452 0.44490 0.1366:0.0:0.8634:0.0 . 285 O95402 MED26_HUMAN V 285 . ENSP00000263390:A285V A - 2 0 MED26 16548787 1.000000 0.71417 1.000000 0.80357 0.175000 0.22909 3.449000 0.52950 2.189000 0.69895 0.549000 0.68633 GCC CTD-3222D19.2-001 KNOWN basic|appris_principal|readthrough_transcript|exp_conf nonsense_mediated_decay protein_coding OTTHUMT00000461092.1 - ENST00000409035.1 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 THYN1 29087 broad.mit.edu 37 11 134120173 134120173 + Missense_Mutation SNP T T C TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr11:134120173T>C ENST00000341541.3 - 3.0 748 c.287A>G c.(286-288)tAc>tGc p.Y96C THYN1_ENST00000352327.5_Missense_Mutation_p.Y96C|THYN1_ENST00000392595.2_Missense_Mutation_p.Y96C|THYN1_ENST00000392594.3_Missense_Mutation_p.Y96C NM_014174.2 NP_054893.1 Q9P016 THYN1_HUMAN thymocyte nuclear protein 1 96.0 nucleus (GO:0005634) endometrium(2)|kidney(1)|lung(3)|pancreas(1) 7.0 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207) TCTTACCTGGTAGTTACGAAC 0.488 0 141.0 124.0 130.0 11 134120173.0 2201.0 4297.0 6498.0 SO:0001583 missense BC006978 CCDS8496.1, CCDS8497.1 11q25 2006-02-09 ENSG00000151500 ENSG00000151500 29087.0 29087.0 29560.0 protein-coding gene gene with protein product 613739.0 14601557, 12384300 Standard NM_014174 NM_014174 Approved THY28 uc001qhg.3 Q9P016 OTTHUMG00000167176 ENST00000341541.3:c.287A>G 11.__UNKNOWN__:g.134120173T>C ENSP00000341657:p.Tyr96Cys Q567Q2|Q9H3L4|Q9HC20 __UNKNOWN__ CCDS8496.1 . . . . . . . . . . T 19.91 3.914654 0.72983 . . ENSG00000151500 ENST00000392595;ENST00000341541;ENST00000392594;ENST00000352327 . . . 5.73 5.73 0.89815 EVE domain (2);PUA-like domain (1); 0.054928 0.85682 D 0.000000 D 0.88358 0.6415 H 0.97611 4.04 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.965;0.999 D 0.92141 0.5720 9 0.62326 D 0.03 -11.9896 16.0021 0.80301 0.0:0.0:0.0:1.0 . 96;96 Q9P016-2;Q9P016 .;THYN1_HUMAN C 96 . ENSP00000341657:Y96C Y - 2 0 THYN1 133625383 1.000000 0.71417 1.000000 0.80357 0.882000 0.50991 5.795000 0.69074 2.192000 0.70111 0.533000 0.62120 TAC THYN1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393599.1 - ENST00000341541.3 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 PCNXL2 80003 broad.mit.edu 37 1 233363071 233363071 + Missense_Mutation SNP C C T TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr1:233363071C>T ENST00000258229.9 - 10.0 2639 c.2405G>A c.(2404-2406)gGa>gAa p.G802E PCNXL2_ENST00000430153.1_Missense_Mutation_p.G101E NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 802.0 integral component of membrane (GO:0016021) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86.0 all_cancers(173;0.0347)|Prostate(94;0.137) GTTAAATTTTCCTTGTGTTGA 0.398 C 1.0 0.0005 2184.0 0.0017 0.9999 , , 0.0003 0.0005 0.876 LOWCOV,EXOME 0.0008 SNP 0 93.0 88.0 90.0 1 233363071.0 1835.0 4087.0 5922.0 SO:0001583 missense AK055374 CCDS44335.1 1q42.2 2008-02-05 2001-11-28 ENSG00000135749 ENSG00000135749 80003.0 80003.0 8736.0 protein-coding gene gene with protein product """pecanex (Drosophila)-like 2""" 12477932 Standard NM_014801 NM_014801 Approved KIAA0435, FLJ11383 uc001hvl.2 A6NKB5 OTTHUMG00000037824 ENST00000258229.9:c.2405G>A 1.__UNKNOWN__:g.233363071C>T ENSP00000258229:p.Gly802Glu O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8 __UNKNOWN__ CCDS44335.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 10.70 1.422783 0.25639 . . ENSG00000135749 ENST00000258229;ENST00000430153 T;T 0.46063 0.88;0.88 5.13 3.21 0.36854 . . . . . T 0.18257 0.0438 N 0.10916 0.065 0.26709 N 0.971005 P;B 0.38078 0.617;0.036 B;B 0.33960 0.173;0.008 T 0.07290 -1.0780 9 0.09084 T 0.74 . 7.2124 0.25941 0.1387:0.7112:0.0:0.1501 . 101;802 A6NKB5-2;A6NKB5 .;PCX2_HUMAN E 802;101 ENSP00000258229:G802E;ENSP00000394703:G101E ENSP00000258229:G802E G - 2 0 PCNXL2 231429694 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 2.778000 0.47726 1.284000 0.44531 0.655000 0.94253 GGA PCNXL2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000092480.3 - ENST00000258229.9 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 MYO5B 4645 broad.mit.edu 37 18 47488727 47488727 + Missense_Mutation SNP C C G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr18:47488727C>G ENST00000285039.7 - 12.0 1753 c.1454G>C c.(1453-1455)tGg>tCg p.W485S NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 485.0 Myosin motor. endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833) apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234) ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137) 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) 87.0 READ - Rectum adenocarcinoma(32;0.103) AATCAGGGTCCAAGGGATCTG 0.423 0 161.0 149.0 153.0 18 47488727.0 1889.0 4111.0 6000.0 SO:0001583 missense AB032945 CCDS42436.1 18q 2011-09-27 ENSG00000167306 ENSG00000167306 4645.0 4645.0 """Myosins / Myosin superfamily : Class V""" 7603.0 protein-coding gene gene with protein product 606540.0 8884266, 17462998 Standard NM_001080467 Approved KIAA1119 uc002leb.2 Q9ULV0 ENST00000285039.7:c.1454G>C 18.__UNKNOWN__:g.47488727C>G ENSP00000285039:p.Trp485Ser B0I1R3|Q0P656|Q9H6Y6 __UNKNOWN__ CCDS42436.1 . . . . . . . . . . C 24.4 4.529974 0.85706 . . ENSG00000167306 ENST00000285039;ENST00000356732 D 0.89485 -2.52 5.43 5.43 0.79202 Myosin head, motor domain (2); 0.000000 0.85682 D 0.000000 D 0.96818 0.8961 H 0.97291 3.975 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.998;0.999 D 0.98149 1.0440 10 0.87932 D 0 . 18.8599 0.92267 0.0:1.0:0.0:0.0 . 484;485 Q7Z7A5;Q9ULV0 .;MYO5B_HUMAN S 485;484 ENSP00000285039:W485S ENSP00000285039:W485S W - 2 0 MYO5B 45742725 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 7.818000 0.86416 2.533000 0.85409 0.561000 0.74099 TGG MYO5B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000448515.2 - ENST00000285039.7 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 RANBP2 5903 broad.mit.edu 37 2 109371681 109371681 + Missense_Mutation SNP T T G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr2:109371681T>G ENST00000283195.6 + 17.0 2558 c.2432T>G c.(2431-2433)cTg>cGg p.L811R NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 811.0 carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615) ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270) p.L811R(2) 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) 129.0 AATTCTTTACTGAAAATGATT 0.353 2 Substitution - Missense(2) kidney(2) 154.0 172.0 166.0 2 109371681.0 2202.0 4299.0 6501.0 SO:0001583 missense D42063 CCDS2079.1 2q13 2013-11-14 ENSG00000153201 ENSG00000153201 5903.0 5903.0 """Tetratricopeptide (TTC) repeat domain containing""" 9848.0 protein-coding gene gene with protein product 601181.0 """acute necrotizing encephalopathy 1 (autosomal dominant)""" ANE1 7724562, 19118815 Standard NM_006267 NM_006267 Approved NUP358, ADANE uc002tem.4 P49792 OTTHUMG00000130981 ENST00000283195.6:c.2432T>G 2.__UNKNOWN__:g.109371681T>G ENSP00000283195:p.Leu811Arg Q13074|Q15280|Q53TE2|Q59FH7 __UNKNOWN__ CCDS2079.1 . . . . . . . . . . t 18.76 3.693006 0.68271 . . ENSG00000153201 ENST00000409491;ENST00000283195 T 0.25579 1.79 5.8 5.8 0.92144 . . . . . T 0.42494 0.1205 L 0.36672 1.1 0.35947 D 0.833639 D 0.89917 1.0 D 0.87578 0.998 T 0.50101 -0.8867 9 0.49607 T 0.09 -3.3039 16.1496 0.81605 0.0:0.0:0.0:1.0 . 811 P49792 RBP2_HUMAN R 811 ENSP00000283195:L811R ENSP00000283195:L811R L + 2 0 RANBP2 108738113 1.000000 0.71417 0.996000 0.52242 0.996000 0.88848 6.914000 0.75764 2.210000 0.71456 0.443000 0.29094 CTG RANBP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253594.1 + ENST00000283195.6 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 ZNF496 84838 broad.mit.edu 37 1 247492595 247492595 + Silent SNP G G T TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr1:247492595G>T ENST00000294753.4 - 3.0 750 c.286C>A c.(286-288)Cgg>Agg p.R96R ZNF496_ENST00000366498.2_Silent_p.R96R NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 96.0 SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}. negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366) nuclear body (GO:0016604)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36.0 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) TGGATCTCCCGGGGCAGGATG 0.697 0 27.0 32.0 30.0 1 247492595.0 2202.0 4299.0 6501.0 SO:0001819 synonymous_variant BC007263 CCDS1631.1 1q44 2013-01-09 ENSG00000162714 ENSG00000162714 84838.0 84838.0 """Zinc fingers, C2H2-type"", ""-"", ""-"", ""-""" 23713.0 protein-coding gene gene with protein product 613911.0 12477932 Standard NM_032752 NM_032752 Approved ZKSCAN17, MGC15548, ZSCAN49 uc001ico.3 Q96IT1 OTTHUMG00000041164 ENST00000294753.4:c.286C>A 1.__UNKNOWN__:g.247492595G>T Q8TBS2 __UNKNOWN__ CCDS1631.1 ZNF496-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000098655.2 - ENST00000294753.4 Silent SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 ADAMTS20 80070 broad.mit.edu 37 12 43846144 43846144 + Missense_Mutation SNP T T A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr12:43846144T>A ENST00000389420.3 - 14.0 2011 c.2012A>T c.(2011-2013)gAt>gTt p.D671V ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D671V NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 671.0 Cys-rich. extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967) extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) 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) 95.0 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) TTCAACCATATCCTTCAATAG 0.338 0 90.0 86.0 87.0 12 43846144.0 2203.0 4300.0 6503.0 SO:0001583 missense AF488804 CCDS31778.2 12q12 2005-08-19 2005-08-19 ENSG00000173157 80070.0 80070.0 """ADAM metallopeptidases with thrombospondin type 1 motif""" 17178.0 protein-coding gene gene with protein product 611681.0 """a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20""" 12514189, 12562771 Standard NM_025003 NM_025003 Approved GON-1 uc010skx.2 P59510 ENST00000389420.3:c.2012A>T 12.__UNKNOWN__:g.43846144T>A ENSP00000374071:p.Asp671Val A6NNC9|J3QT00 __UNKNOWN__ CCDS31778.2 . . . . . . . . . . T 13.03 2.114887 0.37339 . . ENSG00000173157 ENST00000389420;ENST00000553158;ENST00000389417 T;T 0.69685 -0.42;0.25 4.96 3.8 0.43715 . 0.112860 0.38164 N 0.001796 T 0.70378 0.3217 M 0.73962 2.25 0.80722 D 1 P 0.38729 0.644 B 0.43478 0.421 T 0.73522 -0.3956 10 0.72032 D 0.01 . 12.5599 0.56275 0.0:0.0:0.1393:0.8607 . 671 P59510 ATS20_HUMAN V 671 ENSP00000374071:D671V;ENSP00000448341:D671V ENSP00000374068:D671V D - 2 0 ADAMTS20 42132411 1.000000 0.71417 0.154000 0.22540 0.005000 0.04900 5.869000 0.69613 0.978000 0.38470 -0.714000 0.03626 GAT ADAMTS20-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403643.1 - ENST00000389420.3 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 SSPO 23145 broad.mit.edu 37 7 149510857 149510857 + RNA SNP G G A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr7:149510857G>A ENST00000378016.2 + 0.0 10142 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion (GO:0007155) extracellular space (GO:0005615) peptidase inhibitor activity (GO:0030414) Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCGGGTGCTCGGCTGGCAAGG 0.672 0 23.0 27.0 26.0 7 149510857.0 2011.0 4155.0 6166.0 AK093431 7q36.1 2013-08-07 2013-08-06 ENSG00000197558 ENSG00000197558 23145.0 23145.0 21998.0 protein-coding gene gene with protein product """subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing""" """SCO-spondin homolog (Bos taurus)""" 8743952, 11008217 Standard NM_198455 Approved SCO-spondin, KIAA0543, FLJ36112 uc010lpk.3 A2VEC9 OTTHUMG00000157884 ENST00000378016.2: 7.__UNKNOWN__:g.149510857G>A Q76B61 __UNKNOWN__ SSPO-202 KNOWN basic processed_transcript processed_transcript + ENST00000378016.2 RNA SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 TFAP2D 83741 broad.mit.edu 37 6 50696701 50696701 + Missense_Mutation SNP T T G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr6:50696701T>G ENST00000008391.3 + 4.0 959 c.731T>G c.(730-732)cTc>cGc p.L244R TFAP2D_ENST00000492804.1_3'UTR NM_172238.3 NP_758438.2 transcription factor AP-2 delta (activating enhancer binding protein 2 delta) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60.0 Lung NSC(77;0.0334) CCTGAGTGCCTCAATGCTTCA 0.468 0 98.0 97.0 98.0 6 50696701.0 2203.0 4300.0 6503.0 SO:0001583 missense AY028376 CCDS4933.1 6p12.3 2008-02-05 2004-10-26 2004-10-27 ENSG00000008197 83741.0 83741.0 15581.0 protein-coding gene gene with protein product 610161.0 """transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1""" TFAP2BL1 11733187 Standard NM_172238 NM_172238 Approved uc003paf.3 Q7Z6R9 ENST00000008391.3:c.731T>G 6.__UNKNOWN__:g.50696701T>G ENSP00000008391:p.Leu244Arg __UNKNOWN__ CCDS4933.1 . . . . . . . . . . T 26.3 4.723044 0.89298 . . ENSG00000008197 ENST00000008391 D 0.98567 -5.0 5.97 5.97 0.96955 Transcription factor AP-2, C-terminal (1); 0.000000 0.85682 D 0.000000 D 0.99223 0.9730 M 0.93638 3.44 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.99174 1.0865 10 0.87932 D 0 -17.5463 16.4608 0.84044 0.0:0.0:0.0:1.0 . 244 Q7Z6R9 AP2D_HUMAN R 244 ENSP00000008391:L244R ENSP00000008391:L244R L + 2 0 TFAP2D 50804660 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 8.040000 0.89188 2.288000 0.76882 0.533000 0.62120 CTC TFAP2D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040881.1 + ENST00000008391.3 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 UHRF1BP1 54887 broad.mit.edu 37 6 34826576 34826576 + Missense_Mutation SNP G G C TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr6:34826576G>C ENST00000192788.5 + 14.0 2614 c.2443G>C c.(2443-2445)Gat>Cat p.D815H UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.D815H NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 815.0 histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54.0 GGATGTAGCAGATGTTCATAT 0.507 0 153.0 148.0 149.0 6 34826576.0 1985.0 4172.0 6157.0 SO:0001583 missense AB126777 CCDS43455.1 6p21.31 2008-10-28 2008-08-15 2007-11-27 ENSG00000065060 ENSG00000065060 54887.0 54887.0 21216.0 protein-coding gene gene with protein product """chromosome 6 open reading frame 107""" C6orf107 Standard NM_017754 NM_017754 Approved FLJ20302, dJ349A12.1, ICBP90 uc003oju.4 Q6BDS2 OTTHUMG00000014557 ENST00000192788.5:c.2443G>C 6.__UNKNOWN__:g.34826576G>C ENSP00000192788:p.Asp815His Q9NXE0 __UNKNOWN__ CCDS43455.1 . . . . . . . . . . G 14.30 2.494993 0.44352 . . ENSG00000065060 ENST00000192788;ENST00000452449 T;T 0.32988 1.43;1.43 5.7 4.84 0.62591 . 0.259357 0.40385 N 0.001113 T 0.26085 0.0636 M 0.64997 1.995 0.25456 N 0.987967 D 0.56521 0.976 P 0.48488 0.579 T 0.07770 -1.0755 10 0.72032 D 0.01 -4.1351 14.6497 0.68786 0.0696:0.0:0.9304:0.0 . 815 Q6BDS2 URFB1_HUMAN H 815 ENSP00000192788:D815H;ENSP00000400628:D815H ENSP00000192788:D815H D + 1 0 UHRF1BP1 34934554 0.978000 0.34361 0.010000 0.14722 0.723000 0.41478 3.176000 0.50863 1.422000 0.47177 -0.229000 0.12294 GAT UHRF1BP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040260.1 + ENST00000192788.5 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 AGTPBP1 23287 broad.mit.edu 37 9 88248216 88248216 + Missense_Mutation SNP G G A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr9:88248216G>A ENST00000376083.3 - 14.0 1332 c.1256C>T c.(1255-1257)cCt>cTt p.P419L AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.P297L|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.P471L|AGTPBP1_ENST00000357081.3_Missense_Mutation_p.P459L NM_015239.2 NP_056054.2 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 459.0 adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041) cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634) metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44.0 GCCTGCCGTAGGAACAACAAT 0.358 0 57.0 60.0 59.0 9 88248216.0 2185.0 4255.0 6440.0 SO:0001583 missense AB028958 CCDS6672.1, CCDS75854.1 9q21.33 2014-06-23 ENSG00000135049 ENSG00000135049 23287.0 23287.0 17258.0 protein-coding gene gene with protein product """cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase""" 606830.0 11083920 Standard NM_015239 NM_015239 Approved KIAA1035, Nna1, CCP1 uc010mqc.3 Q9UPW5 OTTHUMG00000020124 ENST00000376083.3:c.1256C>T 9.__UNKNOWN__:g.88248216G>A ENSP00000365251:p.Pro419Leu B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1 __UNKNOWN__ CCDS6672.1 . . . . . . . . . . G 19.99 3.928121 0.73327 . . ENSG00000135049 ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218 T;T;T;T 0.59364 1.82;1.8;1.74;0.27 6.07 6.07 0.98685 . 0.000000 0.85682 D 0.000000 T 0.75766 0.3894 M 0.64997 1.995 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;0.999 D;D;D;D 0.97110 0.999;0.998;1.0;0.973 T 0.72818 -0.4178 10 0.48119 T 0.1 -15.8208 20.6439 0.99570 0.0:0.0:1.0:0.0 . 471;459;297;419 Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2 .;CBPC1_HUMAN;.;. L 459;419;471;297 ENSP00000349592:P459L;ENSP00000365251:P419L;ENSP00000365277:P471L;ENSP00000402804:P297L ENSP00000349592:P459L P - 2 0 AGTPBP1 87438036 1.000000 0.71417 0.986000 0.45419 0.584000 0.36387 7.159000 0.77483 2.890000 0.99128 0.650000 0.86243 CCT AGTPBP1-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052894.1 - ENST00000376083.3 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 TRIML1 339976 broad.mit.edu 37 4 189063419 189063419 + Missense_Mutation SNP C C A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr4:189063419C>A ENST00000332517.3 + 3.0 658 c.518C>A c.(517-519)aCt>aAt p.T173N RP11-366H4.3_ENST00000501322.2_RNA NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 173.0 multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) 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) 60.0 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) GAAACAAAGACTTGTAAACAG 0.423 Melanoma(31;213 1036 16579 23968 32372) 0 50.0 47.0 48.0 4 189063419.0 2203.0 4300.0 6503.0 SO:0001583 missense AK093499 CCDS3851.1 4q35.2 2013-01-09 ENSG00000184108 ENSG00000184108 339976.0 339976.0 """RING-type (C3HC4) zinc fingers""" 26698.0 protein-coding gene gene with protein product 12477932 Standard NM_178556 NM_178556 Approved FLJ36180, RNF209 uc003izm.1 Q8N9V2 OTTHUMG00000160237 ENST00000332517.3:c.518C>A 4.__UNKNOWN__:g.189063419C>A ENSP00000327738:p.Thr173Asn Q96BE5 __UNKNOWN__ CCDS3851.1 . . . . . . . . . . C 0.086 -1.175269 0.01646 . . ENSG00000184108 ENST00000332517 T 0.04603 3.59 4.31 1.04 0.20106 . 0.590344 0.15327 N 0.268223 T 0.04137 0.0115 L 0.41632 1.29 0.09310 N 0.999999 B 0.02656 0.0 B 0.04013 0.001 T 0.42599 -0.9442 10 0.25106 T 0.35 -6.011 6.6576 0.22996 0.4524:0.3712:0.1764:0.0 . 173 Q8N9V2 TRIML_HUMAN N 173 ENSP00000327738:T173N ENSP00000327738:T173N T + 2 0 TRIML1 189300413 0.000000 0.05858 0.119000 0.21687 0.346000 0.29079 -1.028000 0.03589 0.169000 0.19679 0.650000 0.86243 ACT TRIML1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359813.1 + ENST00000332517.3 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 OFCC1 266553 broad.mit.edu 37 6 9933066 9933066 + Missense_Mutation SNP G G A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr6:9933066G>A ENST00000472329.1 - 0.0 357 OFCC1_ENST00000316020.6_Missense_Mutation_p.P133S Q8IZS5 OFCC1_HUMAN orofacial cleft 1 candidate 1 endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1) 11.0 Ovarian(93;0.0473)|Breast(50;0.201) all_hematologic(90;0.124) GTGCGATCCGGCATGTCGTGT 0.468 0 246.0 231.0 236.0 6 9933066.0 2203.0 4300.0 6503.0 SO:0001623 5_prime_UTR_variant AF548113 6p24.3 2010-11-23 ENSG00000181355 ENSG00000181355 266553.0 266553.0 21017.0 protein-coding gene gene with protein product 614287.0 Standard NM_153003 XM_003119969 Approved MRDS1 uc003myh.1 Q8IZS5 OTTHUMG00000159104 ENST00000472329.1:c.-677C>T 6.__UNKNOWN__:g.9933066G>A Q7Z2X5|Q8IUL6|Q8IUM1|Q8IZR9|Q8IZS1|Q8IZS3 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 5.472|5.472 0.272073|0.272073 0.10349|0.10349 .|. .|. ENSG00000181355|ENSG00000181355 ENST00000492169|ENST00000460363;ENST00000316020;ENST00000491508 .|T;T .|0.33654 .|1.4;1.4 5.84|5.84 3.01|3.01 0.34805|0.34805 .|. .|1.752260 .|0.02916 .|N .|0.137371 T|T 0.07279|0.07279 0.0184|0.0184 .|. .|. .|. 0.09310|0.09310 N|N 1|1 .|B;B;B;B;B .|0.23185 .|0.081;0.033;0.012;0.081;0.003 .|B;B;B;B;B .|0.18561 .|0.022;0.013;0.008;0.022;0.004 T|T 0.19647|0.19647 -1.0299|-1.0299 4|8 .|. .|. .|. 6.0475|6.0475 2.4487|2.4487 0.04512|0.04512 0.1395:0.1403:0.4603:0.2599|0.1395:0.1403:0.4603:0.2599 .|. .|65;133;65;65;65 .|B7ZLI9;Q8IZS5-2;E9PHR2;Q8IZS5;Q8IZS5-3 .|.;.;.;OFCC1_HUMAN;. V|S 47|65;133;133 .|ENSP00000325053:P133S;ENSP00000418251:P133S .|. A|P -|- 2|1 0|0 OFCC1|OFCC1 10041052|10041052 0.923000|0.923000 0.31300|0.31300 0.000000|0.000000 0.03702|0.03702 0.311000|0.311000 0.27955|0.27955 2.420000|2.420000 0.44679|0.44679 0.334000|0.334000 0.23590|0.23590 0.655000|0.655000 0.94253|0.94253 GCC|CCG OFCC1-003 KNOWN basic processed_transcript protein_coding OTTHUMT00000353310.2 - ENST00000472329.1 5'UTR SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 IPO5 3843 broad.mit.edu 37 13 98658492 98658492 + Missense_Mutation SNP C C T TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr13:98658492C>T ENST00000490680.1 + 14.0 1671 c.1606C>T c.(1606-1608)Cca>Tca p.P536S IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.P411S|IPO5_ENST00000261574.5_Missense_Mutation_p.P554S O00410 IPO5_HUMAN importin 5 536.0 cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634) GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536) breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27.0 TTTATTTATGCCATCACTGAA 0.408 0 122.0 117.0 118.0 13 98658492.0 2203.0 4300.0 6503.0 SO:0001583 missense U72761 CCDS31999.1 13q32.2 2012-05-02 2008-04-15 2008-04-15 ENSG00000065150 ENSG00000065150 3843.0 3843.0 """Importins""" 6402.0 protein-coding gene gene with protein product 602008.0 """karyopherin (importin) beta 3"", ""RAN binding protein 5""" KPNB3, RANBP5 9114010, 9271386, 17005651 Standard NM_002271 NM_002271 Approved IMB3, MGC2068, Pse1 uc001vne.3 O00410 OTTHUMG00000017244 ENST00000490680.1:c.1606C>T 13.__UNKNOWN__:g.98658492C>T ENSP00000418393:p.Pro536Ser B4DZA0|O15257|Q5T578|Q86XC7 __UNKNOWN__ . . . . . . . . . . C 27.0 4.788017 0.90367 . . ENSG00000065150 ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640 T;T;T;T 0.70869 -0.52;-0.52;-0.52;-0.52 4.83 4.83 0.62350 Armadillo-like helical (1);Armadillo-type fold (1); 0.047441 0.85682 D 0.000000 D 0.85496 0.5710 M 0.90198 3.095 0.80722 D 1 D;D;D 0.58268 0.978;0.97;0.982 P;P;D 0.64595 0.901;0.768;0.927 D 0.88118 0.2830 10 0.59425 D 0.04 -0.788 14.7758 0.69732 0.1448:0.8552:0.0:0.0 . 411;536;554 B4E0R6;O00410;O00410-3 .;IPO5_HUMAN;. S 554;536;536;411 ENSP00000261574:P554S;ENSP00000350219:P536S;ENSP00000418393:P536S;ENSP00000445126:P411S ENSP00000261574:P554S P + 1 0 IPO5 97456493 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 5.955000 0.70306 2.375000 0.81037 0.460000 0.39030 CCA IPO5-006 NOVEL alternative_5_UTR|basic|appris_principal protein_coding protein_coding OTTHUMT00000354655.1 + ENST00000490680.1 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 CTD-2066L21.3 0 broad.mit.edu 37 5 33162326 33162326 + RNA SNP C C T TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr5:33162326C>T ENST00000510327.1 - 0.0 346 GCCGCAAAACCGGGGGCAAGA 0.567 0 ENST00000510327.1: 5.__UNKNOWN__:g.33162326C>T __UNKNOWN__ CTD-2066L21.3-002 KNOWN basic lincRNA lincRNA OTTHUMT00000366718.1 - ENST00000510327.1 lincRNA SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 MLXIP 22877 broad.mit.edu 37 12 122613701 122613701 + Silent SNP G G C TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr12:122613701G>C ENST00000319080.7 + 4.0 756 c.624G>C c.(622-624)ggG>ggC p.G208G MLX interacting protein NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20.0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) CCACGGAAGGGAAGTACTGGA 0.532 Esophageal Squamous(105;787 1493 16200 18566 52466) 0 42.0 45.0 44.0 12 122613701.0 1946.0 4143.0 6089.0 SO:0001819 synonymous_variant AB020674 CCDS73540.1 12q21.31 2013-05-21 ENSG00000175727 22877.0 22877.0 """Basic helix-loop-helix proteins""" 17055.0 protein-coding gene gene with protein product 608090.0 10048485, 11073985 Standard NM_014938 XM_006719290 Approved MONDOA, KIAA0867, MIR, bHLHe36 uc001ubq.3 Q9HAP2 ENST00000319080.7:c.624G>C 12.__UNKNOWN__:g.122613701G>C __UNKNOWN__ MLXIP-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000401718.2 + ENST00000319080.7 Silent SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 STAG2 10735 broad.mit.edu 37 X 123215269 123215269 + Missense_Mutation SNP G G A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chrX:123215269G>A ENST00000218089.9 + 28.0 3325 c.2815G>A c.(2815-2817)Gat>Aat p.D939N STAG2_ENST00000371157.3_Missense_Mutation_p.D939N|STAG2_ENST00000371144.3_Missense_Mutation_p.D939N|STAG2_ENST00000371160.1_Missense_Mutation_p.D939N|STAG2_ENST00000371145.3_Missense_Mutation_p.D939N|STAG2_ENST00000354548.5_Missense_Mutation_p.D870N|STAG2_ENST00000469481.1_Intron NM_001042749.1 NP_001036214.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 939.0 meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827) actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) chromatin binding (GO:0003682) 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) 78.0 CTATAATTTTGATAGATCATC 0.318 0 91.0 85.0 87.0 X 123215269.0 2202.0 4299.0 6501.0 SO:0001583 missense Z75331 CCDS14607.1, CCDS43990.1 Xq25 2014-09-17 ENSG00000101972 ENSG00000101972 10735.0 10735.0 11355.0 protein-coding gene gene with protein product 300826.0 9305759 Standard NM_006603 NM_001042750 Approved SA-2, SCC3B uc004eua.3 Q8N3U4 OTTHUMG00000022725 ENST00000218089.9:c.2815G>A X.__UNKNOWN__:g.123215269G>A ENSP00000218089:p.Asp939Asn B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8 __UNKNOWN__ CCDS43990.1 . . . . . . . . . . G 19.19 3.780181 0.70222 . . ENSG00000101972 ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144 T;T;T;T;T;T 0.33438 1.79;1.42;1.41;1.41;1.79;1.41 5.38 5.38 0.77491 . 0.000000 0.85682 D 0.000000 T 0.53786 0.1818 M 0.63428 1.95 0.80722 D 1 D;D 0.89917 1.0;0.999 D;D 0.78314 0.991;0.942 T 0.49707 -0.8911 10 0.36615 T 0.2 -12.7984 18.2299 0.89931 0.0:0.0:1.0:0.0 . 939;939 Q8N3U4-2;Q8N3U4 .;STAG2_HUMAN N 939;870;939;939;939;939 ENSP00000218089:D939N;ENSP00000346555:D870N;ENSP00000360202:D939N;ENSP00000360199:D939N;ENSP00000360187:D939N;ENSP00000360186:D939N ENSP00000218089:D939N D + 1 0 STAG2 123042950 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 9.869000 0.99810 2.243000 0.73865 0.538000 0.68166 GAT STAG2-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000106726.2 + ENST00000218089.9 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 FMN2 56776 broad.mit.edu 37 1 240370244 240370244 + Missense_Mutation SNP T T A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr1:240370244T>A ENST00000319653.9 + 5.0 2362 c.2132T>A c.(2131-2133)cTt>cAt p.L711H NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 711.0 cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192) cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819) actin binding (GO:0003779) 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) 178.0 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CATCAAGGGCTTGAGAATGGA 0.488 0 73.0 72.0 73.0 1 240370244.0 2203.0 4300.0 6503.0 SO:0001583 missense AF218942 CCDS31069.2 1q43 2008-02-05 ENSG00000155816 ENSG00000155816 56776.0 56776.0 14074.0 protein-coding gene gene with protein product 606373.0 10781961 Standard XM_371352 NM_020066 Approved uc010pyd.2 Q9NZ56 OTTHUMG00000039883 ENST00000319653.9:c.2132T>A 1.__UNKNOWN__:g.240370244T>A ENSP00000318884:p.Leu711His B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55 __UNKNOWN__ CCDS31069.2 . . . . . . . . . . T 8.882 0.951953 0.18431 . . ENSG00000155816 ENST00000447095;ENST00000319653 T 0.27402 1.67 5.12 -2.76 0.05896 . 1.496520 0.04061 N 0.306433 T 0.15696 0.0378 N 0.22421 0.69 0.09310 N 1 P 0.41748 0.761 B 0.34824 0.19 T 0.15694 -1.0428 10 0.20519 T 0.43 . 4.6947 0.12797 0.1116:0.4417:0.104:0.3428 . 711 Q9NZ56 FMN2_HUMAN H 148;711 ENSP00000318884:L711H ENSP00000318884:L711H L + 2 0 FMN2 238436867 0.858000 0.29795 0.000000 0.03702 0.010000 0.07245 0.274000 0.18680 -0.386000 0.07821 -0.290000 0.09829 CTT FMN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000096217.2 + ENST00000319653.9 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 PHF6 84295 broad.mit.edu 37 X 133549219 133549219 + Silent SNP C C G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chrX:133549219C>G ENST00000332070.3 + 8.0 1036 PHF6_ENST00000370800.4_Silent_p.P302P|PHF6_ENST00000370799.1_Intron|PHF6_ENST00000416404.2_Intron|PHF6_ENST00000394292.1_Intron|PHF6_ENST00000370803.3_Intron NM_032458.2 NP_115834.1 Q8IWS0 PHF6_HUMAN PHD finger protein 6 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270) 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) 103.0 Acute lymphoblastic leukemia(192;0.000127) GAGTACATCCCAAATTTATCC 0.284 """F, N, Splice, Mis""" ETP ALL Colon(100;666 1493 6344 21231 35807) Rec yes X Xq26.3 84295.0 PHD finger protein 6 L 0 78.0 77.0 77.0 X 133549219.0 2203.0 4297.0 6500.0 SO:0001627 intron_variant AB058726 CCDS14639.1, CCDS14640.1 Xq26 2014-09-17 ENSG00000156531 ENSG00000156531 84295.0 84295.0 """Zinc fingers, PHD-type""" 18145.0 protein-coding gene gene with protein product """centromere protein 31""" 300414.0 """Borjeson-Forssman-Lehmann syndrome""" BFLS, BORJ 12415272, 15466013 Standard NM_032458 NM_032335 Approved KIAA1823, MGC14797, CENP-31 uc004exk.3 Q8IWS0 OTTHUMG00000022453 ENST00000332070.3:c.834+69C>G X.__UNKNOWN__:g.133549219C>G A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0 __UNKNOWN__ CCDS14639.1 PHF6-004 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000058367.1 + ENST00000332070.3 Intron SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 SDF2 6388 broad.mit.edu 37 17 26976014 26976014 + Missense_Mutation SNP T T G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr17:26976014T>G ENST00000247020.4 - 3.0 927 c.629A>C c.(628-630)gAg>gCg p.E210A SDF2_ENST00000592250.1_5'UTR NM_006923.3 NP_008854.2 Q99470 SDF2_HUMAN stromal cell-derived factor 2 210.0 protein glycosylation (GO:0006486)|protein O-linked mannosylation (GO:0035269) extracellular space (GO:0005615)|membrane (GO:0016020) dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169) endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7.0 Lung NSC(42;0.00431) GATTCACAGCTCTGCATGGTG 0.527 0 107.0 97.0 101.0 17 26976014.0 2203.0 4300.0 6503.0 SO:0001583 missense BC001406 CCDS11238.1 17q11.2 2004-02-16 ENSG00000132581 ENSG00000132581 6388.0 6388.0 10675.0 protein-coding gene gene with protein product 602934.0 8918255 Standard NM_006923 NR_045585 Approved uc002hbw.3 Q99470 OTTHUMG00000132681 ENST00000247020.4:c.629A>C 17.__UNKNOWN__:g.26976014T>G ENSP00000247020:p.Glu210Ala Q9BQ79 __UNKNOWN__ CCDS11238.1 . . . . . . . . . . T 18.35 3.605054 0.66445 . . ENSG00000132581 ENST00000247020 D 0.85955 -2.05 5.64 5.64 0.86602 . 0.000000 0.85682 D 0.000000 D 0.93051 0.7788 M 0.91920 3.255 0.58432 D 0.999998 D 0.69078 0.997 P 0.60682 0.878 D 0.94105 0.7365 10 0.56958 D 0.05 -22.6344 16.216 0.82217 0.0:0.0:0.0:1.0 . 210 Q99470 SDF2_HUMAN A 210 ENSP00000247020:E210A ENSP00000247020:E210A E - 2 0 SDF2 24000141 1.000000 0.71417 1.000000 0.80357 0.744000 0.42396 6.578000 0.74032 2.284000 0.76573 0.524000 0.50904 GAG SDF2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255965.2 - ENST00000247020.4 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 DOCK3 1795 broad.mit.edu 37 3 51393611 51393611 + Silent SNP C C T TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr3:51393611C>T ENST00000266037.9 + 42.0 4364 c.4341C>T c.(4339-4341)cgC>cgT p.R1447R NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1447.0 DHR-2. small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737) guanyl-nucleotide exchange factor activity (GO:0005085) breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45.0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GCTTCTATCGCGTCAACAATG 0.483 0 132.0 125.0 127.0 3 51393611.0 1954.0 4160.0 6114.0 SO:0001819 synonymous_variant AB002297 CCDS46835.1 3p21 2008-02-01 ENSG00000088538 ENSG00000088538 1795.0 1795.0 2989.0 protein-coding gene gene with protein product 603123.0 """dedicator of cyto-kinesis 3""" 9205841 Standard NM_004947 NM_004947 Approved KIAA0299, MOCA, PBP uc011bds.2 Q8IZD9 OTTHUMG00000156892 ENST00000266037.9:c.4341C>T 3.__UNKNOWN__:g.51393611C>T O15017 __UNKNOWN__ CCDS46835.1 DOCK3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346478.5 + ENST00000266037.9 Silent SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 HRC 3270 broad.mit.edu 37 19 49656694 49656694 + Missense_Mutation SNP A A G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr19:49656694A>G ENST00000252825.4 - 1.0 1987 c.1801T>C c.(1801-1803)Tcc>Ccc p.S601P HRC_ENST00000595625.1_Missense_Mutation_p.S601P NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 601.0 cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314) sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018) ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34.0 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) TCCTCGCTGGAGGCACCTCCA 0.642 Melanoma(37;75 1097 24567 25669 30645) 0 63.0 55.0 57.0 19 49656694.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS12759.1 19q13.3 2008-07-16 2001-11-28 ENSG00000130528 3270.0 3270.0 5178.0 protein-coding gene gene with protein product 142705.0 """histidine-rich calcium-binding protein""" 2037293 Standard NM_002152 XR_243928 Approved MGC133236 uc002pmv.3 P23327 ENST00000252825.4:c.1801T>C 19.__UNKNOWN__:g.49656694A>G ENSP00000252825:p.Ser601Pro Q504Y6 __UNKNOWN__ CCDS12759.1 . . . . . . . . . . A 10.30 1.313482 0.23908 . . ENSG00000130528 ENST00000252825;ENST00000391863 T 0.52057 0.68 2.87 1.77 0.24775 . . . . . T 0.51719 0.1691 L 0.60455 1.87 0.18873 N 0.999982 D 0.65815 0.995 P 0.56278 0.795 T 0.34775 -0.9815 9 0.30078 T 0.28 -2.3818 5.7431 0.18104 0.7202:0.2798:0.0:0.0 . 601 P23327 SRCH_HUMAN P 601;291 ENSP00000252825:S601P ENSP00000252825:S601P S - 1 0 HRC 54348506 0.738000 0.28186 0.434000 0.26772 0.187000 0.23431 1.062000 0.30555 0.462000 0.27095 0.460000 0.39030 TCC HRC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465649.1 - ENST00000252825.4 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 TENM3 55714 broad.mit.edu 37 4 183245322 183245322 + Missense_Mutation SNP T T A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr4:183245322T>A ENST00000511685.1 + 2.0 272 c.149T>A c.(148-150)tTt>tAt p.F50Y TENM3_ENST00000406950.2_Missense_Mutation_p.F50Y Q9P273 TEN3_HUMAN teneurin transmembrane protein 3 50.0 Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}. camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165) cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020) protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803) TTGAAAGCTTTTGATCATGAT 0.507 0 139.0 139.0 139.0 4 183245322.0 1955.0 4159.0 6114.0 SO:0001583 missense AF195420 CCDS47165.1 4q35 2012-10-02 2012-10-02 2012-10-02 ENSG00000218336 ENSG00000218336 55714.0 55714.0 29944.0 protein-coding gene gene with protein product 610083.0 """odz, odd Oz/ten-m homolog 3 (Drosophila)""" ODZ3 10331952, 10625539 Standard NM_001080477 Approved Ten-M3, KIAA1455 uc003ivd.1 Q9P273 OTTHUMG00000160682 ENST00000511685.1:c.149T>A 4.__UNKNOWN__:g.183245322T>A ENSP00000424226:p.Phe50Tyr Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2 __UNKNOWN__ CCDS47165.1 . . . . . . . . . . T 9.796 1.179116 0.21787 . . ENSG00000218336 ENST00000512480;ENST00000511685;ENST00000406950 T;T;T 0.28454 1.61;1.61;1.61 5.65 5.65 0.86999 Teneurin intracellular, N-terminal (2); . . . . T 0.32010 0.0815 N 0.11845 0.185 0.41070 D 0.985449 B;D 0.53885 0.002;0.963 B;D 0.67231 0.01;0.95 T 0.05517 -1.0880 9 0.02654 T 1 . 16.0399 0.80667 0.0:0.0:0.0:1.0 . 50;50 D6RGC5;Q9P273 .;TEN3_HUMAN Y 50 ENSP00000421320:F50Y;ENSP00000424226:F50Y;ENSP00000385276:F50Y ENSP00000385276:F50Y F + 2 0 ODZ3 183482316 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 5.738000 0.68613 2.371000 0.80710 0.533000 0.62120 TTT TENM3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000361734.1 + ENST00000511685.1 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 ANAPC7 51434 broad.mit.edu 37 12 110834213 110834213 + Missense_Mutation SNP T T G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr12:110834213T>G ENST00000455511.3 - 2.0 248 c.248A>C c.(247-249)cAt>cCt p.H83P RP11-478C19.2_ENST00000550231.1_RNA|ANAPC7_ENST00000450008.2_Missense_Mutation_p.H83P NM_016238.2 NP_057322.2 Q9UJX3 APC7_HUMAN anaphase promoting complex subunit 7 83.0 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) protein phosphatase binding (GO:0019903) breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1) 19.0 AGAATCTGCATGATACACCAA 0.393 0 78.0 67.0 70.0 12 110834213.0 2203.0 4300.0 6503.0 SO:0001583 missense AF191340 CCDS9145.2, CCDS44971.1 12q13.12 2013-01-10 ENSG00000196510 ENSG00000196510 51434.0 51434.0 """Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing""" 17380.0 protein-coding gene gene with protein product 606949.0 Standard NM_016238 NM_016238 Approved APC7 uc001tqo.2 Q9UJX3 OTTHUMG00000157009 ENST00000455511.3:c.248A>C 12.__UNKNOWN__:g.110834213T>G ENSP00000394394:p.His83Pro Q96AC4|Q96GF4|Q9BU24|Q9NT16 __UNKNOWN__ CCDS9145.2 . . . . . . . . . . T 21.7 4.192781 0.78902 . . ENSG00000196510 ENST00000455511;ENST00000450008 T;T 0.73681 1.2;-0.77 5.85 5.85 0.93711 Tetratricopeptide-like helical (1); 0.000000 0.85682 D 0.000000 T 0.81626 0.4862 L 0.43152 1.355 0.80722 D 1 D;P 0.69078 0.997;0.942 D;P 0.81914 0.995;0.487 T 0.80460 -0.1373 10 0.37606 T 0.19 0.121 16.2421 0.82418 0.0:0.0:0.0:1.0 . 83;83 Q9UJX3-2;Q9UJX3 .;APC7_HUMAN P 83 ENSP00000394394:H83P;ENSP00000402314:H83P ENSP00000402314:H83P H - 2 0 ANAPC7 109318596 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.587000 0.82613 2.234000 0.73211 0.533000 0.62120 CAT ANAPC7-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000347075.3 - ENST00000455511.3 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 MAGEE1 57692 broad.mit.edu 37 X 75651040 75651040 + Missense_Mutation SNP G G A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chrX:75651040G>A ENST00000361470.2 + 1.0 2995 c.2717G>A c.(2716-2718)cGt>cAt p.R906H NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 906.0 Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}. dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51.0 CCTAGAGCCCGTTTGGAAACC 0.483 0 79.0 74.0 76.0 X 75651040.0 2203.0 4300.0 6503.0 SO:0001583 missense AF490507 CCDS14433.1 Xq13 2008-02-05 ENSG00000198934 ENSG00000198934 57692.0 57692.0 24934.0 protein-coding gene gene with protein product 300759.0 14623885 Standard NM_020932 NM_020932 Approved KIAA1587, DAMAGE uc004ecm.2 Q9HCI5 OTTHUMG00000021879 ENST00000361470.2:c.2717G>A X.__UNKNOWN__:g.75651040G>A ENSP00000354912:p.Arg906His Q5JXC7|Q86TG0|Q8TD92|Q9H216 __UNKNOWN__ CCDS14433.1 . . . . . . . . . . . 6.759 0.508865 0.12883 . . ENSG00000198934 ENST00000361470 T 0.04603 3.59 2.21 2.21 0.28008 . . . . . T 0.02688 0.0081 N 0.00280 -1.71 0.26582 N 0.973364 D 0.89917 1.0 D 0.69307 0.963 T 0.47045 -0.9147 9 0.13470 T 0.59 . 7.167 0.25695 0.0:0.0:1.0:0.0 . 906 Q9HCI5 MAGE1_HUMAN H 906 ENSP00000354912:R906H ENSP00000354912:R906H R + 2 0 MAGEE1 75567444 0.937000 0.31787 0.918000 0.36340 0.951000 0.60555 0.550000 0.23345 1.380000 0.46344 0.529000 0.55759 CGT MAGEE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057298.1 + ENST00000361470.2 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 RNF34 80196 broad.mit.edu 37 12 121861316 121861316 + Missense_Mutation SNP C C T TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr12:121861316C>T ENST00000555076.1 + 2.0 200 c.134C>T c.(133-135)gCa>gTa p.A45V RNF34_ENST00000392465.3_Silent_p.R353R|RNF34_ENST00000361234.5_Silent_p.R352R|RNF34_ENST00000392464.2_Silent_p.R352R ring finger protein 34, E3 ubiquitin protein ligase breast(1)|large_intestine(1) 2.0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) GCGGCAAGCGCATGAGTGAGT 0.582 0 144.0 98.0 113.0 12 121861316.0 2203.0 4300.0 6503.0 SO:0001583 missense AF306709, AB084914 CCDS9221.1, CCDS31915.1, CCDS73538.1 12q24.31 2012-02-23 2012-02-23 ENSG00000170633 80196.0 80196.0 """RING-type (C3HC4) zinc fingers""" 17297.0 protein-coding gene gene with protein product 608299.0 """ring finger protein 34""" 12118383 Standard NM_194271 NM_025126 Approved RIFF, FLJ21786, RIF uc001ual.2 Q969K3 ENST00000555076.1:c.134C>T 12.__UNKNOWN__:g.121861316C>T ENSP00000452200:p.Ala45Val __UNKNOWN__ . . . . . . . . . . C 13.18 2.158953 0.38119 . . ENSG00000170633 ENST00000555076 . . . 6.06 3.19 0.36642 . . . . . T 0.27454 0.0674 . . . 0.23886 N 0.996565 . . . . . . T 0.20974 -1.0259 4 . . . -3.7588 5.2645 0.15591 0.3181:0.4114:0.2087:0.0618 . . . . V 45 . . A + 2 0 RNF34 120345699 0.945000 0.32115 1.000000 0.80357 0.999000 0.98932 0.057000 0.14279 0.405000 0.25532 0.650000 0.86243 GCA RNF34-008 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000413893.1 + ENST00000555076.1 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 STAG2 10735 broad.mit.edu 37 X 123215265 123215265 + Frame_Shift_Del DEL T T - TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chrX:123215265delT ENST00000218089.9 + 28.0 3321 c.2811delT c.(2809-2811)aatfs p.N937fs STAG2_ENST00000371157.3_Frame_Shift_Del_p.N937fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.N937fs|STAG2_ENST00000371160.1_Frame_Shift_Del_p.N937fs|STAG2_ENST00000371145.3_Frame_Shift_Del_p.N937fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.N868fs|STAG2_ENST00000469481.1_Intron NM_001042749.1 NP_001036214.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 937.0 meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827) actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) chromatin binding (GO:0003682) 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) 78.0 ATGGCTATAATTTTGATAGAT 0.308 0 86.0 82.0 83.0 X 123215265.0 2202.0 4299.0 6501.0 SO:0001589 frameshift_variant Z75331 CCDS14607.1, CCDS43990.1 Xq25 2014-09-17 ENSG00000101972 ENSG00000101972 10735.0 10735.0 11355.0 protein-coding gene gene with protein product 300826.0 9305759 Standard NM_006603 NM_001042750 Approved SA-2, SCC3B uc004eua.3 Q8N3U4 OTTHUMG00000022725 ENST00000218089.9:c.2811delT X.__UNKNOWN__:g.123215265delT ENSP00000218089:p.Asn937fs B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8 __UNKNOWN__ CCDS43990.1 STAG2-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000106726.2 + ENST00000218089.9 Frame_Shift_Del DEL PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 Unknown 0 bcgsc.ca 37 6 85997080 85997080 + RNA SNP T T G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr6:85997080T>G TBX18 (522843 upstream) : RP11-30P6.6 (99856 downstream) ACAAGTAGTGTTGAACTGTGA 0.448 0 SO:0001628 intergenic_variant 6.__UNKNOWN__:g.85997080T>G __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 NECAP2 55707 ucsc.edu 37 1 16785428 16785428 + Silent SNP C C T TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr1:16785428C>T ENST00000504551.2 + 0.0 693 NECAP2_ENST00000443980.2_Silent_p.L253L|NECAP2_ENST00000406746.1_3'UTR|NECAP2_ENST00000337132.5_3'UTR|NECAP2_ENST00000457722.2_3'UTR Q9NVZ3 NECP2_HUMAN NECAP endocytosis associated 2 endocytosis (GO:0006897)|protein transport (GO:0015031) clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9.0 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649) GGAAGGCGCTCCCTCATCTGG 0.557 0 C ,, 1,4405 2.1+/-5.4 0,1,2202 65.0 67.0 67.0 759,, -2.7 0.0 1 67.0 0,8600 0,0,4300 no coding-synonymous,utr-3,utr-3 NECAP2 NM_001145277.1,NM_001145278.1,NM_018090.4 ,, 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 ,, 253/274,, 16785428.0 1,13005 2203.0 4300.0 6503.0 SO:0001624 3_prime_UTR_variant AK021938 CCDS173.1, CCDS44066.1, CCDS44067.1 1p36.13 2008-02-05 ENSG00000157191 ENSG00000157191 55707.0 55707.0 25528.0 protein-coding gene gene with protein product 611624 14555962, 15494011 Standard NM_018090 NM_001145277 Approved FLJ10420 uc001ayq.3 Q9NVZ3 OTTHUMG00000002313 ENST00000504551.2:c.*43C>T 1.__UNKNOWN__:g.16785428C>T B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1 __UNKNOWN__ NECAP2-012 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000368124.2 + ENST00000504551.2 3'UTR SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 PLA2G4E 123745 ucsc.edu 37 15 42287670 42287670 + Missense_Mutation SNP T T C TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr15:42287670T>C ENST00000399518.3 - 12.0 1621 c.1135A>G c.(1135-1137)Act>Gct p.T379A CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.T350A NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 367.0 PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}. glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020) metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16.0 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) CCACCCCCAGTGGCCATGATG 0.572 0 57.0 61.0 60.0 15 42287670.0 1971.0 4166.0 6137.0 SO:0001583 missense CCDS55962.1 15q15.1 2008-09-19 ENSG00000188089 ENSG00000188089 123745.0 123745.0 3.1.1.4 24791.0 protein-coding gene gene with protein product 15866882 Standard NM_198442 NM_001206670 Approved FLJ45651 uc021sjp.1 Q3MJ16 OTTHUMG00000130371 ENST00000399518.3:c.1135A>G 15.__UNKNOWN__:g.42287670T>C ENSP00000382434:p.Thr379Ala Q6ZSC0 __UNKNOWN__ CCDS55962.1 . . . . . . . . . . T 23.1 4.375385 0.82682 . . ENSG00000188089 ENST00000399518;ENST00000413860 T;T 0.10668 2.85;2.85 4.6 4.6 0.57074 Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3); 0.076686 0.52532 D 0.000063 T 0.26231 0.0640 M 0.65975 2.015 0.35821 D 0.824626 P;P 0.49961 0.678;0.93 P;P 0.58391 0.759;0.838 T 0.26573 -1.0099 10 0.52906 T 0.07 -7.7841 12.9914 0.58620 0.0:0.0:0.0:1.0 . 350;367 C9JK77;Q3MJ16 .;PA24E_HUMAN A 379;350 ENSP00000382434:T379A;ENSP00000413897:T350A ENSP00000382434:T379A T - 1 0 PLA2G4E 40074962 1.000000 0.71417 0.999000 0.59377 0.983000 0.72400 3.538000 0.53597 1.731000 0.51592 0.379000 0.24179 ACT PLA2G4E-001 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252738.2 - ENST00000399518.3 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 SIN3B 23309 ucsc.edu 37 19 16989447 16989447 + Missense_Mutation SNP C C T TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr19:16989447C>T ENST00000248054.5 + 19.0 3323 c.3302C>T c.(3301-3303)cCc>cTc p.P1101L SIN3B_ENST00000594235.1_3'UTR|SIN3B_ENST00000379803.1_Missense_Mutation_p.P1133L|SIN3B_ENST00000595541.1_Missense_Mutation_p.P691L SIN3 transcription regulator family member B endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26.0 GACATGGTACCCTGCAAGACG 0.682 0 147.0 113.0 124.0 19 16989447.0 2203.0 4300.0 6503.0 SO:0001583 missense AB014600 CCDS32946.1, CCDS74308.1 19p13.12 2013-08-21 2013-08-21 23309.0 23309.0 19354.0 protein-coding gene gene with protein product 607777 """SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)""" 9734811 Standard NM_015260 XM_005259832 Approved KIAA0700 uc002ney.2 O75182 ENST00000248054.5:c.3302C>T 19.__UNKNOWN__:g.16989447C>T ENSP00000248054:p.Pro1101Leu __UNKNOWN__ . . . . . . . . . . C 27.2 4.814040 0.90790 . . ENSG00000127511 ENST00000379803;ENST00000248054 T;T 0.50813 0.74;0.73 4.17 4.17 0.49024 . 0.000000 0.85682 D 0.000000 T 0.58878 0.2153 L 0.34521 1.04 0.80722 D 1 D;D;D 0.89917 1.0;0.999;0.997 D;D;D 0.87578 0.998;0.972;0.926 T 0.64997 -0.6275 10 0.87932 D 0 -36.5315 16.4698 0.84109 0.0:1.0:0.0:0.0 . 691;1101;1133 B7Z392;O75182-2;O75182 .;.;SIN3B_HUMAN L 1133;1101 ENSP00000369131:P1133L;ENSP00000248054:P1101L ENSP00000248054:P1101L P + 2 0 SIN3B 16850447 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 7.575000 0.82447 1.870000 0.54199 0.561000 0.74099 CCC SIN3B-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000462846.1 + ENST00000248054.5 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 NEK5 341676 hgsc.bcm.edu 37 13 52667326 52667326 + Missense_Mutation SNP A A G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 A A . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr13:52667326A>G ENST00000355568.4 - 13.0 1211 c.1072T>C c.(1072-1074)Tat>Cat p.Y358H NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 358.0 positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674) 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) 39.0 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) TAATAATCATAATGTCCACAG 0.388 0 130.0 121.0 124.0 13 52667326.0 2203.0 4300.0 6503.0 SO:0001583 missense BC063885 CCDS31979.1 13q14.2 2012-11-15 2012-11-15 ENSG00000197168 ENSG00000197168 341676.0 341676.0 7748.0 protein-coding gene gene with protein product """NIMA (never in mitosis gene a)-related kinase 5""" 9552363 Standard NM_199289 XM_006719807 Approved uc001vge.3 Q6P3R8 OTTHUMG00000016957 ENST00000355568.4:c.1072T>C 13.__UNKNOWN__:g.52667326A>G ENSP00000347767:p.Tyr358His Q5TAP5 __UNKNOWN__ CCDS31979.1 . . . . . . . . . . A 17.71 3.457253 0.63401 . . ENSG00000197168 ENST00000355568 T 0.76578 -1.03 5.0 3.81 0.43845 . 0.000000 0.43747 D 0.000538 T 0.68339 0.2990 L 0.54323 1.7 0.25911 N 0.983237 P 0.41673 0.759 B 0.35899 0.213 T 0.58132 -0.7690 10 0.27785 T 0.31 . 10.3826 0.44121 0.9223:0.0:0.0777:0.0 . 358 Q6P3R8 NEK5_HUMAN H 358 ENSP00000347767:Y358H ENSP00000347767:Y358H Y - 1 0 NEK5 51565327 1.000000 0.71417 0.964000 0.40570 0.863000 0.49368 4.440000 0.59975 0.763000 0.33175 0.496000 0.49642 TAT NEK5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045045.3 - ENST00000355568.4 Missense_Mutation SNP PCPG-TCGA-P7-A5NX-Normal-SM-5EQH2 TUBB3 10381 broad.mit.edu 37 16 90002016 90002016 + Missense_Mutation SNP C C T TCGA-P7-A5NY-01A-12D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68fd9953-4dca-40f6-a422-28b82a371e12 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr16:90002016C>T ENST00000556922.1 + 5.0 2292 c.2198C>T c.(2197-2199)aCg>aTg p.T733M TUBB3_ENST00000554444.1_Missense_Mutation_p.T314M|TUBB3_ENST00000304984.5_Missense_Mutation_p.T314M|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000315491.7_Missense_Mutation_p.T386M Q13509 TBB3_HUMAN tubulin, beta 3 class III 386.0 'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258) cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200) cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17.0 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) Ixabepilone(DB04845) GAGCAGTTCACGGCCATGTTC 0.622 0 117.0 109.0 111.0 16 90002016.0 2198.0 4297.0 6495.0 SO:0001583 missense BC000748 CCDS10988.1, CCDS56012.1 16q24.3 2014-02-04 2011-10-10 ENSG00000198211 ENSG00000198211 10381.0 10381.0 """Tubulins""" 20772.0 protein-coding gene gene with protein product """class III beta-tubulin""" 602661.0 """tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3""" FEOM3 9473684, 8098743, 20074521 Standard NM_006086 NM_006086 Approved beta-4, CFEOM3, CFEOM3A uc002fph.2 Q13509 OTTHUMG00000138985 ENST00000556922.1:c.2198C>T 16.__UNKNOWN__:g.90002016C>T ENSP00000451560:p.Thr733Met A8K854|Q9BTZ0|Q9BW10 __UNKNOWN__ . . . . . . . . . . C 15.64 2.894515 0.52121 . . ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211 ENST00000556922;ENST00000555399;ENST00000304984;ENST00000554444;ENST00000315491 D;D;D;D 0.84298 -1.83;-1.83;-1.83;-1.83 4.66 4.66 0.58398 Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1); 0.000000 0.64402 D 0.000017 D 0.87430 0.6175 M 0.86420 2.815 0.53688 D 0.999972 B;P 0.47762 0.391;0.9 B;B 0.40636 0.335;0.248 D 0.89677 0.3888 9 . . . . 17.5117 0.87762 0.0:1.0:0.0:0.0 . 386;386 Q13509;B2RBD5 TBB3_HUMAN;. M 733;386;314;314;386 ENSP00000451560:T733M;ENSP00000302777:T314M;ENSP00000451617:T314M;ENSP00000320295:T386M . T + 2 0 RP11-566K11.2;TUBB3 88529517 1.000000 0.71417 0.997000 0.53966 0.992000 0.81027 7.600000 0.82769 2.313000 0.78055 0.561000 0.74099 ACG TUBB3-001 NOVEL basic|appris_principal|readthrough_transcript|exp_conf protein_coding protein_coding OTTHUMT00000412002.1 + ENST00000556922.1 Missense_Mutation SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB GPR128 84873 broad.mit.edu 37 3 100328717 100328717 + Missense_Mutation SNP C C T TCGA-P7-A5NY-01A-12D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68fd9953-4dca-40f6-a422-28b82a371e12 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr3:100328717C>T ENST00000273352.3 + 1.0 285 c.17C>T c.(16-18)gCc>gTc p.A6V NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 6.0 G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) 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) 56.0 TCCTGCCGTGCCTGGAACCTT 0.483 Pancreas(87;185 1975 7223 18722) 0 165.0 140.0 148.0 3 100328717.0 2203.0 4300.0 6503.0 SO:0001583 missense AK027360 CCDS2938.1 3q12.3 2014-08-08 ENSG00000144820 ENSG00000144820 84873.0 84873.0 """-"", ""GPCR / Class B : Orphans""" 19241.0 protein-coding gene gene with protein product 612307.0 Standard NM_032787 Approved FLJ14454 uc003duc.3 Q96K78 OTTHUMG00000159083 ENST00000273352.3:c.17C>T 3.__UNKNOWN__:g.100328717C>T ENSP00000273352:p.Ala6Val Q14D94|Q86SQ2 __UNKNOWN__ CCDS2938.1 . . . . . . . . . . C 10.15 1.271829 0.23221 . . ENSG00000144820 ENST00000273352 T 0.39592 1.07 5.37 -2.11 0.07187 . 1.895920 0.02324 N 0.073287 T 0.25865 0.0630 N 0.22421 0.69 0.09310 N 1 B 0.02656 0.0 B 0.06405 0.002 T 0.13791 -1.0496 10 0.41790 T 0.15 . 1.3581 0.02186 0.1423:0.3333:0.2825:0.2419 . 6 Q96K78 GP128_HUMAN V 6 ENSP00000273352:A6V ENSP00000273352:A6V A + 2 0 GPR128 101811407 0.000000 0.05858 0.000000 0.03702 0.051000 0.14879 -0.409000 0.07160 -0.090000 0.12462 0.563000 0.77884 GCC GPR128-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353236.1 + ENST00000273352.3 Missense_Mutation SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB MYOM1 8736 broad.mit.edu 37 18 3168935 3168935 + Missense_Mutation SNP A A T TCGA-P7-A5NY-01A-12D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68fd9953-4dca-40f6-a422-28b82a371e12 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr18:3168935A>T ENST00000356443.4 - 9.0 1552 c.1219T>A c.(1219-1221)Ttt>Att p.F407I MYOM1_ENST00000400569.3_Missense_Mutation_p.F407I|MYOM1_ENST00000261606.7_Missense_Mutation_p.F407I NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 407.0 Ig-like C2-type 2. muscle contraction (GO:0006936) M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863) identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307) 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) 77.0 TTGTCATCAAAGTGGATCTCA 0.398 0 98.0 88.0 91.0 18 3168935.0 1877.0 4106.0 5983.0 SO:0001583 missense AF185573 CCDS45823.1, CCDS45824.1 18p11.31 2014-09-17 2012-10-17 ENSG00000101605 ENSG00000101605 8736.0 8736.0 """Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 7613.0 protein-coding gene gene with protein product """skelemin""" 603508.0 """myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa""" 9806852 Standard NM_003803 NM_019856 Approved uc002klp.3 P52179 OTTHUMG00000178209 ENST00000356443.4:c.1219T>A 18.__UNKNOWN__:g.3168935A>T ENSP00000348821:p.Phe407Ile Q14BD6|Q6H969|Q6ZUU0 __UNKNOWN__ CCDS45824.1 . . . . . . . . . . A 14.92 2.679052 0.47886 . . ENSG00000101605 ENST00000356443;ENST00000400569;ENST00000261606 T;T;T 0.46451 1.01;1.02;0.87 5.55 5.55 0.83447 Immunoglobulin-like (1); 0.052950 0.85682 D 0.000000 T 0.26810 0.0656 N 0.05534 -0.03 0.45930 D 0.998761 B;B 0.27166 0.028;0.17 B;B 0.32090 0.015;0.14 T 0.12604 -1.0541 10 0.18276 T 0.48 . 15.8583 0.79000 1.0:0.0:0.0:0.0 . 407;407 P52179-2;P52179 .;MYOM1_HUMAN I 407 ENSP00000348821:F407I;ENSP00000383413:F407I;ENSP00000261606:F407I ENSP00000261606:F407I F - 1 0 MYOM1 3158935 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 4.894000 0.63206 2.326000 0.78906 0.533000 0.62120 TTT MYOM1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000441037.2 - ENST00000356443.4 Missense_Mutation SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB VPS28 51160 broad.mit.edu 37 8 145649475 145649475 + Missense_Mutation SNP C C T TCGA-P7-A5NY-01A-12D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68fd9953-4dca-40f6-a422-28b82a371e12 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr8:145649475C>T ENST00000526054.1 - 8.0 534 c.497G>A c.(496-498)cGc>cAc p.R166H VPS28_ENST00000377348.2_Missense_Mutation_p.R166H|VPS28_ENST00000529182.1_Missense_Mutation_p.R166H|VPS28_ENST00000292510.4_Missense_Mutation_p.R166H Q9UK41 VPS28_HUMAN vacuolar protein sorting 28 homolog (S. cerevisiae) 166.0 VPS28 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00642}. endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7.0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;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) GTGGCTCATGCGGTGCATGGT 0.692 0 53.0 59.0 57.0 8 145649475.0 2203.0 4299.0 6502.0 SO:0001583 missense AF316887 CCDS6425.1, CCDS34967.1 8q24.3 2014-08-12 2006-04-04 ENSG00000160948 ENSG00000160948 51160.0 51160.0 18178.0 protein-coding gene gene with protein product 611952.0 """vacuolar protein sorting 28 (yeast)""" Standard NM_183057 Approved uc003zct.1 Q9UK41 OTTHUMG00000165209 ENST00000526054.1:c.497G>A 8.__UNKNOWN__:g.145649475C>T ENSP00000434064:p.Arg166His Q86VK0 __UNKNOWN__ CCDS6425.1 . . . . . . . . . . c 19.14 3.770276 0.69992 . . ENSG00000160948 ENST00000529182;ENST00000526054;ENST00000292510;ENST00000377348;ENST00000533806 . . . 5.32 3.5 0.40072 Vacuolar protein sorting-associated, VPS28, C-terminal (1); 0.049523 0.64402 D 0.000001 T 0.78039 0.4221 M 0.93150 3.385 0.58432 D 0.999997 D;P 0.58268 0.982;0.89 P;P 0.54759 0.76;0.614 T 0.83080 -0.0138 9 0.87932 D 0 . 10.4447 0.44486 0.0:0.8359:0.0:0.1641 . 166;166 Q9UK41-2;Q9UK41 .;VPS28_HUMAN H 166;166;166;166;149 . ENSP00000292510:R166H R - 2 0 VPS28 145620283 1.000000 0.71417 0.973000 0.42090 0.187000 0.23431 3.575000 0.53870 1.490000 0.48466 -0.137000 0.14449 CGC VPS28-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000382694.1 - ENST00000526054.1 Missense_Mutation SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB LMO7 4008 broad.mit.edu 37 13 76375012 76375012 + Missense_Mutation SNP C C T TCGA-P7-A5NY-01A-12D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68fd9953-4dca-40f6-a422-28b82a371e12 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr13:76375012C>T ENST00000321797.8 + 0.0 677 RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Missense_Mutation_p.R180C|LMO7_ENST00000357063.3_Missense_Mutation_p.R271C|LMO7_ENST00000377534.3_Missense_Mutation_p.R271C|LMO7_ENST00000341547.4_Missense_Mutation_p.R271C|LMO7_ENST00000465261.2_5'UTR Q8WWI1 LMO7_HUMAN LIM domain 7 protein ubiquitination (GO:0016567) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151) ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56.0 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) GAGAGGGGGGCGTGAAGGTGT 0.448 0 152.0 160.0 158.0 13 76375012.0 2203.0 4300.0 6503.0 SO:0001623 5_prime_UTR_variant AF092557 CCDS9454.1, CCDS53876.1 13q22.2 2008-02-05 2004-06-15 ENSG00000136153 ENSG00000136153 4008.0 4008.0 6646.0 protein-coding gene gene with protein product """F-box only protein 20""" 604362.0 """LIM domain only 7""" FBXO20 9826547, 10531035 Standard NM_005358 NM_005358 Approved FBX20, KIAA0858 uc021rkq.1 Q8WWI1 OTTHUMG00000017093 ENST00000321797.8:c.-45C>T 13.__UNKNOWN__:g.76375012C>T E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7 __UNKNOWN__ . . . . . . . . . . C 18.29 3.591116 0.66219 . . ENSG00000136153 ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202 T;T;T;T;T 0.45276 1.44;1.45;1.46;0.9;0.9 5.61 3.63 0.41609 . 0.382802 0.26146 N 0.026079 T 0.45034 0.1322 L 0.29908 0.895 0.30167 N 0.801653 D;D;D 0.71674 0.992;0.998;0.996 P;P;P 0.57679 0.731;0.825;0.791 T 0.48375 -0.9041 10 0.72032 D 0.01 -0.4401 11.9871 0.53153 0.6141:0.3859:0.0:0.0 . 180;271;219 E9PMS6;Q8WWI1-3;F8J2B5 .;.;. C 271;271;271;219;180 ENSP00000342112:R271C;ENSP00000349571:R271C;ENSP00000366757:R271C;ENSP00000366719:R219C;ENSP00000431129:R180C ENSP00000342112:R271C R + 1 0 LMO7 75273013 0.999000 0.42202 0.155000 0.22561 0.397000 0.30659 3.306000 0.51881 1.304000 0.44892 0.591000 0.81541 CGT LMO7-005 PUTATIVE alternative_5_UTR|not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000045301.3 + ENST00000321797.8 5'UTR SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB ZKSCAN1 7586 broad.mit.edu 37 7 99621184 99621184 + Missense_Mutation SNP G G A TCGA-P7-A5NY-01A-12D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68fd9953-4dca-40f6-a422-28b82a371e12 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr7:99621184G>A ENST00000324306.6 + 2.0 289 c.55G>A c.(55-57)Gag>Aag p.E19K ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_5'UTR NM_003439.1 NP_003430.1 P17029 ZKSC1_HUMAN zinc finger with KRAB and SCAN domains 1 19.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) p.E19K(1) 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) 25.0 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) GGCTGCACAGGAGAAGGATGG 0.557 1 Substitution - Missense(1) lung(1) 92.0 83.0 86.0 7 99621184.0 2203.0 4300.0 6503.0 SO:0001583 missense X52349 CCDS34698.1, CCDS69349.1, CCDS75640.1 7q22 2013-01-09 2004-11-16 2004-11-17 ENSG00000106261 ENSG00000106261 7586.0 7586.0 """Zinc fingers, C2H2-type"", ""-"", ""-"", ""-""" 13101.0 protein-coding gene gene with protein product 601260.0 """zinc finger protein 36 (KOX 18)""" ZNF139, ZNF36 Standard NM_003439 NM_001287055 Approved KOX18, PHZ-37, ZSCAN33 uc003usk.1 P17029 OTTHUMG00000156534 ENST00000324306.6:c.55G>A 7.__UNKNOWN__:g.99621184G>A ENSP00000323148:p.Glu19Lys A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7 __UNKNOWN__ CCDS34698.1 . . . . . . . . . . G 20.4 3.976960 0.74360 . . ENSG00000106261 ENST00000324306;ENST00000432317 T;T 0.08370 3.1;3.81 4.63 4.63 0.57726 . 0.121584 0.37178 N 0.002212 T 0.07728 0.0194 L 0.58810 1.83 0.80722 D 1 P 0.37781 0.608 B 0.26864 0.074 T 0.28364 -1.0046 10 0.14656 T 0.56 . 12.8515 0.57860 0.0:0.0:1.0:0.0 . 19 P17029 ZKSC1_HUMAN K 19 ENSP00000323148:E19K;ENSP00000394445:E19K ENSP00000323148:E19K E + 1 0 ZKSCAN1 99459120 1.000000 0.71417 1.000000 0.80357 0.926000 0.56050 3.045000 0.49838 2.398000 0.81561 0.484000 0.47621 GAG ZKSCAN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000344550.2 + ENST00000324306.6 Missense_Mutation SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB KBTBD12 166348 broad.mit.edu 37 3 127646684 127646684 + Missense_Mutation SNP T T C TCGA-P7-A5NY-01A-12D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68fd9953-4dca-40f6-a422-28b82a371e12 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr3:127646684T>C ENST00000407609.3 + 0.0 190 KBTBD12_ENST00000405256.1_Missense_Mutation_p.I383T|KBTBD12_ENST00000405109.1_Missense_Mutation_p.I383T|KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000343941.4_Intron Q3ZCT8 KBTBC_HUMAN kelch repeat and BTB (POZ) domain containing 12 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13.0 CTGGGCAGTATTCATAATGAC 0.373 0 131.0 139.0 136.0 3 127646684.0 2203.0 4300.0 6503.0 SO:0001623 5_prime_UTR_variant CCDS33848.2 3q21.3 2013-01-08 2009-10-01 2009-10-01 ENSG00000187715 ENSG00000187715 166348.0 166348.0 """BTB/POZ domain containing""" 25731.0 protein-coding gene gene with protein product """kelch domain containing 6""" KLHDC6 Standard NM_207335 NM_207335 Approved FLJ46299 uc010hsr.3 Q3ZCT8 OTTHUMG00000150508 ENST00000407609.3:c.-32T>C 3.__UNKNOWN__:g.127646684T>C B5MCC6|Q6ZRK1 __UNKNOWN__ . . . . . . . . . . T 14.24 2.476519 0.44044 . . ENSG00000187715 ENST00000405109;ENST00000405256 T;T 0.79141 -1.24;-1.24 5.94 5.94 0.96194 Kelch-type beta propeller (1); . . . . T 0.72676 0.3490 L 0.41710 1.295 0.09310 N 1 B 0.21905 0.062 B 0.27608 0.081 T 0.66404 -0.5932 9 0.87932 D 0 . 12.1936 0.54284 0.0:0.0679:0.0:0.9321 . 383 Q3ZCT8 KBTBC_HUMAN T 383 ENSP00000385957:I383T;ENSP00000385879:I383T ENSP00000385957:I383T I + 2 0 KBTBD12 129129374 0.376000 0.25098 0.006000 0.13384 0.960000 0.62799 4.227000 0.58612 2.265000 0.75225 0.482000 0.46254 ATT KBTBD12-001 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000318677.1 + ENST00000407609.3 5'UTR SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB HCN2 610 broad.mit.edu 37 19 605212 605212 + Missense_Mutation SNP A A G TCGA-P7-A5NY-01A-12D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68fd9953-4dca-40f6-a422-28b82a371e12 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr19:605212A>G ENST00000251287.2 + 3.0 1261 c.1208A>G c.(1207-1209)aAt>aGt p.N403S NM_001194.3 NP_001185.3 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 2 403.0 cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248) endometrium(5)|lung(4) 9.0 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGTCCATCAATGGCATGGTG 0.647 Melanoma(145;1175 2427 8056 36306) 0 75.0 60.0 65.0 19 605212.0 2202.0 4298.0 6500.0 SO:0001583 missense AF064877 CCDS12035.1 19p13 2011-07-05 ENSG00000099822 610.0 610.0 """Voltage-gated ion channels / Cyclic nucleotide-regulated channels""" 4846.0 protein-coding gene gene with protein product 602781.0 BCNG2 9405696, 9630217, 16382102 Standard NM_001194 NM_001194 Approved BCNG-2, HAC-1 uc002lpe.3 Q9UL51 ENST00000251287.2:c.1208A>G 19.__UNKNOWN__:g.605212A>G ENSP00000251287:p.Asn403Ser O60742|O60743|O75267|Q9UBS2 __UNKNOWN__ CCDS12035.1 . . . . . . . . . . . 17.86 3.492148 0.64074 . . ENSG00000099822 ENST00000251287 D 0.98822 -5.16 3.65 3.65 0.41850 Ion transport (1); . . . . D 0.97611 0.9217 M 0.71581 2.175 0.58432 D 0.999996 B 0.24963 0.115 B 0.34346 0.18 D 0.97146 0.9828 9 0.35671 T 0.21 . 11.4209 0.49980 1.0:0.0:0.0:0.0 . 403 Q9UL51 HCN2_HUMAN S 403 ENSP00000251287:N403S ENSP00000251287:N403S N + 2 0 HCN2 556212 1.000000 0.71417 0.993000 0.49108 0.913000 0.54294 9.116000 0.94341 1.409000 0.46915 0.324000 0.21423 AAT HCN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452100.1 + ENST00000251287.2 Missense_Mutation SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB IRAK4 51135 broad.mit.edu 37 12 44171441 44171441 + Missense_Mutation SNP A A G TCGA-P7-A5NY-01A-12D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68fd9953-4dca-40f6-a422-28b82a371e12 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr12:44171441A>G ENST00000448290.2 + 7.0 796 c.725A>G c.(724-726)cAt>cGt p.H242R IRAK4_ENST00000440781.2_Missense_Mutation_p.H118R|IRAK4_ENST00000431837.1_Missense_Mutation_p.H118R|IRAK4_ENST00000551736.1_Missense_Mutation_p.H242R NM_016123.3 NP_057207.2 Q9NWZ3 IRAK4_HUMAN interleukin-1 receptor-associated kinase 4 242.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124) cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) AGGTGTCAACATGAAAACTTA 0.303 0 134.0 121.0 125.0 12 44171441.0 2203.0 4300.0 6503.0 SO:0001583 missense AF155118 CCDS8744.1, CCDS44862.1 12q12 2014-09-17 ENSG00000198001 51135.0 51135.0 17967.0 protein-coding gene gene with protein product 606883.0 3772297, 10508479 Standard NM_001114182 Approved NY-REN-64 uc001rnt.3 Q9NWZ3 ENST00000448290.2:c.725A>G 12.__UNKNOWN__:g.44171441A>G ENSP00000390651:p.His242Arg Q69FE1|Q8TDF7|Q9Y589 __UNKNOWN__ CCDS8744.1 . . . . . . . . . . A 22.0 4.236558 0.79800 . . ENSG00000198001 ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736 T;T;T;T 0.78481 -1.18;-1.18;-1.18;-1.18 5.81 5.81 0.92471 Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 D 0.92766 0.7700 H 0.98276 4.19 0.80722 D 1 D 0.55385 0.971 D 0.68353 0.957 D 0.95396 0.8486 10 0.87932 D 0 -23.8683 16.1641 0.81743 1.0:0.0:0.0:0.0 . 242 Q9NWZ3 IRAK4_HUMAN R 118;118;242;242 ENSP00000408734:H118R;ENSP00000390327:H118R;ENSP00000390651:H242R;ENSP00000446490:H242R ENSP00000390327:H118R H + 2 0 IRAK4 42457708 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 8.509000 0.90529 2.211000 0.71520 0.477000 0.44152 CAT IRAK4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403947.1 + ENST00000448290.2 Missense_Mutation SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB ZNF780A 284323 broad.mit.edu 37 19 40581529 40581529 + Missense_Mutation SNP C C T TCGA-P7-A5NY-01A-12D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68fd9953-4dca-40f6-a422-28b82a371e12 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr19:40581529C>T ENST00000594395.1 - 5.0 937 c.823G>A c.(823-825)Gta>Ata p.V275I ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.V274I|ZNF780A_ENST00000450241.2_Missense_Mutation_p.V240I|ZNF780A_ENST00000414720.2_Intron O75290 Z780A_HUMAN zinc finger protein 780A 274.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31.0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TATGGTTTTACACCAGAATGA 0.388 0 172.0 176.0 174.0 19 40581529.0 2203.0 4300.0 6503.0 SO:0001583 missense AK091274 CCDS33026.2, CCDS46078.1, CCDS46079.1 19q13.2 2014-02-12 2006-08-15 ENSG00000197782 ENSG00000197782 284323.0 284323.0 """Zinc fingers, C2H2-type"", ""-""" 27603.0 protein-coding gene gene with protein product Standard NM_001010880 NM_001142577 Approved ZNF780 uc010xvh.2 O75290 OTTHUMG00000155119 ENST00000594395.1:c.823G>A 19.__UNKNOWN__:g.40581529C>T ENSP00000469786:p.Val275Ile E9PB48|Q6ZN87 __UNKNOWN__ CCDS46079.1 . . . . . . . . . . C 18.01 3.528602 0.64860 . . ENSG00000197782 ENST00000450241;ENST00000455521;ENST00000340963 T;T 0.18810 2.19;2.19 1.92 -0.891 0.10573 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.13200 0.0320 N 0.17674 0.51 0.25023 N 0.991324 P;P 0.35684 0.514;0.515 B;B 0.38156 0.216;0.266 T 0.24764 -1.0151 9 0.72032 D 0.01 . 6.0621 0.19844 0.0:0.6973:0.0:0.3027 . 275;274 E9PB48;O75290 .;Z780A_HUMAN I 274;275;274 ENSP00000400997:V275I;ENSP00000341507:V274I ENSP00000341507:V274I V - 1 0 ZNF780A 45273369 0.000000 0.05858 0.569000 0.28460 0.853000 0.48598 0.808000 0.27154 -0.307000 0.08804 0.305000 0.20034 GTA ZNF780A-008 KNOWN NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000462498.2 - ENST00000594395.1 Missense_Mutation SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB DNAH9 1770 broad.mit.edu 37 17 11642318 11642318 + Missense_Mutation SNP G G A TCGA-P7-A5NY-01A-12D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68fd9953-4dca-40f6-a422-28b82a371e12 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr17:11642318G>A ENST00000454412.2 + 29.0 5936 c.5936G>A c.(5935-5937)cGc>cAc p.R1979H DNAH9_ENST00000262442.4_Missense_Mutation_p.R1979H Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1979.0 AAA 1. {ECO:0000250}. cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283) axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774) 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) 290.0 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) TATGCTGGCCGCACAGAGCTG 0.478 0 74.0 70.0 71.0 17 11642318.0 2203.0 4300.0 6503.0 SO:0001583 missense U61740 CCDS11160.1, CCDS11161.1 17p12 2009-05-07 2006-09-04 ENSG00000007174 ENSG00000007174 1770.0 1770.0 """Axonemal dyneins""" 2953.0 protein-coding gene gene with protein product 603330.0 """dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9""" DNAH17L 8812413, 11247663 Standard NM_001372 NM_001372 Approved Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9 uc002gne.3 Q9NYC9 OTTHUMG00000130383 ENST00000454412.2:c.5936G>A 17.__UNKNOWN__:g.11642318G>A ENSP00000414874:p.Arg1979His A2VCQ8|O15064|O95494|Q9NQ28 __UNKNOWN__ . . . . . . . . . . G 32 5.137893 0.94517 . . ENSG00000007174 ENST00000262442;ENST00000454412;ENST00000413703 T;T 0.15017 2.46;2.46 5.94 5.94 0.96194 ATPase, AAA+ type, core (1); 0.000000 0.85682 D 0.000000 T 0.60495 0.2273 H 0.96970 3.915 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.73557 -0.3945 10 0.87932 D 0 . 20.3593 0.98849 0.0:0.0:1.0:0.0 . 1979 Q9NYC9 DYH9_HUMAN H 1979;1979;561 ENSP00000262442:R1979H;ENSP00000414874:R1979H ENSP00000262442:R1979H R + 2 0 DNAH9 11583043 1.000000 0.71417 1.000000 0.80357 0.683000 0.39861 9.670000 0.98625 2.807000 0.96579 0.591000 0.81541 CGC DNAH9-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000252758.4 + ENST00000454412.2 Missense_Mutation SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB SIMC1 375484 bcgsc.ca 37 5 175716682 175716682 + Missense_Mutation SNP C C T TCGA-P7-A5NY-01A-12D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 68fd9953-4dca-40f6-a422-28b82a371e12 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr5:175716682C>T ENST00000430704.2 + 2.0 271 SIMC1_ENST00000503595.1_3'UTR|SIMC1_ENST00000443967.1_Missense_Mutation_p.T33I|SIMC1_ENST00000429602.2_Missense_Mutation_p.T52I|SIMC1_ENST00000341199.6_Intron Q8NDZ2 SIMC1_HUMAN SUMO-interacting motifs containing 1 SUMO polymer binding (GO:0032184) ACTAGAGAGACCAGACCAAGG 0.408 0 66.0 61.0 63.0 5 175716682.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant BC037298 CCDS4398.2 5q35.2 2013-08-14 2012-11-14 2012-11-14 ENSG00000170085 ENSG00000170085 375484.0 375484.0 24779.0 protein-coding gene gene with protein product """oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation""" """chromosome 5 open reading frame 25""" C5orf25 23086935, 23707407 Standard NM_198567 NM_198567 Approved FLJ44216, OOMA1, PLEIAD uc003mds.4 Q8NDZ2 OTTHUMG00000130663 ENST00000430704.2:c.130-5351C>T 5.__UNKNOWN__:g.175716682C>T J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15 __UNKNOWN__ CCDS4398.2 . . . . . . . . . . C 16.33 3.093485 0.56075 . . ENSG00000170085 ENST00000443967;ENST00000429602 T;T 0.38240 1.89;1.15 4.55 3.67 0.42095 . 0.669254 0.13164 N 0.408782 T 0.35885 0.0947 . . . 0.09310 N 0.999996 P;P 0.48016 0.904;0.904 P;B 0.45099 0.469;0.305 T 0.12993 -1.0526 9 0.54805 T 0.06 -1.1385 9.9899 0.41865 0.2006:0.7994:0.0:0.0 . 52;33 B4DRM7;Q8NDZ2 .;CE025_HUMAN I 33;52 ENSP00000406571:T33I;ENSP00000410552:T52I ENSP00000410552:T52I T + 2 0 C5orf25 175649288 0.049000 0.20398 0.942000 0.38095 0.936000 0.57629 0.775000 0.26689 1.099000 0.41499 0.536000 0.68110 ACC SIMC1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000329099.2 + ENST00000430704.2 Intron SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB KCNN3 3782 ucsc.edu 37 1 154698426 154698426 + Missense_Mutation SNP T T C TCGA-P7-A5NY-01A-12D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 68fd9953-4dca-40f6-a422-28b82a371e12 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr1:154698426T>C ENST00000271915.4 - 5.0 1982 c.1667A>G c.(1666-1668)cAt>cGt p.H556R KCNN3_ENST00000358505.2_Missense_Mutation_p.H243R|KCNN3_ENST00000361147.4_Missense_Mutation_p.H251R NM_001204087.1|NM_002249.5 NP_001191016.1|NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 561.0 potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268) integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28.0 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) Miconazole(DB01110)|Procaine(DB00721) CATGAAGTTATGAACGTGCTT 0.567 0 134.0 110.0 118.0 1 154698426.0 2203.0 4300.0 6503.0 SO:0001583 missense AF031815 CCDS1072.1, CCDS30880.1, CCDS72928.1 1q21.3 2012-07-05 ENSG00000143603 ENSG00000143603 3782.0 3782.0 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated""" 6292.0 protein-coding gene gene with protein product 602983 9491810, 16382103 Standard NM_002249 NM_002249 Approved KCa2.3, hSK3, SKCA3 uc021pah.1 Q9UGI6 OTTHUMG00000037260 ENST00000271915.4:c.1667A>G 1.__UNKNOWN__:g.154698426T>C ENSP00000271915:p.His556Arg B1ANX0|O43517|Q86VF9|Q8WXG7 __UNKNOWN__ CCDS30880.1 . . . . . . . . . . T 16.69 3.193577 0.58017 . . ENSG00000143603 ENST00000361147;ENST00000271915;ENST00000358505 T;T;T 0.22134 1.97;1.97;1.97 4.38 4.38 0.52667 Calmodulin-binding domain (1); 0.102938 0.43919 D 0.000504 T 0.38161 0.1030 M 0.78916 2.43 0.58432 D 0.99999 D;B 0.57899 0.981;0.025 D;B 0.69824 0.966;0.073 T 0.35375 -0.9791 10 0.87932 D 0 -26.0488 14.3704 0.66836 0.0:0.0:0.0:1.0 . 561;251 Q9UGI6;Q9UGI6-2 KCNN3_HUMAN;. R 251;556;243 ENSP00000354764:H251R;ENSP00000271915:H556R;ENSP00000351295:H243R ENSP00000271915:H556R H - 2 0 KCNN3 152965050 1.000000 0.71417 1.000000 0.80357 0.969000 0.65631 7.825000 0.86693 2.206000 0.71126 0.529000 0.55759 CAT KCNN3-001 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090688.3 - ENST00000271915.4 Missense_Mutation SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB NELL1 4745 ucsc.edu 37 11 20869277 20869277 + Silent SNP C C T TCGA-P7-A5NY-01A-12D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 68fd9953-4dca-40f6-a422-28b82a371e12 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr11:20869277C>T ENST00000357134.5 + 4.0 636 c.484C>T c.(484-486)Ctg>Ttg p.L162L NELL1_ENST00000325319.5_Intron|NELL1_ENST00000532434.1_Silent_p.L162L|NELL1_ENST00000298925.5_Silent_p.L190L NM_006157.3|NM_201551.1 NP_006148.2|NP_963845.1 Q92832 NELL1_HUMAN NEL-like 1 (chicken) 162.0 Laminin G-like. cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471) calcium ion binding (GO:0005509) NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70.0 CTCTCATCTCCTGCTCCATGT 0.458 0 239.0 157.0 185.0 11 20869277.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK127805 CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1 11p15.1 2008-02-01 2001-11-28 ENSG00000165973 ENSG00000165973 4745.0 4745.0 7750.0 protein-coding gene gene with protein product 602319 """nel (chicken)-like 1""" 8975702 Standard NM_006157 NM_006157 Approved IDH3GL, FLJ45906 uc001mqe.3 Q92832 OTTHUMG00000166042 ENST00000357134.5:c.484C>T 11.__UNKNOWN__:g.20869277C>T B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472 __UNKNOWN__ CCDS7855.1 NELL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387588.1 + ENST00000357134.5 Silent SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB PRTG 283659 broad.mit.edu 37 15 55933315 55933315 + Silent SNP G G A TCGA-P7-A5NY-05A-11D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c4fc0e7-ba0e-49b5-a8b2-0b6ec20b2d8d 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr15:55933315G>A ENST00000389286.4 - 12.0 2180 c.2133C>T c.(2131-2133)tgC>tgT p.C711C NM_173814.4 NP_776175.2 protogenin breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41.0 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) ACTTACACACGCATCCTGGAG 0.448 0 G 0,3994 0,0,1997 122.0 119.0 120.0 2133 -7.8 0.5 15 120.0 5,8341 0,5,4168 no coding-synonymous PRTG NM_173814.4 0,5,6165 AA,AG,GG 0.0599,0.0,0.0405 711/1151 55933315.0 5,12335 1997.0 4173.0 6170.0 SO:0001819 synonymous_variant AK098622 CCDS42040.1 15q21.3 2013-02-11 2010-06-24 ENSG00000166450 ENSG00000166450 283659.0 283659.0 """Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 26373.0 protein-coding gene gene with protein product """immunoglobulin superfamily, DCC subclass, member 5""" 613261.0 """protogenin homolog (Gallus gallus)""" Standard NM_173814 NM_173814 Approved FLJ25756, IGDCC5 uc002adg.3 Q2VWP7 ENST00000389286.4:c.2133C>T 15.__UNKNOWN__:g.55933315G>A __UNKNOWN__ CCDS42040.1 PRTG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000419357.1 - ENST00000389286.4 Silent SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB TRPS1 7227 broad.mit.edu 37 8 116599567 116599567 + Silent SNP G G A TCGA-P7-A5NY-05A-11D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c4fc0e7-ba0e-49b5-a8b2-0b6ec20b2d8d 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr8:116599567G>A ENST00000395715.3 - 5.0 2938 c.2361C>T c.(2359-2361)gaC>gaT p.D787D TRPS1_ENST00000520276.1_Silent_p.D778D|TRPS1_ENST00000220888.5_Silent_p.D774D|TRPS1_ENST00000519076.1_Silent_p.D528D|TRPS1_ENST00000519674.1_Silent_p.D774D NM_001282902.1|NM_001282903.1|NM_014112.2 NP_001269831.1|NP_001269832.1|NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 774.0 Mediates interaction with GLI3. chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111.0 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CTTTGAGCCCGTCCTTCTCTT 0.507 Langer-Giedion syndrome 0 291.0 299.0 297.0 8 116599567.0 1953.0 4139.0 6092.0 SO:0001819 synonymous_variant Familial Cancer Database Trichorhinophalangeal syndrome type 2, TRPS II AF183810 CCDS6318.2, CCDS64957.1 8q23.3 2014-06-23 ENSG00000104447 ENSG00000104447 7227.0 7227.0 """GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type""" 12340.0 protein-coding gene gene with protein product 604386.0 8530105, 10615131, 10647898 Standard NM_014112 NM_001282903 Approved LGCR uc003yny.3 Q9UHF7 OTTHUMG00000142829 ENST00000395715.3:c.2361C>T 8.__UNKNOWN__:g.116599567G>A B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6 __UNKNOWN__ CCDS6318.2 TRPS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000286435.3 - ENST00000395715.3 Silent SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB CRAT 1384 broad.mit.edu 37 9 131860910 131860910 + Missense_Mutation SNP G G A TCGA-P7-A5NY-05A-11D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c4fc0e7-ba0e-49b5-a8b2-0b6ec20b2d8d 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr9:131860910G>A ENST00000318080.2 - 9.0 1399 c.1105C>T c.(1105-1107)Cgg>Tgg p.R369W RP11-247A12.1_ENST00000434250.1_RNA NM_000755.3|NM_001257363.1 NP_000746|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 369.0 carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810) endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777) carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13.0 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) AGGGGAGACCGCACAAGCTCG 0.607 0 118.0 104.0 109.0 9 131860910.0 2203.0 4300.0 6503.0 SO:0001583 missense X78706 CCDS6919.1 9q34.1 2010-04-27 2010-04-27 ENSG00000095321 ENSG00000095321 1384.0 1384.0 2.3.1.7 2342.0 protein-coding gene gene with protein product 600184.0 """carnitine acetyltransferase""" 7829107 Standard NM_000755 Approved CAT1 uc004bxh.3 P43155 OTTHUMG00000147343 ENST00000318080.2:c.1105C>T 9.__UNKNOWN__:g.131860910G>A ENSP00000315013:p.Arg369Trp Q5T952|Q9BW16 __UNKNOWN__ CCDS6919.1 . . . . . . . . . . G 17.77 3.470057 0.63625 . . ENSG00000095321 ENST00000351352;ENST00000318080 T 0.44482 0.92 5.13 3.1 0.35709 . 0.056122 0.64402 D 0.000002 T 0.54111 0.1838 M 0.74881 2.28 0.37868 D 0.929969 D 0.71674 0.998 P 0.54346 0.749 T 0.59542 -0.7435 10 0.27082 T 0.32 -40.4196 14.3146 0.66440 0.0:0.0:0.7749:0.2251 . 369 P43155 CACP_HUMAN W 288;369 ENSP00000315013:R369W ENSP00000315013:R369W R - 1 2 CRAT 130900731 0.019000 0.18553 0.765000 0.31456 0.694000 0.40290 1.150000 0.31639 0.670000 0.31165 0.561000 0.74099 CGG CRAT-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253700.1 - ENST00000318080.2 Missense_Mutation SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB LTBP2 4053 broad.mit.edu 37 14 75022242 75022242 + Nonsense_Mutation SNP G G A TCGA-P7-A5NY-05A-11D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c4fc0e7-ba0e-49b5-a8b2-0b6ec20b2d8d 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr14:75022242G>A ENST00000556690.1 - 4.0 1112 c.985C>T c.(985-987)Cag>Tag p.Q329* LTBP2_ENST00000261978.4_Nonsense_Mutation_p.Q329*|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 329.0 protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|heparin binding (GO:0008201) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58.0 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGTACCGCCTGTTGGGTGCCA 0.627 0 98.0 88.0 91.0 14 75022242.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained CCDS9831.1 14q24.3 2011-10-20 2001-12-04 ENSG00000119681 4053.0 4053.0 """Latent transforming growth factor, beta binding proteins""" 6715.0 protein-coding gene gene with protein product 602091.0 """chromosome 14 open reading frame 141""" LTBP3, C14orf141 7798248 Standard NM_000428 NM_000428 Approved uc001xqa.3 Q14767 ENST00000556690.1:c.985C>T 14.__UNKNOWN__:g.75022242G>A ENSP00000451477:p.Gln329* Q99907|Q9NS51 __UNKNOWN__ . . . . . . . . . . G 37 6.408900 0.97542 . . ENSG00000119681 ENST00000261978;ENST00000556690 . . . 5.12 5.12 0.69794 . 0.214284 0.23622 U 0.046228 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.44086 T 0.13 . 13.5661 0.61819 0.0:0.0:0.8454:0.1546 . . . . X 329 . ENSP00000261978:Q329X Q - 1 0 LTBP2 74091995 0.765000 0.28485 0.925000 0.36789 0.250000 0.25880 4.106000 0.57804 2.655000 0.90218 0.556000 0.70494 CAG LTBP2-003 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000413598.1 - ENST00000556690.1 Nonsense_Mutation SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB TSHZ3 57616 broad.mit.edu 37 19 31768209 31768209 + Silent SNP G G A TCGA-P7-A5NY-05A-11D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c4fc0e7-ba0e-49b5-a8b2-0b6ec20b2d8d 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr19:31768209G>A ENST00000240587.4 - 2.0 2817 c.2490C>T c.(2488-2490)gtC>gtT p.V830V NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 830.0 in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105) growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123.0 Esophageal squamous(110;0.226) TGAATGATACGACGGCAGATG 0.527 0 141.0 128.0 133.0 19 31768209.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AL136805 CCDS12421.2 19q13.11 2013-11-20 2007-07-16 2006-03-14 ENSG00000121297 ENSG00000121297 57616.0 57616.0 """Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type""" 30700.0 protein-coding gene gene with protein product """teashirt 3""" 614119.0 """zinc finger protein 537"", ""teashirt family zinc finger 3""" ZNF537 Standard NM_020856 NM_020856 Approved KIAA1474, TSH3 uc002nsy.4 Q63HK5 OTTHUMG00000150184 ENST00000240587.4:c.2490C>T 19.__UNKNOWN__:g.31768209G>A Q9H0G6|Q9P254 __UNKNOWN__ CCDS12421.2 TSHZ3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316743.2 - ENST00000240587.4 Silent SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB OCA2 4948 broad.mit.edu 37 15 28231750 28231750 + Missense_Mutation SNP C C T TCGA-P7-A5NY-05A-11D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c4fc0e7-ba0e-49b5-a8b2-0b6ec20b2d8d 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr15:28231750C>T ENST00000353809.5 - 11.0 1259 c.1150G>A c.(1150-1152)Gat>Aat p.D384N OCA2_ENST00000382996.2_Missense_Mutation_p.D408N|OCA2_ENST00000354638.3_Missense_Mutation_p.D408N Q04671 P_HUMAN oculocutaneous albinism II 408.0 cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828) cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162) L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215) p.D408N(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85.0 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GCACAATAATCGAAAAATCCC 0.294 Oculocutaneous Albinism 1 Substitution - Missense(1) pancreas(1) 96.0 102.0 100.0 15 28231750.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database CCDS10020.1, CCDS73701.1 15q12 2013-01-08 2008-01-30 ENSG00000104044 ENSG00000104044 4948.0 4948.0 8101.0 protein-coding gene gene with protein product """melanocyte-specific transporter protein""" 611409.0 """oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)""" D15S12, P, EYCL3, EYCL2 Standard NM_000275 NM_000275 Approved BEY2, EYCL, BEY, BEY1 uc001zbh.4 Q04671 OTTHUMG00000128871 ENST00000353809.5:c.1150G>A 15.__UNKNOWN__:g.28231750C>T ENSP00000261276:p.Asp384Asn Q15211|Q15212|Q96EN1|Q9UMI5 __UNKNOWN__ . . . . . . . . . . C 26.3 4.728546 0.89390 . . ENSG00000104044 ENST00000354638;ENST00000353809;ENST00000382996 D;D;D 0.93019 -3.15;-3.15;-3.15 5.57 5.57 0.84162 Divalent ion symporter (1); 0.000000 0.85682 D 0.000000 D 0.94879 0.8345 L 0.35487 1.065 0.49687 D 0.999811 D;D 0.89917 0.995;1.0 P;D 0.85130 0.84;0.997 D 0.95523 0.8596 10 0.87932 D 0 -22.9196 18.5465 0.91048 0.0:1.0:0.0:0.0 . 384;408 Q04671-2;Q04671 .;P_HUMAN N 408;384;408 ENSP00000346659:D408N;ENSP00000261276:D384N;ENSP00000372457:D408N ENSP00000261276:D384N D - 1 0 OCA2 25905345 1.000000 0.71417 1.000000 0.80357 0.969000 0.65631 6.677000 0.74503 2.616000 0.88540 0.557000 0.71058 GAT OCA2-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000250824.1 - ENST00000353809.5 Missense_Mutation SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB TNPO2 30000 broad.mit.edu 37 19 12830109 12830110 + Frame_Shift_Ins INS - - T TCGA-P7-A5NY-05A-11D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c4fc0e7-ba0e-49b5-a8b2-0b6ec20b2d8d 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr19:12830109_12830110insT ENST00000450764.2 - 2.0 877_878 c.140_141insA c.(139-141)tacfs p.Y47fs TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000356861.5_Frame_Shift_Ins_p.Y47fs|TNPO2_ENST00000592287.1_Frame_Shift_Ins_p.Y47fs|TNPO2_ENST00000588216.1_Frame_Shift_Ins_p.Y47fs|TNPO2_ENST00000441499.1_Frame_Shift_Ins_p.Y47fs|TNPO2_ENST00000425528.1_Frame_Shift_Ins_p.Y47fs O14787 TNPO2_HUMAN transportin 2 47.0 Importin N-terminal. intracellular protein transport (GO:0006886) cytoplasm (GO:0005737)|nucleus (GO:0005634) nuclear localization sequence binding (GO:0008139) autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28.0 CGAAAATCAGGTAGTTGTTGAA 0.545 0 SO:0001589 frameshift_variant AF019039 CCDS45991.1, CCDS45992.1 19p13.13 2009-01-12 2009-01-12 ENSG00000105576 30000.0 30000.0 """Importins""" 19998.0 protein-coding gene gene with protein product """importin 3"", ""karyopherin beta 2b""" 603002.0 9298975, 12384575 Standard NM_013433 NM_013433 Approved IPO3, KPNB2B, FLJ12155, TRN2 uc002muo.3 O14787 ENST00000450764.2:c.141dupA 19.__UNKNOWN__:g.12830110_12830110dupT ENSP00000397379:p.Tyr47fs O14655|Q6IN77 __UNKNOWN__ CCDS45992.1 TNPO2-005 KNOWN alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000450783.1 - ENST00000450764.2 Frame_Shift_Ins INS PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB COG1 9382 bcgsc.ca 37 17 71203327 71203327 + Missense_Mutation SNP C C T TCGA-P7-A5NY-05A-11D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 0c4fc0e7-ba0e-49b5-a8b2-0b6ec20b2d8d 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr17:71203327C>T ENST00000299886.4 + 13.0 2817 c.2737C>T c.(2737-2739)Ctt>Ttt p.L913F NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 913.0 Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031) Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18.0 LUSC - Lung squamous cell carcinoma(166;0.197) GAGGTTTGGACTTCTCCCACT 0.443 0 104.0 103.0 103.0 17 71203327.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS11692.1 17q25.1 2008-05-14 2002-05-28 2002-05-31 ENSG00000166685 9382.0 9382.0 """Components of oligomeric golgi complex""" 6545.0 protein-coding gene gene with protein product 606973 """low density lipoprotein receptor defect B complementing""" LDLB 9927668 Standard NM_018714 Approved KIAA1381 uc002jjg.3 Q8WTW3 ENST00000299886.4:c.2737C>T 17.__UNKNOWN__:g.71203327C>T ENSP00000299886:p.Leu913Phe Q9NPV9|Q9P2G6 __UNKNOWN__ CCDS11692.1 . . . . . . . . . . C 13.52 2.260734 0.39995 . . ENSG00000166685 ENST00000438720;ENST00000299886 T;T 0.35973 1.35;1.28 5.87 4.9 0.64082 . 0.000000 0.85682 D 0.000000 T 0.60379 0.2264 M 0.74258 2.255 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.999;0.999;0.999 T 0.64411 -0.6414 10 0.56958 D 0.05 -19.35 14.9267 0.70884 0.0:0.9315:0.0:0.0685 . 913;913;913 E9PBL8;Q8WTW3;Q4G0L8 .;COG1_HUMAN;. F 913 ENSP00000400111:L913F;ENSP00000299886:L913F ENSP00000299886:L913F L + 1 0 COG1 68714922 1.000000 0.71417 0.999000 0.59377 0.990000 0.78478 4.497000 0.60367 1.487000 0.48415 0.591000 0.81541 CTT COG1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000441638.1 + ENST00000299886.4 Missense_Mutation SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB Unknown 0 bcgsc.ca 37 20 18200833 18200833 + RNA SNP G G A TCGA-P7-A5NY-05A-11D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 0c4fc0e7-ba0e-49b5-a8b2-0b6ec20b2d8d 87bae02a-0994-4ce5-a27b-72494a4a1b5f g.chr20:18200833G>A CSRP2BP (31802 upstream) : RN7SL14P (38366 downstream) GCAACCTGCTGACTGAGAGAT 0.532 0 SO:0001628 intergenic_variant 20.__UNKNOWN__:g.18200833G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-P7-A5NY-Normal-SM-5EQHB EDAR 10913 broad.mit.edu 37 2 109545753 109545753 + Missense_Mutation SNP A A G TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr2:109545753A>G ENST00000258443.2 - 4.0 687 c.257T>C c.(256-258)aTa>aCa p.I86T EDAR_ENST00000376651.1_Missense_Mutation_p.I86T|EDAR_ENST00000409271.1_Missense_Mutation_p.I86T NM_022336.3 NP_071731.1 Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 86.0 apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662) apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16.0 ACGCCTGCATATCTGGTAGCC 0.607 0 88.0 79.0 82.0 2 109545753.0 2203.0 4300.0 6503.0 SO:0001583 missense AF130988 CCDS2081.1 2q13 2013-05-22 2004-08-09 ENSG00000135960 ENSG00000135960 10913.0 10913.0 """Tumor necrosis factor receptor superfamily""" 2895.0 protein-coding gene gene with protein product 604095.0 """ectodysplasin 1, anhidrotic receptor""" ED3, DL 10431241, 9375732 Standard NM_022336 Approved ED5, EDA3, Edar, ED1R, EDA1R uc002teq.4 Q9UNE0 OTTHUMG00000130982 ENST00000258443.2:c.257T>C 2.__UNKNOWN__:g.109545753A>G ENSP00000258443:p.Ile86Thr B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9 __UNKNOWN__ CCDS2081.1 . . . . . . . . . . A 18.92 3.724905 0.68959 . . ENSG00000135960 ENST00000409271;ENST00000258443;ENST00000376651 D;D;D 0.90324 -2.63;-2.65;-2.63 5.25 5.25 0.73442 . 0.150821 0.56097 D 0.000027 D 0.92397 0.7587 L 0.41415 1.275 0.80722 D 1 D;D 0.76494 0.999;0.993 D;D 0.78314 0.991;0.977 D 0.91001 0.4842 10 0.27785 T 0.31 -25.4706 15.1586 0.72764 1.0:0.0:0.0:0.0 . 86;86 E9PC98;Q9UNE0 .;EDAR_HUMAN T 86 ENSP00000386371:I86T;ENSP00000258443:I86T;ENSP00000365839:I86T ENSP00000258443:I86T I - 2 0 EDAR 108912185 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 8.850000 0.92190 1.980000 0.57719 0.379000 0.24179 ATA EDAR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253595.1 - ENST00000258443.2 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN ARNT 0 broad.mit.edu 37 1 150812108 150812108 + Missense_Mutation SNP G G A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr1:150812108G>A ENST00000354396.2 - 6.0 306 c.295C>T c.(295-297)Cgg>Tgg p.R99W ARNT_ENST00000505755.1_Missense_Mutation_p.R84W|ARNT_ENST00000515192.1_Missense_Mutation_p.R90W|ARNT_ENST00000358595.5_Missense_Mutation_p.R99W P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 99.0 Poly-Arg.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}. cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34.0 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) CGTCGCCGCCGTTCAATTTCA 0.493 T ETV6 AML Dom yes 1 1q21 405.0 aryl hydrocarbon receptor nuclear translocator L 0 117.0 107.0 110.0 1 150812108.0 2203.0 4300.0 6503.0 SO:0001583 missense AF001307 CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1 1q21 2013-05-21 ENSG00000143437 ENSG00000143437 405.0 """Basic helix-loop-helix proteins""" 700.0 protein-coding gene gene with protein product 126110.0 Standard NM_001668 Approved HIF-1beta, bHLHe2 uc001evr.2 P27540 OTTHUMG00000035011 ENST00000354396.2:c.295C>T 1.__UNKNOWN__:g.150812108G>A ENSP00000346372:p.Arg99Trp B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7 __UNKNOWN__ . . . . . . . . . . G 27.3 4.820176 0.90873 . . ENSG00000143437 ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755 D;D;D;D 0.99089 -5.41;-5.41;-5.41;-5.41 6.17 5.24 0.73138 Helix-loop-helix DNA-binding (5); 0.000000 0.85682 D 0.000000 D 0.99402 0.9789 M 0.91872 3.25 0.80722 D 1 D;D;D;D;D;D;D 0.89917 1.0;0.997;0.998;0.999;0.999;0.999;1.0 D;D;D;D;D;D;D 0.97110 0.976;0.923;0.944;0.982;0.982;0.954;1.0 D 0.98444 1.0588 10 0.87932 D 0 . 16.4222 0.83766 0.0:0.0:0.8585:0.1415 . 83;99;84;99;90;84;99 B4E3L5;A6NGV6;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540 .;.;.;.;.;.;ARNT_HUMAN W 99;99;99;90;83;84 ENSP00000351407:R99W;ENSP00000346372:R99W;ENSP00000423851:R90W;ENSP00000427571:R84W ENSP00000346372:R99W R - 1 2 ARNT 149078732 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 3.078000 0.50096 1.555000 0.49500 0.655000 0.94253 CGG ARNT-010 NOVEL basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000360630.1 - ENST00000354396.2 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN FN1 2335 broad.mit.edu 37 2 216273109 216273109 + Silent SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr2:216273109C>T ENST00000354785.4 - 16.0 2709 c.2340G>A c.(2338-2340)ctG>ctA p.L780L FN1_ENST00000443816.1_Silent_p.L780L|FN1_ENST00000432072.2_Silent_p.L780L|FN1_ENST00000357009.2_Silent_p.L780L|FN1_ENST00000323926.6_Silent_p.L780L|FN1_ENST00000446046.1_Silent_p.L780L|FN1_ENST00000346544.3_Silent_p.L780L|FN1_ENST00000421182.1_Silent_p.L780L|FN1_ENST00000345488.5_Silent_p.L780L|FN1_ENST00000357867.4_Silent_p.L780L|FN1_ENST00000356005.4_Silent_p.L780L|FN1_ENST00000336916.4_Silent_p.L780L|FN1_ENST00000359671.1_Silent_p.L780L P02751 FINC_HUMAN fibronectin 1 780.0 Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}. acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446) apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093) collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020) 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) 109.0 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) Ocriplasmin(DB08888) GGCCAGGAAGCAGGTCAGGGA 0.423 0 91.0 86.0 88.0 2 216273109.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1 2q34 2014-01-30 ENSG00000115414 ENSG00000115414 2335.0 2335.0 """Fibronectin type III domain containing"", ""Endogenous ligands""" 3778.0 protein-coding gene gene with protein product """migration-stimulating factor"", ""cold-insoluble globulin""" 135600.0 2992939, 3003095 Standard NM_212476 NM_054034 Approved MSF, CIG, LETS, GFND2, FINC uc002vfa.3 P02751 OTTHUMG00000133054 ENST00000354785.4:c.2340G>A 2.__UNKNOWN__:g.216273109C>T B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2 __UNKNOWN__ CCDS42814.1 FN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256667.2 - ENST00000354785.4 Silent SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN JAM3 83700 broad.mit.edu 37 11 134014247 134014247 + Missense_Mutation SNP G G A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr11:134014247G>A ENST00000441717.3 + 4.0 269 JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000299106.4_Missense_Mutation_p.R123H|JAM3_ENST00000529443.2_Missense_Mutation_p.R168H NM_001205329.1 NP_001192258.1 Q9BX67 JAM3_HUMAN junctional adhesion molecule 3 adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226) cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923) integrin binding (GO:0005178) breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1) 10.0 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) CGAAATGACCGCAAGGAAATT 0.488 0 184.0 150.0 162.0 11 134014247.0 2201.0 4297.0 6498.0 SO:0001627 intron_variant AF356518 CCDS8494.1, CCDS55799.1, CCDS8494.2 11q25 2013-01-29 ENSG00000166086 ENSG00000166086 83700.0 83700.0 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 15532.0 protein-coding gene gene with protein product 606871.0 Standard NM_032801 NM_032801 Approved JAM-C, JAMC uc001qhb.3 Q9BX67 OTTHUMG00000167130 ENST00000441717.3:c.257-440G>A 11.__UNKNOWN__:g.134014247G>A B3KWG9|Q8WWL8|Q96FL1 __UNKNOWN__ CCDS55799.1 . . . . . . . . . . G 13.47 2.246259 0.39697 . . ENSG00000166086 ENST00000299106 T 0.12672 2.66 5.03 0.443 0.16587 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.575467 0.18973 N 0.126091 T 0.05686 0.0149 N 0.12471 0.22 0.27938 N 0.937632 B 0.12630 0.006 B 0.12156 0.007 T 0.24977 -1.0145 10 0.42905 T 0.14 . 1.7526 0.02975 0.2621:0.1914:0.4165:0.1301 . 123 Q9BX67 JAM3_HUMAN H 168 ENSP00000299106:R168H ENSP00000299106:R168H R + 2 0 JAM3 133519457 0.023000 0.18921 0.996000 0.52242 0.921000 0.55340 0.664000 0.25068 0.141000 0.18875 0.561000 0.74099 CGC JAM3-002 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000393304.3 + ENST00000441717.3 Intron SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN MAGED1 9500 broad.mit.edu 37 X 51637809 51637809 + Silent SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chrX:51637809C>T ENST00000375722.1 + 3.0 297 MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000375695.2_Silent_p.C44C|MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000494718.1_Intron Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355) chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234) transcription coactivator activity (GO:0003713) p.C44C(1) breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32.0 Ovarian(276;0.236) CCACTCTGTGCGACCCCCCTT 0.602 Multiple Myeloma(10;0.10) 1 Substitution - coding silent(1) large_intestine(1) 72.0 62.0 66.0 X 51637809.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AF124440 CCDS14337.1, CCDS35279.1 Xp11.23 2008-08-01 ENSG00000179222 ENSG00000179222 9500.0 9500.0 6813.0 protein-coding gene gene with protein product 300224.0 10409427 Standard NM_001005332 NM_006986 Approved NRAGE, DLXIN-1 uc004dpn.3 Q9Y5V3 OTTHUMG00000021540 ENST00000375722.1:c.46-340C>T X.__UNKNOWN__:g.51637809C>T Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36 __UNKNOWN__ CCDS14337.1 MAGED1-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056593.1 + ENST00000375722.1 Intron SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN HLX 3142 broad.mit.edu 37 1 221053618 221053618 + Missense_Mutation SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr1:221053618C>T ENST00000366903.6 + 1.0 1920 c.419C>T c.(418-420)cCt>cTt p.P140L NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 140.0 Pro-rich. cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32.0 GBM - Glioblastoma multiforme(131;0.00914) cagcCTCCGCCTCCGCCCCGG 0.711 0 14.0 21.0 18.0 1 221053618.0 2190.0 4273.0 6463.0 SO:0001583 missense BC033808 CCDS1527.1 1q41 2011-06-20 2007-07-26 2007-07-26 ENSG00000136630 ENSG00000136630 3142.0 3142.0 """Homeoboxes / ANTP class : NKL subclass""" 4978.0 protein-coding gene gene with protein product 142995.0 """H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1""" HLX1 1676597, 7806220 Standard NM_021958 NM_021958 Approved HB24 uc001hmv.4 Q14774 OTTHUMG00000037352 ENST00000366903.6:c.419C>T 1.__UNKNOWN__:g.221053618C>T ENSP00000355870:p.Pro140Leu B2R8A8|Q15988|Q59HE7|Q9NZ75 __UNKNOWN__ CCDS1527.1 . . . . . . . . . . C 12.80 2.045138 0.36085 . . ENSG00000136630 ENST00000366903 T 0.29655 1.56 4.77 3.86 0.44501 . 0.379571 0.22425 N 0.060234 T 0.14485 0.0350 N 0.08118 0 0.26623 N 0.972618 B 0.27823 0.19 B 0.24006 0.05 T 0.11542 -1.0583 10 0.51188 T 0.08 -2.9407 7.1913 0.25826 0.0:0.8039:0.0:0.1961 . 140 Q14774 HLX_HUMAN L 140 ENSP00000355870:P140L ENSP00000355870:P140L P + 2 0 HLX 219120241 0.364000 0.24997 0.019000 0.16419 0.053000 0.15095 4.624000 0.61254 1.239000 0.43787 0.655000 0.94253 CCT HLX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090902.3 + ENST00000366903.6 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN PTPN3 0 broad.mit.edu 37 9 112185069 112185070 + Missense_Mutation DNP CC CC TA TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr9:112185069_112185070CC>TA ENST00000374541.2 - 13.0 1168_1169 c.1064_1065GG>TA c.(1063-1065)cGG>cTA p.R355L PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000412145.1_Missense_Mutation_p.R224L|PTPN3_ENST00000262539.3_Intron NM_001145368.1|NM_002829.3 NP_001138840.1|NP_002820.3 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 355.0 negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649) cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856) ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080) 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) 41.0 ATAAGGATCTCCGCATGGCTGG 0.455 0 SO:0001583 missense CCDS6776.1, CCDS48000.1, CCDS48001.1 9q31 2011-06-09 ENSG00000070159 ENSG00000070159 5774.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor""" 9655.0 protein-coding gene gene with protein product 176877.0 1648725 Standard NM_002829 Approved PTPH1 uc004bed.2 P26045 OTTHUMG00000020475 ENST00000374541.2:c.1064_1065delinsTA 9.__UNKNOWN__:g.112185069_112185070delinsTA ENSP00000363667:p.Arg355Leu A0AUW9|E7EN99|E9PGU7 __UNKNOWN__ CCDS6776.1 PTPN3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053598.4 - ENST00000374541.2 Missense_Mutation DNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN NAA30 122830 broad.mit.edu 37 14 57858352 57858352 + Missense_Mutation SNP A A G TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr14:57858352A>G ENST00000554703.1 + 1.0 118 NAA30_ENST00000555166.1_Intron|NAA30_ENST00000556492.1_Missense_Mutation_p.D226G Q147X3 NAA30_HUMAN N(alpha)-acetyltransferase 30, NatC catalytic subunit metabolic process (GO:0008152) cytoplasm (GO:0005737)|NatC complex (GO:0031417) peptide alpha-N-acetyltransferase activity (GO:0004596) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 13.0 CAAATGCCCGATATCATGAGA 0.488 0 164.0 185.0 178.0 14 57858352.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AK092674 CCDS32088.1 14q22.2 2010-05-07 2010-01-14 2010-01-14 ENSG00000139977 122830.0 122830.0 2.3.1.88 """N(alpha)-acetyltransferase subunits""" 19844.0 protein-coding gene gene with protein product """chromosome 14 open reading frame 35"", ""N-acetyltransferase 12"", ""N-acetyltransferase 12 (GCN5-related, putative)""" C14orf35, NAT12 19660095 Standard NM_001011713 NM_001011713 Approved FLJ35355, MAK3, Mak3p uc001xcx.4 Q147X3 ENST00000554703.1:c.-4+929A>G 14.__UNKNOWN__:g.57858352A>G Q0IIN2 __UNKNOWN__ . . . . . . . . . . A 12.90 2.077055 0.36662 . . ENSG00000139977 ENST00000556492;ENST00000395257 T 0.68181 -0.31 4.47 4.47 0.54385 GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2); 0.146714 0.50627 D 0.000104 T 0.63046 0.2478 L 0.59436 1.845 0.80722 D 1 B 0.22909 0.077 B 0.24269 0.052 T 0.62388 -0.6865 10 0.40728 T 0.16 -10.9665 13.9309 0.63994 1.0:0.0:0.0:0.0 . 226 Q147X3 NAA30_HUMAN G 226;189 ENSP00000452521:D226G ENSP00000298406:D226G D + 2 0 NAA30 56928105 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 6.719000 0.74718 1.872000 0.54250 0.533000 0.62120 GAT NAA30-003 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000412926.1 + ENST00000554703.1 Intron SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN OR8J3 81168 broad.mit.edu 37 11 55905035 55905035 + Missense_Mutation SNP G G C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr11:55905035G>C ENST00000301529.1 - 1.0 159 c.160C>G c.(160-162)Cga>Gga p.R54G NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 54.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59.0 Esophageal squamous(21;0.00693) TTTTGAAGTCGAGAGTCAACA 0.473 0 147.0 142.0 144.0 11 55905035.0 2201.0 4296.0 6497.0 SO:0001583 missense CCDS31520.1 11q12.2 2012-08-09 ENSG00000167822 ENSG00000167822 81168.0 81168.0 """GPCR / Class A : Olfactory receptors""" 15312.0 protein-coding gene gene with protein product Standard NM_001004064 NM_001004064 Approved uc010riz.2 Q8NGG0 OTTHUMG00000166834 ENST00000301529.1:c.160C>G 11.__UNKNOWN__:g.55905035G>C ENSP00000301529:p.Arg54Gly Q6IFB6|Q96RC2 __UNKNOWN__ CCDS31520.1 . . . . . . . . . . G 6.013 0.370736 0.11409 . . ENSG00000167822 ENST00000301529 T 0.01133 5.29 3.26 -2.42 0.06542 GPCR, rhodopsin-like superfamily (1); 0.400945 0.21579 N 0.072267 T 0.01454 0.0047 M 0.71581 2.175 0.09310 N 1 B 0.15719 0.014 B 0.21151 0.033 T 0.42481 -0.9449 10 0.66056 D 0.02 . 3.1093 0.06352 0.0914:0.1358:0.3078:0.4649 . 54 Q8NGG0 OR8J3_HUMAN G 54 ENSP00000301529:R54G ENSP00000301529:R54G R - 1 2 OR8J3 55661611 0.000000 0.05858 0.000000 0.03702 0.311000 0.27955 -0.264000 0.08658 -0.333000 0.08476 0.289000 0.19496 CGA OR8J3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000391542.1 - ENST00000301529.1 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN STK25 10494 broad.mit.edu 37 2 242439665 242439665 + Missense_Mutation SNP A A C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr2:242439665A>C ENST00000316586.4 - 5.0 699 c.350T>G c.(349-351)aTt>aGt p.I117S STK25_ENST00000543554.1_Missense_Mutation_p.I23S|STK25_ENST00000405585.1_Missense_Mutation_p.I40S|STK25_ENST00000401869.1_Missense_Mutation_p.I117S|STK25_ENST00000405883.3_Missense_Mutation_p.I40S|STK25_ENST00000535007.1_Missense_Mutation_p.I23S|STK25_ENST00000403346.3_Missense_Mutation_p.I117S NM_001271977.1|NM_001271978.1|NM_001282308.1 NP_001258906.1|NP_001258907.1|NP_001269237.1 O00506 STK25_HUMAN serine/threonine kinase 25 117.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 10.0 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) GATCGTGGCAATGTATGTCTC 0.587 NSCLC(99;1100 1566 7679 28647 48345) 0 114.0 108.0 110.0 2 242439665.0 2203.0 4300.0 6503.0 SO:0001583 missense D63780 CCDS2549.1, CCDS63199.1, CCDS63200.1 2q37.3 2010-06-25 2010-06-25 ENSG00000115694 ENSG00000115694 10494.0 10494.0 11404.0 protein-coding gene gene with protein product 602255.0 """serine/threonine kinase 25 (Ste20, yeast homolog)""" 8887545, 9160885, 15037601 Standard NM_006374 NM_001271977 Approved SOK1, YSK1 uc002wbp.4 O00506 OTTHUMG00000133408 ENST00000316586.4:c.350T>G 2.__UNKNOWN__:g.242439665A>C ENSP00000325748:p.Ile117Ser A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1 __UNKNOWN__ CCDS2549.1 . . . . . . . . . . A 27.5 4.835680 0.91117 . . ENSG00000115694 ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007;ENST00000450497;ENST00000424537;ENST00000442307;ENST00000413760;ENST00000429279;ENST00000436402;ENST00000440109;ENST00000435225 T;T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.68624 -0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34 4.97 4.97 0.65823 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.79505 0.4457 M 0.62154 1.92 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 1.0;1.0;1.0;1.0 T 0.82041 -0.0654 10 0.87932 D 0 . 14.9686 0.71213 1.0:0.0:0.0:0.0 . 117;43;40;117 B4DZ52;B4DVS7;A8K6Z3;O00506 .;.;.;STK25_HUMAN S 117;117;117;40;23;40;23;23;23;21;23;23;23;117;23;23 ENSP00000325748:I117S;ENSP00000384162:I117S;ENSP00000385687:I117S;ENSP00000384444:I40S;ENSP00000385541:I40S;ENSP00000444886:I23S;ENSP00000446008:I23S;ENSP00000399212:I23S;ENSP00000417020:I21S;ENSP00000403607:I23S;ENSP00000395104:I23S;ENSP00000404960:I23S;ENSP00000412617:I117S;ENSP00000403866:I23S;ENSP00000401114:I23S ENSP00000325748:I117S I - 2 0 STK25 242088338 1.000000 0.71417 0.998000 0.56505 0.970000 0.65996 9.092000 0.94157 1.990000 0.58119 0.533000 0.62120 ATT STK25-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257265.4 - ENST00000316586.4 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN SVOP 55530 broad.mit.edu 37 12 109332604 109332604 + Splice_Site SNP T T C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr12:109332604T>C ENST00000299134.5 - 7.0 699 c.700A>G c.(700-702)Agg>Ggg p.R234G NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0.0 cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021) ion transmembrane transporter activity (GO:0015075) breast(2)|lung(4) 6.0 GGCACTGACCTGTCTGGAGAT 0.542 0 340.0 346.0 344.0 12 109332604.0 2139.0 4243.0 6382.0 SO:0001630 splice_region_variant BC033587 CCDS73520.1 12q24.11 2011-07-12 ENSG00000166111 55530.0 55530.0 25417.0 protein-coding gene gene with protein product 611699.0 Standard NM_018711 NM_018711 Approved DKFZp761H039 uc010sxh.1 Q8N4V2 ENST00000299134.5:c.701+1A>G 12.__UNKNOWN__:g.109332604T>C Q9NPW5 __UNKNOWN__ . . . . . . . . . . T 16.29 3.082787 0.55861 . . ENSG00000166111 ENST00000299134 . . . 5.54 5.54 0.83059 . . . . . T 0.60792 0.2296 L 0.47716 1.5 . . . . . . . . . T 0.67333 -0.5697 4 . . . -20.671 13.6427 0.62260 0.0:0.0:0.0:1.0 . . . . G 234 . . R - 1 2 SVOP 107856733 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 7.181000 0.77682 2.103000 0.63969 0.533000 0.62120 AGG SVOP-001 KNOWN mRNA_start_NF|cds_start_NF|basic protein_coding protein_coding OTTHUMT00000403982.1 Missense_Mutation - ENST00000299134.5 Splice_Site SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN CSMD2 114784 broad.mit.edu 37 1 34090179 34090179 + Silent SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr1:34090179C>T ENST00000373380.1 - 14.0 2404 c.2184G>A c.(2182-2184)ccG>ccA p.P728P CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.P1855P|CSMD2_ENST00000373377.1_5'UTR Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1815.0 Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}. integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) 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) 246.0 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGTTGAGGTACGGCTCTGGGA 0.662 0 125.0 102.0 110.0 1 34090179.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AY210418 CCDS380.1, CCDS60082.1 1p34.3 2014-01-28 ENSG00000121904 ENSG00000121904 114784.0 114784.0 19290.0 protein-coding gene gene with protein product 608398.0 11472063, 11572484 Standard NM_052896 NM_001281956 Approved KIAA1884 uc001bxn.1 Q7Z408 OTTHUMG00000011135 ENST00000373380.1:c.2184G>A 1.__UNKNOWN__:g.34090179C>T B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7 __UNKNOWN__ CSMD2-002 KNOWN basic protein_coding protein_coding OTTHUMT00000030635.4 - ENST00000373380.1 Silent SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN MYO5A 4644 broad.mit.edu 37 15 52646099 52646099 + Missense_Mutation SNP T T G TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr15:52646099T>G ENST00000399231.3 - 26.0 3779 c.3536A>C c.(3535-3537)aAg>aCg p.K1179T MYO5A_ENST00000356338.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000399233.2_Missense_Mutation_p.K1179T|MYO5A_ENST00000553916.1_Missense_Mutation_p.K1179T|MYO5A_ENST00000358212.6_Missense_Mutation_p.K1179T NM_000259.3 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1179.0 actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601) actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137) breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57.0 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) CTGCTCCTCCTTGCGGTCCAG 0.562 0 110.0 117.0 114.0 15 52646099.0 2102.0 4221.0 6323.0 SO:0001583 missense CCDS42037.1, CCDS45262.1 15q21 2014-09-17 2006-09-29 ENSG00000197535 ENSG00000197535 4644.0 4644.0 """Myosins / Myosin superfamily : Class V""" 7602.0 protein-coding gene gene with protein product """myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V""" 160777.0 """myosin VA (heavy polypeptide 12, myoxin)""" MYH12 8188282, 8022818 Standard NM_000259 NM_000259 Approved MYO5, GS1, MYR12 uc002aby.2 Q9Y4I1 OTTHUMG00000137383 ENST00000399231.3:c.3536A>C 15.__UNKNOWN__:g.52646099T>G ENSP00000382177:p.Lys1179Thr A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31 __UNKNOWN__ CCDS42037.1 . . . . . . . . . . T 16.72 3.200721 0.58126 . . ENSG00000197535 ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916 T;T;T;T;T 0.20598 2.06;2.06;2.06;2.06;2.06 6.07 1.29 0.21616 . 0.142257 0.64402 D 0.000006 T 0.14960 0.0361 L 0.27053 0.805 0.48341 D 0.999636 P;P 0.46142 0.57;0.873 B;P 0.46076 0.104;0.503 T 0.08889 -1.0700 10 0.13470 T 0.59 . 9.66 0.39950 0.0:0.2493:0.0:0.7507 . 1179;1179 Q9Y4I1;Q9Y4I1-2 MYO5A_HUMAN;. T 1179;713;1179;1179;1179;809;1179 ENSP00000382177:K1179T;ENSP00000382179:K1179T;ENSP00000348693:K1179T;ENSP00000350945:K1179T;ENSP00000451109:K1179T ENSP00000348693:K1179T K - 2 0 MYO5A 50433391 1.000000 0.71417 0.995000 0.50966 0.998000 0.95712 3.062000 0.49971 -0.027000 0.13873 0.533000 0.62120 AAG MYO5A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000268102.1 - ENST00000399231.3 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN INPP5D 3635 broad.mit.edu 37 2 234102471 234102471 + Silent SNP T T C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr2:234102471T>C ENST00000359570.5 + 25.0 2424 c.2424T>C c.(2422-2424)atT>atC p.I808I INPP5D_ENST00000455936.2_Silent_p.I572I|INPP5D_ENST00000450745.1_Silent_p.I572I Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 820.0 apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852) cytosol (GO:0005829)|membrane (GO:0016020) inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594) central_nervous_system(1)|ovary(1) 2.0 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) AGGGCTGCATTGCCCTTCGGT 0.582 NSCLC(82;1215 1426 16163 20348 41018) 0 94.0 94.0 94.0 2 234102471.0 2029.0 4186.0 6215.0 SO:0001819 synonymous_variant U57650 CCDS74672.1 2q37.1 2013-02-14 2002-08-29 ENSG00000168918 ENSG00000168918 3635.0 3635.0 """SH2 domain containing""" 6079.0 protein-coding gene gene with protein product 601582.0 """inositol polyphosphate-5-phosphatase, 145kD""" 8643691, 8874179 Standard NM_001017915 NM_001017915 Approved SHIP, hp51CN uc010zmp.2 Q92835 OTTHUMG00000133688 ENST00000359570.5:c.2424T>C 2.__UNKNOWN__:g.234102471T>C O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80 __UNKNOWN__ INPP5D-201 KNOWN basic|appris_principal protein_coding protein_coding + ENST00000359570.5 Silent SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN STAB2 55576 broad.mit.edu 37 12 104140440 104140440 + Missense_Mutation SNP G G C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr12:104140440G>C ENST00000388887.2 + 58.0 6406 c.6202G>C c.(6202-6204)Gag>Cag p.E2068Q RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 stabilin 2 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) 174.0 CAACACGTGTGAGTGTAACCT 0.502 0 343.0 273.0 297.0 12 104140440.0 2203.0 4300.0 6503.0 SO:0001583 missense AF160476 CCDS31888.1 12q23.3 2007-01-29 ENSG00000136011 55576.0 55576.0 18629.0 protein-coding gene gene with protein product """hyaluronic acid receptor for endocytosis""" 608561.0 11829752, 12077138 Standard XR_429107 Approved DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2 uc001tjw.3 Q8WWQ8 OTTHUMG00000170056 ENST00000388887.2:c.6202G>C 12.__UNKNOWN__:g.104140440G>C ENSP00000373539:p.Glu2068Gln __UNKNOWN__ CCDS31888.1 . . . . . . . . . . G 14.70 2.612768 0.46631 . . ENSG00000136011 ENST00000388887;ENST00000258495 T 0.35421 1.31 5.43 5.43 0.79202 Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1); 0.496401 0.20453 N 0.092056 T 0.29158 0.0725 L 0.35644 1.08 0.26123 N 0.980524 B 0.22746 0.074 B 0.19666 0.026 T 0.10683 -1.0619 10 0.21014 T 0.42 . 13.8289 0.63368 0.0:0.2781:0.7219:0.0 . 2068 Q8WWQ8 STAB2_HUMAN Q 2068;755 ENSP00000373539:E2068Q ENSP00000258495:E755Q E + 1 0 STAB2 102664570 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 4.556000 0.60775 2.545000 0.85829 0.462000 0.41574 GAG STAB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407089.1 + ENST00000388887.2 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN TNRC6A 27327 broad.mit.edu 37 16 24817584 24817584 + Missense_Mutation SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr16:24817584C>T ENST00000395799.3 + 16.0 4438 c.4309C>T c.(4309-4311)Cgg>Tgg p.R1437W CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1388W NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1437.0 cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015) cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) 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) 64.0 GBM - Glioblastoma multiforme(48;0.0394) TTCTGGGAACCGGCCGCAGCA 0.498 0 66.0 60.0 62.0 16 24817584.0 2197.0 4300.0 6497.0 SO:0001583 missense U80739 CCDS10624.2 16p11.2 2009-09-22 2004-12-17 2004-12-17 ENSG00000090905 ENSG00000090905 27327.0 27327.0 """Trinucleotide (CAG) repeat containing""" 11969.0 protein-coding gene gene with protein product 610739.0 """trinucleotide repeat containing 6""" TNRC6 9225980 Standard NM_020847 NM_014494 Approved CAGH26, KIAA1460, GW182 uc002dmm.3 Q8NDV7 OTTHUMG00000096999 ENST00000395799.3:c.4309C>T 16.__UNKNOWN__:g.24817584C>T ENSP00000379144:p.Arg1437Trp C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268 __UNKNOWN__ CCDS10624.2 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 36|36 5.613335|5.613335 0.96637|0.96637 .|. .|. ENSG00000090905|ENSG00000090905 ENST00000450465|ENST00000315183;ENST00000395799 .|T;T .|0.15487 .|2.46;2.42 6.16|6.16 6.16|6.16 0.99307|0.99307 .|. .|0.000000 .|0.85682 .|D .|0.000000 T|T 0.45074|0.45074 0.1324|0.1324 M|M 0.68593|0.68593 2.085|2.085 0.80722|0.80722 D|D 1|1 .|D;D;D;D .|0.89917 .|1.0;1.0;1.0;1.0 .|D;D;D;D .|0.91635 .|0.999;0.998;0.999;0.952 T|T 0.14476|0.14476 -1.0471|-1.0471 5|10 .|0.87932 .|D .|0 -15.6005|-15.6005 20.8598|20.8598 0.99761|0.99761 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|104;576;1388;1437 .|B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7 .|.;.;.;TNR6A_HUMAN L|W 327|1388;1437 .|ENSP00000326900:R1388W;ENSP00000379144:R1437W .|ENSP00000326900:R1388W P|R +|+ 2|1 0|2 TNRC6A|TNRC6A 24725085|24725085 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.991000|0.991000 0.79684|0.79684 5.116000|5.116000 0.64661|0.64661 2.937000|2.937000 0.99478|0.99478 0.650000|0.650000 0.86243|0.86243 CCG|CGG TNRC6A-001 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000214081.1 + ENST00000395799.3 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN ADAMTS8 11095 broad.mit.edu 37 11 130278724 130278724 + Missense_Mutation SNP T T C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr11:130278724T>C ENST00000257359.6 - 7.0 2568 c.1862A>G c.(1861-1863)gAc>gGc p.D621G NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 621.0 Cys-rich. negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435) proteinaceous extracellular matrix (GO:0005578) heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10.0 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) CTTGCAGCGGTCCCGGGGGGA 0.577 0 93.0 94.0 94.0 11 130278724.0 1887.0 4119.0 6006.0 SO:0001583 missense AF060153 CCDS41732.1 11q25 2008-07-18 2005-08-19 ENSG00000134917 ENSG00000134917 11095.0 11095.0 """ADAM metallopeptidases with thrombospondin type 1 motif""" 224.0 protein-coding gene gene with protein product 605175.0 """a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8""" 10438512 Standard NM_007037 NM_007037 Approved METH2, FLJ41712, ADAM-TS8 uc001qgg.4 Q9UP79 OTTHUMG00000165656 ENST00000257359.6:c.1862A>G 11.__UNKNOWN__:g.130278724T>C ENSP00000257359:p.Asp621Gly Q9NZS0 __UNKNOWN__ CCDS41732.1 . . . . . . . . . . T 28.8 4.952600 0.92660 . . ENSG00000134917 ENST00000531752;ENST00000257359;ENST00000414575 T 0.68025 -0.3 5.46 5.46 0.80206 . 0.000000 0.85682 D 0.000000 D 0.83529 0.5274 M 0.85041 2.73 0.58432 D 0.999999 D;D 0.89917 0.999;1.0 D;D 0.91635 0.986;0.999 D 0.86342 0.1705 10 0.72032 D 0.01 . 15.8307 0.78749 0.0:0.0:0.0:1.0 . 621;102 Q9UP79;B3KVX9 ATS8_HUMAN;. G 19;621;650 ENSP00000257359:D621G ENSP00000257359:D621G D - 2 0 ADAMTS8 129783934 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 7.622000 0.83099 2.202000 0.70862 0.533000 0.62120 GAC ADAMTS8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385636.1 - ENST00000257359.6 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN STAT3 6774 broad.mit.edu 37 17 40478180 40478180 + Missense_Mutation SNP G G A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr17:40478180G>A ENST00000264657.5 - 15.0 1631 c.1319C>T c.(1318-1320)aCc>aTc p.T440I STAT3_ENST00000389272.3_Missense_Mutation_p.T342I|STAT3_ENST00000585517.1_Missense_Mutation_p.T440I|STAT3_ENST00000404395.3_Missense_Mutation_p.T440I|STAT3_ENST00000588969.1_Missense_Mutation_p.T440I 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) 440.0 acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) 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) 35.0 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) GGTCTCAAAGGTGATCAGGTG 0.532 Hyperimmunoglobulin E Recurrent Infection Syndrome 0 123.0 106.0 112.0 17 40478180.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive BC014482 CCDS32656.1, CCDS32657.1, CCDS59288.1 17q21 2014-09-17 ENSG00000168610 ENSG00000168610 6774.0 6774.0 """SH2 domain containing""" 11364.0 protein-coding gene gene with protein product 102582.0 7512451 Standard NM_139276, NM_003150 NM_139276 Approved APRF uc002hzl.1 P40763 OTTHUMG00000150645 ENST00000264657.5:c.1319C>T 17.__UNKNOWN__:g.40478180G>A ENSP00000264657:p.Thr440Ile A8K7B8|K7ENL3|O14916|Q9BW54 __UNKNOWN__ CCDS32656.1 . . . . . . . . . . G 16.70 3.197203 0.58126 . . ENSG00000168610 ENST00000264657;ENST00000389272;ENST00000404395 D;D;D 0.87334 -2.24;-2.24;-2.24 5.8 5.8 0.92144 STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1); 0.137944 0.64402 D 0.000003 D 0.84808 0.5554 L 0.32530 0.975 0.58432 D 0.999999 B;B;B 0.22909 0.062;0.077;0.077 B;B;B 0.32805 0.094;0.153;0.153 T 0.79188 -0.1906 10 0.37606 T 0.19 -21.6568 20.0635 0.97698 0.0:0.0:1.0:0.0 . 440;440;440 P40763-2;P40763;B5BTZ6 .;STAT3_HUMAN;. I 440;342;440 ENSP00000264657:T440I;ENSP00000373923:T342I;ENSP00000384943:T440I ENSP00000264657:T440I T - 2 0 STAT3 37731706 1.000000 0.71417 1.000000 0.80357 0.844000 0.47949 5.572000 0.67411 2.745000 0.94114 0.494000 0.49563 ACC STAT3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000319353.3 - ENST00000264657.5 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN CITED2 10370 bcgsc.ca 37 6 139694595 139694595 + Missense_Mutation SNP C C A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr6:139694595C>A ENST00000367651.2 - 2.0 702 c.487G>T c.(487-489)Ggc>Tgc p.G163C CITED2_ENST00000537332.1_Missense_Mutation_p.G163C|CITED2_ENST00000536159.1_Missense_Mutation_p.G163C NM_006079.4 NP_006070.2 Q99967 CITE2_HUMAN Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 163.0 Gly-rich. adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412) cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714) large_intestine(1)|lung(4) 5.0 Breast(32;0.226) GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134) GTGCTGCTGCCGCCGCTGTGC 0.711 NSCLC(98;1219 1550 33720 43229 49330) 0 55.0 62.0 59.0 6 139694595.0 2203.0 4300.0 6503.0 SO:0001583 missense U65093 CCDS5195.1, CCDS75530.1 6q23.3 2008-08-29 ENSG00000164442 ENSG00000164442 10370.0 10370.0 1987.0 protein-coding gene gene with protein product 602937 8901575, 10552932 Standard NM_006079 Approved MRG1 uc021zfz.2 Q99967 OTTHUMG00000015691 ENST00000367651.2:c.487G>T 6.__UNKNOWN__:g.139694595C>A ENSP00000356623:p.Gly163Cys O95426|Q5VTF4 __UNKNOWN__ CCDS5195.1 . . . . . . . . . . C 11.83 1.754872 0.31046 . . ENSG00000164442 ENST00000367651;ENST00000536159;ENST00000537332 T;T;T 0.64618 -0.11;-0.11;-0.11 4.65 2.82 0.32997 . 0.418466 0.21735 N 0.069916 T 0.34832 0.0911 N 0.14661 0.345 0.26698 N 0.971228 P 0.48834 0.916 P 0.53146 0.719 T 0.21759 -1.0236 9 . . . -1.1517 8.9875 0.36003 0.1478:0.7726:0.0:0.0795 . 163 Q99967 CITE2_HUMAN C 163 ENSP00000356623:G163C;ENSP00000442831:G163C;ENSP00000444198:G163C . G - 1 0 CITED2 139736288 0.234000 0.23783 1.000000 0.80357 0.990000 0.78478 -0.231000 0.09069 0.644000 0.30656 -0.259000 0.10710 GGC CITED2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042463.1 - ENST00000367651.2 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN KRBA2 124751 bcgsc.ca 37 17 8273686 8273686 + Missense_Mutation SNP G G A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr17:8273686G>A ENST00000396267.1 - 0.0 830 KRBA2_ENST00000331336.2_Missense_Mutation_p.S82F|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355) intracellular (GO:0005622) nucleic acid binding (GO:0003676) endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1) 18.0 AGGCATCATGGAGAGCTGTAA 0.403 0 68.0 71.0 70.0 17 8273686.0 2185.0 4291.0 6476.0 SO:0001623 5_prime_UTR_variant BC024723 CCDS11141.1 17p13.1 2013-01-08 2006-08-15 ENSG00000184619 ENSG00000184619 124751.0 124751.0 """-""" 26989.0 protein-coding gene gene with protein product """KRAB A domain containing 2""" 12477932 Standard NM_213597 NM_213597 Approved uc002glf.1 Q6ZNG9 OTTHUMG00000132864 ENST00000396267.1:c.-2C>T 17.__UNKNOWN__:g.8273686G>A Q8IYY0 __UNKNOWN__ . . . . . . . . . . G 14.47 2.545077 0.45280 . . ENSG00000184619 ENST00000331336 T 0.32753 1.44 2.42 2.42 0.29668 Krueppel-associated box (2); . . . . T 0.43523 0.1251 L 0.42245 1.32 0.24503 N 0.994243 D 0.71674 0.998 D 0.80764 0.994 T 0.10941 -1.0608 9 0.66056 D 0.02 . 8.4961 0.33130 0.0:0.0:1.0:0.0 . 82 Q6ZNG9 KRBA2_HUMAN F 82 ENSP00000328017:S82F ENSP00000328017:S82F S - 2 0 KRBA2 8214411 0.080000 0.21391 0.666000 0.29783 0.142000 0.21351 0.965000 0.29319 1.692000 0.51112 0.555000 0.69702 TCC KRBA2-002 PUTATIVE basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000256339.1 - ENST00000396267.1 5'UTR SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN PCDHA13 56135 bcgsc.ca 37 5 140308851 140308851 + Missense_Mutation SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr5:140308851C>T ENST00000409494.1 + 1.0 2455 PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.P792S|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.P792S|PCDHA6_ENST00000527624.1_Intron NM_031865.1 NP_114071.1 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) 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) 95.0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTGAATTTGCCAATATCCTG 0.458 Melanoma(147;1739 1852 5500 27947 37288) 0 120.0 112.0 114.0 5 140308851.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AF152478 CCDS4240.1 5q31 2010-11-26 ENSG00000239389 ENSG00000239389 56136.0 56136.0 """Cadherins / Protocadherins : Clustered""" 8667.0 other complex locus constituent """KIAA0345-like 1"", ""ortholog of mouse CNR5""" 606319 CNRS5 10380929, 10662547 Standard NM_018904 NM_018904 Approved CNR5, CRNR5, CNRN5, PCDH-ALPHA13 Q9Y5I0 OTTHUMG00000129614 ENST00000409494.1:c.2394+44604C>T 5.__UNKNOWN__:g.140308851C>T O75277 __UNKNOWN__ . . . . . . . . . . C 13.05 2.121293 0.37436 . . ENSG00000248383 ENST00000409700;ENST00000253807 T;T 0.53857 0.6;0.7 5.75 5.75 0.90469 . . . . . T 0.47210 0.1433 N 0.22421 0.69 0.28921 N 0.892104 B;D 0.56521 0.011;0.976 B;P 0.54060 0.024;0.741 T 0.24657 -1.0154 9 0.06891 T 0.86 . 13.1794 0.59645 0.0:0.927:0.0:0.073 . 792;792 Q9H158;Q9H158-2 PCDC1_HUMAN;. S 792 ENSP00000386356:P792S;ENSP00000253807:P792S ENSP00000253807:P792S P + 1 0 PCDHAC1 140289035 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 2.800000 0.47900 2.716000 0.92895 0.563000 0.77884 CCA PCDHA13-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000251809.2 + ENST00000409494.1 Intron SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN C14orf182 283551 ucsc.edu 37 14 50459585 50459585 + Missense_Mutation SNP C C A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr14:50459585C>A ENST00000399206.1 - 2.0 1933 c.213G>T c.(211-213)aaG>aaT p.K71N C14orf182_ENST00000529902.1_5'UTR NM_001012706.1 NP_001012724.1 A1A4T8 CN182_HUMAN chromosome 14 open reading frame 182 0.0 large_intestine(2)|urinary_tract(1) 3.0 TGGCACAATTCTTTCTCCTGC 0.428 0 65.0 62.0 63.0 14 50459585.0 1850.0 4097.0 5947.0 SO:0001583 missense AK090420 CCDS41949.1 14q22.1 2009-02-24 ENSG00000214900 ENSG00000214900 283551.0 283551.0 27503.0 protein-coding gene gene with protein product Standard NM_001012706 NM_001012706 Approved uc001wxi.1 A1A4T8 ENST00000399206.1:c.213G>T 14.__UNKNOWN__:g.50459585C>A ENSP00000382157:p.Lys71Asn A8MYX4 __UNKNOWN__ CCDS41949.1 . . . . . . . . . . C 3.674 -0.066897 0.07273 . . ENSG00000214900 ENST00000399206 T 0.52983 0.64 4.72 1.84 0.25277 . . . . . T 0.33265 0.0857 . . . 0.26833 N 0.968549 P 0.45126 0.851 B 0.43301 0.415 T 0.11203 -1.0597 8 0.22109 T 0.4 . 4.6709 0.12689 0.1729:0.6365:0.0:0.1906 . 71 A1A4T8-2 . N 71 ENSP00000382157:K71N ENSP00000382157:K71N K - 3 2 C14orf182 49529335 0.064000 0.20934 0.802000 0.32245 0.200000 0.23975 -0.334000 0.07883 0.262000 0.21774 0.591000 0.81541 AAG C14orf182-001 PUTATIVE basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395717.1 - ENST00000399206.1 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN PGAP3 93210 ucsc.edu 37 17 37840913 37840913 + Silent SNP G G A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr17:37840913G>A ENST00000579146.1 - 3.0 411 c.369C>T c.(367-369)tgC>tgT p.C123C PGAP3_ENST00000378011.4_Intron|PGAP3_ENST00000300658.4_Silent_p.C123C|PGAP3_ENST00000429199.2_Silent_p.C123C Q96FM1 PGAP3_HUMAN post-GPI attachment to proteins 3 123.0 GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227) hydrolase activity, acting on ester bonds (GO:0016788) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12.0 TGCGGTAGCGGCAGAGCATCA 0.602 0 57.0 47.0 50.0 17 37840913.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB088396 CCDS32641.1 17q21.2 2009-06-02 2009-06-02 2009-06-02 ENSG00000161395 93210.0 93210.0 23719.0 protein-coding gene gene with protein product """post-GPI attachment to proteins 3""" 611801 """per1-like domain containing 1""" PERLD1 15010812, 17021251, 17314402 Standard NM_033419 NM_001291728 Approved MGC9753, CAB2, PP1498, PER1 uc002hsj.3 Q96FM1 ENST00000579146.1:c.369C>T 17.__UNKNOWN__:g.37840913G>A B4DGK7|Q86Z03|Q8NBJ8 __UNKNOWN__ PGAP3-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000444826.1 - ENST00000579146.1 Silent SNP PCPG-TCGA-P8-A5KC-Normal-SM-5EQFN EDAR 10913 broad.mit.edu 37 2 109545753 109545753 + Missense_Mutation SNP A A G TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr2:109545753A>G ENST00000258443.2 - 4.0 687 c.257T>C c.(256-258)aTa>aCa p.I86T EDAR_ENST00000376651.1_Missense_Mutation_p.I86T|EDAR_ENST00000409271.1_Missense_Mutation_p.I86T NM_022336.3 NP_071731.1 Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 86.0 apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662) apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16.0 ACGCCTGCATATCTGGTAGCC 0.607 0 88.0 79.0 82.0 2 109545753.0 2203.0 4300.0 6503.0 SO:0001583 missense AF130988 CCDS2081.1 2q13 2013-05-22 2004-08-09 ENSG00000135960 ENSG00000135960 10913.0 10913.0 """Tumor necrosis factor receptor superfamily""" 2895.0 protein-coding gene gene with protein product 604095.0 """ectodysplasin 1, anhidrotic receptor""" ED3, DL 10431241, 9375732 Standard NM_022336 Approved ED5, EDA3, Edar, ED1R, EDA1R uc002teq.4 Q9UNE0 OTTHUMG00000130982 ENST00000258443.2:c.257T>C 2.__UNKNOWN__:g.109545753A>G ENSP00000258443:p.Ile86Thr B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9 __UNKNOWN__ CCDS2081.1 . . . . . . . . . . A 18.92 3.724905 0.68959 . . ENSG00000135960 ENST00000409271;ENST00000258443;ENST00000376651 D;D;D 0.90324 -2.63;-2.65;-2.63 5.25 5.25 0.73442 . 0.150821 0.56097 D 0.000027 D 0.92397 0.7587 L 0.41415 1.275 0.80722 D 1 D;D 0.76494 0.999;0.993 D;D 0.78314 0.991;0.977 D 0.91001 0.4842 10 0.27785 T 0.31 -25.4706 15.1586 0.72764 1.0:0.0:0.0:0.0 . 86;86 E9PC98;Q9UNE0 .;EDAR_HUMAN T 86 ENSP00000386371:I86T;ENSP00000258443:I86T;ENSP00000365839:I86T ENSP00000258443:I86T I - 2 0 EDAR 108912185 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 8.850000 0.92190 1.980000 0.57719 0.379000 0.24179 ATA EDAR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253595.1 - ENST00000258443.2 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV ARNT 0 broad.mit.edu 37 1 150812108 150812108 + Missense_Mutation SNP G G A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr1:150812108G>A ENST00000354396.2 - 6.0 306 c.295C>T c.(295-297)Cgg>Tgg p.R99W ARNT_ENST00000505755.1_Missense_Mutation_p.R84W|ARNT_ENST00000515192.1_Missense_Mutation_p.R90W|ARNT_ENST00000358595.5_Missense_Mutation_p.R99W P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 99.0 Poly-Arg.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}. cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34.0 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) CGTCGCCGCCGTTCAATTTCA 0.493 T ETV6 AML Dom yes 1 1q21 405.0 aryl hydrocarbon receptor nuclear translocator L 0 117.0 107.0 110.0 1 150812108.0 2203.0 4300.0 6503.0 SO:0001583 missense AF001307 CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1 1q21 2013-05-21 ENSG00000143437 ENSG00000143437 405.0 """Basic helix-loop-helix proteins""" 700.0 protein-coding gene gene with protein product 126110.0 Standard NM_001668 Approved HIF-1beta, bHLHe2 uc001evr.2 P27540 OTTHUMG00000035011 ENST00000354396.2:c.295C>T 1.__UNKNOWN__:g.150812108G>A ENSP00000346372:p.Arg99Trp B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7 __UNKNOWN__ . . . . . . . . . . G 27.3 4.820176 0.90873 . . ENSG00000143437 ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755 D;D;D;D 0.99089 -5.41;-5.41;-5.41;-5.41 6.17 5.24 0.73138 Helix-loop-helix DNA-binding (5); 0.000000 0.85682 D 0.000000 D 0.99402 0.9789 M 0.91872 3.25 0.80722 D 1 D;D;D;D;D;D;D 0.89917 1.0;0.997;0.998;0.999;0.999;0.999;1.0 D;D;D;D;D;D;D 0.97110 0.976;0.923;0.944;0.982;0.982;0.954;1.0 D 0.98444 1.0588 10 0.87932 D 0 . 16.4222 0.83766 0.0:0.0:0.8585:0.1415 . 83;99;84;99;90;84;99 B4E3L5;A6NGV6;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540 .;.;.;.;.;.;ARNT_HUMAN W 99;99;99;90;83;84 ENSP00000351407:R99W;ENSP00000346372:R99W;ENSP00000423851:R90W;ENSP00000427571:R84W ENSP00000346372:R99W R - 1 2 ARNT 149078732 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 3.078000 0.50096 1.555000 0.49500 0.655000 0.94253 CGG ARNT-010 NOVEL basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000360630.1 - ENST00000354396.2 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV FN1 2335 broad.mit.edu 37 2 216273109 216273109 + Silent SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr2:216273109C>T ENST00000354785.4 - 16.0 2709 c.2340G>A c.(2338-2340)ctG>ctA p.L780L FN1_ENST00000443816.1_Silent_p.L780L|FN1_ENST00000432072.2_Silent_p.L780L|FN1_ENST00000357009.2_Silent_p.L780L|FN1_ENST00000323926.6_Silent_p.L780L|FN1_ENST00000446046.1_Silent_p.L780L|FN1_ENST00000346544.3_Silent_p.L780L|FN1_ENST00000421182.1_Silent_p.L780L|FN1_ENST00000345488.5_Silent_p.L780L|FN1_ENST00000357867.4_Silent_p.L780L|FN1_ENST00000356005.4_Silent_p.L780L|FN1_ENST00000336916.4_Silent_p.L780L|FN1_ENST00000359671.1_Silent_p.L780L P02751 FINC_HUMAN fibronectin 1 780.0 Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}. acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446) apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093) collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020) 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) 109.0 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) Ocriplasmin(DB08888) GGCCAGGAAGCAGGTCAGGGA 0.423 0 91.0 86.0 88.0 2 216273109.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1 2q34 2014-01-30 ENSG00000115414 ENSG00000115414 2335.0 2335.0 """Fibronectin type III domain containing"", ""Endogenous ligands""" 3778.0 protein-coding gene gene with protein product """migration-stimulating factor"", ""cold-insoluble globulin""" 135600.0 2992939, 3003095 Standard NM_212476 NM_054034 Approved MSF, CIG, LETS, GFND2, FINC uc002vfa.3 P02751 OTTHUMG00000133054 ENST00000354785.4:c.2340G>A 2.__UNKNOWN__:g.216273109C>T B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2 __UNKNOWN__ CCDS42814.1 FN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256667.2 - ENST00000354785.4 Silent SNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV JAM3 83700 broad.mit.edu 37 11 134014247 134014247 + Missense_Mutation SNP G G A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr11:134014247G>A ENST00000441717.3 + 4.0 269 JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000299106.4_Missense_Mutation_p.R123H|JAM3_ENST00000529443.2_Missense_Mutation_p.R168H NM_001205329.1 NP_001192258.1 Q9BX67 JAM3_HUMAN junctional adhesion molecule 3 adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226) cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923) integrin binding (GO:0005178) breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1) 10.0 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) CGAAATGACCGCAAGGAAATT 0.488 0 184.0 150.0 162.0 11 134014247.0 2201.0 4297.0 6498.0 SO:0001627 intron_variant AF356518 CCDS8494.1, CCDS55799.1, CCDS8494.2 11q25 2013-01-29 ENSG00000166086 ENSG00000166086 83700.0 83700.0 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 15532.0 protein-coding gene gene with protein product 606871.0 Standard NM_032801 NM_032801 Approved JAM-C, JAMC uc001qhb.3 Q9BX67 OTTHUMG00000167130 ENST00000441717.3:c.257-440G>A 11.__UNKNOWN__:g.134014247G>A B3KWG9|Q8WWL8|Q96FL1 __UNKNOWN__ CCDS55799.1 . . . . . . . . . . G 13.47 2.246259 0.39697 . . ENSG00000166086 ENST00000299106 T 0.12672 2.66 5.03 0.443 0.16587 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.575467 0.18973 N 0.126091 T 0.05686 0.0149 N 0.12471 0.22 0.27938 N 0.937632 B 0.12630 0.006 B 0.12156 0.007 T 0.24977 -1.0145 10 0.42905 T 0.14 . 1.7526 0.02975 0.2621:0.1914:0.4165:0.1301 . 123 Q9BX67 JAM3_HUMAN H 168 ENSP00000299106:R168H ENSP00000299106:R168H R + 2 0 JAM3 133519457 0.023000 0.18921 0.996000 0.52242 0.921000 0.55340 0.664000 0.25068 0.141000 0.18875 0.561000 0.74099 CGC JAM3-002 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000393304.3 + ENST00000441717.3 Intron SNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV MAGED1 9500 broad.mit.edu 37 X 51637809 51637809 + Silent SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chrX:51637809C>T ENST00000375722.1 + 3.0 297 MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000375695.2_Silent_p.C44C|MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000494718.1_Intron Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355) chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234) transcription coactivator activity (GO:0003713) p.C44C(1) breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32.0 Ovarian(276;0.236) CCACTCTGTGCGACCCCCCTT 0.602 Multiple Myeloma(10;0.10) 1 Substitution - coding silent(1) large_intestine(1) 72.0 62.0 66.0 X 51637809.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AF124440 CCDS14337.1, CCDS35279.1 Xp11.23 2008-08-01 ENSG00000179222 ENSG00000179222 9500.0 9500.0 6813.0 protein-coding gene gene with protein product 300224.0 10409427 Standard NM_001005332 NM_006986 Approved NRAGE, DLXIN-1 uc004dpn.3 Q9Y5V3 OTTHUMG00000021540 ENST00000375722.1:c.46-340C>T X.__UNKNOWN__:g.51637809C>T Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36 __UNKNOWN__ CCDS14337.1 MAGED1-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056593.1 + ENST00000375722.1 Intron SNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV HLX 3142 broad.mit.edu 37 1 221053618 221053618 + Missense_Mutation SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr1:221053618C>T ENST00000366903.6 + 1.0 1920 c.419C>T c.(418-420)cCt>cTt p.P140L NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 140.0 Pro-rich. cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32.0 GBM - Glioblastoma multiforme(131;0.00914) cagcCTCCGCCTCCGCCCCGG 0.711 0 14.0 21.0 18.0 1 221053618.0 2190.0 4273.0 6463.0 SO:0001583 missense BC033808 CCDS1527.1 1q41 2011-06-20 2007-07-26 2007-07-26 ENSG00000136630 ENSG00000136630 3142.0 3142.0 """Homeoboxes / ANTP class : NKL subclass""" 4978.0 protein-coding gene gene with protein product 142995.0 """H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1""" HLX1 1676597, 7806220 Standard NM_021958 NM_021958 Approved HB24 uc001hmv.4 Q14774 OTTHUMG00000037352 ENST00000366903.6:c.419C>T 1.__UNKNOWN__:g.221053618C>T ENSP00000355870:p.Pro140Leu B2R8A8|Q15988|Q59HE7|Q9NZ75 __UNKNOWN__ CCDS1527.1 . . . . . . . . . . C 12.80 2.045138 0.36085 . . ENSG00000136630 ENST00000366903 T 0.29655 1.56 4.77 3.86 0.44501 . 0.379571 0.22425 N 0.060234 T 0.14485 0.0350 N 0.08118 0 0.26623 N 0.972618 B 0.27823 0.19 B 0.24006 0.05 T 0.11542 -1.0583 10 0.51188 T 0.08 -2.9407 7.1913 0.25826 0.0:0.8039:0.0:0.1961 . 140 Q14774 HLX_HUMAN L 140 ENSP00000355870:P140L ENSP00000355870:P140L P + 2 0 HLX 219120241 0.364000 0.24997 0.019000 0.16419 0.053000 0.15095 4.624000 0.61254 1.239000 0.43787 0.655000 0.94253 CCT HLX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090902.3 + ENST00000366903.6 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV PTPN3 0 broad.mit.edu 37 9 112185069 112185070 + Missense_Mutation DNP CC CC TA TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr9:112185069_112185070CC>TA ENST00000374541.2 - 13.0 1168_1169 c.1064_1065GG>TA c.(1063-1065)cGG>cTA p.R355L PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000412145.1_Missense_Mutation_p.R224L|PTPN3_ENST00000262539.3_Intron NM_001145368.1|NM_002829.3 NP_001138840.1|NP_002820.3 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 355.0 negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649) cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856) ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080) 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) 41.0 ATAAGGATCTCCGCATGGCTGG 0.455 0 SO:0001583 missense CCDS6776.1, CCDS48000.1, CCDS48001.1 9q31 2011-06-09 ENSG00000070159 ENSG00000070159 5774.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor""" 9655.0 protein-coding gene gene with protein product 176877.0 1648725 Standard NM_002829 Approved PTPH1 uc004bed.2 P26045 OTTHUMG00000020475 ENST00000374541.2:c.1064_1065delinsTA 9.__UNKNOWN__:g.112185069_112185070delinsTA ENSP00000363667:p.Arg355Leu A0AUW9|E7EN99|E9PGU7 __UNKNOWN__ CCDS6776.1 PTPN3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053598.4 - ENST00000374541.2 Missense_Mutation DNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV NAA30 122830 broad.mit.edu 37 14 57858352 57858352 + Missense_Mutation SNP A A G TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr14:57858352A>G ENST00000554703.1 + 1.0 118 NAA30_ENST00000555166.1_Intron|NAA30_ENST00000556492.1_Missense_Mutation_p.D226G Q147X3 NAA30_HUMAN N(alpha)-acetyltransferase 30, NatC catalytic subunit metabolic process (GO:0008152) cytoplasm (GO:0005737)|NatC complex (GO:0031417) peptide alpha-N-acetyltransferase activity (GO:0004596) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 13.0 CAAATGCCCGATATCATGAGA 0.488 0 164.0 185.0 178.0 14 57858352.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AK092674 CCDS32088.1 14q22.2 2010-05-07 2010-01-14 2010-01-14 ENSG00000139977 122830.0 122830.0 2.3.1.88 """N(alpha)-acetyltransferase subunits""" 19844.0 protein-coding gene gene with protein product """chromosome 14 open reading frame 35"", ""N-acetyltransferase 12"", ""N-acetyltransferase 12 (GCN5-related, putative)""" C14orf35, NAT12 19660095 Standard NM_001011713 NM_001011713 Approved FLJ35355, MAK3, Mak3p uc001xcx.4 Q147X3 ENST00000554703.1:c.-4+929A>G 14.__UNKNOWN__:g.57858352A>G Q0IIN2 __UNKNOWN__ . . . . . . . . . . A 12.90 2.077055 0.36662 . . ENSG00000139977 ENST00000556492;ENST00000395257 T 0.68181 -0.31 4.47 4.47 0.54385 GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2); 0.146714 0.50627 D 0.000104 T 0.63046 0.2478 L 0.59436 1.845 0.80722 D 1 B 0.22909 0.077 B 0.24269 0.052 T 0.62388 -0.6865 10 0.40728 T 0.16 -10.9665 13.9309 0.63994 1.0:0.0:0.0:0.0 . 226 Q147X3 NAA30_HUMAN G 226;189 ENSP00000452521:D226G ENSP00000298406:D226G D + 2 0 NAA30 56928105 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 6.719000 0.74718 1.872000 0.54250 0.533000 0.62120 GAT NAA30-003 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000412926.1 + ENST00000554703.1 Intron SNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV OR8J3 81168 broad.mit.edu 37 11 55905035 55905035 + Missense_Mutation SNP G G C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr11:55905035G>C ENST00000301529.1 - 1.0 159 c.160C>G c.(160-162)Cga>Gga p.R54G NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 54.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59.0 Esophageal squamous(21;0.00693) TTTTGAAGTCGAGAGTCAACA 0.473 0 147.0 142.0 144.0 11 55905035.0 2201.0 4296.0 6497.0 SO:0001583 missense CCDS31520.1 11q12.2 2012-08-09 ENSG00000167822 ENSG00000167822 81168.0 81168.0 """GPCR / Class A : Olfactory receptors""" 15312.0 protein-coding gene gene with protein product Standard NM_001004064 NM_001004064 Approved uc010riz.2 Q8NGG0 OTTHUMG00000166834 ENST00000301529.1:c.160C>G 11.__UNKNOWN__:g.55905035G>C ENSP00000301529:p.Arg54Gly Q6IFB6|Q96RC2 __UNKNOWN__ CCDS31520.1 . . . . . . . . . . G 6.013 0.370736 0.11409 . . ENSG00000167822 ENST00000301529 T 0.01133 5.29 3.26 -2.42 0.06542 GPCR, rhodopsin-like superfamily (1); 0.400945 0.21579 N 0.072267 T 0.01454 0.0047 M 0.71581 2.175 0.09310 N 1 B 0.15719 0.014 B 0.21151 0.033 T 0.42481 -0.9449 10 0.66056 D 0.02 . 3.1093 0.06352 0.0914:0.1358:0.3078:0.4649 . 54 Q8NGG0 OR8J3_HUMAN G 54 ENSP00000301529:R54G ENSP00000301529:R54G R - 1 2 OR8J3 55661611 0.000000 0.05858 0.000000 0.03702 0.311000 0.27955 -0.264000 0.08658 -0.333000 0.08476 0.289000 0.19496 CGA OR8J3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000391542.1 - ENST00000301529.1 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV STK25 10494 broad.mit.edu 37 2 242439665 242439665 + Missense_Mutation SNP A A C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr2:242439665A>C ENST00000316586.4 - 5.0 699 c.350T>G c.(349-351)aTt>aGt p.I117S STK25_ENST00000543554.1_Missense_Mutation_p.I23S|STK25_ENST00000405585.1_Missense_Mutation_p.I40S|STK25_ENST00000401869.1_Missense_Mutation_p.I117S|STK25_ENST00000405883.3_Missense_Mutation_p.I40S|STK25_ENST00000535007.1_Missense_Mutation_p.I23S|STK25_ENST00000403346.3_Missense_Mutation_p.I117S NM_001271977.1|NM_001271978.1|NM_001282308.1 NP_001258906.1|NP_001258907.1|NP_001269237.1 O00506 STK25_HUMAN serine/threonine kinase 25 117.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 10.0 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) GATCGTGGCAATGTATGTCTC 0.587 NSCLC(99;1100 1566 7679 28647 48345) 0 114.0 108.0 110.0 2 242439665.0 2203.0 4300.0 6503.0 SO:0001583 missense D63780 CCDS2549.1, CCDS63199.1, CCDS63200.1 2q37.3 2010-06-25 2010-06-25 ENSG00000115694 ENSG00000115694 10494.0 10494.0 11404.0 protein-coding gene gene with protein product 602255.0 """serine/threonine kinase 25 (Ste20, yeast homolog)""" 8887545, 9160885, 15037601 Standard NM_006374 NM_001271977 Approved SOK1, YSK1 uc002wbp.4 O00506 OTTHUMG00000133408 ENST00000316586.4:c.350T>G 2.__UNKNOWN__:g.242439665A>C ENSP00000325748:p.Ile117Ser A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1 __UNKNOWN__ CCDS2549.1 . . . . . . . . . . A 27.5 4.835680 0.91117 . . ENSG00000115694 ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007;ENST00000450497;ENST00000424537;ENST00000442307;ENST00000413760;ENST00000429279;ENST00000436402;ENST00000440109;ENST00000435225 T;T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.68624 -0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34 4.97 4.97 0.65823 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.79505 0.4457 M 0.62154 1.92 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 1.0;1.0;1.0;1.0 T 0.82041 -0.0654 10 0.87932 D 0 . 14.9686 0.71213 1.0:0.0:0.0:0.0 . 117;43;40;117 B4DZ52;B4DVS7;A8K6Z3;O00506 .;.;.;STK25_HUMAN S 117;117;117;40;23;40;23;23;23;21;23;23;23;117;23;23 ENSP00000325748:I117S;ENSP00000384162:I117S;ENSP00000385687:I117S;ENSP00000384444:I40S;ENSP00000385541:I40S;ENSP00000444886:I23S;ENSP00000446008:I23S;ENSP00000399212:I23S;ENSP00000417020:I21S;ENSP00000403607:I23S;ENSP00000395104:I23S;ENSP00000404960:I23S;ENSP00000412617:I117S;ENSP00000403866:I23S;ENSP00000401114:I23S ENSP00000325748:I117S I - 2 0 STK25 242088338 1.000000 0.71417 0.998000 0.56505 0.970000 0.65996 9.092000 0.94157 1.990000 0.58119 0.533000 0.62120 ATT STK25-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257265.4 - ENST00000316586.4 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV SVOP 55530 broad.mit.edu 37 12 109332604 109332604 + Splice_Site SNP T T C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr12:109332604T>C ENST00000299134.5 - 7.0 699 c.700A>G c.(700-702)Agg>Ggg p.R234G NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0.0 cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021) ion transmembrane transporter activity (GO:0015075) breast(2)|lung(4) 6.0 GGCACTGACCTGTCTGGAGAT 0.542 0 340.0 346.0 344.0 12 109332604.0 2139.0 4243.0 6382.0 SO:0001630 splice_region_variant BC033587 CCDS73520.1 12q24.11 2011-07-12 ENSG00000166111 55530.0 55530.0 25417.0 protein-coding gene gene with protein product 611699.0 Standard NM_018711 NM_018711 Approved DKFZp761H039 uc010sxh.1 Q8N4V2 ENST00000299134.5:c.701+1A>G 12.__UNKNOWN__:g.109332604T>C Q9NPW5 __UNKNOWN__ . . . . . . . . . . T 16.29 3.082787 0.55861 . . ENSG00000166111 ENST00000299134 . . . 5.54 5.54 0.83059 . . . . . T 0.60792 0.2296 L 0.47716 1.5 . . . . . . . . . T 0.67333 -0.5697 4 . . . -20.671 13.6427 0.62260 0.0:0.0:0.0:1.0 . . . . G 234 . . R - 1 2 SVOP 107856733 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 7.181000 0.77682 2.103000 0.63969 0.533000 0.62120 AGG SVOP-001 KNOWN mRNA_start_NF|cds_start_NF|basic protein_coding protein_coding OTTHUMT00000403982.1 Missense_Mutation - ENST00000299134.5 Splice_Site SNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV CSMD2 114784 broad.mit.edu 37 1 34090179 34090179 + Silent SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr1:34090179C>T ENST00000373380.1 - 14.0 2404 c.2184G>A c.(2182-2184)ccG>ccA p.P728P CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.P1855P|CSMD2_ENST00000373377.1_5'UTR Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1815.0 Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}. integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) 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) 246.0 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGTTGAGGTACGGCTCTGGGA 0.662 0 125.0 102.0 110.0 1 34090179.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AY210418 CCDS380.1, CCDS60082.1 1p34.3 2014-01-28 ENSG00000121904 ENSG00000121904 114784.0 114784.0 19290.0 protein-coding gene gene with protein product 608398.0 11472063, 11572484 Standard NM_052896 NM_001281956 Approved KIAA1884 uc001bxn.1 Q7Z408 OTTHUMG00000011135 ENST00000373380.1:c.2184G>A 1.__UNKNOWN__:g.34090179C>T B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7 __UNKNOWN__ CSMD2-002 KNOWN basic protein_coding protein_coding OTTHUMT00000030635.4 - ENST00000373380.1 Silent SNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV MYO5A 4644 broad.mit.edu 37 15 52646099 52646099 + Missense_Mutation SNP T T G TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr15:52646099T>G ENST00000399231.3 - 26.0 3779 c.3536A>C c.(3535-3537)aAg>aCg p.K1179T MYO5A_ENST00000356338.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000399233.2_Missense_Mutation_p.K1179T|MYO5A_ENST00000553916.1_Missense_Mutation_p.K1179T|MYO5A_ENST00000358212.6_Missense_Mutation_p.K1179T NM_000259.3 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1179.0 actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601) actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137) breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57.0 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) CTGCTCCTCCTTGCGGTCCAG 0.562 0 110.0 117.0 114.0 15 52646099.0 2102.0 4221.0 6323.0 SO:0001583 missense CCDS42037.1, CCDS45262.1 15q21 2014-09-17 2006-09-29 ENSG00000197535 ENSG00000197535 4644.0 4644.0 """Myosins / Myosin superfamily : Class V""" 7602.0 protein-coding gene gene with protein product """myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V""" 160777.0 """myosin VA (heavy polypeptide 12, myoxin)""" MYH12 8188282, 8022818 Standard NM_000259 NM_000259 Approved MYO5, GS1, MYR12 uc002aby.2 Q9Y4I1 OTTHUMG00000137383 ENST00000399231.3:c.3536A>C 15.__UNKNOWN__:g.52646099T>G ENSP00000382177:p.Lys1179Thr A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31 __UNKNOWN__ CCDS42037.1 . . . . . . . . . . T 16.72 3.200721 0.58126 . . ENSG00000197535 ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916 T;T;T;T;T 0.20598 2.06;2.06;2.06;2.06;2.06 6.07 1.29 0.21616 . 0.142257 0.64402 D 0.000006 T 0.14960 0.0361 L 0.27053 0.805 0.48341 D 0.999636 P;P 0.46142 0.57;0.873 B;P 0.46076 0.104;0.503 T 0.08889 -1.0700 10 0.13470 T 0.59 . 9.66 0.39950 0.0:0.2493:0.0:0.7507 . 1179;1179 Q9Y4I1;Q9Y4I1-2 MYO5A_HUMAN;. T 1179;713;1179;1179;1179;809;1179 ENSP00000382177:K1179T;ENSP00000382179:K1179T;ENSP00000348693:K1179T;ENSP00000350945:K1179T;ENSP00000451109:K1179T ENSP00000348693:K1179T K - 2 0 MYO5A 50433391 1.000000 0.71417 0.995000 0.50966 0.998000 0.95712 3.062000 0.49971 -0.027000 0.13873 0.533000 0.62120 AAG MYO5A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000268102.1 - ENST00000399231.3 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV INPP5D 3635 broad.mit.edu 37 2 234102471 234102471 + Silent SNP T T C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr2:234102471T>C ENST00000359570.5 + 25.0 2424 c.2424T>C c.(2422-2424)atT>atC p.I808I INPP5D_ENST00000455936.2_Silent_p.I572I|INPP5D_ENST00000450745.1_Silent_p.I572I Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 820.0 apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852) cytosol (GO:0005829)|membrane (GO:0016020) inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594) central_nervous_system(1)|ovary(1) 2.0 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) AGGGCTGCATTGCCCTTCGGT 0.582 NSCLC(82;1215 1426 16163 20348 41018) 0 94.0 94.0 94.0 2 234102471.0 2029.0 4186.0 6215.0 SO:0001819 synonymous_variant U57650 CCDS74672.1 2q37.1 2013-02-14 2002-08-29 ENSG00000168918 ENSG00000168918 3635.0 3635.0 """SH2 domain containing""" 6079.0 protein-coding gene gene with protein product 601582.0 """inositol polyphosphate-5-phosphatase, 145kD""" 8643691, 8874179 Standard NM_001017915 NM_001017915 Approved SHIP, hp51CN uc010zmp.2 Q92835 OTTHUMG00000133688 ENST00000359570.5:c.2424T>C 2.__UNKNOWN__:g.234102471T>C O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80 __UNKNOWN__ INPP5D-201 KNOWN basic|appris_principal protein_coding protein_coding + ENST00000359570.5 Silent SNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV STAB2 55576 broad.mit.edu 37 12 104140440 104140440 + Missense_Mutation SNP G G C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr12:104140440G>C ENST00000388887.2 + 58.0 6406 c.6202G>C c.(6202-6204)Gag>Cag p.E2068Q RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 stabilin 2 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) 174.0 CAACACGTGTGAGTGTAACCT 0.502 0 343.0 273.0 297.0 12 104140440.0 2203.0 4300.0 6503.0 SO:0001583 missense AF160476 CCDS31888.1 12q23.3 2007-01-29 ENSG00000136011 55576.0 55576.0 18629.0 protein-coding gene gene with protein product """hyaluronic acid receptor for endocytosis""" 608561.0 11829752, 12077138 Standard XR_429107 Approved DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2 uc001tjw.3 Q8WWQ8 OTTHUMG00000170056 ENST00000388887.2:c.6202G>C 12.__UNKNOWN__:g.104140440G>C ENSP00000373539:p.Glu2068Gln __UNKNOWN__ CCDS31888.1 . . . . . . . . . . G 14.70 2.612768 0.46631 . . ENSG00000136011 ENST00000388887;ENST00000258495 T 0.35421 1.31 5.43 5.43 0.79202 Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1); 0.496401 0.20453 N 0.092056 T 0.29158 0.0725 L 0.35644 1.08 0.26123 N 0.980524 B 0.22746 0.074 B 0.19666 0.026 T 0.10683 -1.0619 10 0.21014 T 0.42 . 13.8289 0.63368 0.0:0.2781:0.7219:0.0 . 2068 Q8WWQ8 STAB2_HUMAN Q 2068;755 ENSP00000373539:E2068Q ENSP00000258495:E755Q E + 1 0 STAB2 102664570 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 4.556000 0.60775 2.545000 0.85829 0.462000 0.41574 GAG STAB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407089.1 + ENST00000388887.2 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV TNRC6A 27327 broad.mit.edu 37 16 24817584 24817584 + Missense_Mutation SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr16:24817584C>T ENST00000395799.3 + 16.0 4438 c.4309C>T c.(4309-4311)Cgg>Tgg p.R1437W CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1388W NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1437.0 cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015) cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) 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) 64.0 GBM - Glioblastoma multiforme(48;0.0394) TTCTGGGAACCGGCCGCAGCA 0.498 0 66.0 60.0 62.0 16 24817584.0 2197.0 4300.0 6497.0 SO:0001583 missense U80739 CCDS10624.2 16p11.2 2009-09-22 2004-12-17 2004-12-17 ENSG00000090905 ENSG00000090905 27327.0 27327.0 """Trinucleotide (CAG) repeat containing""" 11969.0 protein-coding gene gene with protein product 610739.0 """trinucleotide repeat containing 6""" TNRC6 9225980 Standard NM_020847 NM_014494 Approved CAGH26, KIAA1460, GW182 uc002dmm.3 Q8NDV7 OTTHUMG00000096999 ENST00000395799.3:c.4309C>T 16.__UNKNOWN__:g.24817584C>T ENSP00000379144:p.Arg1437Trp C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268 __UNKNOWN__ CCDS10624.2 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 36|36 5.613335|5.613335 0.96637|0.96637 .|. .|. ENSG00000090905|ENSG00000090905 ENST00000450465|ENST00000315183;ENST00000395799 .|T;T .|0.15487 .|2.46;2.42 6.16|6.16 6.16|6.16 0.99307|0.99307 .|. .|0.000000 .|0.85682 .|D .|0.000000 T|T 0.45074|0.45074 0.1324|0.1324 M|M 0.68593|0.68593 2.085|2.085 0.80722|0.80722 D|D 1|1 .|D;D;D;D .|0.89917 .|1.0;1.0;1.0;1.0 .|D;D;D;D .|0.91635 .|0.999;0.998;0.999;0.952 T|T 0.14476|0.14476 -1.0471|-1.0471 5|10 .|0.87932 .|D .|0 -15.6005|-15.6005 20.8598|20.8598 0.99761|0.99761 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|104;576;1388;1437 .|B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7 .|.;.;.;TNR6A_HUMAN L|W 327|1388;1437 .|ENSP00000326900:R1388W;ENSP00000379144:R1437W .|ENSP00000326900:R1388W P|R +|+ 2|1 0|2 TNRC6A|TNRC6A 24725085|24725085 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.991000|0.991000 0.79684|0.79684 5.116000|5.116000 0.64661|0.64661 2.937000|2.937000 0.99478|0.99478 0.650000|0.650000 0.86243|0.86243 CCG|CGG TNRC6A-001 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000214081.1 + ENST00000395799.3 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV ADAMTS8 11095 broad.mit.edu 37 11 130278724 130278724 + Missense_Mutation SNP T T C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr11:130278724T>C ENST00000257359.6 - 7.0 2568 c.1862A>G c.(1861-1863)gAc>gGc p.D621G NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 621.0 Cys-rich. negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435) proteinaceous extracellular matrix (GO:0005578) heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10.0 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) CTTGCAGCGGTCCCGGGGGGA 0.577 0 93.0 94.0 94.0 11 130278724.0 1887.0 4119.0 6006.0 SO:0001583 missense AF060153 CCDS41732.1 11q25 2008-07-18 2005-08-19 ENSG00000134917 ENSG00000134917 11095.0 11095.0 """ADAM metallopeptidases with thrombospondin type 1 motif""" 224.0 protein-coding gene gene with protein product 605175.0 """a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8""" 10438512 Standard NM_007037 NM_007037 Approved METH2, FLJ41712, ADAM-TS8 uc001qgg.4 Q9UP79 OTTHUMG00000165656 ENST00000257359.6:c.1862A>G 11.__UNKNOWN__:g.130278724T>C ENSP00000257359:p.Asp621Gly Q9NZS0 __UNKNOWN__ CCDS41732.1 . . . . . . . . . . T 28.8 4.952600 0.92660 . . ENSG00000134917 ENST00000531752;ENST00000257359;ENST00000414575 T 0.68025 -0.3 5.46 5.46 0.80206 . 0.000000 0.85682 D 0.000000 D 0.83529 0.5274 M 0.85041 2.73 0.58432 D 0.999999 D;D 0.89917 0.999;1.0 D;D 0.91635 0.986;0.999 D 0.86342 0.1705 10 0.72032 D 0.01 . 15.8307 0.78749 0.0:0.0:0.0:1.0 . 621;102 Q9UP79;B3KVX9 ATS8_HUMAN;. G 19;621;650 ENSP00000257359:D621G ENSP00000257359:D621G D - 2 0 ADAMTS8 129783934 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 7.622000 0.83099 2.202000 0.70862 0.533000 0.62120 GAC ADAMTS8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385636.1 - ENST00000257359.6 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV STAT3 6774 broad.mit.edu 37 17 40478180 40478180 + Missense_Mutation SNP G G A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr17:40478180G>A ENST00000264657.5 - 15.0 1631 c.1319C>T c.(1318-1320)aCc>aTc p.T440I STAT3_ENST00000389272.3_Missense_Mutation_p.T342I|STAT3_ENST00000585517.1_Missense_Mutation_p.T440I|STAT3_ENST00000404395.3_Missense_Mutation_p.T440I|STAT3_ENST00000588969.1_Missense_Mutation_p.T440I 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) 440.0 acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) 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) 35.0 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) GGTCTCAAAGGTGATCAGGTG 0.532 Hyperimmunoglobulin E Recurrent Infection Syndrome 0 123.0 106.0 112.0 17 40478180.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive BC014482 CCDS32656.1, CCDS32657.1, CCDS59288.1 17q21 2014-09-17 ENSG00000168610 ENSG00000168610 6774.0 6774.0 """SH2 domain containing""" 11364.0 protein-coding gene gene with protein product 102582.0 7512451 Standard NM_139276, NM_003150 NM_139276 Approved APRF uc002hzl.1 P40763 OTTHUMG00000150645 ENST00000264657.5:c.1319C>T 17.__UNKNOWN__:g.40478180G>A ENSP00000264657:p.Thr440Ile A8K7B8|K7ENL3|O14916|Q9BW54 __UNKNOWN__ CCDS32656.1 . . . . . . . . . . G 16.70 3.197203 0.58126 . . ENSG00000168610 ENST00000264657;ENST00000389272;ENST00000404395 D;D;D 0.87334 -2.24;-2.24;-2.24 5.8 5.8 0.92144 STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1); 0.137944 0.64402 D 0.000003 D 0.84808 0.5554 L 0.32530 0.975 0.58432 D 0.999999 B;B;B 0.22909 0.062;0.077;0.077 B;B;B 0.32805 0.094;0.153;0.153 T 0.79188 -0.1906 10 0.37606 T 0.19 -21.6568 20.0635 0.97698 0.0:0.0:1.0:0.0 . 440;440;440 P40763-2;P40763;B5BTZ6 .;STAT3_HUMAN;. I 440;342;440 ENSP00000264657:T440I;ENSP00000373923:T342I;ENSP00000384943:T440I ENSP00000264657:T440I T - 2 0 STAT3 37731706 1.000000 0.71417 1.000000 0.80357 0.844000 0.47949 5.572000 0.67411 2.745000 0.94114 0.494000 0.49563 ACC STAT3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000319353.3 - ENST00000264657.5 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV C14orf182 283551 ucsc.edu 37 14 50459585 50459585 + Missense_Mutation SNP C C A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr14:50459585C>A ENST00000399206.1 - 2.0 1933 c.213G>T c.(211-213)aaG>aaT p.K71N C14orf182_ENST00000529902.1_5'UTR NM_001012706.1 NP_001012724.1 A1A4T8 CN182_HUMAN chromosome 14 open reading frame 182 0.0 large_intestine(2)|urinary_tract(1) 3.0 TGGCACAATTCTTTCTCCTGC 0.428 0 65.0 62.0 63.0 14 50459585.0 1850.0 4097.0 5947.0 SO:0001583 missense AK090420 CCDS41949.1 14q22.1 2009-02-24 ENSG00000214900 ENSG00000214900 283551.0 283551.0 27503.0 protein-coding gene gene with protein product Standard NM_001012706 NM_001012706 Approved uc001wxi.1 A1A4T8 ENST00000399206.1:c.213G>T 14.__UNKNOWN__:g.50459585C>A ENSP00000382157:p.Lys71Asn A8MYX4 __UNKNOWN__ CCDS41949.1 . . . . . . . . . . C 3.674 -0.066897 0.07273 . . ENSG00000214900 ENST00000399206 T 0.52983 0.64 4.72 1.84 0.25277 . . . . . T 0.33265 0.0857 . . . 0.26833 N 0.968549 P 0.45126 0.851 B 0.43301 0.415 T 0.11203 -1.0597 8 0.22109 T 0.4 . 4.6709 0.12689 0.1729:0.6365:0.0:0.1906 . 71 A1A4T8-2 . N 71 ENSP00000382157:K71N ENSP00000382157:K71N K - 3 2 C14orf182 49529335 0.064000 0.20934 0.802000 0.32245 0.200000 0.23975 -0.334000 0.07883 0.262000 0.21774 0.591000 0.81541 AAG C14orf182-001 PUTATIVE basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395717.1 - ENST00000399206.1 Missense_Mutation SNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV PGAP3 93210 ucsc.edu 37 17 37840913 37840913 + Silent SNP G G A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr17:37840913G>A ENST00000579146.1 - 3.0 411 c.369C>T c.(367-369)tgC>tgT p.C123C PGAP3_ENST00000378011.4_Intron|PGAP3_ENST00000300658.4_Silent_p.C123C|PGAP3_ENST00000429199.2_Silent_p.C123C Q96FM1 PGAP3_HUMAN post-GPI attachment to proteins 3 123.0 GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227) hydrolase activity, acting on ester bonds (GO:0016788) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12.0 TGCGGTAGCGGCAGAGCATCA 0.602 0 57.0 47.0 50.0 17 37840913.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB088396 CCDS32641.1 17q21.2 2009-06-02 2009-06-02 2009-06-02 ENSG00000161395 93210.0 93210.0 23719.0 protein-coding gene gene with protein product """post-GPI attachment to proteins 3""" 611801 """per1-like domain containing 1""" PERLD1 15010812, 17021251, 17314402 Standard NM_033419 NM_001291728 Approved MGC9753, CAB2, PP1498, PER1 uc002hsj.3 Q96FM1 ENST00000579146.1:c.369C>T 17.__UNKNOWN__:g.37840913G>A B4DGK7|Q86Z03|Q8NBJ8 __UNKNOWN__ PGAP3-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000444826.1 - ENST00000579146.1 Silent SNP PCPG-TCGA-P8-A5KC-Normal-SM-5FILV NISCH 11188 broad.mit.edu 37 3 52521842 52521842 + Silent SNP G G T rs150301138 TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr3:52521842G>T ENST00000479054.1 + 17.0 2406 c.2334G>T c.(2332-2334)ctG>ctT p.L778L NISCH_ENST00000345716.4_Silent_p.L778L Q9Y2I1 NISCH_HUMAN nischarin 778.0 Interaction with ITGA5. {ECO:0000250}.|Interaction with LIMK. {ECO:0000250}.|Interaction with PAK1. {ECO:0000250}. actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228) cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886) G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091) NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33.0 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) Tizanidine(DB00697) TGCCGGAGCTGTGTCTGGTGC 0.597 0 100.0 85.0 90.0 3 52521842.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF082516 CCDS33767.1, CCDS63651.1, CCDS63652.1 3p21.1 2008-07-18 ENSG00000010322 ENSG00000010322 11188.0 11188.0 18006.0 protein-coding gene gene with protein product """imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected""" 615507.0 11912194, 10882231 Standard NM_007184 NM_007184 Approved KIAA0975, I-1, IRAS uc003ded.4 Q9Y2I1 OTTHUMG00000158571 ENST00000479054.1:c.2334G>T 3.__UNKNOWN__:g.52521842G>T C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3 __UNKNOWN__ CCDS33767.1 NISCH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351357.1 + ENST00000479054.1 Silent SNP PCPG-TCGA-P8-A5KD-Normal-SM-5EQFG KIAA1210 57481 broad.mit.edu 37 X 118227646 118227646 + Silent SNP C C T TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chrX:118227646C>T ENST00000402510.2 - 10.0 1466 c.1467G>A c.(1465-1467)ctG>ctA p.L489L NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 489.0 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64.0 TGTCCATTCCCAGCTTCTTTT 0.433 0 149.0 119.0 129.0 X 118227646.0 1949.0 4125.0 6074.0 SO:0001819 synonymous_variant AB033036 CCDS48156.1 Xq24 2012-10-04 ENSG00000250423 ENSG00000250423 57481.0 57481.0 29218.0 protein-coding gene gene with protein product 10574462 Standard NM_020721 NM_020721 Approved uc004era.4 Q9ULL0 OTTHUMG00000162980 ENST00000402510.2:c.1467G>A X.__UNKNOWN__:g.118227646C>T B7ZCI8|Q5JPN4 __UNKNOWN__ CCDS48156.1 KIAA1210-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000371251.2 - ENST00000402510.2 Silent SNP PCPG-TCGA-P8-A5KD-Normal-SM-5EQFG MEFV 4210 broad.mit.edu 37 16 3293588 3293588 + Silent SNP C C T TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr16:3293588C>T ENST00000339854.4 - 10.0 1398 c.1359G>A c.(1357-1359)ccG>ccA p.P453P MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000219596.1_Silent_p.P633P O15553 MEFV_HUMAN Mediterranean fever 633.0 Required for homotrimerization and induction of pyroptosomes. inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056) cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634) actin binding (GO:0003779)|zinc ion binding (GO:0008270) NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50.0 CAAATCTTTGCGGGCCATCAG 0.517 0 158.0 170.0 166.0 16 3293588.0 2197.0 4300.0 6497.0 SO:0001819 synonymous_variant AF018080 CCDS10498.1, CCDS55981.1 16p13.3 2014-09-17 ENSG00000103313 ENSG00000103313 4210.0 4210.0 """Tripartite motif containing / Tripartite motif containing""" 6998.0 protein-coding gene gene with protein product """pyrin""" 608107.0 MEF 9288094 Standard NM_000243 NM_000243 Approved FMF, TRIM20 uc002cun.1 O15553 OTTHUMG00000129324 ENST00000339854.4:c.1359G>A 16.__UNKNOWN__:g.3293588C>T D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5 __UNKNOWN__ MEFV-010 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000398510.1 - ENST00000339854.4 Silent SNP PCPG-TCGA-P8-A5KD-Normal-SM-5EQFG ACOT12 134526 broad.mit.edu 37 5 80643655 80643655 + Silent SNP G G A rs149420016 TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr5:80643655G>A ENST00000307624.3 - 6.0 619 c.591C>T c.(589-591)caC>caT p.H197H NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 197.0 Acyl coenzyme A hydrolase 2. acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090) cytosol (GO:0005829) acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23.0 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) ATGTATTTCCGTGATGGTTTG 0.488 0 270.0 259.0 263.0 5 80643655.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB078619 CCDS4055.1 5q14.1 2011-09-13 ENSG00000172497 ENSG00000172497 134526.0 134526.0 """Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing""" 24436.0 protein-coding gene gene with protein product """StAR-related lipid transfer (START) domain containing 15""" 614315.0 16103133, 16940157 Standard NM_130767 NM_130767 Approved Cach, THEAL, STARD15 uc003khl.4 Q8WYK0 OTTHUMG00000131305 ENST00000307624.3:c.591C>T 5.__UNKNOWN__:g.80643655G>A B3KVK9|Q5FWE9 __UNKNOWN__ CCDS4055.1 ACOT12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254074.1 - ENST00000307624.3 Silent SNP PCPG-TCGA-P8-A5KD-Normal-SM-5EQFG DNAH17 8632 broad.mit.edu 37 17 76457712 76457712 + Nonsense_Mutation SNP G G A TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr17:76457712G>A ENST00000585328.1 - 58.0 9362 c.9238C>T c.(9238-9240)Cag>Tag p.Q3080* DNAH17_ENST00000389840.5_Nonsense_Mutation_p.Q3071*|DNAH17_ENST00000586052.1_5'UTR NM_173628.3 NP_775899.3 Q9UFH2 DYH17_HUMAN dynein, axonemal, heavy chain 17 3071.0 Stalk. {ECO:0000250}. cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) 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) 116.0 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCGACCACCTGGATCAGTTGG 0.527 0 92.0 66.0 75.0 17 76457712.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AJ000522 17q25.3 2012-04-19 2006-09-04 ENSG00000187775 ENSG00000187775 8632.0 8632.0 """Axonemal dyneins""" 2946.0 protein-coding gene gene with protein product 610063.0 """dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1""" DNAHL1 9545504 Standard NM_173628 NM_173628 Approved DNEL2, FLJ40457 uc010dhp.2 Q9UFH2 ENST00000585328.1:c.9238C>T 17.__UNKNOWN__:g.76457712G>A ENSP00000465516:p.Gln3080* O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7 __UNKNOWN__ . . . . . . . . . . G 50 16.702698 0.99870 . . ENSG00000187775 ENST00000300671;ENST00000389840 . . . 4.14 4.14 0.48551 . 0.507362 0.16779 N 0.199871 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.07030 T 0.85 . 9.8615 0.41118 0.0975:0.0:0.9025:0.0 . . . . X 3080;3071 . ENSP00000300671:Q3080X Q - 1 0 DNAH17 73969307 1.000000 0.71417 1.000000 0.80357 0.551000 0.35334 3.516000 0.53436 1.846000 0.53633 0.563000 0.77884 CAG DNAH17-001 PUTATIVE not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000318962.2 - ENST00000585328.1 Nonsense_Mutation SNP PCPG-TCGA-P8-A5KD-Normal-SM-5EQFG HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr11:533874T>C ENST00000451590.1 - 3.0 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R NM_001130442.1|NM_005343.2 NP_001123914.1|NP_005334.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61.0 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022) p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901.0 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6.0 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) yes Dom yes Costello syndrome 11 11p15.5 3265.0 v-Ha-ras Harvey rat sarcoma viral oncogene homolog """E, L, M""" 256 Substitution - Missense(256) skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1) 117.0 102.0 107.0 11 533874.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Facio-Cutaneous-Skeletal syndrome AJ437024 CCDS7698.1, CCDS7699.1 11p15.5 2014-09-17 2013-07-08 ENSG00000174775 ENSG00000174775 3265.0 3265.0 5173.0 protein-coding gene gene with protein product 190020.0 """v-Ha-ras Harvey rat sarcoma viral oncogene homolog""" HRAS1 Standard NM_176795 NM_176795 Approved uc010qvx.2 P01112 OTTHUMG00000131919 ENST00000451590.1:c.182A>G 11.__UNKNOWN__:g.533874T>C ENSP00000407586:p.Gln61Arg B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2 __UNKNOWN__ CCDS7698.1 . . . . . . . . . . T 14.48 2.546606 0.45383 . . ENSG00000174775 ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189 D;D;D;D;D 0.83673 -1.75;-1.75;-1.75;-1.75;-1.75 3.64 3.64 0.41730 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85613 0.5737 M 0.90870 3.155 0.80722 D 1 B;B 0.21071 0.051;0.008 B;B 0.22152 0.022;0.038 D 0.85970 0.1476 10 0.66056 D 0.02 . 11.8872 0.52608 0.0:0.0:0.0:1.0 . 61;61 P01112-2;P01112 .;RASH_HUMAN R 61 ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R ENSP00000309845:Q61R Q - 2 0 HRAS 523874 1.000000 0.71417 0.985000 0.45067 0.482000 0.33219 7.727000 0.84838 1.662000 0.50781 0.459000 0.35465 CAG HRAS-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259403.2 - ENST00000451590.1 Missense_Mutation SNP PCPG-TCGA-P8-A5KD-Normal-SM-5EQFG SSFA2 6744 broad.mit.edu 37 2 182784164 182784164 + Silent SNP C C T TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr2:182784164C>T ENST00000409136.1 + 6.0 1774 c.1662C>T c.(1660-1662)tcC>tcT p.S554S SSFA2_ENST00000409001.1_Silent_p.S1045S|SSFA2_ENST00000428267.2_Silent_p.S892S|SSFA2_ENST00000320370.7_Silent_p.S1045S|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000431877.2_Silent_p.S1045S P28290 SSFA2_HUMAN sperm specific antigen 2 1045.0 cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38.0 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TCCGCTCCTCCGCACTCATGG 0.527 C 8.0 0.0037 0.0041 2184.0 0.01 0.9969 , , 0.0035 0.004 0.0042 0.7134 EXOME 0.0011 SNP 0 101.0 103.0 103.0 2 182784164.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant M61199 CCDS2284.1, CCDS46467.1, CCDS74611.1 2q32.1 2012-02-01 ENSG00000138434 ENSG00000138434 6744.0 6744.0 11319.0 protein-coding gene gene with protein product """cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13""" 118990.0 1555770 Standard NM_006751 XM_005246812 Approved CS-1, SPAG13, KRAP, KIAA1927 uc002uoh.3 P28290 OTTHUMG00000132584 ENST00000409136.1:c.1662C>T 2.__UNKNOWN__:g.182784164C>T A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1 __UNKNOWN__ SSFA2-009 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000334804.1 + ENST00000409136.1 Silent SNP PCPG-TCGA-P8-A5KD-Normal-SM-5EQFG SLC11A1 6556 broad.mit.edu 37 2 219247721 219247721 + Missense_Mutation SNP G G T TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr2:219247721G>T ENST00000233202.6 + 2.0 386 c.46G>T c.(46-48)Ggt>Tgt p.G16C SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_5'UTR NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 16.0 Pro/Ser-rich. activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060) cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821) manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915) 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) 19.0 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) GTCCAGCTATGGTTCCATCTc 0.597 0 84.0 68.0 73.0 2 219247721.0 2203.0 4300.0 6503.0 SO:0001583 missense D38171 CCDS2415.1 2q35 2013-07-18 2013-07-18 ENSG00000018280 ENSG00000018280 6556.0 6556.0 """Solute carriers""" 10907.0 protein-coding gene gene with protein product """natural resistance-associated macrophage protein 1""" 600266.0 LSH, NRAMP, NRAMP1 7964458, 7980580 Standard NM_000578 NM_000578 Approved uc002vhv.3 P49279 OTTHUMG00000086747 ENST00000233202.6:c.46G>T 2.__UNKNOWN__:g.219247721G>T ENSP00000233202:p.Gly16Cys C0H5Y3 __UNKNOWN__ CCDS2415.1 . . . . . . . . . . G 16.68 3.189491 0.57909 . . ENSG00000018280 ENST00000233202 T 0.18810 2.19 4.75 4.75 0.60458 . 0.169277 0.40302 N 0.001127 T 0.45617 0.1351 M 0.75264 2.295 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 T 0.42582 -0.9443 10 0.62326 D 0.03 -25.615 13.1213 0.59327 0.0:0.0:1.0:0.0 . 16;16;16 Q9HBK0;B4DQ73;P49279 .;.;NRAM1_HUMAN C 16 ENSP00000233202:G16C ENSP00000233202:G16C G + 1 0 SLC11A1 218955965 1.000000 0.71417 1.000000 0.80357 0.471000 0.32888 4.823000 0.62694 2.485000 0.83878 0.313000 0.20887 GGT SLC11A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000195076.2 + ENST00000233202.6 Missense_Mutation SNP PCPG-TCGA-P8-A5KD-Normal-SM-5EQFG ALDH1L1 10840 broad.mit.edu 37 3 125874318 125874318 + Missense_Mutation SNP C C G TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr3:125874318C>G ENST00000273450.3 - 5.0 804 c.587G>C c.(586-588)gGc>gCc p.G196A ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G186A|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.G11A|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.G186A|ALDH1L1_ENST00000393434.2_Missense_Mutation_p.G186A NM_001270364.1 NP_001257293.1 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 186.0 GART. 10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52.0 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GGGGGCTTTGCCCTCAGCGAT 0.622 0 90.0 77.0 81.0 3 125874318.0 2203.0 4300.0 6503.0 SO:0001583 missense AF052732 CCDS3034.1, CCDS58850.1, CCDS58851.1 3q21.2 2010-07-19 2005-01-27 ENSG00000144908 ENSG00000144908 10840.0 10840.0 1.5.1.6 """Aldehyde dehydrogenases""" 3978.0 protein-coding gene gene with protein product """cytosolic 10-formyltetrahydrofolate dehydrogenase""" 600249.0 """formyltetrahydrofolate dehydrogenase""" FTHFD Standard NM_012190 NM_012190 Approved 10-fTHF uc031sbp.1 O75891 OTTHUMG00000125551 ENST00000273450.3:c.587G>C 3.__UNKNOWN__:g.125874318C>G ENSP00000273450:p.Gly196Ala B4DG36|E9PBX3|Q68CS1 __UNKNOWN__ CCDS58851.1 . . . . . . . . . . C 23.0 4.360517 0.82353 . . ENSG00000144908 ENST00000273450;ENST00000472186;ENST00000393434;ENST00000393431;ENST00000455064 T;T;T;T;T 0.80738 -1.41;-1.41;-1.41;-1.41;0.22 4.66 4.66 0.58398 Formyl transferase, N-terminal (2); 0.123056 0.53938 D 0.000049 D 0.91088 0.7195 M 0.90425 3.115 0.80722 D 1 D;D;D;D 0.89917 1.0;0.999;1.0;0.999 D;D;D;D 0.91635 0.999;0.987;0.999;0.982 D 0.92860 0.6305 10 0.87932 D 0 . 15.072 0.72046 0.0:1.0:0.0:0.0 . 11;238;91;186 B4DGC8;Q59G10;Q9UFA9;O75891 .;.;.;AL1L1_HUMAN A 196;186;186;186;11 ENSP00000273450:G196A;ENSP00000420293:G186A;ENSP00000377083:G186A;ENSP00000377081:G186A;ENSP00000414126:G11A ENSP00000273450:G196A G - 2 0 ALDH1L1 127357008 1.000000 0.71417 0.656000 0.29637 0.796000 0.44982 7.399000 0.79935 2.408000 0.81797 0.467000 0.42956 GGC ALDH1L1-001 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000246897.1 - ENST00000273450.3 Missense_Mutation SNP PCPG-TCGA-P8-A5KD-Normal-SM-5EQFG TBC1D2 55357 broad.mit.edu 37 9 100961724 100961724 + Missense_Mutation SNP G G C TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr9:100961724G>C ENST00000375064.1 - 0.0 2760 TBC1D2_ENST00000375066.5_Missense_Mutation_p.S898C|TBC1D2_ENST00000342112.5_Missense_Mutation_p.S691C|TBC1D2_ENST00000375063.1_Missense_Mutation_p.S449C NM_001267571.1 NP_001254500.1 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 positive regulation of Rab GTPase activity (GO:0032851) cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410) cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24.0 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) TCTGCGCCGGGATGCCCGCCT 0.677 0 74.0 77.0 76.0 9 100961724.0 2203.0 4299.0 6502.0 SO:0001624 3_prime_UTR_variant AY026527 CCDS35080.1, CCDS59137.1, CCDS75865.1 9q22.32 2011-11-30 ENSG00000095383 ENSG00000095383 55357.0 55357.0 18026.0 protein-coding gene gene with protein product """prostate antigen recognized and identified by SEREX""" 609871.0 Standard NM_018421 NM_018421 Approved PARIS1, TBC1D2A, Armus uc011lvb.2 Q9BYX2 OTTHUMG00000020343 ENST00000375064.1:c.*139C>G 9.__UNKNOWN__:g.100961724G>C B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4 __UNKNOWN__ . . . . . . . . . . G 14.07 2.425402 0.43020 . . ENSG00000095383 ENST00000375066;ENST00000342112;ENST00000375063 T;T;T 0.09163 3.01;3.43;3.02 5.51 -0.997 0.10215 . 0.932048 0.09209 N 0.833567 T 0.08802 0.0218 L 0.47716 1.5 0.09310 N 1 B;B 0.10296 0.002;0.003 B;B 0.09377 0.002;0.004 T 0.40021 -0.9585 10 0.59425 D 0.04 . 2.6561 0.05013 0.1566:0.417:0.2278:0.1986 . 909;898 Q9BYX2;Q9BYX2-2 TBD2A_HUMAN;. C 898;691;449 ENSP00000364207:S898C;ENSP00000341567:S691C;ENSP00000364203:S449C ENSP00000341567:S691C S - 2 0 TBC1D2 100001545 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -0.106000 0.10890 0.246000 0.21394 0.511000 0.50034 TCC TBC1D2-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000053366.1 - ENST00000375064.1 3'UTR SNP PCPG-TCGA-P8-A5KD-Normal-SM-5EQFG PRG4 10216 broad.mit.edu 37 1 186274011 186274012 + Frame_Shift_Ins INS - - AA TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr1:186274011_186274012insAA ENST00000445192.2 + 6.0 600_601 c.555_556insAA c.(556-558)aaafs p.K186fs PRG4_ENST00000367486.3_Intron|PRG4_ENST00000367483.4_Frame_Shift_Ins_p.K145fs|PRG4_ENST00000367484.3_Frame_Shift_Ins_p.K145fs|PRG4_ENST00000367485.4_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 186.0 Ser-rich. cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127) extracellular space (GO:0005615) polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044) 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) 102.0 TCAAGTCTTCCAAAAATTCAGC 0.337 0 SO:0001589 frameshift_variant U70136 CCDS1369.1, CCDS44287.1, CCDS44288.1 1q25-q31 2008-07-18 2004-11-15 ENSG00000116690 ENSG00000116690 10216.0 10216.0 9364.0 protein-coding gene gene with protein product """lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )""" 604283.0 """proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)""" CACP 10545950, 9920774 Standard NM_005807 NM_005807 Approved JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635 uc001gru.4 Q92954 OTTHUMG00000035574 ENST00000445192.2:c.558_559dupAA 1.__UNKNOWN__:g.186274014_186274015dupAA ENSP00000399679:p.Lys186fs Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49 __UNKNOWN__ CCDS1369.1 PRG4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000086346.1 + ENST00000445192.2 Frame_Shift_Ins INS PCPG-TCGA-P8-A5KD-Normal-SM-5EQFG PAX8 7849 ucsc.edu 37 2 114035967 114035967 + Missense_Mutation SNP G G T TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr2:114035967G>T ENST00000429538.3 - 2.0 199 c.5C>A c.(4-6)cCt>cAt p.P2H PAX8_ENST00000263335.7_Missense_Mutation_p.P2H|PAX8_ENST00000348715.5_Missense_Mutation_p.P2H|PAX8_ENST00000397647.3_Missense_Mutation_p.P2H|PAX8_ENST00000263334.5_Missense_Mutation_p.P2H NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 2.0 anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655) nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212) PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20.0 GGAGTTGTGAGGCATCGCCGG 0.701 T PPARG follicular thyroid Thyroid dysgenesis Ovarian(188;7 2067 9084 29802 29892) Dom yes 2 2q12-q14 7849.0 paired box gene 8 yes E 0 29.0 36.0 34.0 2 114035967.0 1941.0 4120.0 6061.0 SO:0001583 missense X69699 CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1 2q13 2011-06-20 2007-07-12 ENSG00000125618 ENSG00000125618 7849.0 7849.0 """Paired boxes"", ""Homeoboxes / PRD class""" 8622.0 protein-coding gene gene with protein product 167415 """paired box gene 8""" 8431641, 7981748 Standard NM_003466 Approved uc010yxt.2 Q06710 OTTHUMG00000128529 ENST00000429538.3:c.5C>A 2.__UNKNOWN__:g.114035967G>T ENSP00000395498:p.Pro2His Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49 __UNKNOWN__ CCDS46398.1 . . . . . . . . . . G 24.2 4.506246 0.85282 . . ENSG00000125618 ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334 D;D;D;D;D 0.98234 -4.81;-4.76;-4.71;-4.17;-4.71 5.55 5.55 0.83447 . . . . . D 0.98422 0.9475 L 0.55834 1.745 0.40918 D 0.98428 D;D;D;D;D 0.89917 1.0;1.0;0.999;0.996;1.0 D;D;D;D;D 0.81914 0.995;0.995;0.988;0.922;0.995 D 0.99854 1.1075 9 0.87932 D 0 . 14.9976 0.71446 0.0:0.0:1.0:0.0 . 2;2;2;2;2 Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4 .;.;PAX8_HUMAN;.;. H 2 ENSP00000263335:P2H;ENSP00000380768:P2H;ENSP00000314750:P2H;ENSP00000395498:P2H;ENSP00000263334:P2H ENSP00000263334:P2H P - 2 0 PAX8 113752437 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 3.345000 0.52182 2.606000 0.88127 0.655000 0.94253 CCT PAX8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250353.5 - ENST00000429538.3 Missense_Mutation SNP PCPG-TCGA-P8-A5KD-Normal-SM-5EQFG SNX7 51375 ucsc.edu 37 1 99225684 99225684 + Silent SNP T T C TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr1:99225684T>C ENST00000306121.3 + 9.0 1362 c.1353T>C c.(1351-1353)ccT>ccC p.P451P SNX7_ENST00000529992.1_Silent_p.P396P|SNX7_ENST00000370189.5_Silent_p.P336P NM_015976.4 NP_057060.2 Q9UNH6 SNX7_HUMAN sorting nexin 7 387.0 apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886) cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020) phosphatidylinositol binding (GO:0035091) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13.0 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) AAGATAAACCTTAATCCCATT 0.413 0 129.0 110.0 117.0 1 99225684.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF121857 CCDS755.2, CCDS756.1, CCDS756.2 1p21 2008-05-22 ENSG00000162627 ENSG00000162627 51375.0 51375.0 """Sorting nexins""" 14971.0 protein-coding gene gene with protein product 614904 Standard NM_015976 Approved uc010ouc.2 Q9UNH6 OTTHUMG00000010723 ENST00000306121.3:c.1353T>C 1.__UNKNOWN__:g.99225684T>C A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7 __UNKNOWN__ CCDS755.2 SNX7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000029609.2 + ENST00000306121.3 Silent SNP PCPG-TCGA-P8-A5KD-Normal-SM-5EQFG NISCH 11188 broad.mit.edu 37 3 52521842 52521842 + Silent SNP G G T rs150301138 TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr3:52521842G>T ENST00000479054.1 + 17.0 2406 c.2334G>T c.(2332-2334)ctG>ctT p.L778L NISCH_ENST00000345716.4_Silent_p.L778L Q9Y2I1 NISCH_HUMAN nischarin 778.0 Interaction with ITGA5. {ECO:0000250}.|Interaction with LIMK. {ECO:0000250}.|Interaction with PAK1. {ECO:0000250}. actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228) cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886) G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091) NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33.0 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) Tizanidine(DB00697) TGCCGGAGCTGTGTCTGGTGC 0.597 0 100.0 85.0 90.0 3 52521842.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF082516 CCDS33767.1, CCDS63651.1, CCDS63652.1 3p21.1 2008-07-18 ENSG00000010322 ENSG00000010322 11188.0 11188.0 18006.0 protein-coding gene gene with protein product """imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected""" 615507.0 11912194, 10882231 Standard NM_007184 NM_007184 Approved KIAA0975, I-1, IRAS uc003ded.4 Q9Y2I1 OTTHUMG00000158571 ENST00000479054.1:c.2334G>T 3.__UNKNOWN__:g.52521842G>T C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3 __UNKNOWN__ CCDS33767.1 NISCH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351357.1 + ENST00000479054.1 Silent SNP PCPG-TCGA-P8-A5KD-Normal-SM-5FIMK MEFV 4210 broad.mit.edu 37 16 3293588 3293588 + Silent SNP C C T TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr16:3293588C>T ENST00000339854.4 - 10.0 1398 c.1359G>A c.(1357-1359)ccG>ccA p.P453P MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000219596.1_Silent_p.P633P O15553 MEFV_HUMAN Mediterranean fever 633.0 Required for homotrimerization and induction of pyroptosomes. inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056) cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634) actin binding (GO:0003779)|zinc ion binding (GO:0008270) NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50.0 CAAATCTTTGCGGGCCATCAG 0.517 0 158.0 170.0 166.0 16 3293588.0 2197.0 4300.0 6497.0 SO:0001819 synonymous_variant AF018080 CCDS10498.1, CCDS55981.1 16p13.3 2014-09-17 ENSG00000103313 ENSG00000103313 4210.0 4210.0 """Tripartite motif containing / Tripartite motif containing""" 6998.0 protein-coding gene gene with protein product """pyrin""" 608107.0 MEF 9288094 Standard NM_000243 NM_000243 Approved FMF, TRIM20 uc002cun.1 O15553 OTTHUMG00000129324 ENST00000339854.4:c.1359G>A 16.__UNKNOWN__:g.3293588C>T D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5 __UNKNOWN__ MEFV-010 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000398510.1 - ENST00000339854.4 Silent SNP PCPG-TCGA-P8-A5KD-Normal-SM-5FIMK ACOT12 134526 broad.mit.edu 37 5 80643655 80643655 + Silent SNP G G A rs149420016 TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr5:80643655G>A ENST00000307624.3 - 6.0 619 c.591C>T c.(589-591)caC>caT p.H197H NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 197.0 Acyl coenzyme A hydrolase 2. acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090) cytosol (GO:0005829) acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23.0 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) ATGTATTTCCGTGATGGTTTG 0.488 0 270.0 259.0 263.0 5 80643655.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB078619 CCDS4055.1 5q14.1 2011-09-13 ENSG00000172497 ENSG00000172497 134526.0 134526.0 """Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing""" 24436.0 protein-coding gene gene with protein product """StAR-related lipid transfer (START) domain containing 15""" 614315.0 16103133, 16940157 Standard NM_130767 NM_130767 Approved Cach, THEAL, STARD15 uc003khl.4 Q8WYK0 OTTHUMG00000131305 ENST00000307624.3:c.591C>T 5.__UNKNOWN__:g.80643655G>A B3KVK9|Q5FWE9 __UNKNOWN__ CCDS4055.1 ACOT12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254074.1 - ENST00000307624.3 Silent SNP PCPG-TCGA-P8-A5KD-Normal-SM-5FIMK DNAH17 8632 broad.mit.edu 37 17 76457712 76457712 + Nonsense_Mutation SNP G G A TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr17:76457712G>A ENST00000585328.1 - 58.0 9362 c.9238C>T c.(9238-9240)Cag>Tag p.Q3080* DNAH17_ENST00000389840.5_Nonsense_Mutation_p.Q3071*|DNAH17_ENST00000586052.1_5'UTR NM_173628.3 NP_775899.3 Q9UFH2 DYH17_HUMAN dynein, axonemal, heavy chain 17 3071.0 Stalk. {ECO:0000250}. cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) 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) 116.0 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCGACCACCTGGATCAGTTGG 0.527 0 92.0 66.0 75.0 17 76457712.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AJ000522 17q25.3 2012-04-19 2006-09-04 ENSG00000187775 ENSG00000187775 8632.0 8632.0 """Axonemal dyneins""" 2946.0 protein-coding gene gene with protein product 610063.0 """dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1""" DNAHL1 9545504 Standard NM_173628 NM_173628 Approved DNEL2, FLJ40457 uc010dhp.2 Q9UFH2 ENST00000585328.1:c.9238C>T 17.__UNKNOWN__:g.76457712G>A ENSP00000465516:p.Gln3080* O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7 __UNKNOWN__ . . . . . . . . . . G 50 16.702698 0.99870 . . ENSG00000187775 ENST00000300671;ENST00000389840 . . . 4.14 4.14 0.48551 . 0.507362 0.16779 N 0.199871 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.07030 T 0.85 . 9.8615 0.41118 0.0975:0.0:0.9025:0.0 . . . . X 3080;3071 . ENSP00000300671:Q3080X Q - 1 0 DNAH17 73969307 1.000000 0.71417 1.000000 0.80357 0.551000 0.35334 3.516000 0.53436 1.846000 0.53633 0.563000 0.77884 CAG DNAH17-001 PUTATIVE not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000318962.2 - ENST00000585328.1 Nonsense_Mutation SNP PCPG-TCGA-P8-A5KD-Normal-SM-5FIMK HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr11:533874T>C ENST00000451590.1 - 3.0 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R NM_001130442.1|NM_005343.2 NP_001123914.1|NP_005334.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61.0 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022) p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901.0 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6.0 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) yes Dom yes Costello syndrome 11 11p15.5 3265.0 v-Ha-ras Harvey rat sarcoma viral oncogene homolog """E, L, M""" 256 Substitution - Missense(256) skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1) 117.0 102.0 107.0 11 533874.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Facio-Cutaneous-Skeletal syndrome AJ437024 CCDS7698.1, CCDS7699.1 11p15.5 2014-09-17 2013-07-08 ENSG00000174775 ENSG00000174775 3265.0 3265.0 5173.0 protein-coding gene gene with protein product 190020.0 """v-Ha-ras Harvey rat sarcoma viral oncogene homolog""" HRAS1 Standard NM_176795 NM_176795 Approved uc010qvx.2 P01112 OTTHUMG00000131919 ENST00000451590.1:c.182A>G 11.__UNKNOWN__:g.533874T>C ENSP00000407586:p.Gln61Arg B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2 __UNKNOWN__ CCDS7698.1 . . . . . . . . . . T 14.48 2.546606 0.45383 . . ENSG00000174775 ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189 D;D;D;D;D 0.83673 -1.75;-1.75;-1.75;-1.75;-1.75 3.64 3.64 0.41730 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85613 0.5737 M 0.90870 3.155 0.80722 D 1 B;B 0.21071 0.051;0.008 B;B 0.22152 0.022;0.038 D 0.85970 0.1476 10 0.66056 D 0.02 . 11.8872 0.52608 0.0:0.0:0.0:1.0 . 61;61 P01112-2;P01112 .;RASH_HUMAN R 61 ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R ENSP00000309845:Q61R Q - 2 0 HRAS 523874 1.000000 0.71417 0.985000 0.45067 0.482000 0.33219 7.727000 0.84838 1.662000 0.50781 0.459000 0.35465 CAG HRAS-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259403.2 - ENST00000451590.1 Missense_Mutation SNP PCPG-TCGA-P8-A5KD-Normal-SM-5FIMK SSFA2 6744 broad.mit.edu 37 2 182784164 182784164 + Silent SNP C C T TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr2:182784164C>T ENST00000409136.1 + 6.0 1774 c.1662C>T c.(1660-1662)tcC>tcT p.S554S SSFA2_ENST00000409001.1_Silent_p.S1045S|SSFA2_ENST00000428267.2_Silent_p.S892S|SSFA2_ENST00000320370.7_Silent_p.S1045S|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000431877.2_Silent_p.S1045S P28290 SSFA2_HUMAN sperm specific antigen 2 1045.0 cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38.0 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TCCGCTCCTCCGCACTCATGG 0.527 C 8.0 0.0037 0.0041 2184.0 0.01 0.9969 , , 0.0035 0.004 0.0042 0.7134 EXOME 0.0011 SNP 0 101.0 103.0 103.0 2 182784164.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant M61199 CCDS2284.1, CCDS46467.1, CCDS74611.1 2q32.1 2012-02-01 ENSG00000138434 ENSG00000138434 6744.0 6744.0 11319.0 protein-coding gene gene with protein product """cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13""" 118990.0 1555770 Standard NM_006751 XM_005246812 Approved CS-1, SPAG13, KRAP, KIAA1927 uc002uoh.3 P28290 OTTHUMG00000132584 ENST00000409136.1:c.1662C>T 2.__UNKNOWN__:g.182784164C>T A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1 __UNKNOWN__ SSFA2-009 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000334804.1 + ENST00000409136.1 Silent SNP PCPG-TCGA-P8-A5KD-Normal-SM-5FIMK SLC11A1 6556 broad.mit.edu 37 2 219247721 219247721 + Missense_Mutation SNP G G T TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr2:219247721G>T ENST00000233202.6 + 2.0 386 c.46G>T c.(46-48)Ggt>Tgt p.G16C SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_5'UTR NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 16.0 Pro/Ser-rich. activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060) cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821) manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915) 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) 19.0 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) GTCCAGCTATGGTTCCATCTc 0.597 0 84.0 68.0 73.0 2 219247721.0 2203.0 4300.0 6503.0 SO:0001583 missense D38171 CCDS2415.1 2q35 2013-07-18 2013-07-18 ENSG00000018280 ENSG00000018280 6556.0 6556.0 """Solute carriers""" 10907.0 protein-coding gene gene with protein product """natural resistance-associated macrophage protein 1""" 600266.0 LSH, NRAMP, NRAMP1 7964458, 7980580 Standard NM_000578 NM_000578 Approved uc002vhv.3 P49279 OTTHUMG00000086747 ENST00000233202.6:c.46G>T 2.__UNKNOWN__:g.219247721G>T ENSP00000233202:p.Gly16Cys C0H5Y3 __UNKNOWN__ CCDS2415.1 . . . . . . . . . . G 16.68 3.189491 0.57909 . . ENSG00000018280 ENST00000233202 T 0.18810 2.19 4.75 4.75 0.60458 . 0.169277 0.40302 N 0.001127 T 0.45617 0.1351 M 0.75264 2.295 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 T 0.42582 -0.9443 10 0.62326 D 0.03 -25.615 13.1213 0.59327 0.0:0.0:1.0:0.0 . 16;16;16 Q9HBK0;B4DQ73;P49279 .;.;NRAM1_HUMAN C 16 ENSP00000233202:G16C ENSP00000233202:G16C G + 1 0 SLC11A1 218955965 1.000000 0.71417 1.000000 0.80357 0.471000 0.32888 4.823000 0.62694 2.485000 0.83878 0.313000 0.20887 GGT SLC11A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000195076.2 + ENST00000233202.6 Missense_Mutation SNP PCPG-TCGA-P8-A5KD-Normal-SM-5FIMK TBC1D2 55357 broad.mit.edu 37 9 100961724 100961724 + Missense_Mutation SNP G G C TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr9:100961724G>C ENST00000375064.1 - 0.0 2760 TBC1D2_ENST00000375066.5_Missense_Mutation_p.S898C|TBC1D2_ENST00000342112.5_Missense_Mutation_p.S691C|TBC1D2_ENST00000375063.1_Missense_Mutation_p.S449C NM_001267571.1 NP_001254500.1 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 positive regulation of Rab GTPase activity (GO:0032851) cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410) cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24.0 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) TCTGCGCCGGGATGCCCGCCT 0.677 0 74.0 77.0 76.0 9 100961724.0 2203.0 4299.0 6502.0 SO:0001624 3_prime_UTR_variant AY026527 CCDS35080.1, CCDS59137.1, CCDS75865.1 9q22.32 2011-11-30 ENSG00000095383 ENSG00000095383 55357.0 55357.0 18026.0 protein-coding gene gene with protein product """prostate antigen recognized and identified by SEREX""" 609871.0 Standard NM_018421 NM_018421 Approved PARIS1, TBC1D2A, Armus uc011lvb.2 Q9BYX2 OTTHUMG00000020343 ENST00000375064.1:c.*139C>G 9.__UNKNOWN__:g.100961724G>C B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4 __UNKNOWN__ . . . . . . . . . . G 14.07 2.425402 0.43020 . . ENSG00000095383 ENST00000375066;ENST00000342112;ENST00000375063 T;T;T 0.09163 3.01;3.43;3.02 5.51 -0.997 0.10215 . 0.932048 0.09209 N 0.833567 T 0.08802 0.0218 L 0.47716 1.5 0.09310 N 1 B;B 0.10296 0.002;0.003 B;B 0.09377 0.002;0.004 T 0.40021 -0.9585 10 0.59425 D 0.04 . 2.6561 0.05013 0.1566:0.417:0.2278:0.1986 . 909;898 Q9BYX2;Q9BYX2-2 TBD2A_HUMAN;. C 898;691;449 ENSP00000364207:S898C;ENSP00000341567:S691C;ENSP00000364203:S449C ENSP00000341567:S691C S - 2 0 TBC1D2 100001545 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -0.106000 0.10890 0.246000 0.21394 0.511000 0.50034 TCC TBC1D2-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000053366.1 - ENST00000375064.1 3'UTR SNP PCPG-TCGA-P8-A5KD-Normal-SM-5FIMK PRG4 10216 broad.mit.edu 37 1 186274011 186274012 + Frame_Shift_Ins INS - - AA TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr1:186274011_186274012insAA ENST00000445192.2 + 6.0 600_601 c.555_556insAA c.(556-558)aaafs p.K186fs PRG4_ENST00000367486.3_Intron|PRG4_ENST00000367483.4_Frame_Shift_Ins_p.K145fs|PRG4_ENST00000367484.3_Frame_Shift_Ins_p.K145fs|PRG4_ENST00000367485.4_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 186.0 Ser-rich. cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127) extracellular space (GO:0005615) polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044) 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) 102.0 TCAAGTCTTCCAAAAATTCAGC 0.337 0 SO:0001589 frameshift_variant U70136 CCDS1369.1, CCDS44287.1, CCDS44288.1 1q25-q31 2008-07-18 2004-11-15 ENSG00000116690 ENSG00000116690 10216.0 10216.0 9364.0 protein-coding gene gene with protein product """lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )""" 604283.0 """proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)""" CACP 10545950, 9920774 Standard NM_005807 NM_005807 Approved JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635 uc001gru.4 Q92954 OTTHUMG00000035574 ENST00000445192.2:c.558_559dupAA 1.__UNKNOWN__:g.186274014_186274015dupAA ENSP00000399679:p.Lys186fs Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49 __UNKNOWN__ CCDS1369.1 PRG4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000086346.1 + ENST00000445192.2 Frame_Shift_Ins INS PCPG-TCGA-P8-A5KD-Normal-SM-5FIMK ALDH1L1 10840 ucsc.edu 37 3 125874318 125874318 + Missense_Mutation SNP C C G TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 C C Unknown Untested Somatic WXS none Illumina HiSeq d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr3:125874318C>G ENST00000273450.3 - 5.0 804 c.587G>C c.(586-588)gGc>gCc p.G196A ALDH1L1_ENST00000393434.2_Missense_Mutation_p.G186A|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.G11A|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G186A|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.G186A NM_001270364.1 NP_001257293.1 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 186.0 GART. 10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52.0 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GGGGGCTTTGCCCTCAGCGAT 0.622 0 90.0 77.0 81.0 3 125874318.0 2203.0 4300.0 6503.0 SO:0001583 missense AF052732 CCDS3034.1, CCDS58850.1, CCDS58851.1 3q21.2 2010-07-19 2005-01-27 ENSG00000144908 ENSG00000144908 10840.0 10840.0 1.5.1.6 """Aldehyde dehydrogenases""" 3978.0 protein-coding gene gene with protein product """cytosolic 10-formyltetrahydrofolate dehydrogenase""" 600249 """formyltetrahydrofolate dehydrogenase""" FTHFD Standard NM_012190 NM_012190 Approved 10-fTHF uc031sbp.1 O75891 OTTHUMG00000125551 ENST00000273450.3:c.587G>C 3.__UNKNOWN__:g.125874318C>G ENSP00000273450:p.Gly196Ala B4DG36|E9PBX3|Q68CS1 __UNKNOWN__ CCDS58851.1 . . . . . . . . . . C 23.0 4.360517 0.82353 . . ENSG00000144908 ENST00000273450;ENST00000472186;ENST00000393434;ENST00000393431;ENST00000455064 T;T;T;T;T 0.80738 -1.41;-1.41;-1.41;-1.41;0.22 4.66 4.66 0.58398 Formyl transferase, N-terminal (2); 0.123056 0.53938 D 0.000049 D 0.91088 0.7195 M 0.90425 3.115 0.80722 D 1 D;D;D;D 0.89917 1.0;0.999;1.0;0.999 D;D;D;D 0.91635 0.999;0.987;0.999;0.982 D 0.92860 0.6305 10 0.87932 D 0 . 15.072 0.72046 0.0:1.0:0.0:0.0 . 11;238;91;186 B4DGC8;Q59G10;Q9UFA9;O75891 .;.;.;AL1L1_HUMAN A 196;186;186;186;11 ENSP00000273450:G196A;ENSP00000420293:G186A;ENSP00000377083:G186A;ENSP00000377081:G186A;ENSP00000414126:G11A ENSP00000273450:G196A G - 2 0 ALDH1L1 127357008 1.000000 0.71417 0.656000 0.29637 0.796000 0.44982 7.399000 0.79935 2.408000 0.81797 0.467000 0.42956 GGC ALDH1L1-001 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000246897.1 - ENST00000273450.3 Missense_Mutation SNP PCPG-TCGA-P8-A5KD-Normal-SM-5FIMK KIAA1210 57481 ucsc.edu 37 X 118227646 118227646 + Silent SNP C C T TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 C C Unknown Untested Somatic WXS none Illumina HiSeq d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chrX:118227646C>T ENST00000402510.2 - 10.0 1466 c.1467G>A c.(1465-1467)ctG>ctA p.L489L NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 489.0 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64.0 TGTCCATTCCCAGCTTCTTTT 0.433 0 149.0 119.0 129.0 X 118227646.0 1949.0 4125.0 6074.0 SO:0001819 synonymous_variant AB033036 CCDS48156.1 Xq24 2012-10-04 ENSG00000250423 ENSG00000250423 57481.0 57481.0 29218.0 protein-coding gene gene with protein product 10574462 Standard NM_020721 NM_020721 Approved uc004era.4 Q9ULL0 OTTHUMG00000162980 ENST00000402510.2:c.1467G>A X.__UNKNOWN__:g.118227646C>T B7ZCI8|Q5JPN4 __UNKNOWN__ CCDS48156.1 KIAA1210-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000371251.2 - ENST00000402510.2 Silent SNP PCPG-TCGA-P8-A5KD-Normal-SM-5FIMK PAX8 7849 ucsc.edu 37 2 114035967 114035967 + Missense_Mutation SNP G G T TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 G G Unknown Untested Somatic WXS none Illumina HiSeq d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr2:114035967G>T ENST00000429538.3 - 2.0 199 c.5C>A c.(4-6)cCt>cAt p.P2H PAX8_ENST00000263335.7_Missense_Mutation_p.P2H|PAX8_ENST00000348715.5_Missense_Mutation_p.P2H|PAX8_ENST00000397647.3_Missense_Mutation_p.P2H|PAX8_ENST00000263334.5_Missense_Mutation_p.P2H NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 2.0 anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655) nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212) PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20.0 GGAGTTGTGAGGCATCGCCGG 0.701 T PPARG follicular thyroid Thyroid dysgenesis Ovarian(188;7 2067 9084 29802 29892) Dom yes 2 2q12-q14 7849.0 paired box gene 8 yes E 0 29.0 36.0 34.0 2 114035967.0 1941.0 4120.0 6061.0 SO:0001583 missense X69699 CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1 2q13 2011-06-20 2007-07-12 ENSG00000125618 ENSG00000125618 7849.0 7849.0 """Paired boxes"", ""Homeoboxes / PRD class""" 8622.0 protein-coding gene gene with protein product 167415 """paired box gene 8""" 8431641, 7981748 Standard NM_003466 Approved uc010yxt.2 Q06710 OTTHUMG00000128529 ENST00000429538.3:c.5C>A 2.__UNKNOWN__:g.114035967G>T ENSP00000395498:p.Pro2His Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49 __UNKNOWN__ CCDS46398.1 . . . . . . . . . . G 24.2 4.506246 0.85282 . . ENSG00000125618 ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334 D;D;D;D;D 0.98234 -4.81;-4.76;-4.71;-4.17;-4.71 5.55 5.55 0.83447 . . . . . D 0.98422 0.9475 L 0.55834 1.745 0.40918 D 0.98428 D;D;D;D;D 0.89917 1.0;1.0;0.999;0.996;1.0 D;D;D;D;D 0.81914 0.995;0.995;0.988;0.922;0.995 D 0.99854 1.1075 9 0.87932 D 0 . 14.9976 0.71446 0.0:0.0:1.0:0.0 . 2;2;2;2;2 Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4 .;.;PAX8_HUMAN;.;. H 2 ENSP00000263335:P2H;ENSP00000380768:P2H;ENSP00000314750:P2H;ENSP00000395498:P2H;ENSP00000263334:P2H ENSP00000263334:P2H P - 2 0 PAX8 113752437 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 3.345000 0.52182 2.606000 0.88127 0.655000 0.94253 CCT PAX8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250353.5 - ENST00000429538.3 Missense_Mutation SNP PCPG-TCGA-P8-A5KD-Normal-SM-5FIMK SNX7 51375 ucsc.edu 37 1 99225684 99225684 + Silent SNP T T C TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 T T Unknown Untested Somatic WXS none Illumina HiSeq d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr1:99225684T>C ENST00000306121.3 + 9.0 1362 c.1353T>C c.(1351-1353)ccT>ccC p.P451P SNX7_ENST00000529992.1_Silent_p.P396P|SNX7_ENST00000370189.5_Silent_p.P336P NM_015976.4 NP_057060.2 Q9UNH6 SNX7_HUMAN sorting nexin 7 387.0 apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886) cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020) phosphatidylinositol binding (GO:0035091) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13.0 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) AAGATAAACCTTAATCCCATT 0.413 0 129.0 110.0 117.0 1 99225684.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF121857 CCDS755.2, CCDS756.1, CCDS756.2 1p21 2008-05-22 ENSG00000162627 ENSG00000162627 51375.0 51375.0 """Sorting nexins""" 14971.0 protein-coding gene gene with protein product 614904 Standard NM_015976 Approved uc010ouc.2 Q9UNH6 OTTHUMG00000010723 ENST00000306121.3:c.1353T>C 1.__UNKNOWN__:g.99225684T>C A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7 __UNKNOWN__ CCDS755.2 SNX7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000029609.2 + ENST00000306121.3 Silent SNP PCPG-TCGA-P8-A5KD-Normal-SM-5FIMK USP15 9958 broad.mit.edu 37 12 62785104 62785104 + Nonsense_Mutation SNP C C T rs149953550 TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr12:62785104C>T ENST00000280377.5 + 16.0 2186 c.2128C>T c.(2128-2130)Cga>Tga p.R710* USP15_ENST00000393654.3_Nonsense_Mutation_p.R685*|USP15_ENST00000353364.3_Nonsense_Mutation_p.R681* NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 710.0 USP. BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37.0 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) ACACAAAAAACGATTGTTTAC 0.373 Melanoma(181;615 2041 39364 49691 50001) 0 116.0 114.0 114.0 12 62785104.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AB011101 CCDS8963.1, CCDS58250.1, CCDS58251.1 12q14 2006-07-18 2005-08-08 9958.0 9958.0 """Ubiquitin-specific peptidases""" 12613.0 protein-coding gene gene with protein product 604731.0 """ubiquitin specific protease 15""" 12838346 Standard NM_006313 NM_001252078 Approved KIAA0529, UNPH4 uc001src.2 Q9Y4E8 OTTHUMG00000170186 ENST00000280377.5:c.2128C>T 12.__UNKNOWN__:g.62785104C>T ENSP00000280377:p.Arg710* Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5 __UNKNOWN__ CCDS58251.1 . . . . . . . . . . C 37 6.410931 0.97546 . . ENSG00000135655 ENST00000353364;ENST00000280377;ENST00000393654 . . . 5.59 1.31 0.21738 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . . . . -7.5548 15.1974 0.73104 0.5042:0.4957:0.0:0.0 . . . . X 681;710;685 . . R + 1 2 USP15 61071371 0.933000 0.31639 0.986000 0.45419 0.995000 0.86356 1.745000 0.38278 0.241000 0.21283 0.563000 0.77884 CGA USP15-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000407831.2 + ENST00000280377.5 Nonsense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR CUL1 8454 broad.mit.edu 37 7 148427298 148427298 + Missense_Mutation SNP C C G TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr7:148427298C>G ENST00000325222.4 + 2.0 363 c.84C>G c.(82-84)atC>atG p.I28M CUL1_ENST00000409469.1_Missense_Mutation_p.I28M|CUL1_ENST00000602748.1_Missense_Mutation_p.I28M NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 28.0 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032) cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40.0 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GAGCCGGCATCCAGCAGGTGT 0.547 0 103.0 90.0 94.0 7 148427298.0 2203.0 4300.0 6503.0 SO:0001583 missense U58087 CCDS34772.1 7q36.1 2011-05-24 ENSG00000055130 ENSG00000055130 8454.0 8454.0 2551.0 protein-coding gene gene with protein product 603134.0 8681378 Standard NM_003592 NM_003592 Approved uc003wey.3 Q13616 OTTHUMG00000152776 ENST00000325222.4:c.84C>G 7.__UNKNOWN__:g.148427298C>G ENSP00000326804:p.Ile28Met D3DWG3|O60719|Q08AL6|Q8IYW1 __UNKNOWN__ CCDS34772.1 . . . . . . . . . . C 18.71 3.681871 0.68042 . . ENSG00000055130 ENST00000409469;ENST00000325222;ENST00000433865 T;T 0.80033 -1.33;-1.33 5.79 1.87 0.25490 Cullin, N-terminal (1);Cullin repeat-like-containing domain (1); 0.000000 0.85682 D 0.000000 T 0.82084 0.4960 M 0.68593 2.085 0.80722 D 1 D 0.53745 0.962 P 0.55615 0.78 T 0.79065 -0.1956 10 0.62326 D 0.03 -25.454 5.4826 0.16731 0.1315:0.5367:0.0:0.3318 . 28 Q13616 CUL1_HUMAN M 28 ENSP00000387160:I28M;ENSP00000326804:I28M ENSP00000326804:I28M I + 3 3 CUL1 148058231 0.995000 0.38212 1.000000 0.80357 0.964000 0.63967 0.376000 0.20535 0.347000 0.23924 -1.083000 0.02208 ATC CUL1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000467785.1 + ENST00000325222.4 Missense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR SPATA31D1 389763 broad.mit.edu 37 9 84608005 84608005 + Nonsense_Mutation SNP C C T TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr9:84608005C>T ENST00000344803.2 + 4.0 2667 c.2620C>T c.(2620-2622)Cga>Tga p.R874* NM_001001670.2 NP_001001670.1 Q6ZQQ2 S31D1_HUMAN SPATA31 subfamily D, member 1 874.0 cell differentiation (GO:0030154)|spermatogenesis (GO:0007283) integral component of membrane (GO:0016021) AATTAAACATCGAAATCTGGT 0.438 0 108.0 93.0 97.0 9 84608005.0 1887.0 4129.0 6016.0 SO:0001587 stop_gained CCDS47986.1 9q21.32 2012-10-12 2012-10-12 2012-10-12 ENSG00000214929 ENSG00000214929 389763.0 389763.0 37283.0 protein-coding gene gene with protein product """family with sequence similarity 75, member D1""" FAM75D1 Standard NM_001001670 NM_001001670 Approved FLJ46321 uc004amn.3 Q6ZQQ2 OTTHUMG00000169122 ENST00000344803.2:c.2620C>T 9.__UNKNOWN__:g.84608005C>T ENSP00000341988:p.Arg874* __UNKNOWN__ CCDS47986.1 . . . . . . . . . . C 28.4 4.919733 0.92249 . . ENSG00000214929 ENST00000344803 . . . 2.86 -2.0 0.07433 . 2.170440 0.01781 N 0.031786 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 2.1269 4.6677 0.12673 0.3392:0.5051:0.1557:0.0 . . . . X 874 . ENSP00000341988:R874X R + 1 2 FAM75D1 83797825 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.173000 0.09854 -0.334000 0.08463 -1.035000 0.02400 CGA SPATA31D1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402325.1 + ENST00000344803.2 Nonsense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR IGHA2 0 broad.mit.edu 37 14 106054006 106054006 + RNA SNP G G A TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr14:106054006G>A ENST00000390539.2 - 0.0 512 P01877 IGHA2_HUMAN immunoglobulin heavy constant alpha 2 (A2m marker) antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751) antigen binding (GO:0003823) CACTGGACACGCTGTAGCAGC 0.622 0 32.0 42.0 38.0 14 106054006.0 2135.0 4225.0 6360.0 J00221 14q32.33 2012-10-02 ENSG00000211890 ENSG00000211890 3494.0 3494.0 """Immunoglobulins / IGH locus""" 5479.0 other immunoglobulin gene 147000.0 Standard NG_001019 NG_001019 Approved P01877 OTTHUMG00000152472 ENST00000390539.2: 14.__UNKNOWN__:g.106054006G>A __UNKNOWN__ IGHA2-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal IG_C_gene IG_C_gene OTTHUMT00000326338.1 - ENST00000390539.2 RNA SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR RAB3GAP2 25782 broad.mit.edu 37 1 220346011 220346011 + Missense_Mutation SNP T T A TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr1:220346011T>A ENST00000358951.2 - 22.0 2500 c.2384A>T c.(2383-2385)cAt>cTt p.H795L NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 795.0 establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087) cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234) enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137) 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) 39.0 GBM - Glioblastoma multiforme(131;0.0443) CAGCATGGTATGAAGACAGCA 0.383 0 133.0 118.0 123.0 1 220346011.0 2203.0 4300.0 6503.0 SO:0001583 missense AB020646 CCDS31028.1 1q41 2014-03-03 ENSG00000118873 ENSG00000118873 25782.0 25782.0 17168.0 protein-coding gene gene with protein product 609275.0 15696165, 16532399, 24482476 Standard NM_012414 NM_012414 Approved RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69 uc010puk.1 Q9H2M9 OTTHUMG00000037139 ENST00000358951.2:c.2384A>T 1.__UNKNOWN__:g.220346011T>A ENSP00000351832:p.His795Leu A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15 __UNKNOWN__ CCDS31028.1 . . . . . . . . . . T 18.92 3.726480 0.69074 . . ENSG00000118873 ENST00000358951 T 0.30981 1.51 5.69 5.69 0.88448 . 0.095287 0.64402 D 0.000001 T 0.27278 0.0669 L 0.48642 1.525 0.53688 D 0.999973 B 0.12630 0.006 B 0.14578 0.011 T 0.10019 -1.0648 10 0.08599 T 0.76 . 15.9415 0.79758 0.0:0.0:0.0:1.0 . 795 Q9H2M9 RBGPR_HUMAN L 795 ENSP00000351832:H795L ENSP00000351832:H795L H - 2 0 RAB3GAP2 218412634 1.000000 0.71417 0.930000 0.37139 0.982000 0.71751 4.890000 0.63178 2.157000 0.67596 0.533000 0.62120 CAT RAB3GAP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090205.2 - ENST00000358951.2 Missense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR APBA1 320 broad.mit.edu 37 9 72056012 72056012 + Missense_Mutation SNP C C T TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr9:72056012C>T ENST00000265381.4 - 11.0 2423 c.2201G>A c.(2200-2202)cGa>cAa p.R734Q NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 734.0 PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}. axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268) Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021) beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37.0 CAGCTTGACTCGGGACTGATT 0.473 0 136.0 119.0 124.0 9 72056012.0 2203.0 4300.0 6503.0 SO:0001583 missense AF029106 CCDS6630.1 9q13-q21 2008-07-18 2008-07-18 ENSG00000107282 ENSG00000107282 320.0 320.0 578.0 protein-coding gene gene with protein product 602414.0 MINT1 7678331, 7719031 Standard NM_001163 NM_001163 Approved D9S411E, X11 uc004ahh.2 Q02410 OTTHUMG00000019984 ENST00000265381.4:c.2201G>A 9.__UNKNOWN__:g.72056012C>T ENSP00000265381:p.Arg734Gln O14914|O60570|Q5VYR8 __UNKNOWN__ CCDS6630.1 . . . . . . . . . . C 11.44 1.639645 0.29157 . . ENSG00000107282 ENST00000265381 T 0.26518 1.73 5.91 5.91 0.95273 PDZ/DHR/GLGF (4); 0.000000 0.85682 D 0.000000 T 0.10895 0.0266 N 0.04508 -0.205 0.58432 D 0.999999 P 0.35139 0.486 B 0.19666 0.026 T 0.18116 -1.0347 10 0.05833 T 0.94 -14.8821 20.2985 0.98592 0.0:1.0:0.0:0.0 . 734 Q02410 APBA1_HUMAN Q 734 ENSP00000265381:R734Q ENSP00000265381:R734Q R - 2 0 APBA1 71245832 0.980000 0.34600 0.983000 0.44433 0.910000 0.53928 2.523000 0.45580 2.793000 0.96121 0.655000 0.94253 CGA APBA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052589.2 - ENST00000265381.4 Missense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR PSG2 5670 broad.mit.edu 37 19 43575927 43575927 + Missense_Mutation SNP C C T TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr19:43575927C>T ENST00000406487.1 - 4.0 987 c.889G>A c.(889-891)Ggg>Agg p.G297R NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 297.0 Ig-like C2-type 2. cell migration (GO:0016477)|female pregnancy (GO:0007565) extracellular region (GO:0005576) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49.0 Prostate(69;0.00682) ACATAGAGCCCGCTATGCTTT 0.468 0 177.0 183.0 181.0 19 43575927.0 2202.0 4299.0 6501.0 SO:0001583 missense CCDS12616.1 19q13.1-q13.2 2013-01-29 ENSG00000242221 ENSG00000242221 5670.0 5670.0 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 9519.0 protein-coding gene gene with protein product """pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8""" 176391.0 PSBG2 2377620 Standard NM_031246 NM_031246 Approved PSGGB, PSG1, CEA uc002ovr.3 P11465 OTTHUMG00000151547 ENST00000406487.1:c.889G>A 19.__UNKNOWN__:g.43575927C>T ENSP00000385706:p.Gly297Arg Q8TCD9|Q9UEA4|Q9UQ78 __UNKNOWN__ CCDS12616.1 . . . . . . . . . . c 11.51 1.661625 0.29515 . . ENSG00000242221 ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917 D 0.83992 -1.79 1.26 1.26 0.21427 Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1); . . . . D 0.93828 0.8026 H 0.99444 4.57 0.09310 N 1 D;D 0.76494 0.999;0.999 D;D 0.81914 0.995;0.99 T 0.83206 -0.0076 9 0.87932 D 0 . 5.8601 0.18743 0.0:1.0:0.0:0.0 . 297;297 B5MCM8;P11465 .;PSG2_HUMAN R 297 ENSP00000385706:G297R ENSP00000332984:G297R G - 1 0 PSG2 48267767 0.019000 0.18553 0.002000 0.10522 0.001000 0.01503 2.022000 0.41030 0.659000 0.30945 0.398000 0.26397 GGG PSG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000323083.1 - ENST00000406487.1 Missense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR KDM6B 23135 broad.mit.edu 37 17 7752181 7752181 + Missense_Mutation SNP G G A TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr17:7752181G>A ENST00000254846.5 + 11.0 2964 c.2575G>A c.(2575-2577)Ggc>Agc p.G859S KDM6B_ENST00000448097.2_Missense_Mutation_p.G859S NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 859.0 Pro-rich. cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) nucleoplasm (GO:0005654)|nucleus (GO:0005634) dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565) 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) 37.0 TAGCGCCCAGGGCTCCCCACA 0.721 0 25.0 32.0 30.0 17 7752181.0 2190.0 4276.0 6466.0 SO:0001583 missense AB002344 CCDS32552.1 17p13.1 2011-07-01 2009-04-17 2009-04-17 ENSG00000132510 23135.0 23135.0 """Chromatin-modifying enzymes / K-demethylases""" 29012.0 protein-coding gene gene with protein product 611577.0 """jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase""" JMJD3 10662545, 9205841 Standard XM_043272 NM_001080424 Approved KIAA0346 uc002giw.1 O15054 ENST00000254846.5:c.2575G>A 17.__UNKNOWN__:g.7752181G>A ENSP00000254846:p.Gly859Ser C9IZ40|Q96G33 __UNKNOWN__ CCDS32552.1 . . . . . . . . . . G 13.90 2.376452 0.42105 . . ENSG00000132510 ENST00000254846;ENST00000448097 T;T 0.76839 -1.05;-1.05 4.47 3.42 0.39159 . 0.445393 0.21996 N 0.066076 T 0.59362 0.2188 N 0.14661 0.345 0.32416 N 0.550014 B;B 0.33103 0.16;0.397 B;B 0.32090 0.045;0.14 T 0.64829 -0.6315 10 0.26408 T 0.33 -15.8647 11.6902 0.51510 0.0:0.0:0.8227:0.1773 . 859;859 O15054;O15054-1 KDM6B_HUMAN;. S 859 ENSP00000254846:G859S;ENSP00000412513:G859S ENSP00000254846:G859S G + 1 0 KDM6B 7692906 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 1.647000 0.37260 2.490000 0.84030 0.462000 0.41574 GGC KDM6B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000440247.1 + ENST00000254846.5 Missense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR CYP11B2 1585 broad.mit.edu 37 8 143994109 143994109 + Missense_Mutation SNP C C T TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr8:143994109C>T ENST00000323110.2 - 8.0 1237 c.1235G>A c.(1234-1236)cGc>cAc p.R412H NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 412.0 aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805) mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507) cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39.0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421) GGCGGCATTGCGACCCAGCGA 0.602 Familial Hyperaldosteronism type I 0 95.0 93.0 94.0 8 143994109.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database Dexamethasone Sensitive Aldosteronism, FH-I X54741 CCDS6393.1 8q21-q22 2013-06-19 2003-01-14 ENSG00000179142 ENSG00000179142 1585.0 1585.0 1.14.15.4 """Cytochrome P450s""" 2592.0 protein-coding gene gene with protein product """steroid 11-beta-monooxygenase""" 124080.0 """cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2""" CYP11B 1303253 Standard NM_000498 Approved CYP11BL, CPN2, P-450C18, P450aldo, ALDOS uc003yxk.1 P19099 OTTHUMG00000160254 ENST00000323110.2:c.1235G>A 8.__UNKNOWN__:g.143994109C>T ENSP00000325822:p.Arg412His B0ZBE4|Q16726 __UNKNOWN__ CCDS6393.1 . . . . . . . . . . . 17.49 3.403842 0.62288 . . ENSG00000179142 ENST00000323110 T 0.72942 -0.7 3.52 3.52 0.40303 . 0.000000 0.45867 D 0.000328 T 0.73853 0.3640 M 0.64630 1.985 0.46298 D 0.998976 P 0.45715 0.865 P 0.49922 0.626 T 0.76321 -0.3002 10 0.49607 T 0.09 . 12.9218 0.58237 0.0:1.0:0.0:0.0 . 412 P19099 C11B2_HUMAN H 412 ENSP00000325822:R412H ENSP00000325822:R412H R - 2 0 CYP11B2 143991111 0.999000 0.42202 0.641000 0.29422 0.009000 0.06853 4.416000 0.59815 1.937000 0.56155 0.563000 0.77884 CGC CYP11B2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359904.1 - ENST00000323110.2 Missense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR CD5L 922 broad.mit.edu 37 1 157805895 157805895 + Missense_Mutation SNP G G A rs145458344 TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr1:157805895G>A ENST00000368174.4 - 3.0 202 c.106C>T c.(106-108)Cgg>Tgg p.R36W CD5L_ENST00000484609.1_5'UTR NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 36.0 SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}. apoptotic process (GO:0006915)|cellular defense response (GO:0006968) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) scavenger receptor activity (GO:0005044) p.R36W(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52.0 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ACCTCCACCCGCCCTTCACAG 0.632 1 Substitution - Missense(1) endometrium(1) 57.0 58.0 58.0 1 157805895.0 2203.0 4300.0 6503.0 SO:0001583 missense U82812 CCDS1171.1 1q21-q23 2008-02-05 2006-03-28 ENSG00000073754 ENSG00000073754 922.0 922.0 1690.0 protein-coding gene gene with protein product 602592.0 """apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)""" API6 9045627 Standard NM_005894 NM_005894 Approved Spalpha uc001frk.4 O43866 OTTHUMG00000022440 ENST00000368174.4:c.106C>T 1.__UNKNOWN__:g.157805895G>A ENSP00000357156:p.Arg36Trp A8K7M5|Q6UX63 __UNKNOWN__ CCDS1171.1 . . . . . . . . . . G 15.43 2.832243 0.50845 . . ENSG00000073754 ENST00000368174 T 0.36340 1.26 4.85 1.81 0.25067 Speract/scavenger receptor (4);Speract/scavenger receptor-related (2); 0.559620 0.14794 N 0.298079 T 0.62380 0.2423 H 0.96916 3.905 0.35581 D 0.806289 D 0.89917 1.0 D 0.97110 1.0 T 0.72014 -0.4418 10 0.87932 D 0 . 11.8614 0.52467 0.0:0.0:0.3868:0.6132 . 36 O43866 CD5L_HUMAN W 36 ENSP00000357156:R36W ENSP00000357156:R36W R - 1 2 CD5L 156072519 0.201000 0.23410 0.722000 0.30670 0.306000 0.27790 1.084000 0.30828 0.195000 0.20347 0.563000 0.77884 CGG CD5L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058346.1 - ENST00000368174.4 Missense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR CNTN1 1272 broad.mit.edu 37 12 41333285 41333285 + Missense_Mutation SNP C C A TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr12:41333285C>A ENST00000551295.2 + 12.0 1494 c.1377C>A c.(1375-1377)agC>agA p.S459R CNTN1_ENST00000347616.1_Missense_Mutation_p.S459R|CNTN1_ENST00000547849.1_Missense_Mutation_p.S459R|CNTN1_ENST00000348761.2_Missense_Mutation_p.S448R|CNTN1_ENST00000360099.3_Missense_Mutation_p.S459R|CNTN1_ENST00000547702.1_Missense_Mutation_p.S459R NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 459.0 Ig-like C2-type 5. axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90.0 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TCAATAGCAGCAGGTCAGTGC 0.353 0 70.0 69.0 69.0 12 41333285.0 2203.0 4300.0 6503.0 SO:0001583 missense Z21488 CCDS8737.1, CCDS8738.1, CCDS58225.1 12q11-q12 2014-01-30 ENSG00000018236 1272.0 1272.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands""" 2171.0 protein-coding gene gene with protein product """glycoprotein gP135""" 600016.0 7959734, 8586965 Standard NM_001843 NM_001843 Approved F3, GP135 uc031qgz.1 Q12860 ENST00000551295.2:c.1377C>A 12.__UNKNOWN__:g.41333285C>A ENSP00000447006:p.Ser459Arg A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466 __UNKNOWN__ CCDS8737.1 . . . . . . . . . . C 13.04 2.117431 0.37339 . . ENSG00000018236 ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761 T;T;T;T;T;T 0.31510 1.49;1.49;1.49;1.49;1.49;1.49 4.98 2.17 0.27698 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.198109 0.52532 D 0.000062 T 0.37732 0.1014 L 0.39633 1.23 0.38069 D 0.936325 P;D;D 0.59767 0.862;0.983;0.986 P;D;D 0.70227 0.826;0.945;0.968 T 0.19647 -1.0299 10 0.23302 T 0.38 . 7.6787 0.28500 0.0:0.6059:0.0:0.3941 . 459;448;459 Q12860-3;Q12860-2;Q12860 .;.;CNTN1_HUMAN R 459;459;459;459;459;448 ENSP00000448004:S459R;ENSP00000447006:S459R;ENSP00000448653:S459R;ENSP00000325660:S459R;ENSP00000353213:S459R;ENSP00000261160:S448R ENSP00000325660:S459R S + 3 2 CNTN1 39619552 0.971000 0.33674 0.994000 0.49952 0.488000 0.33401 0.266000 0.18534 0.769000 0.33313 0.561000 0.74099 AGC CNTN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403692.2 + ENST00000551295.2 Missense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR CRHR1 1394 broad.mit.edu 37 17 43912060 43912060 + Missense_Mutation SNP G G A TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr17:43912060G>A ENST00000314537.5 + 13.0 1403 c.1178G>A c.(1177-1179)cGt>cAt p.R393H CRHR1_ENST00000339069.5_Missense_Mutation_p.V247M|CRHR1_ENST00000398285.3_Missense_Mutation_p.R422H|CRHR1_ENST00000352855.5_Missense_Mutation_p.R353H|CRHR1_ENST00000293493.7_Missense_Mutation_p.R218H|CRHR1_ENST00000577353.1_Missense_Mutation_p.R379H 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 1 422.0 activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542) apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982) corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24.0 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) CGAGTGGCCCGTGCCATGTCC 0.627 Ovarian(110;57 1568 10207 38216 49865) 0 67.0 82.0 77.0 17 43912060.0 2195.0 4296.0 6491.0 SO:0001583 missense L23332 CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1 17q12-q22 2012-08-14 ENSG00000120088 ENSG00000120088 1394.0 1394.0 """GPCR / Class B : Corticotropin-releasing factor receptors""" 2357.0 protein-coding gene gene with protein product """corticotropin-releasing factor receptor""" 122561.0 CRHR 7590738 Standard NM_004382 Approved CRF-R, CRF1 uc010dap.3 P34998 ENST00000314537.5:c.1178G>A 17.__UNKNOWN__:g.43912060G>A ENSP00000326060:p.Arg393His B4DIE9|Q13008|Q4QRJ1|Q9UK64 __UNKNOWN__ CCDS42350.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 25.7|25.7 4.668774|4.668774 0.88348|0.88348 .|. .|. ENSG00000120088|ENSG00000120088 ENST00000293493;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855|ENST00000339069 T;T;T;T|T 0.73575|0.50277 -0.76;-0.76;-0.76;-0.76|0.75 5.24|5.24 5.24|5.24 0.73138|0.73138 .|. 0.171961|. 0.52532|. D|. 0.000063|. T|T 0.47673|0.47673 0.1458|0.1458 M|M 0.68593|0.68593 2.085|2.085 0.58432|0.58432 D|D 0.999997|0.999997 D;D;D;D;D|P 0.89917|0.35793 1.0;1.0;0.974;0.998;1.0|0.521 D;D;P;D;D|B 0.68483|0.31337 0.958;0.957;0.731;0.938;0.958|0.128 T|T 0.55798|0.55798 -0.8084|-0.8084 10|9 0.46703|0.87932 T|D 0.11|0 .|. 16.3315|16.3315 0.83023|0.83023 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 379;422;292;353;393|247 P34998-4;P34998;B3TIK8;P34998-3;P34998-2|B4DMR5 .;CRFR1_HUMAN;.;.;.|. H|M 218;422;393;379;353|247 ENSP00000293493:R218H;ENSP00000381333:R422H;ENSP00000326060:R393H;ENSP00000344068:R353H|ENSP00000340522:V247M ENSP00000293493:R218H|ENSP00000340522:V247M R|V +|+ 2|1 0|0 CRHR1|CRHR1 41267841|41267841 0.982000|0.982000 0.34865|0.34865 0.985000|0.985000 0.45067|0.45067 0.793000|0.793000 0.44817|0.44817 5.316000|5.316000 0.65815|0.65815 2.451000|2.451000 0.82905|0.82905 0.555000|0.555000 0.69702|0.69702 CGT|GTG CRHR1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000441242.2 + ENST00000314537.5 Missense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR OGFR 11054 broad.mit.edu 37 20 61438939 61438939 + Missense_Mutation SNP G G T TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr20:61438939G>T ENST00000290291.6 + 2.0 247 c.222G>T c.(220-222)agG>agT p.R74S OGFR_ENST00000370461.1_5'UTR NM_007346.2 NP_031372.2 Q9NZT2 OGFR_HUMAN opioid growth factor receptor 74.0 DAGDEDEESEEPRAARPSSFQSRMTGSRNWRATRDMCRYRH NYP -> GARRALGVLGQPGGLQMRLPERHGGPQGSLCLMD PCCPLSLALQ (in Ref. 5). {ECO:0000305}. opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) opioid receptor activity (GO:0004985) endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17.0 Breast(26;3.65e-08) ACATGTGTAGGTATCGGCACA 0.582 0 84.0 68.0 74.0 20 61438939.0 2201.0 4300.0 6501.0 SO:0001583 missense AF109134 CCDS13504.1 20q13.3 2008-05-02 ENSG00000060491 ENSG00000060491 11054.0 11054.0 15768.0 protein-coding gene gene with protein product 606459.0 10677613 Standard NM_007346 Approved 7-60 uc002ydj.3 Q9NZT2 OTTHUMG00000032937 ENST00000290291.6:c.222G>T 20.__UNKNOWN__:g.61438939G>T ENSP00000290291:p.Arg74Ser O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4 __UNKNOWN__ CCDS13504.1 . . . . . . . . . . G 12.76 2.035619 0.35893 . . ENSG00000060491 ENST00000290291;ENST00000370468;ENST00000357163;ENST00000450048 T;T 0.47177 1.79;0.85 4.39 0.508 0.16972 . 0.170156 0.51477 D 0.000087 T 0.43545 0.1252 L 0.34521 1.04 0.80722 D 1 D;D 0.60575 0.988;0.988 P;P 0.57204 0.815;0.815 T 0.36625 -0.9740 10 0.72032 D 0.01 -12.5259 4.4209 0.11479 0.2858:0.1858:0.5285:0.0 . 57;74 Q05BV5;Q9NZT2 .;OGFR_HUMAN S 74;74;74;15 ENSP00000290291:R74S;ENSP00000359499:R74S ENSP00000290291:R74S R + 3 2 OGFR 60909384 0.598000 0.26882 0.989000 0.46669 0.103000 0.19146 -0.327000 0.07955 0.344000 0.23847 0.484000 0.47621 AGG OGFR-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000080067.1 + ENST00000290291.6 Missense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR TPX2 22974 broad.mit.edu 37 20 30366768 30366768 + Missense_Mutation SNP G G T TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr20:30366768G>T ENST00000300403.6 + 10.0 1563 c.1035G>T c.(1033-1035)agG>agT p.R345S TPX2_ENST00000340513.4_Missense_Mutation_p.R345S NM_012112.4 NP_036244.2 Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 345.0 activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236) axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819) ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901) cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28.0 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) ATCATTTGAGGAGCAAGAAGG 0.398 0 94.0 88.0 90.0 20 30366768.0 2203.0 4300.0 6503.0 SO:0001583 missense AF098158 CCDS13190.1 20q11.2 2013-07-23 2013-07-23 2003-10-08 ENSG00000088325 ENSG00000088325 22974.0 22974.0 1249.0 protein-coding gene gene with protein product 605917.0 """chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)""" C20orf2, C20orf1 9207457, 10393424 Standard NM_012112 Approved p100, DIL-2 uc002wwp.1 Q9ULW0 OTTHUMG00000032190 ENST00000300403.6:c.1035G>T 20.__UNKNOWN__:g.30366768G>T ENSP00000300403:p.Arg345Ser Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1 __UNKNOWN__ CCDS13190.1 . . . . . . . . . . G 17.72 3.458407 0.63401 . . ENSG00000088325 ENST00000300403;ENST00000340513 T 0.42900 0.96 4.93 3.98 0.46160 . 0.051609 0.85682 D 0.000000 T 0.60405 0.2266 M 0.72894 2.215 0.52501 D 0.999958 D;P 0.76494 0.999;0.911 D;B 0.78314 0.991;0.219 T 0.63567 -0.6608 10 0.66056 D 0.02 -18.8146 10.7304 0.46093 0.089:0.0:0.911:0.0 . 345;345 Q96RR5;Q9ULW0 .;TPX2_HUMAN S 345 ENSP00000341145:R345S ENSP00000300403:R345S R + 3 2 TPX2 29830429 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 0.821000 0.27338 1.440000 0.47531 -0.140000 0.14226 AGG TPX2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078569.2 + ENST00000300403.6 Missense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR ABCA12 26154 broad.mit.edu 37 2 215847076 215847076 + Missense_Mutation SNP G G A TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr2:215847076G>A ENST00000272895.7 - 30.0 4633 c.4414C>T c.(4414-4416)Cgt>Tgt p.R1472C ABCA12_ENST00000389661.4_Missense_Mutation_p.R1154C NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1472.0 ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}. cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129) cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886) apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102) 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) 139.0 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) CTCTTATGACGATGGCTATAT 0.343 Ovarian(66;664 1488 5121 34295) 0 139.0 128.0 132.0 2 215847076.0 2203.0 4300.0 6503.0 SO:0001583 missense AF418105 CCDS33372.1, CCDS33373.1 2q34 2012-03-14 ENSG00000144452 ENSG00000144452 26154.0 26154.0 """ATP binding cassette transporters / subfamily A""" 14637.0 protein-coding gene gene with protein product 607800.0 """ichthyosis congenita II, lamellar ichthyosis B""" ICR2B 11435397, 12915478, 8845852, 10094194 Standard NM_173076 NM_015657 Approved DKFZP434G232, LI2 uc002vew.3 Q86UK0 OTTHUMG00000154801 ENST00000272895.7:c.4414C>T 2.__UNKNOWN__:g.215847076G>A ENSP00000272895:p.Arg1472Cys Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5 __UNKNOWN__ CCDS33372.1 . . . . . . . . . . G 20.2 3.943906 0.73672 . . ENSG00000144452 ENST00000272895;ENST00000389661 D;D 0.93659 -3.26;-3.26 5.65 5.65 0.86999 ATPase, AAA+ type, core (1);ABC transporter-like (2); 0.162847 0.44688 D 0.000439 D 0.96744 0.8937 M 0.78637 2.42 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.72075 0.976;0.944 D 0.96534 0.9395 10 0.72032 D 0.01 . 19.9142 0.97043 0.0:0.0:1.0:0.0 . 1472;1154 Q86UK0;Q86UK0-2 ABCAC_HUMAN;. C 1472;1154 ENSP00000272895:R1472C;ENSP00000374312:R1154C ENSP00000272895:R1472C R - 1 0 ABCA12 215555321 1.000000 0.71417 1.000000 0.80357 0.977000 0.68977 5.966000 0.70395 2.941000 0.99782 0.655000 0.94253 CGT ABCA12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337111.1 - ENST00000272895.7 Missense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR BMP1 649 broad.mit.edu 37 8 22067192 22067192 + Missense_Mutation SNP G G A TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr8:22067192G>A ENST00000306385.5 + 19.0 3480 c.2810G>A c.(2809-2811)cGc>cAc p.R937H BMP1_ENST00000354870.5_3'UTR NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 937.0 CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}. cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281) extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270) breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30.0 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) AGGCTGGGGCGCTACTGTGGC 0.657 0 92.0 90.0 91.0 8 22067192.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS6026.1, CCDS34856.1 8p21 2013-02-06 2004-08-09 ENSG00000168487 ENSG00000168487 649.0 649.0 3.4.24.19 """Bone morphogenetic proteins""" 1067.0 protein-coding gene gene with protein product """procollagen C-endopeptidase""" 112264.0 """procollagen C-endopeptidase""" PCOLC 2004778 Standard NM_006132 NM_006129 Approved uc003xbg.3 P13497 OTTHUMG00000097761 ENST00000306385.5:c.2810G>A 8.__UNKNOWN__:g.22067192G>A ENSP00000305714:p.Arg937His A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38 __UNKNOWN__ CCDS6026.1 . . . . . . . . . . G 21.0 4.082991 0.76642 . . ENSG00000168487 ENST00000306385 T 0.20069 2.1 4.64 4.64 0.57946 CUB (5); 0.000000 0.39274 U 0.001412 T 0.31857 0.0810 M 0.90252 3.1 0.80722 D 1 P 0.47409 0.895 B 0.36186 0.219 T 0.53683 -0.8404 10 0.59425 D 0.04 . 16.4279 0.83824 0.0:0.0:1.0:0.0 . 937 P13497 BMP1_HUMAN H 937 ENSP00000305714:R937H ENSP00000305714:R937H R + 2 0 BMP1 22123137 1.000000 0.71417 1.000000 0.80357 0.941000 0.58515 9.657000 0.98554 2.411000 0.81874 0.467000 0.42956 CGC BMP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214995.2 + ENST00000306385.5 Missense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR TSHZ1 10194 broad.mit.edu 37 18 72998961 72998961 + Nonsense_Mutation SNP C C G TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr18:72998961C>G ENST00000580243.1 + 2.0 1947 c.1599C>G c.(1597-1599)taC>taG p.Y533* TSHZ1_ENST00000322038.5_Nonsense_Mutation_p.Y488* Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 533.0 anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42.0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GCACCCTGTACCCGTACCTGC 0.587 0 113.0 115.0 114.0 18 72998961.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AF039698 CCDS12009.1 18q22.3 2013-11-20 2007-07-16 2006-03-14 ENSG00000179981 ENSG00000179981 10194.0 10194.0 """Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type""" 10669.0 protein-coding gene gene with protein product 614427.0 """serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1""" SDCCAG33 17586487 Standard NM_005786 NM_005786 Approved NY-CO-33, TSH1 uc002lly.4 Q6ZSZ6 OTTHUMG00000132859 ENST00000580243.1:c.1599C>G 18.__UNKNOWN__:g.72998961C>G ENSP00000464391:p.Tyr533* O60534|Q4LE29|Q53EU4 __UNKNOWN__ . . . . . . . . . . C 35 5.476451 0.96291 . . ENSG00000179981 ENST00000322038 . . . 5.59 0.474 0.16768 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 -17.029 8.604 0.33762 0.0:0.3796:0.0:0.6204 . . . . X 488 . ENSP00000323584:Y488X Y + 3 2 TSHZ1 71127949 1.000000 0.71417 0.992000 0.48379 0.276000 0.26787 1.200000 0.32247 2.625000 0.88918 0.561000 0.74099 TAC TSHZ1-005 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000444913.1 + ENST00000580243.1 Nonsense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR TEX14 56155 broad.mit.edu 37 17 56699053 56699053 + Missense_Mutation SNP C C T TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr17:56699053C>T ENST00000240361.8 - 5.0 597 c.512G>A c.(511-513)cGg>cAg p.R171Q TEX14_ENST00000389934.3_Missense_Mutation_p.R171Q|TEX14_ENST00000349033.5_Missense_Mutation_p.R171Q Q8IWB6 TEX14_HUMAN testis expressed 14 171.0 attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091) cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901) 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) 81.0 Medulloblastoma(34;0.127)|all_neural(34;0.237) GTAGACAAGCCGCTGCGGGGA 0.587 0 66.0 57.0 60.0 17 56699053.0 2203.0 4300.0 6503.0 SO:0001583 missense AF285601 CCDS32692.1, CCDS32693.1, CCDS56042.1 17q22 2013-09-20 2007-03-13 ENSG00000121101 ENSG00000121101 56155.0 56155.0 11737.0 protein-coding gene gene with protein product """cancer/testis antigen 113""" 605792.0 """testis expressed sequence 14""" 11279525, 12711554 Standard NM_031272 Approved CT113 uc010dcz.2 Q8IWB6 OTTHUMG00000179245 ENST00000240361.8:c.512G>A 17.__UNKNOWN__:g.56699053C>T ENSP00000240361:p.Arg171Gln A6NH19|Q7RTP3|Q8ND97|Q9BXT9 __UNKNOWN__ CCDS56042.1 . . . . . . . . . . C 11.21 1.570992 0.28003 . . ENSG00000121101 ENST00000240361;ENST00000389934;ENST00000349033 T;T;T 0.80393 -1.36;-1.37;-1.3 5.42 4.46 0.54185 . 0.308600 0.27464 N 0.019246 T 0.66877 0.2834 L 0.32530 0.975 0.22050 N 0.999396 B;B;B 0.23316 0.05;0.083;0.083 B;B;B 0.16722 0.007;0.016;0.016 T 0.54662 -0.8260 10 0.35671 T 0.21 -9.0002 5.138 0.14945 0.1467:0.6316:0.1422:0.0796 . 171;171;171 Q8IWB6;Q8IWB6-3;Q8IWB6-2 TEX14_HUMAN;.;. Q 171 ENSP00000240361:R171Q;ENSP00000374584:R171Q;ENSP00000268910:R171Q ENSP00000240361:R171Q R - 2 0 TEX14 54054052 0.662000 0.27439 0.998000 0.56505 0.155000 0.21991 0.185000 0.16958 1.426000 0.47256 -0.244000 0.11960 CGG TEX14-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000445446.1 - ENST00000240361.8 Missense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR OGT 8473 broad.mit.edu 37 X 70767856 70767856 + Missense_Mutation SNP A A G TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chrX:70767856A>G ENST00000373719.3 + 5.0 848 c.631A>G c.(631-633)Att>Gtt p.I211V OGT_ENST00000373701.3_Missense_Mutation_p.I201V NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 211.0 apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363) 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) 43.0 Renal(35;0.156) TTGGCTTGCAATTCATCACTT 0.353 0 124.0 114.0 118.0 X 70767856.0 2203.0 4300.0 6503.0 SO:0001583 missense U77413 CCDS14414.1, CCDS35502.1 Xq13 2013-07-24 2012-05-04 ENSG00000147162 ENSG00000147162 8473.0 8473.0 2.4.1.255 """Tetratricopeptide (TTC) repeat domain containing""" 8127.0 protein-coding gene gene with protein product """UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase""" 300255.0 """O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)""" 9083068 Standard NM_003605, NM_181672 NM_181672 Approved O-GLCNAC, HRNT1, MGC22921, FLJ23071 uc004eaa.2 O15294 OTTHUMG00000033316 ENST00000373719.3:c.631A>G X.__UNKNOWN__:g.70767856A>G ENSP00000362824:p.Ile211Val Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57 __UNKNOWN__ CCDS14414.1 . . . . . . . . . . a 14.06 2.424036 0.43020 . . ENSG00000147162 ENST00000373719;ENST00000373701 T;T 0.61742 0.08;0.08 5.07 5.07 0.68467 Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1); 0.000000 0.85682 D 0.000000 T 0.59183 0.2175 L 0.31371 0.925 0.80722 D 1 B;B;P 0.43231 0.085;0.218;0.801 B;B;P 0.54270 0.069;0.114;0.747 T 0.56992 -0.7887 10 0.32370 T 0.25 -32.3583 13.9865 0.64339 1.0:0.0:0.0:0.0 . 85;201;211 Q548W1;O15294-3;O15294 .;.;OGT1_HUMAN V 211;201 ENSP00000362824:I211V;ENSP00000362805:I201V ENSP00000362805:I201V I + 1 0 OGT 70684581 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 9.135000 0.94478 1.878000 0.54408 0.478000 0.44815 ATT OGT-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000081829.3 + ENST00000373719.3 Missense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR PRB2 653247 broad.mit.edu 37 12 11546415 11546415 + Silent SNP T T C TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr12:11546415T>C ENST00000389362.4 - 3.0 632 c.597A>G c.(595-597)ggA>ggG p.G199G PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 P02812 PRB2_HUMAN proline-rich protein BstNI subfamily 2 199.0 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR]. extracellular region (GO:0005576) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37.0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) CTTGTGGCTTTCCTGGAGGAG 0.597 0 81.0 85.0 84.0 12 11546415.0 2109.0 4178.0 6287.0 SO:0001819 synonymous_variant K03208 CCDS41757.2 12p13.2 2012-10-02 ENSG00000121335 ENSG00000121335 653247.0 653247.0 9338.0 protein-coding gene gene with protein product 168810.0 8554050 Standard NM_006248 NM_006248 Approved PRPPRB1, Ps, cP7 uc010shk.1 P02812 OTTHUMG00000156975 ENST00000389362.4:c.597A>G 12.__UNKNOWN__:g.11546415T>C O00599|P02811|P04281 __UNKNOWN__ CCDS41757.2 PRB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346925.2 - ENST00000389362.4 Silent SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR MYOM3 127294 broad.mit.edu 37 1 24392434 24392434 + Missense_Mutation SNP G G A TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr1:24392434G>A ENST00000374434.3 - 29.0 3643 c.3481C>T c.(3481-3483)Cca>Tca p.P1161S MYOM3_ENST00000329601.7_Missense_Mutation_p.P1163S|MYOM3_ENST00000338909.5_Missense_Mutation_p.P54S|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Missense_Mutation_p.P1164S NM_152372.3 NP_689585.3 Q5VTT5 MYOM3_HUMAN myomesin 3 1161.0 Ig-like C2-type 3. M band (GO:0031430) protein homodimerization activity (GO:0042803) 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) 68.0 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) TGACCATCTGGCATCTCTGCC 0.542 0 155.0 152.0 153.0 1 24392434.0 1944.0 4136.0 6080.0 SO:0001583 missense AK093280 CCDS41281.1 1p36 2013-02-11 2012-10-17 ENSG00000142661 ENSG00000142661 127294.0 127294.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 26679.0 protein-coding gene gene with protein product """myomesin family, member 3""" 18177667 Standard NM_152372 NM_152372 Approved FLJ35961 uc001bin.4 Q5VTT5 OTTHUMG00000002969 ENST00000374434.3:c.3481C>T 1.__UNKNOWN__:g.24392434G>A ENSP00000363557:p.Pro1161Ser A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54 __UNKNOWN__ CCDS41281.1 . . . . . . . . . . G 7.733 0.699596 0.15106 . . ENSG00000142661 ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442;ENST00000329601 T;T;T;T 0.54279 2.04;2.8;2.8;0.58 5.76 4.85 0.62838 Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.257228 0.38272 N 0.001753 T 0.33206 0.0855 L 0.41710 1.295 0.21220 N 0.999753 B;B;B 0.31153 0.02;0.31;0.041 B;B;B 0.27887 0.018;0.084;0.032 T 0.25916 -1.0118 10 0.06625 T 0.88 . 4.6273 0.12484 0.1362:0.1224:0.6147:0.1267 . 1161;1161;54 Q5VTT5-2;Q5VTT5;Q5VTT5-3 .;MYOM3_HUMAN;. S 54;1161;1164;54;1163 ENSP00000342689:P54S;ENSP00000363557:P1161S;ENSP00000332670:P1164S;ENSP00000328415:P1163S ENSP00000328415:P1163S P - 1 0 MYOM3 24265021 0.989000 0.36119 0.052000 0.19188 0.010000 0.07245 2.093000 0.41710 1.449000 0.47699 -0.119000 0.15052 CCA MYOM3-001 NOVEL basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000008272.2 - ENST00000374434.3 Missense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR SDC2 6383 broad.mit.edu 37 8 97621721 97621721 + Missense_Mutation SNP G G T TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr8:97621721G>T ENST00000519914.1 + 5.0 711 c.464G>T c.(463-465)cGc>cTc p.R155L SDC2_ENST00000518385.1_Missense_Mutation_p.R148L|SDC2_ENST00000522911.1_Missense_Mutation_p.R155L|SDC2_ENST00000302190.4_Missense_Mutation_p.R184L P34741 SDC2_HUMAN syndecan 2 184.0 carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060) Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) PDZ domain binding (GO:0030165) breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2) 16.0 Breast(36;3.41e-05) Sargramostim(DB00020) CTTGGAGAACGCAAACCATCC 0.413 G 1.0 0.0005 0.0028 2184.0 1.0 , , 0.0003 0.0005 1.0 LOWCOV,EXOME 0.0005 SNP 0 129.0 114.0 119.0 8 97621721.0 2203.0 4300.0 6503.0 SO:0001583 missense BC030133 CCDS6272.1 8q22-q23 2011-08-11 2007-02-15 ENSG00000169439 ENSG00000169439 6383.0 6383.0 """Proteoglycans / Cell Surface : Syndecans"", ""CD molecules""" 10659.0 protein-coding gene gene with protein product """syndecan proteoglycan 2""" 142460.0 """heparan sulfate proteoglycan 1, cell surface-associated""" HSPG, HSPG1 8187643 Standard NM_002998 NM_002998 Approved fibroglycan, SYND2, CD362 uc003yhv.1 P34741 OTTHUMG00000164689 ENST00000519914.1:c.464G>T 8.__UNKNOWN__:g.97621721G>T ENSP00000428256:p.Arg155Leu B3KQA3|Q6PIS6|Q9H6V1 __UNKNOWN__ 1 4.578754578754579E-4 0 0.0 1 0.0027624309392265192 0 0.0 0 0.0 G 17.58 3.424369 0.62733 . . ENSG00000169439 ENST00000302190;ENST00000518385;ENST00000545117;ENST00000546193;ENST00000522911;ENST00000519914 T;T;T;T 0.34472 1.36;1.43;1.38;1.38 6.05 6.05 0.98169 Neurexin/syndecan/glycophorin C (1); 0.000000 0.85682 D 0.000000 T 0.58524 0.2128 M 0.66939 2.045 0.80722 D 1 D 0.76494 0.999 D 0.71656 0.974 T 0.56679 -0.7939 10 0.56958 D 0.05 -10.3267 16.0133 0.80420 0.0:0.1336:0.8664:0.0 . 184 P34741 SDC2_HUMAN L 184;148;184;174;155;155 ENSP00000307046:R184L;ENSP00000429045:R148L;ENSP00000427784:R155L;ENSP00000428256:R155L ENSP00000307046:R184L R + 2 0 SDC2 97690897 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 7.845000 0.86875 2.878000 0.98634 0.650000 0.86243 CGC SDC2-003 PUTATIVE alternative_5_UTR|basic|exp_conf protein_coding protein_coding OTTHUMT00000379754.1 + ENST00000519914.1 Missense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR PSAT1 29968 broad.mit.edu 37 9 80923397 80923397 + Missense_Mutation SNP G G A TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr9:80923397G>A ENST00000376588.3 + 6.0 706 c.638G>A c.(637-639)cGt>cAt p.R213H PSAT1_ENST00000347159.2_Missense_Mutation_p.R213H NM_058179.2 NP_478059.1 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 213.0 cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20.0 GTGATTGTCCGTGATGACCTG 0.522 Colon(34;187 791 10662 18313 37609) 0 144.0 122.0 129.0 9 80923397.0 2203.0 4300.0 6503.0 SO:0001583 missense BC004863 CCDS6659.1, CCDS6660.1 9q21.2 2008-08-11 ENSG00000135069 ENSG00000135069 29968.0 29968.0 19129.0 protein-coding gene gene with protein product 610936.0 12633500, 3651428 Standard NM_021154 NM_058179 Approved PSA uc004ala.3 Q9Y617 OTTHUMG00000020066 ENST00000376588.3:c.638G>A 9.__UNKNOWN__:g.80923397G>A ENSP00000365773:p.Arg213His Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12 __UNKNOWN__ CCDS6660.1 . . . . . . . . . . G 36 5.622463 0.96660 . . ENSG00000135069 ENST00000421149;ENST00000347159;ENST00000376588 T;T 0.67171 -0.25;-0.25 5.59 5.59 0.84812 Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1); 0.000000 0.85682 D 0.000000 D 0.83289 0.5222 M 0.83118 2.625 0.80722 D 1 D;P 0.89917 1.0;0.937 D;P 0.65443 0.935;0.549 D 0.85369 0.1112 10 0.87932 D 0 -0.1772 19.5905 0.95508 0.0:0.0:1.0:0.0 . 213;213 Q9Y617-2;Q9Y617 .;SERC_HUMAN H 37;213;213 ENSP00000317606:R213H;ENSP00000365773:R213H ENSP00000317606:R213H R + 2 0 PSAT1 80113217 1.000000 0.71417 0.923000 0.36655 0.975000 0.68041 9.409000 0.97331 2.638000 0.89438 0.557000 0.71058 CGT PSAT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052777.1 + ENST00000376588.3 Missense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR ENC1 8507 broad.mit.edu 37 5 73931637 73931637 + Missense_Mutation SNP C C T rs61758147 TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr5:73931637C>T ENST00000510316.1 - 2.0 1668 c.455G>A c.(454-456)cGc>cAc p.R152H ENC1_ENST00000302351.4_Missense_Mutation_p.R225H|ENC1_ENST00000537006.1_Missense_Mutation_p.R225H NM_001256576.1 NP_001243505.1 O14682 ENC1_HUMAN ectodermal-neural cortex 1 (with BTB domain) 225.0 multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567) Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) p.R225H(1) 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) 20.0 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) GTAGCAATAGCGCTTCTTCAG 0.493 1 Substitution - Missense(1) prostate(1) 87.0 85.0 86.0 5 73931637.0 2203.0 4300.0 6503.0 SO:0001583 missense AF059611 CCDS4021.1, CCDS58958.1 5q13 2013-01-30 2013-01-30 ENSG00000171617 ENSG00000171617 8507.0 8507.0 """Kelch-like"", ""BTB/POZ domain containing""" 3345.0 protein-coding gene gene with protein product """kelch-like family member 37""" 605173.0 """ectodermal-neural cortex 1 (with BTB-like domain)""" NRPB 9305847, 9566959 Standard NM_003633 NM_003633 Approved PIG10, ENC-1, TP53I10, KLHL37 uc003kdc.5 O14682 OTTHUMG00000102059 ENST00000510316.1:c.455G>A 5.__UNKNOWN__:g.73931637C>T ENSP00000423804:p.Arg152His B4DHJ1|E9PFU0|O75464|Q9UPG9 __UNKNOWN__ CCDS58958.1 . . . . . . . . . . C 26.0 4.697387 0.88830 . . ENSG00000171617 ENST00000302351;ENST00000510316;ENST00000537006 T;T;T 0.73897 -0.79;-0.79;-0.79 5.8 5.8 0.92144 BTB/Kelch-associated (2); 0.000000 0.85682 D 0.000000 D 0.89269 0.6667 M 0.91196 3.185 0.80722 D 1 D 0.76494 0.999 D 0.66602 0.945 D 0.90833 0.4718 10 0.87932 D 0 . 20.0537 0.97638 0.0:1.0:0.0:0.0 rs61758147 225 O14682 ENC1_HUMAN H 225;152;225 ENSP00000306356:R225H;ENSP00000423804:R152H;ENSP00000446289:R225H ENSP00000306356:R225H R - 2 0 ENC1 73967393 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.818000 0.86416 2.758000 0.94735 0.561000 0.74099 CGC ENC1-002 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000369004.1 - ENST00000510316.1 Missense_Mutation SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR AIF1 199 hgsc.bcm.edu 37 6 31583978 31583978 + Silent SNP G G A TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr6:31583978G>A ENST00000376059.3 + 4.0 342 AIF1_ENST00000376049.4_Intron NM_001623.3 NP_001614.3 P55008 AIF1_HUMAN allograft inflammatory factor 1 actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cellular response to interferon-gamma (GO:0071346)|inflammatory response (GO:0006954)|microglial cell activation (GO:0001774)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell proliferation (GO:0048662)|phagocytosis, engulfment (GO:0006911)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|Rac protein signal transduction (GO:0016601)|ruffle assembly (GO:0097178) actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|ruffle membrane (GO:0032587) actin filament binding (GO:0051015)|calcium ion binding (GO:0005509) lung(2)|ovary(1) 3.0 AGAAGACAGAGGTCTCTCCTA 0.532 Ovarian(23;358 734 36938 38933 52312) 0 SO:0001627 intron_variant U19713 CCDS4706.1, CCDS34398.1 6p21.3 2013-01-10 ENSG00000204472 ENSG00000204472 199.0 199.0 """EF-hand domain containing""" 352.0 protein-coding gene gene with protein product """interferon gamma responsive transcript"", ""ionized calcium-binding adapter molecule 1""" 601833 8912632 Standard NM_032955 Approved IRT-1, AIF-1, Em:AF129756.17, IBA1 uc003nuy.3 P55008 OTTHUMG00000031246 ENST00000376059.3:c.196+56G>A 6.__UNKNOWN__:g.31583978G>A A8K406|O43904|Q9UIV4|Q9UKS9 __UNKNOWN__ CCDS4706.1 AIF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076512.3 + ENST00000376059.3 Intron SNP PCPG-TCGA-P8-A6RX-Normal-SM-5EQFR HMGA2 8091 broad.mit.edu 37 12 66221789 66221789 + Silent SNP C C T TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr12:66221789C>T ENST00000541363.1 + 2.0 493 c.120C>T c.(118-120)acC>acT p.T40T HMGA2_ENST00000536545.1_Silent_p.T40T|HMGA2_ENST00000393577.3_Silent_p.T40T|HMGA2_ENST00000403681.2_Silent_p.T40T|HMGA2_ENST00000425208.2_Silent_p.T40T|HMGA2_ENST00000393578.3_Silent_p.T40T|HMGA2_ENST00000354636.3_Silent_p.T40T P52926 HMGA2_HUMAN high mobility group AT-hook 2 40.0 adrenal gland development (GO:0030325)|base-excision repair (GO:0006284)|cell proliferation in forebrain (GO:0021846)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|chromatin organization (GO:0006325)|chromosome breakage (GO:0031052)|chromosome condensation (GO:0030261)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA damage response, detection of DNA damage (GO:0042769)|endodermal cell differentiation (GO:0035987)|epithelial to mesenchymal transition (GO:0001837)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|heterochromatin assembly (GO:0031507)|histone H2A-S139 phosphorylation (GO:0035978)|male gonad development (GO:0008584)|mesenchymal cell differentiation (GO:0048762)|mesodermal cell differentiation (GO:0048333)|mesodermal-endodermal cell signaling (GO:0003131)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of DNA binding (GO:0043392)|negative regulation of double-strand break repair via nonhomologous end joining (GO:2001033)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|oncogene-induced cell senescence (GO:0090402)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cellular response to X-ray (GO:2000685)|positive regulation of cellular senescence (GO:2000774)|positive regulation of gene expression (GO:0010628)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle process (GO:0010564)|regulation of cellular response to drug (GO:2001038)|regulation of growth hormone secretion (GO:0060123)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|signal transduction (GO:0007165)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863) nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|senescence-associated heterochromatin focus (GO:0035985)|SMAD protein complex (GO:0071141) 5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|C2H2 zinc finger domain binding (GO:0070742)|cAMP response element binding (GO:0035497)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|DNA-dependent protein kinase activity (GO:0004677)|MH1 domain binding (GO:0035501)|MH2 domain binding (GO:0035500)|nucleosomal DNA binding (GO:0031492)|regulatory region DNA binding (GO:0000975)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134) HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2) lung(2) 2.0 all_cancers(1;5.78e-46) GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156) GBM - Glioblastoma multiforme(28;0.0386) AGGAACCAACCGGTGAGCCCT 0.448 T """ LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT""" """lipoma, leiomyoma, pleiomorphic salivary gland adenoma""" Dom yes 12 12q15 8091.0 high mobility group AT-hook 2 (HMGIC) M 0 79.0 86.0 83.0 12 66221789.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U28754 CCDS31854.1, CCDS44936.1, CCDS73491.1, CCDS73492.1 12q15 2011-07-01 2002-07-25 2002-07-26 ENSG00000149948 ENSG00000149948 8091.0 8091.0 """High-mobility group / Canonical""" 5009.0 protein-coding gene gene with protein product 600698.0 """high-mobility group (nonhistone chromosomal) protein isoform I-C""" HMGIC 8824803, 9003504 Standard NM_003483 XM_006719620 Approved BABL, LIPO uc001ssx.3 P52926 OTTHUMG00000168936 ENST00000541363.1:c.120C>T 12.__UNKNOWN__:g.66221789C>T E7EP85|E7EWA2|Q1M182|Q1M185|Q1M186|Q1M187|Q1M188 __UNKNOWN__ HMGA2-011 PUTATIVE basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000401662.1 + ENST00000541363.1 Silent SNP PCPG-TCGA-P8-A6RY-Normal-SM-5EQF3 OR6K3 391114 broad.mit.edu 37 1 158687537 158687537 + Silent SNP G G A TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr1:158687537G>A ENST00000368145.1 - 1.0 368 c.369C>T c.(367-369)taC>taT p.Y123Y OR6K3_ENST00000368146.1_Silent_p.Y139Y NM_001005327.2 NP_001005327.2 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 139.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41.0 all_hematologic(112;0.0378) AGATGGCAACGTATCTGTCAA 0.507 0 G 0,4406 0,0,2203 113.0 119.0 117.0 369 -2.9 0.0 1 117.0 2,8598 2.2+/-6.3 0,2,4298 no coding-synonymous OR6K3 NM_001005327.2 0,2,6501 AA,AG,GG 0.0233,0.0,0.0154 123/316 158687537.0 2,13004 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB065633 CCDS30903.1, CCDS30903.2 1q23.1 2012-08-09 ENSG00000203757 ENSG00000203757 391114.0 391114.0 """GPCR / Class A : Olfactory receptors""" 15030.0 protein-coding gene gene with protein product Standard NM_001005327 Approved uc021pbn.1 Q8NGY3 OTTHUMG00000022770 ENST00000368145.1:c.369C>T 1.__UNKNOWN__:g.158687537G>A Q5VUV0|Q6IFR5 __UNKNOWN__ CCDS30903.2 OR6K3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000059063.1 - ENST00000368145.1 Silent SNP PCPG-TCGA-P8-A6RY-Normal-SM-5EQF3 ELANE 1991 broad.mit.edu 37 19 853364 853364 + Silent SNP C C T TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr19:853364C>T ENST00000590230.1 + 4.0 468 c.327C>T c.(325-327)taC>taT p.Y109Y ELANE_ENST00000263621.1_Silent_p.Y109Y P08246 ELNE_HUMAN elastase, neutrophil expressed 109.0 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053) cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1) 13.0 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) AAAACGGCTACGACCCCGTAA 0.706 0 24.0 23.0 23.0 19 853364.0 2184.0 4277.0 6461.0 SO:0001819 synonymous_variant CCDS12045.1 19p13.3 2014-09-17 2009-05-05 2009-05-05 ENSG00000197561 ENSG00000197561 1991.0 1991.0 3.4.21.37 3309.0 protein-coding gene gene with protein product """neutrophil elastase"", ""leukocyte elastase"", ""medullasin""" 130130.0 """elastase 2, neutrophil""" ELA2 2902087 Standard NM_001972 XM_005259517 Approved NE, HNE, HLE uc002lqb.3 P08246 ENST00000590230.1:c.327C>T 19.__UNKNOWN__:g.853364C>T P09649|Q6B0D9|Q6LDP5 __UNKNOWN__ CCDS12045.1 ELANE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457890.2 + ENST00000590230.1 Silent SNP PCPG-TCGA-P8-A6RY-Normal-SM-5EQF3 DOCK5 80005 broad.mit.edu 37 8 25193836 25193836 + Silent SNP A A G TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr8:25193836A>G ENST00000276440.7 + 22.0 2318 c.2274A>G c.(2272-2274)aaA>aaG p.K758K NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 758.0 positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737) guanyl-nucleotide exchange factor activity (GO:0005085) 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) 72.0 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) CTGCGTTGAAAGCCTTGAAGT 0.408 Pancreas(145;34 1887 3271 10937 30165) 0 122.0 109.0 113.0 8 25193836.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS6047.1 8p21.2 2009-04-17 ENSG00000147459 ENSG00000147459 80005.0 80005.0 23476.0 protein-coding gene gene with protein product 12432077 Standard NM_024940 NM_024940 Approved FLJ21034 uc003xeg.3 Q9H7D0 OTTHUMG00000131991 ENST00000276440.7:c.2274A>G 8.__UNKNOWN__:g.25193836A>G B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6 __UNKNOWN__ CCDS6047.1 . . . . . . . . . . A 9.811 1.183107 0.21870 . . ENSG00000147459 ENST00000444569 . . . 5.76 5.76 0.90799 . . . . . T 0.64483 0.2602 . . . 0.80722 D 1 . . . . . . T 0.63368 -0.6653 4 . . . . 12.1873 0.54247 0.9317:0.0:0.0683:0.0 . . . . G 530 . . S + 1 0 DOCK5 25249753 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 3.794000 0.55492 2.322000 0.78497 0.528000 0.53228 AGC DOCK5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254955.2 + ENST00000276440.7 Silent SNP PCPG-TCGA-P8-A6RY-Normal-SM-5EQF3 OPA3 80207 broad.mit.edu 37 19 46032458 46032458 + Silent SNP G G A TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr19:46032458G>A ENST00000323060.3 - 2.0 476 c.399C>T c.(397-399)ctC>ctT p.L133L NM_001017989.2 NP_001017989.2 Q9H6K4 OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 133.0 growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601) mitochondrion (GO:0005739) cervix(1)|large_intestine(1)|lung(2) 4.0 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) GCAACTCCTCGAGCGCCAGCC 0.697 0 18.0 19.0 19.0 19 46032458.0 2194.0 4285.0 6479.0 SO:0001819 synonymous_variant AK025840 CCDS12668.1, CCDS33052.1 19q13.2-q13.3 2014-01-28 ENSG00000125741 80207.0 80207.0 8142.0 protein-coding gene gene with protein product 606580.0 9097959, 11668429 Standard NM_001017989 Approved FLJ22187, MGA3 uc002pcj.4 Q9H6K4 ENST00000323060.3:c.399C>T 19.__UNKNOWN__:g.46032458G>A Q6P384|Q8N784 __UNKNOWN__ CCDS33052.1 OPA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459600.1 - ENST00000323060.3 Silent SNP PCPG-TCGA-P8-A6RY-Normal-SM-5EQF3 FAM221B 392307 broad.mit.edu 37 9 35819971 35819971 + Missense_Mutation SNP G G T TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr9:35819971G>T ENST00000423537.2 - 4.0 1038 c.769C>A c.(769-771)Cat>Aat p.H257N TMEM8B_ENST00000377996.1_Intron NM_001012446.3 NP_001012448.2 A6H8Z2 F221B_HUMAN family with sequence similarity 221, member B 257.0 endometrium(2)|kidney(1)|lung(4) 7.0 CATAGGTAATGGGGGCAGCGC 0.483 0 59.0 60.0 60.0 9 35819971.0 1895.0 4120.0 6015.0 SO:0001583 missense BX648702 CCDS43799.1, CCDS43799.2 9p13.3 2012-04-02 2012-04-02 2012-04-02 ENSG00000204930 ENSG00000204930 392307.0 392307.0 30762.0 protein-coding gene gene with protein product """chromosome 9 open reading frame 128""" C9orf128 Standard NM_001012446 NM_001012446 Approved uc010mlc.2 A6H8Z2 OTTHUMG00000019880 ENST00000423537.2:c.769C>A 9.__UNKNOWN__:g.35819971G>T ENSP00000415299:p.His257Asn Q5TCW2 __UNKNOWN__ CCDS43799.2 . . . . . . . . . . G 17.97 3.517348 0.64634 . . ENSG00000204930 ENST00000423537;ENST00000377984 T;T 0.15952 2.38;2.38 5.46 5.46 0.80206 . . . . . T 0.23410 0.0566 M 0.62723 1.935 0.27859 N 0.940476 P 0.48694 0.914 B 0.42692 0.395 T 0.11591 -1.0581 9 0.42905 T 0.14 -7.2817 14.8065 0.69959 0.0:0.0:1.0:0.0 . 257 A6H8Z2 CI128_HUMAN N 257 ENSP00000415299:H257N;ENSP00000367222:H257N ENSP00000367222:H257N H - 1 0 C9orf128 35809971 1.000000 0.71417 0.998000 0.56505 0.981000 0.71138 3.964000 0.56780 2.552000 0.86080 0.655000 0.94253 CAT FAM221B-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355861.1 - ENST00000423537.2 Missense_Mutation SNP PCPG-TCGA-P8-A6RY-Normal-SM-5EQF3 LONP1 9361 broad.mit.edu 37 19 5692054 5692054 + Missense_Mutation SNP C C A TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr19:5692054C>A ENST00000360614.3 - 18.0 3026 c.2869G>T c.(2869-2871)Gtg>Ttg p.V957L LONP1_ENST00000590729.1_Missense_Mutation_p.V827L|LONP1_ENST00000593119.1_Missense_Mutation_p.V893L|LONP1_ENST00000585374.1_Missense_Mutation_p.V843L|LONP1_ENST00000540670.2_Missense_Mutation_p.V761L NM_004793.2 NP_004784.2 lon peptidase 1, mitochondrial breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24.0 CACCGTTCCACGGCCAGCGCC 0.687 0 74.0 65.0 68.0 19 5692054.0 2203.0 4300.0 6503.0 SO:0001583 missense U02389 CCDS12148.1, CCDS62507.1, CCDS62508.1 19p13.2 2014-01-28 2006-10-20 2006-10-20 ENSG00000196365 ENSG00000196365 9361.0 9361.0 """ATPases / AAA-type"", ""Serine peptidases / Serine peptidases""" 9479.0 protein-coding gene gene with protein product 605490.0 """protease, serine, 15""" PRSS15 8248235, 8119403 Standard NM_004793 NM_004793 Approved LonHS, hLON, PIM1 uc002mcx.4 P36776 ENST00000360614.3:c.2869G>T 19.__UNKNOWN__:g.5692054C>A ENSP00000353826:p.Val957Leu __UNKNOWN__ CCDS12148.1 . . . . . . . . . . C 12.35 1.913110 0.33815 . . ENSG00000196365 ENST00000360614;ENST00000358403;ENST00000540670 T;T 0.21932 2.28;1.98 3.9 3.9 0.45041 . 0.471044 0.18565 N 0.137488 T 0.17066 0.0410 L 0.36672 1.1 0.29103 N 0.881388 B;B;B 0.06786 0.001;0.001;0.001 B;B;B 0.06405 0.002;0.002;0.002 T 0.05920 -1.0856 10 0.40728 T 0.16 -32.6668 11.322 0.49428 0.0:1.0:0.0:0.0 . 957;893;957 E5KMH8;Q8N8K8;P36776 .;.;LONM_HUMAN L 957;921;761 ENSP00000353826:V957L;ENSP00000441523:V761L ENSP00000351177:V921L V - 1 0 LONP1 5643054 0.015000 0.18098 0.867000 0.34043 0.286000 0.27126 0.089000 0.15002 1.999000 0.58509 0.456000 0.33151 GTG LONP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451662.1 - ENST00000360614.3 Missense_Mutation SNP PCPG-TCGA-P8-A6RY-Normal-SM-5EQF3 KANK3 256949 broad.mit.edu 37 19 8399294 8399294 + Missense_Mutation SNP T T C TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr19:8399294T>C ENST00000330915.3 - 4.0 1402 c.1337A>G c.(1336-1338)aAa>aGa p.K446R KANK3_ENST00000593649.1_Missense_Mutation_p.K446R NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 446.0 breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9.0 CATGATGGATTTGAGGATGCC 0.647 0 56.0 55.0 55.0 19 8399294.0 2203.0 4300.0 6503.0 SO:0001583 missense AK128815 CCDS12199.1 19p13.2 2013-01-10 2008-01-29 2008-01-29 ENSG00000186994 256949.0 256949.0 """KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing""" 24796.0 protein-coding gene gene with protein product 614611.0 """ankyrin repeat domain 47""" ANKRD47 17996375, 19554261 Standard NM_198471 NM_198471 Approved FLJ46061 uc010dwa.3 Q6NY19 ENST00000330915.3:c.1337A>G 19.__UNKNOWN__:g.8399294T>C ENSP00000328923:p.Lys446Arg Q6NZI1|Q6ZQR3|Q8IUV2 __UNKNOWN__ CCDS12199.1 . . . . . . . . . . T 17.79 3.475930 0.63737 . . ENSG00000186994 ENST00000330915 T 0.34667 1.35 4.62 2.39 0.29439 . . . . . T 0.30355 0.0762 L 0.45285 1.41 0.31171 N 0.703181 B 0.28178 0.202 B 0.33121 0.158 T 0.33523 -0.9865 9 0.45353 T 0.12 -30.3095 6.7395 0.23428 0.0:0.2219:0.0:0.7781 . 446 Q6NY19-2 . R 446 ENSP00000328923:K446R ENSP00000328923:K446R K - 2 0 KANK3 8305294 1.000000 0.71417 1.000000 0.80357 0.916000 0.54674 4.727000 0.61993 0.786000 0.33708 0.260000 0.18958 AAA KANK3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000461378.1 - ENST00000330915.3 Missense_Mutation SNP PCPG-TCGA-P8-A6RY-Normal-SM-5EQF3 ARHGAP22 58504 broad.mit.edu 37 10 49667823 49667823 + Missense_Mutation SNP A A T TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr10:49667823A>T ENST00000435790.2 - 5.0 911 c.581T>A c.(580-582)cTc>cAc p.L194H ARHGAP22_ENST00000249601.4_Missense_Mutation_p.L188H|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.L204H|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.L79H|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.L98H|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.L98H NM_001256025.2 NP_001242954.1 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 188.0 Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}. angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351) cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634) GTPase activator activity (GO:0005096) endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18.0 CTCCTCAGTGAGCCCGCGCTC 0.642 0 108.0 100.0 102.0 10 49667823.0 2203.0 4300.0 6503.0 SO:0001583 missense AY324801 CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1 10q11.23 2013-01-10 ENSG00000128805 ENSG00000128805 58504.0 58504.0 """Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing""" 30320.0 protein-coding gene gene with protein product 610585.0 8619474 Standard NM_021226 NM_021226 Approved RhoGAP2 uc010qgm.3 Q7Z5H3 OTTHUMG00000018176 ENST00000435790.2:c.581T>A 10.__UNKNOWN__:g.49667823A>T ENSP00000416701:p.Leu194His A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0 __UNKNOWN__ CCDS58081.1 . . . . . . . . . . A 22.7 4.322550 0.81580 . . ENSG00000128805 ENST00000249601;ENST00000374172;ENST00000374170;ENST00000417247;ENST00000435790;ENST00000417912 T;T;T;T;T;T 0.28255 1.62;1.62;1.62;1.62;1.62;1.62 4.9 4.9 0.64082 Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1); 0.074399 0.56097 D 0.000031 T 0.67534 0.2903 H 0.96365 3.81 0.80722 D 1 D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0 D;D;D;D;D 0.97110 0.997;1.0;0.999;1.0;0.995 T 0.78892 -0.2025 10 0.87932 D 0 . 13.8597 0.63552 1.0:0.0:0.0:0.0 . 194;188;204;188;98 B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3 .;.;.;RHG22_HUMAN;. H 188;79;98;98;194;204 ENSP00000249601:L188H;ENSP00000363287:L79H;ENSP00000363285:L98H;ENSP00000410054:L98H;ENSP00000416701:L194H;ENSP00000412461:L204H ENSP00000249601:L188H L - 2 0 ARHGAP22 49337829 1.000000 0.71417 0.944000 0.38274 0.667000 0.39255 9.033000 0.93741 2.074000 0.62210 0.260000 0.18958 CTC ARHGAP22-004 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000358761.2 - ENST00000435790.2 Missense_Mutation SNP PCPG-TCGA-P8-A6RY-Normal-SM-5EQF3 KCNU1 157855 bcgsc.ca 37 8 36768480 36768480 + Silent SNP G G A TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr8:36768480G>A ENST00000399881.3 + 22.0 2401 c.2364G>A c.(2362-2364)gcG>gcA p.A788A NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 788.0 multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036) plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57.0 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ACCTCCATGCGGCCAACATAG 0.527 0 100.0 104.0 103.0 8 36768480.0 1991.0 4171.0 6162.0 SO:0001819 synonymous_variant BC028701 CCDS55220.1 8p11.2 2012-07-05 ENSG00000215262 157855.0 157855.0 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated""" 18867.0 protein-coding gene gene with protein product 615215 16382103 Standard NM_001031836 NM_001031836 Approved KCa5.1, Slo3, KCNMC1, Kcnma3 uc010lvw.3 A8MYU2 ENST00000399881.3:c.2364G>A 8.__UNKNOWN__:g.36768480G>A __UNKNOWN__ CCDS55220.1 KCNU1-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000376631.1 + ENST00000399881.3 Silent SNP PCPG-TCGA-P8-A6RY-Normal-SM-5EQF3 Unknown 100289259 bcgsc.ca 37 X 136743697 136743697 + RNA SNP T T C TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chrX:136743697T>C RN7SL325P (65987 upstream) : RNU6-985P (26352 downstream) TGTGTGAAGCTATCAGACCCA 0.448 0 SO:0001628 intergenic_variant X.__UNKNOWN__:g.136743697T>C __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-P8-A6RY-Normal-SM-5EQF3 RUFY3 22902 broad.mit.edu 37 4 71634293 71634293 + Missense_Mutation SNP A A G TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr4:71634293A>G ENST00000381006.3 + 5.0 1190 c.611A>G c.(610-612)gAa>gGa p.E204G RUFY3_ENST00000502653.1_Missense_Mutation_p.E151G|RUFY3_ENST00000417478.2_Missense_Mutation_p.E264G|RUFY3_ENST00000226328.4_Missense_Mutation_p.E204G|RUFY3_ENST00000536664.1_Missense_Mutation_p.E188G NM_001037442.2 NP_001032519.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 204.0 RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}. negative regulation of axonogenesis (GO:0050771) filopodium (GO:0030175)|growth cone (GO:0030426) endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16.0 all_hematologic(202;0.248) Lung(101;0.235) ATGGAAGAAGAAGGAGCCATA 0.413 0 187.0 178.0 181.0 4 71634293.0 2203.0 4300.0 6503.0 SO:0001583 missense AF112221 CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1 4q13.3 2009-05-29 ENSG00000018189 ENSG00000018189 22902.0 22902.0 """Zinc fingers, FYVE domain containing""" 30285.0 protein-coding gene gene with protein product """single axon-related 1""" 611194.0 17439943 Standard NM_014961 NM_001130709 Approved RIPx, KIAA0871, Singar1 uc003hfr.3 Q7L099 OTTHUMG00000129910 ENST00000381006.3:c.611A>G 4.__UNKNOWN__:g.71634293A>G ENSP00000370394:p.Glu204Gly B3KM25|B4DYW7|D9N163|O94948|Q9UI00 __UNKNOWN__ CCDS34001.1 . . . . . . . . . . A 31 5.060374 0.93846 . . ENSG00000018189 ENST00000503876;ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653 T;T;T;T;T;T;T 0.15603 2.41;2.41;2.41;2.41;2.41;2.41;2.41 5.29 5.29 0.74685 RUN (3); 0.000000 0.85682 D 0.000000 T 0.51075 0.1653 M 0.91717 3.235 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 1.0;0.999;0.998;1.0 T 0.63382 -0.6650 10 0.87932 D 0 -22.2098 15.2276 0.73361 1.0:0.0:0.0:0.0 . 188;204;204;264 B4DKC2;Q7L099-3;Q7L099;Q7L099-2 .;.;RUFY3_HUMAN;. G 140;264;204;204;188;140;151 ENSP00000426734:E140G;ENSP00000399771:E264G;ENSP00000370394:E204G;ENSP00000226328:E204G;ENSP00000443652:E188G;ENSP00000425574:E140G;ENSP00000425400:E151G ENSP00000226328:E204G E + 2 0 RUFY3 71853157 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 9.142000 0.94618 2.007000 0.58848 0.455000 0.32223 GAA RUFY3-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000252162.1 + ENST00000381006.3 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG TBC1D10B 26000 broad.mit.edu 37 16 30369824 30369824 + Missense_Mutation SNP T T C TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr16:30369824T>C ENST00000409939.3 - 9.0 1948 c.1868A>G c.(1867-1869)gAa>gGa p.E623G NM_015527.3 NP_056342.3 Q4KMP7 TB10B_HUMAN TBC1 domain family, member 10B 623.0 positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) Rab GTPase activator activity (GO:0005097) endometrium(2)|kidney(1)|lung(2)|urinary_tract(1) 6.0 Colorectal(24;0.193) CCCCCGCGTTTCCCGCCACTT 0.647 0 24.0 24.0 24.0 16 30369824.0 2197.0 4298.0 6495.0 SO:0001583 missense BC063112 CCDS10676.2 16p11.2 2013-07-09 ENSG00000169221 ENSG00000169221 26000.0 26000.0 24510.0 protein-coding gene gene with protein product 613620.0 20404108 Standard NM_015527 NM_015527 Approved DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B uc002dxt.3 Q4KMP7 OTTHUMG00000132396 ENST00000409939.3:c.1868A>G 16.__UNKNOWN__:g.30369824T>C ENSP00000386538:p.Glu623Gly B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2 __UNKNOWN__ CCDS10676.2 . . . . . . . . . . T 23.2 4.387904 0.82902 . . ENSG00000169221 ENST00000409939 D 0.97161 -4.27 4.62 4.62 0.57501 . 0.000000 0.85682 D 0.000000 D 0.97259 0.9104 M 0.65498 2.005 0.58432 D 0.999993 D 0.53312 0.959 P 0.55011 0.766 D 0.97677 1.0170 10 0.87932 D 0 . 13.4141 0.60958 0.0:0.0:0.0:1.0 . 623 Q4KMP7 TB10B_HUMAN G 623 ENSP00000386538:E623G ENSP00000386538:E623G E - 2 0 TBC1D10B 30277325 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 7.781000 0.85668 2.067000 0.61834 0.402000 0.26972 GAA TBC1D10B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255527.3 - ENST00000409939.3 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG EYS 346007 broad.mit.edu 37 6 66204999 66204999 + Missense_Mutation SNP T T A TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr6:66204999T>A ENST00000393380.2 - 4.0 842 c.305A>T c.(304-306)aAt>aTt p.N102I EYS_ENST00000370618.3_Missense_Mutation_p.N102I|EYS_ENST00000342421.5_Missense_Mutation_p.N102I|EYS_ENST00000503581.1_Missense_Mutation_p.N102I|EYS_ENST00000370616.2_Missense_Mutation_p.N102I|EYS_ENST00000370621.3_Missense_Mutation_p.N102I NM_001142801.1 NP_001136273.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 102.0 detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403) extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509) 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) 69.0 ATTCATCAAATTTATTTCTGG 0.378 0 69.0 71.0 70.0 6 66204999.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS4967.1, CCDS47445.1, CCDS47446.1 6q12 2014-01-28 2008-10-20 2008-10-20 ENSG00000188107 ENSG00000188107 346007.0 346007.0 21555.0 protein-coding gene gene with protein product 612424.0 """chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179""" C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179 18836446, 18976725 Standard XM_294050 NM_001142800 Approved dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1 uc011dxu.1 Q5T1H1 OTTHUMG00000014971 ENST00000393380.2:c.305A>T 6.__UNKNOWN__:g.66204999T>A ENSP00000377042:p.Asn102Ile A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15 __UNKNOWN__ CCDS47446.1 . . . . . . . . . . T 17.22 3.333226 0.60853 . . ENSG00000188107 ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618 D;D;D;D;D;D 0.90324 -1.66;-1.65;-1.65;-2.65;-2.61;-2.61 4.4 4.4 0.53042 . . . . . D 0.86079 0.5847 N 0.19112 0.55 0.22171 N 0.999314 D;D;D 0.71674 0.998;0.998;0.997 D;D;D 0.70935 0.962;0.971;0.936 T 0.79176 -0.1911 9 0.34782 T 0.22 . 11.3055 0.49332 0.0:0.0:0.0:1.0 . 102;102;102 Q5T1H1-1;Q5T1H1-2;Q5SZM4 .;.;. I 102 ENSP00000424243:N102I;ENSP00000359655:N102I;ENSP00000359650:N102I;ENSP00000377042:N102I;ENSP00000341818:N102I;ENSP00000359652:N102I ENSP00000341818:N102I N - 2 0 EYS 66261720 0.998000 0.40836 0.994000 0.49952 0.935000 0.57460 3.147000 0.50639 1.735000 0.51646 0.482000 0.46254 AAT EYS-006 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000041109.2 - ENST00000393380.2 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG RALGAPB 57148 broad.mit.edu 37 20 37179720 37179720 + Missense_Mutation SNP G G A TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr20:37179720G>A ENST00000397042.3 + 21.0 3288 c.3004G>A c.(3004-3006)Gta>Ata p.V1002I RALGAPB_ENST00000397040.1_Missense_Mutation_p.V1006I|RALGAPB_ENST00000397038.1_Missense_Mutation_p.V784I|RALGAPB_ENST00000262879.6_Missense_Mutation_p.V1006I NM_001282918.1 NP_001269847.1 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 1006.0 activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178) protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123) 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) 65.0 ACAGCTTTTTGTACCTGAACC 0.388 0 156.0 143.0 147.0 20 37179720.0 2203.0 4300.0 6503.0 SO:0001583 missense AB033045 CCDS13305.1, CCDS63272.1 20q11.23 2009-09-09 2009-09-09 2009-09-09 ENSG00000170471 ENSG00000170471 57148.0 57148.0 29221.0 protein-coding gene gene with protein product """KIAA1219""" KIAA1219 19520869 Standard NM_020336 XM_005260462 Approved DKFZp781M2411, RalGAPbeta uc002xiw.3 Q86X10 OTTHUMG00000140270 ENST00000397042.3:c.3004G>A 20.__UNKNOWN__:g.37179720G>A ENSP00000380235:p.Val1002Ile A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9 __UNKNOWN__ . . . . . . . . . . G 14.06 2.422379 0.43020 . . ENSG00000170471 ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490 . . . 6.03 5.03 0.67393 . 0.114674 0.64402 D 0.000015 T 0.37348 0.1000 N 0.16478 0.41 0.80722 D 1 B;B 0.02656 0.0;0.0 B;B 0.06405 0.002;0.002 T 0.17806 -1.0357 9 0.17832 T 0.49 . 10.2025 0.43094 0.0701:0.1372:0.7926:0.0 . 1002;1006 A2A2E9;Q86X10 .;RLGPB_HUMAN I 1006;1002;784;1006;834 . ENSP00000262879:V1006I V + 1 0 RALGAPB 36613134 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 4.021000 0.57196 2.868000 0.98415 0.557000 0.71058 GTA RALGAPB-005 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000079195.1 + ENST00000397042.3 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG ZBTB47 92999 broad.mit.edu 37 3 42703080 42703080 + Missense_Mutation SNP A A G TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr3:42703080A>G ENST00000232974.6 + 3.0 1858 c.1577A>G c.(1576-1578)gAg>gGg p.E526G ZBTB47_ENST00000505904.1_Missense_Mutation_p.E72G|ZBTB47_ENST00000457842.3_Missense_Mutation_p.E150G Q9UFB7 ZBT47_HUMAN zinc finger and BTB domain containing 47 526.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1) 13.0 KIRC - Kidney renal clear cell carcinoma(284;0.216) GAGATCTGTGAGAAGAAGTTC 0.517 0 71.0 70.0 70.0 3 42703080.0 2002.0 4191.0 6193.0 SO:0001583 missense AB033016 CCDS46805.1, CCDS46805.2 3p22.1 2013-01-08 2006-09-19 2006-09-19 ENSG00000114853 ENSG00000114853 92999.0 92999.0 """-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing""" 26955.0 protein-coding gene gene with protein product """zinc finger protein 651""" ZNF651 10574461 Standard NM_145166 NM_145166 Approved KIAA1190, DKFZp434N0615 uc003clu.2 Q9UFB7 OTTHUMG00000156207 ENST00000232974.6:c.1577A>G 3.__UNKNOWN__:g.42703080A>G ENSP00000232974:p.Glu526Gly H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0 __UNKNOWN__ CCDS46805.2 . . . . . . . . . . A 13.78 2.339701 0.41398 . . ENSG00000114853 ENST00000232974;ENST00000542870;ENST00000457842;ENST00000505904 T;T;T 0.08008 3.14;3.14;3.14 4.84 3.68 0.42216 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.85682 D 0.000000 T 0.02193 0.0068 N 0.00864 -1.135 0.53005 D 0.999962 B 0.21071 0.051 B 0.21360 0.034 T 0.40590 -0.9555 10 0.02654 T 1 -38.2771 10.2645 0.43447 0.9213:0.0:0.0787:0.0 . 150 Q9UFB7 ZBT47_HUMAN G 526;425;150;72 ENSP00000232974:E526G;ENSP00000411491:E150G;ENSP00000420968:E72G ENSP00000232974:E526G E + 2 0 ZBTB47 42678084 1.000000 0.71417 0.997000 0.53966 0.992000 0.81027 7.501000 0.81600 0.701000 0.31803 0.459000 0.35465 GAG ZBTB47-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000343485.3 + ENST00000232974.6 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG PPP1R14D 54866 broad.mit.edu 37 15 41120792 41120792 + Silent SNP C C A TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr15:41120792C>A ENST00000299174.5 - 1.0 115 c.48G>T c.(46-48)ggG>ggT p.G16G PPP1R14D_ENST00000427255.2_Silent_p.G16G NM_017726.7 NP_060196.1 Q9NXH3 PP14D_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14D 16.0 regulation of phosphorylation (GO:0042325) cytoplasm (GO:0005737) protein phosphatase inhibitor activity (GO:0004864) breast(1)|large_intestine(2)|lung(2)|skin(1) 6.0 all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) ATGGGTTCTCCCCATCTGGGC 0.557 0 102.0 88.0 93.0 15 41120792.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK000258 CCDS10066.1, CCDS45230.1 15q11.2-q14 2012-04-17 ENSG00000166143 ENSG00000166143 54866.0 54866.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 14953.0 protein-coding gene gene with protein product """gut and brain phosphatase inhibitor 1"", ""PKC-dependent PP1 inhibitory protein""" 613256.0 11948623 Standard NM_017726 NM_017726 Approved CPI17-like, FLJ20251, GBPI-1, MGC119014, MGC119016 uc001zmz.3 Q9NXH3 OTTHUMG00000130064 ENST00000299174.5:c.48G>T 15.__UNKNOWN__:g.41120792C>A Q4V773 __UNKNOWN__ CCDS10066.1 PPP1R14D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252355.2 - ENST00000299174.5 Silent SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG MINK1 50488 broad.mit.edu 37 17 4788820 4788820 + Missense_Mutation SNP G G A TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr17:4788820G>A ENST00000355280.6 + 7.0 747 c.551G>A c.(550-552)aGa>aAa p.R184K MINK1_ENST00000453408.3_Missense_Mutation_p.R184K|MINK1_ENST00000347992.7_Missense_Mutation_p.R184K NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 misshapen-like kinase 1 central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6.0 ACCGTGGGCAGACGGAACACT 0.567 0 109.0 115.0 113.0 17 4788820.0 2109.0 4217.0 6326.0 SO:0001583 missense AY775058 CCDS45588.1, CCDS45589.1, CCDS45590.1 17p13.2 2011-04-14 2010-06-24 ENSG00000141503 ENSG00000141503 50488.0 50488.0 17565.0 protein-coding gene gene with protein product """misshapen/NIK-related kinase""" 609426.0 """misshapen-like kinase 1 (zebrafish)""" 10708748, 12087176 Standard NM_015716 NM_015716 Approved B55, MINK, ZC3, MAP4K6, YSK2 uc010vsl.2 Q8N4C8 ENST00000355280.6:c.551G>A 17.__UNKNOWN__:g.4788820G>A ENSP00000347427:p.Arg184Lys __UNKNOWN__ CCDS45588.1 . . . . . . . . . . G 27.9 4.873889 0.91664 . . ENSG00000141503 ENST00000355280;ENST00000453408;ENST00000347992 T;T;T 0.64438 -0.1;-0.1;-0.1 5.54 5.54 0.83059 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.46658 0.1404 N 0.02751 -0.505 0.80722 D 1 P;P;P;P 0.42010 0.726;0.726;0.768;0.726 B;B;P;B 0.44860 0.332;0.332;0.462;0.332 T 0.60182 -0.7313 10 0.87932 D 0 . 17.0271 0.86450 0.0:0.0:1.0:0.0 . 184;184;184;184 Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3 .;.;MINK1_HUMAN;. K 184 ENSP00000347427:R184K;ENSP00000406487:R184K;ENSP00000269296:R184K ENSP00000269296:R184K R + 2 0 MINK1 4729603 1.000000 0.71417 0.999000 0.59377 0.987000 0.75469 9.657000 0.98554 2.884000 0.98904 0.655000 0.94253 AGA MINK1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000439801.1 + ENST00000355280.6 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG FAM49A 81553 broad.mit.edu 37 2 16734239 16734239 + Missense_Mutation SNP A A G TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr2:16734239A>G ENST00000381323.3 - 12.0 1157 c.937T>C c.(937-939)Tca>Cca p.S313P FAM49A_ENST00000355549.2_Missense_Mutation_p.S313P|FAM49A_ENST00000406434.1_Missense_Mutation_p.S313P NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 313.0 intracellular (GO:0005622) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23.0 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) TTGGAAGTTGATTCATCGTTC 0.418 0 226.0 198.0 208.0 2 16734239.0 2203.0 4300.0 6503.0 SO:0001583 missense AK001942 CCDS1688.1 2p24.3 2008-02-05 ENSG00000197872 ENSG00000197872 81553.0 81553.0 25373.0 protein-coding gene gene with protein product Standard NM_030797 NM_030797 Approved DKFZP566A1524, FLJ11080 uc002rck.2 Q9H0Q0 OTTHUMG00000090615 ENST00000381323.3:c.937T>C 2.__UNKNOWN__:g.16734239A>G ENSP00000370724:p.Ser313Pro B3KNZ1|Q53QW2 __UNKNOWN__ CCDS1688.1 . . . . . . . . . . A 24.6 4.544072 0.86022 . . ENSG00000197872 ENST00000381323;ENST00000406434;ENST00000355549 T;T;T 0.46819 0.86;0.86;0.86 5.66 4.48 0.54585 . 0.052589 0.85682 D 0.000000 T 0.65780 0.2724 M 0.77103 2.36 0.80722 D 1 P 0.50943 0.94 D 0.63192 0.912 T 0.68689 -0.5342 10 0.72032 D 0.01 -6.0669 11.4965 0.50410 0.8655:0.0:0.0:0.1345 . 313 Q9H0Q0 FA49A_HUMAN P 313 ENSP00000370724:S313P;ENSP00000384771:S313P;ENSP00000347744:S313P ENSP00000347744:S313P S - 1 0 FAM49A 16597720 1.000000 0.71417 0.976000 0.42696 0.996000 0.88848 3.343000 0.52167 1.049000 0.40321 0.533000 0.62120 TCA FAM49A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207203.2 - ENST00000381323.3 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG ZNF80 7634 broad.mit.edu 37 3 113955352 113955352 + Silent SNP C C T TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr3:113955352C>T ENST00000482457.2 - 1.0 1073 c.570G>A c.(568-570)aaG>aaA p.K190K NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 190.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32.0 Lung NSC(201;0.0233)|all_neural(597;0.0837) ACTCACTGCACTTGCAGGGCT 0.478 GBM(23;986 1114 21716) 0 115.0 120.0 118.0 3 113955352.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X65233 CCDS2979.1 3q13.31 2013-01-08 2006-05-12 ENSG00000174255 ENSG00000174255 7634.0 7634.0 """Zinc fingers, C2H2-type""" 13155.0 protein-coding gene gene with protein product 194553.0 """zinc finger protein 80 (pT17)""" 8478004 Standard NM_007136 NM_007136 Approved pT17 uc010hqo.3 P51504 OTTHUMG00000159332 ENST00000482457.2:c.570G>A 3.__UNKNOWN__:g.113955352C>T Q6NSW4|Q6NT14 __UNKNOWN__ CCDS2979.1 ZNF80-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000354696.2 - ENST00000482457.2 Silent SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG AKAP9 10142 broad.mit.edu 37 7 91715671 91715671 + Missense_Mutation SNP C C G TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr7:91715671C>G ENST00000356239.3 + 37.0 9387 c.9154C>G c.(9154-9156)Cta>Gta p.L3052V AKAP9_ENST00000359028.2_Missense_Mutation_p.L3056V|AKAP9_ENST00000358100.2_Missense_Mutation_p.L3002V NM_005751.4|NM_147185.2 NP_005742.4|NP_671714.1 Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3056.0 G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076) ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102) 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) 155.0 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) GCTGACAGCTCTAGGTACTAC 0.388 T BRAF papillary thyroid Dom yes 7 7q21-q22 10142.0 A kinase (PRKA) anchor protein (yotiao) 9 E 0 205.0 202.0 203.0 7 91715671.0 2203.0 4300.0 6503.0 SO:0001583 missense AF091711 CCDS5622.1 7q21-q22 2014-09-17 2013-09-25 ENSG00000127914 ENSG00000127914 10142.0 10142.0 """A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 379.0 protein-coding gene gene with protein product """A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao""" 604001.0 9482789, 10390370, 24475373 Standard NM_005751 NM_147185 Approved KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11 uc003ulg.3 Q99996 OTTHUMG00000131127 ENST00000356239.3:c.9154C>G 7.__UNKNOWN__:g.91715671C>G ENSP00000348573:p.Leu3052Val A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2 __UNKNOWN__ CCDS5622.1 . . . . . . . . . . C 13.75 2.330770 0.41297 . . ENSG00000127914 ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534 T;T;T;T 0.04119 3.8;3.79;3.87;3.7 4.89 4.0 0.46444 . 0.000000 0.31427 N 0.007675 T 0.11623 0.0283 M 0.77616 2.38 0.41032 D 0.985167 D;P;P;P;P 0.57571 0.98;0.944;0.908;0.944;0.944 P;P;B;P;P 0.52514 0.701;0.572;0.368;0.572;0.572 T 0.04454 -1.0950 10 0.33940 T 0.23 . 6.9819 0.24708 0.1274:0.676:0.1238:0.0727 . 3056;3056;3056;3052;3044 F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3 .;.;AKAP9_HUMAN;.;. V 3052;3056;3002;3056;898 ENSP00000348573:L3052V;ENSP00000351922:L3056V;ENSP00000350813:L3002V;ENSP00000378042:L898V ENSP00000348573:L3052V L + 1 2 AKAP9 91553607 0.994000 0.37717 0.996000 0.52242 0.971000 0.66376 0.818000 0.27295 1.390000 0.46547 0.585000 0.79938 CTA AKAP9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253808.2 + ENST00000356239.3 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG B4GALNT4 338707 broad.mit.edu 37 11 375706 375706 + Silent SNP G G C TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr11:375706G>C ENST00000329962.6 + 10.0 918 c.918G>C c.(916-918)ggG>ggC p.G306G NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 306.0 metabolic process (GO:0008152) Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021) acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842) endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24.0 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACGTGGGGGGGCGTCCGCCGC 0.677 0 24.0 28.0 26.0 11 375706.0 2176.0 4275.0 6451.0 SO:0001819 synonymous_variant AB089939 CCDS7694.1 11p15.5 2013-02-19 ENSG00000182272 ENSG00000182272 338707.0 338707.0 2.4.1.- """Beta 4-glycosyltransferases""" 26315.0 protein-coding gene gene with protein product 15044014 Standard NM_178537 NM_178537 Approved FLJ25045, NGalNAc-T1 uc001lpb.3 Q76KP1 OTTHUMG00000119075 ENST00000329962.6:c.918G>C 11.__UNKNOWN__:g.375706G>C Q96LV2 __UNKNOWN__ CCDS7694.1 B4GALNT4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000239289.2 + ENST00000329962.6 Silent SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG ADAMTS10 81794 broad.mit.edu 37 19 8654799 8654799 + Missense_Mutation SNP A A T TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr19:8654799A>T ENST00000597188.1 - 16.0 2144 c.1874T>A c.(1873-1875)tTc>tAc p.F625Y ADAMTS10_ENST00000270328.4_Missense_Mutation_p.F625Y|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.S116T NM_030957.2 NP_112219.3 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 625.0 Cys-rich. extracellular matrix (GO:0031012)|microfibril (GO:0001527) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53.0 CCACTTGTAGAATTTCCCACG 0.577 0 72.0 65.0 67.0 19 8654799.0 2203.0 4300.0 6503.0 SO:0001583 missense AF163762 CCDS12206.1, CCDS62529.1 19p13.2 2014-08-12 2005-08-19 ENSG00000142303 ENSG00000142303 81794.0 81794.0 """ADAM metallopeptidases with thrombospondin type 1 motif""" 13201.0 protein-coding gene gene with protein product 608990.0 """a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10""" Standard NM_030957 XM_005272499 Approved ADAM-TS10 uc002mkj.1 Q9H324 OTTHUMG00000182216 ENST00000597188.1:c.1874T>A 19.__UNKNOWN__:g.8654799A>T ENSP00000471851:p.Phe625Tyr M0QZE4 __UNKNOWN__ CCDS12206.1 . . . . . . . . . . A 4.311 0.057109 0.08339 . . ENSG00000142303 ENST00000270328;ENST00000393912 T 0.05786 3.39 4.73 3.67 0.42095 . 0.153280 0.45606 U 0.000351 T 0.01976 0.0062 N 0.02412 -0.56 0.38436 D 0.946564 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.001 T 0.37572 -0.9700 10 0.02654 T 1 . 7.1517 0.25614 0.5662:0.0:0.0:0.4338 . 379;625 Q59FE5;Q9H324 .;ATS10_HUMAN Y 625;379 ENSP00000270328:F625Y ENSP00000270328:F625Y F - 2 0 ADAMTS10 8560799 1.000000 0.71417 1.000000 0.80357 0.818000 0.46254 3.873000 0.56093 1.746000 0.51805 0.482000 0.46254 TTC ADAMTS10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000460085.3 - ENST00000597188.1 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG MCPH1 79648 broad.mit.edu 37 8 6264189 6264189 + Translation_Start_Site SNP A A G TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr8:6264189A>G ENST00000344683.5 + 1.0 77 c.1A>G c.(1-3)Atg>Gtg p.M1V MCPH1_ENST00000519480.1_Start_Codon_SNP_p.M1V|MCPH1_ENST00000522905.1_Start_Codon_SNP_p.M1V|RP11-115C21.2_ENST00000523225.1_RNA NM_024596.3 NP_078872 Q8NEM0 MCPH1_HUMAN microcephalin 1 1.0 BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}. cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654) identical protein binding (GO:0042802) AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6.0 Hepatocellular(245;0.0663) Colorectal(4;0.0505) GCCGTCTGTCATGGCGGCCCC 0.726 Colon(95;1448 1467 8277 34473 35819) 0 18.0 24.0 22.0 8 6264189.0 1865.0 4099.0 5964.0 SO:0001582 initiator_codon_variant AK022909 CCDS43689.1, CCDS55190.1, CCDS55191.1 8p23.1 2012-11-26 2007-11-26 ENSG00000147316 ENSG00000147316 79648.0 79648.0 6954.0 protein-coding gene gene with protein product """BRCT-repeat inhibitor of TERT expression 1""" 607117.0 """microcephaly, primary autosomal recessive 1""" 9683597, 17925396 Standard NM_024596 NM_024596 Approved FLJ12847, BRIT1 uc003wqi.3 Q8NEM0 OTTHUMG00000163618 ENST00000344683.5:c.1A>G 8.__UNKNOWN__:g.6264189A>G ENSP00000342924:p.Met1Val B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7 __UNKNOWN__ CCDS43689.1 . . . . . . . . . . A 12.56 1.974086 0.34848 . . ENSG00000147316 ENST00000344683;ENST00000519480;ENST00000522905 T;T;T 0.05319 3.83;3.46;3.48 1.22 1.22 0.21188 BRCT (1); 1.777740 0.03880 N 0.277012 T 0.06917 0.0176 . . . 0.80722 D 1 P;B;P 0.43392 0.805;0.001;0.458 P;B;B 0.45506 0.483;0.001;0.292 T 0.51482 -0.8700 9 0.18276 T 0.48 -1.8172 4.6018 0.12357 1.0:0.0:0.0:0.0 . 1;1;1 E9PH63;Q8NEM0;E9PGU5 .;MCPH1_HUMAN;. V 1 ENSP00000342924:M1V;ENSP00000430962:M1V;ENSP00000430768:M1V ENSP00000342924:M1V M + 1 0 MCPH1 6251597 0.643000 0.27269 0.599000 0.28851 0.113000 0.19764 2.142000 0.42177 0.814000 0.34374 0.383000 0.25322 ATG MCPH1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374532.2 Missense_Mutation + ENST00000344683.5 Start_Codon_SNP SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG RBM38 55544 broad.mit.edu 37 20 55982660 55982660 + Missense_Mutation SNP G G A TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr20:55982660G>A ENST00000356208.5 + 4.0 653 c.478G>A c.(478-480)Gcc>Acc p.A160T RBM38_ENST00000371219.2_Missense_Mutation_p.A79T|RBM38_ENST00000440234.2_3'UTR NM_017495.5 NP_059965.2 Q9H0Z9 RBM38_HUMAN RNA binding motif protein 38 160.0 3'-UTR-mediated mRNA stabilization (GO:0070935)|cell cycle (GO:0007049)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|regulation of myotube differentiation (GO:0010830)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9.0 Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08) GATCCCAGCCGCCCCTGTCCC 0.662 0 32.0 42.0 39.0 20 55982660.0 2163.0 4256.0 6419.0 SO:0001583 missense X75314 CCDS46617.1, CCDS46618.1 20q13.31 2013-02-12 2006-07-11 2006-07-11 ENSG00000132819 ENSG00000132819 55544.0 55544.0 """RNA binding motif (RRM) containing""" 15818.0 protein-coding gene gene with protein product 612428.0 """RNA-binding region (RNP1, RRM) containing 1""" RNPC1 Standard NM_183425 NM_017495 Approved HSRNASEB, SEB4D, seb4B, dJ800J21.2 uc010zzj.2 Q9H0Z9 OTTHUMG00000032820 ENST00000356208.5:c.478G>A 20.__UNKNOWN__:g.55982660G>A ENSP00000348538:p.Ala160Thr A6NDK1|A6NMU6|Q15350|Q15351|Q9BYK3|Q9BYK4 __UNKNOWN__ CCDS46617.1 . . . . . . . . . . G 4.922 0.171288 0.09391 . . ENSG00000132819 ENST00000356208;ENST00000371219 T;T 0.19250 2.56;2.16 4.55 0.757 0.18427 . 0.193349 0.45867 N 0.000332 T 0.05960 0.0155 N 0.01874 -0.695 0.30029 N 0.813679 B 0.02656 0.0 B 0.01281 0.0 T 0.36504 -0.9745 10 0.12103 T 0.63 -4.6418 7.1131 0.25401 0.6394:0.0:0.3606:0.0 . 160 Q9H0Z9 RBM38_HUMAN T 160;79 ENSP00000348538:A160T;ENSP00000360263:A79T ENSP00000348538:A160T A + 1 0 RBM38 55416066 0.491000 0.26019 0.468000 0.27192 0.150000 0.21749 0.898000 0.28404 0.237000 0.21200 0.462000 0.41574 GCC RBM38-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079843.4 + ENST00000356208.5 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG KRT72 140807 broad.mit.edu 37 12 52981542 52981542 + Missense_Mutation SNP C C T rs145882334 byFrequency TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr12:52981542C>T ENST00000537672.2 - 7.0 1193 c.1183G>A c.(1183-1185)Gcc>Acc p.A395T KRT72_ENST00000398066.3_Missense_Mutation_p.A207T|KRT72_ENST00000354310.4_Missense_Mutation_p.A353T|KRT72_ENST00000293745.2_Missense_Mutation_p.A395T NM_001146225.1 NP_001139697.1 Q14CN4 K2C72_HUMAN keratin 72 395.0 Coil 2.|Rod. extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36.0 BRCA - Breast invasive adenocarcinoma(357;0.195) TGGTGCAGGGCGCCCTCCAGC 0.662 0 C THR/ALA,THR/ALA,THR/ALA 1,4405 2.1+/-5.4 0,1,2202 80.0 74.0 76.0 1183,1057,1183 4.0 0.8 12 dbSNP_134 76.0 2,8598 2.2+/-6.3 0,2,4298 no missense,missense,missense KRT72 NM_001146225.1,NM_001146226.1,NM_080747.2 58,58,58 0,3,6500 TT,TC,CC 0.0233,0.0227,0.0231 possibly-damaging,possibly-damaging,possibly-damaging 395/512,353/470,395/512 52981542.0 3,13003 2203.0 4300.0 6503.0 SO:0001583 missense AY033495 CCDS8833.1, CCDS53795.1 12q13.13 2013-06-25 ENSG00000170486 ENSG00000170486 140807.0 140807.0 """-"", ""Intermediate filaments type II, keratins (basic)""" 28932.0 protein-coding gene gene with protein product 608246.0 12648212, 11703281, 16831889 Standard NM_080747 NM_080747 Approved K6IRS2, KRT6IRS2, KRT6, K6irs uc001saq.2 Q14CN4 OTTHUMG00000169744 ENST00000537672.2:c.1183G>A 12.__UNKNOWN__:g.52981542C>T ENSP00000441160:p.Ala395Thr B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0 __UNKNOWN__ CCDS8833.1 . . . . . . . . . . C 29.8 5.038220 0.93630 2.27E-4 2.33E-4 ENSG00000170486 ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066 D;D;D;D 0.89343 -2.44;-2.44;-2.5;-2.44 4.92 4.03 0.46877 Filament (1); 0.122636 0.36167 N 0.002757 D 0.95796 0.8632 H 0.96518 3.835 0.41093 D 0.985613 D;D 0.76494 0.999;0.999 D;D 0.65684 0.937;0.937 D 0.97169 0.9843 10 0.87932 D 0 . 14.1097 0.65113 0.0:0.926:0.0:0.074 . 353;395 B4DEI8;Q14CN4 .;K2C72_HUMAN T 395;395;353;207 ENSP00000441160:A395T;ENSP00000293745:A395T;ENSP00000346269:A353T;ENSP00000446151:A207T ENSP00000293745:A395T A - 1 0 KRT72 51267809 1.000000 0.71417 0.790000 0.31976 0.992000 0.81027 4.890000 0.63178 1.383000 0.46405 0.650000 0.86243 GCC KRT72-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405693.1 - ENST00000537672.2 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG EMC9 51016 broad.mit.edu 37 14 24610468 24610468 + Silent SNP G G A TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr14:24610468G>A ENST00000560403.1 - 1.0 223 EMC9_ENST00000419198.2_Silent_p.L16L|EMC9_ENST00000216799.4_Silent_p.L16L|EMC9_ENST00000558200.1_5'UTR Q9Y3B6 EMC9_HUMAN ER membrane protein complex subunit 9 cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546) GCAGCATGCAGGCACATCTTC 0.647 OREG0022618 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 88.0 86.0 86.0 14 24610468.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant BF346999 CCDS9613.1 14q12 2012-05-30 2012-05-30 2012-05-30 ENSG00000100908 ENSG00000100908 51016.0 51016.0 20273.0 protein-coding gene gene with protein product """chromosome 14 open reading frame 122"", ""family with sequence similarity 158, member A""" C14orf122, FAM158A 22119785 Standard NM_016049 NM_016049 Approved CGI-112 uc001wmi.3 Q9Y3B6 OTTHUMG00000028796 ENST00000560403.1:c.198+88C>T 14.__UNKNOWN__:g.24610468G>A 772.0 D3DS60|Q9BUM3 __UNKNOWN__ EMC9-004 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000415518.1 - ENST00000560403.1 Intron SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG ZFP41 286128 broad.mit.edu 37 8 144332586 144332586 + Silent SNP A A G TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr8:144332586A>G ENST00000330701.4 + 2.0 942 c.573A>G c.(571-573)aaA>aaG p.K191K ZFP41_ENST00000522452.1_Silent_p.K191K|ZFP41_ENST00000520584.1_Silent_p.K191K NM_173832.4 NP_776193.1 Q8N8Y5 ZFP41_HUMAN ZFP41 zinc finger protein 191.0 cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(2)|lung(4)|ovary(1) 8.0 all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) GCCATCAGAAACGCCACCCTC 0.642 0 57.0 67.0 64.0 8 144332586.0 2199.0 4298.0 6497.0 SO:0001819 synonymous_variant CCDS6397.1 8q24.3 2013-01-08 2012-11-27 ENSG00000181638 ENSG00000181638 286128.0 286128.0 """Zinc fingers, C2H2-type""" 26786.0 protein-coding gene gene with protein product """zinc finger protein 41 homolog (mouse)""" 11214971 Standard NM_173832 NM_173832 Approved FLJ38705, FLJ00028, ZNF753 uc003yxw.4 Q8N8Y5 OTTHUMG00000164951 ENST00000330701.4:c.573A>G 8.__UNKNOWN__:g.144332586A>G D3DWJ5 __UNKNOWN__ CCDS6397.1 ZFP41-001 KNOWN NMD_exception|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381114.2 + ENST00000330701.4 Silent SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG ACSM2B 348158 broad.mit.edu 37 16 20565160 20565160 + Missense_Mutation SNP G G A TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr16:20565160G>A ENST00000329697.6 - 5.0 847 c.679C>T c.(679-681)Ctt>Ttt p.L227F ACSM2B_ENST00000565232.1_Missense_Mutation_p.L227F|ACSM2B_ENST00000565322.1_Missense_Mutation_p.L148F|ACSM2B_ENST00000567001.1_Missense_Mutation_p.L227F NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 227.0 fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57.0 ATCTTGGGAAGACCACTGGTC 0.512 0 G PHE/LEU,PHE/LEU 0,4400 0,0,2200 95.0 87.0 90.0 679,679 2.3 0.2 16 90.0 3,8559 3.0+/-9.4 0,3,4278 no missense,missense ACSM2B NM_001105069.1,NM_182617.3 22,22 0,3,6478 AA,AG,GG 0.035,0.0,0.0231 benign,benign 227/578,227/578 20565160.0 3,12959 2200.0 4281.0 6481.0 SO:0001583 missense AY160217 CCDS10586.1 16p12.3 2014-08-08 2007-06-20 2007-06-20 ENSG00000066813 ENSG00000066813 348158.0 348158.0 """Acyl-CoA synthetase family""" 30931.0 protein-coding gene gene with protein product """xenobiotic/medium chain fatty acid:CoA ligase""" 614359.0 """acyl-CoA synthetase medium-chain family member 2""" ACSM2 12616642 Standard NM_182617 NM_182617 Approved HXMA, HYST1046 uc002dhk.4 Q68CK6 OTTHUMG00000131555 ENST00000329697.6:c.679C>T 16.__UNKNOWN__:g.20565160G>A ENSP00000327453:p.Leu227Phe Q86YT1 __UNKNOWN__ CCDS10586.1 . . . . . . . . . . G 0.011 -1.728476 0.00694 0.0 3.5E-4 ENSG00000066813 ENST00000329697 T 0.44881 0.91 3.36 2.28 0.28536 AMP-dependent synthetase/ligase (1);AMP-binding, conserved site (1); 0.988822 0.08210 N 0.980877 T 0.33177 0.0854 L 0.53249 1.67 0.20703 N 0.999861 B;B 0.15930 0.015;0.015 B;B 0.17098 0.017;0.017 T 0.35847 -0.9772 10 0.10111 T 0.7 -0.0158 5.5407 0.17036 0.0:0.2177:0.5587:0.2236 . 227;227 A8K051;Q68CK6 .;ACS2B_HUMAN F 227 ENSP00000327453:L227F ENSP00000327453:L227F L - 1 0 ACSM2B 20472661 0.001000 0.12720 0.197000 0.23402 0.153000 0.21895 0.773000 0.26661 1.878000 0.54408 0.609000 0.83330 CTT ACSM2B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254417.2 - ENST00000329697.6 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG CCDC64B 146439 broad.mit.edu 37 16 3085362 3085362 + Missense_Mutation SNP C C G TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr16:3085362C>G ENST00000572449.1 - 2.0 198 c.136G>C c.(136-138)Gag>Cag p.E46Q CCDC64B_ENST00000389347.4_Missense_Mutation_p.E46Q|RP11-473M20.5_ENST00000382225.3_RNA A1A5D9 BICR2_HUMAN coiled-coil domain containing 64B 46.0 breast(1)|endometrium(2)|large_intestine(1) 4.0 TCCTCGGGCTCCTCAGGCCCT 0.662 0 11.0 13.0 13.0 16 3085362.0 1892.0 4102.0 5994.0 SO:0001583 missense BC128602 CCDS45393.1 16p13.3 2008-07-04 ENSG00000162069 146439.0 146439.0 33584.0 protein-coding gene gene with protein product Standard NM_001103175 Approved uc002ctf.4 A1A5D9 ENST00000572449.1:c.136G>C 16.__UNKNOWN__:g.3085362C>G ENSP00000459043:p.Glu46Gln Q658L9 __UNKNOWN__ CCDS45393.1 . . . . . . . . . . c 11.10 1.540795 0.27563 . . ENSG00000162069 ENST00000389347 T 0.31247 1.5 5.08 5.08 0.68730 . 0.302831 0.30311 N 0.009909 T 0.29817 0.0745 L 0.29908 0.895 0.09310 N 1 D 0.54207 0.965 P 0.47981 0.563 T 0.12760 -1.0535 10 0.27082 T 0.32 -20.1274 15.9724 0.80031 0.0:1.0:0.0:0.0 . 46 A1A5D9 BICR2_HUMAN Q 46 ENSP00000373998:E46Q ENSP00000373998:E46Q E - 1 0 CCDC64B 3025363 0.089000 0.21612 0.685000 0.30070 0.520000 0.34377 2.376000 0.44292 2.361000 0.80049 0.457000 0.33378 GAG CCDC64B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000436991.1 - ENST00000572449.1 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG TUBGCP6 85378 broad.mit.edu 37 22 50657281 50657281 + Missense_Mutation SNP G G T TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr22:50657281G>T ENST00000248846.5 - 21.0 4776 c.4672C>A c.(4672-4674)Ctg>Atg p.L1558M TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1558.0 G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278) centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922) microtubule binding (GO:0008017) 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) 45.0 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) ACAGAGTTCAGCACCAGCGGG 0.637 0 64.0 63.0 63.0 22 50657281.0 2203.0 4300.0 6503.0 SO:0001583 missense AB051456 CCDS14087.1 22q13.31-q13.33 2008-07-01 ENSG00000128159 ENSG00000128159 85378.0 85378.0 18127.0 protein-coding gene gene with protein product """gamma-tubulin complex component 6""" 610053.0 11694571, 11258795 Standard NM_020461 XR_244458 Approved GCP6, KIAA1669, DJ402G11.6 uc003bkb.1 Q96RT7 OTTHUMG00000030150 ENST00000248846.5:c.4672C>A 22.__UNKNOWN__:g.50657281G>T ENSP00000248846:p.Leu1558Met Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4 __UNKNOWN__ CCDS14087.1 . . . . . . . . . . G 14.54 2.566330 0.45694 . . ENSG00000128159 ENST00000248846;ENST00000425018 T;T 0.11604 2.76;2.76 4.63 3.6 0.41247 . 0.139198 0.47093 D 0.000260 T 0.25568 0.0622 L 0.50333 1.59 0.80722 D 1 D;D;D 0.89917 1.0;0.998;0.998 D;D;D 0.97110 1.0;0.991;0.985 T 0.00763 -1.1576 10 0.49607 T 0.09 . 12.8342 0.57763 0.0815:0.0:0.9185:0.0 . 1550;1558;1558 B2RWN4;Q96RT7;Q96RT7-3 .;GCP6_HUMAN;. M 1558;244 ENSP00000248846:L1558M;ENSP00000405979:L244M ENSP00000248846:L1558M L - 1 2 TUBGCP6 48999408 1.000000 0.71417 0.359000 0.25824 0.162000 0.22319 5.066000 0.64351 1.153000 0.42468 0.591000 0.81541 CTG TUBGCP6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000075004.3 - ENST00000248846.5 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG INSRR 3645 broad.mit.edu 37 1 156816315 156816315 + Silent SNP A A T TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr1:156816315A>T ENST00000368195.3 - 8.0 2202 c.1806T>A c.(1804-1806)ccT>ccA p.P602P NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 602.0 Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}. actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) 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) 42.0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCCTACCTGCAGGCAGCGTTC 0.582 0 87.0 64.0 72.0 1 156816315.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant J05046 CCDS1160.1 1q21-q23 2013-02-11 ENSG00000027644 ENSG00000027644 3645.0 3645.0 """Fibronectin type III domain containing""" 6093.0 protein-coding gene gene with protein product 147671.0 2768234, 2249481 Standard NM_014215 NM_014215 Approved IRR uc010pht.2 P14616 OTTHUMG00000041291 ENST00000368195.3:c.1806T>A 1.__UNKNOWN__:g.156816315A>T O60724|Q5VZS3 __UNKNOWN__ CCDS1160.1 INSRR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000098929.1 - ENST00000368195.3 Silent SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG STON1 11037 broad.mit.edu 37 2 48809015 48809015 + Missense_Mutation SNP A A G TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr2:48809015A>G ENST00000406226.1 + 3.0 1438 c.1243A>G c.(1243-1245)Att>Gtt p.I415V STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.I415V|STON1_ENST00000309835.3_Missense_Mutation_p.I415V|STON1_ENST00000404752.1_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.I415V NM_001198595.1 NP_001185524.1 Q9Y6Q2 STON1_HUMAN stonin 1 415.0 MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}. endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100) clathrin adaptor complex (GO:0030131) NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37.0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GGAGCAAGAAATTTCCTTGGA 0.393 0 71.0 74.0 73.0 2 48809015.0 2203.0 4300.0 6503.0 SO:0001583 missense AF026169 CCDS1841.1 2p16.3 2008-02-05 ENSG00000243244 ENSG00000243244 11037.0 11037.0 17003.0 protein-coding gene gene with protein product """stoned B homolog 1 (Drosophila)""" 605357.0 14504226, 10364255 Standard NM_006873 NM_001198595 Approved SBLF, stoned-b1 Q9Y6Q2 OTTHUMG00000129169 ENST00000406226.1:c.1243A>G 2.__UNKNOWN__:g.48809015A>G ENSP00000384615:p.Ile415Val A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3 __UNKNOWN__ CCDS1841.1 . . . . . . . . . . A 4.491 0.091034 0.08632 . . ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781 ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751 T;T;T;T;T;T;T;T 0.18016 2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24 5.54 0.0225 0.14133 Clathrin adaptor, mu subunit, C-terminal (3); 0.327469 0.36932 N 0.002340 T 0.09024 0.0223 N 0.20530 0.585 0.22500 N 0.999045 B;B;B 0.25312 0.008;0.004;0.123 B;B;B 0.27887 0.032;0.007;0.084 T 0.39143 -0.9628 10 0.15499 T 0.54 . 8.875 0.35340 0.5776:0.3588:0.0636:0.0 . 415;415;415 A8MXJ1;Q53S48;Q9Y6Q2 .;.;STON1_HUMAN V 415 ENSP00000385273:I415V;ENSP00000384615:I415V;ENSP00000310969:I415V;ENSP00000385499:I415V;ENSP00000385701:I415V;ENSP00000378236:I415V;ENSP00000311493:I415V;ENSP00000378234:I415V ENSP00000310969:I415V I + 1 0 STON1-GTF2A1L;STON1 48662519 1.000000 0.71417 0.030000 0.17652 0.875000 0.50365 1.823000 0.39062 -0.112000 0.11979 0.533000 0.62120 ATT STON1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000323848.2 + ENST00000406226.1 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG TNXB 7148 broad.mit.edu 37 6 32053641 32053641 + Missense_Mutation SNP C C T TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr6:32053641C>T ENST00000375244.3 - 7.0 3235 c.3034G>A c.(3034-3036)Gtc>Atc p.V1012I TNXB_ENST00000375247.2_Missense_Mutation_p.V1012I P22105 TENX_HUMAN tenascin XB 1099.0 Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}. actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578) heparin binding (GO:0008201)|integrin binding (GO:0005178) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8.0 GCCTGGCGGACGTCCCCTGGC 0.657 0 52.0 61.0 58.0 6 32053641.0 1303.0 2564.0 3867.0 SO:0001583 missense X71923 CCDS4736.1 6p21.3 2013-02-11 ENSG00000168477 ENSG00000168477 7148.0 7148.0 """Fibrinogen C domain containing"", ""Fibronectin type III domain containing""" 11976.0 protein-coding gene gene with protein product 600985.0 TNXB1, TNXB2 8530023 Standard NM_019105 NM_019105 Approved TNXBS, XBS, XB uc021yvf.2 P22105 OTTHUMG00000031088 ENST00000375244.3:c.3034G>A 6.__UNKNOWN__:g.32053641C>T ENSP00000364393:p.Val1012Ile P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7 __UNKNOWN__ . . . . . . . . . . c 9.863 1.196747 0.22037 . . ENSG00000168477 ENST00000375244;ENST00000375247 T;T 0.04603 3.59;3.59 3.93 -0.23 0.13090 . 1.869340 0.02844 N 0.128234 T 0.01092 0.0036 L 0.27053 0.805 0.09310 N 1 B 0.23316 0.083 B 0.17433 0.018 T 0.46303 -0.9201 10 0.41790 T 0.15 . 2.8668 0.05604 0.1985:0.4262:0.0:0.3753 . 1012 P22105-3 . I 1012 ENSP00000364393:V1012I;ENSP00000364396:V1012I ENSP00000364393:V1012I V - 1 0 TNXB 32161619 0.001000 0.12720 0.489000 0.27452 0.710000 0.40934 -0.126000 0.10563 -0.287000 0.09064 -0.349000 0.07799 GTC TNXB-001 PUTATIVE not_organism_supported|basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000268927.2 - ENST00000375244.3 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG NLRP6 171389 broad.mit.edu 37 11 284621 284621 + Missense_Mutation SNP G G A TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr11:284621G>A ENST00000312165.5 + 7.0 2519 c.2519G>A c.(2518-2520)gGa>gAa p.G840E NLRP6_ENST00000534750.1_Missense_Mutation_p.G839E NM_138329.1 NP_612202.2 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 840.0 G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000) breast(1)|skin(1)|upper_aerodigestive_tract(2) 4.0 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CAGCACCAGGGATGCGGCCTG 0.692 0 21.0 18.0 19.0 11 284621.0 2197.0 4278.0 6475.0 SO:0001583 missense AF479748 CCDS7693.1, CCDS60680.1 11p15 2006-12-08 2006-12-08 2006-12-08 ENSG00000174885 ENSG00000174885 171389.0 171389.0 """Nucleotide-binding domain and leucine rich repeat containing""" 22944.0 protein-coding gene gene with protein product """nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6""" 609650.0 """NACHT, leucine rich repeat and PYD containing 6""" NALP6 12563287, 12019269 Standard NM_138329 NM_138329 Approved PYPAF5, PAN3, CLR11.4 uc010qvs.3 P59044 OTTHUMG00000119070 ENST00000312165.5:c.2519G>A 11.__UNKNOWN__:g.284621G>A ENSP00000309767:p.Gly840Glu A8K9F3|E9PJZ8 __UNKNOWN__ CCDS7693.1 . . . . . . . . . . G 3.434 -0.115554 0.06881 . . ENSG00000174885 ENST00000534750;ENST00000312165 T;T 0.52057 0.68;0.68 3.21 -1.91 0.07641 . . . . . T 0.26955 0.0660 L 0.34521 1.04 0.09310 N 1 B;B 0.34103 0.138;0.437 B;B 0.29862 0.065;0.108 T 0.24225 -1.0166 9 0.08837 T 0.75 . 7.268 0.26239 0.1109:0.4965:0.3926:0.0 . 839;840 E9PJZ8;P59044 .;NALP6_HUMAN E 839;840 ENSP00000433617:G839E;ENSP00000309767:G840E ENSP00000309767:G840E G + 2 0 NLRP6 274621 0.000000 0.05858 0.000000 0.03702 0.264000 0.26372 -1.132000 0.03235 -0.498000 0.06632 -0.518000 0.04402 GGA NLRP6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000239283.1 + ENST00000312165.5 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG AGXT2 64902 broad.mit.edu 37 5 35039553 35039553 + Missense_Mutation SNP C C T TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr5:35039553C>T ENST00000231420.6 - 3.0 438 c.238G>A c.(238-240)Gca>Aca p.A80T NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 80.0 cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) (R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41.0 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119) TGGAAATATGCCGTCACCACA 0.473 0 83.0 87.0 86.0 5 35039553.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ292204 CCDS3908.1 5p13 2010-05-07 2010-05-07 ENSG00000113492 ENSG00000113492 64902.0 64902.0 2.6.1.44 14412.0 protein-coding gene gene with protein product """beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II""" 612471.0 """alanine-glyoxylate aminotransferase 2""" 15240345 Standard NM_031900 NM_031900 Approved AGT2 uc003jjf.3 Q9BYV1 OTTHUMG00000090788 ENST00000231420.6:c.238G>A 5.__UNKNOWN__:g.35039553C>T ENSP00000231420:p.Ala80Thr B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1 __UNKNOWN__ CCDS3908.1 . . . . . . . . . . C 10.57 1.386409 0.25031 . . ENSG00000113492 ENST00000231420 T 0.18960 2.18 5.45 2.29 0.28610 Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1); 0.148518 0.64402 N 0.000015 T 0.12263 0.0298 L 0.33339 1.005 0.19300 N 0.99998 B;B 0.14805 0.011;0.003 B;B 0.15484 0.013;0.003 T 0.26815 -1.0092 10 0.17832 T 0.49 -8.2545 5.2577 0.15555 0.0:0.4016:0.0:0.5984 . 80;80 E9PDL7;Q9BYV1 .;AGT2_HUMAN T 80 ENSP00000231420:A80T ENSP00000231420:A80T A - 1 0 AGXT2 35075310 0.996000 0.38824 0.014000 0.15608 0.149000 0.21700 2.919000 0.48836 0.677000 0.31305 0.655000 0.94253 GCA AGXT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207574.2 - ENST00000231420.6 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG BDH1 622 broad.mit.edu 37 3 197273266 197273266 + Frame_Shift_Del DEL T T - TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr3:197273266delT ENST00000441275.1 - 2.0 359 BDH1_ENST00000392378.2_Frame_Shift_Del_p.T17fs|BDH1_ENST00000358186.2_Frame_Shift_Del_p.T17fs|BDH1_ENST00000392379.1_Frame_Shift_Del_p.T17fs Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634) 3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543) endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11.0 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) GCACTTAGGGTTTTTCCTGGG 0.552 0 109.0 111.0 110.0 3 197273266.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant M93107 CCDS3328.1 3q29 2011-09-14 2005-11-15 2005-11-15 ENSG00000161267 ENSG00000161267 622.0 622.0 1.1.1.30 """Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2""" 1027.0 protein-coding gene gene with protein product """short chain dehydrogenase/reductase family 9C, member 1""" 603063.0 """3-hydroxybutyrate dehydrogenase (heart, mitochondrial)""" BDH 1639787, 19027726 Standard NM_004051 XM_005269352 Approved SDR9C1 uc003fxs.3 Q02338 OTTHUMG00000155478 ENST00000441275.1:c.173+8166A>- 3.__UNKNOWN__:g.197273266delT D3DXC0|Q96ET1|Q9BRZ4 __UNKNOWN__ BDH1-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000340268.1 - ENST00000441275.1 Intron DEL PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG AGRN 375790 broad.mit.edu 37 1 980571 980571 + Frame_Shift_Del DEL C C - TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr1:980571delC ENST00000379370.2 + 13.0 2335 c.2285delC c.(2284-2286)gccfs p.A762fs NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 762.0 axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808) basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202) acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200) breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42.0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|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) CCGCCTGTGGCCCCCTTACAC 0.672 0 27.0 28.0 28.0 1 980571.0 2203.0 4297.0 6500.0 SO:0001589 frameshift_variant XM_372195 CCDS30551.1 1p36.33 2014-09-17 2007-02-16 ENSG00000188157 ENSG00000188157 375790.0 375790.0 """Proteoglycans / Extracellular Matrix : Other""" 329.0 protein-coding gene gene with protein product """agrin proteoglycan""" 103320.0 1851019, 12270958 Standard NM_198576 NM_198576 Approved AGRIN uc001ack.2 O00468 OTTHUMG00000040778 ENST00000379370.2:c.2285delC 1.__UNKNOWN__:g.980571delC ENSP00000368678:p.Ala762fs Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4 __UNKNOWN__ CCDS30551.1 AGRN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097990.2 + ENST00000379370.2 Frame_Shift_Del DEL PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG EMG1 10436 broad.mit.edu 37 12 7084784 7084784 + RNA DEL T T - TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr12:7084784delT ENST00000546220.1 + 6.0 651 EMG1_ENST00000261406.6_Intron EMG1 N1-specific pseudouridine methyltransferase TCAGCCATAGTTTTCCTGCCC 0.438 0 SO:0001627 intron_variant U72514 CCDS73430.1 12p13 2013-05-22 2013-05-22 ENSG00000126749 10436.0 10436.0 16912.0 protein-coding gene gene with protein product 611531.0 """EMG1 nucleolar protein homolog (S. cerevisiae)""" 9074930, 11935223, 19463982 Standard NM_006331 NM_006331 Approved C2F, NEP1, Grcc2f uc001qsh.4 Q92979 ENST00000546220.1:c.652-74T>- 12.__UNKNOWN__:g.7084784delT __UNKNOWN__ EMG1-001 KNOWN basic processed_transcript protein_coding OTTHUMT00000401804.2 + ENST00000546220.1 Intron DEL PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG MAP3K19 80122 bcgsc.ca 37 2 135722441 135722441 + Silent SNP G G C TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr2:135722441G>C ENST00000375845.3 - 10.0 3996 c.3966C>G c.(3964-3966)tcC>tcG p.S1322S MAP3K19_ENST00000392918.3_Silent_p.S456S|MAP3K19_ENST00000375844.3_Silent_p.S504S|MAP3K19_ENST00000392917.3_Silent_p.S454S|MAP3K19_ENST00000358371.4_Silent_p.S1209S NM_001018044.2|NM_025052.3 NP_001018054.1|NP_079328.3 Q56UN5 M3K19_HUMAN mitogen-activated protein kinase kinase kinase 19 1322.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) p.S1322S(1) TCTCCAAGAAGGAGTGCTTCA 0.473 1 Substitution - coding silent(1) lung(1) 72.0 63.0 66.0 2 135722441.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK026727 CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1 2q21.3 2012-10-16 2012-10-16 2012-10-16 ENSG00000176601 ENSG00000176601 80122.0 80122.0 """Mitogen-activated protein kinase cascade / Kinase kinase kinases""" 26249.0 protein-coding gene gene with protein product """Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)""" YSK4 12477932 Standard NM_025052 NM_001282883 Approved FLJ23074 uc002tue.1 Q56UN5 OTTHUMG00000074083 ENST00000375845.3:c.3966C>G 2.__UNKNOWN__:g.135722441G>C B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2 __UNKNOWN__ CCDS2176.2 MAP3K19-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000158244.1 - ENST00000375845.3 Silent SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG Unknown 0 bcgsc.ca 37 12 43964425 43964425 + RNA SNP A A G TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr12:43964425A>G ADAMTS20 (18701 upstream) : RP11-350F4.2 (148370 downstream) CTGTTACTGCACTGCAGAGTA 0.373 0 SO:0001628 intergenic_variant 12.__UNKNOWN__:g.43964425A>G __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG ALPL 249 ucsc.edu 37 1 21890552 21890552 + Missense_Mutation SNP T T A TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr1:21890552T>A ENST00000374840.3 + 6.0 741 c.491T>A c.(490-492)gTg>gAg p.V164E ALPL_ENST00000540617.1_Missense_Mutation_p.V109E|ALPL_ENST00000425315.2_Missense_Mutation_p.V164E|ALPL_ENST00000539907.1_Missense_Mutation_p.V87E|ALPL_ENST00000374832.1_Missense_Mutation_p.V164E|ALPL_ENST00000468526.1_3'UTR NM_000478.4 NP_000469.3 P05186 PPBT_HUMAN alkaline phosphatase, liver/bone/kidney 164.0 cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501) anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 26.0 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143)|Fospropofol(DB06716) GTGGGCATTGTGACCACCACG 0.652 0 64.0 63.0 63.0 1 21890552.0 2203.0 4300.0 6503.0 SO:0001583 missense BC021289 CCDS217.1, CCDS53274.1, CCDS53275.1 1p36.12 2008-02-05 ENSG00000162551 ENSG00000162551 249.0 249.0 3.1.3.1 438.0 protein-coding gene gene with protein product 171760 HOPS 3532105, 3446011 Standard NM_000478 NM_001127501 Approved TNSALP uc001bet.3 P05186 OTTHUMG00000002949 ENST00000374840.3:c.491T>A 1.__UNKNOWN__:g.21890552T>A ENSP00000363973:p.Val164Glu A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0 __UNKNOWN__ CCDS217.1 . . . . . . . . . . T 26.5 4.740052 0.89573 . . ENSG00000162551 ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315 D;D;D;D;D 0.98617 -5.03;-5.03;-5.03;-5.03;-5.03 5.28 5.28 0.74379 Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1); 0.000000 0.85682 D 0.000000 D 0.99530 0.9832 H 0.99261 4.49 0.80722 D 1 D;D;D 0.76494 0.999;0.995;0.998 D;D;D 0.81914 0.995;0.989;0.971 D 0.97771 1.0226 10 0.87932 D 0 -11.6896 14.0379 0.64656 0.0:0.0:0.0:1.0 . 87;112;164 B7Z387;B7Z1D1;P05186 .;.;PPBT_HUMAN E 87;109;164;164;164 ENSP00000437674:V87E;ENSP00000442672:V109E;ENSP00000363973:V164E;ENSP00000363965:V164E;ENSP00000394765:V164E ENSP00000363965:V164E V + 2 0 ALPL 21763139 1.000000 0.71417 0.998000 0.56505 0.918000 0.54935 7.662000 0.83803 1.997000 0.58415 0.459000 0.35465 GTG ALPL-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000008202.1 + ENST00000374840.3 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG GLI2 2736 ucsc.edu 37 2 121743888 121743888 + Missense_Mutation SNP G G A TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr2:121743888G>A ENST00000452319.1 + 13.0 2051 c.1991G>A c.(1990-1992)tGc>tAc p.C664Y GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.C336Y|GLI2_ENST00000361492.4_Missense_Mutation_p.C664Y GLI family zinc finger 2 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) 64.0 Renal(3;0.0496) Prostate(154;0.0623) CAGTCGTCCTGCAGCAGCGAG 0.662 0 28.0 33.0 31.0 2 121743888.0 2202.0 4297.0 6499.0 SO:0001583 missense CCDS33283.1 2q14 2013-01-25 2009-03-05 ENSG00000074047 ENSG00000074047 2736.0 2736.0 """Zinc fingers, C2H2-type""" 4318.0 protein-coding gene gene with protein product """tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2""" 165230 """GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2""" 2850480, 9557682 Standard NM_005270 NM_005270 Approved THP2, HPE9, THP1 uc010flp.3 P10070 OTTHUMG00000153741 ENST00000452319.1:c.1991G>A 2.__UNKNOWN__:g.121743888G>A ENSP00000390436:p.Cys664Tyr __UNKNOWN__ CCDS33283.1 . . . . . . . . . . G 24.4 4.529205 0.85706 . . ENSG00000074047 ENST00000452319;ENST00000361492;ENST00000314490 T;T;T 0.19250 2.16;2.16;2.28 4.55 4.55 0.56014 . 0.000000 0.85682 D 0.000000 T 0.54224 0.1845 M 0.89414 3.03 0.80722 D 1 D;D;D;D;D 0.89917 0.998;0.999;1.0;1.0;0.998 D;D;D;D;D 0.91635 0.991;0.996;0.999;0.999;0.968 T 0.65496 -0.6154 10 0.87932 D 0 . 17.4997 0.87727 0.0:0.0:1.0:0.0 . 664;647;319;319;336 P10070;Q0VGA0;P10070-2;P10070-4;P10070-3 GLI2_HUMAN;.;.;.;. Y 664;664;336 ENSP00000390436:C664Y;ENSP00000354586:C664Y;ENSP00000312694:C336Y ENSP00000312694:C336Y C + 2 0 GLI2 121460358 1.000000 0.71417 1.000000 0.80357 0.913000 0.54294 9.648000 0.98483 2.349000 0.79799 0.555000 0.69702 TGC GLI2-009 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000332293.3 + ENST00000452319.1 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG BDP1 55814 hgsc.bcm.edu 37 5 70840945 70840945 + Missense_Mutation SNP T T C TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 T T . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 7c3bf12f-8590-4cdc-9a35-043406ed0ef7 92c39d4a-abec-4f9d-80d6-06eeb76b447e g.chr5:70840945T>C ENST00000358731.4 + 32.0 6906 c.6643T>C c.(6643-6645)Tgc>Cgc p.C2215R BDP1_ENST00000380675.2_Missense_Mutation_p.C351R NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2215.0 gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677) NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72.0 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GACAGGGCCCTGCACACTTGG 0.473 0 T ARG/CYS 0,3700 0,0,1850 116.0 111.0 112.0 6643 1.5 0.0 5 112.0 2,8192 0,2,4095 no missense BDP1 NM_018429.2 180 0,2,5945 CC,CT,TT 0.0244,0.0,0.0168 benign 2215/2625 70840945.0 2,11892 1850.0 4097.0 5947.0 SO:0001583 missense AF298151 CCDS43328.1 5q12-q13 2008-02-05 2001-11-29 2001-11-30 ENSG00000145734 ENSG00000145734 55814.0 55814.0 13652.0 protein-coding gene gene with protein product 607012 """TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1""" TFNR, TAF3B1 11214970, 11040218 Standard NM_018429 NM_018429 Approved TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241 uc003kbp.1 A6H8Y1 OTTHUMG00000162506 ENST00000358731.4:c.6643T>C 5.__UNKNOWN__:g.70840945T>C ENSP00000351575:p.Cys2215Arg Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9 __UNKNOWN__ CCDS43328.1 . . . . . . . . . . T 2.567 -0.300410 0.05532 0.0 2.44E-4 ENSG00000145734 ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546 T;T 0.40756 3.94;1.02 4.55 1.53 0.23141 . 1.904550 0.02143 N 0.057373 T 0.18635 0.0447 N 0.03608 -0.345 0.09310 N 1 B;B 0.10296 0.0;0.003 B;B 0.08055 0.001;0.003 T 0.24440 -1.0160 10 0.07030 T 0.85 . 4.2954 0.10899 0.1799:0.6169:0.0:0.2033 . 2215;2215 A6H8Y1;A6H8Y1-2 BDP1_HUMAN;. R 2215;1763;351;351 ENSP00000351575:C2215R;ENSP00000370050:C351R ENSP00000351575:C2215R C + 1 0 BDP1 70876701 0.000000 0.05858 0.000000 0.03702 0.042000 0.13812 -0.083000 0.11286 0.203000 0.20529 -0.177000 0.13119 TGC BDP1-016 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000374681.2 + ENST00000358731.4 Missense_Mutation SNP PCPG-TCGA-PR-A5PF-Normal-SM-5EQGG HRAS 3265 broad.mit.edu 37 11 534286 534286 + Missense_Mutation SNP C C G rs104894228 TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr11:534286C>G ENST00000451590.1 - 2.0 224 c.37G>C c.(37-39)Ggt>Cgt p.G13R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000417302.1_Missense_Mutation_p.G13R NM_001130442.1|NM_005343.2 NP_001123914.1|NP_005334.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 13.0 G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}. actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022) p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901.0 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) TTGCCCACACCGCCGGCGCCC 0.642 6.0 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) yes Dom yes Costello syndrome 11 11p15.5 3265.0 v-Ha-ras Harvey rat sarcoma viral oncogene homolog """E, L, M""" 88 Substitution - Missense(87)|Insertion - In frame(1) skin(26)|thyroid(17)|urinary_tract(13)|upper_aerodigestive_tract(11)|soft_tissue(8)|lung(5)|salivary_gland(3)|prostate(3)|adrenal_gland(1)|bone(1) GRCh37 CM060018 HRAS M rs104894228 85.0 80.0 82.0 11 534286.0 2202.0 4300.0 6502.0 SO:0001583 missense Familial Cancer Database incl.: Facio-Cutaneous-Skeletal syndrome AJ437024 CCDS7698.1, CCDS7699.1 11p15.5 2014-09-17 2013-07-08 ENSG00000174775 ENSG00000174775 3265.0 3265.0 5173.0 protein-coding gene gene with protein product 190020.0 """v-Ha-ras Harvey rat sarcoma viral oncogene homolog""" HRAS1 Standard NM_176795 NM_176795 Approved uc010qvx.2 P01112 OTTHUMG00000131919 ENST00000451590.1:c.37G>C 11.__UNKNOWN__:g.534286C>G ENSP00000407586:p.Gly13Arg B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2 __UNKNOWN__ CCDS7698.1 . . . . . . . . . . C 18.28 3.589995 0.66105 . . ENSG00000174775 ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189 T;T;T;T;T 0.73575 -0.76;-0.76;-0.76;-0.76;-0.76 3.0 3.0 0.34707 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.84257 0.5432 M 0.74647 2.275 0.80722 D 1 D;D 0.76494 0.999;0.997 D;D 0.73708 0.967;0.981 D 0.86952 0.2086 10 0.87932 D 0 . 14.1517 0.65389 0.0:1.0:0.0:0.0 . 13;13 P01112-2;P01112 .;RASH_HUMAN R 13 ENSP00000380722:G13R;ENSP00000380723:G13R;ENSP00000407586:G13R;ENSP00000388246:G13R;ENSP00000309845:G13R ENSP00000309845:G13R G - 1 0 HRAS 524286 1.000000 0.71417 0.446000 0.26920 0.236000 0.25371 7.472000 0.80996 1.986000 0.57962 0.561000 0.74099 GGT HRAS-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259403.2 - ENST00000451590.1 Missense_Mutation SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN TTC12 54970 broad.mit.edu 37 11 113212566 113212566 + Missense_Mutation SNP T T C TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr11:113212566T>C ENST00000529221.1 + 12.0 1009 c.904T>C c.(904-906)Tcc>Ccc p.S302P TTC12_ENST00000393020.1_Missense_Mutation_p.S302P|TTC12_ENST00000483239.2_Missense_Mutation_p.S308P|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000314756.3_Missense_Mutation_p.S302P NM_017868.3 NP_060338.3 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 302.0 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) 32.0 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) TAGGTGTTTTTCCACAGCAGG 0.423 0 175.0 169.0 171.0 11 113212566.0 2201.0 4296.0 6497.0 SO:0001583 missense AK000542 CCDS8360.2 11q23.2 2013-01-10 ENSG00000149292 ENSG00000149292 54970.0 54970.0 """Tetratricopeptide (TTC) repeat domain containing""" 23700.0 protein-coding gene gene with protein product 610732.0 12964006 Standard NM_017868 XM_005271607 Approved FLJ13859, FLJ20535, TPARM uc001pnu.3 Q9H892 OTTHUMG00000142832 ENST00000529221.1:c.904T>C 11.__UNKNOWN__:g.113212566T>C ENSP00000433757:p.Ser302Pro Q8N5H9|Q9NWY3 __UNKNOWN__ CCDS8360.2 . . . . . . . . . . T 11.17 1.559814 0.27827 . . ENSG00000149292 ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239 T;T;T;T 0.15718 2.43;2.41;2.4;2.43 5.25 4.06 0.47325 Armadillo-type fold (1); 0.649218 0.15974 N 0.235610 T 0.19525 0.0469 M 0.62723 1.935 0.09310 N 1 P;P 0.45283 0.855;0.855 B;B 0.41571 0.36;0.36 T 0.10753 -1.0616 10 0.44086 T 0.13 -8.256 9.7099 0.40238 0.0:0.0:0.1871:0.8129 . 302;302 A8K8G6;Q9H892 .;TTC12_HUMAN P 302;302;302;308 ENSP00000433757:S302P;ENSP00000315160:S302P;ENSP00000376743:S302P;ENSP00000419652:S308P ENSP00000315160:S302P S + 1 0 TTC12 112717776 0.746000 0.28272 0.621000 0.29145 0.102000 0.19082 1.919000 0.40015 1.984000 0.57885 0.459000 0.35465 TCC TTC12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000286455.2 + ENST00000529221.1 Missense_Mutation SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN SLC2A10 81031 broad.mit.edu 37 20 45354641 45354641 + Silent SNP C C A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr20:45354641C>A ENST00000359271.2 + 2.0 1216 c.966C>A c.(964-966)ccC>ccA p.P322P NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 322.0 glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) sugar:proton symporter activity (GO:0005351) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34.0 Myeloproliferative disorder(115;0.0122) TTGCCGTGCCCATGGACTCAG 0.657 0 63.0 57.0 59.0 20 45354641.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AL137188 CCDS13402.1 20q13.12 2013-05-22 ENSG00000197496 ENSG00000197496 81031.0 81031.0 """Solute carriers""" 13444.0 protein-coding gene gene with protein product 606145.0 11247674 Standard NM_030777 Approved GLUT10 uc002xsl.3 O95528 OTTHUMG00000032657 ENST00000359271.2:c.966C>A 20.__UNKNOWN__:g.45354641C>A A8K4J6|Q3MIX5|Q9H4I6 __UNKNOWN__ CCDS13402.1 SLC2A10-001 KNOWN mRNA_end_NF|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079578.2 + ENST00000359271.2 Silent SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN AGAP6 414189 broad.mit.edu 37 10 51749089 51749089 + Missense_Mutation SNP C C G TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr10:51749089C>G ENST00000412531.3 + 2.0 317 c.245C>G c.(244-246)gCc>gGc p.A82G AGAP6_ENST00000374056.4_Intron NM_001077665.2 NP_001071133.2 Q5VW22 AGAP6_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 78.0 regulation of ARF GTPase activity (GO:0032312) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) p.A82G(1) NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29.0 AACCTTTCTGCCAATCCAGAG 0.343 1 Substitution - Missense(1) prostate(1) SO:0001583 missense CCDS44397.1 10q11.23 2013-01-10 2008-09-22 2008-09-22 ENSG00000204149 ENSG00000204149 414189.0 414189.0 """ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing""" 23466.0 protein-coding gene gene with protein product """centaurin, gamma-like family, member 3""" CTGLF3 Standard NM_001077665 NM_001077665 Approved bA324H6.1 uc001jix.4 Q5VW22 OTTHUMG00000018220 ENST00000412531.3:c.245C>G 10.__UNKNOWN__:g.51749089C>G ENSP00000400972:p.Ala82Gly __UNKNOWN__ CCDS44397.1 . . . . . . . . . . C 9.398 1.077299 0.20227 . . ENSG00000204149 ENST00000374056 D 0.88664 -2.41 0.945 -0.993 0.10228 . . . . . T 0.80166 0.4573 L 0.36672 1.1 0.09310 N 1 P 0.38711 0.643 B 0.41691 0.364 T 0.67507 -0.5653 9 0.12103 T 0.63 . 3.7085 0.08410 0.5812:0.4188:0.0:0.0 . 82 C9IYN2 . G 82 ENSP00000363168:A82G ENSP00000363168:A82G A + 2 0 AGAP6 51419095 0.000000 0.05858 0.447000 0.26932 0.050000 0.14768 -0.315000 0.08081 -0.186000 0.10533 0.175000 0.17021 GCC AGAP6-001 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000048058.2 + ENST00000412531.3 Missense_Mutation SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN BRCA2 675 broad.mit.edu 37 13 32972852 32972852 + Missense_Mutation SNP C C T rs55853199 TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr13:32972852C>T ENST00000380152.3 + 27.0 10435 c.10202C>T c.(10201-10203)aCg>aTg p.T3401M BRCA2_ENST00000544455.1_Missense_Mutation_p.T3401M P51587 BRCA2_HUMAN breast cancer 2, early onset 3401.0 brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283) BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141) gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697) 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) 183.0 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) CAGGCCAGTACGGAAGAATGT 0.398 """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) C 0.0 0.0 2184.0 1.0 , , 0.0003 0.0 0.0 EXOME 0.0005 SNP Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332) yes Rec yes Hereditary breast/ovarian cancer 13 13q12 675.0 familial breast/ovarian cancer gene 2 """L, E""" 0 GRCh37 HM971469 BRCA2 M rs55853199 59.0 56.0 57.0 13 32972852.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups) U43746 CCDS9344.1 13q12-q13 2014-09-17 2003-10-14 ENSG00000139618 ENSG00000139618 675.0 675.0 """Fanconi anemia, complementation groups""" 1101.0 protein-coding gene gene with protein product """BRCA1/BRCA2-containing complex, subunit 2""" 600185.0 """Fanconi anemia, complementation group D1""" FANCD1, FACD, FANCD 8091231, 7581463, 15057823 Standard NM_000059 NM_000059 Approved FAD, FAD1, BRCC2 uc001uub.1 P51587 OTTHUMG00000017411 ENST00000380152.3:c.10202C>T 13.__UNKNOWN__:g.32972852C>T ENSP00000369497:p.Thr3401Met O00183|O15008|Q13879|Q5TBJ7 __UNKNOWN__ CCDS9344.1 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 C 10.12 1.264080 0.23136 . . ENSG00000139618 ENST00000380152;ENST00000544455 T;T 0.00776 5.71;5.71 5.23 1.42 0.22433 . 1.003580 0.08024 N 0.992518 T 0.00845 0.0028 L 0.32530 0.975 0.09310 N 1 B 0.27351 0.176 B 0.19946 0.027 T 0.48758 -0.9007 10 0.72032 D 0.01 . 6.1574 0.20346 0.2623:0.5787:0.0:0.159 rs55853199 3401 P51587 BRCA2_HUMAN M 3401 ENSP00000369497:T3401M;ENSP00000439902:T3401M ENSP00000369497:T3401M T + 2 0 BRCA2 31870852 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 0.080000 0.14802 -0.032000 0.13758 -1.466000 0.01016 ACG BRCA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000046000.2 + ENST00000380152.3 Missense_Mutation SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN CENPI 2491 broad.mit.edu 37 X 100356051 100356051 + Translation_Start_Site SNP T T A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chrX:100356051T>A ENST00000372927.1 + 0.0 269 CENPI_ENST00000218507.5_De_novo_Start_OutOfFrame|CENPI_ENST00000372926.1_De_novo_Start_OutOfFrame|CENPI_ENST00000423383.1_De_novo_Start_OutOfFrame NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548) cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30.0 GTGTAGAACATATGCAGTAAT 0.393 0 92.0 78.0 83.0 X 100356051.0 2203.0 4300.0 6503.0 X97249 CCDS14479.1 Xq22.1 2013-11-05 2006-06-15 2006-06-15 ENSG00000102384 ENSG00000102384 2491.0 2491.0 3968.0 protein-coding gene gene with protein product 300065.0 """FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1""" FSHPRH1 16622420 Standard NM_006733 NM_006733 Approved LRPR1, CENP-I, Mis6 uc004egx.3 Q92674 OTTHUMG00000022018 ENST00000372927.1:c.-9T>A X.__UNKNOWN__:g.100356051T>A Q5JWZ9|Q96ED0 __UNKNOWN__ CCDS14479.1 CENPI-004 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000057519.1 + ENST00000372927.1 De_novo_Start_OutOfFrame SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN BPTF 2186 broad.mit.edu 37 17 65944414 65944414 + Missense_Mutation SNP G G A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr17:65944414G>A ENST00000306378.6 + 23.0 7978 c.7918G>A c.(7918-7920)Gaa>Aaa p.E2640K BPTF_ENST00000335221.5_Missense_Mutation_p.E2623K|BPTF_ENST00000321892.4_Missense_Mutation_p.E2766K|BPTF_ENST00000424123.3_Missense_Mutation_p.E2484K NM_182641.3 NP_872579.2 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2766.0 anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589) sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) 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) 78.0 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) TCTGCAAATTGAAGTGCAGGT 0.443 0 69.0 50.0 57.0 17 65944414.0 2203.0 4300.0 6503.0 SO:0001583 missense AY282495 CCDS11673.1 17q24 2013-01-28 2006-12-01 2006-12-01 ENSG00000171634 ENSG00000171634 2186.0 2186.0 """Zinc fingers, PHD-type""" 3581.0 protein-coding gene gene with protein product 601819.0 """fetal Alzheimer antigen""" FALZ 8975731, 10662542, 16728976 Standard NM_182641, NM_004459 NM_182641 Approved FAC1, NURF301 uc002jgf.3 Q12830 OTTHUMG00000132254 ENST00000306378.6:c.7918G>A 17.__UNKNOWN__:g.65944414G>A ENSP00000307208:p.Glu2640Lys Q6NX67|Q7Z7D6|Q9UIG2 __UNKNOWN__ CCDS11673.1 . . . . . . . . . . G 10.95 1.496041 0.26774 . . ENSG00000171634 ENST00000306378;ENST00000335221;ENST00000321892;ENST00000424123 T;T;T 0.64438 2.61;-0.1;2.61 5.75 3.66 0.41972 . . . . . T 0.64327 0.2588 M 0.61703 1.905 0.44268 D 0.997127 P;P;P 0.49961 0.93;0.649;0.649 P;B;B 0.45138 0.471;0.23;0.23 T 0.69034 -0.5252 9 0.66056 D 0.02 -4.5391 15.911 0.79473 0.0:0.2646:0.7354:0.0 . 444;2640;2623 B4DJV8;Q12830-2;Q12830-4 .;.;. K 2640;2623;2766;294 ENSP00000307208:E2640K;ENSP00000334351:E2623K;ENSP00000315454:E2766K ENSP00000307208:E2640K E + 1 0 BPTF 63374876 0.992000 0.36948 0.479000 0.27329 0.029000 0.11900 2.001000 0.40825 0.697000 0.31718 0.563000 0.77884 GAA BPTF-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000255334.2 + ENST00000306378.6 Missense_Mutation SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN LONRF3 79836 broad.mit.edu 37 X 118143095 118143095 + Missense_Mutation SNP G G T TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chrX:118143095G>T ENST00000371628.3 + 7.0 1568 c.1537G>T c.(1537-1539)Gca>Tca p.A513S LONRF3_ENST00000304778.7_Missense_Mutation_p.A472S|LONRF3_ENST00000422289.2_Missense_Mutation_p.A257S|LONRF3_ENST00000472173.1_3'UTR NM_001031855.1 NP_001027026.1 Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 513.0 ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270) 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) 36.0 GTAGTGCTTGGCATCAAGAAA 0.378 0 92.0 83.0 86.0 X 118143095.0 2203.0 4300.0 6503.0 SO:0001583 missense AK026265 CCDS14575.1, CCDS35374.1, CCDS76014.1 Xq24 2013-01-09 2005-08-19 2005-08-19 ENSG00000175556 ENSG00000175556 79836.0 79836.0 """RING-type (C3HC4) zinc fingers""" 21152.0 protein-coding gene gene with protein product """ring finger protein 127""" RNF127 Standard NM_024778 XM_005262476 Approved FLJ22612 uc004eqw.3 Q496Y0 OTTHUMG00000022262 ENST00000371628.3:c.1537G>T X.__UNKNOWN__:g.118143095G>T ENSP00000360690:p.Ala513Ser Q5JPN6|Q8NB00|Q9H647 __UNKNOWN__ CCDS35374.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 15.63|15.63 2.889486|2.889486 0.52014|0.52014 .|. .|. ENSG00000175556|ENSG00000175556 ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603 T;T;T;D|. 0.84370|. -1.37;-1.37;-1.16;-1.84|. 6.08|6.08 0.613|0.613 0.17597|0.17597 Zinc finger, RING/FYVE/PHD-type (1);|. 0.393637|. 0.28130|. N|. 0.016488|. T|T 0.43055|0.43055 0.1230|0.1230 L|L 0.41356|0.41356 1.27|1.27 0.38421|0.38421 D|D 0.946177|0.946177 B;B;B|. 0.31209|. 0.031;0.313;0.071|. B;B;B|. 0.38500|. 0.051;0.275;0.089|. T|T 0.25710|0.25710 -1.0124|-1.0124 10|5 0.20519|. T|. 0.43|. -30.4149|-30.4149 4.3144|4.3144 0.10986|0.10986 0.1997:0.1045:0.579:0.1168|0.1997:0.1045:0.579:0.1168 .|. 257;472;513|. B3KUN7;Q496Y0-2;Q496Y0|. .;.;LONF3_HUMAN|. S|V 472;472;513;257|278 ENSP00000360691:A472S;ENSP00000307732:A472S;ENSP00000360690:A513S;ENSP00000408894:A257S|. ENSP00000307732:A472S|. A|G +|+ 1|2 0|0 LONRF3|LONRF3 118027123|118027123 1.000000|1.000000 0.71417|0.71417 0.986000|0.986000 0.45419|0.45419 0.947000|0.947000 0.59692|0.59692 3.533000|3.533000 0.53561|0.53561 0.022000|0.022000 0.15160|0.15160 0.600000|0.600000 0.82982|0.82982 GCA|GGC LONRF3-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355124.2 + ENST00000371628.3 Missense_Mutation SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN SH3D21 79729 broad.mit.edu 37 1 36786147 36786147 + Missense_Mutation SNP T T C TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr1:36786147T>C ENST00000505871.1 + 11.0 1714 c.1550T>C c.(1549-1551)gTg>gCg p.V517A SH3D21_ENST00000453908.2_Missense_Mutation_p.V628A|SH3D21_ENST00000312808.4_Missense_Mutation_p.V274A|SH3D21_ENST00000426732.2_Missense_Mutation_p.V512A|SH3D21_ENST00000474766.1_3'UTR A4FU49 SH321_HUMAN SH3 domain containing 21 512.0 extracellular vesicular exosome (GO:0070062) endometrium(1)|large_intestine(6)|lung(4)|pancreas(1) 12.0 AAAGAGGAGGTGACCCTGAAA 0.562 0 48.0 58.0 54.0 1 36786147.0 2203.0 4300.0 6503.0 SO:0001583 missense AK056459 CCDS30674.1, CCDS30674.2 1p34.3 2011-02-21 2011-02-21 2011-02-21 ENSG00000214193 ENSG00000214193 79729.0 79729.0 26236.0 protein-coding gene gene with protein product """chromosome 1 open reading frame 113""" C1orf113 12477932 Standard NM_024676 NM_024676 Approved FLJ22938 uc010oia.1 A4FU49 OTTHUMG00000007868 ENST00000505871.1:c.1550T>C 1.__UNKNOWN__:g.36786147T>C ENSP00000421294:p.Val517Ala B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5 __UNKNOWN__ CCDS30674.2 . . . . . . . . . . T 11.98 1.799840 0.31869 . . ENSG00000214193 ENST00000453908;ENST00000426732;ENST00000312808;ENST00000505871 T;T;T;T 0.46063 1.44;1.77;0.88;1.77 1.36 -2.71 0.05986 . . . . . T 0.24275 0.0588 L 0.46157 1.445 0.09310 N 1 B;P 0.36222 0.007;0.544 B;B 0.23716 0.001;0.048 T 0.06427 -1.0827 9 0.30078 T 0.28 . 3.7521 0.08570 0.0:0.3657:0.1983:0.4359 . 517;512 A4FU49-3;A4FU49 .;SH321_HUMAN A 628;512;274;517 ENSP00000403476:V628A;ENSP00000408613:V512A;ENSP00000321936:V274A;ENSP00000421294:V517A ENSP00000321936:V274A V + 2 0 SH3D21 36558734 0.043000 0.20138 0.000000 0.03702 0.001000 0.01503 0.460000 0.21924 -1.337000 0.02236 -0.371000 0.07208 GTG SH3D21-005 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000359558.1 + ENST00000505871.1 Missense_Mutation SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN CDC27 996 broad.mit.edu 37 17 45219308 45219308 + Silent SNP A A G TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr17:45219308A>G ENST00000531206.1 - 12.0 1483 c.1480T>C c.(1480-1482)Ttg>Ctg p.L494L CDC27_ENST00000066544.3_Silent_p.L488L|CDC27_ENST00000446365.2_Silent_p.L427L|CDC27_ENST00000527547.1_Silent_p.L487L P30260 CDC27_HUMAN cell division cycle 27 488.0 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) protein phosphatase binding (GO:0019903) 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) 90.0 AGATGGCTCAAAATATTTATA 0.383 0 112.0 118.0 116.0 17 45219308.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant U00001 CCDS11509.1, CCDS45720.1, CCDS74090.1 17q21.32 2013-01-17 2013-01-17 ENSG00000004897 ENSG00000004897 996.0 996.0 """Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing""" 1728.0 protein-coding gene gene with protein product """anaphase promoting complex subunit 3""" 116946.0 """cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)""" D0S1430E, D17S978E 8234252 Standard XM_005257892 Approved APC3, ANAPC3, NUC2 uc002ile.4 P30260 OTTHUMG00000166429 ENST00000531206.1:c.1480T>C 17.__UNKNOWN__:g.45219308A>G G3V1C4|Q16349|Q96F35 __UNKNOWN__ CCDS45720.1 CDC27-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389745.1 - ENST00000531206.1 Silent SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN POTEC 388468 broad.mit.edu 37 18 14542654 14542654 + Silent SNP C C A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr18:14542654C>A ENST00000358970.5 - 1.0 491 c.492G>T c.(490-492)acG>acT p.T164T POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 164.0 p.T164T(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52.0 TGTTCATGTCCGTGTCCCTGA 0.592 2 Substitution - coding silent(2) lung(1)|kidney(1) 260.0 241.0 247.0 18 14542654.0 692.0 1591.0 2283.0 SO:0001819 synonymous_variant BX649118 CCDS45835.1 18p11.21 2013-01-10 2008-11-26 2008-11-26 ENSG00000183206 ENSG00000183206 388468.0 388468.0 """POTE ankyrin domain containing"", ""Ankyrin repeat domain containing""" 33894.0 protein-coding gene gene with protein product """cancer/testis antigen family 104, member 6""" """ANKRD26-like family B, member 2""" A26B2 Standard XM_496269 NM_001137671 Approved POTE18, POTE-18, DKFZp686J0529, CT104.6 uc010dln.3 B2RU33 OTTHUMG00000162963 ENST00000358970.5:c.492G>T 18.__UNKNOWN__:g.14542654C>A __UNKNOWN__ CCDS45835.1 POTEC-002 KNOWN not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000371179.1 - ENST00000358970.5 Silent SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN FAM53B 9679 broad.mit.edu 37 10 126370689 126370689 + Missense_Mutation SNP C C G TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr10:126370689C>G ENST00000280780.6 - 4.0 823 c.393G>C c.(391-393)agG>agC p.R131S FAM53B_ENST00000392754.3_Missense_Mutation_p.R131S|FAM53B_ENST00000337318.3_Missense_Mutation_p.R131S|RP11-12J10.3_ENST00000494792.1_3'UTR Q14153 FA53B_HUMAN family with sequence similarity 53, member B 131.0 cervix(1)|lung(5)|ovary(2)|pancreas(1) 9.0 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) AGCCCAAGGGCCTCCATGATG 0.612 0 29.0 26.0 27.0 10 126370689.0 2203.0 4300.0 6503.0 SO:0001583 missense D50930 CCDS7641.1 10q26.13 2004-11-24 2004-11-24 2004-11-24 ENSG00000189319 ENSG00000189319 9679.0 9679.0 28968.0 protein-coding gene gene with protein product """KIAA0140""" KIAA0140 8590280 Standard NM_014661 NM_014661 Approved bA12J10.2 uc001lhv.1 Q14153 OTTHUMG00000019215 ENST00000280780.6:c.393G>C 10.__UNKNOWN__:g.126370689C>G ENSP00000280780:p.Arg131Ser D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6 __UNKNOWN__ . . . . . . . . . . C 18.59 3.657101 0.67586 . . ENSG00000189319 ENST00000337318;ENST00000392754;ENST00000280780 T;T;T 0.61510 0.1;0.1;0.1 4.98 3.09 0.35607 . 0.000000 0.85682 D 0.000000 T 0.67813 0.2933 M 0.73598 2.24 0.46901 D 0.999244 D;D;D 0.63880 0.993;0.993;0.993 D;D;D 0.65773 0.91;0.938;0.91 T 0.67300 -0.5705 10 0.87932 D 0 -5.2425 3.627 0.08117 0.0:0.5094:0.1951:0.2955 . 131;131;131 Q14153-2;Q14153;B3KMZ2 .;FA53B_HUMAN;. S 131 ENSP00000338532:R131S;ENSP00000376509:R131S;ENSP00000280780:R131S ENSP00000280780:R131S R - 3 2 FAM53B 126360679 0.921000 0.31238 1.000000 0.80357 0.992000 0.81027 0.071000 0.14594 0.777000 0.33496 0.655000 0.94253 AGG FAM53B-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000050881.1 - ENST00000280780.6 Missense_Mutation SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN KRT3 3850 broad.mit.edu 37 12 53189646 53189646 + Missense_Mutation SNP C C T TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr12:53189646C>T ENST00000417996.2 - 1.0 255 c.181G>A c.(181-183)Ggc>Agc p.G61S KRT3_ENST00000309505.3_Missense_Mutation_p.G61S NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 61.0 Gly-rich.|Head. epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104) extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23.0 TTGTTGCCGCCCAGGTTGTAG 0.667 0 79.0 102.0 95.0 12 53189646.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS44895.1 12q13.13 2013-01-16 ENSG00000186442 ENSG00000186442 3850.0 3850.0 """-"", ""Intermediate filaments type II, keratins (basic)""" 6440.0 protein-coding gene gene with protein product """keratin, type II cytoskeletal 3"", ""cytokeratin 3""" 148043.0 7510223, 16831889 Standard NM_057088 NM_057088 Approved CK3, K3 uc001say.3 P12035 OTTHUMG00000169799 ENST00000417996.2:c.181G>A 12.__UNKNOWN__:g.53189646C>T ENSP00000413479:p.Gly61Ser A6NIS2|Q701L8 __UNKNOWN__ CCDS44895.1 . . . . . . . . . . c 17.87 3.494505 0.64186 . . ENSG00000186442 ENST00000417996;ENST00000309505 D;D 0.91843 -2.92;-2.92 5.16 5.16 0.70880 . 0.000000 0.47455 D 0.000225 D 0.93019 0.7778 M 0.65320 2 0.37011 D 0.895739 D 0.56968 0.978 P 0.51297 0.665 D 0.94870 0.8029 10 0.62326 D 0.03 . 15.4475 0.75243 0.1392:0.8608:0.0:0.0 . 61 P12035 K2C3_HUMAN S 61 ENSP00000413479:G61S;ENSP00000312206:G61S ENSP00000312206:G61S G - 1 0 KRT3 51475913 0.999000 0.42202 1.000000 0.80357 0.985000 0.73830 3.788000 0.55446 2.575000 0.86900 0.555000 0.69702 GGC KRT3-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000405930.1 - ENST00000417996.2 Missense_Mutation SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN RMDN1 51115 broad.mit.edu 37 8 87498786 87498786 + Missense_Mutation SNP A A G TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr8:87498786A>G ENST00000406452.3 - 4.0 581 c.422T>C c.(421-423)cTa>cCa p.L141P RMDN1_ENST00000519966.1_Missense_Mutation_p.L141P|RMDN1_ENST00000430676.2_Missense_Mutation_p.L141P|RMDN1_ENST00000523911.1_Missense_Mutation_p.L97P|CPNE3_ENST00000198765.4_Intron NM_016033.2 NP_057117.2 Q96DB5 RMD1_HUMAN regulator of microtubule dynamics 1 141.0 microtubule (GO:0005874)|mitochondrion (GO:0005739) ATACACCAATAGCTTTTTCTC 0.398 0 138.0 120.0 126.0 8 87498786.0 2203.0 4300.0 6503.0 SO:0001583 missense AK000672 CCDS34918.1, CCDS69509.1, CCDS69510.1 8q21.3 2013-01-11 2013-01-11 2013-01-11 ENSG00000176623 ENSG00000176623 51115.0 51115.0 24285.0 protein-coding gene gene with protein product 611871.0 """family with sequence similarity 82, member B""" FAM82B 10810093 Standard NM_016033 NM_016033 Approved CGI-90, FLJ20665, RMD1 uc003ydu.3 Q96DB5 OTTHUMG00000163692 ENST00000406452.3:c.422T>C 8.__UNKNOWN__:g.87498786A>G ENSP00000385927:p.Leu141Pro A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398 __UNKNOWN__ CCDS34918.1 . . . . . . . . . . A 10.80 1.453868 0.26161 . . ENSG00000176623 ENST00000406452;ENST00000523911;ENST00000519966;ENST00000430676;ENST00000520719 T;T;T;T;T 0.45668 0.89;0.89;0.89;0.89;0.89 5.88 -1.6 0.08426 Tetratricopeptide-like helical (1); 0.651344 0.15537 N 0.257162 T 0.19805 0.0476 N 0.19112 0.55 0.09310 N 1 B;B;B 0.34264 0.446;0.007;0.007 B;B;B 0.33750 0.169;0.009;0.009 T 0.10800 -1.0614 10 0.30854 T 0.27 0.9952 2.5391 0.04722 0.2054:0.387:0.0788:0.3288 . 141;141;141 B4DZW6;E7EVI2;Q96DB5 .;.;RMD1_HUMAN P 141;97;141;141;5 ENSP00000385927:L141P;ENSP00000429899:L97P;ENSP00000428661:L141P;ENSP00000409661:L141P;ENSP00000428360:L5P ENSP00000385927:L141P L - 2 0 FAM82B 87567902 0.478000 0.25917 0.004000 0.12327 0.955000 0.61496 0.597000 0.24059 -0.076000 0.12775 0.528000 0.53228 CTA RMDN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374770.2 - ENST00000406452.3 Missense_Mutation SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN ITGA10 8515 broad.mit.edu 37 1 145538808 145538808 + Splice_Site SNP G G A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr1:145538808G>A ENST00000369304.3 + 24.0 3094 c.2919G>A c.(2917-2919)agG>agA p.R973R ITGA10_ENST00000538811.1_Splice_Site_p.R842R|ITGA10_ENST00000539363.1_Splice_Site_p.R830R NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 973.0 axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229) integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886) collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872) p.R973S(1) 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) 59.0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCACTCTCAGGGTGAGAAGCT 0.522 1 Substitution - Missense(1) lung(1) 43.0 41.0 41.0 1 145538808.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AF074015 CCDS72869.1 1q21.1 2010-03-23 ENSG00000143127 ENSG00000143127 8515.0 8515.0 """Integrins""" 6135.0 protein-coding gene gene with protein product 604042.0 9685391, 10702680 Standard NM_003637 NM_003637 Approved uc001eoa.3 O75578 OTTHUMG00000013751 ENST00000369304.3:c.2919+1G>A 1.__UNKNOWN__:g.145538808G>A B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8 __UNKNOWN__ CCDS918.1 ITGA10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000038537.2 Silent + ENST00000369304.3 Splice_Site SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN ERVFRD-1 0 broad.mit.edu 37 6 11105081 11105081 + Nonsense_Mutation SNP G G A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr6:11105081G>A ENST00000472091.1 - 2.0 838 c.463C>T c.(463-465)Caa>Taa p.Q155* SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Nonsense_Mutation_p.Q155* NM_207582.2 NP_997465.1 P60508 SYCY2_HUMAN endogenous retrovirus group FRD, member 1 155.0 syncytium formation (GO:0006949) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1) 15.0 TAAGTCTGTTGGTTAGAATCT 0.393 0 160.0 173.0 169.0 6 11105081.0 2201.0 4300.0 6501.0 SO:0001587 stop_gained AK075092, AK123938, AY358244 CCDS4519.1 6p24.2 2014-05-02 ENSG00000244476 ENSG00000244476 405754.0 405754.0 33823.0 other endogenous retrovirus 610524.0 12970426, 14557543, 15476554, 21542922 Standard NM_207582 NM_207582 Approved HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2 uc003mzt.3 P60508 OTTHUMG00000159193 ENST00000472091.1:c.463C>T 6.__UNKNOWN__:g.11105081G>A ENSP00000420174:p.Gln155* __UNKNOWN__ CCDS4519.1 . . . . . . . . . . G 37 6.083291 0.97267 . . ENSG00000244476 ENST00000472091;ENST00000542862 . . . 0.235 0.235 0.15431 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . 0.05959 T 0.93 . . . . . . . . X 155 . ENSP00000420174:Q155X Q - 1 0 ERVFRD-1 11213067 0.401000 0.25303 0.709000 0.30452 0.709000 0.40893 0.364000 0.20325 0.308000 0.22923 0.313000 0.20887 CAA ERVFRD-1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353776.1 - ENST00000472091.1 Nonsense_Mutation SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN CACNA1D 776 broad.mit.edu 37 3 53839013 53839013 + Silent SNP A A G TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr3:53839013A>G ENST00000422281.2 + 43.0 5517 c.5517A>G c.(5515-5517)caA>caG p.Q1839Q CACNA1D_ENST00000350061.5_Silent_p.Q1863Q|CACNA1D_ENST00000544977.1_Silent_p.Q242Q|CACNA1D_ENST00000288139.4_Silent_p.Q1883Q NM_001128839.1 NP_001122311.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1863.0 adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281) plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018) alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059) 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) 90.0 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) Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661) CCTCCAGGCAAAACTATGGCT 0.552 0 84.0 82.0 82.0 3 53839013.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB209171 CCDS2872.1, CCDS46848.1, CCDS46849.1 3p14.3 2012-03-07 ENSG00000157388 ENSG00000157388 776.0 776.0 """Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels""" 1391.0 protein-coding gene gene with protein product 114206.0 CCHL1A2, CACNL1A2 1664412 Standard NM_000720 NM_000720 Approved Cav1.3, CACH3, CACN4 uc003dgu.5 Q01668 OTTHUMG00000158278 ENST00000422281.2:c.5517A>G 3.__UNKNOWN__:g.53839013A>G B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3 __UNKNOWN__ CCDS46849.1 CACNA1D-002 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000350556.1 + ENST00000422281.2 Silent SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN PCMTD2 55251 broad.mit.edu 37 20 62904858 62904858 + Missense_Mutation SNP C C T TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr20:62904858C>T ENST00000308824.6 + 6.0 1118 c.991C>T c.(991-993)Cca>Tca p.P331S PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000266078.7_3'UTR|PCMTD2_ENST00000609372.1_Missense_Mutation_p.P181S|PCMTD2_ENST00000369758.4_Missense_Mutation_p.P304S NM_018257.2 NP_060727.2 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 331.0 cytoplasm (GO:0005737) protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1) 17.0 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GGAAACAAAGCCAGACCCCCC 0.507 0 90.0 117.0 108.0 20 62904858.0 2202.0 4299.0 6501.0 SO:0001583 missense AK001745 CCDS13559.1, CCDS46631.1 20q13.33 2012-10-02 2005-10-06 2005-10-06 ENSG00000203880 ENSG00000203880 55251.0 55251.0 15882.0 protein-coding gene gene with protein product """chromosome 20 open reading frame 36""" C20orf36 Standard NM_018257 NM_018257 Approved FLJ10883 uc002yil.4 Q9NV79 OTTHUMG00000033029 ENST00000308824.6:c.991C>T 20.__UNKNOWN__:g.62904858C>T ENSP00000307854:p.Pro331Ser E1P5H3|Q8IW60|Q9H4K2 __UNKNOWN__ CCDS13559.1 . . . . . . . . . . . 20.2 3.955520 0.73902 . . ENSG00000203880 ENST00000369758;ENST00000308824;ENST00000266078 T;T;T 0.46063 0.88;1.54;0.88 5.17 5.17 0.71159 . 0.113318 0.64402 D 0.000013 T 0.51483 0.1677 L 0.47716 1.5 0.49798 D 0.999824 D;P 0.55385 0.971;0.888 P;P 0.52957 0.714;0.537 T 0.52609 -0.8553 10 0.54805 T 0.06 -13.6418 18.6781 0.91535 0.0:1.0:0.0:0.0 . 304;331 Q9NV79-2;Q9NV79 .;PCMD2_HUMAN S 304;331;107 ENSP00000358773:P304S;ENSP00000307854:P331S;ENSP00000266078:P107S ENSP00000266078:P107S P + 1 0 PCMTD2 62375302 1.000000 0.71417 0.781000 0.31783 0.920000 0.55202 2.449000 0.44935 2.406000 0.81754 0.655000 0.94253 CCA PCMTD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080301.1 + ENST00000308824.6 Missense_Mutation SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN KCNB1 3745 broad.mit.edu 37 20 47991070 47991070 + Missense_Mutation SNP T T C TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr20:47991070T>C ENST00000371741.4 - 2.0 1193 c.1027A>G c.(1027-1029)Atg>Gtg p.M343V NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 343.0 energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271) 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) 53.0 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Dalfampridine(DB06637) GAGAAGATCATAATGCCCATG 0.537 0 59.0 56.0 57.0 20 47991070.0 2203.0 4300.0 6503.0 SO:0001583 missense AF026005 CCDS13418.1 20q13.2 2012-07-05 ENSG00000158445 ENSG00000158445 3745.0 3745.0 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels""" 6231.0 protein-coding gene gene with protein product 600397.0 7774931, 16382104 Standard NM_004975 NM_004975 Approved Kv2.1 uc002xur.1 Q14721 OTTHUMG00000033051 ENST00000371741.4:c.1027A>G 20.__UNKNOWN__:g.47991070T>C ENSP00000360806:p.Met343Val Q14193 __UNKNOWN__ CCDS13418.1 . . . . . . . . . . T 13.59 2.281325 0.40394 . . ENSG00000158445 ENST00000371741;ENST00000538812 D 0.98345 -4.88 5.93 5.93 0.95920 Ion transport (1); 0.126818 0.64402 D 0.000001 D 0.93923 0.8055 N 0.01081 -1.03 0.80722 D 1 P 0.37370 0.592 P 0.44447 0.45 D 0.95246 0.8355 10 0.54805 T 0.06 . 16.0388 0.80650 0.0:0.0:0.0:1.0 . 343 Q14721 KCNB1_HUMAN V 343;298 ENSP00000360806:M343V ENSP00000360806:M343V M - 1 0 KCNB1 47424477 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 8.040000 0.89188 2.270000 0.75569 0.533000 0.62120 ATG KCNB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080374.3 - ENST00000371741.4 Missense_Mutation SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN MUC5B 727897 broad.mit.edu 37 11 1270623 1270623 + Silent SNP C C A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr11:1270623C>A ENST00000529681.1 + 31.0 12571 c.12513C>A c.(12511-12513)ggC>ggA p.G4171G RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.G4174G NM_002458.2 NP_002449.2 Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4171.0 7 X Cys-rich subdomain repeats.|Thr-rich. cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137.0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AGCCCCTGGGCCTCGAGTGCC 0.682 0 19.0 26.0 24.0 11 1270623.0 1835.0 4061.0 5896.0 SO:0001819 synonymous_variant U95031, AF086604 CCDS44515.1, CCDS44515.2 11p15.5 2007-01-19 2006-03-14 ENSG00000117983 727897.0 727897.0 """Mucins""" 7516.0 protein-coding gene gene with protein product 600770.0 """mucin 5, subtype B, tracheobronchial""" MUC5 9804771 Standard XM_001126093 NM_002458 Approved MG1 uc001lta.3 Q9HC84 ENST00000529681.1:c.12513C>A 11.__UNKNOWN__:g.1270623C>A O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28 __UNKNOWN__ CCDS44515.2 MUC5B-002 NOVEL basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000390041.2 + ENST00000529681.1 Silent SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN C16orf71 146562 broad.mit.edu 37 16 4787829 4787829 + Missense_Mutation SNP T T A rs141702834 TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr16:4787829T>A ENST00000590191.1 + 3.0 428 c.158T>A c.(157-159)aTc>aAc p.I53N RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000299320.5_Missense_Mutation_p.I53N Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 53.0 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11.0 GAGCTGTTCATCTTCCAGCGA 0.602 0 85.0 82.0 83.0 16 4787829.0 2197.0 4300.0 6497.0 SO:0001583 missense AF447587 CCDS10521.1 16p13.3 2008-02-05 ENSG00000166246 ENSG00000166246 146562.0 146562.0 25081.0 protein-coding gene gene with protein product 12477932 Standard NM_139170 XM_005255144 Approved FLJ43261, DKFZp686H2240 uc002cxn.3 Q8IYS4 OTTHUMG00000129480 ENST00000590191.1:c.158T>A 16.__UNKNOWN__:g.4787829T>A ENSP00000467565:p.Ile53Asn Q8NCV0 __UNKNOWN__ . . . . . . . . . . T 22.2 4.262804 0.80358 . . ENSG00000166246 ENST00000299320 T 0.13538 2.58 4.51 4.51 0.55191 . 0.000000 0.42821 D 0.000648 T 0.31358 0.0794 L 0.58101 1.795 0.34355 D 0.690259 D 0.89917 1.0 D 0.72075 0.976 T 0.45308 -0.9270 10 0.87932 D 0 -8.0223 12.0246 0.53362 0.0:0.0:0.0:1.0 . 53 Q8IYS4 CP071_HUMAN N 53 ENSP00000299320:I53N ENSP00000299320:I53N I + 2 0 C16orf71 4727830 1.000000 0.71417 1.000000 0.80357 0.963000 0.63663 4.192000 0.58378 2.050000 0.60909 0.529000 0.55759 ATC C16orf71-006 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000460400.1 + ENST00000590191.1 Missense_Mutation SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN RP11-483E23.2 0 broad.mit.edu 37 15 28600002 28600002 + RNA SNP T T A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr15:28600002T>A ENST00000568624.1 - 0.0 404 TTCGTATGGTTTGAACCTGGG 0.493 0 ENST00000568624.1: 15.__UNKNOWN__:g.28600002T>A __UNKNOWN__ . . . . . . . . . . . 5.336 0.247398 0.10130 . . ENSG00000237850 ENST00000454724;ENST00000424531 . . . . . . . . . . . T 0.14270 0.0345 . . . . . . B 0.11235 0.004 B 0.01281 0.0 T 0.23476 -1.0187 4 0.18276 T 0.48 . . . . . 112 B4DY83 . H 118;116 . ENSP00000393266:Q116H Q - 3 2 AC091304.2 26273597 0.988000 0.35896 0.117000 0.21633 0.118000 0.20060 -1.015000 0.03637 -2.183000 0.00763 -2.300000 0.00261 CAA RP11-483E23.2-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000431212.1 - ENST00000568624.1 RNA SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN GPR50 9248 broad.mit.edu 37 X 150345211 150345211 + Silent SNP G G A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chrX:150345211G>A ENST00000218316.3 + 1.0 87 c.18G>A c.(16-18)gcG>gcA p.A6A GPR50-AS1_ENST00000454196.1_RNA NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 6.0 cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186) integral component of plasma membrane (GO:0005887) G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502) breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38.0 Acute lymphoblastic leukemia(192;6.56e-05) CCACCCTAGCGGTTCCCACCC 0.557 0 67.0 70.0 69.0 X 150345211.0 1931.0 4111.0 6042.0 SO:0001819 synonymous_variant U52219 CCDS44012.1 Xq28 2012-08-21 ENSG00000102195 ENSG00000102195 9248.0 9248.0 """GPCR / Class A : Orphans""" 4506.0 protein-coding gene gene with protein product 300207.0 9933574, 18400093 Standard NM_004224 NM_004224 Approved H9, Mel1c uc010ntg.2 Q13585 OTTHUMG00000024166 ENST00000218316.3:c.18G>A X.__UNKNOWN__:g.150345211G>A Q0VGG3|Q3ZAR0 __UNKNOWN__ CCDS44012.1 GPR50-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060874.1 + ENST00000218316.3 Silent SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN CACHD1 57685 broad.mit.edu 37 1 65124466 65124466 + Missense_Mutation SNP A A C TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr1:65124466A>C ENST00000290039.5 + 13.0 1814 c.1708A>C c.(1708-1710)Act>Cct p.T570P CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000371073.2_Missense_Mutation_p.T621P NM_020925.2 NP_065976.2 Q5VU97 CAHD1_HUMAN cache domain containing 1 621.0 calcium ion transport (GO:0006816) integral component of membrane (GO:0016021) breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55.0 GAACCTCAACACTGTTCCCAG 0.463 0 73.0 68.0 70.0 1 65124466.0 2203.0 4299.0 6502.0 SO:0001583 missense AB046793 CCDS628.2 1p31.3 2008-02-05 2005-10-11 2005-10-11 ENSG00000158966 ENSG00000158966 57685.0 57685.0 29314.0 protein-coding gene gene with protein product """von Willebrand factor type A and cache domain containing 1""" VWCD1 10997877 Standard NM_020925 NM_020925 Approved KIAA1573 uc001dbo.1 Q5VU97 OTTHUMG00000009030 ENST00000290039.5:c.1708A>C 1.__UNKNOWN__:g.65124466A>C ENSP00000290039:p.Thr570Pro Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9 __UNKNOWN__ CCDS628.2 . . . . . . . . . . A 16.36 3.101865 0.56183 . . ENSG00000158966 ENST00000371073;ENST00000290039 T;T 0.24538 1.85;1.85 5.61 5.61 0.85477 . 0.000000 0.85682 D 0.000000 T 0.18045 0.0433 N 0.20685 0.6 0.80722 D 1 D 0.65815 0.995 P 0.56278 0.795 T 0.05386 -1.0888 10 0.23302 T 0.38 -23.8506 15.7982 0.78428 1.0:0.0:0.0:0.0 . 621 Q5VU97 CAHD1_HUMAN P 621;570 ENSP00000360113:T621P;ENSP00000290039:T570P ENSP00000290039:T570P T + 1 0 CACHD1 64897054 1.000000 0.71417 0.996000 0.52242 0.862000 0.49288 8.923000 0.92808 2.132000 0.65825 0.533000 0.62120 ACT CACHD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000025238.1 + ENST00000290039.5 Missense_Mutation SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN TMCO4 255104 broad.mit.edu 37 1 20067293 20067293 + Missense_Mutation SNP G G A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr1:20067293G>A ENST00000294543.6 - 11.0 1260 c.1019C>T c.(1018-1020)gCc>gTc p.A340V TMCO4_ENST00000375127.1_Missense_Mutation_p.A340V|TMCO4_ENST00000375122.2_Missense_Mutation_p.A300V NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 340.0 integral component of membrane (GO:0016021) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19.0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) GTACTTTAGGGCCTCCTGGGC 0.577 0 101.0 101.0 101.0 1 20067293.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS198.1 1p36.13 2008-02-05 ENSG00000162542 ENSG00000162542 255104.0 255104.0 27393.0 protein-coding gene gene with protein product Standard NM_181719 NM_181719 Approved DKFZp686C23231 uc001bcn.3 Q5TGY1 OTTHUMG00000002697 ENST00000294543.6:c.1019C>T 1.__UNKNOWN__:g.20067293G>A ENSP00000294543:p.Ala340Val Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1 __UNKNOWN__ CCDS198.1 . . . . . . . . . . G 14.09 2.432568 0.43224 . . ENSG00000162542 ENST00000294543;ENST00000375127;ENST00000375122 T;T;T 0.38401 1.14;1.14;1.14 5.35 5.35 0.76521 . 0.000000 0.85682 D 0.000000 T 0.27524 0.0676 N 0.14661 0.345 0.54753 D 0.999989 B 0.25486 0.127 B 0.35859 0.212 T 0.09037 -1.0693 10 0.14252 T 0.57 -13.4052 16.5542 0.84481 0.0:0.0:1.0:0.0 . 340 Q5TGY1 TMCO4_HUMAN V 340;340;300 ENSP00000294543:A340V;ENSP00000364269:A340V;ENSP00000364264:A300V ENSP00000294543:A340V A - 2 0 TMCO4 19939880 1.000000 0.71417 0.998000 0.56505 0.603000 0.37013 9.114000 0.94329 2.506000 0.84524 0.655000 0.94253 GCC TMCO4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007658.1 - ENST00000294543.6 Missense_Mutation SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN F8 2157 broad.mit.edu 37 X 154159643 154159643 + Missense_Mutation SNP C C T TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chrX:154159643C>T ENST00000360256.4 - 14.0 2622 c.2422G>A c.(2422-2424)Gat>Aat p.D808N NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 808.0 B. acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576) extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093) copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252) 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) 120.0 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) Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) ATCAACAAATCACTAGAGGAG 0.413 0 231.0 213.0 219.0 X 154159643.0 2203.0 4299.0 6502.0 SO:0001583 missense M90707 CCDS35457.1, CCDS44026.1 Xq28 2014-09-17 2008-07-29 ENSG00000185010 ENSG00000185010 2157.0 2157.0 3546.0 protein-coding gene gene with protein product """Factor VIIIF8B"", ""hemophilia A""" 300841.0 F8C 6438528, 3935400 Standard NM_000132 Approved FVIII, DXS1253E, HEMA uc004fmt.3 P00451 OTTHUMG00000022688 ENST00000360256.4:c.2422G>A X.__UNKNOWN__:g.154159643C>T ENSP00000353393:p.Asp808Asn Q14286|Q5HY69 __UNKNOWN__ CCDS35457.1 . . . . . . . . . . C 6.320 0.427156 0.11987 . . ENSG00000185010 ENST00000360256 D 0.99252 -5.63 5.32 4.42 0.53409 . 0.985888 0.08306 N 0.966177 D 0.98077 0.9366 M 0.67953 2.075 0.09310 N 1 B 0.17852 0.024 B 0.15052 0.012 D 0.93593 0.6923 10 0.11485 T 0.65 -9.1674 12.2242 0.54451 0.0:0.8341:0.1659:0.0 . 808 P00451 FA8_HUMAN N 808 ENSP00000353393:D808N ENSP00000353393:D808N D - 1 0 F8 153812837 0.032000 0.19561 0.086000 0.20670 0.094000 0.18550 0.990000 0.29642 2.227000 0.72691 0.422000 0.28245 GAT F8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058869.4 - ENST00000360256.4 Missense_Mutation SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN KIAA1984 84960 broad.mit.edu 37 9 139694454 139694455 + Splice_Site INS - - AAGA TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr9:139694454_139694455insAAGA ENST00000338005.6 + 4.0 306_307 c.271_272insAAGA c.(271-273)gtg>gAAGAtg p.V91fs KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.17_ENST00000456614.2_Splice_Site_p.V121fs|RP11-216L13.19_ENST00000415992.1_RNA NM_001039374.4 NP_001034463.4 Q5T5S1 CC183_HUMAN 91.0 biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 13.0 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124) CCCGACCCAGGTGGTGCGGGAG 0.688 0 1,3731 0,1,1865 3.9 0.8 dbSNP_126 19.0 31,7837 2,27,3905 no frameshift-near-splice KIAA1984 NM_001039374.4 2,28,5770 A1A1,A1R,RR 0.394,0.0268,0.2759 32,11568 SO:0001630 splice_region_variant ENST00000338005.6:c.271-1->AAGA 9.__UNKNOWN__:g.139694454_139694455insAAGA B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18 __UNKNOWN__ CCDS43906.1 KIAA1984-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000354899.1 Frame_Shift_Ins + ENST00000338005.6 Splice_Site INS PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN Unknown 729009 bcgsc.ca 37 2 181737698 181737698 + RNA SNP C C A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr2:181737698C>A AC009478.1 (180517 upstream) : AC104076.3 (106455 downstream) ACGTGGTCACCCAATTCTTTG 0.478 0 SO:0001628 intergenic_variant 2.__UNKNOWN__:g.181737698C>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN Unknown 0 bcgsc.ca 37 8 56962967 56962967 + RNA SNP A A G TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr8:56962967A>G RN7SL323P (28095 upstream) : RPS20 (16886 downstream) CAGAGTATCAAATCCATCCAT 0.403 0 SO:0001628 intergenic_variant 8.__UNKNOWN__:g.56962967A>G __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN BSND 7809 ucsc.edu 37 1 55472929 55472929 + Missense_Mutation SNP A A T TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr1:55472929A>T ENST00000371265.4 + 3.0 786 c.532A>T c.(532-534)Act>Tct p.T178S NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN barttin CLCNK-type chloride channel accessory beta subunit 178.0 ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234) chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17.0 AAGACGCCTAACTCAGAGCTG 0.622 Ovarian(191;1657 2078 22894 42033 48899) 0 72.0 65.0 67.0 1 55472929.0 2203.0 4300.0 6503.0 SO:0001583 missense AY034632 CCDS602.1 1p32.3 2014-06-17 2014-06-17 ENSG00000162399 ENSG00000162399 7809.0 7809.0 16512.0 protein-coding gene gene with protein product 606412 """deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)""" DFNB73 11687798, 11734858, 19646679 Standard NM_057176 NM_057176 Approved BART uc001cye.3 Q8WZ55 OTTHUMG00000008112 ENST00000371265.4:c.532A>T 1.__UNKNOWN__:g.55472929A>T ENSP00000360312:p.Thr178Ser Q6NT28 __UNKNOWN__ CCDS602.1 . . . . . . . . . . A 2.403 -0.337081 0.05278 . . ENSG00000162399 ENST00000371265 T 0.62639 0.01 3.89 -3.9 0.04181 . 0.930785 0.08954 N 0.869625 T 0.25606 0.0623 N 0.04355 -0.22 0.09310 N 1 B 0.13145 0.007 B 0.06405 0.002 T 0.25257 -1.0137 10 0.06099 T 0.92 -0.2451 1.1035 0.01689 0.2373:0.154:0.3725:0.2362 . 178 Q8WZ55 BSND_HUMAN S 178 ENSP00000360312:T178S ENSP00000360312:T178S T + 1 0 BSND 55245517 0.000000 0.05858 0.004000 0.12327 0.043000 0.13939 -0.616000 0.05591 -0.736000 0.04831 0.391000 0.25812 ACT BSND-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000022213.4 + ENST00000371265.4 Missense_Mutation SNP PCPG-TCGA-PR-A5PG-Normal-SM-5EQGN ZNF574 64763 broad.mit.edu 37 19 42584207 42584207 + Silent SNP G G A TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr19:42584207G>A ENST00000600245.1 + 2.0 2104 c.1449G>A c.(1447-1449)cgG>cgA p.R483R CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Silent_p.R573R|ZNF574_ENST00000359044.4_Silent_p.R483R Q6ZN55 ZN574_HUMAN zinc finger protein 574 483.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20.0 Prostate(69;0.059) AGCTGACCCGGCACCAACGTT 0.597 0 74.0 83.0 80.0 19 42584207.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK074788 CCDS12596.1 19q13.2 2013-09-20 ENSG00000105732 ENSG00000105732 64763.0 64763.0 """Zinc fingers, C2H2-type""" 26166.0 protein-coding gene gene with protein product 12477932 Standard NM_022752 NM_022752 Approved FLJ22059 uc002osm.4 Q6ZN55 OTTHUMG00000182751 ENST00000600245.1:c.1449G>A 19.__UNKNOWN__:g.42584207G>A Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0 __UNKNOWN__ CCDS12596.1 ZNF574-002 KNOWN upstream_uORF|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463458.1 + ENST00000600245.1 Silent SNP PCPG-TCGA-PR-A5PH-Normal-SM-5EQH1 MYLK 4638 broad.mit.edu 37 3 123383036 123383036 + Missense_Mutation SNP G G A TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr3:123383036G>A ENST00000475616.1 - 20.0 3900 c.3901C>T c.(3901-3903)Cgc>Tgc p.R1301C MYLK_ENST00000360772.3_Missense_Mutation_p.R1301C|MYLK_ENST00000354792.5_Missense_Mutation_p.R101C|MYLK_ENST00000359169.1_Missense_Mutation_p.R1301C|MYLK_ENST00000360304.3_Missense_Mutation_p.R1301C|MYLK_ENST00000346322.5_Missense_Mutation_p.R1232C Q15746 MYLK_HUMAN myosin light chain kinase 1301.0 Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8. actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820) cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687) 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) 113.0 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGCTCCTGGCGCGCGGCCAGG 0.627 0 G CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG 1,4405 2.1+/-5.4 0,1,2202 137.0 131.0 133.0 3901,3694,3901,3694 2.8 0.7 3 133.0 0,8600 0,0,4300 no missense,missense,missense,missense MYLK NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3 180,180,180,180 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 probably-damaging,probably-damaging,probably-damaging,probably-damaging 1301/1915,1232/1846,1301/1864,1232/1795 123383036.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense X85337 CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1 3q21 2013-02-11 2008-01-23 ENSG00000065534 ENSG00000065534 4638.0 4638.0 2.7.11.18 """Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 7590.0 protein-coding gene gene with protein product """smooth muscle myosin light chain kinase""" 600922.0 """myosin, light polypeptide kinase""" 8575746 Standard NM_053025 NM_053026 Approved MLCK, smMLCK, MYLK1, MLCK1 uc003ego.3 Q15746 OTTHUMG00000141304 ENST00000475616.1:c.3901C>T 3.__UNKNOWN__:g.123383036G>A ENSP00000418335:p.Arg1301Cys B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9 __UNKNOWN__ CCDS46896.1 . . . . . . . . . . G 13.19 2.163382 0.38217 2.27E-4 0.0 ENSG00000065534 ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616;ENST00000508240 T;T;T;T;T;T;T 0.68025 -0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3 4.86 2.82 0.32997 Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); . . . . T 0.68997 0.3062 L 0.36672 1.1 0.42021 D 0.990989 D;D;D;D;D 0.76494 0.998;0.998;0.997;0.998;0.999 P;D;P;P;D 0.65233 0.854;0.933;0.873;0.864;0.91 T 0.68708 -0.5337 9 0.54805 T 0.06 . 8.9629 0.35858 0.0919:0.0:0.7154:0.1927 . 1301;1232;1301;1232;1301 Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746 .;.;.;.;MYLK_HUMAN C 1301;1301;1301;1232;101;1301;101 ENSP00000354004:R1301C;ENSP00000353452:R1301C;ENSP00000352088:R1301C;ENSP00000320622:R1232C;ENSP00000346846:R101C;ENSP00000418335:R1301C;ENSP00000422984:R101C ENSP00000320622:R1232C R - 1 0 MYLK 124865726 0.571000 0.26659 0.739000 0.30968 0.887000 0.51463 0.646000 0.24797 1.056000 0.40484 0.655000 0.94253 CGC MYLK-004 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356464.1 - ENST00000475616.1 Missense_Mutation SNP PCPG-TCGA-PR-A5PH-Normal-SM-5EQH1 ATP13A4 84239 broad.mit.edu 37 3 193183900 193183900 + Missense_Mutation SNP T T C TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr3:193183900T>C ENST00000342695.4 - 11.0 1508 c.1186A>G c.(1186-1188)Agg>Ggg p.R396G ATP13A4_ENST00000392443.3_Missense_Mutation_p.R396G|ATP13A4_ENST00000295548.3_Missense_Mutation_p.R396G NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 396.0 integral component of membrane (GO:0016021) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872) 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) 71.0 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) ATGGCATCCCTGTACAACTGA 0.478 0 263.0 242.0 249.0 3 193183900.0 2203.0 4300.0 6503.0 SO:0001583 missense AK095277 CCDS3304.2 3q29 2010-04-20 ENSG00000127249 ENSG00000127249 84239.0 84239.0 """ATPases / P-type""" 25422.0 protein-coding gene gene with protein product 609556.0 14702039, 12975309 Standard NM_032279 XM_005247829 Approved DKFZp761I1011, FLJ37958 uc003ftd.3 Q4VNC1 OTTHUMG00000074067 ENST00000342695.4:c.1186A>G 3.__UNKNOWN__:g.193183900T>C ENSP00000339182:p.Arg396Gly B7WPC7|Q6UY23|Q8N1Q9|Q9H043 __UNKNOWN__ CCDS3304.2 . . . . . . . . . . T 19.85 3.903594 0.72754 . . ENSG00000127249 ENST00000392443;ENST00000342695;ENST00000295548 D;D;D 0.91464 -2.85;-2.85;-2.85 5.85 4.66 0.58398 ATPase, P-type, ATPase-associated domain (1); 0.000000 0.85682 D 0.000000 D 0.92328 0.7566 M 0.89414 3.03 0.46981 D 0.999277 P;B;P 0.40553 0.721;0.426;0.494 B;B;B 0.43155 0.281;0.381;0.41 D 0.91601 0.5295 10 0.59425 D 0.04 -27.0704 11.2104 0.48795 0.0:0.0:0.2936:0.7064 . 396;396;396 Q4VNC1-3;Q4VNC1-2;Q4VNC1 .;.;AT134_HUMAN G 396 ENSP00000376238:R396G;ENSP00000339182:R396G;ENSP00000295548:R396G ENSP00000295548:R396G R - 1 2 ATP13A4 194666594 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 5.014000 0.64029 1.009000 0.39289 0.533000 0.62120 AGG ATP13A4-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000157244.4 - ENST00000342695.4 Missense_Mutation SNP PCPG-TCGA-PR-A5PH-Normal-SM-5EQH1 ACTR1B 10120 broad.mit.edu 37 2 98275013 98275013 + Silent SNP G G A TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr2:98275013G>A ENST00000289228.5 - 6.0 750 c.534C>T c.(532-534)caC>caT p.H178H NM_005735.3 NP_005726.1 P42025 ACTY_HUMAN ARP1 actin-related protein 1 homolog B, centractin beta (yeast) 178.0 antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) ATP binding (GO:0005524) endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 15.0 GCATGATGGAGTGAGGCATGG 0.602 0 172.0 150.0 157.0 2 98275013.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X82207 CCDS2033.1 2q11.1-q11.2 2008-05-20 2001-11-28 ENSG00000115073 ENSG00000115073 10120.0 10120.0 168.0 protein-coding gene gene with protein product 605144.0 """ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)""" CTRN2 7696711, 10343100 Standard NM_005735 NM_005735 Approved uc002syb.2 P42025 OTTHUMG00000130549 ENST00000289228.5:c.534C>T 2.__UNKNOWN__:g.98275013G>A D3DVH2|Q53SK5|Q9BRB7 __UNKNOWN__ CCDS2033.1 ACTR1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252973.1 - ENST00000289228.5 Silent SNP PCPG-TCGA-PR-A5PH-Normal-SM-5EQH1 FAM105B 90268 broad.mit.edu 37 5 14690382 14690382 + Missense_Mutation SNP C C G TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr5:14690382C>G ENST00000284274.4 + 6.0 907 c.829C>G c.(829-831)Ctc>Gtc p.L277V NM_138348.4 NP_612357.4 Q96BN8 OTUL_HUMAN 277.0 OTU. canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040) cytoplasm (GO:0005737)|LUBAC complex (GO:0071797) cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843) breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 14.0 Lung NSC(4;0.00696) GAGGAACCACCTCAACCAGGT 0.423 0 67.0 64.0 65.0 5 14690382.0 1930.0 4145.0 6075.0 SO:0001583 missense ENST00000284274.4:c.829C>G 5.__UNKNOWN__:g.14690382C>G ENSP00000284274:p.Leu277Val D3DTD3|Q8NAS0|Q96IA3 __UNKNOWN__ CCDS43302.1 . . . . . . . . . . C 20.8 4.048607 0.75846 . . ENSG00000154124 ENST00000284274 T 0.19394 2.15 6.07 4.08 0.47627 . 0.000000 0.85682 D 0.000000 T 0.42471 0.1204 M 0.78049 2.395 0.51233 D 0.999919 D 0.89917 1.0 D 0.83275 0.996 T 0.32025 -0.9922 9 . . . -12.4511 7.2649 0.26224 0.0:0.668:0.0:0.332 . 277 Q96BN8 F105B_HUMAN V 277 ENSP00000284274:L277V . L + 1 0 FAM105B 14743382 1.000000 0.71417 0.908000 0.35775 0.951000 0.60555 2.585000 0.46111 1.585000 0.49928 0.655000 0.94253 CTC FAM105B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000366012.1 + ENST00000284274.4 Missense_Mutation SNP PCPG-TCGA-PR-A5PH-Normal-SM-5EQH1 MERTK 10461 broad.mit.edu 37 2 112755020 112755020 + Missense_Mutation SNP C C T TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr2:112755020C>T ENST00000295408.4 + 10.0 1828 c.1571C>T c.(1570-1572)gCc>gTc p.A524V MERTK_ENST00000421804.2_Missense_Mutation_p.A524V|MERTK_ENST00000409780.1_Missense_Mutation_p.A348V Q12866 MERTK_HUMAN MER proto-oncogene, tyrosine kinase 524.0 apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) 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) 46.0 ATCTCCTTGGCCATCAGAAAA 0.433 0 108.0 97.0 101.0 2 112755020.0 2203.0 4300.0 6503.0 SO:0001583 missense U08023 CCDS2094.1 2q14.1 2014-06-26 2014-06-26 ENSG00000153208 ENSG00000153208 10461.0 10461.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 7027.0 protein-coding gene gene with protein product 604705.0 """c-mer proto-oncogene tyrosine kinase""" 8086340, 10343112 Standard XM_005263565 Approved mer, RP38 uc002thk.1 Q12866 OTTHUMG00000131278 ENST00000295408.4:c.1571C>T 2.__UNKNOWN__:g.112755020C>T ENSP00000295408:p.Ala524Val Q9HBB4 __UNKNOWN__ CCDS2094.1 . . . . . . . . . . C 0.084 -1.179040 0.01633 . . ENSG00000153208 ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780 T;T;T 0.73469 -0.75;-0.75;-0.74 5.84 4.01 0.46588 . 0.249863 0.20639 N 0.088433 T 0.56124 0.1964 N 0.20685 0.6 0.27182 N 0.96064 B 0.02656 0.0 B 0.06405 0.002 T 0.41395 -0.9511 10 0.22706 T 0.39 -17.8574 8.6435 0.33991 0.0:0.8179:0.0:0.1821 . 524 Q12866 MERTK_HUMAN V 524;524;166;348 ENSP00000295408:A524V;ENSP00000389152:A524V;ENSP00000387277:A348V ENSP00000295408:A524V A + 2 0 MERTK 112471491 1.000000 0.71417 0.999000 0.59377 0.069000 0.16628 1.495000 0.35627 0.883000 0.36040 0.637000 0.83480 GCC MERTK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254046.2 + ENST00000295408.4 Missense_Mutation SNP PCPG-TCGA-PR-A5PH-Normal-SM-5EQH1 DOCK9 23348 broad.mit.edu 37 13 99538837 99538837 + Silent SNP G G A TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr13:99538837G>A ENST00000376460.1 - 19.0 2165 c.2085C>T c.(2083-2085)agC>agT p.S695S DOCK9_ENST00000448493.2_Silent_p.S707S|DOCK9_ENST00000442173.1_Silent_p.S695S|DOCK9_ENST00000339416.2_Silent_p.S696S NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 696.0 DHR-1. blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) 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) 59.0 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGCAAAGGCGCTTCTTGTGA 0.383 0 77.0 76.0 76.0 13 99538837.0 1853.0 4096.0 5949.0 SO:0001819 synonymous_variant AF527605 CCDS45062.1 13q32.3 2013-01-10 ENSG00000088387 ENSG00000088387 23348.0 23348.0 """Pleckstrin homology (PH) domain containing""" 14132.0 protein-coding gene gene with protein product """zizimin1""" 607325.0 12172552, 12432077 Standard NM_015296 NM_015296 Approved KIAA1058, ZIZ1 uc001vnt.2 Q9BZ29 OTTHUMG00000017260 ENST00000376460.1:c.2085C>T 13.__UNKNOWN__:g.99538837G>A B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4 __UNKNOWN__ CCDS45062.1 DOCK9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045566.1 - ENST00000376460.1 Silent SNP PCPG-TCGA-PR-A5PH-Normal-SM-5EQH1 LMNA 4000 broad.mit.edu 37 1 156106111 156106111 + Nonsense_Mutation SNP G G T TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr1:156106111G>T ENST00000368300.4 + 7.0 1476 c.1264G>T c.(1264-1266)Gag>Tag p.E422* LMNA_ENST00000448611.2_Nonsense_Mutation_p.E310*|LMNA_ENST00000392353.3_Nonsense_Mutation_p.E341*|LMNA_ENST00000368297.1_Nonsense_Mutation_p.E341*|LMNA_ENST00000368301.2_Nonsense_Mutation_p.E422*|LMNA_ENST00000361308.4_Nonsense_Mutation_p.E422*|LMNA_ENST00000368299.3_Nonsense_Mutation_p.E422*|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000473598.2_Nonsense_Mutation_p.E323*|LMNA_ENST00000347559.2_Nonsense_Mutation_p.E422* NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 422.0 Tail. activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) structural molecule activity (GO:0005198) NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10.0 Hepatocellular(266;0.158) GCGCAAACTGGAGTCCACTGA 0.657 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 0 50.0 53.0 52.0 1 156106111.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained Familial Cancer Database WS, Adult Progeria;HGPS, Progeria BC014507 CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1 1q22 2014-09-17 ENSG00000160789 ENSG00000160789 4000.0 4000.0 """Intermediate filaments type V, lamins""" 6636.0 protein-coding gene gene with protein product 150330.0 """cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1""" LMN1, CMD1A, LGMD1B, PRO1, LMNL1 8511676, 8838815, 12702809 Standard NM_170707 NM_005572 Approved HGPS uc001fni.3 P02545 OTTHUMG00000013961 ENST00000368300.4:c.1264G>T 1.__UNKNOWN__:g.156106111G>T ENSP00000357283:p.Glu422* B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2 __UNKNOWN__ CCDS1129.1 . . . . . . . . . . G 24.4 4.527053 0.85706 . . ENSG00000160789 ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355;ENST00000448611;ENST00000368297;ENST00000473598;ENST00000392353;ENST00000508500 . . . 5.74 5.74 0.90152 . 0.198435 0.33127 N 0.005256 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.48119 T 0.1 . 17.4233 0.87520 0.0:0.0:1.0:0.0 . . . . X 422;422;422;422;422;422;422;310;341;323;341;48 . ENSP00000292302:E422X E + 1 0 LMNA 154372735 1.000000 0.71417 0.999000 0.59377 0.118000 0.20060 6.716000 0.74702 2.695000 0.91970 0.655000 0.94253 GAG LMNA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039200.2 + ENST00000368300.4 Nonsense_Mutation SNP PCPG-TCGA-PR-A5PH-Normal-SM-5EQH1 PTPN13 0 broad.mit.edu 37 4 87701607 87701607 + Missense_Mutation SNP A A G TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr4:87701607A>G ENST00000511467.1 + 35.0 5964 c.5959A>G c.(5959-5961)Aag>Gag p.K1987E PTPN13_ENST00000316707.6_Missense_Mutation_p.K1791E|PTPN13_ENST00000427191.2_Missense_Mutation_p.K1963E|PTPN13_ENST00000411767.2_Missense_Mutation_p.K1982E|PTPN13_ENST00000436978.1_Missense_Mutation_p.K1987E Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1982.0 peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470) cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886) protein tyrosine phosphatase activity (GO:0004725) 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) 93.0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TTCAGCTCCAAAGTCAaccaa 0.403 0 71.0 69.0 70.0 4 87701607.0 1885.0 4110.0 5995.0 SO:0001583 missense CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1 4q21.3 2011-06-09 ENSG00000163629 ENSG00000163629 5783.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor""" 9646.0 protein-coding gene gene with protein product 600267.0 8287977 Standard NM_006264 Approved PTP1E, PTP-BAS, PTPL1, PTP-BL uc003hpy.3 Q12923 OTTHUMG00000160968 ENST00000511467.1:c.5959A>G 4.__UNKNOWN__:g.87701607A>G ENSP00000426626:p.Lys1987Glu B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8 __UNKNOWN__ CCDS47093.1 . . . . . . . . . . A 10.61 1.398709 0.25205 . . ENSG00000163629 ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349 T;T;T;T;T 0.52057 0.68;0.71;0.78;0.68;0.71 5.16 -1.48 0.08745 . 0.815284 0.10462 N 0.671874 T 0.36580 0.0972 L 0.53249 1.67 0.09310 N 1 B;B;B;B 0.06786 0.0;0.001;0.001;0.001 B;B;B;B 0.09377 0.002;0.004;0.002;0.004 T 0.27673 -1.0067 10 0.36615 T 0.2 . 4.8017 0.13299 0.4857:0.1643:0.35:0.0 . 1791;1963;1982;1987 Q12923-2;Q12923-3;Q12923;Q12923-4 .;.;PTN13_HUMAN;. E 1963;1987;1791;1982;1987;1931 ENSP00000408368:K1963E;ENSP00000394794:K1987E;ENSP00000322675:K1791E;ENSP00000407249:K1982E;ENSP00000426626:K1987E ENSP00000322675:K1791E K + 1 0 PTPN13 87920631 0.000000 0.05858 0.001000 0.08648 0.858000 0.48976 -0.547000 0.06055 -0.480000 0.06803 0.477000 0.44152 AAG PTPN13-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000363193.1 + ENST00000511467.1 Missense_Mutation SNP PCPG-TCGA-PR-A5PH-Normal-SM-5EQH1 CDKN2C 1031 broad.mit.edu 37 1 51439844 51439844 + Missense_Mutation SNP G G A TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr1:51439844G>A ENST00000262662.1 + 4.0 2443 c.409G>A c.(409-411)Ggg>Agg p.G137R CDKN2C_ENST00000396148.1_Missense_Mutation_p.G137R|CDKN2C_ENST00000371761.3_Missense_Mutation_p.G137R P42773 CDN2C_HUMAN cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) 137.0 cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901) p.0?(11)|p.?(1) central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1) 23.0 GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151) GAACCATAAGGGGGACACCGC 0.577 D """glioma, MM""" Melanoma(47;50 1155 4767 22863 47597) Rec yes 1 1p32 1031.0 """cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)""" """O, L""" 12 Whole gene deletion(11)|Unknown(1) central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1) 54.0 58.0 56.0 1 51439844.0 2203.0 4300.0 6503.0 SO:0001583 missense BC000598 CCDS555.1 1p32.3 2013-01-10 ENSG00000123080 ENSG00000123080 1031.0 1031.0 """Ankyrin repeat domain containing""" 1789.0 protein-coding gene gene with protein product 603369.0 8001816, 9636670 Standard NM_001262 NM_001262 Approved INK4C, p18 uc001csg.3 P42773 OTTHUMG00000008046 ENST00000262662.1:c.409G>A 1.__UNKNOWN__:g.51439844G>A ENSP00000262662:p.Gly137Arg Q8TB83 __UNKNOWN__ CCDS555.1 . . . . . . . . . . G 32 5.128289 0.94473 . . ENSG00000123080 ENST00000262662;ENST00000396148;ENST00000371761 T;T;T 0.71579 -0.58;-0.58;-0.58 5.83 5.83 0.93111 Ankyrin repeat-containing domain (3); 0.000000 0.85682 D 0.000000 T 0.78830 0.4345 L 0.29908 0.895 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.79841 -0.1633 10 0.66056 D 0.02 -10.3359 20.1338 0.98010 0.0:0.0:1.0:0.0 . 137 P42773 CDN2C_HUMAN R 137 ENSP00000262662:G137R;ENSP00000379452:G137R;ENSP00000360826:G137R ENSP00000262662:G137R G + 1 0 CDKN2C 51212432 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 8.317000 0.89987 2.770000 0.95276 0.655000 0.94253 GGG CDKN2C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000022058.1 + ENST00000262662.1 Missense_Mutation SNP PCPG-TCGA-PR-A5PH-Normal-SM-5EQH1 OR8J3 81168 broad.mit.edu 37 11 55904696 55904696 + Missense_Mutation SNP A A G TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr11:55904696A>G ENST00000301529.1 - 1.0 498 c.499T>C c.(499-501)Tct>Cct p.S167P NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 167.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59.0 Esophageal squamous(21;0.00693) GAGCAATAAGACACAGAGAAT 0.413 0 91.0 89.0 90.0 11 55904696.0 2201.0 4296.0 6497.0 SO:0001583 missense CCDS31520.1 11q12.2 2012-08-09 ENSG00000167822 ENSG00000167822 81168.0 81168.0 """GPCR / Class A : Olfactory receptors""" 15312.0 protein-coding gene gene with protein product Standard NM_001004064 NM_001004064 Approved uc010riz.2 Q8NGG0 OTTHUMG00000166834 ENST00000301529.1:c.499T>C 11.__UNKNOWN__:g.55904696A>G ENSP00000301529:p.Ser167Pro Q6IFB6|Q96RC2 __UNKNOWN__ CCDS31520.1 . . . . . . . . . . A 12.12 1.843530 0.32606 . . ENSG00000167822 ENST00000301529 T 0.36699 1.24 3.26 -0.942 0.10398 GPCR, rhodopsin-like superfamily (1); 0.192468 0.37715 N 0.001966 T 0.33265 0.0857 L 0.28400 0.85 0.09310 N 1 D 0.54397 0.966 P 0.62885 0.908 T 0.16837 -1.0389 10 0.59425 D 0.04 . 0.9624 0.01398 0.359:0.3153:0.171:0.1548 . 167 Q8NGG0 OR8J3_HUMAN P 167 ENSP00000301529:S167P ENSP00000301529:S167P S - 1 0 OR8J3 55661272 0.000000 0.05858 0.099000 0.21106 0.761000 0.43186 -1.434000 0.02425 -0.124000 0.11724 0.240000 0.17902 TCT OR8J3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000391542.1 - ENST00000301529.1 Missense_Mutation SNP PCPG-TCGA-PR-A5PH-Normal-SM-5EQH1 SLC46A1 113235 broad.mit.edu 37 17 26731690 26731690 + Missense_Mutation SNP T T C TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr17:26731690T>C ENST00000584729.1 - 0.0 1120 SLC46A1_ENST00000321666.5_Missense_Mutation_p.N342S|SLC46A1_ENST00000440501.1_Missense_Mutation_p.N342S Q96NT5 PCFT_HUMAN solute carrier family 46 (folate transporter), member 1 cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350) lung(5) 5.0 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795) CCCCAGGATGTTGAAGGCCAG 0.597 0 47.0 48.0 48.0 17 26731690.0 2044.0 4192.0 6236.0 SO:0001623 5_prime_UTR_variant AK054669 CCDS74019.1, CCDS74020.1 17q11.2 2014-09-17 2007-09-24 ENSG00000076351 113235.0 113235.0 """Solute carriers""" 30521.0 protein-coding gene gene with protein product """heme carrier protein 1"", ""proton-coupled folate transporter""" 611672.0 """solute carrier family 46, member 1""" 16143108, 17129779 Standard NM_080669 XM_005277786 Approved HCP1, MGC9564, PCFT uc002hbf.2 Q96NT5 ENST00000584729.1:c.-5254A>G 17.__UNKNOWN__:g.26731690T>C Q1HE20|Q86T92|Q8TEG3|Q96FL0 __UNKNOWN__ . . . . . . . . . . T 9.505 1.104189 0.20632 . . ENSG00000076351 ENST00000440501;ENST00000321666 T;T 0.79653 -1.29;-1.29 5.05 5.05 0.67936 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.000000 0.85682 D 0.000000 T 0.77003 0.4067 . . . 0.58432 D 0.999997 B;P;P 0.45126 0.049;0.663;0.851 B;B;P 0.45474 0.069;0.243;0.482 T 0.74087 -0.3778 9 0.20519 T 0.43 -18.6636 14.8039 0.69938 0.0:0.0:0.0:1.0 . 342;342;342 B4DJ17;Q96NT5-2;Q96NT5 .;.;PCFT_HUMAN S 342 ENSP00000395653:N342S;ENSP00000318828:N342S ENSP00000318828:N342S N - 2 0 SLC46A1 23755817 1.000000 0.71417 1.000000 0.80357 0.850000 0.48378 5.904000 0.69886 1.898000 0.54952 0.460000 0.39030 AAC SLC46A1-001 KNOWN sequence_error|basic processed_transcript protein_coding OTTHUMT00000446167.1 - ENST00000584729.1 5'UTR SNP PCPG-TCGA-PR-A5PH-Normal-SM-5EQH1 DGUOK 1716 broad.mit.edu 37 2 74154050 74154050 + Missense_Mutation SNP C C T TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr2:74154050C>T ENST00000264093.4 + 1.0 98 c.13C>T c.(13-15)Cgc>Tgc p.R5C DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000356837.6_Missense_Mutation_p.R5C|DGUOK_ENST00000348222.1_Missense_Mutation_p.R5C NM_080916.2 NP_550438.1 Q16854 DGUOK_HUMAN deoxyguanosine kinase 5.0 deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634) ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206) endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 8.0 Nelarabine(DB01280) GGCCGCGGGCCGCCTCTTTCT 0.657 0 45.0 42.0 43.0 2 74154050.0 2203.0 4300.0 6503.0 SO:0001583 missense U41668 CCDS1931.1, CCDS1932.1 2p13 2008-02-05 ENSG00000114956 ENSG00000114956 1716.0 1716.0 2.7.1.113 2858.0 protein-coding gene gene with protein product 601465.0 Standard NM_080916 Approved dGK uc002sjx.3 Q16854 OTTHUMG00000129819 ENST00000264093.4:c.13C>T 2.__UNKNOWN__:g.74154050C>T ENSP00000264093:p.Arg5Cys P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1 __UNKNOWN__ CCDS1931.1 . . . . . . . . . . C 19.13 3.766906 0.69878 . . ENSG00000114956 ENST00000264093;ENST00000348222;ENST00000356837;ENST00000347161 D;D;D 0.99574 -5.48;-4.94;-6.2 4.3 -1.26 0.09376 . 0.000000 0.64402 D 0.000009 D 0.98479 0.9493 M 0.67953 2.075 0.09310 N 1 D;D 0.64830 0.994;0.99 P;P 0.47744 0.556;0.556 D 0.96664 0.9491 10 0.87932 D 0 -6.3541 3.298 0.06973 0.5251:0.252:0.1315:0.0914 . 5;5 E5KSL6;Q16854 .;DGUOK_HUMAN C 5 ENSP00000264093:R5C;ENSP00000306964:R5C;ENSP00000349294:R5C ENSP00000264093:R5C R + 1 0 DGUOK 74007558 0.000000 0.05858 0.000000 0.03702 0.269000 0.26545 0.087000 0.14958 -0.256000 0.09473 0.655000 0.94253 CGC DGUOK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252050.1 + ENST00000264093.4 Missense_Mutation SNP PCPG-TCGA-PR-A5PH-Normal-SM-5EQH1 Unknown 646309 bcgsc.ca 37 10 36812805 36812805 + Missense_Mutation SNP G G A TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr10:36812805G>A NAMPTL (482 upstream) : Y_RNA (102137 downstream) TAACACTCTGGATCTGTGTTT 0.398 0 SO:0001628 intergenic_variant 10.__UNKNOWN__:g.36812805G>A __UNKNOWN__ . . . . . . . . . . g 11.66 1.706085 0.30232 . . ENSG00000229644 ENST00000440465 T 0.26518 1.73 1.63 1.63 0.23807 . 0.216005 0.48767 D 0.000161 T 0.30823 0.0777 . . . 0.80722 D 1 . . . . . . T 0.04178 -1.0971 7 0.37606 T 0.19 -13.9093 8.9776 0.35946 0.0:0.0:1.0:0.0 . . . . S 120 ENSP00000407952:P120S ENSP00000407952:P120S P - 1 0 NAMPTL 36852811 1.000000 0.71417 0.887000 0.34795 0.934000 0.57294 6.512000 0.73737 0.965000 0.38133 0.271000 0.19318 CCA 0.0 IGR SNP PCPG-TCGA-PR-A5PH-Normal-SM-5EQH1 Unknown 0 bcgsc.ca 37 4 65297023 65297023 + RNA SNP A A G TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr4:65297023A>G TECRL (21837 upstream) : RP11-707A18.1 (482975 downstream) GGAGGGAATCACCACCTATTT 0.532 0 SO:0001628 intergenic_variant 4.__UNKNOWN__:g.65297023A>G __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-PR-A5PH-Normal-SM-5EQH1 MTX3 345778 ucsc.edu 37 5 79285002 79285002 + Silent SNP G G A TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr5:79285002G>A ENST00000512528.1 - 4.0 314 c.294C>T c.(292-294)ctC>ctT p.L98L MTX3_ENST00000512560.1_Silent_p.L37L|MTX3_ENST00000509852.1_Silent_p.L98L Q5HYI7 MTX3_HUMAN metaxin 3 98.0 protein targeting to mitochondrion (GO:0006626) mitochondrial outer membrane (GO:0005741) endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1) 7.0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35) TCTCTTCGAGGAGAGCAATAT 0.343 0 59.0 57.0 57.0 5 79285002.0 1831.0 4090.0 5921.0 SO:0001819 synonymous_variant BX538064 CCDS47239.1, CCDS47239.2, CCDS54872.1 5q14.1 2004-08-18 ENSG00000177034 345778.0 345778.0 24812.0 protein-coding gene gene with protein product 15087125 Standard XM_293971 NM_001010891 Approved uc010jah.3 Q5HYI7 ENST00000512528.1:c.294C>T 5.__UNKNOWN__:g.79285002G>A B4DL65|E9PB57|Q7Z380|Q8NB92 __UNKNOWN__ MTX3-005 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000372567.1 - ENST00000512528.1 Silent SNP PCPG-TCGA-PR-A5PH-Normal-SM-5EQH1 XKR6 286046 ucsc.edu 37 8 10755795 10755795 + Silent SNP A A G TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr8:10755795A>G ENST00000416569.2 - 3.0 1619 c.1593T>C c.(1591-1593)ccT>ccC p.P531P XKR6_ENST00000304437.2_Silent_p.P252P NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 531.0 integral component of membrane (GO:0016021) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31.0 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CAGGGATCTCAGGCGCCATGG 0.607 0 46.0 37.0 40.0 8 10755795.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC024146 CCDS5978.2 8p23.1 2009-05-27 2006-01-12 2005-07-28 ENSG00000171044 ENSG00000171044 286046.0 286046.0 27806.0 protein-coding gene gene with protein product """chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5""" C8orf7, C8orf21, C8orf5 Standard NM_173683 NM_173683 Approved uc003wtk.1 Q5GH73 OTTHUMG00000129351 ENST00000416569.2:c.1593T>C 8.__UNKNOWN__:g.10755795A>G Q8TBA0 __UNKNOWN__ CCDS5978.2 . . . . . . . . . . A 3.124 -0.179957 0.06380 . . ENSG00000171044 ENST00000382461 . . . 4.78 2.36 0.29203 . . . . . T 0.45216 0.1331 . . . 0.80722 D 1 . . . . . . T 0.27606 -1.0069 4 . . . -14.7533 2.4798 0.04584 0.4526:0.0:0.1958:0.3516 . . . . P 308 . . L - 2 0 XKR6 10793205 0.999000 0.42202 0.998000 0.56505 0.832000 0.47134 0.638000 0.24674 0.322000 0.23283 0.459000 0.35465 CTG XKR6-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000383958.1 - ENST00000416569.2 Silent SNP PCPG-TCGA-PR-A5PH-Normal-SM-5EQH1 ZNF696 79943 ucsc.edu 37 8 144378444 144378444 + Missense_Mutation SNP A A G TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr8:144378444A>G ENST00000330143.3 + 3.0 1008 c.599A>G c.(598-600)cAg>cGg p.Q200R NM_030895.2 NP_112157.2 Q9H7X3 ZN696_HUMAN zinc finger protein 696 200.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 8.0 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) CTCCGGCACCAGCGCGTGCAC 0.736 0 14.0 15.0 15.0 8 144378444.0 2194.0 4286.0 6480.0 SO:0001583 missense AK024191 CCDS6399.1 8q24.3 2013-01-08 ENSG00000185730 79943.0 79943.0 """Zinc fingers, C2H2-type""" 25872.0 protein-coding gene gene with protein product Standard NM_030895 NM_030895 Approved FLJ14129 uc003yxy.4 Q9H7X3 ENST00000330143.3:c.599A>G 8.__UNKNOWN__:g.144378444A>G ENSP00000328515:p.Gln200Arg A0AVE2 __UNKNOWN__ CCDS6399.1 . . . . . . . . . . A 16.59 3.165498 0.57476 . . ENSG00000185730 ENST00000518575;ENST00000330143 T;T 0.29142 1.58;2.26 3.09 3.09 0.35607 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.19967 0.0480 N 0.12471 0.22 0.46167 D 0.998905 P 0.42483 0.781 P 0.45343 0.477 T 0.02743 -1.1116 8 . . . . 9.5197 0.39126 1.0:0.0:0.0:0.0 . 200 Q9H7X3 ZN696_HUMAN R 200 ENSP00000427857:Q200R;ENSP00000328515:Q200R . Q + 2 0 ZNF696 144449819 0.000000 0.05858 0.241000 0.24154 0.012000 0.07955 -0.206000 0.09398 1.404000 0.46819 0.450000 0.29827 CAG ZNF696-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381164.2 + ENST00000330143.3 Missense_Mutation SNP PCPG-TCGA-PR-A5PH-Normal-SM-5EQH1 ASPH 444 broad.mit.edu 37 8 62596684 62596684 + Missense_Mutation SNP G G A rs149440176 TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr8:62596684G>A ENST00000379454.4 - 2.0 354 c.167C>T c.(166-168)aCg>aTg p.T56M ASPH_ENST00000379449.6_Missense_Mutation_p.T56M|ASPH_ENST00000518068.1_Missense_Mutation_p.T56M|ASPH_ENST00000541428.1_Missense_Mutation_p.T27M|ASPH_ENST00000517847.2_Missense_Mutation_p.T27M|ASPH_ENST00000522835.1_Missense_Mutation_p.T27M|ASPH_ENST00000517661.1_Missense_Mutation_p.T27M|ASPH_ENST00000356457.5_Missense_Mutation_p.T56M|ASPH_ENST00000517903.1_Missense_Mutation_p.T27M|ASPH_ENST00000445642.3_Missense_Mutation_p.T27M|ASPH_ENST00000389204.4_Missense_Mutation_p.T27M|ASPH_ENST00000522603.1_Missense_Mutation_p.T27M|ASPH_ENST00000517856.1_Missense_Mutation_p.T56M NM_004318.3 NP_004309.2 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 56.0 activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198) calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017) calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198) breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35.0 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CATAAACCACGTGAAGAATGA 0.403 0 G MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR 0,4406 0,0,2203 173.0 150.0 158.0 80,80,80,80,167,167,167,167,80,167,80,80 6.1 1.0 8 dbSNP_134 158.0 1,8599 1.2+/-3.3 0,1,4299 no missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense ASPH NM_001164750.1,NM_001164751.1,NM_001164752.1,NM_001164753.1,NM_001164754.1,NM_001164755.1,NM_001164756.1,NM_004318.3,NM_020164.4,NM_032466.3,NM_032467.3,NM_032468.4 81,81,81,81,81,81,81,81,81,81,81,81 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging 27/730,27/299,27/280,27/257,56/295,56/271,56/204,56/759,27/226,56/314,27/211,27/300 62596684.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AF224468 CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1 8q12.1 2008-02-05 ENSG00000198363 ENSG00000198363 444.0 444.0 1.14.11.16 757.0 protein-coding gene gene with protein product """junctin"", ""humbug"", ""junctate""" 600582.0 7821814, 10974562 Standard NM_004318 NM_004318 Approved CASQ2BP1, BAH, JCTN, HAAH uc003xuj.3 Q12797 OTTHUMG00000164375 ENST00000379454.4:c.167C>T 8.__UNKNOWN__:g.62596684G>A ENSP00000368767:p.Thr56Met A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0 __UNKNOWN__ CCDS34898.1 . . . . . . . . . . G 27.6 4.845199 0.91197 0.0 1.16E-4 ENSG00000198363 ENST00000389213;ENST00000541428;ENST00000379454;ENST00000522349;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835;ENST00000518306;ENST00000517856;ENST00000389204;ENST00000522603;ENST00000379449;ENST00000517661 T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.63580 -0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05 6.07 6.07 0.98685 Aspartyl beta-hydroxylase/Triadin domain (1); 0.000000 0.85682 D 0.000000 T 0.79251 0.4414 L 0.61218 1.895 0.80722 D 1 D;D;D;D;D;D;D;D;D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D;D;D;D;D;D;D;D;D 0.97110 0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0 T 0.78846 -0.2043 10 0.87932 D 0 -15.3117 20.6593 0.99626 0.0:0.0:1.0:0.0 . 27;27;56;27;27;27;27;56;56;56;56;56;27;56 Q12797-4;Q12797-3;B8Y0L3;B4DIC9;B7ZM95;B7ZM96;F5H667;E5RG56;Q6NXR7;F8W7A9;Q8TB28;Q12797-2;Q9H291;Q12797 .;.;.;.;.;.;.;.;.;.;.;.;.;ASPH_HUMAN M 56;27;56;27;56;56;56;27;27;27;27;27;56;27;27;56;27 ENSP00000437864:T27M;ENSP00000368767:T56M;ENSP00000429718:T27M;ENSP00000348841:T56M;ENSP00000427823:T56M;ENSP00000429286:T56M;ENSP00000430245:T27M;ENSP00000394013:T27M;ENSP00000429954:T27M;ENSP00000429160:T27M;ENSP00000427877:T27M;ENSP00000429743:T56M;ENSP00000373856:T27M;ENSP00000436188:T27M;ENSP00000368762:T56M;ENSP00000428060:T27M ENSP00000348841:T56M T - 2 0 ASPH 62759238 1.000000 0.71417 0.971000 0.41717 0.833000 0.47200 9.242000 0.95408 2.885000 0.99019 0.655000 0.94253 ACG ASPH-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000378510.3 - ENST00000379454.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GO-Normal-SM-5EQHC TP63 8626 broad.mit.edu 37 3 189582120 189582120 + Missense_Mutation SNP G G A TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr3:189582120G>A ENST00000354600.5 + 3.0 538 c.397G>A c.(397-399)Gcc>Acc p.A133T TP63_ENST00000456148.1_Missense_Mutation_p.A133T|TP63_ENST00000382063.4_Missense_Mutation_p.A142T|TP63_ENST00000437221.1_Missense_Mutation_p.A133T|TP63_ENST00000440651.2_Missense_Mutation_p.A227T|TP63_ENST00000418709.2_Missense_Mutation_p.A227T|TP63_ENST00000392461.3_Missense_Mutation_p.A133T|TP63_ENST00000392460.3_Missense_Mutation_p.A227T|TP63_ENST00000449992.1_Missense_Mutation_p.A48T|TP63_ENST00000320472.5_Missense_Mutation_p.A227T|TP63_ENST00000264731.3_Missense_Mutation_p.A227T|TP63_ENST00000392463.2_Missense_Mutation_p.A133T NM_001114980.1|NM_001114981.1 NP_001108452.1|NP_001108453.1 Q9H3D4 P63_HUMAN tumor protein p63 227.0 apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61.0 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TGTTATCCGCGCCATGCCTGT 0.517 HNSCC(45;0.13) 0 123.0 120.0 121.0 3 189582120.0 2203.0 4300.0 6503.0 SO:0001583 missense AB010153 CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1 3q27-q29 2014-09-17 ENSG00000073282 ENSG00000073282 8626.0 8626.0 15979.0 protein-coding gene gene with protein product 603273.0 """tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein""" TP73L, TP53L, TP53CP 9774969, 9662378, 11181441, 11181451 Standard NM_003722 NM_003722 Approved p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP uc003fry.2 Q9H3D4 OTTHUMG00000156313 ENST00000354600.5:c.397G>A 3.__UNKNOWN__:g.189582120G>A ENSP00000346614:p.Ala133Thr O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74 __UNKNOWN__ CCDS46978.1 . . . . . . . . . . G 29.9 5.046830 0.93740 . . ENSG00000073282 ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148 D;D;D;D;D;D;D;D;D;D;D;D 0.99857 -7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22 5.85 4.97 0.65823 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.000000 0.85682 D 0.000000 D 0.99802 0.9915 M 0.75264 2.295 0.58432 D 0.999999 D;D;D;D;D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D;D;D;D;D 0.97110 0.995;0.999;0.999;0.999;0.999;0.999;1.0;0.995;1.0;0.999 D 0.96749 0.9552 9 . . . -13.4834 14.4917 0.67654 0.0715:0.0:0.9285:0.0 . 48;227;227;133;133;133;133;227;227;227 Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5 .;.;.;.;.;.;.;.;P63_HUMAN;. T 227;227;227;227;227;142;133;133;133;133;48;133 ENSP00000264731:A227T;ENSP00000407144:A227T;ENSP00000317510:A227T;ENSP00000376253:A227T;ENSP00000394337:A227T;ENSP00000371495:A142T;ENSP00000346614:A133T;ENSP00000392488:A133T;ENSP00000376256:A133T;ENSP00000376254:A133T;ENSP00000387839:A48T;ENSP00000389485:A133T . A + 1 0 TP63 191064814 1.000000 0.71417 1.000000 0.80357 0.830000 0.47004 8.013000 0.88655 2.768000 0.95171 0.655000 0.94253 GCC TP63-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000343868.1 + ENST00000354600.5 Missense_Mutation SNP PCPG-TCGA-QR-A6GO-Normal-SM-5EQHC P2RY6 0 broad.mit.edu 37 11 73008374 73008374 + Missense_Mutation SNP G G A TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr11:73008374G>A ENST00000393590.2 + 2.0 1110 c.811G>A c.(811-813)Gtc>Atc p.V271I P2RY6_ENST00000393591.1_Missense_Mutation_p.V271I|P2RY6_ENST00000540124.1_Missense_Mutation_p.V271I|P2RY6_ENST00000542092.1_Missense_Mutation_p.V271I|P2RY6_ENST00000538328.1_Missense_Mutation_p.V271I|P2RY6_ENST00000349767.2_Missense_Mutation_p.V271I|P2RY6_ENST00000393592.2_Missense_Mutation_p.V271I|P2RY6_ENST00000540342.1_Missense_Mutation_p.V271I NM_001277207.1|NM_001277208.1 NP_001264136.1|NP_001264137.1 Q15077 P2RY6_HUMAN pyrimidinergic receptor P2Y, G-protein coupled, 6 271.0 phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2) 14.0 GACGCCGGGCGTCCCCTGCAC 0.627 0 64.0 63.0 63.0 11 73008374.0 2200.0 4291.0 6491.0 SO:0001583 missense CCDS8220.1 11q13.5 2012-08-08 ENSG00000171631 5031.0 """Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y""" 8543.0 protein-coding gene gene with protein product 602451.0 8670200 Standard NM_176797 Approved P2Y6 uc001otr.4 Q15077 ENST00000393590.2:c.811G>A 11.__UNKNOWN__:g.73008374G>A ENSP00000377215:p.Val271Ile Q15754 __UNKNOWN__ CCDS8220.1 . . . . . . . . . . G 8.272 0.813678 0.16537 . . ENSG00000171631 ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000538328 T;T;T;T;T;T;T;T 0.67698 -0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28 4.81 0.764 0.18465 GPCR, rhodopsin-like superfamily (1); 0.299060 0.30126 N 0.010348 T 0.46964 0.1420 L 0.40543 1.245 0.09310 N 1 B 0.28419 0.211 B 0.22601 0.04 T 0.19321 -1.0309 10 0.25751 T 0.34 . 3.8738 0.09048 0.1431:0.3479:0.3903:0.1187 . 271 Q15077 P2RY6_HUMAN I 271 ENSP00000443427:V271I;ENSP00000445652:V271I;ENSP00000309771:V271I;ENSP00000377217:V271I;ENSP00000377216:V271I;ENSP00000442551:V271I;ENSP00000377215:V271I;ENSP00000442990:V271I ENSP00000309771:V271I V + 1 0 P2RY6 72686022 0.117000 0.22190 0.010000 0.14722 0.321000 0.28281 1.125000 0.31332 0.051000 0.15978 0.655000 0.94253 GTC P2RY6-007 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000397349.1 + ENST00000393590.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GO-Normal-SM-5EQHC LETM1 3954 broad.mit.edu 37 4 1816225 1816225 + Missense_Mutation SNP T T C TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr4:1816225T>C ENST00000302787.2 - 14.0 2442 c.2146A>G c.(2146-2148)Aaa>Gaa p.K716E NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 716.0 cristae formation (GO:0042407) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) calcium ion binding (GO:0005509) breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13.0 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) ttctcctCTTTTTCCAGTGTT 0.542 0 190.0 151.0 164.0 4 1816225.0 2203.0 4300.0 6503.0 SO:0001583 missense AF061025 CCDS3355.1 4p16.3 2013-01-10 ENSG00000168924 ENSG00000168924 3954.0 3954.0 """EF-hand domain containing""" 6556.0 protein-coding gene gene with protein product """Mdm38 homolog (yeast)""" 604407.0 10486213 Standard NM_012318 Approved uc003gdv.3 O95202 OTTHUMG00000121149 ENST00000302787.2:c.2146A>G 4.__UNKNOWN__:g.1816225T>C ENSP00000305653:p.Lys716Glu B4DED2|Q9UF65 __UNKNOWN__ CCDS3355.1 . . . . . . . . . . t 18.58 3.655309 0.67472 . . ENSG00000168924 ENST00000302787 . . . 4.84 4.84 0.62591 . 0.067076 0.64402 D 0.000020 T 0.80019 0.4547 M 0.85041 2.73 0.80722 D 1 D 0.69078 0.997 D 0.75020 0.985 D 0.83543 0.0097 9 0.72032 D 0.01 -34.7907 13.4106 0.60940 0.0:0.0:0.0:1.0 . 716 O95202 LETM1_HUMAN E 716 . ENSP00000305653:K716E K - 1 0 LETM1 1786023 1.000000 0.71417 1.000000 0.80357 0.919000 0.55068 5.486000 0.66856 1.809000 0.52856 0.533000 0.62120 AAA LETM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000241634.1 - ENST00000302787.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GO-Normal-SM-5EQHC LTBP2 4053 broad.mit.edu 37 14 74968293 74968293 + Splice_Site SNP T T G TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr14:74968293T>G ENST00000556690.1 - 34.0 5166 c.5039A>C c.(5038-5040)gAg>gCg p.E1680A LTBP2_ENST00000261978.4_Splice_Site_p.E1724A Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1724.0 protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|heparin binding (GO:0008201) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58.0 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGCTGGGGGCTCTGGGAGGAG 0.647 OREG0022805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 29.0 34.0 32.0 14 74968293.0 2202.0 4300.0 6502.0 SO:0001630 splice_region_variant CCDS9831.1 14q24.3 2011-10-20 2001-12-04 ENSG00000119681 4053.0 4053.0 """Latent transforming growth factor, beta binding proteins""" 6715.0 protein-coding gene gene with protein product 602091.0 """chromosome 14 open reading frame 141""" LTBP3, C14orf141 7798248 Standard NM_000428 NM_000428 Approved uc001xqa.3 Q14767 ENST00000556690.1:c.5039-1A>C 14.__UNKNOWN__:g.74968293T>G 1156.0 Q99907|Q9NS51 __UNKNOWN__ . . . . . . . . . . T 14.40 2.524974 0.44969 . . ENSG00000119681 ENST00000261978;ENST00000556690 T;T 0.78707 -1.2;-1.2 5.25 4.1 0.47936 . 0.344490 0.20717 N 0.086981 T 0.55752 0.1940 N 0.24115 0.695 0.37527 D 0.917789 B 0.21905 0.062 B 0.21151 0.033 T 0.51371 -0.8714 10 0.06757 T 0.87 . 4.1676 0.10313 0.0:0.1916:0.0:0.8084 . 1724 Q14767 LTBP2_HUMAN A 1724;1680 ENSP00000261978:E1724A;ENSP00000451477:E1680A ENSP00000261978:E1724A E - 2 0 LTBP2 74038046 0.697000 0.27767 0.900000 0.35374 0.186000 0.23388 0.947000 0.29082 2.204000 0.70986 0.528000 0.53228 GAG LTBP2-003 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000413598.1 Missense_Mutation - ENST00000556690.1 Splice_Site SNP PCPG-TCGA-QR-A6GO-Normal-SM-5EQHC STIM2 57620 broad.mit.edu 37 4 27024340 27024340 + Missense_Mutation SNP G G A TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr4:27024340G>A ENST00000467011.1 + 0.0 2456 STIM2_ENST00000237364.5_Missense_Mutation_p.G742S|STIM2_ENST00000465503.1_Missense_Mutation_p.G663S|STIM2_ENST00000467087.1_Missense_Mutation_p.G655S|STIM2_ENST00000382009.3_Missense_Mutation_p.G750S|STIM2_ENST00000412829.2_3'UTR NM_001169117.1 NP_001162588 Q9P246 STIM2_HUMAN stromal interaction molecule 2 activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 25.0 Breast(46;0.0503) CGACTGTGTAGGTCTGACAGA 0.483 0 141.0 131.0 134.0 4 27024340.0 2203.0 4300.0 6503.0 SO:0001624 3_prime_UTR_variant AB040915 CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1 4p15.2 2013-01-10 ENSG00000109689 ENSG00000109689 57620.0 57620.0 """Sterile alpha motif (SAM) domain containing""" 19205.0 protein-coding gene gene with protein product 610841.0 11463338 Standard NM_020860 NM_020860 Approved uc003gsh.4 Q9P246 OTTHUMG00000097805 ENST00000467011.1:c.*231G>A 4.__UNKNOWN__:g.27024340G>A A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1 __UNKNOWN__ CCDS54752.1 . . . . . . . . . . G 15.42 2.828356 0.50845 . . ENSG00000109689 ENST00000467087;ENST00000382009;ENST00000237364;ENST00000465503 T;T;T;T 0.76316 -0.97;-1.01;-1.01;-0.98 5.87 5.87 0.94306 . 0.195744 0.46145 D 0.000319 T 0.80874 0.4707 N 0.17082 0.46 0.80722 D 1 D;D 0.65815 0.991;0.995 P;D 0.66196 0.876;0.942 T 0.82678 -0.0338 10 0.66056 D 0.02 . 20.5827 0.99408 0.0:0.0:1.0:0.0 . 750;742 E9PGD0;F5GXJ4 .;. S 655;750;742;663 ENSP00000419073:G655S;ENSP00000371439:G750S;ENSP00000237364:G742S;ENSP00000417569:G663S ENSP00000237364:G742S G + 1 0 STIM2 26633438 1.000000 0.71417 0.834000 0.33040 0.815000 0.46073 5.406000 0.66357 2.941000 0.99782 0.655000 0.94253 GGT STIM2-003 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000356861.1 + ENST00000467011.1 3'UTR SNP PCPG-TCGA-QR-A6GO-Normal-SM-5EQHC AKAP11 11215 broad.mit.edu 37 13 42876661 42876661 + Missense_Mutation SNP C C T TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr13:42876661C>T ENST00000025301.2 + 8.0 3954 c.3779C>T c.(3778-3780)gCg>gTg p.A1260V NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1260.0 intracellular signal transduction (GO:0035556) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56.0 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TGCAATTTTGCGGGTGATCTG 0.368 0 68.0 71.0 70.0 13 42876661.0 2203.0 4300.0 6503.0 SO:0001583 missense AB014529 CCDS9383.1 13q 2012-04-17 ENSG00000023516 ENSG00000023516 11215.0 11215.0 """A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 369.0 protein-coding gene gene with protein product """AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44""" 604696.0 9734811, 8621616 Standard NM_016248 NM_016248 Approved KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44 uc001uys.2 Q9UKA4 OTTHUMG00000016805 ENST00000025301.2:c.3779C>T 13.__UNKNOWN__:g.42876661C>T ENSP00000025301:p.Ala1260Val O75124|Q9NUK7 __UNKNOWN__ CCDS9383.1 . . . . . . . . . . C 24.4 4.523180 0.85600 . . ENSG00000023516 ENST00000025301 T 0.60040 0.22 5.61 5.61 0.85477 . 0.000000 0.64402 D 0.000001 T 0.76828 0.4042 M 0.72894 2.215 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.77469 -0.2576 10 0.59425 D 0.04 . 19.6299 0.95698 0.0:1.0:0.0:0.0 . 1260 Q9UKA4 AKA11_HUMAN V 1260 ENSP00000025301:A1260V ENSP00000025301:A1260V A + 2 0 AKAP11 41774661 1.000000 0.71417 1.000000 0.80357 0.866000 0.49608 7.456000 0.80751 2.639000 0.89480 0.655000 0.94253 GCG AKAP11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044700.2 + ENST00000025301.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GO-Normal-SM-5EQHC TSPAN32 10077 broad.mit.edu 37 11 2337870 2337870 + Missense_Mutation SNP G G A TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr11:2337870G>A ENST00000182290.4 + 8.0 829 c.692G>A c.(691-693)cGc>cAc p.R231H TSPAN32_ENST00000451520.2_Missense_Mutation_p.R220H|TSPAN32_ENST00000381121.3_Missense_Mutation_p.R231H NM_139022.2 NP_620591.3 Q96QS1 TSN32_HUMAN tetraspanin 32 231.0 cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688) cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622) breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1) 8.0 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) AGCTTGGACCGCAAGGGCAAA 0.667 0 104.0 84.0 91.0 11 2337870.0 2202.0 4299.0 6501.0 SO:0001583 missense AF176070 CCDS7733.1 11p15 2013-02-14 2005-08-16 2005-08-16 ENSG00000064201 ENSG00000064201 10077.0 10077.0 """Tetraspanins""" 13410.0 protein-coding gene gene with protein product 603853.0 """pan-hematopoietic expression""" TSSC6, PHEMX 10072438, 10950922 Standard NM_139024 NM_139022 Approved uc001lvy.1 Q96QS1 OTTHUMG00000009762 ENST00000182290.4:c.692G>A 11.__UNKNOWN__:g.2337870G>A ENSP00000182290:p.Arg231His Q96KX4|Q9HC50|Q9HC51|Q9Y5U1 __UNKNOWN__ CCDS7733.1 . . . . . . . . . . . 6.379 0.437944 0.12104 . . ENSG00000064201 ENST00000182290;ENST00000381121;ENST00000451520;ENST00000444307;ENST00000381117 T;T;T 0.58060 0.36;0.43;0.36 3.5 1.46 0.22682 . 0.164071 0.25456 N 0.030558 T 0.42314 0.1197 L 0.27053 0.805 0.22811 N 0.998708 P;P;D;P 0.67145 0.885;0.675;0.996;0.546 B;B;P;B 0.50537 0.178;0.1;0.643;0.046 T 0.31364 -0.9946 10 0.72032 D 0.01 -11.426 5.5797 0.17243 0.2981:0.0:0.7019:0.0 . 220;176;231;231 D3YTD1;G3XAG6;Q96QS1-3;Q96QS1 .;.;.;TSN32_HUMAN H 231;231;220;167;176 ENSP00000182290:R231H;ENSP00000370513:R231H;ENSP00000405205:R220H ENSP00000182290:R231H R + 2 0 TSPAN32 2294446 0.019000 0.18553 0.262000 0.24481 0.051000 0.14879 0.621000 0.24418 0.114000 0.18032 0.313000 0.20887 CGC TSPAN32-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000026912.2 + ENST00000182290.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GO-Normal-SM-5EQHC ONECUT1 3175 broad.mit.edu 37 15 53081412 53081412 + Missense_Mutation SNP C C T TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr15:53081412C>T ENST00000305901.5 - 1.0 797 c.670G>A c.(670-672)Gcc>Acc p.A224T ONECUT1_ENST00000561401.2_Intron NM_004498.2 NP_004489.1 Q9UBC0 HNF6_HUMAN one cut homeobox 1 224.0 B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536) nucleus (GO:0005634) DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 17.0 all cancers(107;0.0708) CCGAGCATGGCCGGGTGGTGG 0.701 0 32.0 42.0 38.0 15 53081412.0 2185.0 4285.0 6470.0 SO:0001583 missense U77975 CCDS10150.1 15q21.3 2012-03-09 2007-07-16 ENSG00000169856 ENSG00000169856 3175.0 3175.0 """Homeoboxes / CUT class""" 8138.0 protein-coding gene gene with protein product 604164.0 """one cut domain, family member 1""" HNF6, HNF6A 8887657, 8790352 Standard NM_004498 Approved HNF-6 uc002aci.2 Q9UBC0 OTTHUMG00000131899 ENST00000305901.5:c.670G>A 15.__UNKNOWN__:g.53081412C>T ENSP00000302630:p.Ala224Thr B2RTV4|Q99744|Q9UMR6 __UNKNOWN__ CCDS10150.1 . . . . . . . . . . C 15.36 2.809486 0.50421 . . ENSG00000169856 ENST00000305901 T 0.50813 0.73 4.65 3.71 0.42584 . 0.120372 0.56097 D 0.000036 T 0.38558 0.1045 L 0.46741 1.465 0.80722 D 1 P 0.37781 0.608 B 0.31614 0.133 T 0.36529 -0.9744 10 0.52906 T 0.07 -12.7366 13.4303 0.61051 0.0:0.8409:0.1591:0.0 . 224 Q9UBC0 HNF6_HUMAN T 224 ENSP00000302630:A224T ENSP00000302630:A224T A - 1 0 ONECUT1 50868704 1.000000 0.71417 1.000000 0.80357 0.830000 0.47004 7.456000 0.80751 1.129000 0.42072 0.609000 0.83330 GCC ONECUT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254849.2 - ENST00000305901.5 Missense_Mutation SNP PCPG-TCGA-QR-A6GO-Normal-SM-5EQHC CACNA1A 773 broad.mit.edu 37 19 13341013 13341013 + Missense_Mutation SNP A A C TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr19:13341013A>C ENST00000360228.5 - 36.0 5410 c.5411T>G c.(5410-5412)cTc>cGc p.L1804R CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1805R|CACNA1A_ENST00000574822.1_5'UTR 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 1805.0 adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750) cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42.0 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661) GGCGACAAAGAGATTCAGCAT 0.577 0 80.0 88.0 85.0 19 13341013.0 2073.0 4228.0 6301.0 SO:0001583 missense U79666 CCDS45998.1, CCDS45999.1 19p13 2014-09-17 ENSG00000141837 ENSG00000141837 773.0 773.0 """Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels""" 1388.0 protein-coding gene gene with protein product 601011.0 CACNL1A4, SCA6, MHP1, MHP 8825650, 16382099, 23827678 Standard NM_000068 NM_000068 Approved Cav2.1, EA2, APCA, HPCA, FHM uc010xne.2 O00555 OTTHUMG00000044590 ENST00000360228.5:c.5411T>G 19.__UNKNOWN__:g.13341013A>C ENSP00000353362:p.Leu1804Arg J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4 __UNKNOWN__ CCDS45998.1 . . . . . . . . . . A 16.15 3.041512 0.55003 . . ENSG00000141837 ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084 D 0.99292 -5.7 4.33 4.33 0.51752 Ion transport (1); 0.000000 0.64402 D 0.000017 D 0.99708 0.9888 H 0.99642 4.675 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;0.999;1.0 D;D;D;D 0.97110 1.0;1.0;0.998;1.0 D 0.97092 0.9791 10 0.87932 D 0 . 12.4815 0.55844 1.0:0.0:0.0:0.0 . 1805;1810;1804;1805 O00555;E9PD31;Q9NS88;E7EVF2 CAC1A_HUMAN;.;.;. R 1804;1810;1805;1805 ENSP00000353362:L1804R ENSP00000317661:L1805R L - 2 0 CACNA1A 13202013 1.000000 0.71417 1.000000 0.80357 0.931000 0.56810 9.238000 0.95380 1.601000 0.50113 0.448000 0.29417 CTC CACNA1A-001 KNOWN non_canonical_U12|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000104062.2 - ENST00000360228.5 Missense_Mutation SNP PCPG-TCGA-QR-A6GO-Normal-SM-5EQHC USP32 84669 broad.mit.edu 37 17 58257980 58257980 + Missense_Mutation SNP C C T rs17405746 TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr17:58257980C>T ENST00000300896.4 - 33.0 4761 c.4567G>A c.(4567-4569)Ggt>Agt p.G1523S USP32_ENST00000592339.1_Missense_Mutation_p.G1193S NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 1523.0 USP. protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) Golgi apparatus (GO:0005794)|membrane (GO:0016020) calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62.0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) TGGCCCCCACCCAGAATTCCT 0.443 0 119.0 105.0 110.0 17 58257980.0 2203.0 4300.0 6503.0 SO:0001583 missense AF533230 CCDS32697.1 17q23.3 2013-01-10 2005-08-08 ENSG00000170832 ENSG00000170832 84669.0 84669.0 """Ubiquitin-specific peptidases"", ""EF-hand domain containing""" 19143.0 protein-coding gene gene with protein product 607740.0 """ubiquitin specific protease 32""" 12838346 Standard NM_032582 NM_032582 Approved NY-REN-60, USP10 uc002iyo.1 Q8NFA0 ENST00000300896.4:c.4567G>A 17.__UNKNOWN__:g.58257980C>T ENSP00000300896:p.Gly1523Ser Q7Z5T3|Q9BX85|Q9Y591 __UNKNOWN__ CCDS32697.1 . . . . . . . . . . C 35 5.414921 0.96092 . . ENSG00000170832 ENST00000300896 T 0.27890 1.64 5.72 5.72 0.89469 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2); 0.000000 0.85682 D 0.000000 T 0.56992 0.2023 M 0.70842 2.15 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.52801 -0.8527 10 0.42905 T 0.14 . 18.852 0.92235 0.0:1.0:0.0:0.0 rs17405746 1523 Q8NFA0 UBP32_HUMAN S 1523 ENSP00000300896:G1523S ENSP00000300896:G1523S G - 1 0 USP32 55612762 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.780000 0.85658 2.690000 0.91761 0.650000 0.86243 GGT USP32-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000449235.2 - ENST00000300896.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GO-Normal-SM-5EQHC BCOR 54880 broad.mit.edu 37 X 39937137 39937137 + Missense_Mutation SNP T T G TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chrX:39937137T>G ENST00000378444.4 - 2.0 274 c.46A>C c.(46-48)Aac>Cac p.N16H BCOR_ENST00000342274.4_Missense_Mutation_p.N16H|BCOR_ENST00000397354.3_Missense_Mutation_p.N16H|BCOR_ENST00000378455.4_Missense_Mutation_p.N16H NM_001123385.1 NP_001116857.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 16.0 heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) 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) 126.0 CTCTCGCTGTTCATCCAGCTG 0.592 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic Rec yes X Xp11.4 54880.0 BCL6 corepressor yes 0 110.0 86.0 94.0 X 39937137.0 2202.0 4300.0 6502.0 SO:0001583 missense AF317391 CCDS14250.1, CCDS48092.1, CCDS48093.1 Xp11.4 2014-09-17 2010-06-10 ENSG00000183337 ENSG00000183337 54880.0 54880.0 """Ankyrin repeat domain containing""" 20893.0 protein-coding gene gene with protein product 300485.0 """BCL6 co-repressor""" 10898795 Standard NM_017745 NM_017745 Approved FLJ20285, KIAA1575 uc004den.4 Q6W2J9 OTTHUMG00000024100 ENST00000378444.4:c.46A>C X.__UNKNOWN__:g.39937137T>G ENSP00000367705:p.Asn16His D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2 __UNKNOWN__ CCDS48093.1 . . . . . . . . . . T 20.8 4.043311 0.75732 . . ENSG00000183337 ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000412952 T;T;T;T 0.44881 0.93;0.91;0.96;0.91 5.51 5.51 0.81932 . . . . . T 0.40196 0.1107 N 0.14661 0.345 0.35536 D 0.802633 P;D;D;P 0.56521 0.883;0.976;0.96;0.951 P;P;P;P 0.55785 0.632;0.784;0.613;0.632 T 0.50634 -0.8805 8 . . . -20.01 14.6304 0.68653 0.0:0.0:0.0:1.0 . 16;16;16;16 Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2 .;.;BCOR_HUMAN;. H 16 ENSP00000367716:N16H;ENSP00000380512:N16H;ENSP00000367705:N16H;ENSP00000345923:N16H . N - 1 0 BCOR 39822081 1.000000 0.71417 1.000000 0.80357 0.971000 0.66376 5.833000 0.69349 1.835000 0.53391 0.417000 0.27973 AAC BCOR-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000060666.2 - ENST00000378444.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GO-Normal-SM-5EQHC CCDC86 79080 broad.mit.edu 37 11 60615402 60615402 + Missense_Mutation SNP C C T TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr11:60615402C>T ENST00000227520.5 + 2.0 818 c.764C>T c.(763-765)tCc>tTc p.S255F RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_5'UTR NM_024098.3 NP_077003.1 Q9H6F5 CCD86_HUMAN coiled-coil domain containing 86 255.0 viral process (GO:0016032) nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3) 10.0 TTCAGATTCTCCCAGATGCTT 0.617 0 115.0 110.0 112.0 11 60615402.0 2203.0 4299.0 6502.0 SO:0001583 missense AK025974 CCDS7993.1 11q12.2 2006-03-16 ENSG00000110104 ENSG00000110104 79080.0 79080.0 28359.0 protein-coding gene gene with protein product 611293.0 Standard NM_024098 NM_024098 Approved MGC2574 uc001nqa.2 Q9H6F5 OTTHUMG00000167706 ENST00000227520.5:c.764C>T 11.__UNKNOWN__:g.60615402C>T ENSP00000227520:p.Ser255Phe B4DY99 __UNKNOWN__ CCDS7993.1 . . . . . . . . . . C 17.34 3.365140 0.61513 . . ENSG00000110104 ENST00000227520 T 0.56941 0.43 5.3 5.3 0.74995 . 0.000000 0.85682 D 0.000000 T 0.73984 0.3657 M 0.81179 2.53 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.77482 -0.2571 10 0.66056 D 0.02 -16.0285 15.8625 0.79035 0.0:1.0:0.0:0.0 . 255 Q9H6F5 CCD86_HUMAN F 255 ENSP00000227520:S255F ENSP00000227520:S255F S + 2 0 CCDC86 60371978 1.000000 0.71417 1.000000 0.80357 0.311000 0.27955 5.249000 0.65427 2.464000 0.83262 0.591000 0.81541 TCC CCDC86-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395743.1 + ENST00000227520.5 Missense_Mutation SNP PCPG-TCGA-QR-A6GO-Normal-SM-5EQHC ZNF425 155054 broad.mit.edu 37 7 148802161 148802162 + Frame_Shift_Ins INS - - GA TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr7:148802161_148802162insGA ENST00000378061.2 - 4.0 933_934 c.801_802insTC c.(799-804)gtccacfs p.H268fs NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 268.0 negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50.0 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGGCCGGTGTGGACAACCTGAT 0.619 0 SO:0001589 frameshift_variant AK056498 CCDS34773.1 7q36.1 2013-01-08 ENSG00000204947 ENSG00000204947 155054.0 155054.0 """Zinc fingers, C2H2-type"", ""-""" 20690.0 protein-coding gene gene with protein product Standard XM_088140 NM_001001661 Approved uc003wfj.3 Q6IV72 OTTHUMG00000158971 ENST00000378061.2:c.800_801dupTC 7.__UNKNOWN__:g.148802162_148802163dupGA ENSP00000367300:p.His268fs B3KPM1|Q08AG3 __UNKNOWN__ CCDS34773.1 ZNF425-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352726.1 - ENST00000378061.2 Frame_Shift_Ins INS PCPG-TCGA-QR-A6GO-Normal-SM-5EQHC Unknown 391827 bcgsc.ca 37 5 122972353 122972353 + RNA SNP G G A TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr5:122972353G>A CSNK1G3 (19614 upstream) : RP11-93O7.5 (676988 downstream) CGACATCCACGGGCTCCGCAA 0.527 0 SO:0001628 intergenic_variant 5.__UNKNOWN__:g.122972353G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A6GO-Normal-SM-5EQHC LRP4 4038 bcgsc.ca 37 11 46924361 46924361 + Missense_Mutation SNP C C A rs139901577 TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr11:46924361C>A ENST00000378623.1 - 2.0 414 c.172G>T c.(172-174)Ggg>Tgg p.G58W NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 58.0 LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}. dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055) cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060) calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110) 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) 70.0 Lung(87;0.159) CTGTGGTCCCCGCAGTCATTG 0.592 0 88.0 83.0 85.0 11 46924361.0 2201.0 4299.0 6500.0 SO:0001583 missense AB011540 CCDS31478.1 11p11.2 2013-05-29 ENSG00000134569 ENSG00000134569 4038.0 4038.0 """Low density lipoprotein receptors""" 6696.0 protein-coding gene gene with protein product 604270 9693030 Standard NM_002334 NM_002334 Approved MEGF7, CLSS, LRP-4, SOST2 uc001ndn.4 O75096 OTTHUMG00000166700 ENST00000378623.1:c.172G>T 11.__UNKNOWN__:g.46924361C>A ENSP00000367888:p.Gly58Trp B2RN39|Q4AC85|Q5KTZ5 __UNKNOWN__ CCDS31478.1 . . . . . . . . . . C 29.2 4.989026 0.93106 . . ENSG00000134569 ENST00000378623 D 0.95656 -3.77 5.86 5.86 0.93980 Low-density lipoprotein (LDL) receptor class A, conserved site (1); 0.000000 0.85682 D 0.000000 D 0.98365 0.9457 M 0.92691 3.335 0.80722 D 1 D 0.76494 0.999 D 0.72075 0.976 D 0.98648 1.0678 10 0.66056 D 0.02 . 20.1865 0.98220 0.0:1.0:0.0:0.0 . 58 O75096 LRP4_HUMAN W 58 ENSP00000367888:G58W ENSP00000367888:G58W G - 1 0 LRP4 46880937 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 4.891000 0.63185 2.775000 0.95449 0.655000 0.94253 GGG LRP4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000391133.1 - ENST00000378623.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GO-Normal-SM-5EQHC NRD1 4898 bcgsc.ca 37 1 52301828 52301828 + Silent SNP C C T TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr1:52301828C>T ENST00000354831.7 - 5.0 1080 c.891G>A c.(889-891)ccG>ccA p.P297P NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.P229P|NRD1_ENST00000544028.1_Silent_p.P97P|NRD1_ENST00000539524.1_Silent_p.P165P NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 228.0 cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548) cell surface (GO:0009986)|cytosol (GO:0005829) epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222) NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27.0 GTGCCAGCCCCGGCAGGTCAT 0.418 0 53.0 58.0 56.0 1 52301828.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X93207 CCDS559.1, CCDS41335.1, CCDS55599.1 1p32.2-p32.1 2008-07-18 ENSG00000078618 ENSG00000078618 4898.0 4898.0 7995.0 protein-coding gene gene with protein product 602651 9581555, 9479496 Standard NM_002525 NM_002525 Approved hNRD1, hNRD2 uc001ctc.4 O43847 OTTHUMG00000008278 ENST00000354831.7:c.891G>A 1.__UNKNOWN__:g.52301828C>T A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57 __UNKNOWN__ CCDS559.1 NRD1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000023045.1 - ENST00000354831.7 Silent SNP PCPG-TCGA-QR-A6GO-Normal-SM-5EQHC SMG9 56006 bcgsc.ca 37 19 44248967 44248967 + Missense_Mutation SNP C C T TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr19:44248967C>T ENST00000270066.6 - 6.0 1000 c.658G>A c.(658-660)Gtc>Atc p.V220I SMG9_ENST00000601170.1_Missense_Mutation_p.V220I NM_019108.2 NP_061981.2 Q9H0W8 SMG9_HUMAN SMG9 nonsense mediated mRNA decay factor 220.0 gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070) cytosol (GO:0005829)|intracellular (GO:0005622) identical protein binding (GO:0042802) kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2) 19.0 AATGACATGACCATGGACTTG 0.552 OREG0025533 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 163.0 123.0 137.0 19 44248967.0 2203.0 4300.0 6503.0 SO:0001583 missense BC008869 CCDS33043.2 19q13.31 2013-07-02 2013-07-02 2011-06-21 ENSG00000105771 ENSG00000105771 56006.0 56006.0 25763.0 protein-coding gene gene with protein product 613176 """chromosome 19 open reading frame 61"", ""smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)""" C19orf61 11230166, 19417104 Standard NM_019108 NM_019108 Approved FLJ12886 uc002oxj.2 Q9H0W8 OTTHUMG00000150337 ENST00000270066.6:c.658G>A 19.__UNKNOWN__:g.44248967C>T ENSP00000270066:p.Val220Ile 922.0 O60429|Q9H9A9 __UNKNOWN__ CCDS33043.2 . . . . . . . . . . C 3.589 -0.084012 0.07097 . . ENSG00000105771 ENST00000270066 T 0.65549 -0.16 5.25 5.25 0.73442 . 0.198126 0.38005 N 0.001847 T 0.31167 0.0788 N 0.01668 -0.77 0.40835 D 0.983628 B;B 0.09022 0.002;0.002 B;B 0.11329 0.003;0.006 T 0.33394 -0.9870 10 0.09084 T 0.74 -19.2442 12.1324 0.53950 0.0:0.8271:0.1729:0.0 . 220;220 Q9H0W8-2;Q9H0W8 .;SMG9_HUMAN I 220 ENSP00000270066:V220I ENSP00000270066:V220I V - 1 0 SMG9 48940807 1.000000 0.71417 1.000000 0.80357 0.843000 0.47879 1.885000 0.39678 2.469000 0.83416 0.455000 0.32223 GTC SMG9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317668.1 - ENST00000270066.6 Missense_Mutation SNP PCPG-TCGA-QR-A6GO-Normal-SM-5EQHC ICAM5 7087 ucsc.edu 37 19 10406053 10406053 + Silent SNP G G A TCGA-QR-A6GO-01A-11D-A35D-08 TCGA-QR-A6GO-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq fc38b6eb-f471-4b7b-ae83-9a407c0993ec 8602b309-864e-49c1-9a80-76545236321d g.chr19:10406053G>A ENST00000221980.4 + 10.0 2325 c.2262G>A c.(2260-2262)tcG>tcA p.S754S NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 754.0 Ig-like C2-type 9. phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21.0 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) TTGCTGCCTCGCCCCCTGGAG 0.706 0 12.0 14.0 13.0 19 10406053.0 2133.0 4265.0 6398.0 SO:0001819 synonymous_variant U72671 CCDS12233.1 19p13.2 2013-01-14 ENSG00000105376 7087.0 7087.0 """Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 5348.0 protein-coding gene gene with protein product """telencephalin""" 601852 TLCN 8995416, 9828136 Standard NM_003259 NM_003259 Approved TLN uc002mnu.4 Q9UMF0 ENST00000221980.4:c.2262G>A 19.__UNKNOWN__:g.10406053G>A Q9Y6F3 __UNKNOWN__ CCDS12233.1 ICAM5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451217.1 + ENST00000221980.4 Silent SNP PCPG-TCGA-QR-A6GO-Normal-SM-5EQHC CXorf23 256643 broad.mit.edu 37 X 19983717 19983717 + Missense_Mutation SNP G G T TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chrX:19983717G>T ENST00000379687.3 - 3.0 752 c.719C>A c.(718-720)cCt>cAt p.P240H CXorf23_ENST00000356980.3_Missense_Mutation_p.P240H|CXorf23_ENST00000379682.4_Missense_Mutation_p.P240H NM_198279.3 NP_938020.2 A2AJT9 CX023_HUMAN chromosome X open reading frame 23 240.0 mitochondrion (GO:0005739) endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11.0 GGAATGCTCAGGCTTCCACTT 0.502 0 133.0 125.0 127.0 X 19983717.0 1960.0 4110.0 6070.0 SO:0001583 missense AL833278 CCDS14194.2 Xp22.13 2012-11-27 ENSG00000173681 ENSG00000173681 256643.0 256643.0 27413.0 protein-coding gene gene with protein product 14702039 Standard NM_198279 NM_198279 Approved uc004czp.3 A2AJT9 OTTHUMG00000021226 ENST00000379687.3:c.719C>A X.__UNKNOWN__:g.19983717G>T ENSP00000369009:p.Pro240His A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7 __UNKNOWN__ CCDS14194.2 . . . . . . . . . . G 13.86 2.363004 0.41902 . . ENSG00000173681 ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038 T;T;T 0.14640 2.49;2.49;2.49 5.24 4.26 0.50523 . . . . . T 0.12561 0.0305 N 0.19112 0.55 0.09310 N 1 P;D 0.53151 0.925;0.958 P;P 0.50378 0.639;0.639 T 0.13176 -1.0519 8 . . . . 6.9776 0.24686 0.1053:0.0:0.6796:0.2152 . 240;240 A2AJT9-2;A2AJT9 .;CX023_HUMAN H 240;240;240;128 ENSP00000369009:P240H;ENSP00000369004:P240H;ENSP00000349470:P240H . P - 2 0 CXorf23 19893638 0.195000 0.23338 0.543000 0.28128 0.937000 0.57800 2.226000 0.42963 0.927000 0.37143 0.550000 0.68814 CCT CXorf23-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055986.1 - ENST00000379687.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP ASB12 55613 broad.mit.edu 37 X 63445429 63445429 + Silent SNP C C T TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chrX:63445429C>T ENST00000362002.2 - 2.0 294 c.102G>A c.(100-102)gaG>gaA p.E34E MTMR8_ENST00000453546.1_Silent_p.E409E|ASB12_ENST00000396130.2_Silent_p.E25E NM_130388.3 NP_569059.3 Q8WXK4 ASB12_HUMAN ankyrin repeat and SOCS box containing 12 25.0 intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567) p.0?(2) endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 14.0 CCTGCTTCTCCTCTGTGTCAG 0.493 2 Whole gene deletion(2) ovary(1)|large_intestine(1) 78.0 59.0 65.0 X 63445429.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF403030 CCDS14378.1, CCDS14378.2 Xq11.1 2013-01-10 2011-01-25 ENSG00000198881 ENSG00000198881 142689.0 142689.0 """Ankyrin repeat domain containing""" 19763.0 protein-coding gene gene with protein product 300891.0 """ankyrin repeat and SOCS box-containing 12""" 12076535 Standard NM_130388 Approved FLJ39577 Q8WXK4 OTTHUMG00000021705 ENST00000362002.2:c.102G>A X.__UNKNOWN__:g.63445429C>T J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5 __UNKNOWN__ CCDS14378.2 ASB12-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000056947.2 - ENST00000362002.2 Silent SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP POTEA 340441 broad.mit.edu 37 8 43147783 43147783 + RNA SNP C C T TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr8:43147783C>T ENST00000522175.2 + 0.0 158 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46.0 ACGACGACAGCGCCTTCACGG 0.607 0 66.0 70.0 69.0 8 43147783.0 2203.0 4300.0 6503.0 AY462869 8p11.1 2013-01-11 2008-11-26 2008-11-26 ENSG00000188877 ENSG00000188877 340441.0 340441.0 """POTE ankyrin domain containing"", ""Ankyrin repeat domain containing""" 33893.0 protein-coding gene gene with protein product """cancer/testis antigen family 104, member 3""" 608915.0 """ANKRD26-like family A, member 1""" A26A1 Standard NM_001002920 NM_001002920 Approved POTE8, POTE-8, CT104.3 uc003xpz.1 Q6S8J7 OTTHUMG00000164111 ENST00000522175.2: 8.__UNKNOWN__:g.43147783C>T A6ND17|A6ND71|Q6S8J6 __UNKNOWN__ POTEA-003 KNOWN basic processed_transcript pseudogene OTTHUMT00000383492.1 + ENST00000522175.2 RNA SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP FBXO18 84893 broad.mit.edu 37 10 5960389 5960389 + Missense_Mutation SNP C C T TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr10:5960389C>T ENST00000362091.4 + 13.0 2163 c.2048C>T c.(2047-2049)gCg>gTg p.A683V FBXO18_ENST00000379999.5_Missense_Mutation_p.A734V|FBXO18_ENST00000397269.3_Missense_Mutation_p.A170V NM_001258453.1|NM_178150.2 NP_001245382.1|NP_835363.1 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 683.0 DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429) nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677) NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40.0 TTCCGGGGTGCGGTCAACGCC 0.537 0 143.0 129.0 134.0 10 5960389.0 2203.0 4300.0 6503.0 SO:0001583 missense AK095343 CCDS7072.1, CCDS7073.1, CCDS73064.1 10p15.1 2004-08-24 2004-06-15 ENSG00000134452 ENSG00000134452 84893.0 84893.0 """F-boxes / ""other""""" 13620.0 protein-coding gene gene with protein product 607222.0 """F-box only protein 18""" 10531037, 11956208 Standard NM_032807 NM_032807 Approved FBH1, FLJ14590, Fbx18 uc001iit.4 Q8NFZ0 OTTHUMG00000017609 ENST00000362091.4:c.2048C>T 10.__UNKNOWN__:g.5960389C>T ENSP00000355415:p.Ala683Val Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2 __UNKNOWN__ CCDS7072.1 . . . . . . . . . . C 35 5.493010 0.96339 . . ENSG00000134452 ENST00000397269;ENST00000362091;ENST00000379999 D;D;D 0.85861 -2.04;-2.04;-2.04 5.88 5.88 0.94601 . 0.000000 0.85682 D 0.000000 D 0.94820 0.8327 M 0.93978 3.48 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.85130 0.995;0.997;0.997 D 0.95359 0.8454 10 0.87932 D 0 -18.3975 19.8834 0.96906 0.0:1.0:0.0:0.0 . 734;683;609 Q8NFZ0-2;Q8NFZ0;Q2TAK1 .;FBX18_HUMAN;. V 170;683;734 ENSP00000380439:A170V;ENSP00000355415:A683V;ENSP00000369335:A734V ENSP00000355415:A683V A + 2 0 FBXO18 6000395 1.000000 0.71417 0.496000 0.27539 0.918000 0.54935 6.934000 0.75880 2.791000 0.96007 0.650000 0.86243 GCG FBXO18-009 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000046596.1 + ENST00000362091.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP XIRP2 129446 broad.mit.edu 37 2 168115434 168115434 + Missense_Mutation SNP T T A TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr2:168115434T>A ENST00000409728.1 + 11.0 2566 c.2477T>A c.(2476-2478)gTg>gAg p.V826E XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.V571E|XIRP2_ENST00000409756.2_Missense_Mutation_p.V793E|XIRP2_ENST00000420519.1_Missense_Mutation_p.V826E|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.V793E NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0.0 actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281) cell junction (GO:0030054)|Z disc (GO:0030018) 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) 315.0 GGCAGTCCTGTGCAGCCTGCT 0.443 0 29.0 29.0 29.0 2 168115434.0 1858.0 4103.0 5961.0 SO:0001583 missense AK056582 CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1 2q31.1 2013-10-25 2007-06-27 2007-06-27 ENSG00000163092 ENSG00000163092 129446.0 129446.0 14303.0 protein-coding gene gene with protein product """myomaxin""" 609778.0 """cardiomyopathy associated 3""" CMYA3 17046827, 12203715, 15454575 Standard NM_152381 NM_001079810 Approved uc002udx.3 A4UGR9 OTTHUMG00000154027 ENST00000409728.1:c.2477T>A 2.__UNKNOWN__:g.168115434T>A ENSP00000386619:p.Val826Glu A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6 __UNKNOWN__ CCDS56143.1 . . . . . . . . . . T 12.28 1.890011 0.33348 . . ENSG00000163092 ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605 T;T;T;T;D 0.81579 -1.49;-1.49;-1.49;-1.49;-1.51 5.67 3.25 0.37280 . . . . . T 0.69468 0.3114 . . . 0.80722 D 1 B;B 0.23806 0.091;0.091 B;B 0.19666 0.018;0.026 T 0.63849 -0.6544 8 0.87932 D 0 . 3.2059 0.06666 0.1718:0.2158:0.0:0.6124 . 793;826 A4UGR9-4;A4UGR9-6 .;. E 793;826;793;826;571 ENSP00000386454:V793E;ENSP00000386619:V826E;ENSP00000386724:V793E;ENSP00000415541:V826E;ENSP00000386981:V571E ENSP00000386454:V793E V + 2 0 XIRP2 167823680 0.998000 0.40836 0.820000 0.32676 0.606000 0.37113 1.934000 0.40163 0.408000 0.25621 0.459000 0.35465 GTG XIRP2-006 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000333552.1 + ENST00000409728.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP DNAH8 1769 broad.mit.edu 37 6 38881624 38881624 + Splice_Site SNP G G A TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr6:38881624G>A ENST00000359357.3 + 65.0 9462 c.e65-1 DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site Q96JB1 DYH8_HUMAN dynein, axonemal, heavy chain 8 cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) p.?(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) 260.0 TATTTGTAAAGGTCTTGATAA 0.358 2 Unknown(2) skin(2) 107.0 105.0 106.0 6 38881624.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant Z83806 CCDS75447.1 6p21.2 2012-04-19 2006-09-04 ENSG00000124721 ENSG00000124721 1769.0 1769.0 """Axonemal dyneins""" 2952.0 protein-coding gene gene with protein product 603337.0 """dynein, axonemal, heavy polypeptide 8""" 9373155 Standard NM_001206927 NM_001206927 Approved hdhc9 uc021yzh.1 Q96JB1 OTTHUMG00000016253 ENST00000359357.3:c.9209-1G>A 6.__UNKNOWN__:g.38881624G>A O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4 __UNKNOWN__ . . . . . . . . . . G 28.3 4.909478 0.92107 . . ENSG00000124721 ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566 . . . 6.08 6.08 0.98989 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 20.6634 0.99662 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . DNAH8 38989602 1.000000 0.71417 1.000000 0.80357 0.953000 0.61014 9.675000 0.98638 2.894000 0.99253 0.655000 0.94253 . DNAH8-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000043574.1 Intron + ENST00000359357.3 Splice_Site SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP MAL 4118 broad.mit.edu 37 2 95713830 95713830 + Missense_Mutation SNP A A G TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr2:95713830A>G ENST00000309988.4 + 2.0 329 c.220A>G c.(220-222)Ata>Gta p.I74V MAL_ENST00000353004.3_Missense_Mutation_p.I74V|MAL_ENST00000349807.3_Intron|MAL_ENST00000354078.3_Intron NM_002371.3 NP_002362.1 P21145 MAL_HUMAN mal, T-cell differentiation protein 74.0 MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}. apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121) channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911) p.I74V(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2) 10.0 STAD - Stomach adenocarcinoma(1183;0.18) CATCCTGTACATAATTGGAGC 0.622 1 Substitution - Missense(1) prostate(1) 104.0 93.0 97.0 2 95713830.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1 2q11.1 2008-07-29 ENSG00000172005 ENSG00000172005 4118.0 4118.0 6817.0 protein-coding gene gene with protein product 188860.0 Standard NM_002371 NM_002371 Approved uc002stx.2 P21145 OTTHUMG00000132011 ENST00000309988.4:c.220A>G 2.__UNKNOWN__:g.95713830A>G ENSP00000310880:p.Ile74Val Q6FH77 __UNKNOWN__ CCDS2006.1 . . . . . . . . . . A 1.702 -0.501229 0.04261 . . ENSG00000172005 ENST00000309988;ENST00000353004 T;T 0.41758 1.9;0.99 5.77 0.0503 0.14293 Marvel (1);MARVEL-like domain (1); 0.703683 0.15149 N 0.277817 T 0.18759 0.0450 N 0.13140 0.3 0.45035 D 0.998055 B;B 0.09022 0.002;0.002 B;B 0.14023 0.004;0.01 T 0.09796 -1.0658 10 0.21540 T 0.41 . 1.942 0.03348 0.5035:0.2424:0.0939:0.1602 . 74;74 P21145-2;P21145 .;MAL_HUMAN V 74 ENSP00000310880:I74V;ENSP00000306568:I74V ENSP00000310880:I74V I + 1 0 MAL 95077557 0.033000 0.19621 0.100000 0.21137 0.487000 0.33371 0.086000 0.14935 -0.141000 0.11374 -1.785000 0.00643 ATA MAL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254982.3 + ENST00000309988.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP WWP1 11059 broad.mit.edu 37 8 87470169 87470169 + Missense_Mutation SNP A A G TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr8:87470169A>G ENST00000517970.1 + 22.0 2721 c.2414A>G c.(2413-2415)cAg>cGg p.Q805R WWP1_ENST00000265428.4_Missense_Mutation_p.Q805R|WWP1_ENST00000349423.2_Missense_Mutation_p.Q587R|WWP1_ENST00000341922.2_Missense_Mutation_p.Q675R NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 805.0 HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}. central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31.0 TGTGGCATGCAGGAGGTTGAC 0.373 0 169.0 151.0 157.0 8 87470169.0 2203.0 4300.0 6503.0 SO:0001583 missense AY043361 CCDS6242.1 8q21.3 2013-07-22 ENSG00000123124 ENSG00000123124 11059.0 11059.0 17004.0 protein-coding gene gene with protein product 602307.0 9169421, 9647693 Standard NM_007013 NM_007013 Approved AIP5, DKFZP434D2111 uc003ydt.3 Q9H0M0 OTTHUMG00000163690 ENST00000517970.1:c.2414A>G 8.__UNKNOWN__:g.87470169A>G ENSP00000427793:p.Gln805Arg O00307|Q5YLC1|Q96BP4 __UNKNOWN__ CCDS6242.1 . . . . . . . . . . A 21.9 4.215265 0.79352 . . ENSG00000123124 ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423 T;T;T;T 0.41758 0.99;0.99;0.99;0.99 4.9 4.9 0.64082 HECT (4); 0.000000 0.85682 D 0.000000 T 0.59609 0.2206 L 0.54908 1.71 0.80722 D 1 D 0.76494 0.999 D 0.91635 0.999 T 0.62544 -0.6832 10 0.62326 D 0.03 . 14.5539 0.68086 1.0:0.0:0.0:0.0 . 805 Q9H0M0 WWP1_HUMAN R 805;805;675;587 ENSP00000427793:Q805R;ENSP00000265428:Q805R;ENSP00000340564:Q675R;ENSP00000342665:Q587R ENSP00000265428:Q805R Q + 2 0 WWP1 87539285 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.162000 0.94745 1.842000 0.53543 0.477000 0.44152 CAG WWP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374755.1 + ENST00000517970.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP FAM102B 284611 broad.mit.edu 37 1 109171302 109171302 + Silent SNP C C T TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr1:109171302C>T ENST00000405454.1 + 9.0 1186 c.846C>T c.(844-846)tgC>tgT p.C282C FAM102B_ENST00000370035.3_Silent_p.C282C Q5T8I3 F102B_HUMAN family with sequence similarity 102, member B 282.0 autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 5.0 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) TTCAAAGATGCCCAGTGAAAC 0.303 0 49.0 48.0 48.0 1 109171302.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CR749397 CCDS30786.2 1p13.3 2012-11-05 ENSG00000162636 ENSG00000162636 284611.0 284611.0 27637.0 protein-coding gene gene with protein product """sym-3 homolog B (C. elegans)""" Standard NM_001010883 NM_001010883 Approved DKFZp779B126, SYM-3B uc010ouy.2 Q5T8I3 OTTHUMG00000010967 ENST00000405454.1:c.846C>T 1.__UNKNOWN__:g.109171302C>T A1L1A1|B0QZ46|B0QZ47|Q68DH7 __UNKNOWN__ FAM102B-003 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000323368.1 + ENST00000405454.1 Silent SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP SH3TC1 54436 broad.mit.edu 37 4 8207347 8207347 + Missense_Mutation SNP G G C TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr4:8207347G>C ENST00000245105.3 + 2.0 239 SH3TC1_ENST00000539824.1_Intron|SH3TC1_ENST00000382521.3_Missense_Mutation_p.A86P NM_018986.3 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33.0 AACAAAACTGGCAAAGAACGA 0.567 NSCLC(145;2298 2623 35616 37297) 0 37.0 38.0 38.0 4 8207347.0 876.0 1991.0 2867.0 SO:0001627 intron_variant AK074093 CCDS3399.1 4p16.1 2013-01-11 ENSG00000125089 ENSG00000125089 54436.0 54436.0 """Tetratricopeptide (TTC) repeat domain containing""" 26009.0 protein-coding gene gene with protein product Standard NM_018986 NM_018986 Approved FLJ20356 uc003gkv.4 Q8TE82 OTTHUMG00000160934 ENST00000245105.3:c.172+254G>C 4.__UNKNOWN__:g.8207347G>C Q4W5G5 __UNKNOWN__ CCDS3399.1 . . . . . . . . . . g 5.655 0.305538 0.10678 . . ENSG00000125089 ENST00000382521 . . . 1.62 -3.25 0.05079 . . . . . T 0.34106 0.0886 . . . 0.09310 N 1 . . . . . . T 0.37798 -0.9690 5 0.66056 D 0.02 . 4.2836 0.10844 0.0:0.3641:0.2756:0.3603 . . . . P 86 . ENSP00000371961:A86P A + 1 0 SH3TC1 8258247 0.003000 0.15002 0.000000 0.03702 0.082000 0.17680 0.781000 0.26774 -1.414000 0.02025 0.556000 0.70494 GCA SH3TC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000206991.2 + ENST00000245105.3 Intron SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr10:51093329C>T ENST00000402038.3 - 4.0 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584.0 A-domain. carbohydrate metabolic process (GO:0005975) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634) poly(ADP-ribose) glycohydrolase activity (GO:0004649) p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10.0 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318 1 Substitution - Missense(1) kidney(1) 235.0 183.0 198.0 10 51093329.0 692.0 1589.0 2281.0 SO:0001583 missense AF005043 CCDS73130.1 10q11.23 2012-04-20 ENSG00000227345 ENSG00000227345 8505.0 8505.0 3.2.1.143 8605.0 protein-coding gene gene with protein product 603501.0 9115250, 10449915 Standard NM_003631 NM_003631 Approved uc001jif.3 Q86W56 OTTHUMG00000018201 ENST00000402038.3:c.295G>A 10.__UNKNOWN__:g.51093329C>T ENSP00000384408:p.Ala99Thr A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7 __UNKNOWN__ . . . . . . . . . . C 12.89 2.073258 0.36566 . . ENSG00000227345 ENST00000402038 . . . 3.88 2.96 0.34315 . . . . . T 0.46678 0.1405 M 0.61703 1.905 . . . B;B;P;P;P;B 0.41947 0.002;0.003;0.574;0.766;0.766;0.006 B;B;B;B;B;B 0.38616 0.006;0.006;0.191;0.179;0.277;0.01 T 0.56631 -0.7947 7 0.18710 T 0.47 -4.0352 11.9338 0.52862 0.0:0.9123:0.0:0.0877 . 502;584;135;99;124;584 Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4 .;PARG_HUMAN;.;.;.;. T 99 . ENSP00000384408:A99T A - 1 0 PARG 50763335 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 1.907000 0.39897 0.952000 0.37798 0.407000 0.27541 GCA PARG-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal protein_coding protein_coding OTTHUMT00000048011.2 - ENST00000402038.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP SLFN11 91607 broad.mit.edu 37 17 33679950 33679950 + Missense_Mutation SNP C C G TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr17:33679950C>G ENST00000394566.1 - 7.0 2403 c.2131G>C c.(2131-2133)Gat>Cat p.D711H SLFN11_ENST00000308377.4_Missense_Mutation_p.D711H 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 11 711.0 defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|tRNA binding (GO:0000049) autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50.0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCACTGCAATCCAAGTGGCTG 0.483 0 116.0 121.0 119.0 17 33679950.0 2203.0 4300.0 6503.0 SO:0001583 missense AK074184 CCDS11294.1 17q12 2006-04-05 ENSG00000172716 ENSG00000172716 91607.0 91607.0 26633.0 protein-coding gene gene with protein product 614953.0 12477932 Standard NM_152270 NM_001104587 Approved FLJ34922 uc010ctr.3 Q7Z7L1 OTTHUMG00000132948 ENST00000394566.1:c.2131G>C 17.__UNKNOWN__:g.33679950C>G ENSP00000378067:p.Asp711His E1P643|Q8N3S8|Q8N762|Q8TEE0 __UNKNOWN__ CCDS11294.1 . . . . . . . . . . c 6.901 0.535747 0.13188 . . ENSG00000172716 ENST00000308377;ENST00000394566 D;D 0.86865 -2.18;-2.18 4.0 -4.99 0.03010 . 1.799170 0.02834 N 0.127071 T 0.78368 0.4272 L 0.39898 1.24 0.09310 N 1 B 0.09022 0.002 B 0.14578 0.011 T 0.58730 -0.7585 10 0.40728 T 0.16 . 1.6976 0.02865 0.1423:0.2648:0.1393:0.4536 . 711 Q7Z7L1 SLN11_HUMAN H 711 ENSP00000312402:D711H;ENSP00000378067:D711H ENSP00000312402:D711H D - 1 0 SLFN11 30704063 0.000000 0.05858 0.014000 0.15608 0.371000 0.29859 -1.281000 0.02802 -1.169000 0.02772 -1.830000 0.00593 GAT SLFN11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256480.1 - ENST00000394566.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP GANC 2595 broad.mit.edu 37 15 42614135 42614135 + Missense_Mutation SNP G G A TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr15:42614135G>A ENST00000318010.8 + 11.0 1450 c.1210G>A c.(1210-1212)Ggc>Agc p.G404S NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 404.0 carbohydrate metabolic process (GO:0005975) alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450) breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23.0 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) Miglitol(DB00491) GCACACTGAGGGCAAGAGGTA 0.463 0 121.0 96.0 105.0 15 42614135.0 2203.0 4299.0 6502.0 SO:0001583 missense AF545045 CCDS10084.1 15q15.2 2012-10-02 ENSG00000214013 ENSG00000214013 2595.0 2595.0 3.2.1.20 4139.0 protein-coding gene gene with protein product 104180.0 6995030, 12370436 Standard NM_198141 NM_198141 Approved uc001zpi.3 Q8TET4 OTTHUMG00000130487 ENST00000318010.8:c.1210G>A 15.__UNKNOWN__:g.42614135G>A ENSP00000326227:p.Gly404Ser Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5 __UNKNOWN__ CCDS10084.1 . . . . . . . . . . G 33 5.240399 0.95240 . . ENSG00000214013 ENST00000318010 D 0.95690 -3.78 5.47 5.47 0.80525 Glycoside hydrolase, superfamily (1); 0.152935 0.56097 D 0.000022 D 0.96555 0.8876 M 0.79614 2.46 0.58432 D 0.999995 P 0.48407 0.91 P 0.50162 0.633 D 0.96356 0.9262 10 0.49607 T 0.09 -6.9399 19.3311 0.94288 0.0:0.0:1.0:0.0 . 404 Q8TET4 GANC_HUMAN S 404 ENSP00000326227:G404S ENSP00000326227:G404S G + 1 0 GANC 40401427 1.000000 0.71417 0.986000 0.45419 0.996000 0.88848 6.691000 0.74573 2.565000 0.86533 0.655000 0.94253 GGC GANC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252887.2 + ENST00000318010.8 Missense_Mutation SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP MLLT4 4301 broad.mit.edu 37 6 168281192 168281192 + Missense_Mutation SNP G G T TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr6:168281192G>T ENST00000447894.2 + 6.0 892 c.892G>T c.(892-894)Gcc>Tcc p.A298S MLLT4_ENST00000400822.3_Missense_Mutation_p.A297S|MLLT4_ENST00000392112.1_Missense_Mutation_p.A297S|MLLT4_ENST00000392108.3_Missense_Mutation_p.A298S|MLLT4_ENST00000344191.4_Missense_Mutation_p.A298S|MLLT4_ENST00000351017.4_Missense_Mutation_p.A298S|MLLT4_ENST00000366806.2_Missense_Mutation_p.A298S P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 298.0 Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}. adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165) apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) protein C-terminus binding (GO:0008022) 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) 65.0 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) TTACTGCATCGCCCGGGTAAG 0.383 T MLL AL Dom yes 6 6q27 4301.0 """myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)""" L 0 99.0 110.0 106.0 6 168281192.0 2203.0 4296.0 6499.0 SO:0001583 missense AB011399 CCDS47517.1, CCDS75553.1 6q27 2008-02-05 2001-11-28 ENSG00000130396 ENSG00000130396 4301.0 4301.0 7137.0 protein-coding gene gene with protein product 159559.0 """myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4""" 8242616 Standard NM_005936 NM_001040000 Approved AF-6, AF6 uc021zij.1 P55196 OTTHUMG00000016031 ENST00000447894.2:c.892G>T 6.__UNKNOWN__:g.168281192G>T ENSP00000404595:p.Ala298Ser O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 20.7|20.7 4.030669|4.030669 0.75504|0.75504 .|. .|. ENSG00000130396|ENSG00000130396 ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229 T;T;T;T;T;T;T|. 0.17370|. 2.28;2.28;2.28;2.28;2.28;2.28;2.28|. 5.16|5.16 5.16|5.16 0.70880|0.70880 .|. 0.057014|. 0.64402|. D|. 0.000001|. T|T 0.61261|0.61261 0.2333|0.2333 L|L 0.47716|0.47716 1.5|1.5 0.58432|0.58432 D|D 0.999995|0.999995 B;B;B|. 0.33266|. 0.404;0.113;0.113|. P;P;B|. 0.47573|. 0.55;0.507;0.438|. T|T 0.57376|0.57376 -0.7822|-0.7822 10|5 0.62326|. D|. 0.03|. -8.2159|-8.2159 18.8279|18.8279 0.92125|0.92125 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 297;298;297|. P55196-5;P55196-6;P55196-2|. .;.;.|. S|L 298;298;298;298;297;298;297;298|11 ENSP00000341118:A298S;ENSP00000252692:A298S;ENSP00000375956:A298S;ENSP00000355771:A298S;ENSP00000375960:A297S;ENSP00000383623:A297S;ENSP00000404595:A298S|. ENSP00000345834:A298S|. A|R +|+ 1|2 0|0 MLLT4|MLLT4 168024041|168024041 1.000000|1.000000 0.71417|0.71417 0.914000|0.914000 0.36105|0.36105 0.589000|0.589000 0.36550|0.36550 7.109000|7.109000 0.77062|0.77062 2.651000|2.651000 0.90000|0.90000 0.650000|0.650000 0.86243|0.86243 GCC|CGC MLLT4-013 PUTATIVE basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000372077.1 + ENST00000447894.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP CKAP5 9793 broad.mit.edu 37 11 46765604 46765604 + Missense_Mutation SNP C C A TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr11:46765604C>A ENST00000529230.1 - 44.0 6114 c.6068G>T c.(6067-6069)aGa>aTa p.R2023I CKAP5_ENST00000354558.3_Missense_Mutation_p.R1963I|CKAP5_ENST00000415402.1_Missense_Mutation_p.R2030I|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1963I Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 2023.0 centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051) centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922) 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) 43.0 TCTCTCCAGTCTTTTTTTCAA 0.473 Ovarian(4;85 273 2202 4844 13323) 0 92.0 83.0 86.0 11 46765604.0 2201.0 4299.0 6500.0 SO:0001583 missense CCDS7924.1, CCDS31477.1 11p11.2 2006-09-20 ENSG00000175216 ENSG00000175216 9793.0 9793.0 28959.0 protein-coding gene gene with protein product 611142.0 7788527, 8536682 Standard NM_014756 NM_014756 Approved ch-TOG, KIAA0097, TOG, TOGp uc001ndi.2 Q14008 OTTHUMG00000166599 ENST00000529230.1:c.6068G>T 11.__UNKNOWN__:g.46765604C>A ENSP00000432768:p.Arg2023Ile Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4 __UNKNOWN__ CCDS31477.1 . . . . . . . . . . C 32 5.121436 0.94385 . . ENSG00000175216 ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558 T;T;T;T 0.68479 0.1;0.09;-0.33;-0.33 5.55 5.55 0.83447 . 0.000000 0.85682 D 0.000000 T 0.81706 0.4879 M 0.68952 2.095 0.80722 D 1 D;D;D 0.76494 0.999;0.997;0.995 D;D;D 0.83275 0.996;0.994;0.986 T 0.82924 -0.0216 10 0.87932 D 0 -10.801 19.5008 0.95093 0.0:1.0:0.0:0.0 . 2030;1963;2023 Q14008-3;Q14008-2;Q14008 .;.;CKAP5_HUMAN I 2023;2030;1963;1963 ENSP00000432768:R2023I;ENSP00000395302:R2030I;ENSP00000310227:R1963I;ENSP00000346566:R1963I ENSP00000310227:R1963I R - 2 0 CKAP5 46722180 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.487000 0.81328 2.620000 0.88729 0.655000 0.94253 AGA CKAP5-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390679.1 - ENST00000529230.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP ITSN1 6453 broad.mit.edu 37 21 35154325 35154325 + Missense_Mutation SNP C C G TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr21:35154325C>G ENST00000399367.3 + 16.0 1975 c.1712C>G c.(1711-1713)gCc>gGc p.A571G ITSN1_ENST00000381318.3_Missense_Mutation_p.A571G|ITSN1_ENST00000399352.1_Missense_Mutation_p.A571G|ITSN1_ENST00000399338.4_Missense_Mutation_p.A571G|ITSN1_ENST00000399349.1_Missense_Mutation_p.A571G|ITSN1_ENST00000381291.4_Missense_Mutation_p.A571G|ITSN1_ENST00000437442.2_Missense_Mutation_p.A571G|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Missense_Mutation_p.A571G|ITSN1_ENST00000381285.4_Missense_Mutation_p.A571G|ITSN1_ENST00000399353.1_Missense_Mutation_p.A534G|ITSN1_ENST00000399326.3_Missense_Mutation_p.A571G|ITSN1_ENST00000379960.5_Missense_Mutation_p.A571G Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 571.0 KLERQ. apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488) cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202) calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67.0 CTTAAAAGAGCCTTAGAAGCA 0.348 0 75.0 76.0 75.0 21 35154325.0 2203.0 4300.0 6503.0 SO:0001583 missense AF064244 CCDS33545.1, CCDS33546.1 21q22.1-q22.2 2013-01-10 ENSG00000205726 ENSG00000205726 6453.0 6453.0 """Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing""" 6183.0 protein-coding gene gene with protein product """SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12""" 602442.0 SH3D1A, ITSN 9799604, 9813051 Standard NM_003024 NM_003024 Approved SH3P17, MGC134948, MGC134949 uc002yta.1 Q15811 OTTHUMG00000065284 ENST00000399367.3:c.1712C>G 21.__UNKNOWN__:g.35154325C>G ENSP00000382301:p.Ala571Gly A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92 __UNKNOWN__ . . . . . . . . . . C 26.5 4.739072 0.89573 . . ENSG00000205726 ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960 T;T;T;T;T;T;T;T;T;T;T;T 0.44482 1.53;2.49;2.49;2.49;1.53;1.53;2.49;1.53;1.53;1.53;1.53;0.92 5.81 5.81 0.92471 . 0.054858 0.64402 D 0.000001 T 0.57562 0.2062 L 0.44542 1.39 0.80722 D 1 D;D;D;D;D;D;D;D;B;D 0.76494 0.999;0.999;0.99;0.995;0.992;0.999;0.995;0.995;0.189;0.999 D;D;P;D;P;P;P;P;B;D 0.68765 0.96;0.942;0.76;0.93;0.793;0.883;0.844;0.844;0.214;0.942 T 0.45571 -0.9252 10 0.28530 T 0.3 . 20.0787 0.97763 0.0:1.0:0.0:0.0 . 534;534;534;571;571;571;571;571;571;534 A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0 .;.;.;.;.;.;.;ITSN1_HUMAN;.;. G 534;571;571;571;571;571;571;571;571;571;571;571;571;571 ENSP00000382290:A534G;ENSP00000370719:A571G;ENSP00000370691:A571G;ENSP00000370685:A571G;ENSP00000382301:A571G;ENSP00000382289:A571G;ENSP00000382292:A571G;ENSP00000382286:A571G;ENSP00000382275:A571G;ENSP00000387377:A571G;ENSP00000382265:A571G;ENSP00000369294:A571G ENSP00000369294:A571G A + 2 0 ITSN1 34076195 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 4.659000 0.61504 2.750000 0.94351 0.637000 0.83480 GCC ITSN1-023 NOVEL basic|appris_principal protein_coding protein_coding OTTHUMT00000313582.1 + ENST00000399367.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP BRE 9577 broad.mit.edu 37 2 28550178 28550178 + Missense_Mutation SNP G G A TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr2:28550178G>A ENST00000342045.2 + 13.0 1229 BRE_ENST00000344773.2_Missense_Mutation_p.E376K|BRE_ENST00000379624.1_Intron|BRE_ENST00000361704.2_Intron|BRE_ENST00000379632.2_Intron NM_199194.2 NP_954664.1 brain and reproductive organ-expressed (TNFRSF1A modulator) NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23.0 Acute lymphoblastic leukemia(172;0.155) CAGCCCGTGGGAGCAAGTCCT 0.617 0 64.0 72.0 69.0 2 28550178.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AF015767 CCDS1763.1, CCDS1764.1, CCDS1765.1 2p23 2008-02-05 ENSG00000158019 ENSG00000158019 9577.0 9577.0 1106.0 protein-coding gene gene with protein product """BRCA1/BRCA2-containing complex, subunit 4""" 610497.0 9737713, 7826398 Standard NM_004899 Approved BRCC45, BRCC4 uc002rls.3 Q9NXR7 OTTHUMG00000097831 ENST00000342045.2:c.1089-11139G>A 2.__UNKNOWN__:g.28550178G>A __UNKNOWN__ CCDS1763.1 . . . . . . . . . . G 9.006 0.981409 0.18812 . . ENSG00000158019 ENST00000344773 . . . 2.04 0.0234 0.14137 . . . . . T 0.20047 0.0482 . . . 0.09310 N 1 B 0.19935 0.04 B 0.12837 0.008 T 0.20338 -1.0278 7 0.36615 T 0.2 2.9872 2.4169 0.04438 0.1813:0.0:0.5257:0.2931 . 376 Q9NXR7-1 . K 376 . ENSP00000343412:E376K E + 1 0 BRE 28403682 0.000000 0.05858 0.000000 0.03702 0.476000 0.33039 0.039000 0.13884 -0.002000 0.14469 0.305000 0.20034 GAG BRE-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000215114.1 + ENST00000342045.2 Intron SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP RALGAPB 57148 broad.mit.edu 37 20 37153542 37153542 + Missense_Mutation SNP G G A TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr20:37153542G>A ENST00000397042.3 + 11.0 2025 c.1741G>A c.(1741-1743)Gtg>Atg p.V581M RALGAPB_ENST00000397040.1_Missense_Mutation_p.V581M|RALGAPB_ENST00000397038.1_Missense_Mutation_p.V359M|RALGAPB_ENST00000262879.6_Missense_Mutation_p.V581M NM_001282918.1 NP_001269847.1 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 581.0 activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178) protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123) 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) 65.0 GATTGATGTTGTGGTTCCTTA 0.408 0 300.0 276.0 284.0 20 37153542.0 2203.0 4300.0 6503.0 SO:0001583 missense AB033045 CCDS13305.1, CCDS63272.1 20q11.23 2009-09-09 2009-09-09 2009-09-09 ENSG00000170471 ENSG00000170471 57148.0 57148.0 29221.0 protein-coding gene gene with protein product """KIAA1219""" KIAA1219 19520869 Standard NM_020336 XM_005260462 Approved DKFZp781M2411, RalGAPbeta uc002xiw.3 Q86X10 OTTHUMG00000140270 ENST00000397042.3:c.1741G>A 20.__UNKNOWN__:g.37153542G>A ENSP00000380235:p.Val581Met A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9 __UNKNOWN__ . . . . . . . . . . G 19.65 3.867695 0.72065 . . ENSG00000170471 ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490 T;T 0.68765 -0.35;-0.35 5.51 5.51 0.81932 . 0.000000 0.85682 D 0.000000 T 0.63212 0.2492 L 0.50333 1.59 0.80722 D 1 P;P;P;P 0.41131 0.571;0.739;0.739;0.739 B;B;B;B 0.39419 0.17;0.299;0.299;0.299 T 0.68769 -0.5321 10 0.87932 D 0 . 15.0702 0.72030 0.0:0.0:0.8575:0.1425 . 409;581;581;581 A2A2F0;Q86X10-4;A2A2E9;Q86X10 .;.;.;RLGPB_HUMAN M 581;581;581;359;581;409 ENSP00000262879:V581M;ENSP00000380233:V581M ENSP00000262879:V581M V + 1 0 RALGAPB 36586956 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.453000 0.66645 2.587000 0.87381 0.561000 0.74099 GTG RALGAPB-005 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000079195.1 + ENST00000397042.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP MAL 4118 broad.mit.edu 37 2 95713828 95713828 + Missense_Mutation SNP A A G TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr2:95713828A>G ENST00000309988.4 + 2.0 327 c.218A>G c.(217-219)tAc>tGc p.Y73C MAL_ENST00000353004.3_Missense_Mutation_p.Y73C|MAL_ENST00000349807.3_Intron|MAL_ENST00000354078.3_Intron NM_002371.3 NP_002362.1 P21145 MAL_HUMAN mal, T-cell differentiation protein 73.0 MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}. apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121) channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2) 10.0 STAD - Stomach adenocarcinoma(1183;0.18) ATCATCCTGTACATAATTGGA 0.622 0 103.0 93.0 96.0 2 95713828.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1 2q11.1 2008-07-29 ENSG00000172005 ENSG00000172005 4118.0 4118.0 6817.0 protein-coding gene gene with protein product 188860.0 Standard NM_002371 NM_002371 Approved uc002stx.2 P21145 OTTHUMG00000132011 ENST00000309988.4:c.218A>G 2.__UNKNOWN__:g.95713828A>G ENSP00000310880:p.Tyr73Cys Q6FH77 __UNKNOWN__ CCDS2006.1 . . . . . . . . . . A 16.12 3.032609 0.54790 . . ENSG00000172005 ENST00000309988;ENST00000353004 T;T 0.50548 1.44;0.74 5.77 5.77 0.91146 Marvel (1);MARVEL-like domain (1); 0.050562 0.85682 D 0.000000 T 0.72350 0.3449 M 0.89414 3.03 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 T 0.77422 -0.2594 10 0.62326 D 0.03 . 12.4895 0.55891 1.0:0.0:0.0:0.0 . 73;73 P21145-2;P21145 .;MAL_HUMAN C 73 ENSP00000310880:Y73C;ENSP00000306568:Y73C ENSP00000310880:Y73C Y + 2 0 MAL 95077555 1.000000 0.71417 0.993000 0.49108 0.472000 0.32918 5.602000 0.67612 2.215000 0.71742 0.459000 0.35465 TAC MAL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254982.3 + ENST00000309988.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP TGM5 9333 broad.mit.edu 37 15 43527804 43527804 + Missense_Mutation SNP A A G TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr15:43527804A>G ENST00000220420.5 - 10.0 1584 c.1577T>C c.(1576-1578)gTc>gCc p.V526A TGM5_ENST00000349114.4_Missense_Mutation_p.V444A NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 526.0 cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149) cytoplasm (GO:0005737) metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44.0 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) GGCCAGCAGGACAAAGCATAT 0.567 0 101.0 81.0 87.0 15 43527804.0 2203.0 4299.0 6502.0 SO:0001583 missense AF035960 CCDS32211.1, CCDS32212.1 15q15 2004-07-07 ENSG00000104055 9333.0 9333.0 """Transglutaminases""" 11781.0 protein-coding gene gene with protein product 603805.0 9452468, 11390390 Standard NM_004245 NM_201631 Approved TGX uc001zrd.2 O43548 ENST00000220420.5:c.1577T>C 15.__UNKNOWN__:g.43527804A>G ENSP00000220420:p.Val526Ala O43549|Q0VF40|Q9UEZ4 __UNKNOWN__ CCDS32212.1 . . . . . . . . . . A 0.028 -1.352464 0.01256 . . ENSG00000104055 ENST00000220420;ENST00000349114;ENST00000396996 T;T 0.68903 -0.36;-0.36 5.58 3.28 0.37604 Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1); 0.305350 0.31381 N 0.007754 T 0.43055 0.1230 N 0.20483 0.58 0.29222 N 0.873841 B;B 0.25719 0.114;0.132 B;B 0.27500 0.061;0.08 T 0.38351 -0.9665 10 0.05351 T 0.99 -22.3449 7.2404 0.26094 0.8237:0.0:0.1763:0.0 . 444;526 O43548-2;O43548 .;TGM5_HUMAN A 526;444;525 ENSP00000220420:V526A;ENSP00000220419:V444A ENSP00000220420:V526A V - 2 0 TGM5 41315096 0.328000 0.24687 0.996000 0.52242 0.088000 0.18126 0.858000 0.27845 0.410000 0.25675 -0.274000 0.10170 GTC TGM5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000432257.1 - ENST00000220420.5 Missense_Mutation SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP Unknown 100289259 bcgsc.ca 37 X 136743700 136743705 + RNA DEL CAGACC CAGACC - TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 CAGACC - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chrX:136743700_136743705delCAGACC RN7SL325P (65990 upstream) : RNU6-985P (26344 downstream) GTGAAGCTATCAGACCCAGGCTATCA 0.456 0 SO:0001628 intergenic_variant X.__UNKNOWN__:g.136743700_136743705delCAGACC __UNKNOWN__ 0.0 IGR DEL PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP ANKRD2 26287 ucsc.edu 37 10 99343471 99343471 + Missense_Mutation SNP C C T TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr10:99343471C>T ENST00000370655.1 + 9.0 1281 c.991C>T c.(991-993)Cca>Tca p.P331S ANKRD2_ENST00000455090.1_Missense_Mutation_p.P298S|ANKRD2_ENST00000298808.5_Missense_Mutation_p.P325S|ANKRD2_ENST00000307518.5_Missense_Mutation_p.P358S NM_020349.2 NP_065082.2 Q9GZV1 ANKR2_HUMAN ankyrin repeat domain 2 (stretch responsive muscle) 358.0 muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914) cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307) breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 7.0 all_hematologic(284;1.95e-06)|Colorectal(252;0.0163) Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241) TCAGCCTGTGCCAGCCCAGTG 0.662 0 31.0 26.0 28.0 10 99343471.0 2202.0 4300.0 6502.0 SO:0001583 missense AJ304805 CCDS7466.1, CCDS44468.1 10q23 2013-01-10 ENSG00000165887 ENSG00000165887 26287.0 26287.0 """Ankyrin repeat domain containing""" 495.0 protein-coding gene gene with protein product 610734 10873377, 15136035, 15677738 Standard NM_001129981 Approved ARPP uc001knw.3 Q9GZV1 OTTHUMG00000018860 ENST00000370655.1:c.991C>T 10.__UNKNOWN__:g.99343471C>T ENSP00000359689:p.Pro331Ser Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9 __UNKNOWN__ . . . . . . . . . . C 8.842 0.942440 0.18281 . . ENSG00000165887 ENST00000307518;ENST00000298808;ENST00000370655;ENST00000455090 T;T;T;T 0.59906 0.38;0.57;0.42;0.23 5.58 2.55 0.30701 . 0.180691 0.37393 N 0.002104 T 0.36717 0.0977 N 0.17082 0.46 0.09310 N 0.999999 B;B 0.12013 0.005;0.001 B;B 0.10450 0.005;0.002 T 0.21415 -1.0246 10 0.38643 T 0.18 -3.2447 8.2232 0.31554 0.0:0.6129:0.3016:0.0855 . 325;358 Q9GZV1-2;Q9GZV1 .;ANKR2_HUMAN S 358;325;331;298 ENSP00000306163:P358S;ENSP00000298808:P325S;ENSP00000359689:P331S;ENSP00000403114:P298S ENSP00000298808:P325S P + 1 0 ANKRD2 99333461 0.014000 0.17966 0.965000 0.40720 0.125000 0.20455 0.365000 0.20348 1.355000 0.45865 0.655000 0.94253 CCA ANKRD2-001 KNOWN basic protein_coding protein_coding OTTHUMT00000049728.1 + ENST00000370655.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP PIGR 5284 ucsc.edu 37 1 207109135 207109135 + Silent SNP C C T TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr1:207109135C>T ENST00000356495.4 - 5.0 1257 c.1074G>A c.(1072-1074)gtG>gtA p.V358V NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 358.0 detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) polymeric immunoglobulin receptor activity (GO:0001792) 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) 45.0 CCCCCTTCACCACAGTGGGGC 0.602 OREG0014186 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 27.0 30.0 29.0 1 207109135.0 2202.0 4300.0 6502.0 SO:0001819 synonymous_variant CCDS1474.1 1q31-q41 2013-01-11 ENSG00000162896 ENSG00000162896 5284.0 5284.0 """Immunoglobulin superfamily / V-set domain containing""" 8968.0 protein-coding gene gene with protein product 173880 Standard NM_002644 NM_002644 Approved uc001hez.3 P01833 OTTHUMG00000036581 ENST00000356495.4:c.1074G>A 1.__UNKNOWN__:g.207109135C>T 2165.0 Q68D81|Q8IZY7 __UNKNOWN__ CCDS1474.1 PIGR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000088975.1 - ENST00000356495.4 Silent SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP TTLL7 79739 ucsc.edu 37 1 84356033 84356033 + Missense_Mutation SNP T T A TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a e9327904-c709-4e09-92c8-42147d722c32 g.chr1:84356033T>A ENST00000260505.8 - 19.0 2717 c.2340A>T c.(2338-2340)caA>caT p.Q780H TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 780.0 cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095) cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) ligase activity (GO:0016874) kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29.0 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TCCACAGCCCTTGGCCACGAC 0.373 0 54.0 58.0 57.0 1 84356033.0 2203.0 4300.0 6503.0 SO:0001583 missense AY170843 CCDS690.2 1p31.1 2013-02-14 ENSG00000137941 ENSG00000137941 79739.0 79739.0 """Tubulin tyrosine ligase-like family""" 26242.0 protein-coding gene gene with protein product 15890843 Standard NM_024686 XM_005271208 Approved FLJ23033 uc001djc.3 Q6ZT98 OTTHUMG00000009932 ENST00000260505.8:c.2340A>T 1.__UNKNOWN__:g.84356033T>A ENSP00000260505:p.Gln780His Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4 __UNKNOWN__ CCDS690.2 . . . . . . . . . . T 19.65 3.867930 0.72065 . . ENSG00000137941 ENST00000260505;ENST00000370704 T 0.05382 3.45 5.12 2.73 0.32206 . 0.000000 0.85682 D 0.000000 T 0.11707 0.0285 M 0.71581 2.175 0.46564 D 0.999108 D 0.89917 1.0 D 0.85130 0.997 T 0.00915 -1.1516 10 0.87932 D 0 . 8.9705 0.35903 0.0:0.2172:0.0:0.7828 . 780 Q6ZT98 TTLL7_HUMAN H 780;557 ENSP00000260505:Q780H ENSP00000260505:Q780H Q - 3 2 TTLL7 84128621 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 2.393000 0.44442 0.334000 0.23590 0.528000 0.53228 CAA TTLL7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000027498.1 - ENST00000260505.8 Missense_Mutation SNP PCPG-TCGA-QR-A6GR-Normal-SM-5EQFP SH3TC1 54436 broad.mit.edu 37 4 8242527 8242527 + Missense_Mutation SNP A A G TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr4:8242527A>G ENST00000245105.3 + 18.0 3923 c.3856A>G c.(3856-3858)Atc>Gtc p.I1286V SH3TC1_ENST00000539824.1_Missense_Mutation_p.I1210V NM_018986.3 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 1286.0 NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33.0 GCTGGCCACCATCTACCACAA 0.612 NSCLC(145;2298 2623 35616 37297) 0 84.0 87.0 86.0 4 8242527.0 2203.0 4300.0 6503.0 SO:0001583 missense AK074093 CCDS3399.1 4p16.1 2013-01-11 ENSG00000125089 ENSG00000125089 54436.0 54436.0 """Tetratricopeptide (TTC) repeat domain containing""" 26009.0 protein-coding gene gene with protein product Standard NM_018986 NM_018986 Approved FLJ20356 uc003gkv.4 Q8TE82 OTTHUMG00000160934 ENST00000245105.3:c.3856A>G 4.__UNKNOWN__:g.8242527A>G ENSP00000245105:p.Ile1286Val Q4W5G5 __UNKNOWN__ CCDS3399.1 . . . . . . . . . . A 16.18 3.051497 0.55218 . . ENSG00000125089 ENST00000245105;ENST00000539824 T;T 0.76448 -1.02;-1.02 4.18 1.73 0.24493 Tetratricopeptide-like helical (1); 0.068244 0.64402 N 0.000020 T 0.73164 0.3552 L 0.54323 1.7 0.37746 D 0.925807 B 0.30511 0.282 B 0.39805 0.31 T 0.65784 -0.6084 9 . . . -21.9087 8.2853 0.31924 0.8343:0.0:0.1657:0.0 . 1286 Q8TE82 S3TC1_HUMAN V 1286;1210 ENSP00000245105:I1286V;ENSP00000441045:I1210V . I + 1 0 SH3TC1 8293427 1.000000 0.71417 1.000000 0.80357 0.969000 0.65631 2.575000 0.46025 0.207000 0.20607 0.444000 0.29173 ATC SH3TC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000206991.2 + ENST00000245105.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GS-Normal-SM-5EQFE SCUBE1 80274 broad.mit.edu 37 22 43606947 43606947 + Silent SNP G G T TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr22:43606947G>T ENST00000360835.4 - 18.0 2490 c.2364C>A c.(2362-2364)acC>acA p.T788T NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 788.0 adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260) cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897) calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31.0 all_neural(38;0.0414)|Ovarian(80;0.07) GTGTGACGTTGGTGGAGCCAT 0.642 0 204.0 181.0 189.0 22 43606947.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS14048.1 22q13 2008-07-01 ENSG00000159307 ENSG00000159307 80274.0 80274.0 13441.0 protein-coding gene gene with protein product 611746.0 11087664 Standard NM_173050 NM_173050 Approved uc003bdt.2 Q8IWY4 OTTHUMG00000150679 ENST00000360835.4:c.2364C>A 22.__UNKNOWN__:g.43606947G>T Q5R336 __UNKNOWN__ CCDS14048.1 SCUBE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000319582.3 - ENST00000360835.4 Silent SNP PCPG-TCGA-QR-A6GS-Normal-SM-5EQFE PTPN14 5784 broad.mit.edu 37 1 214546172 214546172 + Missense_Mutation SNP C C G TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr1:214546172C>G ENST00000366956.5 - 16.0 3112 c.2918G>C c.(2917-2919)gGc>gCc p.G973A PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 973.0 Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}. lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58.0 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TTCTGCCCCGCCAACCACCAC 0.527 Colon(92;557 1424 24372 34121 40073) 0 63.0 61.0 62.0 1 214546172.0 2203.0 4300.0 6503.0 SO:0001583 missense X82676 CCDS1514.1 1q32.2 2011-06-09 ENSG00000152104 ENSG00000152104 5784.0 5784.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor""" 9647.0 protein-coding gene gene with protein product 603155.0 7733990 Standard NM_005401 NM_005401 Approved PEZ uc001hkk.2 Q15678 OTTHUMG00000037039 ENST00000366956.5:c.2918G>C 1.__UNKNOWN__:g.214546172C>G ENSP00000355923:p.Gly973Ala Q5VSI0 __UNKNOWN__ CCDS1514.1 . . . . . . . . . . C 11.45 1.643596 0.29246 . . ENSG00000152104 ENST00000366956 D 0.83163 -1.69 5.4 2.21 0.28008 Protein-tyrosine phosphatase, receptor/non-receptor type (3); 0.162448 0.56097 D 0.000033 T 0.78848 0.4348 L 0.49513 1.565 0.80722 D 1 B 0.02656 0.0 B 0.01281 0.0 T 0.74150 -0.3758 10 0.39692 T 0.17 . 16.7287 0.85430 0.0:0.6401:0.3599:0.0 . 973 Q15678 PTN14_HUMAN A 973 ENSP00000355923:G973A ENSP00000355923:G973A G - 2 0 PTPN14 212612795 0.998000 0.40836 0.097000 0.21041 0.348000 0.29142 4.780000 0.62382 0.710000 0.31997 0.650000 0.86243 GGC PTPN14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000089918.2 - ENST00000366956.5 Missense_Mutation SNP PCPG-TCGA-QR-A6GS-Normal-SM-5EQFE NAPB 63908 broad.mit.edu 37 20 23375633 23375633 + Missense_Mutation SNP T T A TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr20:23375633T>A ENST00000377026.4 - 5.0 431 c.346A>T c.(346-348)Agg>Tgg p.R116W NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000432543.2_Missense_Mutation_p.R77W|NAPB_ENST00000398425.3_Missense_Mutation_p.R22W NM_001283018.1|NM_001283020.1|NM_022080.2 NP_001269947.1|NP_001269949.1|NP_071363.1 Q9H115 SNAB_HUMAN N-ethylmaleimide-sensitive factor attachment protein, beta 116.0 intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249) extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044) endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 12.0 Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143) ATTGTAAACCTTCCCTAGGGG 0.413 0 T TRP/ARG 0,4406 0,0,2203 137.0 121.0 126.0 346 3.1 1.0 20 126.0 1,8599 1.2+/-3.3 0,1,4299 no missense NAPB NM_022080.2 101 0,1,6502 AA,AT,TT 0.0116,0.0,0.0077 probably-damaging 116/299 23375633.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AK022817 CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1 20p12.3-p11.21 2008-08-01 ENSG00000125814 ENSG00000125814 63908.0 63908.0 15751.0 protein-coding gene gene with protein product 611270.0 8455721 Standard NM_022080 NM_022080 Approved SNAP-BETA, SNAPB uc002wta.3 Q9H115 OTTHUMG00000032062 ENST00000377026.4:c.346A>T 20.__UNKNOWN__:g.23375633T>A ENSP00000366225:p.Arg116Trp B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4 __UNKNOWN__ CCDS13152.1 . . . . . . . . . . T 18.18 3.567842 0.65651 0.0 1.16E-4 ENSG00000125814 ENST00000377026;ENST00000398425;ENST00000432543;ENST00000431864 T;T;T 0.38401 1.14;1.14;1.14 5.46 3.06 0.35304 Tetratricopeptide-like helical (1); 0.000000 0.85682 D 0.000000 T 0.71341 0.3328 H 0.97291 3.975 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.91635 0.999;0.999;0.999;0.999 T 0.78450 -0.2199 10 0.87932 D 0 -14.2689 12.2263 0.54461 0.0:0.0:0.4388:0.5612 . 77;22;120;116 B4DK44;Q4G0M0;B4DIV0;Q9H115 .;.;.;SNAB_HUMAN W 116;22;77;73 ENSP00000366225:R116W;ENSP00000381459:R22W;ENSP00000413600:R77W ENSP00000366225:R116W R - 1 2 NAPB 23323633 1.000000 0.71417 0.997000 0.53966 0.829000 0.46940 2.200000 0.42724 0.313000 0.23062 0.454000 0.30748 AGG NAPB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078317.2 - ENST00000377026.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GS-Normal-SM-5EQFE HMCN1 83872 broad.mit.edu 37 1 185892705 185892705 + Missense_Mutation SNP T T G TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr1:185892705T>G ENST00000271588.4 + 8.0 1434 c.1205T>G c.(1204-1206)tTt>tGt p.F402C HMCN1_ENST00000367492.2_Missense_Mutation_p.F402C NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 402.0 response to stimulus (GO:0050896)|visual perception (GO:0007601) basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509) 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) 308.0 GAAGCTTTCTTTCTCAAAGTA 0.353 0 112.0 112.0 112.0 1 185892705.0 2203.0 4299.0 6502.0 SO:0001583 missense AF156100 CCDS30956.1 1q25.3-q31.1 2013-01-11 ENSG00000143341 ENSG00000143341 83872.0 83872.0 """Fibulins"", ""Immunoglobulin superfamily / I-set domain containing""" 19194.0 protein-coding gene gene with protein product """fibulin 6""" 608548.0 """age-related macular degeneration 1 (senile macular degeneration)""" ARMD1 11222143 Standard NM_031935 NM_031935 Approved FBLN6, FIBL6, FIBL-6 uc001grq.1 Q96RW7 OTTHUMG00000059337 ENST00000271588.4:c.1205T>G 1.__UNKNOWN__:g.185892705T>G ENSP00000271588:p.Phe402Cys A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3 __UNKNOWN__ CCDS30956.1 . . . . . . . . . . T 19.50 3.838646 0.71373 . . ENSG00000143341 ENST00000271588;ENST00000367492 T;T 0.64618 -0.1;-0.11 5.49 5.49 0.81192 . 0.046319 0.85682 D 0.000000 T 0.75882 0.3910 M 0.63843 1.955 0.58432 D 0.999993 D 0.89917 1.0 D 0.67231 0.95 T 0.78373 -0.2229 10 0.66056 D 0.02 . 15.6023 0.76634 0.0:0.0:0.0:1.0 . 402 Q96RW7 HMCN1_HUMAN C 402 ENSP00000271588:F402C;ENSP00000356462:F402C ENSP00000271588:F402C F + 2 0 HMCN1 184159328 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 5.812000 0.69194 2.083000 0.62718 0.482000 0.46254 TTT HMCN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000131848.1 + ENST00000271588.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GS-Normal-SM-5EQFE NF1 4763 broad.mit.edu 37 17 29541604 29541604 + Splice_Site SNP G G T TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr17:29541604G>T ENST00000358273.4 + 13.0 1910 c.e13+1 NF1_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060) axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634) phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099) p.0?(8)|p.?(5) 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) 599.0 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) CTTGCTTTGTGTAAGTATTTT 0.348 """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) yes Rec yes Neurofibromatosis type 1 17 17q12 4763.0 neurofibromatosis type 1 gene O 13 Whole gene deletion(8)|Unknown(5) soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1) GRCh37 CD000959|CS040856|CS086407|CS993383 NF1 D|S 40.0 41.0 41.0 17 29541604.0 2203.0 4298.0 6501.0 SO:0001630 splice_region_variant Familial Cancer Database NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome CCDS11264.1, CCDS42292.1, CCDS45645.1 17q11.2 2014-09-17 2008-07-31 ENSG00000196712 ENSG00000196712 4763.0 4763.0 7765.0 protein-coding gene gene with protein product """neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease""" 613113.0 1715669 Standard NM_000267 NM_000267 Approved uc002hgg.3 P21359 OTTHUMG00000132871 ENST00000358273.4:c.1527+1G>T 17.__UNKNOWN__:g.29541604G>T O00662|Q14284|Q14930|Q14931|Q9UMK3 __UNKNOWN__ CCDS42292.1 . . . . . . . . . . G 23.8 4.461406 0.84317 . . ENSG00000196712 ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735 . . . 5.33 5.33 0.75918 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 19.0231 0.92922 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . NF1 26565730 1.000000 0.71417 1.000000 0.80357 0.958000 0.62258 9.216000 0.95154 2.493000 0.84123 0.591000 0.81541 . NF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256351.2 Intron + ENST00000358273.4 Splice_Site SNP PCPG-TCGA-QR-A6GS-Normal-SM-5EQFE RBM47 54502 broad.mit.edu 37 4 40440293 40440293 + Silent SNP C C T TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr4:40440293C>T ENST00000381793.2 - 3.0 1014 c.618G>A c.(616-618)gcG>gcA p.A206A RBM47_ENST00000319592.4_Silent_p.A206A|RBM47_ENST00000514014.1_Silent_p.A168A|RBM47_ENST00000381795.6_Silent_p.A206A|RBM47_ENST00000295971.7_Silent_p.A206A|RBM47_ENST00000515809.1_Intron A0AV96 RBM47_HUMAN RNA binding motif protein 47 206.0 RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}. hematopoietic progenitor cell differentiation (GO:0002244) nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29.0 CCATGGCAGCCGCGCGGTGGC 0.672 0 42.0 39.0 40.0 4 40440293.0 2203.0 4298.0 6501.0 SO:0001819 synonymous_variant AK000280 CCDS3460.1, CCDS43223.1 4p14 2013-02-12 ENSG00000163694 ENSG00000163694 54502.0 54502.0 """RNA binding motif (RRM) containing""" 30358.0 protein-coding gene gene with protein product Standard NM_019027 NM_019027 Approved FLJ20273, NET18 uc003gvc.2 A0AV96 OTTHUMG00000128598 ENST00000381793.2:c.618G>A 4.__UNKNOWN__:g.40440293C>T A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3 __UNKNOWN__ CCDS43223.1 RBM47-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250456.2 - ENST00000381793.2 Silent SNP PCPG-TCGA-QR-A6GS-Normal-SM-5EQFE AMBN 258 broad.mit.edu 37 4 71467156 71467156 + Missense_Mutation SNP C C T TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr4:71467156C>T ENST00000322937.6 + 6.0 419 c.316C>T c.(316-318)Cat>Tat p.H106Y AMBN_ENST00000449493.2_Intron NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 106.0 biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475) proteinaceous extracellular matrix (GO:0005578) growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29.0 Lung(101;0.235) TTTGCCTGTGCATCCCCCACC 0.488 OREG0016218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 123.0 129.0 127.0 4 71467156.0 2203.0 4300.0 6503.0 SO:0001583 missense AF209780 CCDS3543.1 4q21 2006-11-28 2006-04-27 ENSG00000178522 ENSG00000178522 258.0 258.0 452.0 protein-coding gene gene with protein product 601259.0 """ameloblastin, enamel matrix protein""" 9126491 Standard NM_016519 NM_016519 Approved uc003hfl.3 Q9NP70 OTTHUMG00000129913 ENST00000322937.6:c.316C>T 4.__UNKNOWN__:g.71467156C>T ENSP00000313809:p.His106Tyr 1130.0 Q3B862|Q9H2X1|Q9H4L1 __UNKNOWN__ CCDS3543.1 . . . . . . . . . . C 21.8 4.198096 0.79015 . . ENSG00000178522 ENST00000322937;ENST00000538728 T 0.35421 1.31 5.74 5.74 0.90152 . 0.000000 0.64402 D 0.000001 T 0.60170 0.2248 M 0.69823 2.125 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.62086 -0.6928 10 0.87932 D 0 -17.133 15.4216 0.75015 0.0:1.0:0.0:0.0 . 106 Q9NP70 AMBN_HUMAN Y 106 ENSP00000313809:H106Y ENSP00000313809:H106Y H + 1 0 AMBN 71501745 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 3.788000 0.55446 2.716000 0.92895 0.563000 0.77884 CAT AMBN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252165.1 + ENST00000322937.6 Missense_Mutation SNP PCPG-TCGA-QR-A6GS-Normal-SM-5EQFE GPR64 10149 broad.mit.edu 37 X 19027845 19027845 + Missense_Mutation SNP T T C TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chrX:19027845T>C ENST00000357991.3 - 18.0 1377 c.1312A>G c.(1312-1314)Ata>Gta p.I438V GPR64_ENST00000379873.2_Missense_Mutation_p.I441V|GPR64_ENST00000360279.4_Missense_Mutation_p.I419V|GPR64_ENST00000379876.1_Missense_Mutation_p.I417V|GPR64_ENST00000379869.3_Missense_Mutation_p.I441V|GPR64_ENST00000354791.3_Missense_Mutation_p.I425V|GPR64_ENST00000357544.3_Missense_Mutation_p.I411V|GPR64_ENST00000356606.4_Missense_Mutation_p.I427V|GPR64_ENST00000379878.3_Missense_Mutation_p.I425V|GPR64_ENST00000340581.3_Missense_Mutation_p.I411V Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 441.0 G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283) apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) G-protein coupled receptor activity (GO:0004930) breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42.0 Hepatocellular(33;0.183) GTTAGACTTATAGTCGTGTTT 0.393 0 133.0 112.0 119.0 X 19027845.0 2203.0 4300.0 6503.0 SO:0001583 missense X81892 CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1 Xp22.13 2014-08-08 ENSG00000173698 ENSG00000173698 10149.0 10149.0 """-"", ""GPCR / Class B : Orphans""" 4516.0 protein-coding gene gene with protein product """epididymal protein 6""" 300572.0 9739419, 9150425 Standard NM_005756 Approved HE6, TM7LN2, EDDM6 uc004cyx.3 Q8IZP9 OTTHUMG00000021223 ENST00000357991.3:c.1312A>G X.__UNKNOWN__:g.19027845T>C ENSP00000350680:p.Ile438Val B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4 __UNKNOWN__ CCDS14191.1 . . . . . . . . . . T 10.34 1.322015 0.23994 . . ENSG00000173698 ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581 T;T;T;T;T;T;T;T;T;T 0.35973 1.35;1.47;1.47;1.48;1.48;1.51;1.48;1.51;1.51;1.28 6.17 5.0 0.66597 . 0.000000 0.64402 D 0.000005 T 0.26882 0.0658 L 0.35487 1.065 0.09310 N 0.999996 B;B;B;B;B;B;B;B;B;B;B 0.31790 0.296;0.232;0.34;0.057;0.057;0.34;0.34;0.34;0.34;0.057;0.23 B;B;B;B;B;B;B;B;B;B;B 0.36959 0.068;0.113;0.237;0.054;0.054;0.237;0.237;0.237;0.237;0.082;0.119 T 0.20874 -1.0262 10 0.32370 T 0.25 . 4.7154 0.12893 0.1435:0.1606:0.0:0.6959 . 411;403;411;417;425;441;419;427;438;441;425 Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1 .;.;.;.;.;.;.;.;.;GPR64_HUMAN;. V 441;425;425;417;411;441;419;438;427;411 ENSP00000369202:I441V;ENSP00000369207:I425V;ENSP00000346845:I425V;ENSP00000369205:I417V;ENSP00000350152:I411V;ENSP00000369198:I441V;ENSP00000353421:I419V;ENSP00000350680:I438V;ENSP00000349015:I427V;ENSP00000344972:I411V ENSP00000344972:I411V I - 1 0 GPR64 18937766 0.948000 0.32251 0.727000 0.30756 0.877000 0.50540 1.084000 0.30828 0.919000 0.36945 0.486000 0.48141 ATA GPR64-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055973.2 - ENST00000357991.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GS-Normal-SM-5EQFE GCHFR 2644 broad.mit.edu 37 15 41059517 41059517 + Missense_Mutation SNP G G C TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr15:41059517G>C ENST00000559932.1 + 3.0 372 c.174G>C c.(172-174)caG>caC p.Q58H GCHFR_ENST00000260447.4_Missense_Mutation_p.Q75H|GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000558467.1_Missense_Mutation_p.Q58H|GCHFR_ENST00000559445.1_Missense_Mutation_p.Q64H P30047 GFRP_HUMAN GTP cyclohydrolase I feedback regulator 75.0 negative regulation of biosynthetic process (GO:0009890)|negative regulation of GTP cyclohydrolase I activity (GO:0043105)|neurotransmitter metabolic process (GO:0042133)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|protein heterooligomerization (GO:0051291)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome (GO:0042470)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234) amino acid binding (GO:0016597)|enzyme inhibitor activity (GO:0004857) endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1) 6.0 all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163) GGGTGGGCCAGACGCTGGTGT 0.602 0 114.0 105.0 108.0 15 41059517.0 2203.0 4300.0 6503.0 SO:0001583 missense U78190 CCDS10064.1 15q15 2004-01-19 2004-05-20 ENSG00000137880 ENSG00000137880 2644.0 2644.0 4194.0 protein-coding gene gene with protein product 602437.0 """GTP cyclohydrolase I feedback regulatory protein""" 8702680, 1286669 Standard NM_005258 NM_005258 Approved GFRP, HsT16933 uc001zmr.1 P30047 OTTHUMG00000130069 ENST00000559932.1:c.174G>C 15.__UNKNOWN__:g.41059517G>C ENSP00000454195:p.Gln58His B2R4L6|B7ZLM8|Q2M1Q2|Q99749 __UNKNOWN__ . . . . . . . . . . G 27.4 4.831679 0.91036 . . ENSG00000137880 ENST00000260447 . . . 5.63 5.63 0.86233 . 0.000000 0.85682 D 0.000000 D 0.83626 0.5295 . . . 0.80722 D 1 D;D 0.76494 0.997;0.999 D;D 0.87578 0.997;0.998 D 0.84553 0.0645 8 0.66056 D 0.02 -21.6276 19.642 0.95762 0.0:0.0:1.0:0.0 . 64;75 B7ZLM8;P30047 .;GFRP_HUMAN H 75 . ENSP00000260447:Q75H Q + 3 2 GCHFR 38846809 1.000000 0.71417 1.000000 0.80357 0.981000 0.71138 6.152000 0.71812 2.815000 0.96918 0.561000 0.74099 CAG GCHFR-005 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000418972.1 + ENST00000559932.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GS-Normal-SM-5EQFE TTN 7273 broad.mit.edu 37 2 179398050 179398050 + Missense_Mutation SNP G G A TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr2:179398050G>A ENST00000589042.1 - 358.0 103516 c.103292C>T c.(103291-103293)aCg>aTg p.T34431M TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T31863M|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T25491M|TTN_ENST00000460472.2_Missense_Mutation_p.T25366M|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T25558M|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T32790M|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591867.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32790.0 adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) 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) 1448.0 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATAATAACCCGTGTCTTCAGG 0.488 G 2.0 0.0009 2184.0 0.9998 , , 0.0002 0.0026 0.001 0.9135 LOWCOV 0.0005 SNP 0 G MET/THR,MET/THR,MET/THR,MET/THR 0,3992 0,0,1996 75.0 74.0 74.0 76097,95588,76472,76673 5.7 1.0 2 74.0 10,8336 0,10,4163 yes missense,missense,missense,missense TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 81,81,81,81 0,10,6159 AA,AG,GG 0.1198,0.0,0.0811 probably-damaging,probably-damaging,probably-damaging,probably-damaging 25366/26927,31863/33424,25491/27052,25558/27119 179398050.0 10,12328 1996.0 4173.0 6169.0 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273.0 7273.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403.0 protein-coding gene gene with protein product 188840.0 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_133378 NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.103292C>T 2.__UNKNOWN__:g.179398050G>A ENSP00000467141:p.Thr34431Met A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 __UNKNOWN__ CCDS59435.1 2 9.157509157509158E-4 0 0.0 0 0.0 0 0.0 2 0.002638522427440633 G 16.18 3.049212 0.55110 0.0 0.001198 ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.66280 -0.2;-0.2;-0.2;-0.2 5.67 5.67 0.87782 Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.69305 0.3096 L 0.41961 1.31 0.36384 D 0.862113 D;D;D;D 0.71674 0.998;0.998;0.998;0.998 P;P;P;P 0.58577 0.841;0.841;0.841;0.841 T 0.76397 -0.2974 9 0.87932 D 0 . 15.3087 0.74014 0.0:0.1806:0.8194:0.0 . 25366;25491;25558;32790 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN M 31863;25366;25558;25491;25363 ENSP00000343764:T31863M;ENSP00000434586:T25366M;ENSP00000340554:T25558M;ENSP00000352154:T25491M ENSP00000340554:T25558M T - 2 0 TTN 179106296 1.000000 0.71417 0.978000 0.43139 0.982000 0.71751 5.301000 0.65727 2.688000 0.91661 0.555000 0.69702 ACG TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 - ENST00000589042.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GS-Normal-SM-5EQFE CEP152 22995 broad.mit.edu 37 15 49033855 49033855 + Missense_Mutation SNP C C T TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr15:49033855C>T ENST00000380950.2 - 26.0 4223 c.4036G>A c.(4036-4038)Gca>Aca p.A1346T CEP152_ENST00000325747.5_Missense_Mutation_p.A1253T|CEP152_ENST00000399334.3_Missense_Mutation_p.A1290T NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 1346.0 cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278) centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634) protein kinase binding (GO:0019901) breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63.0 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) AGTAATTTTGCCATTGTAGCA 0.353 0 204.0 192.0 196.0 15 49033855.0 1839.0 4098.0 5937.0 SO:0001583 missense AB020719 CCDS42033.1, CCDS58361.1 15q21.1 2014-02-20 22995.0 22995.0 29298.0 protein-coding gene gene with protein product """asterless""" 613529.0 """microcephaly, primary autosomal recessive 4""" MCPH4 14654843, 21131973 Standard NM_014985 NM_014985 Approved KIAA0912, SCKL5 uc001zwz.3 O94986 ENST00000380950.2:c.4036G>A 15.__UNKNOWN__:g.49033855C>T ENSP00000370337:p.Ala1346Thr E7ER66|Q17RV1|Q6NTA0 __UNKNOWN__ CCDS58361.1 . . . . . . . . . . C 33 5.254549 0.95336 . . ENSG00000103995 ENST00000380950;ENST00000325747;ENST00000399334 T;T;T 0.70869 -0.23;-0.52;-0.12 5.87 5.87 0.94306 . 0.066466 0.64402 D 0.000015 D 0.83413 0.5249 M 0.68593 2.085 0.58432 D 0.999998 D;D;D 0.76494 0.992;0.999;0.999 P;D;D 0.66847 0.856;0.947;0.947 D 0.83759 0.0213 10 0.72032 D 0.01 -8.8947 20.2147 0.98293 0.0:1.0:0.0:0.0 . 1253;1346;1290 O94986-1;E7ER66;O94986 .;.;CE152_HUMAN T 1346;1253;1290 ENSP00000370337:A1346T;ENSP00000321000:A1253T;ENSP00000382271:A1290T ENSP00000321000:A1253T A - 1 0 CEP152 46821147 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 7.247000 0.78257 2.785000 0.95823 0.591000 0.81541 GCA CEP152-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000417365.1 - ENST00000380950.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GS-Normal-SM-5EQFE KRT83 3889 broad.mit.edu 37 12 52714802 52714802 + Nonsense_Mutation SNP G G T TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr12:52714802G>T ENST00000293670.3 - 1.0 380 c.318C>A c.(316-318)tgC>tgA p.C106* NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 106.0 Head. aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633) extracellular space (GO:0005615)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32.0 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CCTGCTTCACGCACTGCGCGT 0.617 GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861) 0 196.0 173.0 181.0 12 52714802.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained X99141 CCDS8823.1 12q13.13 2013-06-20 2006-07-17 2006-07-17 ENSG00000170523 ENSG00000170523 3889.0 3889.0 """-"", ""Intermediate filaments type II, keratins (basic)""" 6460.0 protein-coding gene gene with protein product """hard keratin type II""" 602765.0 """keratin, hair, basic, 3""" KRTHB3 9084137, 16831889 Standard NM_002282 NM_002282 Approved Hb-3 uc001saf.2 P78385 OTTHUMG00000169632 ENST00000293670.3:c.318C>A 12.__UNKNOWN__:g.52714802G>T ENSP00000293670:p.Cys106* A1A4S9|B2RC21|Q6NT21|Q9NSB3 __UNKNOWN__ CCDS8823.1 . . . . . . . . . . G 32 5.170263 0.94768 . . ENSG00000170523 ENST00000293670 . . . 4.69 1.82 0.25136 . 0.180281 0.26951 N 0.021677 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.25106 T 0.35 . 0.4251 0.00462 0.2453:0.1922:0.3269:0.2356 . . . . X 106 . ENSP00000293670:C106X C - 3 2 KRT83 51001069 0.000000 0.05858 1.000000 0.80357 0.997000 0.91878 -1.306000 0.02735 0.676000 0.31285 0.650000 0.86243 TGC KRT83-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405182.1 - ENST00000293670.3 Nonsense_Mutation SNP PCPG-TCGA-QR-A6GS-Normal-SM-5EQFE FLG2 388698 broad.mit.edu 37 1 152327955 152327955 + Silent SNP G G A TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr1:152327955G>A ENST00000388718.5 - 3.0 2379 c.2307C>T c.(2305-2307)agC>agT p.S769S FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 769.0 Ser-rich. establishment of skin barrier (GO:0061436) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198) p.S769S(1) 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) 188.0 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTTGGCCATAGCTAGACTGAC 0.517 1 Substitution - coding silent(1) kidney(1) 412.0 337.0 362.0 1 152327955.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AY827490 CCDS30861.1 1q21.3 2013-01-10 ENSG00000143520 ENSG00000143520 388698.0 388698.0 """EF-hand domain containing""" 33276.0 protein-coding gene gene with protein product 12477932 Standard NM_001014342 NM_001014342 Approved IFPS uc001ezw.4 Q5D862 OTTHUMG00000012245 ENST00000388718.5:c.2307C>T 1.__UNKNOWN__:g.152327955G>A Q9H4U1 __UNKNOWN__ CCDS30861.1 FLG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000034018.5 - ENST00000388718.5 Silent SNP PCPG-TCGA-QR-A6GS-Normal-SM-5EQFE PDE4D 5144 broad.mit.edu 37 5 58273098 58273098 + Missense_Mutation SNP G G T TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr5:58273098G>T ENST00000507116.1 - 12.0 1570 c.1435C>A c.(1435-1437)Ctt>Att p.L479I PDE4D_ENST00000405755.2_Missense_Mutation_p.L421I|PDE4D_ENST00000358923.6_Missense_Mutation_p.L241I|PDE4D_ENST00000340635.6_Missense_Mutation_p.L543I|PDE4D_ENST00000502484.2_Missense_Mutation_p.L482I|PDE4D_ENST00000317118.8_Missense_Mutation_p.L252I|PDE4D_ENST00000503258.1_Missense_Mutation_p.L413I|PDE4D_ENST00000360047.5_Missense_Mutation_p.L407I|PDE4D_ENST00000546160.1_Missense_Mutation_p.L482I NM_001197218.1 NP_001184147.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 543.0 adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852) calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886) 3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15.0 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)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656) TCTTCCTGAAGCAATTTAAAG 0.368 0 134.0 124.0 127.0 5 58273098.0 1835.0 4092.0 5927.0 SO:0001583 missense CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1 5q12 2010-06-24 2010-06-24 5144.0 5144.0 3.1.4.17 """Phosphodiesterases""" 8783.0 protein-coding gene gene with protein product """phosphodiesterase E3 dunce homolog (Drosophila)""" 600129.0 """phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)""" DPDE3 Standard NM_006203 Approved uc003jsa.2 Q08499 ENST00000507116.1:c.1435C>A 5.__UNKNOWN__:g.58273098G>T ENSP00000424852:p.Leu479Ile O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7 __UNKNOWN__ CCDS56373.1 . . . . . . . . . . G 23.7 4.452141 0.84209 . . ENSG00000113448 ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453 T;T;T;T;T;T;T;T;T;T 0.79247 -1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25 5.56 5.56 0.83823 Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2); 0.060455 0.64402 D 0.000002 D 0.86661 0.5986 M 0.71296 2.17 0.58432 D 0.999997 P;D;P;D;D;P;P;P 0.59767 0.938;0.98;0.938;0.986;0.986;0.938;0.692;0.817 D;D;D;D;D;D;P;P 0.77004 0.973;0.989;0.973;0.966;0.966;0.973;0.649;0.63 D 0.87189 0.2233 10 0.87932 D 0 . 13.9106 0.63864 0.0722:0.0:0.9278:0.0 . 482;543;479;406;421;413;318;252 Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8 .;PDE4D_HUMAN;.;.;.;.;.;. I 543;412;407;479;241;252;413;421;482;482;241 ENSP00000345502:L543I;ENSP00000353152:L407I;ENSP00000424852:L479I;ENSP00000351800:L241I;ENSP00000321739:L252I;ENSP00000425605:L413I;ENSP00000384806:L421I;ENSP00000423094:L482I;ENSP00000442734:L482I;ENSP00000421013:L241I ENSP00000321739:L252I L - 1 0 PDE4D 58308855 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.826000 0.86716 2.890000 0.99128 0.655000 0.94253 CTT PDE4D-012 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000368103.2 - ENST00000507116.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GS-Normal-SM-5EQFE ZNF324B 388569 broad.mit.edu 37 19 58963019 58963019 + Translation_Start_Site SNP G G A TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr19:58963019G>A ENST00000336614.4 + 0.0 49 ZNF324B_ENST00000594214.1_De_novo_Start_OutOfFrame|ZNF324B_ENST00000391696.1_De_novo_Start_OutOfFrame|ZNF324B_ENST00000545523.1_De_novo_Start_InFrame NM_207395.2 NP_997278.2 Q6AW86 Z324B_HUMAN zinc finger protein 324B regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20.0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) AGGCCACACCGGTGGTCTGGG 0.706 0 30.0 34.0 33.0 19 58963019.0 876.0 1991.0 2867.0 AK127750 CCDS33138.1 19q13.43 2013-01-08 ENSG00000249471 388569.0 388569.0 """Zinc fingers, C2H2-type"", ""-""" 33107.0 protein-coding gene gene with protein product Standard NM_207395 NM_207395 Approved FLJ45850 uc002qsv.1 Q6AW86 ENST00000336614.4:c.-59G>A 19.__UNKNOWN__:g.58963019G>A B2RTZ6|Q6ZMX8|Q6ZS42 __UNKNOWN__ CCDS33138.1 ZNF324B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000467038.1 + ENST00000336614.4 De_novo_Start_OutOfFrame SNP PCPG-TCGA-QR-A6GS-Normal-SM-5EQFE Unknown 0 bcgsc.ca 37 8 64048969 64048969 + RNA SNP C C T TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr8:64048969C>T TTPA (50357 upstream) : YTHDF3-AS1 (31314 downstream) CCACCATCTACATTCCCCAGC 0.413 0 SO:0001628 intergenic_variant 8.__UNKNOWN__:g.64048969C>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A6GS-Normal-SM-5EQFE Unknown 6719 bcgsc.ca 37 X 138529402 138529402 + RNA SNP C C T TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chrX:138529402C>T FGF13 (243133 upstream) : F9 (83514 downstream) CCACTGTTGGCGTGCACAATG 0.493 0 SO:0001628 intergenic_variant X.__UNKNOWN__:g.138529402C>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A6GS-Normal-SM-5EQFE EYA2 2139 ucsc.edu 37 20 45808494 45808494 + Missense_Mutation SNP A A G TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr20:45808494A>G ENST00000327619.5 + 13.0 1621 c.1247A>G c.(1246-1248)gAg>gGg p.E416G EYA2_ENST00000357410.3_Intron|EYA2_ENST00000317304.6_Missense_Mutation_p.E386G NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN EYA transcriptional coactivator and phosphatase 2 416.0 DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351) centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634) magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725) 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) 32.0 Myeloproliferative disorder(115;0.0241) CTCCGAGCTGAGCTGGAAGCT 0.527 Pancreas(120;56 1725 18501 25218 43520) 0 66.0 57.0 60.0 20 45808494.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS13403.1, CCDS54471.1 20q13.1 2014-06-19 2014-06-19 ENSG00000064655 ENSG00000064655 2139.0 2139.0 """Protein tyrosine phosphatases / Asp-based PTPs""" 3520.0 protein-coding gene gene with protein product 601654 """eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)""" 9020840 Standard NM_005244 NM_005244 Approved EAB1 uc002xsm.3 O00167 OTTHUMG00000033041 ENST00000327619.5:c.1247A>G 20.__UNKNOWN__:g.45808494A>G ENSP00000333640:p.Glu416Gly Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7 __UNKNOWN__ CCDS13403.1 . . . . . . . . . . A 27.6 4.843262 0.91197 . . ENSG00000064655 ENST00000327619;ENST00000484200;ENST00000317304 D;D 0.83755 -1.76;-1.76 5.46 5.46 0.80206 EYA (1);Haloacid dehalogenase-like hydrolase (1); 0.000000 0.85682 D 0.000000 D 0.91978 0.7459 M 0.86502 2.82 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.77004 0.989;0.982;0.975 D 0.93379 0.6742 10 0.87932 D 0 -11.5957 15.5403 0.76039 1.0:0.0:0.0:0.0 . 386;416;416 E7ETN2;A8KAG7;O00167 .;.;EYA2_HUMAN G 416;386;386 ENSP00000333640:E416G;ENSP00000321590:E386G ENSP00000321590:E386G E + 2 0 EYA2 45241901 1.000000 0.71417 0.999000 0.59377 0.988000 0.76386 9.208000 0.95075 2.085000 0.62840 0.454000 0.30748 GAG EYA2-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080326.2 + ENST00000327619.5 Missense_Mutation SNP PCPG-TCGA-QR-A6GS-Normal-SM-5EQFE DPY19L2P2 0 broad.mit.edu 37 7 102850743 102850743 + RNA SNP C C T TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr7:102850743C>T ENST00000312132.4 - 0.0 3363 Q6ZN68 D19P2_HUMAN DPY19L2 pseudogene 2 integral component of membrane (GO:0016021) transferase activity, transferring glycosyl groups (GO:0016757) CTAAAACACGCGAAATATCAC 0.259 0 AL834175 7q22.1 2013-09-12 2013-09-12 ENSG00000170629 ENSG00000170629 349152.0 349152.0 21764.0 pseudogene pseudogene """dpy-19-like 2 pseudogene 2 (C. elegans)""" Standard NM_182634 NR_027768 Approved DKFZp434E092, FLJ36166 uc003vbh.4 Q6ZN68 OTTHUMG00000157200 ENST00000312132.4: 7.__UNKNOWN__:g.102850743C>T Q8N9V4|Q8ND62 __UNKNOWN__ DPY19L2P2-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000347877.1 - ENST00000312132.4 RNA SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ SUPT16H 11198 broad.mit.edu 37 14 21825383 21825383 + Missense_Mutation SNP G G A TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr14:21825383G>A ENST00000216297.2 - 22.0 2971 c.2633C>T c.(2632-2634)tCt>tTt p.S878F NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 878.0 DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27.0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) GGGGTCAAGAGAGGCTACAGG 0.433 0 187.0 141.0 156.0 14 21825383.0 2203.0 4300.0 6503.0 SO:0001583 missense AF152961 CCDS9569.1 14q11.1 2008-08-13 2001-11-28 ENSG00000092201 ENSG00000092201 11198.0 11198.0 11465.0 protein-coding gene gene with protein product """facilitates chromatin remodeling 140 kDa subunit""" 605012.0 """suppressor of Ty (S.cerevisiae) 16 homolog""" 9489704, 11239457 Standard NM_007192 Approved FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68 uc001wao.2 Q9Y5B9 OTTHUMG00000029685 ENST00000216297.2:c.2633C>T 14.__UNKNOWN__:g.21825383G>A ENSP00000216297:p.Ser878Phe Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0 __UNKNOWN__ CCDS9569.1 . . . . . . . . . . G 28.2 4.903200 0.92035 . . ENSG00000092201 ENST00000216297 . . . 5.62 5.62 0.85841 Translation elongation factor EFG/EF2, C-terminal (1);Domain of unknown function DUF1747, eukaryote (1); 0.000000 0.85682 D 0.000000 T 0.74756 0.3758 M 0.65975 2.015 0.80722 D 1 D 0.58970 0.984 D 0.65233 0.933 T 0.68349 -0.5432 9 0.11485 T 0.65 -13.1871 18.4299 0.90622 0.0:0.0:1.0:0.0 . 878 Q9Y5B9 SP16H_HUMAN F 878 . ENSP00000216297:S878F S - 2 0 SUPT16H 20895223 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 8.882000 0.92420 2.646000 0.89796 0.655000 0.94253 TCT SUPT16H-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000074025.2 - ENST00000216297.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ MAGEB1 4112 broad.mit.edu 37 X 30268674 30268674 + Missense_Mutation SNP A A T TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chrX:30268674A>T ENST00000378981.3 + 4.0 385 c.64A>T c.(64-66)Acc>Tcc p.T22S MAGEB1_ENST00000397550.1_Missense_Mutation_p.T22S|MAGEB1_ENST00000397548.2_Missense_Mutation_p.T22S NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 22.0 NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32.0 GCGAGAGGAGACCCAGGGTCT 0.592 0 42.0 33.0 36.0 X 30268674.0 2202.0 4299.0 6501.0 SO:0001583 missense CCDS14222.1 Xp21.3 2009-03-17 ENSG00000214107 ENSG00000214107 4112.0 4112.0 6808.0 protein-coding gene gene with protein product """DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1""" 300097.0 7761436, 9441743 Standard NM_002363 NM_002363 Approved MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1 uc004dce.3 P43366 OTTHUMG00000021322 ENST00000378981.3:c.64A>T X.__UNKNOWN__:g.30268674A>T ENSP00000368264:p.Thr22Ser B2RC79|O00601|O75862|Q6FHJ0|Q96CW8 __UNKNOWN__ CCDS14222.1 . . . . . . . . . . A 11.45 1.641936 0.29157 . . ENSG00000214107 ENST00000378981;ENST00000397550;ENST00000397548 T;T;T 0.04862 3.54;3.54;3.54 3.99 -2.69 0.06022 Melanoma associated antigen, MAGE, N-terminal (1); 1.616940 0.04049 N 0.304496 T 0.10294 0.0252 L 0.61387 1.9 0.09310 N 1 B 0.34103 0.437 P 0.44422 0.449 T 0.33675 -0.9859 10 0.29301 T 0.29 . 1.0322 0.01540 0.2921:0.1803:0.3488:0.1787 . 22 P43366 MAGB1_HUMAN S 22 ENSP00000368264:T22S;ENSP00000380683:T22S;ENSP00000380681:T22S ENSP00000368264:T22S T + 1 0 MAGEB1 30178595 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -0.316000 0.08071 -0.703000 0.05049 0.486000 0.48141 ACC MAGEB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056160.1 + ENST00000378981.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ ATP2A1 487 broad.mit.edu 37 16 28909395 28909395 + Nonsense_Mutation SNP C C A TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr16:28909395C>A ENST00000395503.4 + 13.0 1678 c.1494C>A c.(1492-1494)tgC>tgA p.C498* ATP2A1_ENST00000357084.3_Nonsense_Mutation_p.C498*|ATP2A1_ENST00000536376.1_Nonsense_Mutation_p.C373* NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 498.0 apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085) calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38.0 CTGTCTATTGCTCCCCAGCCA 0.542 0 92.0 94.0 93.0 16 28909395.0 2197.0 4300.0 6497.0 SO:0001587 stop_gained CCDS10643.1, CCDS42139.1, CCDS66997.1 16p12.1 2012-10-22 ENSG00000196296 ENSG00000196296 487.0 487.0 3.6.3.8 """ATPases / P-type""" 811.0 protein-coding gene gene with protein product """sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1""" 108730.0 ATP2A Standard NM_004320 NM_004320 Approved SERCA1 uc002dro.1 O14983 OTTHUMG00000131760 ENST00000395503.4:c.1494C>A 16.__UNKNOWN__:g.28909395C>A ENSP00000378879:p.Cys498* A8K5J9|B3KY17|O14984 __UNKNOWN__ CCDS42139.1 . . . . . . . . . . C 37 5.981141 0.97168 . . ENSG00000196296 ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376 . . . 5.35 -2.02 0.07388 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 10.3988 0.44218 0.0:0.5326:0.0:0.4674 . . . . X 498;498;535;373 . ENSP00000349595:C498X C + 3 2 ATP2A1 28816896 1.000000 0.71417 0.908000 0.35775 0.976000 0.68499 2.155000 0.42301 -0.340000 0.08388 -0.982000 0.02568 TGC ATP2A1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254687.2 + ENST00000395503.4 Nonsense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ ZNF407 55628 broad.mit.edu 37 18 72775248 72775248 + Silent SNP G G A TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr18:72775248G>A ENST00000299687.5 + 8.0 5571 c.5571G>A c.(5569-5571)gcG>gcA p.A1857A NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1857.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67.0 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GGAGGCCAGCGCCGCCCCCTG 0.682 0 46.0 61.0 56.0 18 72775248.0 2072.0 4210.0 6282.0 SO:0001819 synonymous_variant AB051490 CCDS45885.1, CCDS54191.1, CCDS58634.1 18q23 2013-01-08 ENSG00000215421 ENSG00000215421 55628.0 55628.0 """Zinc fingers, C2H2-type""" 19904.0 protein-coding gene gene with protein product 615894.0 11214970 Standard NM_017757 NM_017757 Approved FLJ20307, FLJ13839, KIAA1703 uc002llw.2 Q9C0G0 ENST00000299687.5:c.5571G>A 18.__UNKNOWN__:g.72775248G>A B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7 __UNKNOWN__ CCDS45885.1 ZNF407-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000444903.1 + ENST00000299687.5 Silent SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ MRPS12 54938 broad.mit.edu 37 19 39421234 39421234 + Missense_Mutation SNP G G A TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr19:39421234G>A ENST00000308018.4 + 0.0 47 CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|SARS2_ENST00000221431.6_Missense_Mutation_p.A48V|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V NM_033362.3 NP_203526.1 O15235 RT12_HUMAN mitochondrial ribosomal protein S12 translation (GO:0006412) mitochondrial ribosome (GO:0005761)|small ribosomal subunit (GO:0015935) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) endometrium(1)|large_intestine(1) 2.0 all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GCCCTCGCGCGCATACTCGTA 0.627 OREG0025455 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 97.0 84.0 88.0 19 39421234.0 2203.0 4300.0 6503.0 SO:0001623 5_prime_UTR_variant Y11681 CCDS12525.1 19q13.1-q13.2 2012-09-13 ENSG00000128626 ENSG00000128626 6183.0 6183.0 """Mitochondrial ribosomal proteins / small subunits""" 10380.0 protein-coding gene gene with protein product 603021.0 RPMS12 9545647, 9790755 Standard NM_021107 Approved RPS12, RPSM12 uc002oke.3 O15235 ENST00000308018.4:c.-424G>A 19.__UNKNOWN__:g.39421234G>A 885.0 Q53X98 __UNKNOWN__ CCDS12525.1 . . . . . . . . . . G 14.36 2.512002 0.44660 . . ENSG00000104835 ENST00000430193;ENST00000221431;ENST00000455102 T;T;T 0.55588 0.51;0.51;1.49 5.65 4.57 0.56435 . 0.122893 0.53938 D 0.000045 T 0.40979 0.1139 L 0.43923 1.385 . . . D;B;B 0.56746 0.977;0.206;0.257 B;B;B 0.43623 0.425;0.014;0.007 T 0.44952 -0.9294 9 0.16896 T 0.51 . 8.6175 0.33840 0.1027:0.0:0.8973:0.0 . 48;48;48 B4DJP6;B4DE10;Q9NP81 .;.;SYSM_HUMAN V 48 ENSP00000406754:A48V;ENSP00000221431:A48V;ENSP00000414954:A48V ENSP00000221431:A48V A - 2 0 FBXO17 44113074 1.000000 0.71417 1.000000 0.80357 0.672000 0.39443 3.764000 0.55264 2.941000 0.99782 0.655000 0.94253 GCG MRPS12-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463152.2 + ENST00000308018.4 5'UTR SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ PPP1R3B 79660 broad.mit.edu 37 8 8998550 8998550 + Silent SNP A A G TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr8:8998550A>G ENST00000310455.3 - 2.0 762 c.612T>C c.(610-612)tcT>tcC p.S204S PPP1R3B_ENST00000519699.1_Silent_p.S204S NM_001201329.1|NM_024607.3 NP_001188258.1|NP_078883.2 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory subunit 3B 204.0 CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}. glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981) glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164) protein phosphatase regulator activity (GO:0019888) endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 12.0 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) TTCTTTCATAAGACTGAATCT 0.483 0 186.0 156.0 166.0 8 8998550.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK024067 CCDS5973.1 8p23.1 2012-04-17 2011-10-04 ENSG00000173281 ENSG00000173281 79660.0 79660.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 14942.0 protein-coding gene gene with protein product """PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)""" 610541.0 """protein phosphatase 1, regulatory (inhibitor) subunit 3B""" 11948623, 17555403 Standard NM_024607 NM_024607 Approved GL, FLJ14005, PPP1R4 uc003wsn.4 Q86XI6 OTTHUMG00000129329 ENST00000310455.3:c.612T>C 8.__UNKNOWN__:g.8998550A>G B3KTV3|Q9H812 __UNKNOWN__ CCDS5973.1 PPP1R3B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251472.1 - ENST00000310455.3 Silent SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ XPNPEP2 7512 broad.mit.edu 37 X 128887218 128887218 + Silent SNP C C T TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chrX:128887218C>T ENST00000371106.3 + 11.0 1293 c.1101C>T c.(1099-1101)gcC>gcT p.A367A NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 367.0 anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237) endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37.0 TCCTCAAGGCCAGCCACGTAA 0.547 0 145.0 113.0 123.0 X 128887218.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant U90724 CCDS14613.1 Xq25 2008-02-05 ENSG00000122121 ENSG00000122121 7512.0 7512.0 3.4.11.9 12823.0 protein-coding gene gene with protein product 300145.0 9375790, 9628831 Standard NM_003399 NM_003399 Approved uc004eut.1 O43895 OTTHUMG00000022373 ENST00000371106.3:c.1101C>T X.__UNKNOWN__:g.128887218C>T A0AV16|O75994 __UNKNOWN__ CCDS14613.1 XPNPEP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058210.1 + ENST00000371106.3 Silent SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ INSRR 3645 broad.mit.edu 37 1 156815542 156815542 + Silent SNP G G A TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr1:156815542G>A ENST00000368195.3 - 10.0 2439 c.2043C>T c.(2041-2043)gcC>gcT p.A681A NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 681.0 Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}. actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) 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) 42.0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ACTCCATCTCGGCCTCAGGAT 0.637 0 43.0 38.0 40.0 1 156815542.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant J05046 CCDS1160.1 1q21-q23 2013-02-11 ENSG00000027644 ENSG00000027644 3645.0 3645.0 """Fibronectin type III domain containing""" 6093.0 protein-coding gene gene with protein product 147671.0 2768234, 2249481 Standard NM_014215 NM_014215 Approved IRR uc010pht.2 P14616 OTTHUMG00000041291 ENST00000368195.3:c.2043C>T 1.__UNKNOWN__:g.156815542G>A O60724|Q5VZS3 __UNKNOWN__ CCDS1160.1 INSRR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000098929.1 - ENST00000368195.3 Silent SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ LPHN3 23284 broad.mit.edu 37 4 62903516 62903516 + Missense_Mutation SNP T T C TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr4:62903516T>C ENST00000514591.1 + 23.0 3784 c.3455T>C c.(3454-3456)aTt>aCt p.I1152T LPHN3_ENST00000506720.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000504896.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000507164.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000508946.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000511324.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000545650.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000508693.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000506746.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000514157.1_Missense_Mutation_p.I1143T|LPHN3_ENST00000509896.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000512091.2_Missense_Mutation_p.I1152T|LPHN3_ENST00000507625.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000506700.1_Missense_Mutation_p.I1143T|LPHN3_ENST00000514996.1_Missense_Mutation_p.I1143T Q9HAR2 LPHN3_HUMAN latrophilin 3 1130.0 G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930) p.I1152N(1) 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) 125.0 GAGAGTTCCATTGGTTCAGGG 0.403 1 Substitution - Missense(1) lung(1) 141.0 143.0 142.0 4 62903516.0 1983.0 4174.0 6157.0 SO:0001583 missense AB018311 CCDS54768.1 4q13.1 2014-08-08 ENSG00000150471 23284.0 23284.0 """-"", ""GPCR / Class B : Orphans""" 20974.0 protein-coding gene gene with protein product 10994649 Standard NM_015236 Approved KIAA0768, LEC3 uc010ihh.3 Q9HAR2 ENST00000514591.1:c.3455T>C 4.__UNKNOWN__:g.62903516T>C ENSP00000422533:p.Ile1152Thr E9PE04|O94867|Q9NWK5 __UNKNOWN__ CCDS54768.1 . . . . . . . . . . T 11.48 1.651016 0.29336 . . ENSG00000150471 ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996 T;T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.56275 0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47 5.33 5.33 0.75918 GPCR, family 2, latrophilin, C-terminal (1); 0.269678 0.38217 N 0.001767 T 0.40015 0.1100 L 0.36672 1.1 0.38069 D 0.936311 B;B;B 0.33777 0.425;0.425;0.241 B;B;B 0.31812 0.136;0.136;0.08 T 0.39035 -0.9633 10 0.23891 T 0.37 . 10.7839 0.46395 0.1415:0.0:0.0:0.8585 . 1152;1130;1152 E9PE04;Q9HAR2;Q9HAR2-2 .;LPHN3_HUMAN;. T 1152;1152;1220;1211;1143;1152;1130;1152;1211;1220;1211;1143;1152;1152;1220;1211;1143 ENSP00000423388:I1152T;ENSP00000422533:I1152T;ENSP00000423787:I1220T;ENSP00000425033:I1211T;ENSP00000424120:I1143T;ENSP00000439831:I1152T;ENSP00000421476:I1211T;ENSP00000424030:I1220T;ENSP00000421372:I1211T;ENSP00000425201:I1143T;ENSP00000423434:I1152T;ENSP00000421627:I1152T;ENSP00000420931:I1220T;ENSP00000425884:I1211T;ENSP00000424258:I1143T ENSP00000280009:I1152T I + 2 0 LPHN3 62586111 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 3.737000 0.55060 2.144000 0.66660 0.528000 0.53228 ATT LPHN3-003 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000361765.1 + ENST00000514591.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ MRGPRX3 117195 broad.mit.edu 37 11 18159635 18159635 + Nonsense_Mutation SNP C C T TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr11:18159635C>T ENST00000396275.2 + 3.0 1247 c.886C>T c.(886-888)Cag>Tag p.Q296* NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 296.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) 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) 27.0 GAGGGCTCTGCAGGACACGCC 0.552 0 44.0 48.0 47.0 11 18159635.0 2200.0 4291.0 6491.0 SO:0001587 stop_gained CCDS7830.1 11p15.1 2013-10-10 ENSG00000179826 ENSG00000179826 117195.0 117195.0 """GPCR / Class A : Orphans""" 17980.0 protein-coding gene gene with protein product 607229.0 11551509 Standard NM_054031 NM_054031 Approved MRGX3 uc001mnu.3 Q96LB0 OTTHUMG00000166435 ENST00000396275.2:c.886C>T 11.__UNKNOWN__:g.18159635C>T ENSP00000379571:p.Gln296* B0M0L1|Q8TDE0|Q8TDE1 __UNKNOWN__ CCDS7830.1 . . . . . . . . . . C 24.5 4.538623 0.85917 . . ENSG00000179826 ENST00000396275 . . . 1.3 1.3 0.21679 . 0.637827 0.14512 N 0.315051 . . . . . . 0.39786 D 0.972377 . . . . . . . . . . 0.42905 T 0.14 . 5.9358 0.19165 0.0:1.0:0.0:0.0 . . . . X 296 . ENSP00000379571:Q296X Q + 1 0 MRGPRX3 18116211 0.324000 0.24652 0.788000 0.31933 0.076000 0.17211 0.194000 0.17135 1.011000 0.39340 0.195000 0.17529 CAG MRGPRX3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389767.1 + ENST00000396275.2 Nonsense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ KMT2C 58508 broad.mit.edu 37 7 152027726 152027726 + Missense_Mutation SNP C C T TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr7:152027726C>T ENST00000262189.6 - 3.0 567 c.349G>A c.(349-351)Gca>Aca p.A117T KMT2C_ENST00000355193.2_Missense_Mutation_p.A117T NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 117.0 histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) AGGGAGTTTGCCGATTCCTCA 0.428 0 208.0 195.0 199.0 7 152027726.0 2203.0 4300.0 6503.0 SO:0001583 missense AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508.0 58508.0 """Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type""" 13726.0 protein-coding gene gene with protein product 606833.0 """myeloid/lymphoid or mixed-lineage leukemia 3""" MLL3 10819331 Standard XM_005250026 Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.349G>A 7.__UNKNOWN__:g.152027726C>T ENSP00000262189:p.Ala117Thr Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 __UNKNOWN__ CCDS5931.1 . . . . . . . . . . C 14.75 2.628690 0.46944 . . ENSG00000055609 ENST00000262189;ENST00000355193;ENST00000452749 D;D 0.84070 -1.8;-1.8 5.54 2.52 0.30459 . 0.143667 0.31145 N 0.008163 T 0.72890 0.3517 L 0.32530 0.975 0.20873 N 0.999838 B 0.12630 0.006 B 0.12837 0.008 T 0.66404 -0.5932 10 0.59425 D 0.04 . 10.0261 0.42072 0.2451:0.6871:0.0:0.0678 . 117 Q8NEZ4 MLL3_HUMAN T 117;117;118 ENSP00000262189:A117T;ENSP00000347325:A117T ENSP00000262189:A117T A - 1 0 MLL3 151658659 0.002000 0.14202 0.015000 0.15790 0.994000 0.84299 -0.030000 0.12308 1.303000 0.44873 0.650000 0.86243 GCA KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000318887.3 - ENST00000262189.6 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ BZW2 28969 broad.mit.edu 37 7 16734587 16734587 + Silent SNP G G A TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr7:16734587G>A ENST00000433922.2 + 8.0 958 c.780G>A c.(778-780)aaG>aaA p.K260K BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000407633.1_Silent_p.K66K|BZW2_ENST00000405202.1_Silent_p.K184K|BZW2_ENST00000258761.3_Silent_p.K260K|BZW2_ENST00000432311.1_Intron NM_001159767.1 NP_001153239.1 Q9Y6E2 BZW2_HUMAN basic leucine zipper and W2 domains 2 260.0 W2. {ECO:0000255|PROSITE- ProRule:PRU00695}. cell differentiation (GO:0030154)|nervous system development (GO:0007399) membrane (GO:0016020) cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 15.0 Lung NSC(10;0.0367)|all_lung(11;0.0837) UCEC - Uterine corpus endometrioid carcinoma (126;0.199) AACTGCAGAAGGAGCTCCAGG 0.522 0 61.0 57.0 59.0 7 16734587.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF083246 CCDS5362.1 7p21.3 2008-07-18 ENSG00000136261 ENSG00000136261 28969.0 28969.0 18808.0 protein-coding gene gene with protein product 11042152 Standard NM_014038 NM_001159767 Approved HSPC028, MST017, MSTP017 uc003stj.2 Q9Y6E2 OTTHUMG00000130755 ENST00000433922.2:c.780G>A 7.__UNKNOWN__:g.16734587G>A A4D123|Q3B779|Q96JW5|Q9H3F7 __UNKNOWN__ CCDS5362.1 BZW2-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000253256.2 + ENST00000433922.2 Silent SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ KAT6A 7994 broad.mit.edu 37 8 41805396 41805396 + Missense_Mutation SNP T T A TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr8:41805396T>A ENST00000396930.3 - 12.0 2318 c.1775A>T c.(1774-1776)aAc>aTc p.N592I KAT6A_ENST00000485568.1_Missense_Mutation_p.N592I|KAT6A_ENST00000265713.2_Missense_Mutation_p.N592I|KAT6A_ENST00000406337.1_Missense_Mutation_p.N592I NM_001099412.1 NP_001092882.1 Q92794 KAT6A_HUMAN K(lysine) acetyltransferase 6A 592.0 Catalytic.|Interaction with PML.|Interaction with RUNX1-1.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity. aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351) Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605) acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) AAGACACAGGTTTTGACAATA 0.363 0 91.0 87.0 88.0 8 41805396.0 2203.0 4300.0 6503.0 SO:0001583 missense U47742 CCDS6124.1 8p11 2013-01-28 2011-07-21 2011-07-21 ENSG00000083168 ENSG00000083168 7994.0 7994.0 """Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type""" 13013.0 protein-coding gene gene with protein product """Monocytic leukemia zinc finger protein""" 601408.0 """runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3""" ZNF220, RUNXBP2, MYST3 8849440, 8782817 Standard NM_006766 NM_001099412 Approved MOZ, ZC2HC6A uc003xon.4 Q92794 OTTHUMG00000150453 ENST00000396930.3:c.1775A>T 8.__UNKNOWN__:g.41805396T>A ENSP00000380136:p.Asn592Ile Q76L81 __UNKNOWN__ CCDS6124.1 . . . . . . . . . . T 6.972 0.549415 0.13374 . . ENSG00000083168 ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568 T;T;T;D 0.87809 -0.28;-0.28;-0.28;-2.3 5.61 4.44 0.53790 . 0.141911 0.48286 D 0.000190 D 0.94699 0.8290 M 0.93420 3.415 0.58432 D 0.999999 D;D 0.76494 0.998;0.999 D;D 0.80764 0.987;0.994 D 0.95123 0.8248 10 0.87932 D 0 -27.1949 12.8312 0.57746 0.0:0.0:0.1365:0.8635 . 592;592 A5PLL3;Q92794 .;KAT6A_HUMAN I 592;592;592;172;592 ENSP00000265713:N592I;ENSP00000385888:N592I;ENSP00000380136:N592I;ENSP00000430606:N592I ENSP00000265713:N592I N - 2 0 KAT6A 41924553 1.000000 0.71417 1.000000 0.80357 0.017000 0.09413 8.040000 0.89188 0.937000 0.37394 -0.316000 0.08728 AAC KAT6A-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000318163.1 - ENST00000396930.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ FAM122C 159091 broad.mit.edu 37 X 133948879 133948879 + Translation_Start_Site SNP G G A TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chrX:133948879G>A ENST00000370785.3 + 2.0 594 c.189G>A c.(187-189)ctG>ctA p.L63L FAM122C_ENST00000370784.4_Splice_Site_p.L63L|FAM122C_ENST00000414371.2_Splice_Site_p.L99L|FAM122C_ENST00000445123.1_De_novo_Start_OutOfFrame NM_138819.3 NP_620174.1 Q6P4D5 F222C_HUMAN family with sequence similarity 122C 63.0 endometrium(2)|kidney(1)|lung(2) 5.0 Acute lymphoblastic leukemia(192;0.000127) GACGCTCTCTGGTAAGGAAAT 0.383 0 108.0 105.0 106.0 X 133948879.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant BC017868 CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1 Xq26.3 2008-02-05 2006-07-11 ENSG00000156500 ENSG00000156500 159091.0 159091.0 25202.0 protein-coding gene gene with protein product 12477932 Standard NM_138819 NM_138819 Approved RP3-473B4.1 uc004exz.2 Q6P4D5 OTTHUMG00000022716 ENST00000370785.3:c.189+1G>A X.__UNKNOWN__:g.133948879G>A F5H036|Q8WVK9 __UNKNOWN__ CCDS14644.1 FAM122C-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000058955.1 Silent + ENST00000370785.3 Splice_Site SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ PRRC2C 23215 broad.mit.edu 37 1 171501630 171501630 + Missense_Mutation SNP G G A TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr1:171501630G>A ENST00000338920.4 + 12.0 1634 c.1397G>A c.(1396-1398)cGt>cAt p.R466H PRRC2C_ENST00000392078.3_Missense_Mutation_p.R468H|PRRC2C_ENST00000426496.2_Missense_Mutation_p.R466H|PRRC2C_ENST00000367742.3_Missense_Mutation_p.R468H|PRRC2C_ENST00000476522.1_3'UTR NM_015172.3 NP_055987.2 Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 466.0 hematopoietic progenitor cell differentiation (GO:0002244) membrane (GO:0016020) poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022) CGTAAACGGCGTGAAGAGGAA 0.458 0 75.0 67.0 70.0 1 171501630.0 2203.0 4300.0 6503.0 SO:0001583 missense AL096857 CCDS1296.2 1q24.3 2012-07-18 2010-12-09 2010-12-09 ENSG00000117523 ENSG00000117523 23215.0 23215.0 24903.0 protein-coding gene gene with protein product """BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2""" BAT2D1, BAT2L2 10470851, 12443540 Standard NM_015172 NM_015172 Approved KIAA1096, XTP2 uc010pmg.2 Q9Y520 OTTHUMG00000034665 ENST00000338920.4:c.1397G>A 1.__UNKNOWN__:g.171501630G>A ENSP00000343629:p.Arg466His Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6 __UNKNOWN__ CCDS1296.2 . . . . . . . . . . G 18.37 3.609238 0.66558 . . ENSG00000117523 ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654 T;T;T;T 0.15834 2.39;2.39;2.39;2.39 6.02 6.02 0.97574 . 0.000000 0.44902 D 0.000406 T 0.39682 0.1087 M 0.74881 2.28 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.997 T 0.15694 -1.0428 10 0.87932 D 0 . 20.5373 0.99239 0.0:0.0:1.0:0.0 . 466;468 Q9Y520-4;E7EPN9 .;. H 468;466;466;468;466;222;224 ENSP00000375928:R468H;ENSP00000410219:R466H;ENSP00000356716:R468H;ENSP00000343629:R466H ENSP00000343629:R466H R + 2 0 PRRC2C 169768254 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.244000 0.95423 2.857000 0.98124 0.650000 0.86243 CGT PRRC2C-010 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000314826.4 + ENST00000338920.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ F13A1 2162 broad.mit.edu 37 6 6266931 6266931 + Missense_Mutation SNP C C T rs142954620 by1000genomes TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr6:6266931C>T ENST00000264870.3 - 4.0 696 c.431G>A c.(430-432)cGg>cAg p.R144Q NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 144.0 blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093) metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810) p.R144Q(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) 62.0 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GATGGACAGCCGCACAGACCT 0.512 C 1.0 0.0005 0.002 2184.0 1.0 , , 0.0003 0.0005 1.0 LOWCOV,EXOME 0.0003 SNP 1 Substitution - Missense(1) large_intestine(1) 131.0 120.0 124.0 6 6266931.0 2203.0 4300.0 6503.0 SO:0001583 missense M14539 CCDS4496.1 6p24.2-p23 2014-01-24 ENSG00000124491 ENSG00000124491 2162.0 2162.0 """Transglutaminases""" 3531.0 protein-coding gene gene with protein product 134570.0 F13A Standard NM_000129 NM_000129 Approved uc003mwv.3 P00488 OTTHUMG00000014186 ENST00000264870.3:c.431G>A 6.__UNKNOWN__:g.6266931C>T ENSP00000264870:p.Arg144Gln Q59HA7|Q8N6X2|Q96P24|Q9BX29 __UNKNOWN__ CCDS4496.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 C 19.23 3.787880 0.70337 . . ENSG00000124491 ENST00000264870;ENST00000441301 D 0.84660 -1.88 5.65 4.79 0.61399 Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1); 0.158566 0.48767 N 0.000174 T 0.80768 0.4686 L 0.47190 1.495 0.37891 D 0.930707 D;D 0.65815 0.992;0.995 P;P 0.54965 0.759;0.765 T 0.78922 -0.2013 10 0.22109 T 0.4 . 13.3447 0.60566 0.0:0.9249:0.0:0.0751 . 81;144 F5H080;P00488 .;F13A_HUMAN Q 144;81 ENSP00000264870:R144Q ENSP00000264870:R144Q R - 2 0 F13A1 6211930 0.412000 0.25392 0.996000 0.52242 0.610000 0.37248 0.950000 0.29122 1.389000 0.46526 0.655000 0.94253 CGG F13A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039756.3 - ENST00000264870.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ DSC2 1824 broad.mit.edu 37 18 28672206 28672206 + Missense_Mutation SNP A A C TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr18:28672206A>C ENST00000280904.6 - 3.0 655 c.212T>G c.(211-213)tTc>tGc p.F71C DSC2_ENST00000251081.6_Missense_Mutation_p.F71C NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 71.0 bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005) cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21.0 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CAAAATTTGGAAGTCAGGATC 0.338 0 68.0 67.0 67.0 18 28672206.0 2203.0 4300.0 6503.0 SO:0001583 missense X56807 CCDS11892.1, CCDS11893.1 18q12.1 2014-09-17 ENSG00000134755 ENSG00000134755 1824.0 1824.0 """Cadherins / Major cadherins""" 3036.0 protein-coding gene gene with protein product 125645.0 DSC3 7774948 Standard NM_004949 NM_024422 Approved CDHF2 uc002kwl.4 Q02487 OTTHUMG00000131981 ENST00000280904.6:c.212T>G 18.__UNKNOWN__:g.28672206A>C ENSP00000280904:p.Phe71Cys __UNKNOWN__ CCDS11892.1 . . . . . . . . . . A 18.84 3.708817 0.68615 . . ENSG00000134755 ENST00000251081;ENST00000280904;ENST00000399347 D;D 0.83673 -1.75;-1.75 5.1 5.1 0.69264 Cadherin prodomain-like (1);Cadherin-like (1); 0.000000 0.33875 N 0.004472 D 0.90903 0.7141 M 0.81802 2.56 0.58432 D 0.999999 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.92181 0.5751 10 0.87932 D 0 . 14.1597 0.65438 1.0:0.0:0.0:0.0 . 71;71 Q02487;Q02487-2 DSC2_HUMAN;. C 71 ENSP00000251081:F71C;ENSP00000280904:F71C ENSP00000251081:F71C F - 2 0 DSC2 26926204 1.000000 0.71417 1.000000 0.80357 0.940000 0.58332 5.902000 0.69869 2.062000 0.61559 0.374000 0.22700 TTC DSC2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000254943.1 - ENST00000280904.6 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ RP11-1407O15.2 0 broad.mit.edu 37 17 36352433 36352433 + Missense_Mutation SNP T T A TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr17:36352433T>A ENST00000312412.4 - 11.0 1353 c.1354A>T c.(1354-1356)Att>Ttt p.I452F TBC1D3_ENST00000537432.1_5'UTR|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.I297F kidney(1)|lung(3) 4.0 TTATCCCCAATGTAGTCATGC 0.358 0 SO:0001583 missense ENST00000312412.4:c.1354A>T 17.__UNKNOWN__:g.36352433T>A ENSP00000308540:p.Ile452Phe __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 13.82|13.82 2.352127|2.352127 0.41700|0.41700 .|. .|. ENSG00000174093|ENSG00000174093 ENST00000523089|ENST00000544906;ENST00000520237;ENST00000312412;ENST00000518004 .|T;T;T;T .|0.05786 .|3.39;3.39;3.39;3.39 2.62|2.62 2.62|2.62 0.31277|0.31277 .|. .|. .|. .|. .|. T|T 0.14442|0.14442 0.0349|0.0349 .|. .|. .|. 0.80722|0.80722 D|D 1|1 .|. .|. .|. .|. .|. .|. T|T 0.01413|0.01413 -1.1361|-1.1361 4|6 .|0.59425 .|D .|0.04 .|. 10.5928|10.5928 0.45318|0.45318 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. .|. .|. .|. L|F 407|297;452;452;448 .|ENSP00000444117:I297F;ENSP00000428261:I452F;ENSP00000308540:I452F;ENSP00000428330:I448F .|ENSP00000308540:I452F H|I -|- 2|1 0|0 RP11-1407O15.2|RP11-1407O15.2 33606232|33606232 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.810000|0.810000 0.45777|0.45777 7.653000|7.653000 0.83643|0.83643 1.196000|1.196000 0.43129|0.43129 0.163000|0.163000 0.16589|0.16589 CAT|ATT RP11-1407O15.2-202 KNOWN basic|appris_principal protein_coding protein_coding - ENST00000312412.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ PPT2 9374 broad.mit.edu 37 6 32130673 32130673 + Silent SNP C C T TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr6:32130673C>T ENST00000324816.6 + 9.0 1423 c.855C>T c.(853-855)gcC>gcT p.A285A PPT2_ENST00000375137.2_Silent_p.A285A|PPT2_ENST00000445576.2_Intron|PPT2_ENST00000375143.2_Silent_p.A285A|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000361568.2_Silent_p.A291A|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000395523.1_Silent_p.A285A|PPT2-EGFL8_ENST00000422437.1_Intron Q9UMR5 PPT2_HUMAN palmitoyl-protein thioesterase 2 285.0 cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734) extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764) palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790) NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 17.0 CCCACACAGCCTGGCACTCCA 0.547 0 140.0 151.0 147.0 6 32130673.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF020543 CCDS4740.1, CCDS4742.1 6p21.3 2012-07-02 ENSG00000221988 ENSG00000221988 9374.0 9374.0 3.1.2.22 9326.0 protein-coding gene gene with protein product 603298.0 9341199, 10051407 Standard NM_138717 NM_138717 Approved uc003nzw.3 Q9UMR5 OTTHUMG00000031257 ENST00000324816.6:c.855C>T 6.__UNKNOWN__:g.32130673C>T A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945 __UNKNOWN__ CCDS4742.1 PPT2-207 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076552.4 + ENST00000324816.6 Silent SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ SRP72 6731 broad.mit.edu 37 4 57350934 57350934 + Missense_Mutation SNP A A T TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr4:57350934A>T ENST00000342756.5 + 10.0 1711 c.990A>T c.(988-990)ttA>ttT p.L330F SRP72_ENST00000510663.1_Missense_Mutation_p.L269F NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa 330.0 cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786) 7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047) breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22.0 Glioma(25;0.08)|all_neural(26;0.101) CTGCCAGTTTACAGTCCCAAA 0.428 0 126.0 118.0 121.0 4 57350934.0 2203.0 4300.0 6503.0 SO:0001583 missense AF069765 CCDS3506.1, CCDS58898.1 4q11 2013-01-10 2002-08-29 ENSG00000174780 ENSG00000174780 6731.0 6731.0 """Tetratricopeptide (TTC) repeat domain containing""" 11303.0 protein-coding gene gene with protein product 602122.0 """signal recognition particle 72kD""" 9224693, 9857079 Standard NM_006947 Approved uc003hbv.3 O76094 OTTHUMG00000128843 ENST00000342756.5:c.990A>T 4.__UNKNOWN__:g.57350934A>T ENSP00000342181:p.Leu330Phe G5E9Z8|Q7Z3C0 __UNKNOWN__ CCDS3506.1 . . . . . . . . . . A 13.61 2.289483 0.40494 . . ENSG00000174780 ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314 T;T 0.80033 -1.33;1.11 5.62 0.552 0.17230 . 0.069697 0.56097 D 0.000022 T 0.80999 0.4732 M 0.72894 2.215 0.58432 D 0.999996 B;B;P 0.51240 0.038;0.049;0.943 B;B;P 0.54312 0.036;0.05;0.748 T 0.75227 -0.3392 10 0.41790 T 0.15 . 4.1332 0.10159 0.5031:0.0:0.3419:0.155 . 269;330;330 G5E9Z8;Q86X80;O76094 .;.;SRP72_HUMAN F 330;275;269;91 ENSP00000342181:L330F;ENSP00000424576:L269F ENSP00000342181:L330F L + 3 2 SRP72 57045691 0.996000 0.38824 1.000000 0.80357 0.992000 0.81027 0.313000 0.19415 0.088000 0.17205 -0.290000 0.09829 TTA SRP72-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250782.7 + ENST00000342756.5 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ TMC7 79905 broad.mit.edu 37 16 19056299 19056299 + Silent SNP C C T TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr16:19056299C>T ENST00000304381.5 + 10.0 1561 c.1431C>T c.(1429-1431)tgC>tgT p.C477C TMC7_ENST00000421369.3_Silent_p.C367C|TMC7_ENST00000569532.1_Silent_p.C477C NM_024847.3 NP_079123.3 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 477.0 ion transport (GO:0006811) integral component of membrane (GO:0016021) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28.0 GTGACCTTTGCGGCTACAACC 0.562 0 117.0 113.0 115.0 16 19056299.0 2197.0 4300.0 6497.0 SO:0001819 synonymous_variant AY263165 CCDS10573.1, CCDS53992.1, CCDS73837.1 16p13.11 2008-02-05 ENSG00000170537 ENSG00000170537 79905.0 79905.0 23000.0 protein-coding gene gene with protein product 12812529, 12906855 Standard NM_024847 XM_005255597 Approved FLJ21240 uc002dfq.3 Q7Z402 OTTHUMG00000131456 ENST00000304381.5:c.1431C>T 16.__UNKNOWN__:g.19056299C>T E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766 __UNKNOWN__ CCDS10573.1 TMC7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254276.3 + ENST00000304381.5 Silent SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ RABEPK 10244 broad.mit.edu 37 9 127975673 127975673 + Missense_Mutation SNP C C T TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr9:127975673C>T ENST00000373538.3 + 4.0 546 c.236C>T c.(235-237)aCc>aTc p.T79I RABEPK_ENST00000394125.4_Missense_Mutation_p.T79I|RABEPK_ENST00000373544.1_Missense_Mutation_p.T79I|RABEPK_ENST00000394124.4_Missense_Mutation_p.T79I|RABEPK_ENST00000259460.8_Intron NM_005833.3 NP_005824.2 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 79.0 receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904) endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886) NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15.0 GACTTAGATACCTGCAAGGGC 0.488 0 128.0 120.0 122.0 9 127975673.0 2203.0 4300.0 6503.0 SO:0001583 missense BC000503 CCDS6862.1, CCDS55341.1 9q33.1-q33.3 2010-04-19 ENSG00000136933 ENSG00000136933 10244.0 10244.0 16896.0 protein-coding gene gene with protein product 605962.0 9230071 Standard NM_005833 NM_005833 Approved RAB9P40, bA65N13.1 uc004bpi.3 Q7Z6M1 OTTHUMG00000020674 ENST00000373538.3:c.236C>T 9.__UNKNOWN__:g.127975673C>T ENSP00000362639:p.Thr79Ile A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1 __UNKNOWN__ CCDS6862.1 . . . . . . . . . . C 11.06 1.527027 0.27299 . . ENSG00000136933 ENST00000394125;ENST00000373544;ENST00000394124;ENST00000373538;ENST00000416065 T;T;T;T;T 0.20332 2.08;2.08;2.08;2.08;2.08 5.47 2.27 0.28462 Galactose oxidase, beta-propeller (1); 0.416266 0.25467 N 0.030478 T 0.20251 0.0487 L 0.36672 1.1 0.09310 N 1 P;P 0.39920 0.655;0.695 P;P 0.46629 0.522;0.473 T 0.05273 -1.0895 10 0.38643 T 0.18 -5.5451 8.0162 0.30383 0.3105:0.5461:0.1433:0.0 . 79;79 Q7Z6M1;Q5T1S4 RABEK_HUMAN;. I 79;79;79;79;162 ENSP00000377683:T79I;ENSP00000362645:T79I;ENSP00000377682:T79I;ENSP00000362639:T79I;ENSP00000402234:T162I ENSP00000362639:T79I T + 2 0 RABEPK 127015494 0.021000 0.18746 0.264000 0.24511 0.626000 0.37791 1.796000 0.38794 1.290000 0.44636 0.591000 0.81541 ACC RABEPK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054064.1 + ENST00000373538.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ FAM129A 116496 broad.mit.edu 37 1 184764710 184764710 + Missense_Mutation SNP T T G TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr1:184764710T>G ENST00000367511.3 - 14.0 2381 c.2188A>C c.(2188-2190)Atg>Ctg p.M730L FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 730.0 Glu-rich. negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45.0 TCTTCTTCCATCACTGGAGCA 0.542 0 109.0 112.0 111.0 1 184764710.0 2203.0 4300.0 6503.0 SO:0001583 missense AF288391 CCDS1364.1 1q25 2008-10-08 2006-11-23 2006-11-23 ENSG00000135842 ENSG00000135842 116496.0 116496.0 16784.0 protein-coding gene gene with protein product """cell growth inhibiting protein 39""" """chromosome 1 open reading frame 24""" C1orf24 15085203, 16444351 Standard NM_052966 Approved NIBAN, GIG39 uc001gra.4 Q9BZQ8 OTTHUMG00000035388 ENST00000367511.3:c.2188A>C 1.__UNKNOWN__:g.184764710T>G ENSP00000356481:p.Met730Leu Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9 __UNKNOWN__ CCDS1364.1 . . . . . . . . . . T 8.971 0.972886 0.18736 . . ENSG00000135842 ENST00000367511 T 0.08807 3.05 5.44 -1.3 0.09259 . 4.094370 0.00616 N 0.000432 T 0.04952 0.0133 N 0.08118 0 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.37126 -0.9719 10 0.27785 T 0.31 0.53 7.2189 0.25975 0.0:0.3893:0.1292:0.4814 . 730 Q9BZQ8 NIBAN_HUMAN L 730 ENSP00000356481:M730L ENSP00000356481:M730L M - 1 0 FAM129A 183031333 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 -0.071000 0.11505 -0.198000 0.10333 0.402000 0.26972 ATG FAM129A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000085786.1 - ENST00000367511.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ ZZEF1 23140 broad.mit.edu 37 17 3990757 3990757 + Missense_Mutation SNP G G C TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr17:3990757G>C ENST00000381638.2 - 14.0 2437 c.2313C>G c.(2311-2313)ttC>ttG p.F771L ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 771.0 calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270) 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) 84.0 AAAAATTCCAGAAGATCTGCA 0.308 0 62.0 67.0 65.0 17 3990757.0 2203.0 4300.0 6503.0 SO:0001583 missense BC035319 CCDS11043.1 17p13.3 2013-01-10 2004-11-03 ENSG00000074755 ENSG00000074755 23140.0 23140.0 """Zinc fingers, ZZ-type"", ""EF-hand domain containing""" 29027.0 protein-coding gene gene with protein product """zinc finger, ZZ-type with EF hand domain 1""" 9455477 Standard NM_015113 XM_005256560 Approved KIAA0399, ZZZ4, FLJ10821 uc002fxe.3 O43149 OTTHUMG00000090741 ENST00000381638.2:c.2313C>G 17.__UNKNOWN__:g.3990757G>C ENSP00000371051:p.Phe771Leu A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9 __UNKNOWN__ CCDS11043.1 . . . . . . . . . . G 14.75 2.629109 0.46944 . . ENSG00000074755 ENST00000381638 T 0.19532 2.14 6.06 6.06 0.98353 . 0.046255 0.85682 D 0.000000 T 0.12860 0.0312 N 0.12746 0.255 0.43583 D 0.995927 B;B 0.16802 0.015;0.019 B;B 0.16289 0.011;0.015 T 0.15464 -1.0436 10 0.27082 T 0.32 -20.6388 13.4323 0.61062 0.0719:0.0:0.9281:0.0 . 771;771 O43149-3;O43149 .;ZZEF1_HUMAN L 771 ENSP00000371051:F771L ENSP00000371051:F771L F - 3 2 ZZEF1 3937506 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 3.299000 0.51826 2.882000 0.98803 0.655000 0.94253 TTC ZZEF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207480.1 - ENST00000381638.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ PHTF2 57157 broad.mit.edu 37 7 77469597 77469597 + Missense_Mutation SNP A A G TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr7:77469597A>G ENST00000307305.8 + 2.0 227 c.25A>G c.(25-27)Ata>Gta p.I9V PHTF2_ENST00000450574.1_Missense_Mutation_p.I9V|PHTF2_ENST00000275575.7_Missense_Mutation_p.I9V|PHTF2_ENST00000422959.2_Missense_Mutation_p.I9V|PHTF2_ENST00000424760.1_Missense_Mutation_p.I9V|PHTF2_ENST00000248550.7_Missense_Mutation_p.I9V|PHTF2_ENST00000415251.2_Missense_Mutation_p.I9V|PHTF2_ENST00000416283.2_Missense_Mutation_p.I9V NM_001127358.1 NP_001120830.1 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 9.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634) DNA binding (GO:0003677) p.I9V(2) endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19.0 CACAGATGCTATAGTCTGGTA 0.318 2 Substitution - Missense(2) prostate(2) 137.0 130.0 132.0 7 77469597.0 1844.0 4093.0 5937.0 SO:0001583 missense AL136883 CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1 7q11.23-q21 2008-02-01 ENSG00000006576 ENSG00000006576 57157.0 57157.0 13411.0 protein-coding gene gene with protein product 10729229 Standard NM_020432 NM_020432 Approved DKFZp434D166 uc003ugq.4 Q8N3S3 OTTHUMG00000155557 ENST00000307305.8:c.25A>G 7.__UNKNOWN__:g.77469597A>G ENSP00000307699:p.Ile9Val A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099 __UNKNOWN__ CCDS47622.1 . . . . . . . . . . A 9.159 1.018293 0.19355 . . ENSG00000006576 ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000415251;ENST00000275575;ENST00000450574;ENST00000416283;ENST00000248550 . . . 5.69 4.55 0.56014 . 0.195634 0.44688 D 0.000422 T 0.38026 0.1025 N 0.08118 0 0.38251 D 0.941606 B;B;B;B;B;B;B 0.17465 0.0;0.0;0.022;0.002;0.0;0.0;0.019 B;B;B;B;B;B;B 0.20384 0.0;0.001;0.029;0.002;0.0;0.013;0.016 T 0.33033 -0.9884 9 0.87932 D 0 -1.0009 11.2795 0.49186 0.9281:0.0:0.0719:0.0 . 9;9;9;9;9;9;9 Q8N3S3-4;Q8N3S3-2;Q8N3S3;G5E9H7;Q8N3S3-3;B3KQZ2;E9PEE3 .;.;PHTF2_HUMAN;.;.;.;. V 9 . ENSP00000248550:I9V I + 1 0 PHTF2 77307533 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 5.550000 0.67268 0.997000 0.38969 0.533000 0.62120 ATA PHTF2-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000344297.1 + ENST00000307305.8 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ TTC31 64427 broad.mit.edu 37 2 74718668 74718668 + Missense_Mutation SNP C C A TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr2:74718668C>A ENST00000233623.5 + 8.0 752 c.745C>A c.(745-747)Ccc>Acc p.P249T TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_Missense_Mutation_p.P105T|TTC31_ENST00000410003.1_Missense_Mutation_p.P249T NM_022492.4 NP_071937.4 Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 249.0 breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9.0 TGGGGATTGGCCCCTCAGTGC 0.562 0 209.0 202.0 204.0 2 74718668.0 1908.0 4120.0 6028.0 SO:0001583 missense AK026819 CCDS42701.1 2p13.1 2013-01-11 ENSG00000115282 ENSG00000115282 64427.0 64427.0 """Tetratricopeptide (TTC) repeat domain containing""" 25759.0 protein-coding gene gene with protein product 12477932 Standard NM_022492 NM_022492 Approved FLJ12788 uc002slt.2 Q49AM3 OTTHUMG00000152887 ENST00000233623.5:c.745C>A 2.__UNKNOWN__:g.74718668C>A ENSP00000233623:p.Pro249Thr Q4KN40|Q53FD4|Q9H9F7 __UNKNOWN__ CCDS42701.1 . . . . . . . . . . C 13.55 2.272142 0.40194 . . ENSG00000115282 ENST00000545977;ENST00000410003;ENST00000441635;ENST00000442235;ENST00000233623 T;T;T 0.64260 1.07;0.01;-0.09 4.31 2.47 0.30058 . 0.427722 0.18017 N 0.154347 T 0.47340 0.1440 L 0.29908 0.895 0.22787 N 0.998739 P;P;P;P 0.37781 0.573;0.608;0.608;0.573 B;B;B;B 0.39217 0.294;0.104;0.154;0.217 T 0.40021 -0.9585 10 0.66056 D 0.02 . 5.931 0.19138 0.0:0.6995:0.1943:0.1062 . 105;219;249;178 B4DZV1;Q86XF2;Q49AM3;F5H175 .;.;TTC31_HUMAN;. T 178;249;249;105;249 ENSP00000387213:P249T;ENSP00000416823:P105T;ENSP00000233623:P249T ENSP00000233623:P249T P + 1 0 TTC31 74572176 0.314000 0.24563 0.375000 0.26029 0.329000 0.28539 1.210000 0.32370 0.554000 0.29061 0.561000 0.74099 CCC TTC31-001 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000328422.1 + ENST00000233623.5 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ RRBP1 6238 broad.mit.edu 37 20 17614233 17614233 + Missense_Mutation SNP G G A TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr20:17614233G>A ENST00000360807.4 - 8.0 1471 c.1183C>T c.(1183-1185)Cgg>Tgg p.R395W RRBP1_ENST00000377807.2_Missense_Mutation_p.R395W|RRBP1_ENST00000246043.4_Missense_Mutation_p.R828W|RRBP1_ENST00000377813.1_Missense_Mutation_p.R828W|RRBP1_ENST00000455029.2_Missense_Mutation_p.R169W NM_004587.2 NP_004578 Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 828.0 41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS]. osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412) endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840) poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28.0 AGCTCCTGCCGAAGCTTGGCC 0.592 0 71.0 58.0 63.0 20 17614233.0 2203.0 4300.0 6503.0 SO:0001583 missense AB037819 CCDS13128.1 20p12 2012-12-07 2012-12-07 ENSG00000125844 ENSG00000125844 6238.0 6238.0 10448.0 protein-coding gene gene with protein product 601418.0 """ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)""" 8812507 Standard NM_001042576 NM_001042576 Approved ES/130, hES uc002wpw.1 Q9P2E9 OTTHUMG00000031945 ENST00000360807.4:c.1183C>T 20.__UNKNOWN__:g.17614233G>A ENSP00000354045:p.Arg395Trp A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476 __UNKNOWN__ CCDS13128.1 . . . . . . . . . . G 20.1 3.937067 0.73557 . . ENSG00000125844 ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029 T;T;T;T;T 0.27256 1.68;1.68;1.68;1.68;1.68 5.45 4.45 0.53987 . 0.000000 0.33477 N 0.004877 T 0.50803 0.1637 M 0.75777 2.31 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.53528 -0.8426 10 0.72032 D 0.01 -45.066 14.8911 0.70609 0.0:0.0:0.7779:0.2221 . 395 Q9P2E9-3 . W 395;828;395;828;169 ENSP00000354045:R395W;ENSP00000367044:R828W;ENSP00000367038:R395W;ENSP00000246043:R828W;ENSP00000401206:R169W ENSP00000246043:R828W R - 1 2 RRBP1 17562233 1.000000 0.71417 1.000000 0.80357 0.714000 0.41099 4.637000 0.61346 2.714000 0.92807 0.561000 0.74099 CGG RRBP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078124.4 - ENST00000360807.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ RPS27A 6233 broad.mit.edu 37 2 55460001 55460001 + Missense_Mutation SNP C C T TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr2:55460001C>T ENST00000272317.6 + 2.0 365 c.41C>T c.(40-42)aCc>aTc p.T14I RPS27A_ENST00000402285.3_Missense_Mutation_p.T14I|RPS27A_ENST00000404735.1_Missense_Mutation_p.T14I NM_002954.5 NP_002945.1 P62979 RS27A_HUMAN ribosomal protein S27a 14.0 Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}. activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068) cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|small ribosomal subunit (GO:0015935) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) cervix(1)|ovary(1)|urinary_tract(1) 3.0 AAGACCATCACCCTCGAGGTA 0.537 0 26.0 28.0 27.0 2 55460001.0 2203.0 4300.0 6503.0 SO:0001583 missense AB007163 CCDS33202.1 2p16 2011-04-06 ENSG00000143947 ENSG00000143947 6233.0 6233.0 """S ribosomal proteins""" 10417.0 protein-coding gene gene with protein product """ubiquitin carboxyl extension protein 80""" 191343.0 9582194 Standard NM_001135592 Approved UBCEP80, Uba80, S27A uc010yow.2 P62979 OTTHUMG00000151919 ENST00000272317.6:c.41C>T 2.__UNKNOWN__:g.55460001C>T ENSP00000272317:p.Thr14Ile P02248|P02249|P02250|P14798|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BQ77|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7 __UNKNOWN__ CCDS33202.1 . . . . . . . . . . C 20.4 3.980442 0.74474 . . ENSG00000143947 ENST00000402285;ENST00000272317;ENST00000449323;ENST00000404735 T;T;T;T 0.75477 -0.94;-0.94;-0.94;-0.94 5.54 5.54 0.83059 Ubiquitin supergroup (1);Ubiquitin (2); 0.000000 0.85682 D 0.000000 T 0.73674 0.3617 M 0.62016 1.91 0.80722 D 1 B 0.02656 0.0 B 0.04013 0.001 T 0.70178 -0.4943 10 0.56958 D 0.05 . 17.6569 0.88180 0.0:1.0:0.0:0.0 . 14 P62979 RS27A_HUMAN I 14 ENSP00000383981:T14I;ENSP00000272317:T14I;ENSP00000408482:T14I;ENSP00000385659:T14I ENSP00000272317:T14I T + 2 0 RPS27A 55313505 1.000000 0.71417 0.975000 0.42487 0.844000 0.47949 7.504000 0.81646 2.603000 0.88011 0.655000 0.94253 ACC RPS27A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000324423.15 + ENST00000272317.6 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ UNC5A 90249 broad.mit.edu 37 5 176304658 176304658 + Missense_Mutation SNP G G T TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr5:176304658G>T ENST00000329542.4 + 10.0 1863 c.1589G>T c.(1588-1590)aGc>aTc p.S530I UNC5A_ENST00000261961.3_Missense_Mutation_p.S490I NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 530.0 ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}. anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34.0 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) AGCCCTGACAGCTGGAGCCTG 0.647 0 36.0 34.0 35.0 5 176304658.0 2203.0 4298.0 6501.0 SO:0001583 missense AB075856 CCDS34299.1 5q35.3 2013-01-11 2001-11-28 ENSG00000113763 ENSG00000113763 90249.0 90249.0 """Immunoglobulin superfamily / I-set domain containing""" 12567.0 protein-coding gene gene with protein product 607869.0 """unc5 (C.elegans homolog) a""" Standard XM_030300 XM_006714927 Approved KIAA1976, UNC5H1 uc003mey.3 Q6ZN44 OTTHUMG00000163225 ENST00000329542.4:c.1589G>T 5.__UNKNOWN__:g.176304658G>T ENSP00000332737:p.Ser530Ile B2RXE6|Q8TF26|Q96GP4 __UNKNOWN__ CCDS34299.1 . . . . . . . . . . G 14.08 2.428869 0.43122 . . ENSG00000113763 ENST00000329542;ENST00000261961 T;T 0.46451 0.87;0.87 5.22 3.16 0.36331 ZU5 (3); 0.153069 0.56097 D 0.000021 T 0.24851 0.0603 N 0.19112 0.55 0.38254 D 0.941688 P 0.34699 0.464 B 0.35073 0.195 T 0.15925 -1.0420 10 0.87932 D 0 -34.9761 4.5003 0.11860 0.335:0.1721:0.4929:0.0 . 530 Q6ZN44 UNC5A_HUMAN I 530;490 ENSP00000332737:S530I;ENSP00000261961:S490I ENSP00000261961:S490I S + 2 0 UNC5A 176237264 1.000000 0.71417 1.000000 0.80357 0.889000 0.51656 6.349000 0.73013 1.211000 0.43351 0.305000 0.20034 AGC UNC5A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000372166.1 + ENST00000329542.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ NEK4 6787 broad.mit.edu 37 3 52773447 52773447 + Missense_Mutation SNP G G A TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr3:52773447G>A ENST00000383721.4 - 13.0 2351 c.2159C>T c.(2158-2160)tCa>tTa p.S720L NEK4_ENST00000535191.1_Missense_Mutation_p.S677L|NEK4_ENST00000233027.5_Missense_Mutation_p.S766L P51957 NEK4_HUMAN NIMA-related kinase 4 766.0 mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468) nucleus (GO:0005634) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26.0 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) CTGATCACCTGAAGGTAGCTC 0.428 0 141.0 140.0 140.0 3 52773447.0 2203.0 4300.0 6503.0 SO:0001583 missense L20321 CCDS2863.1, CCDS54593.1 3p21.1 2012-11-15 2012-11-15 2002-05-10 ENSG00000114904 ENSG00000114904 6787.0 6787.0 2.7.11.1 11399.0 protein-coding gene gene with protein product """serine/threonine protein kinase-2""" 601959.0 """serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4""" STK2 8208544 Standard NM_003157 NM_001193533 Approved NRK2, pp12301 uc003dfq.4 P51957 OTTHUMG00000158836 ENST00000383721.4:c.2159C>T 3.__UNKNOWN__:g.52773447G>A ENSP00000373227:p.Ser720Leu A5YM70|B2R633|B7Z200|Q6P576 __UNKNOWN__ . . . . . . . . . . G 13.84 2.357906 0.41801 . . ENSG00000114904 ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689 T;T;T;T 0.73363 -0.66;-0.74;-0.62;-0.67 5.63 3.72 0.42706 . 0.898237 0.09563 N 0.785333 T 0.65995 0.2745 L 0.41710 1.295 0.28902 N 0.893198 B;B;B 0.17852 0.005;0.019;0.024 B;B;B 0.15870 0.006;0.014;0.013 T 0.57277 -0.7839 10 0.44086 T 0.13 . 8.8965 0.35467 0.1879:0.0:0.8121:0.0 . 677;720;766 B7Z200;P51957-2;P51957 .;.;NEK4_HUMAN L 766;677;720;677 ENSP00000233027:S766L;ENSP00000437703:S677L;ENSP00000373227:S720L;ENSP00000419666:S677L ENSP00000233027:S766L S - 2 0 NEK4 52748487 1.000000 0.71417 0.817000 0.32601 0.988000 0.76386 2.935000 0.48963 0.646000 0.30693 0.650000 0.86243 TCA NEK4-002 PUTATIVE basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000352387.1 - ENST00000383721.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ NSUN6 221078 broad.mit.edu 37 10 18840857 18840857 + Silent SNP C C T TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr10:18840857C>T ENST00000377304.4 - 9.0 1384 c.966G>A c.(964-966)ctG>ctA p.L322L NM_182543.2 NP_872349.1 Q8TEA1 NSUN6_HUMAN NOP2/Sun domain family, member 6 322.0 methyltransferase activity (GO:0008168)|RNA binding (GO:0003723) endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15.0 AGGGTGCATCCAGAAGAATTC 0.398 0 123.0 105.0 111.0 10 18840857.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC035778 CCDS7130.1 10p13 2014-06-23 2009-11-23 2004-08-26 ENSG00000241058 ENSG00000241058 221078.0 221078.0 """NOP2/Sun domain containing""" 23529.0 protein-coding gene gene with protein product """NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1""" NOPD1, ARL5B-AS1 Standard NM_182543 XM_005252394 Approved FLJ23743 uc010qcp.1 Q8TEA1 OTTHUMG00000017767 ENST00000377304.4:c.966G>A 10.__UNKNOWN__:g.18840857C>T B0YJ54 __UNKNOWN__ CCDS7130.1 NSUN6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047083.1 - ENST00000377304.4 Silent SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ TUB 7275 broad.mit.edu 37 11 8111173 8111173 + Missense_Mutation SNP G G A TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr11:8111173G>A ENST00000299506.2 + 2.0 204 c.55G>A c.(55-57)Ggc>Agc p.G19S TUB_ENST00000534099.1_Missense_Mutation_p.G25S|TUB_ENST00000305253.4_Missense_Mutation_p.G74S NM_177972.2 NP_813977.1 P50607 TUB_HUMAN tubby bipartite transcription factor 19.0 multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886) G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403) breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26.0 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) AGATGATGAGGGCAGAAACCT 0.602 0 94.0 94.0 94.0 11 8111173.0 2201.0 4296.0 6497.0 SO:0001583 missense U54644 CCDS7786.1, CCDS7787.1 11p15.5 2013-08-06 2013-08-06 ENSG00000166402 ENSG00000166402 7275.0 7275.0 12406.0 protein-coding gene gene with protein product 601197.0 """tubby (mouse) homolog"", ""tubby homolog (mouse)""" 8612280 Standard NM_003320 NM_003320 Approved rd5 uc001mfy.3 P50607 OTTHUMG00000165690 ENST00000299506.2:c.55G>A 11.__UNKNOWN__:g.8111173G>A ENSP00000299506:p.Gly19Ser D3DQU4|O00293|Q6B007 __UNKNOWN__ CCDS7787.1 . . . . . . . . . . G 6.061 0.379574 0.11466 . . ENSG00000166402 ENST00000534099;ENST00000305253;ENST00000299506 D;D;D 0.84800 -1.86;-1.9;-1.87 4.9 3.97 0.46021 Tubby, N-terminal (1); 0.229124 0.44688 D 0.000436 T 0.62792 0.2457 N 0.05124 -0.11 0.53005 D 0.99996 B;B;B 0.18166 0.015;0.015;0.026 B;B;B 0.24006 0.012;0.012;0.05 T 0.59198 -0.7499 10 0.02654 T 1 -13.8995 5.921 0.19082 0.2636:0.0:0.7364:0.0 . 25;19;74 E9PQR4;P50607;P50607-2 .;TUB_HUMAN;. S 25;74;19 ENSP00000434400:G25S;ENSP00000305426:G74S;ENSP00000299506:G19S ENSP00000299506:G19S G + 1 0 TUB 8067749 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 1.842000 0.39250 2.408000 0.81797 0.563000 0.77884 GGC TUB-003 PUTATIVE basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385823.1 + ENST00000299506.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ IPPK 64768 broad.mit.edu 37 9 95418813 95418813 + Silent SNP T T C rs145725375 by1000genomes TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr9:95418813T>C ENST00000287996.3 - 3.0 426 c.150A>G c.(148-150)caA>caG p.Q50Q NM_022755.5 NP_073592.1 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 50.0 inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1) 15.0 TCTGCAGGTGTTGAAATATCT 0.458 0 129.0 124.0 126.0 9 95418813.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK023225 CCDS6699.1 9q22.31 2010-12-02 2005-10-20 2005-10-20 ENSG00000127080 ENSG00000127080 64768.0 64768.0 14645.0 protein-coding gene gene with protein product """chromosome 9 open reading frame 12""" C9orf12 12084730 Standard NM_022755 NM_022755 Approved INSP5K2, FLJ13163, IP5K, IPK1 uc004asl.1 Q9H8X2 OTTHUMG00000020231 ENST00000287996.3:c.150A>G 9.__UNKNOWN__:g.95418813T>C Q5T9F7|Q9H7V8 __UNKNOWN__ CCDS6699.1 IPPK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053101.1 - ENST00000287996.3 Silent SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ ATRX 546 broad.mit.edu 37 X 76939263 76939263 + Frame_Shift_Del DEL T T - TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chrX:76939263delT ENST00000373344.5 - 9.0 1699 c.1485delA c.(1483-1485)aaafs p.K495fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K457fs NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 495.0 ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270) 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) 145.0 TTCTATCAGATTTCTTATGTT 0.373 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome Rec yes X Xq21.1 546.0 alpha thalassemia/mental retardation syndrome X-linked yes E 1 Unknown(1) bone(1) 184.0 188.0 186.0 X 76939263.0 2203.0 4296.0 6499.0 SO:0001589 frameshift_variant U72937 CCDS14434.1, CCDS14435.1 Xq21.1 2014-06-17 2010-06-24 ENSG00000085224 ENSG00000085224 546.0 546.0 886.0 protein-coding gene gene with protein product """RAD54 homolog (S. cerevisiae)""" 300032.0 """alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome""" RAD54, JMS 7874112, 1415255, 8503439, 8630485 Standard NM_000489 NM_000489 Approved XH2, XNP uc004ecp.4 P46100 OTTHUMG00000022686 ENST00000373344.5:c.1485delA X.__UNKNOWN__:g.76939263delT ENSP00000362441:p.Lys495fs D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3 __UNKNOWN__ CCDS14434.1 ATRX-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000058860.2 - ENST00000373344.5 Frame_Shift_Del DEL PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ PNO1 56902 broad.mit.edu 37 2 68400518 68400518 + Frame_Shift_Del DEL G G - TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr2:68400518delG ENST00000263657.2 + 6.0 751 c.660delG c.(658-660)atgfs p.M220fs RP11-474G23.1_ENST00000406334.3_Intron NM_020143.2 NP_064528.1 Q9NRX1 PNO1_HUMAN partner of NOB1 homolog (S. cerevisiae) 220.0 KH. nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) endometrium(1)|large_intestine(1)|lung(2) 4.0 ATATCAAGATGGCAAGAACTG 0.403 NSCLC(83;642 1410 13044 32832 40058) 0 150.0 151.0 150.0 2 68400518.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant AF164799 CCDS1885.1 2p14 2010-07-06 ENSG00000115946 ENSG00000115946 56902.0 56902.0 32790.0 protein-coding gene gene with protein product """RNA binding protein""" """KH-type RNA binding protein 1"", ""KH-type RNA-binding protein 1""" KHRBP1 15497447 Standard NM_020143 NM_020143 Approved RRP20 uc002seh.3 Q9NRX1 OTTHUMG00000129563 ENST00000263657.2:c.660delG 2.__UNKNOWN__:g.68400518delG ENSP00000263657:p.Met220fs A8K6Q0|Q53G13|Q8WVB8 __UNKNOWN__ CCDS1885.1 PNO1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251756.1 + ENST00000263657.2 Frame_Shift_Del DEL PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ TMEFF2 23671 broad.mit.edu 37 2 193059174 193059175 + In_Frame_Ins INS - - GCAGCA TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr2:193059174_193059175insGCAGCA ENST00000392314.1 - 1.0 467_468 c.76_77insTGCTGC c.(76-78)ccc>cTGCTGCcc p.25_26insLL TMEFF2_ENST00000409056.3_In_Frame_Ins_p.25_26insLL|TMEFF2_ENST00000272771.5_In_Frame_Ins_p.25_26insLL Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 25.0 extracellular region (GO:0005576)|integral component of membrane (GO:0016021) breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27.0 OV - Ovarian serous cystadenocarcinoma(117;0.0835) TAGCATGACGGGCAGCAGCAGC 0.599 Pancreas(50;1277 1381 28487 47072) 0 SO:0001652 inframe_insertion AB017269 CCDS2314.1 2q32.3 2010-05-04 ENSG00000144339 ENSG00000144339 23671.0 23671.0 11867.0 protein-coding gene gene with protein product """transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2""" 605734.0 10903839 Standard NM_016192 NM_016192 Approved TENB2, HPP1, TR, TPEF, CT120.2 uc002utc.3 Q9UIK5 OTTHUMG00000132723 ENST00000392314.1:c.71_76dupTGCTGC 2.__UNKNOWN__:g.193059175_193059180dupGCAGCA ENSP00000376128:p.Leu24_Leu25dup Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65 __UNKNOWN__ TMEFF2-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000256066.1 - ENST00000392314.1 In_Frame_Ins INS PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ NDUFAF4 29078 bcgsc.ca 37 6 97345726 97345726 + Missense_Mutation SNP G G A TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq d764f2ea-a12c-4c30-bcb7-1ff571bbc98d 0a8f67e2-b6ef-425c-8af1-81f6b9918c18 g.chr6:97345726G>A ENST00000316149.7 - 0.0 31 NDUFAF4_ENST00000489477.1_5'UTR NM_014165.3 NP_054884.1 Q9P032 NDUF4_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 mitochondrial respiratory chain complex I assembly (GO:0032981) mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739) large_intestine(5)|lung(3)|ovary(1)|skin(1) 10.0 TGGGAACACCGGCGCAGGACA 0.617 OREG0017572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 64.0 65.0 65.0 6 97345726.0 2203.0 4300.0 6503.0 SO:0001623 5_prime_UTR_variant AF161474 CCDS5037.1 6q16.3 2012-10-12 2012-05-08 2009-03-18 ENSG00000123545 ENSG00000123545 29078.0 29078.0 """Mitochondrial respiratory chain complex assembly factors""" 21034.0 protein-coding gene gene with protein product 611776 """chromosome 6 open reading frame 66"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4""" C6orf66 11042152, 18179882 Standard NM_014165 NM_014165 Approved HSPC125, bA22L21.1, My013, HRPAP20 uc003pow.3 Q9P032 OTTHUMG00000015246 ENST00000316149.7:c.-49C>T 6.__UNKNOWN__:g.97345726G>A 1327.0 B2R4J5 __UNKNOWN__ CCDS5037.1 NDUFAF4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041567.1 - ENST00000316149.7 5'UTR SNP PCPG-TCGA-QR-A6GT-Normal-SM-5EQFQ CPNE2 221184 broad.mit.edu 37 16 57155597 57155597 + Silent SNP G G A TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr16:57155597G>A ENST00000535318.2 + 10.0 1153 c.792G>A c.(790-792)gaG>gaA p.E264E CPNE2_ENST00000565874.1_Silent_p.E264E|CPNE2_ENST00000290776.8_Silent_p.E264E|CPNE2_ENST00000537605.1_Silent_p.E162E Q96FN4 CPNE2_HUMAN copine II 264.0 extracellular vesicular exosome (GO:0070062) central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5) 21.0 all_neural(199;0.224) TGGAGTTCGAGTGCATCAACC 0.527 0 143.0 133.0 136.0 16 57155597.0 2198.0 4300.0 6498.0 SO:0001819 synonymous_variant CCDS10774.1 16q13 2008-02-05 ENSG00000140848 ENSG00000140848 221184.0 221184.0 2315.0 protein-coding gene gene with protein product 604206.0 9430674 Standard NM_152727 NM_152727 Approved CPN2 uc002eks.2 Q96FN4 OTTHUMG00000133471 ENST00000535318.2:c.792G>A 16.__UNKNOWN__:g.57155597G>A Q68D19|Q719H8|Q86XP9 __UNKNOWN__ CCDS10774.1 CPNE2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000432986.2 + ENST00000535318.2 Silent SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI DTNB 1838 broad.mit.edu 37 2 25705699 25705699 + Missense_Mutation SNP G G A TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr2:25705699G>A ENST00000406818.3 - 10.0 1294 c.1045C>T c.(1045-1047)Cac>Tac p.H349Y DTNB_ENST00000407038.3_Missense_Mutation_p.H349Y|DTNB_ENST00000407661.3_Missense_Mutation_p.H349Y|DTNB_ENST00000288642.8_Missense_Mutation_p.H349Y|DTNB_ENST00000407186.1_Missense_Mutation_p.H349Y|DTNB_ENST00000496972.2_Missense_Mutation_p.H292Y|DTNB_ENST00000405222.1_Missense_Mutation_p.H349Y|DTNB_ENST00000404103.3_Missense_Mutation_p.H349Y|DTNB_ENST00000545439.1_Missense_Mutation_p.H145Y NM_001256303.1|NM_021907.4 NP_001243232.1|NP_068707.1 O60941 DTNB_HUMAN dystrobrevin, beta 349.0 cytoplasm (GO:0005737)|synapse (GO:0045202) calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 11.0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGGACATGTGGCTAACCATG 0.483 0 95.0 97.0 96.0 2 25705699.0 2026.0 4172.0 6198.0 SO:0001583 missense AF022728 CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1 2p23.2 2008-05-15 ENSG00000138101 ENSG00000138101 1838.0 1838.0 3058.0 protein-coding gene gene with protein product 602415.0 9419360 Standard NM_033147 NM_021907 Approved uc002rgh.4 O60941 OTTHUMG00000152129 ENST00000406818.3:c.1045C>T 2.__UNKNOWN__:g.25705699G>A ENSP00000384084:p.His349Tyr B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16 __UNKNOWN__ CCDS46237.1 . . . . . . . . . . G 12.34 1.907762 0.33721 . . ENSG00000138101 ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439;ENST00000535791 T;T;T;T;T;T;T;T;T 0.43294 2.28;2.28;2.26;2.29;2.24;2.25;2.25;2.26;0.95 5.13 5.13 0.70059 . 0.063756 0.64402 D 0.000004 T 0.50956 0.1646 M 0.63428 1.95 0.37198 D 0.904257 P;B;B;B;B;B;B;P;B;B;B;P 0.42993 0.697;0.004;0.006;0.004;0.004;0.004;0.003;0.697;0.014;0.004;0.006;0.797 B;B;B;B;B;B;B;B;B;B;B;P 0.48770 0.37;0.002;0.02;0.012;0.005;0.009;0.007;0.296;0.02;0.006;0.02;0.589 T 0.59306 -0.7479 10 0.51188 T 0.08 -21.6873 14.4411 0.67318 0.0:0.0:1.0:0.0 . 349;145;292;349;349;292;349;349;349;349;349;349 E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941 .;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN Y 292;349;349;349;349;349;349;349;145;202 ENSP00000444463:H292Y;ENSP00000384084:H349Y;ENSP00000385482:H349Y;ENSP00000385193:H349Y;ENSP00000384767:H349Y;ENSP00000384787:H349Y;ENSP00000385784:H349Y;ENSP00000288642:H349Y;ENSP00000444961:H145Y ENSP00000288642:H349Y H - 1 0 DTNB 25559203 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.189000 0.65098 2.544000 0.85801 0.650000 0.86243 CAC DTNB-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000325361.1 - ENST00000406818.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI PSG4 5672 broad.mit.edu 37 19 43709682 43709683 + Missense_Mutation DNP GC GC TT rs138930736 byFrequency TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr19:43709682_43709683GC>TT ENST00000405312.3 - 1.0 243_244 c.6_7GC>AA c.(4-9)ggGCcc>ggAAcc p.P3T PSG4_ENST00000244295.9_Missense_Mutation_p.P3T|PSG4_ENST00000433626.2_Missense_Mutation_p.P3T NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 3.0 female pregnancy (GO:0007565) extracellular vesicular exosome (GO:0070062) central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24.0 Prostate(69;0.00682) GCTGAGAGGGGCCCCATGGTCT 0.589 0 SO:0001583 missense CCDS33039.1, CCDS46093.1, CCDS62695.1 19q13.2 2013-01-29 ENSG00000243137 ENSG00000243137 5672.0 5672.0 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 9521.0 protein-coding gene gene with protein product """pregnancy-specific beta-1-glycoprotein 4""" 176393.0 2783133 Standard NM_213633 NM_002780 Approved uc002ovy.4 Q00888 OTTHUMG00000151544 ENST00000405312.3:c.6_7delinsTT 19.__UNKNOWN__:g.43709682_43709683delinsTT ENSP00000384770:p.Pro3Thr E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76 __UNKNOWN__ CCDS46093.1 PSG4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000323073.1 - ENST00000405312.3 Missense_Mutation DNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI NAALADL1 10004 broad.mit.edu 37 11 64822094 64822094 + Silent SNP G G T TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr11:64822094G>T ENST00000355721.3 - 4.0 596 c.597C>A c.(595-597)ccC>ccA p.P199P NAALADL1_ENST00000355369.2_Silent_p.P240P|NAALADL1_ENST00000358658.3_Silent_p.P240P|NAALADL1_ENST00000356632.3_Silent_p.P240P|NAALADL1_ENST00000339885.2_Silent_p.P240P|NAALADL1_ENST00000340252.4_Silent_p.P240P Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 1 240.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 29.0 CTCCTGAGGGGGGCAGGTACC 0.612 OREG0032001 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 0 56.0 56.0 56.0 11 64822094.0 2201.0 4297.0 6498.0 SO:0001819 synonymous_variant AF010141 CCDS31604.1 11q12 2011-08-16 ENSG00000168060 ENSG00000168060 10004.0 10004.0 23536.0 protein-coding gene gene with protein product """ileal peptidase I100""" 602640.0 10085079 Standard NM_005468 NM_005468 Approved uc001ocn.3 Q9UQQ1 OTTHUMG00000165595 ENST00000355721.3:c.597C>A 11.__UNKNOWN__:g.64822094G>T 1079.0 C9J8A1|C9J964|C9JL35|C9JSN0|O43176 __UNKNOWN__ CCDS31604.1 NAALADL1-021 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000385167.1 - ENST00000355721.3 Silent SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI NRXN3 9369 broad.mit.edu 37 14 79175617 79175617 + Missense_Mutation SNP G G A TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr14:79175617G>A ENST00000554719.1 + 4.0 651 c.160G>A c.(160-162)Gac>Aac p.D54N NRXN3_ENST00000335750.5_Missense_Mutation_p.D54N|RP11-232C2.2_ENST00000555680.1_RNA NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0.0 adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625) integral component of membrane (GO:0016021) cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104.0 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CCGGATTGCGGACACCAAGAT 0.463 0 94.0 93.0 94.0 14 79175617.0 2203.0 4300.0 6503.0 SO:0001583 missense AB018286 CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1 14q31 2010-01-19 ENSG00000021645 9369.0 9369.0 8010.0 protein-coding gene gene with protein product 600567.0 """chromosome 14 open reading frame 60""" C14orf60 11944992, 12379233 Standard NM_001105250 NM_004796 Approved KIAA0743 uc001xun.4 Q9HDB5 ENST00000554719.1:c.160G>A 14.__UNKNOWN__:g.79175617G>A ENSP00000451648:p.Asp54Asn A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8 __UNKNOWN__ CCDS9870.1 . . . . . . . . . . G 24.2 4.503512 0.85176 . . ENSG00000021645 ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750 T;T 0.67523 -0.27;-0.27 5.38 5.38 0.77491 Concanavalin A-like lectin/glucanase (1);Laminin G domain (1); 0.000000 0.85682 D 0.000000 T 0.68293 0.2985 . . . 0.80722 D 1 P;P 0.52692 0.955;0.861 B;P 0.46026 0.396;0.501 T 0.68228 -0.5464 8 . . . . 19.1251 0.93380 0.0:0.0:1.0:0.0 . 427;54 Q9Y4C0;Q9Y4C0-3 NRX3A_HUMAN;. N 427;425;54;54 ENSP00000451648:D54N;ENSP00000338349:D54N . D + 1 0 NRXN3 78245370 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 9.869000 0.99810 2.518000 0.84900 0.563000 0.77884 GAC NRXN3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000413787.1 + ENST00000554719.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI TMEM53 79639 broad.mit.edu 37 1 45120685 45120685 + Missense_Mutation SNP A A T TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr1:45120685A>T ENST00000372237.3 - 3.0 543 c.380T>A c.(379-381)cTg>cAg p.L127Q TMEM53_ENST00000372242.3_Missense_Mutation_p.L127Q|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.L97Q NM_024587.2 NP_078863.2 Q6P2H8 TMM53_HUMAN transmembrane protein 53 127.0 integral component of membrane (GO:0016021)|nucleus (GO:0005634) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1) 10.0 Acute lymphoblastic leukemia(166;0.155) ACGGGTCTGCAGGAGCTCCAG 0.612 OREG0013446 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 48.0 49.0 49.0 1 45120685.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS511.1, CCDS72773.1 1p34.1 2008-02-26 ENSG00000126106 ENSG00000126106 79639.0 79639.0 26186.0 protein-coding gene gene with protein product 12958361 Standard NM_024587 XR_425151 Approved FLJ22353, NET4 uc001cmc.3 Q6P2H8 OTTHUMG00000007833 ENST00000372237.3:c.380T>A 1.__UNKNOWN__:g.45120685A>T ENSP00000361311:p.Leu127Gln 929.0 B4DKG0|Q5JPH2|Q6IA07|Q9H6E2 __UNKNOWN__ CCDS511.1 . . . . . . . . . . A 22.7 4.320057 0.81469 . . ENSG00000126106 ENST00000372242;ENST00000372237;ENST00000372235;ENST00000420706 . . . 5.67 5.67 0.87782 . 0.138027 0.49916 D 0.000132 T 0.80497 0.4634 M 0.83953 2.67 0.58432 D 0.999998 D 0.76494 0.999 D 0.76575 0.988 T 0.82074 -0.0637 9 0.48119 T 0.1 . 15.9165 0.79524 1.0:0.0:0.0:0.0 . 127 Q6P2H8 TMM53_HUMAN Q 127;127;97;96 . ENSP00000361309:L97Q L - 2 0 TMEM53 44893272 1.000000 0.71417 0.998000 0.56505 0.958000 0.62258 7.286000 0.78671 2.169000 0.68431 0.460000 0.39030 CTG TMEM53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000021599.1 - ENST00000372237.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI PPAN-P2RY11 0 broad.mit.edu 37 19 10220329 10220329 + Missense_Mutation SNP G G A TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr19:10220329G>A ENST00000428358.1 + 6.0 708 c.536G>A c.(535-537)cGc>cAc p.R179H PPAN_ENST00000556468.1_Missense_Mutation_p.R179H|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.R179H|PPAN_ENST00000253107.7_Missense_Mutation_p.R179H|PPAN_ENST00000393793.1_Missense_Mutation_p.R126H NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 PPAN-P2RY11 readthrough 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) 31.0 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) ACCATCAAGCGCTGCCTCCTC 0.597 0 232.0 244.0 240.0 19 10220329.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ300588 CCDS42498.1, CCDS56082.1 19p13.2 2009-09-17 ENSG00000243207 ENSG00000243207 692312.0 692312.0 33526.0 other readthrough Standard NM_001040664 NM_001040664 Approved uc002mna.3 OTTHUMG00000150165 ENST00000428358.1:c.536G>A 19.__UNKNOWN__:g.10220329G>A ENSP00000411918:p.Arg179His __UNKNOWN__ CCDS56082.1 . . . . . . . . . . G 21.1 4.099098 0.76983 . . ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810 ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793;ENST00000446223 T;T;T;T;T;T 0.28666 1.6;1.6;1.6;1.6;1.6;1.6 4.94 4.94 0.65067 Brix domain (3); 7739.210000 0.00166 U 0.000001 T 0.73567 0.3603 H 0.94620 3.56 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 0.999;1.0;1.0 T 0.59284 -0.7483 10 0.87932 D 0 -33.0923 16.9125 0.86144 0.0:0.0:1.0:0.0 . 179;179;179 C9J3F9;C9JW41;Q9NQ55 .;.;SSF1_HUMAN H 179;179;179;179;179;126;117 ENSP00000411918:R179H;ENSP00000377385:R179H;ENSP00000253107:R179H;ENSP00000450710:R179H;ENSP00000377382:R126H;ENSP00000410485:R117H ENSP00000253107:R179H R + 2 0 PPAN;PPAN-P2RY11 10081329 1.000000 0.71417 1.000000 0.80357 0.367000 0.29736 8.656000 0.91102 2.287000 0.76781 0.561000 0.74099 CGC PPAN-P2RY11-002 NOVEL basic|readthrough_transcript|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000345524.1 + ENST00000428358.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI IL18RAP 8807 broad.mit.edu 37 2 103040356 103040356 + Missense_Mutation SNP G G T TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr2:103040356G>T ENST00000409369.1 + 3.0 282 IL18RAP_ENST00000264260.2_Missense_Mutation_p.Q52H O95256 I18RA_HUMAN interleukin 18 receptor accessory protein cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954) integral component of membrane (GO:0016021) receptor activity (GO:0004872) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37.0 CAGAGCCACAGAAATCACATT 0.408 0 64.0 63.0 64.0 2 103040356.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AF077346 CCDS2061.1 2q12.1 2013-01-11 ENSG00000115607 ENSG00000115607 8807.0 8807.0 """Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 5989.0 protein-coding gene gene with protein product 604509.0 9792649 Standard NM_003853 XM_005264034 Approved AcPL, CD218b uc002tbx.3 O95256 OTTHUMG00000130777 ENST00000409369.1:c.-31-335G>T 2.__UNKNOWN__:g.103040356G>T B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5 __UNKNOWN__ . . . . . . . . . . G 10.97 1.500836 0.26861 . . ENSG00000115607 ENST00000264260 T 0.02498 4.27 4.47 0.714 0.18180 . 1.533070 0.03666 N 0.243328 T 0.05135 0.0137 M 0.63428 1.95 0.09310 N 1 B 0.14438 0.01 B 0.14023 0.01 T 0.43893 -0.9363 10 0.48119 T 0.1 . 6.4255 0.21768 0.4063:0.0:0.5937:0.0 . 52 O95256 I18RA_HUMAN H 52 ENSP00000264260:Q52H ENSP00000264260:Q52H Q + 3 2 IL18RAP 102406788 0.000000 0.05858 0.000000 0.03702 0.330000 0.28571 0.198000 0.17217 0.116000 0.18110 0.563000 0.77884 CAG IL18RAP-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000329495.1 + ENST00000409369.1 Intron SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI FRK 2444 broad.mit.edu 37 6 116265543 116265543 + Missense_Mutation SNP G G A TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr6:116265543G>A ENST00000606080.1 - 6.0 1450 c.1004C>T c.(1003-1005)gCg>gTg p.A335V FRK_ENST00000538210.1_Missense_Mutation_p.A193V NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related Src family tyrosine kinase 335.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27.0 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) Regorafenib(DB08896) AACCTGTGCCGCCATGTCTAC 0.418 0 78.0 78.0 78.0 6 116265543.0 2203.0 4300.0 6503.0 SO:0001583 missense U00803 CCDS5103.1 6q21-q22.3 2014-06-25 2014-06-25 ENSG00000111816 ENSG00000111816 2444.0 2444.0 2.7.10.1 """SH2 domain containing""" 3955.0 protein-coding gene gene with protein product 606573.0 """PTK5 protein tyrosine kinase 5"", ""fyn-related kinase""" PTK5 7510261 Standard NM_002031 NM_002031 Approved RAK, GTK uc003pwi.1 P42685 OTTHUMG00000015424 ENST00000606080.1:c.1004C>T 6.__UNKNOWN__:g.116265543G>A ENSP00000476145:p.Ala335Val B4DY49|Q13128|Q9NTR5 __UNKNOWN__ CCDS5103.1 . . . . . . . . . . G 17.57 3.422237 0.62622 . . ENSG00000111816 ENST00000368626;ENST00000538210 T;T 0.37235 1.21;1.21 5.6 5.6 0.85130 Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); 0.000000 0.56097 D 0.000031 T 0.56615 0.1997 M 0.77103 2.36 0.80722 D 1 D 0.89917 1.0 D 0.67548 0.952 T 0.61312 -0.7088 10 0.87932 D 0 . 19.5995 0.95554 0.0:0.0:1.0:0.0 . 335 P42685 FRK_HUMAN V 335;193 ENSP00000357615:A335V;ENSP00000443075:A193V ENSP00000357615:A335V A - 2 0 FRK 116372236 1.000000 0.71417 0.947000 0.38551 0.055000 0.15305 6.530000 0.73816 2.610000 0.88304 0.591000 0.81541 GCG FRK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041924.2 - ENST00000606080.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI C9orf84 158401 broad.mit.edu 37 9 114484733 114484733 + Missense_Mutation SNP A A G TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr9:114484733A>G ENST00000394777.4 - 11.0 2022 c.1778T>C c.(1777-1779)cTc>cCc p.L593P C9orf84_ENST00000374287.3_Missense_Mutation_p.L632P|C9orf84_ENST00000318737.4_Missense_Mutation_p.L632P|C9orf84_ENST00000394779.3_Missense_Mutation_p.L593P Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 632.0 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) 35.0 TTCCTTTAAGAGAAACCTTGT 0.348 0 97.0 97.0 97.0 9 114484733.0 2203.0 4300.0 6503.0 SO:0001583 missense AL833535 CCDS6781.3, CCDS43863.1 9q32 2012-03-16 ENSG00000165181 ENSG00000165181 158401.0 158401.0 26535.0 protein-coding gene gene with protein product Standard NM_173521 XM_005251738 Approved FLJ32779 uc004bfr.3 Q5VXU9 OTTHUMG00000020495 ENST00000394777.4:c.1778T>C 9.__UNKNOWN__:g.114484733A>G ENSP00000378257:p.Leu593Pro A2A2V3|Q2M1H8|Q96M73 __UNKNOWN__ . . . . . . . . . . A 22.3 4.276988 0.80580 . . ENSG00000165181 ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737 T;T;T;T 0.08634 3.07;3.2;3.09;3.09 5.8 5.8 0.92144 . 0.420814 0.20241 N 0.096285 T 0.16385 0.0394 N 0.24115 0.695 0.58432 D 0.999991 D;D;D 0.63880 0.993;0.993;0.993 P;P;P 0.61592 0.891;0.891;0.891 T 0.02031 -1.1226 10 0.87932 D 0 -0.659 16.1484 0.81586 1.0:0.0:0.0:0.0 . 593;632;593 A6PVK7;Q5VXU9;A2A2V3 .;CI084_HUMAN;. P 593;593;246;632;632 ENSP00000378259:L593P;ENSP00000378257:L593P;ENSP00000363405:L632P;ENSP00000322108:L632P ENSP00000322108:L632P L - 2 0 C9orf84 113524554 1.000000 0.71417 0.999000 0.59377 0.993000 0.82548 5.837000 0.69381 2.226000 0.72624 0.459000 0.35465 CTC C9orf84-004 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000316570.1 - ENST00000394777.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI DNAJC5G 285126 broad.mit.edu 37 2 27500634 27500634 + Missense_Mutation SNP G G T TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr2:27500634G>T ENST00000404433.1 + 3.0 218 DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.L42F|DNAJC5G_ENST00000296097.3_Missense_Mutation_p.L42F Q8N7S2 DNJ5G_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 gamma membrane (GO:0016020) cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 10.0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATTCCGCATTGCTTCCCCACC 0.488 0 102.0 99.0 100.0 2 27500634.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AF368277 CCDS1744.1 2p23 2011-09-02 ENSG00000163793 ENSG00000163793 285126.0 285126.0 """Heat shock proteins / DNAJ (HSP40)""" 24844.0 protein-coding gene gene with protein product 613946.0 Standard NM_173650 NM_173650 Approved FLJ40417, CSP-gamma uc002rjl.1 Q8N7S2 OTTHUMG00000097079 ENST00000404433.1:c.114-36G>T 2.__UNKNOWN__:g.27500634G>T B4DY29|Q53SY5|Q8IYQ4|Q96RJ8 __UNKNOWN__ . . . . . . . . . . G 5.724 0.318010 0.10845 . . ENSG00000163793 ENST00000296097;ENST00000402462 T;T 0.40476 1.03;1.03 3.84 -0.14 0.13456 Heat shock protein DnaJ, N-terminal (3); 1.917340 0.03216 N 0.176883 T 0.23649 0.0572 N 0.08118 0 0.33141 D 0.544361 B 0.02656 0.0 B 0.04013 0.001 T 0.28902 -1.0029 10 0.87932 D 0 . 3.65 0.08199 0.0:0.4409:0.2081:0.351 . 42 Q8N7S2 DNJ5G_HUMAN F 42 ENSP00000296097:L42F;ENSP00000384305:L42F ENSP00000296097:L42F L + 3 2 DNAJC5G 27354138 0.000000 0.05858 0.016000 0.15963 0.000000 0.00434 -0.591000 0.05753 -0.117000 0.11872 -1.121000 0.02013 TTG DNAJC5G-004 NOVEL not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000325057.1 + ENST00000404433.1 Intron SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI MEF2A 0 broad.mit.edu 37 15 100211551 100211551 + Missense_Mutation SNP T T A rs1135555 TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr15:100211551T>A ENST00000557785.1 + 5.0 631 c.282T>A c.(280-282)aaT>aaA p.N94K MEF2A_ENST00000449277.2_Missense_Mutation_p.N26K|MEF2A_ENST00000338042.6_Missense_Mutation_p.N94K|MEF2A_ENST00000557942.1_Missense_Mutation_p.N94K|MEF2A_ENST00000558812.1_Missense_Mutation_p.N26K|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000453228.2_Missense_Mutation_p.N94K NM_001171894.1 NP_001165365.1 Q02078 MEF2A_HUMAN myocyte enhancer factor 2A 94.0 apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005) cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332) endometrium(2)|large_intestine(2)|lung(7)|ovary(1) 12.0 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00085) AAGGCCTTAATGGTTGTGAGA 0.353 0 166.0 160.0 162.0 15 100211551.0 1568.0 3582.0 5150.0 SO:0001583 missense CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1 15q26 2008-02-05 2007-04-24 ENSG00000068305 4205.0 """Myocyte enhancer factors""" 6993.0 protein-coding gene gene with protein product 600660.0 1516833 Standard NM_005587 Approved RSRFC4, RSRFC9 uc002bvf.3 Q02078 ENST00000557785.1:c.282T>A 15.__UNKNOWN__:g.100211551T>A ENSP00000453441:p.Asn94Lys B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14 __UNKNOWN__ CCDS53978.1 . . . . . . . . . . T 14.28 2.487703 0.44249 . . ENSG00000068305 ENST00000453228;ENST00000338042;ENST00000449277 T;T;T 0.59772 0.24;0.24;1.25 5.54 5.54 0.83059 . . . . . T 0.46521 0.1397 N 0.22421 0.69 0.31911 N 0.614689 B;B;B;B 0.28584 0.016;0.216;0.015;0.015 B;B;B;B 0.30029 0.062;0.11;0.041;0.041 T 0.53078 -0.8489 9 0.30078 T 0.28 . 15.9546 0.79876 0.0:0.0:0.0:1.0 . 26;15;94;94 B4DFQ7;Q7Z6C9;Q02078-6;Q02078-2 .;.;.;. K 94;94;26 ENSP00000404110:N94K;ENSP00000337202:N94K;ENSP00000399460:N26K ENSP00000337202:N94K N + 3 2 MEF2A 98029074 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 4.768000 0.62293 2.229000 0.72834 0.533000 0.62120 AAT MEF2A-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000415985.1 + ENST00000557785.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI CDK19 23097 broad.mit.edu 37 6 110942543 110942543 + Nonsense_Mutation SNP G G A TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr6:110942543G>A ENST00000368911.3 - 12.0 1320 c.1141C>T c.(1141-1143)Cag>Tag p.Q381* CDK19_ENST00000323817.3_Nonsense_Mutation_p.Q321*|CDK19_ENST00000413605.2_Nonsense_Mutation_p.Q257* NM_015076.3 NP_055891.1 Q9BWU1 CDK19_HUMAN cyclin-dependent kinase 19 381.0 Gln-rich. ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22.0 GCTGTGGGCTGCTGATGCTGG 0.542 0 98.0 112.0 107.0 6 110942543.0 2202.0 4300.0 6502.0 SO:0001587 stop_gained AL122055 CCDS5085.1, CCDS75503.1 6q21 2011-10-25 2009-12-16 2009-12-16 ENSG00000155111 ENSG00000155111 23097.0 23097.0 """Cyclin-dependent kinases""" 19338.0 protein-coding gene gene with protein product 614720.0 """cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)""" CDK11, CDC2L6 10470851, 19884882 Standard NM_015076 XM_005266871 Approved KIAA1028, bA346C16.3 uc003puh.1 Q9BWU1 OTTHUMG00000015365 ENST00000368911.3:c.1141C>T 6.__UNKNOWN__:g.110942543G>A ENSP00000357907:p.Gln381* Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2 __UNKNOWN__ CCDS5085.1 . . . . . . . . . . G 36 5.955256 0.97145 . . ENSG00000155111 ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605 . . . 5.88 5.88 0.94601 . 0.374831 0.28784 N 0.014144 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.29301 T 0.29 -11.343 19.8243 0.96610 0.0:0.0:1.0:0.0 . . . . X 381;321;320;257 . ENSP00000317665:Q321X Q - 1 0 CDK19 111049236 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 9.016000 0.93645 2.782000 0.95742 0.561000 0.74099 CAG CDK19-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041804.1 - ENST00000368911.3 Nonsense_Mutation SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI ZSWIM4 65249 broad.mit.edu 37 19 13910696 13910696 + Missense_Mutation SNP C C G TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr19:13910696C>G ENST00000254323.2 + 2.0 505 c.316C>G c.(316-318)Ctg>Gtg p.L106V NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 106.0 zinc ion binding (GO:0008270) 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) 27.0 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CGGGCTGCACCTGCTCCAGAG 0.642 0 43.0 41.0 42.0 19 13910696.0 2203.0 4299.0 6502.0 SO:0001583 missense AK022283 CCDS32924.1 19p13.13 2012-02-23 ENSG00000132003 ENSG00000132003 65249.0 65249.0 """Zinc fingers, SWIM-type""" 25704.0 protein-coding gene gene with protein product Standard XM_031342 NM_023072 Approved FLJ12221 uc002mxh.1 Q9H7M6 ENST00000254323.2:c.316C>G 19.__UNKNOWN__:g.13910696C>G ENSP00000254323:p.Leu106Val __UNKNOWN__ CCDS32924.1 . . . . . . . . . . C 21.2 4.119469 0.77323 . . ENSG00000132003 ENST00000254323 T 0.55052 0.54 4.31 4.31 0.51392 . 0.731345 0.11015 N 0.608983 T 0.70037 0.3178 M 0.89715 3.055 0.80722 D 1 D 0.64830 0.994 P 0.54889 0.763 T 0.73119 -0.4083 10 0.87932 D 0 -25.0301 8.2093 0.31473 0.0:0.8891:0.0:0.1109 . 106 Q9H7M6 ZSWM4_HUMAN V 106 ENSP00000254323:L106V ENSP00000254323:L106V L + 1 2 ZSWIM4 13771696 0.989000 0.36119 1.000000 0.80357 0.927000 0.56198 1.468000 0.35332 1.946000 0.56461 0.484000 0.47621 CTG ZSWIM4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457457.1 + ENST00000254323.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI GOLGA8I 0 broad.mit.edu 37 15 23261044 23261044 + Missense_Mutation SNP A A C TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr15:23261044A>C ENST00000450802.3 + 10.0 817 c.719A>C c.(718-720)gAa>gCa p.E240A NM_001282468.1|NM_001282472.1|NM_001282484.1|NM_001282490.1|NM_001282493.1|NM_001282494.1 NP_001269397.1|NP_001269401.1|NP_001269413.1|NP_001269419.1|NP_001269422.1|NP_001269423.1 A6NC78 GOG8I_HUMAN golgin A8 family, member I 240.0 Golgi apparatus (GO:0005794)|membrane (GO:0016020) GAAAGACATGAATATGCTGAA 0.507 0 SO:0001583 missense AK093104 15q11.2 2013-01-17 2012-10-05 2012-10-05 ENSG00000153666 ENSG00000277561 283796.0 283796.0 26660.0 other unknown """FLJ35785""" """golgi autoantigen, golgin subfamily a, 9 pseudogene"", ""golgin A9, pseudogene"", ""golgin A8 family, member I, pseudogene""" GOLGA9P, GOLGA8IP Standard NR_024074 NR_024074 Approved FLJ35785 uc001yvh.1 A6NC78 OTTHUMG00000129149 ENST00000450802.3:c.719A>C 15.__UNKNOWN__:g.23261044A>C ENSP00000399637:p.Glu240Ala __UNKNOWN__ . . . . . . . . . . . 7.711 0.695236 0.15039 . . ENSG00000153666 ENST00000450802 T 0.22336 1.96 0.83 0.83 0.18854 . . . . . T 0.29321 0.0730 . . . . . . P 0.50369 0.934 P 0.56042 0.79 T 0.33701 -0.9858 7 0.54805 T 0.06 . 4.0402 0.09748 1.0:0.0:0.0:0.0 . 159 Q8NA68 . A 240 ENSP00000399637:E240A ENSP00000399637:E240A E + 2 0 GOLGA8IP 20812485 0.001000 0.12720 0.003000 0.11579 0.162000 0.22319 0.288000 0.18939 0.646000 0.30693 0.055000 0.15244 GAA GOLGA8I-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding protein_coding OTTHUMT00000251213.2 + ENST00000450802.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI LAMA3 3909 broad.mit.edu 37 18 21329485 21329485 + Missense_Mutation SNP G G A rs150204820 by1000genomes TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr18:21329485G>A ENST00000313654.9 + 4.0 900 c.659G>A c.(658-660)cGt>cAt p.R220H LAMA3_ENST00000399516.3_Missense_Mutation_p.R220H NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 220.0 Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}. cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610) structural molecule activity (GO:0005198) p.R220H(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) 128.0 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) GAATATTCCCGTATTGTACCT 0.393 G 1.0 0.0005 2184.0 0.0017 0.9986 , , 0.0003 0.0011 0.639 LOWCOV 0.0009 SNP 1 Substitution - Missense(1) central_nervous_system(1) 82.0 85.0 84.0 18 21329485.0 1858.0 4095.0 5953.0 SO:0001583 missense L34155 CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1 18q11.2 2013-03-01 2002-08-29 ENSG00000053747 ENSG00000053747 3909.0 3909.0 """Laminins""" 6483.0 protein-coding gene gene with protein product 600805.0 """laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)""" LAMNA 8077230 Standard NM_000227, NM_198129 NM_000227 Approved nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin uc002kuq.3 Q16787 OTTHUMG00000131874 ENST00000313654.9:c.659G>A 18.__UNKNOWN__:g.21329485G>A ENSP00000324532:p.Arg220His B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0 __UNKNOWN__ CCDS42419.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 G 36 5.685288 0.96784 . . ENSG00000053747 ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801 T;T 0.75821 -0.97;-0.97 5.86 5.86 0.93980 Laminin, N-terminal (3); . . . . D 0.87811 0.6271 M 0.81497 2.545 0.80722 D 1 D;D;D 0.89917 1.0;0.998;0.99 D;D;P 0.91635 0.999;0.927;0.901 D 0.88118 0.2830 9 0.72032 D 0.01 . 20.2019 0.98263 0.0:0.0:1.0:0.0 . 220;220;220 F5H8G3;Q6VU67;Q16787 .;.;LAMA3_HUMAN H 220 ENSP00000324532:R220H;ENSP00000382432:R220H ENSP00000324532:R220H R + 2 0 LAMA3 19583483 0.995000 0.38212 0.937000 0.37676 0.989000 0.77384 7.062000 0.76706 2.776000 0.95493 0.655000 0.94253 CGT LAMA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254824.3 + ENST00000313654.9 Missense_Mutation SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI TBX2 6909 broad.mit.edu 37 17 59477559 59477559 + Missense_Mutation SNP G G C TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr17:59477559G>C ENST00000240328.3 + 1.0 303 c.22G>C c.(22-24)Gcc>Ccc p.A8P RP11-332H18.4_ENST00000592009.1_RNA|RP11-332H18.5_ENST00000585765.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 8.0 aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(1)|lung(7)|ovary(1) 9.0 GGCGCTGGCGGCCAGCGCCAT 0.796 GBM(3;187 253 11467 14965 23079) 0 7.0 7.0 7.0 17 59477559.0 1432.0 3126.0 4558.0 SO:0001583 missense AB209378 CCDS11627.2 17q23.2 2012-01-23 ENSG00000121068 ENSG00000121068 6909.0 6909.0 """T-boxes""" 11597.0 protein-coding gene gene with protein product 600747.0 8530034 Standard NM_005994 NM_005994 Approved uc010wox.2 Q13207 OTTHUMG00000156986 ENST00000240328.3:c.22G>C 17.__UNKNOWN__:g.59477559G>C ENSP00000240328:p.Ala8Pro Q16424|Q7Z647 __UNKNOWN__ CCDS11627.2 . . . . . . . . . . G 16.17 3.046913 0.55110 . . ENSG00000121068 ENST00000240328 D 0.86769 -2.17 3.2 3.2 0.36748 . . . . . T 0.79851 0.4517 L 0.29908 0.895 0.42866 D 0.994125 P 0.36733 0.567 B 0.34346 0.18 T 0.82323 -0.0514 9 0.66056 D 0.02 . 13.5665 0.61822 0.0:0.0:1.0:0.0 . 8 Q13207 TBX2_HUMAN P 8 ENSP00000240328:A8P ENSP00000240328:A8P A + 1 0 TBX2 56832341 1.000000 0.71417 1.000000 0.80357 0.706000 0.40770 5.747000 0.68689 1.632000 0.50472 0.163000 0.16589 GCC TBX2-001 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346977.2 + ENST00000240328.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI NAGK 55577 broad.mit.edu 37 2 71305537 71305538 + Missense_Mutation DNP GC GC TT TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr2:71305537_71305538GC>TT ENST00000418807.3 + 9.0 945_946 c.781_782GC>TT c.(781-783)GCt>TTt p.A261F NAGK_ENST00000443872.2_Missense_Mutation_p.A164F|NAGK_ENST00000455662.2_Missense_Mutation_p.A358F|NAGK_ENST00000443938.2_Missense_Mutation_p.A308F|NAGK_ENST00000244204.6_Missense_Mutation_p.A312F Q9UJ70 NAGK_HUMAN N-acetylglucosamine kinase 312.0 carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262) extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127) breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1) 18.0 N-Acetyl-D-glucosamine(DB00141) GCACTCCTCCGCTCTGGGTGGG 0.584 0 SO:0001583 missense AJ242910 CCDS33220.1, CCDS33220.2 2p24.3-p24.1 2008-02-05 ENSG00000124357 ENSG00000124357 55577.0 55577.0 2.7.1.59 17174.0 protein-coding gene gene with protein product 606828.0 10824116 Standard NM_017567 Approved GNK uc002shp.4 Q9UJ70 OTTHUMG00000153239 Exception_encountered 2.__UNKNOWN__:g.71305537_71305538delinsTT ENSP00000396070:p.Ala261Phe B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37 __UNKNOWN__ NAGK-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000330337.6 + ENST00000418807.3 Missense_Mutation DNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI SLC26A3 1811 broad.mit.edu 37 7 107432375 107432375 + Missense_Mutation SNP A A T TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr7:107432375A>T ENST00000340010.5 - 4.0 466 c.282T>A c.(280-282)ttT>ttA p.F94L SLC26A3_ENST00000422236.2_Missense_Mutation_p.F59L NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 94.0 anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225) anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215) 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) 46.0 CCAGCAGAGCAAATGCTAAAC 0.443 0 103.0 84.0 91.0 7 107432375.0 2203.0 4300.0 6503.0 SO:0001583 missense L02785 CCDS5748.1 7q31 2014-09-17 2013-07-18 ENSG00000091138 ENSG00000091138 1811.0 1811.0 """Solute carriers""" 3018.0 protein-coding gene gene with protein product 126650.0 """congenital chloride diarrhea"", ""solute carrier family 26, member 3""" DRA, CLD 8020951, 11087667 Standard NM_000111 NM_000111 Approved uc003ver.2 P40879 OTTHUMG00000154812 ENST00000340010.5:c.282T>A 7.__UNKNOWN__:g.107432375A>T ENSP00000345873:p.Phe94Leu __UNKNOWN__ CCDS5748.1 . . . . . . . . . . A 23.8 4.455986 0.84209 . . ENSG00000091138 ENST00000422236;ENST00000340010;ENST00000453332 D;D;D 0.91521 -2.86;-2.86;-2.86 5.56 4.42 0.53409 . 0.152839 0.64402 D 0.000015 D 0.91385 0.7282 L 0.53617 1.68 0.36935 D 0.892087 D;D 0.63880 0.993;0.971 P;P 0.56648 0.758;0.803 D 0.92456 0.5974 10 0.46703 T 0.11 . 10.9046 0.47073 0.9266:0.0:0.0734:0.0 . 59;94 G5E9U3;P40879 .;S26A3_HUMAN L 59;94;94 ENSP00000415817:F59L;ENSP00000345873:F94L;ENSP00000395955:F94L ENSP00000345873:F94L F - 3 2 SLC26A3 107219611 1.000000 0.71417 1.000000 0.80357 0.730000 0.41778 3.354000 0.52254 2.112000 0.64535 0.383000 0.25322 TTT SLC26A3-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337190.1 - ENST00000340010.5 Missense_Mutation SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI GGT7 2686 broad.mit.edu 37 20 33442402 33442402 + Silent SNP G G A TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr20:33442402G>A ENST00000336431.5 - 10.0 1295 c.1251C>T c.(1249-1251)gcC>gcT p.A417A NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 417.0 glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370) anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021) gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374) NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20.0 TGCTGGCCAGGGCTAATGCAA 0.552 0 58.0 52.0 54.0 20 33442402.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AL049709 CCDS13242.2 20q11.22 2008-11-24 2008-03-10 2008-03-10 ENSG00000131067 ENSG00000131067 2686.0 2686.0 """Gamma-glutamyltransferases""" 4259.0 protein-coding gene gene with protein product 612342.0 """gamma-glutamyltransferase-like 3""" GGTL5, GGTL3 8104871, 18357469 Standard NM_178026 NM_178026 Approved D20S101, dJ18C9.2 uc002xay.3 Q9UJ14 OTTHUMG00000032314 ENST00000336431.5:c.1251C>T 20.__UNKNOWN__:g.33442402G>A Q8N899|Q8NF66|Q9BYP5|Q9BYP6 __UNKNOWN__ CCDS13242.2 GGT7-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000078816.2 - ENST00000336431.5 Silent SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI SIPA1L2 57568 broad.mit.edu 37 1 232600987 232600987 + Missense_Mutation SNP C C G TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr1:232600987C>G ENST00000366630.1 - 8.0 2777 c.2419G>C c.(2419-2421)Gag>Cag p.E807Q SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E807Q Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 807.0 Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}. regulation of small GTPase mediated signal transduction (GO:0051056) GTPase activator activity (GO:0005096) 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) 103.0 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TTCAAGTACTCCTGCCTCGTT 0.478 0 112.0 111.0 112.0 1 232600987.0 1967.0 4166.0 6133.0 SO:0001583 missense AB037810 CCDS41474.1 1q42.2 2008-02-05 ENSG00000116991 ENSG00000116991 57568.0 57568.0 23800.0 protein-coding gene gene with protein product 611609.0 Standard XM_045839 NM_020808 Approved KIAA1389 uc001hvg.3 Q9P2F8 OTTHUMG00000037820 ENST00000366630.1:c.2419G>C 1.__UNKNOWN__:g.232600987C>G ENSP00000355589:p.Glu807Gln Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6 __UNKNOWN__ CCDS41474.1 . . . . . . . . . . C 28.3 4.906326 0.92107 . . ENSG00000116991 ENST00000366630;ENST00000262861 T;T 0.57752 0.38;0.38 5.8 5.8 0.92144 Rap/ran-GAP (2); 0.000000 0.85682 D 0.000000 T 0.68302 0.2986 L 0.48260 1.515 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.63292 -0.6670 10 0.36615 T 0.2 -38.924 20.053 0.97634 0.0:1.0:0.0:0.0 . 807 Q9P2F8 SI1L2_HUMAN Q 807 ENSP00000355589:E807Q;ENSP00000262861:E807Q ENSP00000262861:E807Q E - 1 0 SIPA1L2 230667610 1.000000 0.71417 0.999000 0.59377 0.979000 0.70002 7.818000 0.86416 2.733000 0.93635 0.650000 0.86243 GAG SIPA1L2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000092318.1 - ENST00000366630.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI ZEB2 9839 broad.mit.edu 37 2 145157124 145157124 + Missense_Mutation SNP T T C TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr2:145157124T>C ENST00000558170.2 - 8.0 2814 c.1630A>G c.(1630-1632)Act>Gct p.T544A ZEB2_ENST00000539609.3_Missense_Mutation_p.T520A|ZEB2_ENST00000303660.4_Missense_Mutation_p.T544A|ZEB2_ENST00000409487.3_Missense_Mutation_p.T544A NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 544.0 cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107.0 BRCA - Breast invasive adenocarcinoma(221;0.112) GAGTCAGTAGTCAAGCTCTGG 0.388 Melanoma(33;1235 1264 5755 16332) 0 110.0 112.0 112.0 2 145157124.0 2203.0 4300.0 6503.0 SO:0001583 missense AB011141 CCDS2186.1, CCDS54403.1 2q22.3 2013-01-08 2007-02-15 2007-02-15 ENSG00000169554 ENSG00000169554 9839.0 9839.0 """Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class""" 14881.0 protein-coding gene gene with protein product """SMAD interacting protein 1""" 605802.0 """zinc finger homeobox 1b""" ZFHX1B Standard NM_014795 NM_014795 Approved KIAA0569, SIP-1, SIP1 uc002tvu.3 O60315 OTTHUMG00000131834 ENST00000558170.2:c.1630A>G 2.__UNKNOWN__:g.145157124T>C ENSP00000454157:p.Thr544Ala A0JP09|B7Z2P2|F5H814|Q9UED1 __UNKNOWN__ CCDS2186.1 . . . . . . . . . . T 14.71 2.617976 0.46736 . . ENSG00000169554 ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902 T;T;T;T 0.79454 -1.27;-1.27;-1.27;-1.27 5.74 5.74 0.90152 . 0.000000 0.85682 D 0.000000 D 0.83303 0.5225 L 0.39898 1.24 0.58432 D 0.999996 P;P;P;D 0.63046 0.744;0.93;0.868;0.992 P;P;P;D 0.77004 0.669;0.504;0.504;0.989 T 0.82602 -0.0376 10 0.38643 T 0.18 -10.4949 16.0439 0.80704 0.0:0.0:0.0:1.0 . 520;409;543;544 F5H814;Q53TD9;A0JP08;O60315 .;.;.;ZEB2_HUMAN A 520;544;544;544 ENSP00000443792:T520A;ENSP00000302501:T544A;ENSP00000386854:T544A;ENSP00000395496:T544A ENSP00000302501:T544A T - 1 0 ZEB2 144873594 1.000000 0.71417 1.000000 0.80357 0.973000 0.67179 6.286000 0.72665 2.180000 0.69256 0.528000 0.53228 ACT ZEB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254778.5 - ENST00000558170.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI GAK 2580 broad.mit.edu 37 4 843541 843541 + Nonsense_Mutation SNP G G A TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr4:843541G>A ENST00000314167.4 - 28.0 3966 c.3856C>T c.(3856-3858)Cag>Tag p.Q1286* GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Nonsense_Mutation_p.Q1207* NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 1286.0 J. {ECO:0000255|PROSITE- ProRule:PRU00286}. cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179) cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39.0 Colorectal(103;0.219) TTGGCGTGCTGCTCGTACGGC 0.677 0 51.0 49.0 49.0 4 843541.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained D88435 CCDS3340.1 4p16 2011-09-07 ENSG00000178950 ENSG00000178950 2580.0 2580.0 """Heat shock proteins / DNAJ (HSP40)""" 4113.0 protein-coding gene gene with protein product """auxilin-2""" 602052.0 9299234 Standard NM_005255 NM_005255 Approved DNAJC26 uc003gbm.4 O14976 OTTHUMG00000088301 ENST00000314167.4:c.3856C>T 4.__UNKNOWN__:g.843541G>A ENSP00000314499:p.Gln1286* Q5U4P5|Q9BVY6 __UNKNOWN__ CCDS3340.1 . . . . . . . . . . G 18.20 3.570306 0.65765 . . ENSG00000178950 ENST00000398567;ENST00000314167;ENST00000511163 . . . 4.76 4.76 0.60689 . 0.176413 0.41712 D 0.000840 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.45353 T 0.12 -31.7985 15.2715 0.73705 0.0:0.0:1.0:0.0 . . . . X 562;1286;1207 . ENSP00000314499:Q1286X Q - 1 0 GAK 833541 1.000000 0.71417 0.924000 0.36721 0.102000 0.19082 5.967000 0.70403 2.167000 0.68274 0.643000 0.83706 CAG GAK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000239188.1 - ENST00000314167.4 Nonsense_Mutation SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI CHRM3 1131 broad.mit.edu 37 1 240072244 240072244 + Missense_Mutation SNP T T G TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr1:240072244T>G ENST00000255380.4 + 5.0 2272 c.1493T>G c.(1492-1494)cTt>cGt p.L498R NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 498.0 cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939) asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872) breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51.0 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246) GCGATCTTGCTTGCCTTCATC 0.493 0 157.0 141.0 147.0 1 240072244.0 2203.0 4300.0 6503.0 SO:0001583 missense U29589 CCDS1616.1 1q43 2012-09-20 ENSG00000133019 ENSG00000133019 1131.0 1131.0 """Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic""" 1952.0 protein-coding gene gene with protein product """acetylcholine receptor, muscarinic 3""" 118494.0 Standard NM_000740 XM_005273032 Approved uc001hyp.3 P20309 OTTHUMG00000039649 ENST00000255380.4:c.1493T>G 1.__UNKNOWN__:g.240072244T>G ENSP00000255380:p.Leu498Arg Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60 __UNKNOWN__ CCDS1616.1 . . . . . . . . . . T 19.01 3.744112 0.69418 . . ENSG00000133019 ENST00000255380 T 0.46063 0.88 5.97 5.97 0.96955 GPCR, rhodopsin-like superfamily (1); 0.248418 0.38272 N 0.001751 T 0.66446 0.2790 M 0.79475 2.455 0.58432 D 0.999994 D 0.76494 0.999 D 0.74023 0.982 T 0.70532 -0.4846 10 0.87932 D 0 -12.4968 16.4473 0.83942 0.0:0.0:0.0:1.0 . 498 P20309 ACM3_HUMAN R 498 ENSP00000255380:L498R ENSP00000255380:L498R L + 2 0 CHRM3 238138867 1.000000 0.71417 0.816000 0.32577 0.985000 0.73830 8.040000 0.89188 2.281000 0.76405 0.533000 0.62120 CTT CHRM3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000095644.2 + ENST00000255380.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI SLC1A3 6507 broad.mit.edu 37 5 36629602 36629602 + Missense_Mutation SNP G G T TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr5:36629602G>T ENST00000265113.4 + 3.0 708 c.232G>T c.(232-234)Gtc>Ttc p.V78F SLC1A3_ENST00000381918.3_Missense_Mutation_p.V78F NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 78.0 auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41.0 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTACCGGGAAGTCAAGTACTT 0.398 0 207.0 188.0 195.0 5 36629602.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS3919.1, CCDS54844.1 5p13 2013-05-22 ENSG00000079215 ENSG00000079215 6507.0 6507.0 """Solute carriers""" 10941.0 protein-coding gene gene with protein product """glutamate transporter variant EAAT1ex9skip""" 600111.0 7521911, 7698014 Standard NM_004172 NM_004172 Approved EAAT1, GLAST, EA6 uc003jkj.4 P43003 OTTHUMG00000090793 ENST00000265113.4:c.232G>T 5.__UNKNOWN__:g.36629602G>T ENSP00000265113:p.Val78Phe B2R5T3|Q4JCQ8 __UNKNOWN__ CCDS3919.1 . . . . . . . . . . G 20.1 3.933179 0.73442 . . ENSG00000079215 ENST00000265113;ENST00000513903;ENST00000505202;ENST00000513646;ENST00000381918 T;T;T;T;T 0.60171 0.21;0.21;0.21;0.21;0.21 6.06 5.19 0.71726 . 0.188443 0.46758 D 0.000277 T 0.58680 0.2139 L 0.45137 1.4 0.49389 D 0.999784 P;P 0.42078 0.466;0.77 B;P 0.48921 0.396;0.595 T 0.62120 -0.6921 10 0.72032 D 0.01 -14.9027 11.3529 0.49598 0.1376:0.0:0.8624:0.0 . 78;78 Q4JCQ8;P43003 .;EAA1_HUMAN F 78 ENSP00000265113:V78F;ENSP00000427203:V78F;ENSP00000424986:V78F;ENSP00000420992:V78F;ENSP00000371343:V78F ENSP00000265113:V78F V + 1 0 SLC1A3 36665359 1.000000 0.71417 0.997000 0.53966 0.999000 0.98932 2.662000 0.46766 1.584000 0.49913 0.655000 0.94253 GTC SLC1A3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207579.2 + ENST00000265113.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI RP11-400N13.1 100422330 bcgsc.ca 37 1 222435758 222435758 + RNA SNP C C A TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr1:222435758C>A ENST00000416510.1 - 0.0 167 GATGCCACTTCCAGTGTGCAC 0.458 0 ENST00000416510.1: 1.__UNKNOWN__:g.222435758C>A __UNKNOWN__ RP11-400N13.1-001 KNOWN basic lincRNA lincRNA OTTHUMT00000090767.1 - ENST00000416510.1 lincRNA SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI RRP7A 27341 ucsc.edu 37 22 42910122 42910122 + Silent SNP G G A TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr22:42910122G>A ENST00000323013.6 - 6.0 762 c.747C>T c.(745-747)agC>agT p.S249S NM_015703.4 NP_056518.2 Q9Y3A4 RRP7A_HUMAN ribosomal RNA processing 7 homolog A (S. cerevisiae) 249.0 nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 10.0 GCTCCATCTTGCTCTCTCGAT 0.657 0 50.0 31.0 38.0 22 42910122.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant BC035992 CCDS14036.1 22q13.2 2008-08-08 ENSG00000189306 ENSG00000189306 27341.0 27341.0 24286.0 protein-coding gene gene with protein product 10810093, 12087473 Standard NM_015703 NM_015703 Approved CGI-96 uc003bcq.3 Q9Y3A4 OTTHUMG00000150891 ENST00000323013.6:c.747C>T 22.__UNKNOWN__:g.42910122G>A A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5 __UNKNOWN__ CCDS14036.1 RRP7A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320451.1 - ENST00000323013.6 Silent SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI KIAA1045 23349 hgsc.bcm.edu 37 9 34972467 34972467 + Missense_Mutation SNP A A G TCGA-QR-A6GU-01A-11D-A35D-08 TCGA-QR-A6GU-10A-01D-A35B-08 A A . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq ab662ec9-f613-4fc7-822b-f365e38d20b8 954a0b13-b7eb-4aa1-be6d-b90151c1c6f1 g.chr9:34972467A>G ENST00000242315.3 + 3.0 585 c.503A>G c.(502-504)gAc>gGc p.D168G KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.D168G NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 168.0 metal ion binding (GO:0046872) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19.0 LUSC - Lung squamous cell carcinoma(32;0.00575) ATCCAAGGAGACAGTGCAGCG 0.592 0 96.0 107.0 103.0 9 34972467.0 2067.0 4203.0 6270.0 SO:0001583 missense AB028968 CCDS43796.1 9p13.2 2008-02-05 ENSG00000122733 ENSG00000122733 23349.0 23349.0 29180.0 protein-coding gene gene with protein product 10470851 Standard XM_048592 NM_015297 Approved uc003zvr.3 Q9UPV7 OTTHUMG00000019844 ENST00000242315.3:c.503A>G 9.__UNKNOWN__:g.34972467A>G ENSP00000242315:p.Asp168Gly B7Z253|Q58FE9|Q5T662 __UNKNOWN__ CCDS43796.1 . . . . . . . . . . a 16.93 3.256824 0.59321 . . ENSG00000122733 ENST00000544237;ENST00000242315 . . . 5.73 5.73 0.89815 Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, FYVE/PHD-type (1); 0.176420 0.49305 D 0.000149 T 0.59649 0.2209 L 0.57536 1.79 0.49213 D 0.999762 B 0.18013 0.025 B 0.20184 0.028 T 0.55398 -0.8147 9 0.30078 T 0.28 -0.0295 15.1984 0.73116 1.0:0.0:0.0:0.0 . 168 Q9UPV7 K1045_HUMAN G 168 . ENSP00000242315:D168G D + 2 0 KIAA1045 34962467 0.999000 0.42202 0.798000 0.32154 0.847000 0.48162 4.112000 0.57845 2.181000 0.69327 0.533000 0.62120 GAC KIAA1045-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052256.2 + ENST00000242315.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GU-Normal-SM-5EQFI RP11-69H14.6 0 broad.mit.edu 37 15 22332570 22332570 + RNA SNP T T C TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr15:22332570T>C ENST00000558896.1 + 0.0 377 CCCATGCTCATCTGCTCCAAT 0.398 0 ENST00000558896.1: 15.__UNKNOWN__:g.22332570T>C __UNKNOWN__ RP11-69H14.6-001 KNOWN basic sense_overlapping sense_overlapping OTTHUMT00000417625.1 + ENST00000558896.1 RNA SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE PHKA2 5256 broad.mit.edu 37 X 18915370 18915370 + Missense_Mutation SNP C C T TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chrX:18915370C>T ENST00000379942.4 - 30.0 3858 c.3193G>A c.(3193-3195)Ggc>Agc p.G1065S NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 1065.0 Calmodulin-binding. {ECO:0000255}. carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886) hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689) 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) 61.0 Hepatocellular(33;0.183) AGCCACTGGCCCTGCCGCTCA 0.622 0 54.0 46.0 49.0 X 18915370.0 2203.0 4298.0 6501.0 SO:0001583 missense CCDS14190.1 Xp22.2-p22.1 2009-07-10 ENSG00000044446 ENSG00000044446 5256.0 5256.0 2.7.11.19 8926.0 protein-coding gene gene with protein product 300798.0 PHK, PYK 2387090 Standard NM_000292 NM_000292 Approved uc004cyv.4 P46019 OTTHUMG00000021222 ENST00000379942.4:c.3193G>A X.__UNKNOWN__:g.18915370C>T ENSP00000369274:p.Gly1065Ser A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1 __UNKNOWN__ CCDS14190.1 . . . . . . . . . . C 20.4 3.988475 0.74589 . . ENSG00000044446 ENST00000379942 D 0.94330 -3.4 5.27 5.27 0.74061 . 0.000000 0.85682 D 0.000000 D 0.96809 0.8958 M 0.82716 2.605 0.80722 D 1 D 0.76494 0.999 D 0.78314 0.991 D 0.96731 0.9539 10 0.46703 T 0.11 -21.1582 18.0547 0.89361 0.0:1.0:0.0:0.0 . 1065 P46019 KPB2_HUMAN S 1065 ENSP00000369274:G1065S ENSP00000369274:G1065S G - 1 0 PHKA2 18825291 1.000000 0.71417 1.000000 0.80357 0.080000 0.17528 7.400000 0.79949 2.199000 0.70637 0.523000 0.50628 GGC PHKA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055960.1 - ENST00000379942.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr11:533874T>C ENST00000451590.1 - 3.0 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R NM_001130442.1|NM_005343.2 NP_001123914.1|NP_005334.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61.0 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022) p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901.0 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6.0 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) yes Dom yes Costello syndrome 11 11p15.5 3265.0 v-Ha-ras Harvey rat sarcoma viral oncogene homolog """E, L, M""" 256 Substitution - Missense(256) skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1) 117.0 102.0 107.0 11 533874.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Facio-Cutaneous-Skeletal syndrome AJ437024 CCDS7698.1, CCDS7699.1 11p15.5 2014-09-17 2013-07-08 ENSG00000174775 ENSG00000174775 3265.0 3265.0 5173.0 protein-coding gene gene with protein product 190020.0 """v-Ha-ras Harvey rat sarcoma viral oncogene homolog""" HRAS1 Standard NM_176795 NM_176795 Approved uc010qvx.2 P01112 OTTHUMG00000131919 ENST00000451590.1:c.182A>G 11.__UNKNOWN__:g.533874T>C ENSP00000407586:p.Gln61Arg B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2 __UNKNOWN__ CCDS7698.1 . . . . . . . . . . T 14.48 2.546606 0.45383 . . ENSG00000174775 ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189 D;D;D;D;D 0.83673 -1.75;-1.75;-1.75;-1.75;-1.75 3.64 3.64 0.41730 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85613 0.5737 M 0.90870 3.155 0.80722 D 1 B;B 0.21071 0.051;0.008 B;B 0.22152 0.022;0.038 D 0.85970 0.1476 10 0.66056 D 0.02 . 11.8872 0.52608 0.0:0.0:0.0:1.0 . 61;61 P01112-2;P01112 .;RASH_HUMAN R 61 ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R ENSP00000309845:Q61R Q - 2 0 HRAS 523874 1.000000 0.71417 0.985000 0.45067 0.482000 0.33219 7.727000 0.84838 1.662000 0.50781 0.459000 0.35465 CAG HRAS-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259403.2 - ENST00000451590.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE ZNF275 10838 broad.mit.edu 37 X 152613127 152613127 + Missense_Mutation SNP G G T TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chrX:152613127G>T ENST00000370249.2 + 2.0 2196 c.825G>T c.(823-825)aaG>aaT p.K275N ZNF275_ENST00000421401.3_Missense_Mutation_p.K328N|ZNF275_ENST00000440091.1_Missense_Mutation_p.K358N|ZNF275_ENST00000370251.3_Intron Q9NSD4 ZN275_HUMAN zinc finger protein 275 328.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16.0 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGTGCGGCAAGGCCTTCCGCC 0.692 0 17.0 18.0 17.0 X 152613127.0 2194.0 4288.0 6482.0 SO:0001583 missense BC041602 Xq28 2013-01-08 ENSG00000063587 ENSG00000063587 10838.0 10838.0 """Zinc fingers, C2H2-type"", ""-""" 13069.0 protein-coding gene gene with protein product Standard NM_001080485 NM_001080485 Approved uc004fhg.2 Q9NSD4 OTTHUMG00000067450 ENST00000370249.2:c.825G>T X.__UNKNOWN__:g.152613127G>T ENSP00000359269:p.Lys275Asn A6NE92 __UNKNOWN__ . . . . . . . . . . G 17.72 3.459684 0.63401 . . ENSG00000063587 ENST00000421401;ENST00000440091;ENST00000370249 T;T;T 0.27890 1.64;1.64;1.64 4.35 2.56 0.30785 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.42053 D 0.000769 T 0.49881 0.1583 . . . 0.39464 D 0.967614 D 0.89917 1.0 D 0.97110 1.0 T 0.46857 -0.9161 8 . . . -25.8796 7.9047 0.29755 0.2128:0.0:0.7872:0.0 . 328 Q9NSD4 ZN275_HUMAN N 328;358;275 ENSP00000398977:K328N;ENSP00000411097:K358N;ENSP00000359269:K275N . K + 3 2 ZNF275 152266321 0.988000 0.35896 0.999000 0.59377 0.686000 0.39977 1.862000 0.39448 0.416000 0.25844 0.436000 0.28706 AAG ZNF275-003 NOVEL basic|appris_principal protein_coding protein_coding OTTHUMT00000144470.2 + ENST00000370249.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE THUMPD2 80745 broad.mit.edu 37 2 39997221 39997221 + Missense_Mutation SNP C C A TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr2:39997221C>A ENST00000505747.1 - 3.0 328 c.301G>T c.(301-303)Gat>Tat p.D101Y THUMPD2_ENST00000454352.2_Missense_Mutation_p.D71Y|THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000260619.6_Missense_Mutation_p.D71Y NM_025264.4 NP_079540.2 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 101.0 methyltransferase activity (GO:0008168)|RNA binding (GO:0003723) endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 17.0 all_hematologic(82;0.248) CTTCCTGGATCTTCATTTATA 0.289 0 43.0 44.0 44.0 2 39997221.0 2189.0 4279.0 6468.0 SO:0001583 missense AF380576 CCDS1805.1, CCDS1805.2 2p22.2 2004-06-04 2004-06-04 2004-06-04 ENSG00000138050 ENSG00000138050 80745.0 80745.0 14890.0 protein-coding gene gene with protein product 611751.0 """chromosome 2 open reading frame 8""" C2orf8 12063391 Standard NM_025264 NM_025264 Approved MGC2454 uc002rru.2 Q9BTF0 OTTHUMG00000102149 ENST00000505747.1:c.301G>T 2.__UNKNOWN__:g.39997221C>A ENSP00000423933:p.Asp101Tyr A8K7I7|Q53TT8|Q53TV0 __UNKNOWN__ CCDS1805.2 . . . . . . . . . . C 14.77 2.635221 0.47049 . . ENSG00000138050 ENST00000505747;ENST00000260619;ENST00000454352 . . . 5.71 5.71 0.89125 . 0.150159 0.56097 D 0.000024 T 0.77598 0.4154 M 0.69823 2.125 0.40811 D 0.983426 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.81914 0.995;0.972;0.98 T 0.77718 -0.2483 8 . . . . 15.3774 0.74621 0.0:1.0:0.0:0.0 . 71;8;101 E7EUG5;B4DP37;Q9BTF0 .;.;THUM2_HUMAN Y 101;71;71 . . D - 1 0 THUMPD2 39850725 0.997000 0.39634 0.980000 0.43619 0.165000 0.22458 2.415000 0.44635 2.686000 0.91538 0.650000 0.86243 GAT THUMPD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000219991.2 - ENST00000505747.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE CUX2 23316 broad.mit.edu 37 12 111729283 111729283 + Silent SNP T T C TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr12:111729283T>C ENST00000261726.6 + 5.0 517 c.363T>C c.(361-363)ttT>ttC p.F121F NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 121.0 cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565) 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) 55.0 CCCCCAGCTTTGACCCCAGTG 0.627 0 47.0 53.0 51.0 12 111729283.0 1944.0 4143.0 6087.0 SO:0001819 synonymous_variant AB006631 CCDS41837.1 12q24.12 2011-06-20 2007-11-07 2007-11-07 ENSG00000111249 ENSG00000111249 23316.0 23316.0 """Homeoboxes / CUT class""" 19347.0 protein-coding gene gene with protein product 610648.0 """cut-like 2 (Drosophila)""" CUTL2 Standard NM_015267 NM_015267 Approved KIAA0293, CDP2 uc001tsa.2 O14529 OTTHUMG00000169546 ENST00000261726.6:c.363T>C 12.__UNKNOWN__:g.111729283T>C A7E2Y4 __UNKNOWN__ CCDS41837.1 CUX2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404765.1 + ENST00000261726.6 Silent SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE HSPBP1 23640 broad.mit.edu 37 19 55773995 55773995 + Missense_Mutation SNP T T C TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr19:55773995T>C ENST00000255631.5 - 9.0 1371 c.1061A>G c.(1060-1062)gAc>gGc p.D354G HSPBP1_ENST00000376343.3_Missense_Mutation_p.D252G|HSPBP1_ENST00000587922.1_Missense_Mutation_p.D354G|HSPBP1_ENST00000433386.2_Missense_Mutation_p.D354G NM_001130106.1|NM_012267.4 NP_001123578.1|NP_036399.3 Q9NZL4 HPBP1_HUMAN HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 357.0 negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457) enzyme inhibitor activity (GO:0004857) endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 8.0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CATGCTGTCGTCCGCTGGGCT 0.622 0 78.0 59.0 66.0 19 55773995.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS33111.1 19q13.42 2008-12-16 ENSG00000133265 ENSG00000133265 23640.0 23640.0 24989.0 protein-coding gene gene with protein product """hsp70 interacting protein"", ""Hsp70 binding protein 1""" 612939.0 10786638, 9830037 Standard NM_012267 NM_001130106 Approved HspBP1, FES1 uc002qkd.3 Q9NZL4 ENST00000255631.5:c.1061A>G 19.__UNKNOWN__:g.55773995T>C ENSP00000255631:p.Asp354Gly B3KQP0|B4DG11|O95351|Q6ZNU5 __UNKNOWN__ CCDS33111.1 . . . . . . . . . . T 11.84 1.758440 0.31137 . . ENSG00000133265 ENST00000433386;ENST00000255631;ENST00000376343 T;T 0.80909 -1.43;-1.43 4.51 4.51 0.55191 . 0.547744 0.18760 N 0.131936 T 0.73806 0.3634 L 0.55990 1.75 0.34145 D 0.666875 B;B 0.19331 0.035;0.035 B;B 0.24155 0.035;0.051 T 0.74106 -0.3772 10 0.32370 T 0.25 . 7.0206 0.24912 0.0:0.1038:0.0:0.8962 . 357;400 Q9NZL4;B4DG11 HPBP1_HUMAN;. G 354;354;252 ENSP00000398244:D354G;ENSP00000255631:D354G ENSP00000255631:D354G D - 2 0 HSPBP1 60465807 0.994000 0.37717 0.923000 0.36655 0.282000 0.26991 3.666000 0.54540 1.817000 0.53016 0.254000 0.18369 GAC HSPBP1-001 KNOWN NAGNAG_splice_site|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452670.1 - ENST00000255631.5 Missense_Mutation SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE CACNA1F 778 broad.mit.edu 37 X 49071913 49071913 + Silent SNP G G A TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chrX:49071913G>A ENST00000376265.2 - 28.0 3421 c.3360C>T c.(3358-3360)taC>taT p.Y1120Y CACNA1F_ENST00000323022.5_Silent_p.Y1109Y|CACNA1F_ENST00000376251.1_Silent_p.Y1055Y NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1120.0 Dihydropyridine binding. {ECO:0000250}. axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891) high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) 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) 85.0 Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661) TGATGATGATGTAGACAATGA 0.493 0 131.0 96.0 108.0 X 49071913.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AA019975 CCDS35253.1, CCDS59166.1, CCDS59167.1 Xp11.23 2013-01-23 2007-02-16 ENSG00000102001 ENSG00000102001 778.0 778.0 """Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels""" 1393.0 protein-coding gene gene with protein product 300110.0 """Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)""" CSNB2, AIED 9344658, 9662400, 16382099, 12111638, 17525176 Standard NM_005183 NM_005183 Approved Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2 uc010nip.3 O60840 OTTHUMG00000022703 ENST00000376265.2:c.3360C>T X.__UNKNOWN__:g.49071913G>A A6NI29|F5CIQ9|O43901|O95226|Q9UHB1 __UNKNOWN__ CCDS35253.1 CACNA1F-007 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000358157.1 - ENST00000376265.2 Silent SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE CDC42BPA 8476 broad.mit.edu 37 1 227333333 227333333 + Missense_Mutation SNP T T C TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr1:227333333T>C ENST00000366769.3 - 8.0 2291 c.1000A>G c.(1000-1002)Ata>Gta p.I334V CDC42BPA_ENST00000366767.3_Missense_Mutation_p.I334V|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.I334V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.I334V NM_003607.3 NP_003598.2 CDC42 binding protein kinase alpha (DMPK-like) NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77.0 all_cancers(173;0.156)|Prostate(94;0.0792) AAGTCTTCTATTCCATTTTGA 0.393 0 121.0 115.0 117.0 1 227333333.0 2203.0 4300.0 6503.0 SO:0001583 missense U59305 CCDS1558.1, CCDS1559.1 1q42.11 2011-11-23 2001-11-28 ENSG00000143776 ENSG00000143776 8476.0 8476.0 1737.0 protein-coding gene gene with protein product """myotonic dystrophy kinase-related Cdc42-binding kinase""" 603412.0 """CDC42-binding protein kinase alpha (DMPK-like)""" Standard NM_014826 NM_003607 Approved MRCKA, PK428, FLJ23347, KIAA0451, MRCK uc001hqr.3 Q5VT25 OTTHUMG00000037618 ENST00000366769.3:c.1000A>G 1.__UNKNOWN__:g.227333333T>C ENSP00000355731:p.Ile334Val __UNKNOWN__ CCDS1558.1 . . . . . . . . . . T 18.31 3.595539 0.66219 . . ENSG00000143776 ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765 T;T;T;T;T;T;T 0.39229 1.09;1.09;1.09;1.09;1.09;1.09;1.09 5.93 5.93 0.95920 . 0.086471 0.85682 D 0.000000 T 0.25975 0.0633 N 0.02539 -0.55 0.80722 D 1 P;B;P;B 0.44044 0.825;0.206;0.825;0.043 P;B;P;B 0.45506 0.483;0.057;0.483;0.028 T 0.27971 -1.0058 10 0.23891 T 0.37 . 16.3766 0.83401 0.0:0.0:0.0:1.0 . 334;334;334;334 F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5 .;.;.;. V 334 ENSP00000355731:I334V;ENSP00000355729:I334V;ENSP00000335341:I334V;ENSP00000355728:I334V;ENSP00000355726:I334V;ENSP00000443275:I334V;ENSP00000355727:I334V ENSP00000335341:I334V I - 1 0 CDC42BPA 225399956 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 8.040000 0.89188 2.263000 0.75096 0.533000 0.62120 ATA CDC42BPA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000091696.1 - ENST00000366769.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE MUC16 94025 broad.mit.edu 37 19 9076861 9076861 + Missense_Mutation SNP C C T TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr19:9076861C>T ENST00000397910.4 - 3.0 10788 c.10585G>A c.(10585-10587)Gac>Aac p.D3529N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3530.0 Thr-rich. cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982) 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) 590.0 GTGGTTACGTCCAGGATGCTC 0.517 0 243.0 232.0 236.0 19 9076861.0 2130.0 4222.0 6352.0 SO:0001583 missense AF414442 CCDS54212.1 19p13.2 2008-02-05 2006-03-14 ENSG00000181143 94025.0 94025.0 """Mucins""" 15582.0 protein-coding gene gene with protein product 606154.0 11369781 Standard NM_024690 XM_006722941 Approved CA125, FLJ14303 uc002mkp.3 Q8WXI7 ENST00000397910.4:c.10585G>A 19.__UNKNOWN__:g.9076861C>T ENSP00000381008:p.Asp3529Asn Q6ZQW5|Q96RK2 __UNKNOWN__ CCDS54212.1 . . . . . . . . . . c 2.137 -0.397659 0.04899 . . ENSG00000181143 ENST00000397910 T 0.02944 4.1 1.76 -3.51 0.04696 . . . . . T 0.01695 0.0054 N 0.08118 0 . . . B 0.02656 0.0 B 0.04013 0.001 T 0.41875 -0.9484 8 0.87932 D 0 . 8.1048 0.30879 0.0:0.491:0.0:0.509 . 3529 B5ME49 . N 3529 ENSP00000381008:D3529N ENSP00000381008:D3529N D - 1 0 MUC16 8937861 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.257000 0.08745 -1.643000 0.01519 -1.786000 0.00637 GAC MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402806.1 - ENST00000397910.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE ZBTB14 7541 broad.mit.edu 37 18 5291780 5291780 + Missense_Mutation SNP T T G TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr18:5291780T>G ENST00000357006.4 - 4.0 765 c.427A>C c.(427-429)Aag>Cag p.K143Q ZBTB14_ENST00000400143.3_Missense_Mutation_p.K143Q NM_001143823.2|NM_001243704.1 NP_001137295.1|NP_001230633.1 O43829 ZBT14_HUMAN zinc finger and BTB domain containing 14 143.0 negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) AGGCAATACTTACTTTTGGAC 0.448 0 136.0 136.0 136.0 18 5291780.0 2203.0 4300.0 6503.0 SO:0001583 missense D89859 CCDS11837.1 18p11.31 2013-09-19 2013-01-08 2013-01-08 ENSG00000198081 ENSG00000198081 7541.0 7541.0 """-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing""" 12860.0 protein-coding gene gene with protein product 602126.0 """zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein""" ZFP161 9244432 Standard NM_003409 NM_001243702 Approved ZNF478 uc010dkp.3 O43829 OTTHUMG00000131563 ENST00000357006.4:c.427A>C 18.__UNKNOWN__:g.5291780T>G ENSP00000349503:p.Lys143Gln O00403|Q2TB80 __UNKNOWN__ CCDS11837.1 . . . . . . . . . . T 16.84 3.233640 0.58886 . . ENSG00000198081 ENST00000357006;ENST00000400143 T;T 0.09911 2.93;2.93 6.07 6.07 0.98685 . 0.138892 0.47852 D 0.000211 T 0.14830 0.0358 N 0.19112 0.55 0.53688 D 0.999975 P 0.51653 0.947 P 0.55965 0.788 T 0.23332 -1.0191 10 0.15066 T 0.55 -27.2317 16.6288 0.85011 0.0:0.0:0.0:1.0 . 143 O43829 ZF161_HUMAN Q 143 ENSP00000349503:K143Q;ENSP00000383009:K143Q ENSP00000349503:K143Q K - 1 0 ZFP161 5281780 1.000000 0.71417 1.000000 0.80357 0.978000 0.69477 2.586000 0.46119 2.326000 0.78906 0.533000 0.62120 AAG ZBTB14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254425.1 - ENST00000357006.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE ZNF613 79898 broad.mit.edu 37 19 52448551 52448551 + Missense_Mutation SNP T T G TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr19:52448551T>G ENST00000293471.6 + 6.0 2094 c.1415T>G c.(1414-1416)aTt>aGt p.I472S ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.I436S NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 472.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19.0 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) TCAGGTCTCATTAACCACCAG 0.423 0 79.0 72.0 75.0 19 52448551.0 2203.0 4300.0 6503.0 SO:0001583 missense AK027565 CCDS12844.1, CCDS33089.1 19q13.41 2013-01-08 79898.0 79898.0 """Zinc fingers, C2H2-type"", ""-""" 25827.0 protein-coding gene gene with protein product 12477932 Standard NM_024840 NM_001031721 Approved FLJ13590 uc002pxz.2 Q6PF04 ENST00000293471.6:c.1415T>G 19.__UNKNOWN__:g.52448551T>G ENSP00000293471:p.Ile472Ser Q96SS9 __UNKNOWN__ CCDS33089.1 . . . . . . . . . . T 13.27 2.187703 0.38609 . . ENSG00000176024 ENST00000293471;ENST00000391794;ENST00000535279 T;T 0.06768 3.26;3.26 3.36 2.34 0.29019 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.37012 N 0.002298 T 0.11623 0.0283 N 0.19112 0.55 0.09310 N 1 D 0.76494 0.999 D 0.72625 0.978 T 0.03981 -1.0987 10 0.59425 D 0.04 . 5.5818 0.17254 0.0:0.2048:0.0:0.7952 . 472 Q6PF04 ZN613_HUMAN S 472;436;146 ENSP00000293471:I472S;ENSP00000375671:I436S ENSP00000293471:I472S I + 2 0 ZNF613 57140363 0.000000 0.05858 1.000000 0.80357 0.995000 0.86356 -0.765000 0.04730 1.543000 0.49345 0.533000 0.62120 ATT ZNF613-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000461104.2 + ENST00000293471.6 Missense_Mutation SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr10:51093329C>T ENST00000402038.3 - 4.0 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584.0 A-domain. carbohydrate metabolic process (GO:0005975) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634) poly(ADP-ribose) glycohydrolase activity (GO:0004649) p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10.0 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318 1 Substitution - Missense(1) kidney(1) 235.0 183.0 198.0 10 51093329.0 692.0 1589.0 2281.0 SO:0001583 missense AF005043 CCDS73130.1 10q11.23 2012-04-20 ENSG00000227345 ENSG00000227345 8505.0 8505.0 3.2.1.143 8605.0 protein-coding gene gene with protein product 603501.0 9115250, 10449915 Standard NM_003631 NM_003631 Approved uc001jif.3 Q86W56 OTTHUMG00000018201 ENST00000402038.3:c.295G>A 10.__UNKNOWN__:g.51093329C>T ENSP00000384408:p.Ala99Thr A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7 __UNKNOWN__ . . . . . . . . . . C 12.89 2.073258 0.36566 . . ENSG00000227345 ENST00000402038 . . . 3.88 2.96 0.34315 . . . . . T 0.46678 0.1405 M 0.61703 1.905 . . . B;B;P;P;P;B 0.41947 0.002;0.003;0.574;0.766;0.766;0.006 B;B;B;B;B;B 0.38616 0.006;0.006;0.191;0.179;0.277;0.01 T 0.56631 -0.7947 7 0.18710 T 0.47 -4.0352 11.9338 0.52862 0.0:0.9123:0.0:0.0877 . 502;584;135;99;124;584 Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4 .;PARG_HUMAN;.;.;.;. T 99 . ENSP00000384408:A99T A - 1 0 PARG 50763335 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 1.907000 0.39897 0.952000 0.37798 0.407000 0.27541 GCA PARG-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal protein_coding protein_coding OTTHUMT00000048011.2 - ENST00000402038.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE TMEM208 29100 broad.mit.edu 37 16 67262480 67262480 + Missense_Mutation SNP A A G TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr16:67262480A>G ENST00000563953.1 + 4.0 461 c.35A>G c.(34-36)gAt>gGt p.D12G TMEM208_ENST00000304800.9_Missense_Mutation_p.D82G|TMEM208_ENST00000563426.1_3'UTR|TMEM208_ENST00000565201.1_Missense_Mutation_p.D82G Q9BTX3 TM208_HUMAN transmembrane protein 208 82.0 autophagy (GO:0006914) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1) 5.0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) TTCTCTGAGGATGGGGCCCTG 0.622 0 51.0 54.0 53.0 16 67262480.0 2154.0 4255.0 6409.0 SO:0001583 missense CCDS45511.1 16q22.1 2008-05-02 ENSG00000168701 ENSG00000168701 29100.0 29100.0 25015.0 protein-coding gene gene with protein product 11042152 Standard NM_014187 NM_014187 Approved HSPC171 uc002esi.2 Q9BTX3 ENST00000563953.1:c.35A>G 16.__UNKNOWN__:g.67262480A>G ENSP00000462217:p.Asp12Gly Q05CT0|Q96D25|Q9NZZ7 __UNKNOWN__ . . . . . . . . . . A 16.03 3.007852 0.54361 . . ENSG00000168701 ENST00000304800 T 0.31510 1.49 5.25 5.25 0.73442 . 0.000000 0.85682 D 0.000000 T 0.29914 0.0748 L 0.50333 1.59 0.80722 D 1 B 0.22346 0.068 B 0.24006 0.05 T 0.05338 -1.0891 10 0.29301 T 0.29 . 14.003 0.64444 1.0:0.0:0.0:0.0 . 82 Q9BTX3 TM208_HUMAN G 82 ENSP00000305892:D82G ENSP00000305892:D82G D + 2 0 TMEM208 65819981 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 8.288000 0.89921 1.991000 0.58162 0.459000 0.35465 GAT TMEM208-007 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000421978.2 + ENST00000563953.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE TEC 7006 broad.mit.edu 37 4 48148342 48148342 + Splice_Site SNP C C T TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr4:48148342C>T ENST00000381501.3 - 12.0 1238 c.1081G>A c.(1081-1083)Gag>Aag p.E361K TEC_ENST00000511471.2_5'UTR NM_003215.2 NP_003206.2 P42680 TEC_HUMAN tec protein tyrosine kinase 361.0 B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246) cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715) breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31.0 TAAGAGTTACCATAGCTGAAT 0.398 0 149.0 142.0 144.0 4 48148342.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant D29767 CCDS3481.1 4p12 2013-02-14 ENSG00000135605 ENSG00000135605 7006.0 7006.0 """Pleckstrin homology (PH) domain containing"", ""SH2 domain containing""" 11719.0 protein-coding gene gene with protein product 600583.0 7934162 Standard NM_003215 Approved PSCTK4 uc003gxz.3 P42680 OTTHUMG00000128623 ENST00000381501.3:c.1081+1G>A 4.__UNKNOWN__:g.48148342C>T B7ZKZ6|Q3MIS5 __UNKNOWN__ CCDS3481.1 . . . . . . . . . . C 17.00 3.275669 0.59649 . . ENSG00000135605 ENST00000381501 T 0.61980 0.06 5.32 5.32 0.75619 Protein kinase-like domain (1); 0.173808 0.49305 D 0.000154 T 0.62134 0.2403 M 0.62723 1.935 0.46044 D 0.99883 B 0.33612 0.419 B 0.33254 0.16 T 0.60454 -0.7260 9 . . . . 19.3599 0.94432 0.0:1.0:0.0:0.0 . 361 P42680 TEC_HUMAN K 361 ENSP00000370912:E361K . E - 1 0 TEC 47843099 1.000000 0.71417 0.996000 0.52242 0.531000 0.34715 5.336000 0.65935 2.646000 0.89796 0.655000 0.94253 GAG TEC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250492.3 Missense_Mutation - ENST00000381501.3 Splice_Site SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE ADAMTS18 170692 broad.mit.edu 37 16 77331217 77331217 + Missense_Mutation SNP T T G TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr16:77331217T>G ENST00000282849.5 - 18.0 3188 c.2770A>C c.(2770-2772)Aaa>Caa p.K924Q NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 924.0 eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331) proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) 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) 118.0 TTGCAGATTTTGGGCTCAGTT 0.398 0 184.0 177.0 179.0 16 77331217.0 2198.0 4300.0 6498.0 SO:0001583 missense AJ311903 CCDS10926.1 16q23 2008-07-29 2005-08-19 ENSG00000140873 ENSG00000140873 170692.0 170692.0 """ADAM metallopeptidases with thrombospondin type 1 motif""" 17110.0 protein-coding gene gene with protein product 607512.0 """a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18""" ADAMTS21 11867212, 17546048 Standard NM_199355 Approved uc002ffc.4 Q8TE60 OTTHUMG00000137619 ENST00000282849.5:c.2770A>C 16.__UNKNOWN__:g.77331217T>G ENSP00000282849:p.Lys924Gln Q6P4R5|Q6ZWJ9 __UNKNOWN__ CCDS10926.1 . . . . . . . . . . T 13.28 2.189467 0.38707 . . ENSG00000140873 ENST00000282849 T 0.59906 0.23 6.06 4.91 0.64330 . 0.227432 0.44285 D 0.000468 T 0.40767 0.1130 N 0.17248 0.465 0.35995 D 0.836999 B;B 0.22909 0.077;0.005 B;B 0.21151 0.033;0.004 T 0.45293 -0.9271 10 0.24483 T 0.36 . 14.0093 0.64486 0.0:0.0:0.1338:0.8662 . 924;924 Q8TE60-2;Q8TE60 .;ATS18_HUMAN Q 924 ENSP00000282849:K924Q ENSP00000282849:K924Q K - 1 0 ADAMTS18 75888718 1.000000 0.71417 0.985000 0.45067 0.897000 0.52465 4.489000 0.60309 2.315000 0.78130 0.533000 0.62120 AAA ADAMTS18-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269037.1 - ENST00000282849.5 Missense_Mutation SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE FRMPD4 9758 broad.mit.edu 37 X 12712508 12712508 + Missense_Mutation SNP G G A rs148666498 TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chrX:12712508G>A ENST00000380682.1 + 9.0 1374 c.868G>A c.(868-870)Gtc>Atc p.V290I NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 290.0 FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}. positive regulation of synapse structural plasticity (GO:0051835) cytoskeleton (GO:0005856)|dendritic spine (GO:0043197) phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22.0 AATTAGCTTCGTCCCAAAAGA 0.413 0 147.0 113.0 124.0 X 12712508.0 2203.0 4300.0 6503.0 SO:0001583 missense AB002314 CCDS35201.1 Xp22.31 2006-02-09 2006-02-09 2006-02-09 ENSG00000169933 ENSG00000169933 9758.0 9758.0 29007.0 protein-coding gene gene with protein product 300838.0 """PDZ domain containing 10""" PDZK10, PDZD10 9205841 Standard XM_045712 NM_014728 Approved KIAA0316 uc004cuz.2 Q14CM0 OTTHUMG00000021138 ENST00000380682.1:c.868G>A X.__UNKNOWN__:g.12712508G>A ENSP00000370057:p.Val290Ile A8K0X9|O15032 __UNKNOWN__ CCDS35201.1 . . . . . . . . . . G 14.12 2.440245 0.43326 . . ENSG00000169933 ENST00000380682;ENST00000429478;ENST00000304087 T 0.06068 3.35 5.15 3.36 0.38483 Band 4.1 domain (1);FERM domain (1); 0.135275 0.48286 D 0.000188 T 0.05547 0.0146 N 0.19112 0.55 0.28983 N 0.888546 P;B 0.48764 0.915;0.341 P;B 0.45276 0.475;0.06 T 0.18681 -1.0329 10 0.39692 T 0.17 . 9.521 0.39135 0.0764:0.0:0.7811:0.1425 . 282;290 B7ZLE1;Q14CM0 .;FRPD4_HUMAN I 290;281;279 ENSP00000370057:V290I ENSP00000304583:V279I V + 1 0 FRMPD4 12622429 1.000000 0.71417 0.921000 0.36526 0.912000 0.54170 3.437000 0.52863 0.486000 0.27676 -0.237000 0.12165 GTC FRMPD4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055771.1 + ENST00000380682.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE ZNF516 9658 broad.mit.edu 37 18 74091638 74091638 + Missense_Mutation SNP G G A TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr18:74091638G>A ENST00000443185.2 - 4.0 2749 c.2432C>T c.(2431-2433)tCc>tTc p.S811F ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 811.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32.0 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) TCCGCTCCGGGAAAGGAAAAC 0.612 0 36.0 43.0 41.0 18 74091638.0 1984.0 4153.0 6137.0 SO:0001583 missense D86975 CCDS74234.1 18q23 2013-01-08 ENSG00000101493 9658.0 9658.0 """Zinc fingers, C2H2-type""" 28990.0 protein-coding gene gene with protein product 615114.0 9039502 Standard NM_014643 NM_014643 Approved HsT287, KIAA0222 uc021ulp.1 Q92618 ENST00000443185.2:c.2432C>T 18.__UNKNOWN__:g.74091638G>A ENSP00000394757:p.Ser811Phe __UNKNOWN__ . . . . . . . . . . G 7.357 0.624007 0.14193 . . ENSG00000101493 ENST00000443185 T 0.10099 2.91 4.31 2.36 0.29203 . 0.637161 0.15461 N 0.261114 T 0.08846 0.0219 . . . 0.09310 N 1 B 0.28971 0.229 B 0.25884 0.064 T 0.24119 -1.0169 9 0.87932 D 0 -8.2587 8.2188 0.31528 0.2011:0.0:0.7989:0.0 . 811 Q92618 ZN516_HUMAN F 811 ENSP00000394757:S811F ENSP00000394757:S811F S - 2 0 ZNF516 72220626 1.000000 0.71417 0.002000 0.10522 0.260000 0.26232 4.823000 0.62694 0.466000 0.27193 -0.258000 0.10820 TCC ZNF516-201 KNOWN basic|appris_principal|exp_conf protein_coding protein_coding - ENST00000443185.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE GOLGA4 2803 broad.mit.edu 37 3 37366507 37366507 + Missense_Mutation SNP A A T TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr3:37366507A>T ENST00000356847.4 + 15.0 3495 c.3196A>T c.(3196-3198)Ata>Tta p.I1066L GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000361924.2_Missense_Mutation_p.I1044L NM_001172713.1 NP_001166184.1 Q13439 GOGA4_HUMAN golgin A4 1044.0 Glu-rich. Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802) GTPase binding (GO:0051020) 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) 65.0 CAATGATGTCATATCAATCTG 0.378 0 65.0 63.0 64.0 3 37366507.0 2203.0 4300.0 6503.0 SO:0001583 missense U31906 CCDS2666.1, CCDS54564.1 3p22-p21.3 2010-02-12 2010-02-12 ENSG00000144674 ENSG00000144674 2803.0 2803.0 4427.0 protein-coding gene gene with protein product """golgin 245""" 602509.0 """golgi autoantigen, golgin subfamily a, 4""" 8626529 Standard NM_002078 NM_002078 Approved GOLG, GCP2, p230, golgin-240 uc003cgw.3 Q13439 OTTHUMG00000130799 ENST00000356847.4:c.3196A>T 3.__UNKNOWN__:g.37366507A>T ENSP00000349305:p.Ile1066Leu F8W8Q7|Q13270|Q13654|Q14436|Q59EW8 __UNKNOWN__ CCDS54564.1 . . . . . . . . . . A 4.261 0.047587 0.08243 . . ENSG00000144674 ENST00000361924;ENST00000356847;ENST00000437131 T;T;T 0.22743 1.95;1.94;1.95 5.42 -3.23 0.05109 . 0.191634 0.25717 N 0.028778 T 0.14313 0.0346 L 0.36672 1.1 0.09310 N 1 B;B;B;B 0.15930 0.015;0.015;0.004;0.005 B;B;B;B 0.15484 0.013;0.008;0.008;0.003 T 0.23691 -1.0181 10 0.27785 T 0.31 . 13.8517 0.63501 0.5112:0.0:0.4888:0.0 . 1044;1044;1066;1044 Q13439-3;Q13439-4;F8W8Q7;Q13439 .;.;.;GOGA4_HUMAN L 1044;1066;915 ENSP00000354486:I1044L;ENSP00000349305:I1066L;ENSP00000405842:I915L ENSP00000349305:I1066L I + 1 0 GOLGA4 37341511 0.000000 0.05858 0.000000 0.03702 0.325000 0.28411 0.017000 0.13399 -0.459000 0.07013 -1.054000 0.02325 ATA GOLGA4-006 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000342257.2 + ENST00000356847.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE TUBB4A 10382 broad.mit.edu 37 19 6495551 6495551 + Missense_Mutation SNP C C T TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr19:6495551C>T ENST00000264071.2 - 4.0 1330 c.959G>A c.(958-960)cGc>cAc p.R320H TUBB4A_ENST00000540257.1_Missense_Mutation_p.R320H P04350 TBB4A_HUMAN tubulin, beta 4A class IVa 320.0 'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258) cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200) CATGGACATGCGGCCCCGGAA 0.637 0 114.0 97.0 103.0 19 6495551.0 2203.0 4300.0 6503.0 SO:0001583 missense AK075307 CCDS12168.1 19p13.3 2014-02-05 2011-10-11 2011-10-10 ENSG00000104833 ENSG00000104833 10382.0 10382.0 """Tubulins""" 20774.0 protein-coding gene gene with protein product """class IVa beta-tubulin""" 602662.0 """tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)""" TUBB4, DYT4 6865944, 6462917, 23595291 Standard NM_006087 NM_001289123 Approved beta-5 uc002mfg.1 P04350 ENST00000264071.2:c.959G>A 19.__UNKNOWN__:g.6495551C>T ENSP00000264071:p.Arg320His B3KQP4|Q969E5 __UNKNOWN__ CCDS12168.1 . . . . . . . . . . C 13.89 2.373060 0.42105 . . ENSG00000104833 ENST00000264071;ENST00000540257;ENST00000412858 D;D 0.84298 -1.83;-1.83 3.43 3.43 0.39272 . 0.000000 0.64402 D 0.000001 D 0.82852 0.5127 M 0.64630 1.985 0.52501 D 0.999955 B 0.12630 0.006 B 0.10450 0.005 T 0.82285 -0.0533 10 0.87932 D 0 . 13.6752 0.62449 0.0:1.0:0.0:0.0 . 320 P04350 TBB4A_HUMAN H 320;320;238 ENSP00000264071:R320H;ENSP00000443590:R320H ENSP00000264071:R320H R - 2 0 TUBB4 6446551 1.000000 0.71417 1.000000 0.80357 0.981000 0.71138 7.580000 0.82523 1.473000 0.48159 0.306000 0.20318 CGC TUBB4A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457841.1 - ENST00000264071.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE AC022596.6 0 broad.mit.edu 37 17 16723346 16723346 + RNA SNP C C T TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr17:16723346C>T ENST00000417510.1 - 0.0 773 GTCCAGCACCCCAGCACCTGG 0.557 0 ENST00000417510.1: 17.__UNKNOWN__:g.16723346C>T __UNKNOWN__ AC022596.6-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000131123.1 - ENST00000417510.1 RNA SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE LATS2 26524 broad.mit.edu 37 13 21555612 21555612 + Silent SNP G G T TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr13:21555612G>T ENST00000382592.4 - 6.0 3063 c.2658C>A c.(2656-2658)ctC>ctA p.L886L LATS2_ENST00000542899.1_Silent_p.L886L NM_014572.2 NP_055387.2 large tumor suppressor kinase 2 breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45.0 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) TACCTTTGCGGAGGAGCACCT 0.607 0 70.0 57.0 61.0 13 21555612.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB028019 CCDS9294.1 13q11-q12 2013-04-25 2013-04-25 ENSG00000150457 ENSG00000150457 26524.0 26524.0 6515.0 protein-coding gene gene with protein product 604861.0 """LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)""" 10673337 Standard NM_014572 Approved uc001unr.4 Q9NRM7 OTTHUMG00000016531 ENST00000382592.4:c.2658C>A 13.__UNKNOWN__:g.21555612G>T __UNKNOWN__ CCDS9294.1 LATS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044102.1 - ENST00000382592.4 Silent SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE BCL2L2 599 broad.mit.edu 37 14 23778132 23778132 + Frame_Shift_Del DEL G G - TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr14:23778132delG ENST00000250405.5 + 4.0 769 c.540delG c.(538-540)ctgfs p.L180fs BCL2L2-PABPN1_ENST00000557008.1_Intron|BCL2L2-PABPN1_ENST00000553781.1_Intron NM_001199839.1|NM_004050.4 NP_001186768.1|NP_004041 Q92843 B2CL2_HUMAN BCL2-like 2 180.0 extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|Sertoli cell proliferation (GO:0060011)|spermatogenesis (GO:0007283) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741) protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803) central_nervous_system(1)|lung(4)|prostate(1) 6.0 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00654) CCGTGGCACTGGGGGCCCTGG 0.652 0 38.0 46.0 44.0 14 23778132.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant D87461 CCDS9591.1 14q11.2-q12 2014-03-07 ENSG00000129473 ENSG00000129473 599.0 599.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 995.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 51""" 601931.0 8761287 Standard NM_004050 NM_001199839 Approved KIAA0271, BCL-W, PPP1R51 Q92843 OTTHUMG00000028738 ENST00000250405.5:c.540delG 14.__UNKNOWN__:g.23778132delG ENSP00000250405:p.Leu180fs A8K0F4|Q2M3U0|Q5U0H4 __UNKNOWN__ CCDS9591.1 BCL2L2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000071763.3 + ENST00000250405.5 Frame_Shift_Del DEL PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE RNF20 56254 broad.mit.edu 37 9 104307131 104307133 + In_Frame_Del DEL TCT TCT - TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr9:104307131_104307133delTCT ENST00000389120.3 + 6.0 801_803 c.711_713delTCT c.(709-714)gatctt>gat p.L239del NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 239.0 histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511) HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151) chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54.0 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) AATTGACAGATCTTCTTCAGGAA 0.458 0 0,4264 0,0,2132 5.9 1.0 147.0 1,8251 0,1,4125 no coding RNF20 NM_019592.5 0,1,6257 A1A1,A1R,RR 0.0121,0.0,0.0080 1,12515 SO:0001651 inframe_deletion AF265230 CCDS35084.1 9q22 2012-02-23 2012-02-23 2008-12-12 ENSG00000155827 ENSG00000155827 56254.0 56254.0 """RING-type (C3HC4) zinc fingers""" 10062.0 protein-coding gene gene with protein product """BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)""" 607699.0 """ring finger protein 20""" 16337599, 12876294, 18832071, 19037095 Standard NM_019592 NM_019592 Approved FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1 uc004bbn.3 Q5VTR2 OTTHUMG00000020385 ENST00000389120.3:c.711_713delTCT 9.__UNKNOWN__:g.104307134_104307136delTCT ENSP00000373772:p.Leu239del A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83 __UNKNOWN__ CCDS35084.1 RNF20-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356402.1 + ENST00000389120.3 In_Frame_Del DEL PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE Unknown 0 bcgsc.ca 37 15 80035775 80035775 + RNA SNP C C G TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr15:80035775C>G KIAA1024 (271143 upstream) : RNU6-667P (73915 downstream) GGAGCACGTCCATCTTTGGAG 0.463 0 SO:0001628 intergenic_variant 15.__UNKNOWN__:g.80035775C>G __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE ANK2 287 ucsc.edu 37 4 114213606 114213606 + Missense_Mutation SNP A A G TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr4:114213606A>G ENST00000264366.6 + 21.0 2312 c.2312A>G c.(2311-2313)cAg>cGg p.Q771R ANK2_ENST00000394537.3_Missense_Mutation_p.Q771R|ANK2_ENST00000506722.1_Missense_Mutation_p.Q750R|ANK2_ENST00000357077.4_Missense_Mutation_p.Q771R Q01484 ANK2_HUMAN ankyrin 2, neuronal 771.0 atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005) A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018) ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200) 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) 248.0 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GCCGCTCAGCAGGGTCACACG 0.622 0 57.0 40.0 46.0 4 114213606.0 2203.0 4300.0 6503.0 SO:0001583 missense M37123 CCDS3702.1, CCDS43261.1, CCDS54796.1 4q25-q26 2014-09-17 2003-03-12 ENSG00000145362 ENSG00000145362 287.0 287.0 """Ankyrin repeat domain containing""" 493.0 protein-coding gene gene with protein product 106410 """long (electrocardiographic) QT syndrome 4""" LQT4 7485162, 12571597 Standard NM_001148 NM_001148 Approved uc003ibe.4 Q01484 OTTHUMG00000132912 ENST00000264366.6:c.2312A>G 4.__UNKNOWN__:g.114213606A>G ENSP00000264366:p.Gln771Arg Q01485|Q08AC7|Q08AC8|Q7Z3L5 __UNKNOWN__ CCDS43261.1 . . . . . . . . . . A 31 5.066294 0.93898 . . ENSG00000145362 ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056 T;T;T;T;T;T;T 0.64438 -0.1;-0.1;-0.1;-0.1;-0.05;-0.1;-0.1 5.39 5.39 0.77823 Ankyrin repeat-containing domain (3); 0.000000 0.49305 D 0.000157 T 0.64182 0.2575 N 0.11106 0.095 0.80722 D 1 D;D;P;B;P 0.71674 0.998;0.995;0.763;0.026;0.702 D;D;P;B;P 0.87578 0.998;0.952;0.635;0.035;0.907 T 0.72323 -0.4328 10 0.72032 D 0.01 . 15.4051 0.74871 1.0:0.0:0.0:0.0 . 771;771;771;750;750 Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9 ANK2_HUMAN;.;.;.;. R 750;717;750;786;771;771;771;750 ENSP00000423799:Q750R;ENSP00000421011:Q717R;ENSP00000421067:Q750R;ENSP00000424722:Q786R;ENSP00000378044:Q771R;ENSP00000349588:Q771R;ENSP00000264366:Q771R ENSP00000264366:Q771R Q + 2 0 ANK2 114433055 1.000000 0.71417 1.000000 0.80357 0.978000 0.69477 9.243000 0.95416 2.026000 0.59711 0.528000 0.53228 CAG ANK2-026 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000386954.1 + ENST00000264366.6 Missense_Mutation SNP PCPG-TCGA-QR-A6GW-Normal-SM-5EQGE GMPR 2766 broad.mit.edu 37 6 16274725 16274725 + Missense_Mutation SNP C C T TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr6:16274725C>T ENST00000259727.4 + 5.0 659 c.545C>T c.(544-546)cCa>cTa p.P182L NM_006877.3 NP_006868.3 P36959 GMPR1_HUMAN guanosine monophosphate reductase 182.0 nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|GMP reductase complex (GO:1902560) GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 20.0 Breast(50;0.0427)|Ovarian(93;0.103) all_hematologic(90;0.0895) GGAGTTGGACCAGGTAAGACT 0.512 0 132.0 127.0 129.0 6 16274725.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS4537.1 6p23 2009-07-10 ENSG00000137198 ENSG00000137198 2766.0 2766.0 1.7.1.7 4376.0 protein-coding gene gene with protein product 139265.0 2194676 Standard NM_006877 Approved uc003nbs.3 P36959 OTTHUMG00000014302 ENST00000259727.4:c.545C>T 6.__UNKNOWN__:g.16274725C>T ENSP00000259727:p.Pro182Leu Q96HQ6 __UNKNOWN__ CCDS4537.1 . . . . . . . . . . C 34 5.369020 0.95900 . . ENSG00000137198 ENST00000259727 D 0.82619 -1.63 5.91 5.91 0.95273 Aldolase-type TIM barrel (1);IMP dehydrogenase / GMP reductase, conserved site (1);IMP dehydrogenase/GMP reductase (1); 0.000000 0.85682 D 0.000000 D 0.95850 0.8649 H 0.99732 4.735 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 D 0.97487 1.0051 10 0.87932 D 0 -1.8425 19.8936 0.96942 0.0:1.0:0.0:0.0 . 182 P36959 GMPR1_HUMAN L 182 ENSP00000259727:P182L ENSP00000259727:P182L P + 2 0 GMPR 16382704 1.000000 0.71417 1.000000 0.80357 0.893000 0.52053 7.301000 0.78850 2.793000 0.96121 0.655000 0.94253 CCA GMPR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039942.2 + ENST00000259727.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ CROCCP2 0 broad.mit.edu 37 1 16956575 16956575 + RNA SNP G G A TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr1:16956575G>A ENST00000412962.1 - 0.0 294 Q86T23 CROL1_HUMAN ciliary rootlet coiled-coil, rootletin pseudogene 2 centrosome organization (GO:0051297) ciliary rootlet (GO:0035253) TCTCGCTGTCGCTAAGCTGCT 0.647 0 AK090414 1p36.13 2010-07-08 2010-07-08 2010-07-08 ENSG00000215908 ENSG00000215908 84809.0 84809.0 28170.0 pseudogene pseudogene """ciliary rootlet coiled-coil, rootletin-like 1""" CROCCL1 12477932 Standard NR_026752.1 NR_026752 Approved MGC12760 uc001azf.3 Q86T23 OTTHUMG00000037884 ENST00000412962.1: 1.__UNKNOWN__:g.16956575G>A Q8NF65|Q96FR5|Q9BRE8 __UNKNOWN__ CROCCP2-003 KNOWN basic lincRNA lincRNA OTTHUMT00000092784.1 - ENST00000412962.1 lincRNA SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ BZRAP1 9256 broad.mit.edu 37 17 56386005 56386005 + Missense_Mutation SNP T T C TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr17:56386005T>C ENST00000268893.6 - 21.0 5287 c.4448A>G c.(4447-4449)aAt>aGt p.N1483S BZRAP1_ENST00000343736.4_Missense_Mutation_p.N1543S|BZRAP1_ENST00000355701.3_Missense_Mutation_p.N1543S NM_024418.2 NP_077729.1 O95153 RIMB1_HUMAN benzodiazepine receptor (peripheral) associated protein 1 1543.0 cytoplasm (GO:0005737)|mitochondrion (GO:0005739) benzodiazepine receptor binding (GO:0030156) 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) 54.0 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGGGCCTGAATTGGCCTTCGG 0.677 0 T SER/ASN,SER/ASN 1,4405 0,1,2202 29.0 31.0 30.0 4448,4628 -1.5 0.5 17 30.0 0,8598 0,0,4299 no missense,missense BZRAP1 NM_024418.1,NM_004758.2 46,46 0,1,6501 CC,CT,TT 0.0,0.0227,0.0077 benign,benign 1483/1798,1543/1858 56386005.0 1,13003 2203.0 4299.0 6502.0 SO:0001583 missense AB014512 CCDS11605.1, CCDS45742.1 17q22-q23 2014-01-09 2014-01-09 9256.0 9256.0 16831.0 protein-coding gene gene with protein product 610764.0 9734811, 9915832 Standard NM_004758 NM_004758 Approved PRAX-1, KIAA0612, RIM-BP1, RIMBP1 uc002ivx.5 O95153 ENST00000268893.6:c.4448A>G 17.__UNKNOWN__:g.56386005T>C ENSP00000268893:p.Asn1483Ser O75111|Q8N5W3 __UNKNOWN__ CCDS45742.1 . . . . . . . . . . T 4.073 0.011482 0.07912 2.27E-4 0.0 ENSG00000005379 ENST00000355701;ENST00000343736;ENST00000268893 T;T;T 0.04275 3.66;3.66;3.67 5.26 -1.46 0.08800 . 1.110590 0.06523 N 0.739955 T 0.02304 0.0071 N 0.12746 0.255 0.09310 N 1 B;B;B 0.16166 0.001;0.016;0.008 B;B;B 0.14023 0.001;0.01;0.005 T 0.46992 -0.9151 10 0.08837 T 0.75 . 3.2281 0.06739 0.148:0.4746:0.152:0.2254 . 1543;1483;1543 B7ZVZ7;O95153-2;O95153 .;.;RIMB1_HUMAN S 1543;1543;1483 ENSP00000347929:N1543S;ENSP00000345824:N1543S;ENSP00000268893:N1483S ENSP00000268893:N1483S N - 2 0 BZRAP1 53741004 0.000000 0.05858 0.534000 0.28014 0.714000 0.41099 -1.092000 0.03366 0.034000 0.15491 0.374000 0.22700 AAT BZRAP1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000443978.1 - ENST00000268893.6 Missense_Mutation SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ SAMD9L 219285 broad.mit.edu 37 7 92763379 92763379 + Missense_Mutation SNP G G A TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr7:92763379G>A ENST00000318238.4 - 5.0 3122 c.1906C>T c.(1906-1908)Ccc>Tcc p.P636S SAMD9L_ENST00000437805.1_Missense_Mutation_p.P636S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.P636S NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 636.0 common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145) early endosome (GO:0005769) 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) 88.0 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) CCACGGGCGGGCAAAAACCTT 0.398 0 85.0 87.0 87.0 7 92763379.0 2203.0 4299.0 6502.0 SO:0001583 missense AB095926 CCDS34681.1 7q21.2 2013-01-10 2005-04-26 ENSG00000177409 ENSG00000177409 219285.0 219285.0 """Sterile alpha motif (SAM) domain containing""" 1349.0 protein-coding gene gene with protein product 611170.0 """chromosome 7 open reading frame 6""" C7orf6 Standard NM_152703 NM_152703 Approved KIAA2005, FLJ39885 uc003umh.1 Q8IVG5 OTTHUMG00000155807 ENST00000318238.4:c.1906C>T 7.__UNKNOWN__:g.92763379G>A ENSP00000326247:p.Pro636Ser A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875 __UNKNOWN__ CCDS34681.1 . . . . . . . . . . G 18.25 3.582453 0.65992 . . ENSG00000177409 ENST00000318238;ENST00000411955;ENST00000437805 T;T;T 0.38887 1.11;1.11;1.11 4.86 3.98 0.46160 . 0.076822 0.50627 N 0.000101 T 0.54902 0.1887 M 0.69823 2.125 0.46701 D 0.999167 D 0.67145 0.996 P 0.54924 0.764 T 0.61598 -0.7030 10 0.87932 D 0 -4.6903 12.8163 0.57667 0.0802:0.0:0.9198:0.0 . 636 Q8IVG5 SAM9L_HUMAN S 636 ENSP00000326247:P636S;ENSP00000405760:P636S;ENSP00000408796:P636S ENSP00000326247:P636S P - 1 0 SAMD9L 92601315 1.000000 0.71417 0.992000 0.48379 0.755000 0.42902 5.258000 0.65479 1.266000 0.44231 0.467000 0.42956 CCC SAMD9L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000341730.1 - ENST00000318238.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ SCAF8 22828 broad.mit.edu 37 6 155126575 155126575 + Silent SNP A A C TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr6:155126575A>C ENST00000367178.3 + 9.0 1512 c.936A>C c.(934-936)ctA>ctC p.L312L SCAF8_ENST00000367186.4_Silent_p.L378L|SCAF8_ENST00000417268.1_Silent_p.L312L NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 312.0 Gln-rich. mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681) nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175) breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46.0 AGCAAAACCTAGAACATCTCA 0.358 0 80.0 78.0 79.0 6 155126575.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB029039 CCDS5247.1, CCDS69226.1, CCDS75541.1 6q25.1-q25.3 2013-02-12 2011-01-10 2011-01-10 ENSG00000213079 ENSG00000213079 22828.0 22828.0 """RNA binding motif (RRM) containing""" 20959.0 protein-coding gene gene with protein product """RNA binding motif protein 16""" RBM16 10470851 Standard NM_014892 NM_001286189 Approved KIAA1116 uc003qpz.3 Q9UPN6 OTTHUMG00000015877 ENST00000367178.3:c.936A>C 6.__UNKNOWN__:g.155126575A>C B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43 __UNKNOWN__ CCDS5247.1 SCAF8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042798.1 + ENST00000367178.3 Silent SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ FAM194A 131831 broad.mit.edu 37 3 150377880 150377880 + Silent SNP C C T TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr3:150377880C>T ENST00000295910.6 - 14.0 1843 c.1791G>A c.(1789-1791)ctG>ctA p.L597L FAM194A_ENST00000491361.1_Silent_p.L451L NM_152394.3 NP_689607.2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38.0 TTAAACTGGCCAGCAGAAGAA 0.438 0 110.0 114.0 113.0 3 150377880.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant ENST00000295910.6:c.1791G>A 3.__UNKNOWN__:g.150377880C>T __UNKNOWN__ CCDS3151.2 FAM194A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257666.1 - ENST00000295910.6 Silent SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ MTOR 2475 broad.mit.edu 37 1 11169377 11169377 + Missense_Mutation SNP T T A TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr1:11169377T>A ENST00000361445.4 - 56.0 7574 c.7498A>T c.(7498-7500)Att>Ttt p.I2500F MTOR_ENST00000376838.1_Missense_Mutation_p.I705F NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2500.0 PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}. cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932) ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156) breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149.0 Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287) CTGTTAATAATCTGGATAGCT 0.408 0 177.0 156.0 163.0 1 11169377.0 2203.0 4300.0 6503.0 SO:0001583 missense L34075 CCDS127.1 1p36 2014-09-17 2009-05-29 2009-05-29 ENSG00000198793 ENSG00000198793 2475.0 2475.0 3942.0 protein-coding gene gene with protein product """FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin""" 601231.0 """FK506 binding protein 12-rapamycin associated protein 1""" FRAP, FRAP2, FRAP1 8008069, 8660990 Standard NM_004958 NM_004958 Approved RAFT1, RAPT1, FLJ44809 uc001asd.3 P42345 OTTHUMG00000002001 ENST00000361445.4:c.7498A>T 1.__UNKNOWN__:g.11169377T>A ENSP00000354558:p.Ile2500Phe Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3 __UNKNOWN__ CCDS127.1 . . . . . . . . . . T 34 5.335683 0.95758 . . ENSG00000198793 ENST00000361445;ENST00000376838;ENST00000455339 T;T;T 0.30182 3.07;2.84;1.54 5.82 5.82 0.92795 Phosphatidylinositol 3-/4-kinase, catalytic (1); 0.047538 0.85682 D 0.000000 T 0.58921 0.2156 M 0.87328 2.875 0.80722 D 1 D 0.71674 0.998 D 0.64506 0.926 T 0.66650 -0.5870 10 0.87932 D 0 -10.0412 13.9151 0.63893 0.0:0.0:0.0:1.0 . 2500 P42345 MTOR_HUMAN F 2500;705;156 ENSP00000354558:I2500F;ENSP00000366034:I705F;ENSP00000398745:I156F ENSP00000354558:I2500F I - 1 0 MTOR 11091964 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 7.466000 0.80914 2.223000 0.72356 0.482000 0.46254 ATT MTOR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000005558.1 - ENST00000361445.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ ABCB5 340273 broad.mit.edu 37 7 20698192 20698192 + Missense_Mutation SNP G G A TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr7:20698192G>A ENST00000404938.2 + 14.0 2252 c.1600G>A c.(1600-1602)Gca>Aca p.A534T ABCB5_ENST00000406935.1_Missense_Mutation_p.A89T|ABCB5_ENST00000258738.6_Missense_Mutation_p.A89T|ABCB5_ENST00000443026.2_Missense_Mutation_p.A89T NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 534.0 ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562) 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) 77.0 ACAGAGGATCGCAATTGCTCG 0.433 0 132.0 115.0 121.0 7 20698192.0 2203.0 4300.0 6503.0 SO:0001583 missense U66692 CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1 7p14 2012-03-14 ENSG00000004846 ENSG00000004846 340273.0 340273.0 """ATP binding cassette transporters / subfamily B""" 46.0 protein-coding gene gene with protein product """P-glycoprotein ABCB5"", ""ATP-binding cassette protein""" 611785.0 8894702, 12960149 Standard NM_178559 NM_001163942 Approved EST422562, ABCB5beta, ABCB5alpha uc010kuh.3 Q2M3G0 OTTHUMG00000094789 ENST00000404938.2:c.1600G>A 7.__UNKNOWN__:g.20698192G>A ENSP00000384881:p.Ala534Thr A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1 __UNKNOWN__ CCDS55090.1 . . . . . . . . . . G 31 5.087543 0.94100 . . ENSG00000004846 ENST00000404938;ENST00000443026;ENST00000406935;ENST00000258738 D;D;D;D 0.94576 -1.94;-3.46;-3.46;-1.94 5.77 5.77 0.91146 ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2); 0.000000 0.64402 D 0.000011 D 0.97405 0.9151 M 0.80183 2.485 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 0.997;1.0;0.999;1.0 D 0.97524 1.0075 10 0.87932 D 0 . 19.335 0.94312 0.0:0.0:1.0:0.0 . 89;534;89;89 B5MD19;A7BKA4;Q2M3G0;Q2M3G0-2 .;.;ABCB5_HUMAN;. T 534;89;89;89 ENSP00000384881:A534T;ENSP00000406730:A89T;ENSP00000383899:A89T;ENSP00000258738:A89T ENSP00000258738:A89T A + 1 0 ABCB5 20664717 1.000000 0.71417 0.872000 0.34217 0.592000 0.36648 7.786000 0.85741 2.890000 0.99128 0.650000 0.86243 GCA ABCB5-004 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000326736.2 + ENST00000404938.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ ZNF319 0 broad.mit.edu 37 16 58032116 58032116 + Silent SNP T T A TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr16:58032116T>A ENST00000299237.2 - 2.0 676 c.54A>T c.(52-54)ccA>ccT p.P18P NM_020807.1 NP_065858.1 Q9P2F9 ZN319_HUMAN zinc finger protein 319 18.0 Pro-rich. regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8.0 GAGGCTGCGGTGGCTGTGGCT 0.637 0 49.0 53.0 51.0 16 58032116.0 2198.0 4298.0 6496.0 SO:0001819 synonymous_variant AB037809 CCDS32462.1 16q21 2013-01-08 ENSG00000166188 57567.0 """Zinc fingers, C2H2-type""" 13644.0 protein-coding gene gene with protein product 10718198, 11161788 Standard XM_005256069 Approved KIAA1388, Zfp319 uc002emx.1 Q9P2F9 ENST00000299237.2:c.54A>T 16.__UNKNOWN__:g.58032116T>A Q52LH8 __UNKNOWN__ CCDS32462.1 ZNF319-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000430317.1 - ENST00000299237.2 Silent SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ AFAP1L1 134265 broad.mit.edu 37 5 148679174 148679174 + Missense_Mutation SNP T T C TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr5:148679174T>C ENST00000296721.4 + 2.0 217 c.119T>C c.(118-120)aTc>aCc p.I40T AFAP1L1_ENST00000515000.1_Missense_Mutation_p.I40T|AFAP1L1_ENST00000522492.1_3'UTR NM_001146337.1|NM_152406.2 NP_001139809.1|NP_689619.1 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 40.0 cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26.0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGCCTCCATCCTGCAGAGC 0.602 0 70.0 68.0 69.0 5 148679174.0 2203.0 4300.0 6503.0 SO:0001583 missense AK094067 CCDS34274.1, CCDS54932.1 5q33.1 2013-01-10 ENSG00000157510 ENSG00000157510 134265.0 134265.0 """Pleckstrin homology (PH) domain containing""" 26714.0 protein-coding gene gene with protein product 614410.0 Standard NM_152406 NM_152406 Approved FLJ36748 uc003lqh.3 Q8TED9 OTTHUMG00000163441 ENST00000296721.4:c.119T>C 5.__UNKNOWN__:g.148679174T>C ENSP00000296721:p.Ile40Thr Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4 __UNKNOWN__ CCDS34274.1 . . . . . . . . . . T 18.81 3.702353 0.68501 . . ENSG00000157510 ENST00000296721;ENST00000515000 T;T 0.45276 0.9;0.9 4.78 4.78 0.61160 . 0.177079 0.48767 D 0.000167 T 0.50240 0.1604 M 0.65498 2.005 0.45390 D 0.998371 P;P;P 0.42692 0.561;0.747;0.787 P;B;P 0.46362 0.514;0.399;0.447 T 0.57476 -0.7805 10 0.87932 D 0 -16.1933 14.7627 0.69617 0.0:0.0:0.0:1.0 . 40;40;40 Q8TED9-2;Q8TED9;Q8TED9-3 .;AF1L1_HUMAN;. T 40 ENSP00000296721:I40T;ENSP00000424427:I40T ENSP00000296721:I40T I + 2 0 AFAP1L1 148659367 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 7.144000 0.77357 2.127000 0.65507 0.533000 0.62120 ATC AFAP1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000373443.1 + ENST00000296721.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ DPEP1 1800 broad.mit.edu 37 16 89702399 89702399 + Missense_Mutation SNP G G A TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr16:89702399G>A ENST00000393092.3 + 3.0 479 c.188G>A c.(187-189)gGc>gAc p.G63D DPEP1_ENST00000421184.1_Missense_Mutation_p.G63D|DPEP1_ENST00000261615.4_Missense_Mutation_p.G63D NM_004413.3 NP_004404.1 P16444 DPEP1_HUMAN dipeptidase 1 (renal) 63.0 antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281) anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270) large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 14.0 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) ACCTTGGCCGGCACACACACC 0.637 0 SO:0001583 missense CCDS10982.1 16q24 2011-07-22 ENSG00000015413 ENSG00000015413 1800.0 1800.0 3.4.13.19 3002.0 protein-coding gene gene with protein product 179780.0 Standard NM_001128141 NM_004413 Approved uc002fnr.4 P16444 OTTHUMG00000138052 ENST00000393092.3:c.188G>A 16.__UNKNOWN__:g.89702399G>A ENSP00000376807:p.Gly63Asp D3DX80|Q96AK2 __UNKNOWN__ CCDS10982.1 . . . . . . . . . . G 5.767 0.325901 0.10900 . . ENSG00000015413 ENST00000421184;ENST00000393092;ENST00000261615 T;T;T 0.19394 2.15;2.15;2.15 5.25 -10.5 0.00291 . 1.951450 0.02006 N 0.046636 T 0.11965 0.0291 N 0.17872 0.535 0.09310 N 1 B 0.02656 0.0 B 0.08055 0.003 T 0.06844 -1.0804 10 0.21014 T 0.42 0.1765 12.1777 0.54194 0.2598:0.1635:0.5767:0.0 . 63 P16444 DPEP1_HUMAN D 63 ENSP00000397313:G63D;ENSP00000376807:G63D;ENSP00000261615:G63D ENSP00000261615:G63D G + 2 0 DPEP1 88229900 0.000000 0.05858 0.000000 0.03702 0.025000 0.11179 -1.962000 0.01514 -2.473000 0.00528 -2.110000 0.00354 GGC DPEP1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000423058.1 + ENST00000393092.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ SMC4 10051 broad.mit.edu 37 3 160142806 160142806 + Splice_Site SNP A A G TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr3:160142806A>G ENST00000357388.3 + 16.0 2928 c.2477A>G c.(2476-2478)cAg>cGg p.Q826R SMC4_ENST00000462787.1_Splice_Site_p.Q826R|SMC4_ENST00000469762.1_Splice_Site_p.Q801R|SMC4_ENST00000344722.5_Splice_Site_p.Q826R|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Splice_Site_p.Q826R NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 826.0 kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070) condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982) 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) 48.0 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GCAAGCATCCAGgtatgtgtg 0.363 0 53.0 49.0 51.0 3 160142806.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AF092564 CCDS3189.1, CCDS75046.1 3q26.1 2006-07-06 2006-07-06 2006-07-06 ENSG00000113810 ENSG00000113810 10051.0 10051.0 """Structural maintenance of chromosomes proteins""" 14013.0 protein-coding gene gene with protein product 605575.0 """SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)""" SMC4L1 9789013, 10319587 Standard NM_005496 Approved hCAP-C, CAP-C uc003fdh.3 Q9NTJ3 OTTHUMG00000159006 ENST00000357388.3:c.2478+1A>G 3.__UNKNOWN__:g.160142806A>G A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9 __UNKNOWN__ CCDS3189.1 . . . . . . . . . . A 14.03 2.412648 0.42817 . . ENSG00000113810 ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277 T;T;T;T;T 0.74526 -0.85;-0.85;-0.85;-0.85;-0.85 5.18 5.18 0.71444 RecF/RecN/SMC (1); 0.183375 0.49305 D 0.000145 D 0.85327 0.5671 M 0.77616 2.38 0.58432 D 0.999994 P;B;D;B 0.64830 0.529;0.024;0.994;0.063 B;B;D;B 0.76575 0.228;0.035;0.988;0.063 D 0.84567 0.0653 10 0.32370 T 0.25 -13.5001 15.3102 0.74026 1.0:0.0:0.0:0.0 . 826;801;801;826 Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3 .;.;.;SMC4_HUMAN R 826;826;801;826;826;420 ENSP00000349961:Q826R;ENSP00000353225:Q826R;ENSP00000417964:Q801R;ENSP00000420734:Q826R;ENSP00000341382:Q826R ENSP00000341382:Q826R Q + 2 0 SMC4 161625500 1.000000 0.71417 1.000000 0.80357 0.348000 0.29142 5.481000 0.66826 2.071000 0.62044 0.482000 0.46254 CAG SMC4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352862.1 Missense_Mutation + ENST00000357388.3 Splice_Site SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ GAS2L2 246176 broad.mit.edu 37 17 34072885 34072885 + Missense_Mutation SNP T T C TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr17:34072885T>C ENST00000254466.6 - 6.0 1658 c.1631A>G c.(1630-1632)gAc>gGc p.D544G GAS2L2_ENST00000587565.1_Missense_Mutation_p.D528G NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 544.0 cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017) 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) 35.0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCCAGCCAGGTCCACAGTGAC 0.617 0 48.0 47.0 48.0 17 34072885.0 2203.0 4300.0 6503.0 SO:0001583 missense AF508784 CCDS11298.1 17q21 2014-05-06 ENSG00000132139 ENSG00000270765 246176.0 246176.0 24846.0 protein-coding gene gene with protein product 611398.0 12584248 Standard NM_139285 NM_139285 Approved GAR17 uc002hjv.2 Q8NHY3 OTTHUMG00000188386 ENST00000254466.6:c.1631A>G 17.__UNKNOWN__:g.34072885T>C ENSP00000254466:p.Asp544Gly Q8NHY4 __UNKNOWN__ CCDS11298.1 . . . . . . . . . . T 12.01 1.809551 0.31961 . . ENSG00000132139 ENST00000254466 T 0.19105 2.17 5.19 2.87 0.33458 . 0.604000 0.15371 N 0.265876 T 0.13030 0.0316 L 0.27053 0.805 0.09310 N 1 B 0.12630 0.006 B 0.09377 0.004 T 0.25641 -1.0126 10 0.32370 T 0.25 -4.5766 6.4032 0.21650 0.0:0.3139:0.0:0.6861 . 544 Q8NHY3 GA2L2_HUMAN G 544 ENSP00000254466:D544G ENSP00000254466:D544G D - 2 0 GAS2L2 31096998 0.000000 0.05858 0.003000 0.11579 0.060000 0.15804 -0.262000 0.08682 0.409000 0.25649 0.533000 0.62120 GAC GAS2L2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256497.1 - ENST00000254466.6 Missense_Mutation SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ TENM1 10178 broad.mit.edu 37 X 123526098 123526098 + Missense_Mutation SNP T T G TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chrX:123526098T>G ENST00000371130.3 - 27.0 5534 c.5471A>C c.(5470-5472)gAc>gCc p.D1824A TENM1_ENST00000422452.2_Missense_Mutation_p.D1831A|STAG2_ENST00000469481.1_Intron NM_014253.3 NP_055068.2 Q9UKZ4 TEN1_HUMAN teneurin transmembrane protein 1 1824.0 immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803) CCCAGTCTGGTCATAAAGAAT 0.423 0 106.0 96.0 99.0 X 123526098.0 2203.0 4300.0 6503.0 SO:0001583 missense AF100772 CCDS14609.1, CCDS55488.1 Xq25 2012-10-02 2012-10-02 2012-10-02 ENSG00000009694 ENSG00000009694 10178.0 10178.0 8117.0 protein-coding gene gene with protein product 300588.0 """tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)""" ODZ3, TNM, ODZ1 10331952, 10341219 Standard NM_014253 NM_001163278 Approved TEN-M1 uc010nqy.3 Q9UKZ4 OTTHUMG00000022721 ENST00000371130.3:c.5471A>C X.__UNKNOWN__:g.123526098T>G ENSP00000360171:p.Asp1824Ala B2RTR5|Q5JZ17 __UNKNOWN__ CCDS14609.1 . . . . . . . . . . T 21.1 4.094661 0.76870 . . ENSG00000009694 ENST00000371130;ENST00000422452 D;D 0.90261 -2.64;-2.61 5.54 5.54 0.83059 . 0.000000 0.85682 D 0.000000 D 0.95169 0.8434 M 0.81942 2.565 0.80722 D 1 D;D;D 0.89917 0.999;1.0;0.998 D;D;D 0.80764 0.994;0.963;0.958 D 0.95565 0.8633 10 0.66056 D 0.02 . 14.7475 0.69499 0.0:0.0:0.0:1.0 . 1830;1831;1824 B7ZMH4;B2RTR5;Q9UKZ4 .;.;TEN1_HUMAN A 1824;1831 ENSP00000360171:D1824A;ENSP00000403954:D1831A ENSP00000360171:D1824A D - 2 0 ODZ1 123353779 1.000000 0.71417 1.000000 0.80357 0.973000 0.67179 6.289000 0.72696 1.863000 0.54032 0.486000 0.48141 GAC TENM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058985.1 - ENST00000371130.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ MYOM1 8736 broad.mit.edu 37 18 3188963 3188963 + Missense_Mutation SNP G G A TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr18:3188963G>A ENST00000356443.4 - 4.0 887 c.554C>T c.(553-555)aCg>aTg p.T185M MYOM1_ENST00000400569.3_Missense_Mutation_p.T185M|MYOM1_ENST00000261606.7_Missense_Mutation_p.T185M NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 185.0 6 X 6 AA tandem repeats. muscle contraction (GO:0006936) M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863) identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307) 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) 77.0 CTTGGATGCCGTGGACTGTTT 0.507 0 326.0 301.0 309.0 18 3188963.0 2013.0 4186.0 6199.0 SO:0001583 missense AF185573 CCDS45823.1, CCDS45824.1 18p11.31 2014-09-17 2012-10-17 ENSG00000101605 ENSG00000101605 8736.0 8736.0 """Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 7613.0 protein-coding gene gene with protein product """skelemin""" 603508.0 """myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa""" 9806852 Standard NM_003803 NM_019856 Approved uc002klp.3 P52179 OTTHUMG00000178209 ENST00000356443.4:c.554C>T 18.__UNKNOWN__:g.3188963G>A ENSP00000348821:p.Thr185Met Q14BD6|Q6H969|Q6ZUU0 __UNKNOWN__ CCDS45824.1 . . . . . . . . . . G 4.552 0.102493 0.08731 . . ENSG00000101605 ENST00000356443;ENST00000400569;ENST00000261606 T;T;T 0.52057 0.85;0.86;0.68 3.1 1.26 0.21427 . . . . . T 0.24431 0.0592 N 0.08118 0 0.09310 N 1 P;B 0.40660 0.726;0.003 B;B 0.38562 0.276;0.003 T 0.08806 -1.0704 9 0.46703 T 0.11 . 5.3862 0.16220 0.2831:0.0:0.7169:0.0 . 185;185 P52179-2;P52179 .;MYOM1_HUMAN M 185 ENSP00000348821:T185M;ENSP00000383413:T185M;ENSP00000261606:T185M ENSP00000261606:T185M T - 2 0 MYOM1 3178963 0.003000 0.15002 0.020000 0.16555 0.522000 0.34438 0.006000 0.13152 0.080000 0.16959 -0.592000 0.04112 ACG MYOM1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000441037.2 - ENST00000356443.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ COL5A3 50509 broad.mit.edu 37 19 10089840 10089840 + Missense_Mutation SNP G G A TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr19:10089840G>A ENST00000264828.3 - 39.0 2927 c.2842C>T c.(2842-2844)Ctt>Ttt p.L948F NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 948.0 Collagen-like 4.|Triple-helical region. axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588) collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201) 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) 116.0 Epithelial(33;7.11e-05) AGGCCAGGAAGACCTTGTTCA 0.567 0 47.0 47.0 47.0 19 10089840.0 2203.0 4300.0 6503.0 SO:0001583 missense AF177941 CCDS12222.1 19p13.2 2013-01-16 ENSG00000080573 ENSG00000080573 50509.0 50509.0 """Collagens""" 14864.0 protein-coding gene gene with protein product 120216.0 10722718 Standard NM_015719 NM_015719 Approved uc002mmq.1 P25940 OTTHUMG00000150019 ENST00000264828.3:c.2842C>T 19.__UNKNOWN__:g.10089840G>A ENSP00000264828:p.Leu948Phe Q9NZQ6 __UNKNOWN__ CCDS12222.1 . . . . . . . . . . g 12.87 2.067278 0.36470 . . ENSG00000080573 ENST00000264828 D 0.93604 -3.25 3.98 3.98 0.46160 . 0.000000 0.56097 U 0.000030 D 0.95108 0.8415 L 0.56199 1.76 0.41958 D 0.990696 D 0.76494 0.999 D 0.91635 0.999 D 0.94737 0.7915 10 0.44086 T 0.13 . 13.58 0.61896 0.0:0.0:1.0:0.0 . 948 P25940 CO5A3_HUMAN F 948 ENSP00000264828:L948F ENSP00000264828:L948F L - 1 0 COL5A3 9950840 0.997000 0.39634 0.999000 0.59377 0.702000 0.40608 1.508000 0.35769 1.776000 0.52262 0.298000 0.19748 CTT COL5A3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000315788.1 - ENST00000264828.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ LLPH 84298 broad.mit.edu 37 12 66517700 66517700 + Missense_Mutation SNP T T C TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr12:66517700T>C ENST00000266604.2 - 3.0 380 c.310A>G c.(310-312)Agg>Ggg p.R104G LLPH_ENST00000446587.2_Missense_Mutation_p.R104G|TMBIM4_ENST00000539652.1_3'UTR NM_032338.3 NP_115714.1 Q9BRT6 LLPH_HUMAN LLP homolog, long-term synaptic facilitation (Aplysia) 104.0 Lys-rich. poly(A) RNA binding (GO:0044822) central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1) 5.0 GCCTTCAGCCTTTTTCTTTGC 0.408 0 191.0 167.0 175.0 12 66517700.0 2203.0 4300.0 6503.0 SO:0001583 missense AK057947 CCDS8974.1 12q14.3 2014-05-09 2008-10-02 2008-10-02 ENSG00000139233 ENSG00000139233 84298.0 84298.0 28229.0 protein-coding gene gene with protein product """human LAPS18-like protein""" """chromosome 12 open reading frame 31""" C12orf31 12477932 Standard NM_032338 NM_032338 Approved MGC14817, hLLP uc010ssw.2 Q9BRT6 OTTHUMG00000168959 ENST00000266604.2:c.310A>G 12.__UNKNOWN__:g.66517700T>C ENSP00000266604:p.Arg104Gly Q3B766 __UNKNOWN__ CCDS8974.1 . . . . . . . . . . T 15.17 2.754956 0.49362 . . ENSG00000139233 ENST00000266604;ENST00000446587 . . . 4.49 2.01 0.26516 . 0.142496 0.64402 D 0.000008 T 0.48926 0.1527 M 0.68593 2.085 0.28223 N 0.92644 B 0.20887 0.049 B 0.27887 0.084 T 0.43909 -0.9362 8 . . . -13.6114 10.5959 0.45338 0.0:0.0:0.3087:0.6913 . 104 Q9BRT6 LLPH_HUMAN G 104 . . R - 1 2 LLPH 64803967 1.000000 0.71417 0.999000 0.59377 0.981000 0.71138 4.237000 0.58681 0.306000 0.22856 0.528000 0.53228 AGG LLPH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401752.1 - ENST00000266604.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ HSPG2 3339 broad.mit.edu 37 1 22199255 22199255 + Splice_Site DEL T T - TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr1:22199255delT ENST00000374695.3 - 32.0 3968 c.e32-2 NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) 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) 127.0 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) Palifermin(DB00039) CACCTGGGCCTGGGTAGACGG 0.682 0 28.0 34.0 32.0 1 22199255.0 2202.0 4298.0 6500.0 SO:0001630 splice_region_variant M85289 CCDS30625.1 1p36.1-p35 2013-01-29 2007-02-16 2007-02-16 ENSG00000142798 ENSG00000142798 3339.0 3339.0 """Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 5273.0 protein-coding gene gene with protein product """perlecan proteoglycan""" 142461.0 """Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)""" SJS1 1685141, 11941538 Standard NM_005529 XM_005245863 Approved perlecan, PRCAN uc001bfj.3 P98160 OTTHUMG00000002674 ENST00000374695.3:c.3889-2A>- 1.__UNKNOWN__:g.22199255delT Q16287|Q5SZI3|Q9H3V5 __UNKNOWN__ CCDS30625.1 HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007598.1 Intron - ENST00000374695.3 Splice_Site DEL PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ ALG2 85365 ucsc.edu 37 9 101981108 101981108 + Missense_Mutation SNP C C A TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr9:101981108C>A ENST00000476832.1 - 2.0 420 c.359G>T c.(358-360)tGt>tTt p.C120F ALG2_ENST00000319033.6_Missense_Mutation_p.C27F NM_033087.3 NP_149078.1 O75340 PDCD6_HUMAN ALG2, alpha-1,3/1,6-mannosyltransferase 0.0 EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}. activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634) binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983) breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2) 22.0 Acute lymphoblastic leukemia(62;0.0559) CACTGGGATACAGGCAGACAC 0.468 0 49.0 52.0 51.0 9 101981108.0 2203.0 4300.0 6503.0 SO:0001583 missense AK027417 CCDS6739.1 9q31.1 2013-02-22 2013-02-22 ENSG00000119523 ENSG00000119523 85365.0 85365.0 2.4.1.132, 2.4.1.257 """Glycosyltransferase group 1 domain containing""" 23159.0 protein-coding gene gene with protein product 607905 """asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)""" 12684507 Standard NM_033087 NR_024532 Approved CDGIi, FLJ14511, hALPG2, NET38 uc004azf.3 Q9H553 OTTHUMG00000020355 ENST00000476832.1:c.359G>T 9.__UNKNOWN__:g.101981108C>A ENSP00000417764:p.Cys120Phe B2RD16|E7ESR3|Q2YDC2|Q5TZS0 __UNKNOWN__ CCDS6739.1 . . . . . . . . . . C 21.0 4.079918 0.76528 . . ENSG00000119523 ENST00000476832;ENST00000319033 D;D 0.92805 -3.11;-3.11 5.41 5.41 0.78517 . 0.000000 0.85682 D 0.000000 D 0.97059 0.9039 M 0.93678 3.445 0.80722 D 1 D;D 0.65815 0.995;0.985 D;D 0.64776 0.929;0.921 D 0.97786 1.0235 10 0.72032 D 0.01 -10.4796 19.1897 0.93660 0.0:1.0:0.0:0.0 . 27;120 Q9H553-2;Q9H553 .;ALG2_HUMAN F 120;27 ENSP00000417764:C120F;ENSP00000326609:C27F ENSP00000432675:C27F C - 2 0 ALG2 101020929 1.000000 0.71417 1.000000 0.80357 0.968000 0.65278 7.487000 0.81328 2.535000 0.85469 0.655000 0.94253 TGT ALG2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000215080.1 - ENST00000476832.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ DAB1 1600 ucsc.edu 37 1 57480748 57480748 + Missense_Mutation SNP A A G TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr1:57480748A>G ENST00000371236.2 - 12.0 1515 c.1252T>C c.(1252-1254)Ttc>Ctc p.F418L DAB1_ENST00000439789.2_Missense_Mutation_p.F332L|DAB1_ENST00000371231.1_Missense_Mutation_p.F451L|DAB1_ENST00000414851.2_Missense_Mutation_p.F400L|DAB1_ENST00000420954.2_Missense_Mutation_p.F416L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.F418L O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 451.0 adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517) apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069) 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) 64.0 GCCATCTGGAAATCCTTAAAC 0.597 0 77.0 78.0 77.0 1 57480748.0 2203.0 4300.0 6503.0 SO:0001583 missense BC067445 CCDS607.1 1p32-p31 2013-10-03 2013-10-03 ENSG00000173406 ENSG00000173406 1600.0 1600.0 2661.0 protein-coding gene gene with protein product 603448 """disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1""" 9790777 Standard NM_021080 NM_021080 Approved uc001cys.1 O75553 OTTHUMG00000008391 ENST00000371236.2:c.1252T>C 1.__UNKNOWN__:g.57480748A>G ENSP00000360280:p.Phe418Leu A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8 __UNKNOWN__ CCDS607.1 . . . . . . . . . . A 19.85 3.903169 0.72754 . . ENSG00000173406 ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231 T;T;T;T;T;T 0.56776 0.48;0.48;0.54;0.44;1.54;0.58 5.37 5.37 0.77165 . 0.044128 0.85682 D 0.000000 T 0.64450 0.2599 L 0.51422 1.61 0.58432 D 0.999991 P;D;D;B;D 0.67145 0.532;0.986;0.981;0.039;0.996 B;P;P;B;P 0.60949 0.264;0.764;0.798;0.062;0.881 T 0.66854 -0.5818 10 0.62326 D 0.03 -36.8585 15.5451 0.76093 1.0:0.0:0.0:0.0 . 400;451;418;332;416 O75553-4;O75553;O75553-6;O75553-3;O75553-5 .;DAB1_HUMAN;.;.;. L 418;418;418;416;400;332;451 ENSP00000360280:F418L;ENSP00000360278:F418L;ENSP00000395296:F416L;ENSP00000387581:F400L;ENSP00000409328:F332L;ENSP00000360275:F451L ENSP00000360275:F451L F - 1 0 DAB1 57253336 1.000000 0.71417 1.000000 0.80357 0.939000 0.58152 6.803000 0.75180 2.266000 0.75297 0.528000 0.53228 TTC DAB1-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000027814.2 - ENST00000371236.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ VWA2 340706 ucsc.edu 37 10 116049157 116049157 + Silent SNP G G A TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr10:116049157G>A ENST00000392982.3 + 12.0 2281 c.2031G>A c.(2029-2031)agG>agA p.R677R VWA2_ENST00000603594.1_Silent_p.R677R Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 677.0 VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}. calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626) basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) identical protein binding (GO:0042802) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26.0 Epithelial(162;0.036)|all cancers(201;0.0793) GTCTGCGGAGGCTTGCAGGTC 0.627 0 152.0 114.0 127.0 10 116049157.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK127756 CCDS7589.1, CCDS7589.2 10q25.3 2009-11-06 ENSG00000165816 ENSG00000165816 340706.0 340706.0 24709.0 protein-coding gene gene with protein product 15580307, 14506275 Standard NM_198496 NM_001272046 Approved FLJ45857, FLJ16213, CCSP-2, AMACO, NET42 uc001lbl.2 Q5GFL6 OTTHUMG00000019082 ENST00000392982.3:c.2031G>A 10.__UNKNOWN__:g.116049157G>A A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8 __UNKNOWN__ VWA2-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000050456.3 + ENST00000392982.3 Silent SNP PCPG-TCGA-QR-A6GX-Normal-SM-5EQGQ TJAP1 93643 broad.mit.edu 37 6 43473147 43473147 + Missense_Mutation SNP C C A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr6:43473147C>A ENST00000259751.1 + 10.0 1576 c.1198C>A c.(1198-1200)Ctg>Atg p.L400M TJAP1_ENST00000372449.1_Missense_Mutation_p.L410M|TJAP1_ENST00000438588.2_Missense_Mutation_p.L410M|TJAP1_ENST00000372452.1_Missense_Mutation_p.L400M|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372445.5_Missense_Mutation_p.L410M|TJAP1_ENST00000372444.2_Missense_Mutation_p.L400M|TJAP1_ENST00000436109.2_Missense_Mutation_p.L400M NM_080604.2 NP_542171.2 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 (peripheral) 410.0 Golgi organization (GO:0007030) endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802) cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2) 21.0 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TGAAGAGGACCTGCTGGTCAG 0.662 0 39.0 40.0 40.0 6 43473147.0 2203.0 4300.0 6503.0 SO:0001583 missense AK024269 CCDS4898.1, CCDS55004.1 6p21.1 2008-02-05 2005-07-05 2005-07-05 ENSG00000137221 ENSG00000137221 93643.0 93643.0 17949.0 protein-coding gene gene with protein product 612658.0 """tight junction protein 4 (peripheral)""" TJP4 11602598 Standard NM_080604 NM_001146016 Approved PILT uc011dvh.1 Q5JTD0 OTTHUMG00000014736 ENST00000259751.1:c.1198C>A 6.__UNKNOWN__:g.43473147C>A ENSP00000259751:p.Leu400Met Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7 __UNKNOWN__ CCDS4898.1 . . . . . . . . . . C 15.01 2.707705 0.48412 . . ENSG00000137221 ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588 . . . 5.56 3.77 0.43336 . 0.130764 0.52532 D 0.000071 T 0.18045 0.0433 L 0.28740 0.885 0.46609 D 0.999128 P;P 0.47545 0.897;0.897 B;B 0.41860 0.368;0.368 T 0.03278 -1.1053 9 0.36615 T 0.2 -28.2924 5.6634 0.17682 0.1371:0.6492:0.0:0.2137 . 410;400 Q5JTD0;Q5JTD0-2 TJAP1_HUMAN;. M 400;410;400;400;400;400;410;410 . ENSP00000259751:L400M L + 1 2 TJAP1 43581125 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 1.042000 0.30303 1.341000 0.45600 0.655000 0.94253 CTG TJAP1-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040626.1 + ENST00000259751.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 IGHV1-45 0 broad.mit.edu 37 14 106963045 106963045 + RNA SNP G G A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr14:106963045G>A ENST00000390621.2 - 0.0 294 immunoglobulin heavy variable 1-45 ATTTCTGTGCGTAGTTGGTGT 0.547 3.0 0.0014 0.0041 0.0028 2184.0 0.9997 , , 0.0016 0.0015 0.9122 LOWCOV 0.0003 SNP 0 G 4,4094 0,4,2045 184.0 184.0 184.0 -2.9 0.0 14 184.0 1,8393 0,1,4196 no intergenic 0,5,6241 AA,AG,GG 0.0119,0.0976,0.04 106963045.0 5,12487 2049.0 4197.0 6246.0 X92209 14q32.33 2012-02-08 ENSG00000211961 ENSG00000211961 28466.0 28466.0 """Immunoglobulins / IGH locus""" 5553.0 other immunoglobulin gene Standard NG_001019 NG_001019 Approved OTTHUMG00000152075 ENST00000390621.2: 14.__UNKNOWN__:g.106963045G>A __UNKNOWN__ IGHV1-45-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene IG_V_gene OTTHUMT00000325169.1 - ENST00000390621.2 RNA SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 SLC5A1 6523 broad.mit.edu 37 22 32480635 32480635 + Missense_Mutation SNP T T A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr22:32480635T>A ENST00000266088.4 + 8.0 1124 c.874T>A c.(874-876)Tgc>Agc p.C292S SLC5A1_ENST00000543737.1_Missense_Mutation_p.C165S NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 292.0 carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glucose:sodium symporter activity (GO:0005412) NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37.0 Canagliflozin(DB08907) GTGGTACTGGTGCACAGATCA 0.567 0 76.0 74.0 75.0 22 32480635.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS13902.1, CCDS58805.1 22q12.3 2013-05-22 ENSG00000100170 ENSG00000100170 6523.0 6523.0 """Solute carriers""" 11036.0 protein-coding gene gene with protein product """sodium/glucose cotransporter 1""" 182380.0 SGLT1 8195156 Standard NM_000343 NM_000343 Approved D22S675, NAGT uc003amc.3 P13866 OTTHUMG00000030768 ENST00000266088.4:c.874T>A 22.__UNKNOWN__:g.32480635T>A ENSP00000266088:p.Cys292Ser B2R7E2|B7Z4Q9|B7ZA69 __UNKNOWN__ CCDS13902.1 . . . . . . . . . . T 22.5 4.297952 0.81025 . . ENSG00000100170 ENST00000266088;ENST00000543737 D;D 0.90069 -2.26;-2.61 4.92 4.92 0.64577 . 0.000000 0.85682 D 0.000000 D 0.94476 0.8222 M 0.89534 3.04 0.80722 D 1 D 0.55605 0.972 P 0.60415 0.874 D 0.95480 0.8559 10 0.87932 D 0 . 14.0254 0.64582 0.0:0.0:0.0:1.0 . 292 P13866 SC5A1_HUMAN S 292;165 ENSP00000266088:C292S;ENSP00000444898:C165S ENSP00000266088:C292S C + 1 0 SLC5A1 30810635 1.000000 0.71417 1.000000 0.80357 0.863000 0.49368 7.814000 0.86154 1.968000 0.57251 0.402000 0.26972 TGC SLC5A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000075656.3 + ENST00000266088.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 ATP8A1 10396 broad.mit.edu 37 4 42629113 42629113 + Silent SNP T T A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr4:42629113T>A ENST00000381668.5 - 2.0 294 c.63A>T c.(61-63)acA>acT p.T21T ATP8A1_ENST00000264449.10_Silent_p.T21T|ATP8A1_ENST00000510289.1_Silent_p.T21T NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 21.0 cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085) cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51.0 Phosphatidylserine(DB00144) AAACATCATCTGTCTTCTCAT 0.368 0 103.0 99.0 100.0 4 42629113.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF067820 CCDS3466.1, CCDS47049.1 4p13 2010-04-20 2007-09-19 ENSG00000124406 ENSG00000124406 10396.0 10396.0 """ATPases / P-type""" 13531.0 protein-coding gene gene with protein product 609542.0 """ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1""" 10198212, 9548971 Standard NM_006095 NM_006095 Approved ATPIA uc003gwr.2 Q9Y2Q0 OTTHUMG00000099403 ENST00000381668.5:c.63A>T 4.__UNKNOWN__:g.42629113T>A Q32M35|Q32M36|Q4W5J7|Q4W5P2 __UNKNOWN__ CCDS3466.1 ATP8A1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000216861.2 - ENST00000381668.5 Silent SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 CYP2B6 1555 broad.mit.edu 37 19 41516036 41516036 + Silent SNP T T C TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr19:41516036T>C ENST00000324071.4 + 6.0 967 c.960T>C c.(958-960)gtT>gtC p.V320V CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 320.0 cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789) heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|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 (GO:0016712) NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28.0 LUSC - Lung squamous cell carcinoma(20;0.00322) Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661) ACCCTCATGTTGCAGGTGGGC 0.572 0 77.0 61.0 66.0 19 41516036.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF182277 CCDS12570.1 19q13.2 2013-07-25 2003-01-14 ENSG00000197408 ENSG00000197408 1555.0 1555.0 """Cytochrome P450s""" 2615.0 protein-coding gene gene with protein product 123930.0 """cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)""" CYP2B 7668294, 15128046 Standard NM_000767 NM_000767 Approved CPB6, CYPIIB6 uc002opr.1 P20813 OTTHUMG00000182714 ENST00000324071.4:c.960T>C 19.__UNKNOWN__:g.41516036T>C B4DWP3|Q2V565|Q9UK46 __UNKNOWN__ CCDS12570.1 CYP2B6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463260.1 + ENST00000324071.4 Silent SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 ENOX2 10495 broad.mit.edu 37 X 129803980 129803980 + Missense_Mutation SNP T T G TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chrX:129803980T>G ENST00000370935.1 - 6.0 924 c.653A>C c.(652-654)tAt>tCt p.Y218S ENOX2_ENST00000338144.3_Missense_Mutation_p.Y247S|ENOX2_ENST00000370927.1_Missense_Mutation_p.Y247S|ENOX2_ENST00000394363.1_Missense_Mutation_p.Y218S NM_001281736.1 NP_001268665.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 247.0 cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624) cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576) nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33.0 ATGATCTGAATAGTGGACCAC 0.428 Ovarian(101;828 1506 2951 9500 35258) 0 175.0 139.0 151.0 X 129803980.0 2203.0 4300.0 6503.0 SO:0001583 missense AF207881 CCDS14626.1, CCDS14627.1 Xq25 2013-02-12 2007-03-23 2007-03-23 ENSG00000165675 ENSG00000165675 10495.0 10495.0 """RNA binding motif (RRM) containing""" 2259.0 protein-coding gene gene with protein product 300282.0 """cytosolic ovarian carcinoma antigen 1""" COVA1 8150545, 11888291 Standard NM_182314 NM_006375 Approved APK1, tNOX uc004evw.3 Q16206 OTTHUMG00000022401 ENST00000370935.1:c.653A>C X.__UNKNOWN__:g.129803980T>G ENSP00000359973:p.Tyr218Ser A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82 __UNKNOWN__ CCDS14627.1 . . . . . . . . . . T 20.8 4.051679 0.75960 . . ENSG00000165675 ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489 . . . 5.31 5.31 0.75309 . 0.000000 0.85682 D 0.000000 T 0.47097 0.1427 L 0.46741 1.465 0.58432 D 0.999997 P;P 0.45212 0.853;0.853 B;B 0.42112 0.376;0.376 T 0.43861 -0.9365 8 . . . -12.7953 12.0185 0.53329 0.0:0.0:0.0:1.0 . 247;275 Q16206;A4QPE1 ENOX2_HUMAN;. S 218;218;247;218;275;247;218 . . Y - 2 0 ENOX2 129631661 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.622000 0.67750 1.968000 0.57251 0.486000 0.48141 TAT ENOX2-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058276.1 - ENST00000370935.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 CORO7 79585 broad.mit.edu 37 16 4412682 4412682 + Missense_Mutation SNP C C A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr16:4412682C>A ENST00000251166.4 - 15.0 1478 c.1333G>T c.(1333-1335)Ggg>Tgg p.G445W CORO7_ENST00000539968.1_Missense_Mutation_p.G225W|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.G445W|CORO7_ENST00000574025.1_Missense_Mutation_p.G360W|CORO7_ENST00000423908.2_Missense_Mutation_p.G277W|CORO7_ENST00000537233.2_Missense_Mutation_p.G427W NM_024535.4 NP_078811.3 P57737 CORO7_HUMAN coronin 7 445.0 actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031) cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802) actin binding (GO:0003779) breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23.0 AGTGAGGGCCCCAGGCTGGAG 0.667 0 41.0 39.0 40.0 16 4412682.0 2195.0 4297.0 6492.0 SO:0001583 missense AK097238 CCDS10513.1, CCDS55982.1, CCDS58417.1 16p13.3 2013-01-10 ENSG00000262246 ENSG00000262246 79585.0 79585.0 """Coronins"", ""WD repeat domain containing""" 26161.0 protein-coding gene gene with protein product 611668.0 15327992 Standard NM_024535 NM_024535 Approved FLJ22021 P57737 OTTHUMG00000129465 ENST00000251166.4:c.1333G>T 16.__UNKNOWN__:g.4412682C>A ENSP00000251166:p.Gly445Trp B4DFD6|B4DL18|I3L416|Q17RK4 __UNKNOWN__ CCDS10513.1 . . . . . . . . . . C 23.6 4.435263 0.83885 . . ENSG00000103426 ENST00000251166;ENST00000537233;ENST00000539968;ENST00000423908 T;T;T 0.63417 -0.04;-0.04;-0.04 4.95 4.95 0.65309 . 1.658450 0.04002 U 0.296622 T 0.79879 0.4522 L 0.60455 1.87 0.41715 D 0.989479 D;D;D;D;D;D 0.71674 0.997;0.998;0.992;0.99;0.998;0.99 D;D;P;P;D;P 0.71656 0.944;0.971;0.817;0.869;0.974;0.763 T 0.65216 -0.6222 10 0.72032 D 0.01 -27.0525 15.9524 0.79850 0.0:1.0:0.0:0.0 . 360;427;225;225;445;426 P57737-2;B4DFD6;B3KSY4;B3KUH7;P57737;B4DKU9 .;.;.;.;CORO7_HUMAN;. W 445;360;225;277 ENSP00000251166:G445W;ENSP00000446221:G225W;ENSP00000391530:G277W ENSP00000251166:G445W G - 1 0 CORO7 4352683 0.816000 0.29132 1.000000 0.80357 0.939000 0.58152 0.508000 0.22692 2.275000 0.75901 0.555000 0.69702 GGG CORO7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251628.2 - ENST00000251166.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 AQP7 364 broad.mit.edu 37 9 33395149 33395149 + Missense_Mutation SNP T T C TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr9:33395149T>C ENST00000539936.1 - 3.0 309 c.71A>G c.(70-72)aAg>aGg p.K24R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000537089.1_5'UTR O14520 AQP7_HUMAN aquaporin 7 24.0 excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glycerol channel activity (GO:0015254)|water channel activity (GO:0015250) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17.0 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) TTCCTGGATCTTTGCTATCAC 0.557 0 93.0 63.0 73.0 9 33395149.0 2203.0 4300.0 6503.0 SO:0001583 missense AB006190 CCDS6541.1 9p13 2008-02-05 ENSG00000165269 ENSG00000165269 364.0 364.0 """Ion channels / Aquaporins""" 640.0 protein-coding gene gene with protein product 602974.0 AQP7L 9252401 Standard NM_001170 NM_001170 Approved AQP9, AQPap uc003zst.3 O14520 OTTHUMG00000019773 ENST00000539936.1:c.71A>G 9.__UNKNOWN__:g.33395149T>C ENSP00000439534:p.Lys24Arg Q08E94|Q5T5L9|Q8NHM3 __UNKNOWN__ . . . . . . . . . . T 0.632 -0.816852 0.02776 . . ENSG00000165269 ENST00000379507;ENST00000297988;ENST00000379506;ENST00000539936 D;D;D;D 0.85556 -2.0;-1.99;-1.87;-1.86 3.36 -3.97 0.04094 . . . . . T 0.59945 0.2231 N 0.05259 -0.085 0.09310 N 0.999999 B;B;B 0.06786 0.0;0.0;0.001 B;B;B 0.06405 0.002;0.001;0.001 T 0.52749 -0.8534 9 0.07482 T 0.82 -0.3787 4.4545 0.11637 0.0:0.2658:0.3164:0.4178 . 23;24;24 Q5T5M0;B7Z4U2;O14520 .;.;AQP7_HUMAN R 23;24;23;24 ENSP00000368821:K23R;ENSP00000297988:K24R;ENSP00000368820:K23R;ENSP00000439534:K24R ENSP00000297988:K24R K - 2 0 AQP7 33385149 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.903000 0.04084 -0.803000 0.04415 -1.622000 0.00790 AAG AQP7-203 KNOWN basic protein_coding protein_coding - ENST00000539936.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 ANO3 63982 broad.mit.edu 37 11 26529704 26529704 + Missense_Mutation SNP G G C TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr11:26529704G>C ENST00000256737.3 + 5.0 1338 c.486G>C c.(484-486)aaG>aaC p.K162N ANO3_ENST00000525139.1_Missense_Mutation_p.K146N|ANO3_ENST00000531646.1_Missense_Mutation_p.K162N|ANO3_ENST00000531568.1_Missense_Mutation_p.K16N|ANO3_ENST00000537978.1_Missense_Mutation_p.K146N NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 162.0 K -> R (in Ref. 1; CAC32454). {ECO:0000305}. calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) phospholipid scramblase activity (GO:0017128) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68.0 ATGGCAAAAAGAGAATTGATT 0.348 0 82.0 78.0 79.0 11 26529704.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ300461 CCDS31447.1 11p14.2 2014-04-09 2008-08-28 2008-08-28 ENSG00000134343 ENSG00000134343 63982.0 63982.0 """Ion channels / Chloride channels : Calcium activated : Anoctamins""" 14004.0 protein-coding gene gene with protein product """transmembrane protein 16C (eight membrane-spanning domains)""" 610110.0 """chromosome 11 open reading frame 25"", ""transmembrane protein 16C""" C11orf25, TMEM16C 12739008, 15067359, 23200863, 24692353 Standard NM_031418 NM_031418 Approved GENX-3947, DYT23 uc001mqt.4 Q9BYT9 OTTHUMG00000166096 ENST00000256737.3:c.486G>C 11.__UNKNOWN__:g.26529704G>C ENSP00000256737:p.Lys162Asn B7Z3F5 __UNKNOWN__ CCDS31447.1 . . . . . . . . . . G 16.99 3.274703 0.59649 . . ENSG00000134343 ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646;ENST00000538001;ENST00000531568 T;T;T;T;T 0.66815 -0.23;-0.23;-0.23;-0.13;-0.23 5.58 -0.775 0.10988 . 0.000000 0.85682 D 0.000000 T 0.63768 0.2539 M 0.61703 1.905 0.54753 D 0.999983 P;P 0.43885 0.82;0.82 B;P 0.45071 0.392;0.468 T 0.63892 -0.6534 10 0.87932 D 0 . 10.4056 0.44254 0.4062:0.0:0.5938:0.0 . 79;162 B7Z7Y6;Q9BYT9 .;ANO3_HUMAN N 146;146;162;162;79;16 ENSP00000440737:K146N;ENSP00000432576:K146N;ENSP00000256737:K162N;ENSP00000435275:K162N;ENSP00000432394:K16N ENSP00000256737:K162N K + 3 2 ANO3 26486280 1.000000 0.71417 0.840000 0.33206 0.973000 0.67179 1.495000 0.35627 -0.320000 0.08640 -0.224000 0.12420 AAG ANO3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000387806.1 + ENST00000256737.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 SLC26A2 1836 broad.mit.edu 37 5 149360408 149360408 + Missense_Mutation SNP A A G TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr5:149360408A>G ENST00000286298.4 + 3.0 1520 c.1252A>G c.(1252-1254)Atg>Gtg p.M418V NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 418.0 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18.0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AAACCAGGAAATGTATGCCAT 0.388 0 A VAL/MET 0,4406 0,0,2203 92.0 86.0 88.0 1252 5.7 1.0 5 88.0 1,8599 1.2+/-3.3 0,1,4299 no missense SLC26A2 NM_000112.3 21 0,1,6502 GG,GA,AA 0.0116,0.0,0.0077 possibly-damaging 418/740 149360408.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense U14528 CCDS4300.1 5q31-q34 2014-09-17 2013-07-18 ENSG00000155850 ENSG00000155850 1836.0 1836.0 """Solute carriers""" 10994.0 protein-coding gene gene with protein product 606718.0 """solute carrier family 26 (sulfate transporter), member 2""" DTD 7923357 Standard NM_000112 NM_000112 Approved DTDST uc003lrh.3 P50443 OTTHUMG00000130054 ENST00000286298.4:c.1252A>G 5.__UNKNOWN__:g.149360408A>G ENSP00000286298:p.Met418Val A8K2U3|B2R6J1|Q6N051 __UNKNOWN__ CCDS4300.1 . . . . . . . . . . A 17.13 3.311215 0.60414 0.0 1.16E-4 ENSG00000155850 ENST00000286298 D 0.93189 -3.18 5.71 5.71 0.89125 Sulphate transporter (1); 0.036541 0.85682 D 0.000000 D 0.96592 0.8888 M 0.82323 2.585 0.50039 D 0.99984 D 0.56035 0.974 D 0.64877 0.93 D 0.97152 0.9832 10 0.87932 D 0 . 15.9869 0.80160 1.0:0.0:0.0:0.0 . 418 P50443 S26A2_HUMAN V 418 ENSP00000286298:M418V ENSP00000286298:M418V M + 1 0 SLC26A2 149340601 1.000000 0.71417 1.000000 0.80357 0.877000 0.50540 9.281000 0.95811 2.171000 0.68590 0.533000 0.62120 ATG SLC26A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252333.2 + ENST00000286298.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 CDH5 1003 broad.mit.edu 37 16 66437025 66437025 + Silent SNP C C T TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr16:66437025C>T ENST00000539168.1 + 6.0 1459 c.625C>T c.(625-627)Ctg>Ttg p.L209L CDH5_ENST00000341529.3_Silent_p.L770L P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 770.0 Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}. adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114) cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923) beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102) central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54.0 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) Lenalidomide(DB00480) GTTTAAGATGCTGGCTGAGCT 0.632 0 50.0 47.0 48.0 16 66437025.0 2201.0 4300.0 6501.0 SO:0001819 synonymous_variant X79981 CCDS10804.1 16q22.1 2010-01-26 2008-07-25 ENSG00000179776 ENSG00000179776 1003.0 1003.0 """CD molecules"", ""Cadherins / Major cadherins""" 1764.0 protein-coding gene gene with protein product """VE-cadherin""" 601120.0 """cadherin 5, type 2, VE-cadherin (vascular epithelium)""" 2059658 Standard NM_001795 NM_001795 Approved 7B4, CD144 uc002eom.4 P33151 OTTHUMG00000137495 ENST00000539168.1:c.625C>T 16.__UNKNOWN__:g.66437025C>T Q4VAI5|Q4VAI6 __UNKNOWN__ CDH5-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000421001.2 + ENST00000539168.1 Silent SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 FLG 2312 broad.mit.edu 37 1 152279816 152279816 + Missense_Mutation SNP G G C TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr1:152279816G>C ENST00000368799.1 - 3.0 7581 c.7546C>G c.(7546-7548)Caa>Gaa p.Q2516E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2516.0 Ser-rich. establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275) cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198) 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) 424.0 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTACGAGTTTGTCTGCTTGCA 0.567 Ichthyosis 0 362.0 339.0 347.0 1 152279816.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris XM_048104 CCDS30860.1 1q21.3 2013-01-10 ENSG00000143631 ENSG00000143631 2312.0 2312.0 """EF-hand domain containing""" 3748.0 protein-coding gene gene with protein product 135940.0 2740331, 2248957, 16444271 Standard NM_002016 NM_002016 Approved uc001ezu.1 P20930 OTTHUMG00000012202 ENST00000368799.1:c.7546C>G 1.__UNKNOWN__:g.152279816G>C ENSP00000357789:p.Gln2516Glu Q01720|Q5T583|Q9UC71 __UNKNOWN__ CCDS30860.1 . . . . . . . . . . G 2.515 -0.311990 0.05422 . . ENSG00000143631 ENST00000368799 T 0.03663 3.85 1.78 1.78 0.24846 . . . . . T 0.00666 0.0022 L 0.35793 1.09 0.09310 N 1 P 0.36222 0.544 B 0.26094 0.066 T 0.38478 -0.9659 9 0.02654 T 1 . 6.9979 0.24793 0.0:0.0:1.0:0.0 . 2516 P20930 FILA_HUMAN E 2516 ENSP00000357789:Q2516E ENSP00000357789:Q2516E Q - 1 0 FLG 150546440 0.000000 0.05858 0.006000 0.13384 0.019000 0.09904 -0.103000 0.10940 0.993000 0.38866 0.306000 0.20318 CAA FLG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033742.1 - ENST00000368799.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 LPAR4 2846 broad.mit.edu 37 X 78010713 78010713 + Missense_Mutation SNP C C T TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chrX:78010713C>T ENST00000435339.3 + 2.0 733 c.347C>T c.(346-348)aCt>aTt p.T116I NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 116.0 G-protein coupled receptor signaling pathway (GO:0007186) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289) breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38.0 ATCTCTGGAACTGCATTCCTT 0.423 0 185.0 149.0 161.0 X 78010713.0 2203.0 4299.0 6502.0 SO:0001583 missense U90322 CCDS14441.1 Xq21.1 2012-08-08 2008-04-11 2008-04-11 ENSG00000147145 ENSG00000147145 2846.0 2846.0 """GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid""" 4478.0 protein-coding gene gene with protein product 300086.0 """G protein-coupled receptor 23""" GPR23 Standard NM_005296 NM_005296 Approved P2Y9, P2Y5-LIKE, P2RY9, LPA4 uc010nme.3 Q99677 OTTHUMG00000021895 ENST00000435339.3:c.347C>T X.__UNKNOWN__:g.78010713C>T ENSP00000408205:p.Thr116Ile B2RAC7|O15132|Q502U9|Q6NSP5 __UNKNOWN__ CCDS14441.1 . . . . . . . . . . C 14.15 2.450361 0.43531 . . ENSG00000147145 ENST00000435339;ENST00000373301 T;T 0.36878 1.23;1.23 4.21 4.21 0.49690 GPCR, rhodopsin-like superfamily (1); 0.139718 0.47852 D 0.000201 T 0.39835 0.1093 L 0.47716 1.5 0.43347 D 0.995406 P 0.44281 0.831 P 0.48425 0.577 T 0.12142 -1.0559 10 0.25106 T 0.35 . 14.3969 0.67018 0.0:1.0:0.0:0.0 . 116 Q99677 LPAR4_HUMAN I 116 ENSP00000408205:T116I;ENSP00000362398:T116I ENSP00000362398:T116I T + 2 0 LPAR4 77897369 1.000000 0.71417 1.000000 0.80357 0.942000 0.58702 5.355000 0.66046 1.943000 0.56356 0.422000 0.28245 ACT LPAR4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057322.2 + ENST00000435339.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 AP4E1 23431 broad.mit.edu 37 15 51285806 51285806 + Missense_Mutation SNP A A G TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr15:51285806A>G ENST00000261842.5 + 17.0 2436 c.2330A>G c.(2329-2331)gAa>gGa p.E777G AP4E1_ENST00000560508.1_Missense_Mutation_p.E702G NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 777.0 intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117) breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27.0 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) CTAGGATCAGAAAGTACAATC 0.378 0 115.0 111.0 112.0 15 51285806.0 2196.0 4294.0 6490.0 SO:0001583 missense AB030653 CCDS32240.1, CCDS58362.1 15q21.2 2014-09-17 ENSG00000081014 ENSG00000081014 23431.0 23431.0 573.0 protein-coding gene gene with protein product 607244.0 10436028, 21620353 Standard NM_007347 Approved AP-4-EPSILON, SPG51 uc001zyx.2 Q9UPM8 OTTHUMG00000172458 ENST00000261842.5:c.2330A>G 15.__UNKNOWN__:g.51285806A>G ENSP00000261842:p.Glu777Gly A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588 __UNKNOWN__ CCDS32240.1 . . . . . . . . . . A 11.09 1.536178 0.27475 . . ENSG00000081014 ENST00000261842 T 0.19250 2.16 5.28 5.28 0.74379 . 0.366441 0.31082 N 0.008285 T 0.13157 0.0319 N 0.19112 0.55 0.30140 N 0.804032 B 0.26318 0.146 B 0.24974 0.057 T 0.09015 -1.0694 10 0.33940 T 0.23 -11.4487 9.1287 0.36833 0.9148:0.0:0.0852:0.0 . 777 Q9UPM8 AP4E1_HUMAN G 777 ENSP00000261842:E777G ENSP00000261842:E777G E + 2 0 AP4E1 49073098 1.000000 0.71417 0.999000 0.59377 0.598000 0.36846 3.433000 0.52834 1.984000 0.57885 0.455000 0.32223 GAA AP4E1-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000418656.1 + ENST00000261842.5 Missense_Mutation SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 AK9 221264 broad.mit.edu 37 6 109818700 109818700 + Silent SNP A A G TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr6:109818700A>G ENST00000424296.2 - 38.0 5359 c.5283T>C c.(5281-5283)tgT>tgC p.C1761C RP5-919F19.5_ENST00000423747.2_RNA NM_001145128.2 NP_001138600.2 Q5TCS8 KAD9_HUMAN adenylate kinase 9 1761.0 ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569) cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145) CTTTGTTCTCACAAATATATA 0.338 0 45.0 49.0 47.0 6 109818700.0 2201.0 4300.0 6501.0 SO:0001819 synonymous_variant AK131244, BC146443, BC087860 CCDS5077.1, CCDS55048.1 6q21 2013-04-29 2013-04-29 2013-04-29 221264.0 221264.0 2.7.4.3 33814.0 protein-coding gene gene with protein product 615358.0 """chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1""" C6orf224, AKD2, C6orf199, AKD1 23416111 Standard NM_001145128 NM_145025 Approved FLJ42177, FLJ25791, dJ70A9.1, MGC26954 Q5TCS8 ENST00000424296.2:c.5283T>C 6.__UNKNOWN__:g.109818700A>G A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4 __UNKNOWN__ CCDS55048.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 5.857|5.857 0.342399|0.342399 0.11069|0.11069 .|. .|. ENSG00000155085|ENSG00000155085 ENST00000470564|ENST00000490722 .|. .|. .|. 5.05|5.05 5.05|5.05 0.67936|0.67936 .|. .|. .|. .|. .|. T|. 0.45175|. 0.1329|. .|. .|. .|. 0.80722|0.80722 D|D 1|1 .|. .|. .|. .|. .|. .|. T|. 0.49799|. -0.8901|. 4|. .|. .|. .|. .|. 7.5198|7.5198 0.27622|0.27622 0.7802:0.143:0.0769:0.0|0.7802:0.143:0.0769:0.0 .|. .|. .|. .|. A|R 599|162 .|. .|. V|X -|- 2|1 0|0 AKD1|AKD1 109925393|109925393 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.672000|0.672000 0.39443|0.39443 4.511000|4.511000 0.60462|0.60462 1.885000|1.885000 0.54596|0.54596 0.459000|0.459000 0.35465|0.35465 GTG|TGA AK9-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding - ENST00000424296.2 Silent SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 FAT1 2195 broad.mit.edu 37 4 187630130 187630130 + Silent SNP A A G TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr4:187630130A>G ENST00000441802.2 - 2.0 1061 c.852T>C c.(850-852)ggT>ggC p.G284G NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 284.0 actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337) cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) 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) 228.0 CACCATTGGCACCCTGATCGC 0.483 HNSCC(5;0.00058) Colon(197;1040 2055 4143 4984 49344) 0 279.0 277.0 277.0 4 187630130.0 2155.0 4252.0 6407.0 SO:0001819 synonymous_variant X87241 CCDS47177.1 4q35.2 2013-05-31 2013-05-31 2008-10-30 ENSG00000083857 ENSG00000083857 2195.0 2195.0 """Cadherins / Cadherin-related""" 3595.0 protein-coding gene gene with protein product """cadherin-related family member 8""" 600976.0 """FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)""" FAT 8586420 Standard NM_005245 XM_005262834 Approved CDHF7, CDHR8 uc003izf.3 Q14517 OTTHUMG00000160320 ENST00000441802.2:c.852T>C 4.__UNKNOWN__:g.187630130A>G __UNKNOWN__ CCDS47177.1 FAT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000360209.3 - ENST00000441802.2 Silent SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 Unknown 0 broad.mit.edu 37 X 47972599 47972599 + Missense_Mutation SNP G G T TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chrX:47972599G>T snoU13 (31360 upstream) : SSX6 (3866 downstream) GATGACTTTTGGCAGGCTCCA 0.453 0 125.0 136.0 132.0 X 47972599.0 1505.0 2703.0 4208.0 SO:0001628 intergenic_variant X.__UNKNOWN__:g.47972599G>T __UNKNOWN__ . . . . . . . . . . . 4.270 0.049296 0.08243 . . ENSG00000171483 ENST00000376932;ENST00000319275 T;T 0.52057 3.06;0.68 2.37 -3.26 0.05064 . 1.722310 0.03783 N 0.261614 T 0.63733 0.2536 . . . 0.09310 N 1 D;B 0.89917 1.0;0.012 D;B 0.91635 0.999;0.021 T 0.58885 -0.7557 9 0.66056 D 0.02 . 7.1221 0.25450 0.491:0.0:0.509:0.0 . 102;102 B7Z813;Q7RTT6 .;SSX6_HUMAN C 102;4 ENSP00000366131:G102C;ENSP00000325176:G4C ENSP00000325176:G4C G + 1 0 SSX6 47857543 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.164000 0.09983 -1.022000 0.03346 -1.443000 0.01068 GGC 0.0 IGR SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 ZNF676 163223 broad.mit.edu 37 19 22363510 22363510 + Missense_Mutation SNP A A G TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr19:22363510A>G ENST00000397121.2 - 3.0 1326 c.1009T>C c.(1009-1011)Tac>Cac p.Y337H NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 337.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) 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) 67.0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TCACATTTGTAGGGTTTCTCT 0.413 0 71.0 77.0 75.0 19 22363510.0 2170.0 4281.0 6451.0 SO:0001583 missense AK097798 CCDS42539.1 19p12 2013-01-08 ENSG00000196109 163223.0 163223.0 """Zinc fingers, C2H2-type""" 20429.0 protein-coding gene gene with protein product Standard NM_001001411 NM_001001411 Approved uc002nqs.1 Q8N7Q3 ENST00000397121.2:c.1009T>C 19.__UNKNOWN__:g.22363510A>G ENSP00000380310:p.Tyr337His A8MVX5 __UNKNOWN__ CCDS42539.1 . . . . . . . . . . . 10.91 1.483984 0.26598 . . ENSG00000196109 ENST00000397121 T 0.21734 1.99 0.85 0.85 0.18980 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.26448 0.0646 N 0.17723 0.515 0.09310 N 1 D 0.76494 0.999 D 0.91635 0.999 T 0.12426 -1.0548 9 0.66056 D 0.02 . 6.592 0.22651 1.0:0.0:0.0:0.0 . 337 Q8N7Q3 ZN676_HUMAN H 337 ENSP00000380310:Y337H ENSP00000380310:Y337H Y - 1 0 ZNF676 22155350 0.017000 0.18338 0.026000 0.17262 0.026000 0.11368 2.739000 0.47409 0.166000 0.19597 0.164000 0.16699 TAC ZNF676-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464392.1 - ENST00000397121.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 ARHGEF39 84904 broad.mit.edu 37 9 35664419 35664419 + Missense_Mutation SNP G G A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr9:35664419G>A ENST00000378387.3 - 3.0 421 c.304C>T c.(304-306)Ctc>Ttc p.L102F ARHGEF39_ENST00000378395.2_Missense_Mutation_p.L66F|ARHGEF39_ENST00000343259.3_Missense_Mutation_p.L102F|ARHGEF39_ENST00000490970.1_5'UTR NM_032818.2 NP_116207.2 Q8N4T4 ARG39_HUMAN Rho guanine nucleotide exchange factor (GEF) 39 102.0 DH. {ECO:0000255|PROSITE- ProRule:PRU00062}. positive regulation of cell migration (GO:0030335) plasma membrane (GO:0005886) Rho guanyl-nucleotide exchange factor activity (GO:0005089) TGGTTATAGAGCTCCAAGTGG 0.572 0 99.0 107.0 104.0 9 35664419.0 2203.0 4300.0 6503.0 SO:0001583 missense AK001187 CCDS6584.2 9p13.3 2012-08-08 2012-08-08 2012-08-08 ENSG00000137135 ENSG00000137135 84904.0 84904.0 25909.0 protein-coding gene gene with protein product """chromosome 9 open reading frame 100""" C9orf100 22327280 Standard NM_032818 XR_242516 Approved FLJ14642 uc003zxm.1 Q8N4T4 OTTHUMG00000019869 ENST00000378387.3:c.304C>T 9.__UNKNOWN__:g.35664419G>A ENSP00000367638:p.Leu102Phe Q49AG0|Q6TPQ2|Q96ST6 __UNKNOWN__ CCDS6584.2 . . . . . . . . . . G 24.9 4.583859 0.86748 . . ENSG00000137135 ENST00000378387;ENST00000378395;ENST00000343259 T;T;T 0.64803 -0.12;-0.12;-0.12 6.02 5.12 0.69794 Dbl homology (DH) domain (5); 0.121237 0.53938 N 0.000056 T 0.76586 0.4008 M 0.76574 2.34 0.58432 D 0.999998 D;D 0.76494 0.999;0.996 D;D 0.75020 0.985;0.96 T 0.78679 -0.2110 10 0.62326 D 0.03 -24.4927 11.1164 0.48262 0.0844:0.0:0.9156:0.0 . 102;102 B4E0T1;Q8N4T4 .;CI100_HUMAN F 102;66;102 ENSP00000367638:L102F;ENSP00000367648:L66F;ENSP00000344922:L102F ENSP00000344922:L102F L - 1 0 C9orf100 35654419 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 3.231000 0.51294 1.551000 0.49450 0.655000 0.94253 CTC ARHGEF39-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052330.1 - ENST00000378387.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 OR51V1 283111 broad.mit.edu 37 11 5221718 5221718 + Silent SNP G G A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr11:5221718G>A ENST00000321255.1 - 1.0 212 c.213C>T c.(211-213)ttC>ttT p.F71F NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 71.0 detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39.0 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCATGGACAGGAAGTAAAACA 0.527 0 109.0 92.0 98.0 11 5221718.0 2201.0 4298.0 6499.0 SO:0001819 synonymous_variant BK004432 CCDS31375.1 11p15.4 2012-08-09 ENSG00000176742 ENSG00000176742 283111.0 283111.0 """GPCR / Class A : Olfactory receptors""" 19597.0 protein-coding gene gene with protein product OR51A12 Standard NM_001004760 NM_001004760 Approved uc010qyz.2 Q9H2C8 OTTHUMG00000066671 ENST00000321255.1:c.213C>T 11.__UNKNOWN__:g.5221718G>A __UNKNOWN__ CCDS31375.1 OR51V1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000142965.1 - ENST00000321255.1 Silent SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 VAV1 7409 broad.mit.edu 37 19 6833230 6833230 + Missense_Mutation SNP G G A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr19:6833230G>A ENST00000602142.1 + 16.0 1626 c.1544G>A c.(1543-1545)gGg>gAg p.G515E VAV1_ENST00000599806.1_Missense_Mutation_p.G460E|VAV1_ENST00000539284.1_Missense_Mutation_p.G418E|VAV1_ENST00000596764.1_Missense_Mutation_p.G483E|VAV1_ENST00000304076.2_Missense_Mutation_p.G515E NM_005428.3 NP_005419.2 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 515.0 apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295) cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886) guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700) biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62.0 ACCGCCAACGGGCATGACTTC 0.468 0 57.0 51.0 53.0 19 6833230.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS12174.1, CCDS59341.1, CCDS59342.1 19p13.2 2013-02-14 2007-07-25 ENSG00000141968 7409.0 7409.0 """Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing""" 12657.0 protein-coding gene gene with protein product 164875.0 """vav 1 oncogene""" VAV 9438848 Standard NM_005428 Approved uc010xjh.2 P15498 ENST00000602142.1:c.1544G>A 19.__UNKNOWN__:g.6833230G>A ENSP00000472929:p.Gly515Glu B4DVK9|M0QXX6|Q15860 __UNKNOWN__ CCDS12174.1 . . . . . . . . . . G 9.759 1.169520 0.21621 . . ENSG00000141968 ENST00000304076;ENST00000539284 T;T 0.75704 0.03;-0.96 4.85 4.85 0.62838 Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Pleckstrin homology-type (1); 0.407209 0.25598 N 0.029562 T 0.61590 0.2359 L 0.33485 1.01 0.40445 D 0.98008 D;D;B;P 0.55172 0.96;0.97;0.211;0.896 B;B;B;B 0.38842 0.283;0.261;0.059;0.084 T 0.63134 -0.6705 10 0.22706 T 0.39 . 15.4697 0.75432 0.0:0.0:1.0:0.0 . 418;515;460;515 F5H5P4;B2R8B5;Q96D37;P15498 .;.;.;VAV_HUMAN E 515;418 ENSP00000302269:G515E;ENSP00000443242:G418E ENSP00000302269:G515E G + 2 0 VAV1 6784230 0.872000 0.30054 0.195000 0.23364 0.521000 0.34408 2.552000 0.45828 2.242000 0.73789 0.650000 0.86243 GGG VAV1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000458475.1 + ENST00000602142.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 NOL4 8715 broad.mit.edu 37 18 31432959 31432959 + Missense_Mutation SNP G G C TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr18:31432959G>C ENST00000535384.1 - 7.0 1147 c.909C>G c.(907-909)agC>agG p.S303R NOL4_ENST00000589544.1_Missense_Mutation_p.S486R|NOL4_ENST00000269185.4_Missense_Mutation_p.S372R|NOL4_ENST00000538587.1_Missense_Mutation_p.S514R|NOL4_ENST00000261592.5_Missense_Mutation_p.S588R|NOL4_ENST00000535475.1_Missense_Mutation_p.S369R NM_001198549.1 NP_001185478.1 O94818 NOL4_HUMAN nucleolar protein 4 588.0 nucleolus (GO:0005730) RNA binding (GO:0003723) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51.0 AGGATCCTGAGCTAGTCGCCA 0.443 0 98.0 90.0 93.0 18 31432959.0 2203.0 4300.0 6503.0 SO:0001583 missense AB017800 CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1 18q12 2010-05-04 ENSG00000101746 ENSG00000101746 8715.0 8715.0 7870.0 protein-coding gene gene with protein product """cancer/testis antigen 125""" 603577.0 9813152 Standard NM_003787 NM_003787 Approved NOLP, HRIHFB2255, CT125 uc010dmi.3 O94818 OTTHUMG00000132291 ENST00000535384.1:c.909C>G 18.__UNKNOWN__:g.31432959G>C ENSP00000445733:p.Ser303Arg B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1 __UNKNOWN__ CCDS56058.1 . . . . . . . . . . G 11.38 1.620516 0.28801 . . ENSG00000101746 ENST00000261592;ENST00000269185;ENST00000535384;ENST00000535475;ENST00000538587 . . . 5.75 4.88 0.63580 . 0.057281 0.64402 D 0.000001 T 0.60702 0.2289 L 0.53249 1.67 0.34715 D 0.728123 P;P;P;P;D;B 0.62365 0.573;0.879;0.573;0.573;0.991;0.214 B;P;B;B;P;B 0.56088 0.259;0.448;0.277;0.259;0.791;0.158 T 0.73534 -0.3952 9 0.72032 D 0.01 -8.1417 11.6821 0.51463 0.1415:0.0:0.8585:0.0 . 303;514;588;303;486;369 B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4 .;.;NOL4_HUMAN;.;.;. R 588;372;303;369;514 . ENSP00000261592:S588R S - 3 2 NOL4 29686957 1.000000 0.71417 0.999000 0.59377 0.958000 0.62258 3.501000 0.53325 1.430000 0.47334 0.655000 0.94253 AGC NOL4-006 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000442111.1 - ENST00000535384.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 FAM47A 158724 broad.mit.edu 37 X 34149314 34149314 + Missense_Mutation SNP C C T TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chrX:34149314C>T ENST00000346193.3 - 1.0 1133 c.1082G>A c.(1081-1083)cGt>cAt p.R361H NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 361.0 p.R361H(1) 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) 97.0 TAGGCGGAGACGGGACACTCC 0.647 1 Substitution - Missense(1) urinary_tract(1) T HIS/ARG 2,3823 0,2,0,1625,571 29.0 31.0 30.0 1082 0.2 0.0 X 30.0 1,6723 0,0,1,2427,1869 no missense FAM47A NM_203408.3 29 0,2,1,4052,2440 TT,TC,T,CC,C 0.0149,0.0523,0.0284 benign 361/792 34149314.0 3,10546 2198.0 4297.0 6495.0 SO:0001583 missense BC026171 CCDS43926.1 Xp21.1 2004-08-09 ENSG00000185448 ENSG00000185448 158724.0 158724.0 29962.0 protein-coding gene gene with protein product """similar to hypothetical protein FLJ35782""" 12477932 Standard NM_203408 NM_203408 Approved MGC27003 uc004ddg.3 Q5JRC9 OTTHUMG00000021339 ENST00000346193.3:c.1082G>A X.__UNKNOWN__:g.34149314C>T ENSP00000345029:p.Arg361His A8K8I9|Q8TAA0 __UNKNOWN__ CCDS43926.1 . . . . . . . . . . c 0.009 -1.829422 0.00584 5.23E-4 1.49E-4 ENSG00000185448 ENST00000346193 T 0.09538 2.97 0.226 0.226 0.15353 . . . . . T 0.02083 0.0065 N 0.00230 -1.795 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.42103 -0.9471 8 0.38643 T 0.18 . . . . . 361 Q5JRC9 FA47A_HUMAN H 361 ENSP00000345029:R361H ENSP00000345029:R361H R - 2 0 FAM47A 34059235 0.024000 0.19004 0.006000 0.13384 0.006000 0.05464 -1.385000 0.02540 -0.914000 0.03827 -0.947000 0.02670 CGT FAM47A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056205.1 - ENST00000346193.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 ANKRD30BP2 0 broad.mit.edu 37 21 14414926 14414926 + RNA SNP A A C rs2821611 TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr21:14414926A>C ENST00000507941.1 + 0.0 95 ankyrin repeat domain 30B pseudogene 2 AAACAGGACAACTCTGATGAA 0.403 0 AF427490 21q11.2 2010-06-14 2010-06-14 2010-06-14 ENSG00000224309 ENSG00000224309 149992.0 149992.0 16620.0 pseudogene pseudogene """cancer/testis antigen 85""" """chromosome 21 open reading frame 99""" C21orf99 12036297, 17114284 Standard NR_026916 NR_026916 Approved CT85, CTSP-1 uc002yja.4 OTTHUMG00000074164 ENST00000507941.1: 21.__UNKNOWN__:g.14414926A>C __UNKNOWN__ ANKRD30BP2-004 KNOWN basic processed_transcript pseudogene OTTHUMT00000372094.1 + ENST00000507941.1 RNA SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 TTC39C 125488 broad.mit.edu 37 18 21710341 21710341 + Missense_Mutation SNP C C T TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr18:21710341C>T ENST00000540918.2 + 7.0 912 c.662C>T c.(661-663)gCc>gTc p.A221V TTC39C_ENST00000317571.3_Missense_Mutation_p.A528V|TTC39C_ENST00000304621.6_Missense_Mutation_p.A467V Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 528.0 breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19.0 CAGCCGTATGCCTGTTATGAA 0.313 0 159.0 151.0 154.0 18 21710341.0 2202.0 4300.0 6502.0 SO:0001583 missense AK091080 CCDS32804.1, CCDS45839.1, CCDS58616.1 18q11.2 2014-02-07 2008-06-23 2008-06-23 ENSG00000168234 ENSG00000168234 125488.0 125488.0 """Tetratricopeptide (TTC) repeat domain containing""" 26595.0 protein-coding gene gene with protein product """chromosome 18 open reading frame 17""" C18orf17 14702039 Standard NM_153211 NM_153211 Approved FLJ33761, HsT2697 uc002kuw.3 Q8N584 OTTHUMG00000179403 ENST00000540918.2:c.662C>T 18.__UNKNOWN__:g.21710341C>T ENSP00000443016:p.Ala221Val B7WP63|J3QRR1|Q0VAJ2|Q8N284 __UNKNOWN__ . . . . . . . . . . C 36 5.689535 0.96784 . . ENSG00000168234 ENST00000304621;ENST00000317571;ENST00000540918 T;T;T 0.79033 -1.23;0.67;-1.23 6.08 6.08 0.98989 . 0.095259 0.64402 D 0.000001 D 0.89371 0.6696 M 0.83118 2.625 0.80722 D 1 D 0.76494 0.999 D 0.67548 0.952 D 0.89505 0.3767 10 0.87932 D 0 -0.3533 20.6647 0.99678 0.0:1.0:0.0:0.0 . 528 Q8N584 TT39C_HUMAN V 467;528;221 ENSP00000306598:A467V;ENSP00000323645:A528V;ENSP00000443016:A221V ENSP00000306598:A467V A + 2 0 TTC39C 19964339 1.000000 0.71417 0.998000 0.56505 0.934000 0.57294 7.487000 0.81328 2.890000 0.99128 0.655000 0.94253 GCC TTC39C-006 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000446110.2 + ENST00000540918.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 PRPF8 10594 broad.mit.edu 37 17 1554459 1554459 + Missense_Mutation SNP G G A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr17:1554459G>A ENST00000572621.1 - 41.0 7061 c.6796C>T c.(6796-6798)Cgt>Tgt p.R2266C PRPF8_ENST00000304992.6_Missense_Mutation_p.R2266C Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 2266.0 gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375) catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682) poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070) 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) 77.0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CCAAGGAAACGGTCCGACAGC 0.572 0 75.0 61.0 66.0 17 1554459.0 2203.0 4300.0 6503.0 SO:0001583 missense AB007510 CCDS11010.1 17p13.3 2013-07-16 2013-06-10 ENSG00000174231 ENSG00000174231 10594.0 10594.0 17340.0 protein-coding gene gene with protein product 607300.0 """PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)""" RP13 11468273, 10411133 Standard NM_006445 Approved PRPC8, Prp8, hPrp8, SNRNP220 uc002fte.3 Q6P2Q9 OTTHUMG00000090553 ENST00000572621.1:c.6796C>T 17.__UNKNOWN__:g.1554459G>A ENSP00000460348:p.Arg2266Cys O14547|O75965 __UNKNOWN__ CCDS11010.1 . . . . . . . . . . G 16.26 3.072957 0.55646 . . ENSG00000174231 ENST00000304992 D 0.94828 -3.53 5.58 4.61 0.57282 PRO, C-terminal (1); 0.000000 0.85682 D 0.000000 D 0.96519 0.8864 M 0.88775 2.98 0.80722 D 1 D 0.64830 0.994 P 0.54026 0.74 D 0.96791 0.9582 10 0.87932 D 0 . 13.5789 0.61890 0.0746:0.0:0.9254:0.0 . 2266 Q6P2Q9 PRP8_HUMAN C 2266 ENSP00000304350:R2266C ENSP00000304350:R2266C R - 1 0 PRPF8 1501209 1.000000 0.71417 0.976000 0.42696 0.191000 0.23601 7.592000 0.82676 1.366000 0.46076 -0.140000 0.14226 CGT PRPF8-002 NOVEL alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000438412.2 - ENST00000572621.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 TP53 7157 broad.mit.edu 37 17 7577084 7577084 + Missense_Mutation SNP T T A rs121912667 TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr17:7577084T>A ENST00000269305.4 - 8.0 1043 c.854A>T c.(853-855)gAg>gTg p.E285V TP53_ENST00000455263.2_Missense_Mutation_p.E285V|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E285V|TP53_ENST00000359597.4_Missense_Mutation_p.E285V|TP53_ENST00000420246.2_Missense_Mutation_p.E285V 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 285.0 Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A. E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:1694291}.|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657) ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) p.E285V(15)|p.0?(8)|p.E285G(5)|p.?(2)|p.E285A(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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) 24185.0 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) Acetylsalicylic acid(DB00945) ATTCTCTTCCTCTGTGCGCCG 0.562 111.0 """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) Pancreas(47;798 1329 9957 10801) yes Rec yes Li-Fraumeni syndrome 17 17p13 7157.0 tumor protein p53 """L, E, M, O""" 46 Substitution - Missense(22)|Deletion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2) liver(7)|upper_aerodigestive_tract(5)|lung(5)|soft_tissue(4)|central_nervous_system(4)|bone(4)|large_intestine(3)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|biliary_tract(1)|salivary_gland(1)|skin(1)|ovary(1) GRCh37 CM083790 TP53 M rs121912667 92.0 79.0 83.0 17 7577084.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; AF307851 CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1 17p13.1 2014-09-17 2008-01-16 ENSG00000141510 ENSG00000141510 7157.0 7157.0 11998.0 protein-coding gene gene with protein product """Li-Fraumeni syndrome""" 191170.0 6396087, 3456488, 2047879 Standard NM_000546 NM_001126115 Approved p53, LFS1 uc002gij.3 P04637 OTTHUMG00000162125 ENST00000269305.4:c.854A>T 17.__UNKNOWN__:g.7577084T>A ENSP00000269305:p.Glu285Val Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61 __UNKNOWN__ CCDS11118.1 . . . . . . . . . . T 23.0 4.367808 0.82463 . . ENSG00000141510 ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690 D;D;D;D;D;D 0.99825 -6.97;-6.97;-6.97;-6.97;-6.97;-6.97 4.99 4.99 0.66335 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.000000 0.85682 D 0.000000 D 0.99792 0.9912 M 0.84846 2.72 0.80722 D 1 D;D;D;D 0.76494 0.999;0.994;0.999;0.999 D;D;D;D 0.85130 0.994;0.976;0.994;0.997 D 0.96880 0.9645 10 0.87932 D 0 -38.0538 12.6799 0.56916 0.0:0.0:0.0:1.0 . 285;285;285;285 P04637-2;P04637-3;P04637;Q1MSW8 .;.;P53_HUMAN;. V 285;285;285;285;285;274;153 ENSP00000352610:E285V;ENSP00000269305:E285V;ENSP00000398846:E285V;ENSP00000391127:E285V;ENSP00000391478:E285V;ENSP00000425104:E153V ENSP00000269305:E285V E - 2 0 TP53 7517809 1.000000 0.71417 0.939000 0.37840 0.649000 0.38597 7.802000 0.85969 2.085000 0.62840 0.379000 0.24179 GAG TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 - ENST00000269305.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 VCAN 1462 broad.mit.edu 37 5 82835161 82835163 + In_Frame_Del DEL AAC AAC - TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr5:82835161_82835163delAAC ENST00000502527.2 + 7.0 1147 VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_In_Frame_Del_p.T1128del|VCAN_ENST00000265077.3_In_Frame_Del_p.T2115del|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR P13611 CSPG2_HUMAN versican carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281) extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540) 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) 190.0 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) Hyaluronan(DB08818) TTGAAAGTGAAACAACATCAGAG 0.379 0 SO:0001627 intron_variant X15998 CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1 5q14.2-q14.3 2013-05-07 2007-02-15 2007-02-15 ENSG00000038427 ENSG00000038427 1462.0 1462.0 """Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans""" 2464.0 protein-coding gene gene with protein product """versican proteoglycan""" 118661.0 """chondroitin sulfate proteoglycan 2""" CSPG2 1478664, 21063030 Standard NM_004385 NM_004385 Approved PG-M uc003kii.3 P13611 OTTHUMG00000131321 ENST00000502527.2:c.1043-6193AAC>- 5.__UNKNOWN__:g.82835164_82835166delAAC P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5 __UNKNOWN__ CCDS47242.1 VCAN-005 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000369622.3 + ENST00000502527.2 Intron DEL PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 Unknown 79518 bcgsc.ca 37 11 56216275 56216275 + RNA SNP G G A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr11:56216275G>A OR5R1 (30567 upstream) : OR5M9 (13669 downstream) TCGGCATGATGTTGTTAATCA 0.448 0 SO:0001628 intergenic_variant 11.__UNKNOWN__:g.56216275G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 Unknown 79316 bcgsc.ca 37 11 124351382 124351382 + RNA SNP T T C TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr11:124351382T>C OR8B8 (40328 upstream) : OR8B12 (61195 downstream) CCCCATCCCATAGACACCCAG 0.478 0 SO:0001628 intergenic_variant 11.__UNKNOWN__:g.124351382T>C __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 Unknown 400094 bcgsc.ca 37 13 19467763 19467763 + RNA SNP A A G TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr13:19467763A>G RNU6-76P (13466 upstream) : LINC00408 (11815 downstream) TGCCAGTGATATGAAGGTTCT 0.522 0 SO:0001628 intergenic_variant 13.__UNKNOWN__:g.19467763A>G __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 OR8B8 26493 ucsc.edu 37 11 124310980 124310980 + Missense_Mutation SNP A A G TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr11:124310980A>G ENST00000328064.2 - 1.0 74 c.2T>C c.(1-3)aTg>aCg p.M1T NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 1.0 detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39.0 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CTCAGCAGCCATTGTCATTTA 0.498 0 28.0 28.0 28.0 11 124310980.0 2199.0 4297.0 6496.0 SO:0001582 initiator_codon_variant AF238488 CCDS8446.1 11q24.2 2012-08-09 ENSG00000197125 ENSG00000197125 26493.0 26493.0 """GPCR / Class A : Olfactory receptors""" 8477.0 protein-coding gene gene with protein product 9119360 Standard NM_012378 NM_012378 Approved TPCR85 uc010sal.2 Q15620 OTTHUMG00000165917 ENST00000328064.2:c.2T>C 11.__UNKNOWN__:g.124310980A>G ENSP00000330280:p.Met1Thr A1L446|Q96RC8 __UNKNOWN__ CCDS8446.1 . . . . . . . . . . A 13.07 2.127330 0.37533 . . ENSG00000197125 ENST00000328064 T 0.01406 4.93 4.08 0.447 0.16608 . 0.000000 0.56097 D 0.000021 T 0.06096 0.0158 . . . 0.58432 D 0.999995 D 0.76494 0.999 D 0.85130 0.997 T 0.05484 -1.0882 9 0.87932 D 0 . 8.8043 0.34927 0.6756:0.0:0.3244:0.0 . 1 Q15620 OR8B8_HUMAN T 1 ENSP00000330280:M1T ENSP00000330280:M1T M - 2 0 OR8B8 123816190 0.023000 0.18921 0.011000 0.14972 0.043000 0.13939 0.336000 0.19823 0.057000 0.16193 0.455000 0.32223 ATG OR8B8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387056.1 Missense_Mutation - ENST00000328064.2 Start_Codon_SNP SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 RHBDD3 25807 hgsc.bcm.edu 37 22 29656373 29656373 + Missense_Mutation SNP G G C TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr22:29656373G>C ENST00000216085.7 - 6.0 1349 c.925C>G c.(925-927)Cca>Gca p.P309A NM_012265.1 NP_036397.1 Q9Y3P4 RHBD3_HUMAN rhomboid domain containing 3 309.0 liver development (GO:0001889)|MAPK cascade (GO:0000165)|negative regulation of natural killer cell activation (GO:0032815)|positive regulation of protein catabolic process (GO:0045732)|regulation of acute inflammatory response (GO:0002673)|regulation of protein secretion (GO:0050708)|response to xenobiotic stimulus (GO:0009410) integral component of membrane (GO:0016021) serine-type endopeptidase activity (GO:0004252) lung(1)|ovary(1) 2.0 TCCTGGGCTGGCCCGTCAAGA 0.662 0 24.0 23.0 23.0 22 29656373.0 2202.0 4298.0 6500.0 SO:0001583 missense AL050346 CCDS13850.1 22q12.2 2006-02-22 2006-02-22 2006-02-22 ENSG00000100263 ENSG00000100263 25807.0 25807.0 1308.0 protein-coding gene gene with protein product """chromosome 22 open reading frame 3""" C22orf3 10591208, 15105437 Standard NM_012265 NM_012265 Approved PTAG uc003aeq.1 Q9Y3P4 OTTHUMG00000151032 ENST00000216085.7:c.925C>G 22.__UNKNOWN__:g.29656373G>C ENSP00000216085:p.Pro309Ala Q6I9X3|Q9UGQ7 __UNKNOWN__ CCDS13850.1 . . . . . . . . . . G 11.90 1.778106 0.31502 . . ENSG00000100263 ENST00000216085 T 0.23950 1.88 5.48 0.593 0.17478 UBA-like (1); 0.405610 0.23692 N 0.045520 T 0.19886 0.0478 L 0.59436 1.845 0.09310 N 1 B 0.27229 0.172 B 0.22386 0.039 T 0.17379 -1.0371 10 0.62326 D 0.03 -1.879 4.2345 0.10618 0.4034:0.1667:0.43:0.0 . 309 Q9Y3P4 RHBD3_HUMAN A 309 ENSP00000216085:P309A ENSP00000216085:P309A P - 1 0 RHBDD3 27986373 0.647000 0.27304 0.009000 0.14445 0.221000 0.24807 1.161000 0.31773 0.221000 0.20879 -0.366000 0.07423 CCA RHBDD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000321085.1 - ENST00000216085.7 Missense_Mutation SNP PCPG-TCGA-QR-A6GY-Normal-SM-5EQH6 EPHB2 2048 broad.mit.edu 37 1 23235625 23235625 + Silent SNP C C T TCGA-QR-A6GZ-01A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3bfaaf-b42e-4279-a234-da6b29fffb5f dc831897-5afc-4187-860f-4ac7b570871d g.chr1:23235625C>T ENST00000374632.3 + 13.0 2479 c.2466C>T c.(2464-2466)tcC>tcT p.S822S EPHB2_ENST00000374630.3_Silent_p.S821S|EPHB2_ENST00000400191.3_Silent_p.S821S|EPHB2_ENST00000374627.1_Silent_p.S816S P29323 EPHB2_HUMAN EPH receptor B2 821.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655) axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025) ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005) 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) 56.0 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) AGGTGATGTCCTATGGGGAGC 0.597 0 131.0 116.0 121.0 1 23235625.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF025304 CCDS229.2, CCDS230.1 1p36.1-p35 2014-09-17 2004-10-28 ENSG00000133216 ENSG00000133216 2048.0 2048.0 2.7.10.1 """EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing""" 3393.0 protein-coding gene gene with protein product 600997.0 """EphB2""" DRT, ERK, EPHT3 1648701 Standard NM_017449 NM_017449 Approved Hek5, Tyro5 uc001bge.3 P29323 OTTHUMG00000002881 ENST00000374632.3:c.2466C>T 1.__UNKNOWN__:g.23235625C>T O43477|Q5T0U6|Q5T0U7|Q5T0U8 __UNKNOWN__ CCDS230.1 EPHB2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000008061.2 + ENST00000374632.3 Silent SNP PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD THEMIS 387357 broad.mit.edu 37 6 128134119 128134119 + Missense_Mutation SNP C C T TCGA-QR-A6GZ-01A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3bfaaf-b42e-4279-a234-da6b29fffb5f dc831897-5afc-4187-860f-4ac7b570871d g.chr6:128134119C>T ENST00000368250.1 - 5.0 1928 c.1430G>A c.(1429-1431)cGc>cAc p.R477H THEMIS_ENST00000537166.1_Missense_Mutation_p.R521H|THEMIS_ENST00000543064.1_Missense_Mutation_p.R556H|THEMIS_ENST00000368248.2_Missense_Mutation_p.R556H Q8N1K5 THMS1_HUMAN thymocyte selection associated 556.0 CABIT 2. negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852) cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634) 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) 60.0 TTTCGGAGGGCGAGGTGGGGG 0.493 0 111.0 114.0 113.0 6 128134119.0 2203.0 4300.0 6503.0 SO:0001583 missense AK094863 CCDS34534.1, CCDS55055.1 6q22.33 2012-02-08 2009-06-25 2009-06-25 ENSG00000172673 ENSG00000172673 387357.0 387357.0 21569.0 protein-coding gene gene with protein product """thymocyte expressed molecule involved in selection""" 613607.0 """chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated""" C6orf207, C6orf190, TSEPA 19597499, 19597498, 19597497 Standard NM_001010923 NM_001010923 Approved bA325O24.4, FLJ40584, bA325O24.3 uc011ebt.2 Q8N1K5 OTTHUMG00000015534 ENST00000368250.1:c.1430G>A 6.__UNKNOWN__:g.128134119C>T ENSP00000357233:p.Arg477His A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7 __UNKNOWN__ . . . . . . . . . . C 17.07 3.294707 0.60086 . . ENSG00000172673 ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166 T;T;T;T 0.32988 1.43;1.58;1.48;1.44 5.83 2.91 0.33838 . 0.258158 0.36482 N 0.002576 T 0.38904 0.1058 M 0.65498 2.005 0.36638 D 0.876665 D;D 0.89917 1.0;0.999 D;P 0.63597 0.916;0.763 T 0.46261 -0.9204 10 0.72032 D 0.01 -0.4145 14.6116 0.68519 0.3819:0.6181:0.0:0.0 . 556;556 F5H1J9;Q8N1K5 .;THMS1_HUMAN H 477;556;556;521 ENSP00000357233:R477H;ENSP00000439594:R556H;ENSP00000357231:R556H;ENSP00000439863:R521H ENSP00000357231:R556H R - 2 0 THEMIS 128175812 0.985000 0.35326 0.907000 0.35723 0.898000 0.52572 2.713000 0.47194 0.293000 0.22520 0.563000 0.77884 CGC THEMIS-001 KNOWN basic protein_coding protein_coding OTTHUMT00000042156.1 - ENST00000368250.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD SLC33A1 9197 broad.mit.edu 37 3 155571395 155571395 + Missense_Mutation SNP G G A TCGA-QR-A6GZ-01A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3bfaaf-b42e-4279-a234-da6b29fffb5f dc831897-5afc-4187-860f-4ac7b570871d g.chr3:155571395G>A ENST00000392845.3 - 1.0 772 c.392C>T c.(391-393)gCg>gTg p.A131V SLC33A1_ENST00000359479.3_Missense_Mutation_p.A131V O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 131.0 acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810) endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) acetyl-CoA transporter activity (GO:0008521) endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22.0 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AACGTAGACCGCATCAACCAA 0.438 0 62.0 67.0 65.0 3 155571395.0 2203.0 4300.0 6503.0 SO:0001583 missense D88152 CCDS3173.1 3q25.31 2013-05-22 2002-12-06 ENSG00000169359 ENSG00000169359 9197.0 9197.0 """Solute carriers""" 95.0 protein-coding gene gene with protein product 603690.0 """acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)""" ACATN, SPG42 9096318, 19061983 Standard NM_004733 NM_004733 Approved AT-1, AT1 uc003fao.2 O00400 OTTHUMG00000158481 ENST00000392845.3:c.392C>T 3.__UNKNOWN__:g.155571395G>A ENSP00000376587:p.Ala131Val B2R5Q2|D3DNK4 __UNKNOWN__ CCDS3173.1 . . . . . . . . . . G 22.4 4.283162 0.80803 . . ENSG00000169359 ENST00000392845;ENST00000359479 T;T 0.80566 -1.39;-1.39 5.42 5.42 0.78866 Major facilitator superfamily domain, general substrate transporter (1); 0.111009 0.64402 D 0.000006 T 0.78966 0.4367 L 0.55213 1.73 0.53688 D 0.999976 P 0.38020 0.615 B 0.36186 0.219 T 0.79636 -0.1721 10 0.49607 T 0.09 -12.5777 19.6435 0.95767 0.0:0.0:1.0:0.0 . 131 O00400 ACATN_HUMAN V 131 ENSP00000376587:A131V;ENSP00000352456:A131V ENSP00000352456:A131V A - 2 0 SLC33A1 157054089 1.000000 0.71417 0.351000 0.25721 0.847000 0.48162 9.529000 0.98049 2.712000 0.92718 0.650000 0.86243 GCG SLC33A1-002 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351130.3 - ENST00000392845.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD TPCN1 53373 broad.mit.edu 37 12 113714812 113714812 + Missense_Mutation SNP A A G TCGA-QR-A6GZ-01A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3bfaaf-b42e-4279-a234-da6b29fffb5f dc831897-5afc-4187-860f-4ac7b570871d g.chr12:113714812A>G ENST00000392569.4 + 10.0 1020 c.827A>G c.(826-828)cAt>cGt p.H276R TPCN1_ENST00000550785.1_Missense_Mutation_p.H416R|TPCN1_ENST00000335509.6_Missense_Mutation_p.H344R|TPCN1_ENST00000541517.1_Missense_Mutation_p.H416R Q9ULQ1 TPC1_HUMAN two pore segment channel 1 344.0 calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085) endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40.0 GCTATCCAGCATGCCTACCGC 0.567 0 197.0 195.0 196.0 12 113714812.0 2203.0 4300.0 6503.0 SO:0001583 missense AB032995 CCDS31908.1, CCDS44985.1 12q24.21 2011-07-05 ENSG00000186815 ENSG00000186815 53373.0 53373.0 """Voltage-gated ion channels / Two-pore channels""" 18182.0 protein-coding gene gene with protein product 609666.0 10574461, 10753632, 16382101 Standard NM_017901 XM_005253905 Approved KIAA1169, FLJ20612, TPC1 uc001tux.3 Q9ULQ1 OTTHUMG00000169625 ENST00000392569.4:c.827A>G 12.__UNKNOWN__:g.113714812A>G ENSP00000376350:p.His276Arg A7E258|Q86XS9|Q8NC20 __UNKNOWN__ . . . . . . . . . . A 8.548 0.874813 0.17395 . . ENSG00000186815 ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569 D;D;D;D 0.96491 -3.93;-4.03;-4.03;-3.99 5.56 5.56 0.83823 . 0.000000 0.85682 D 0.000000 D 0.92642 0.7662 L 0.38531 1.155 0.58432 D 0.999993 B;P;B 0.39352 0.126;0.669;0.185 B;B;B 0.38020 0.027;0.263;0.057 D 0.91657 0.5339 10 0.10111 T 0.7 -28.1955 15.4089 0.74902 1.0:0.0:0.0:0.0 . 344;416;344 A5PKY2;Q9ULQ1-3;Q9ULQ1 .;.;TPC1_HUMAN R 344;416;416;276 ENSP00000335300:H344R;ENSP00000448083:H416R;ENSP00000438125:H416R;ENSP00000376350:H276R ENSP00000335300:H344R H + 2 0 TPCN1 112199195 1.000000 0.71417 0.977000 0.42913 0.363000 0.29612 8.333000 0.90026 2.117000 0.64856 0.496000 0.49642 CAT TPCN1-003 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000405159.1 + ENST00000392569.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD SFT2D1 113402 broad.mit.edu 37 6 166743049 166743049 + Missense_Mutation SNP C C T TCGA-QR-A6GZ-01A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3bfaaf-b42e-4279-a234-da6b29fffb5f dc831897-5afc-4187-860f-4ac7b570871d g.chr6:166743049C>T ENST00000361731.3 - 3.0 288 c.179G>A c.(178-180)gGc>gAc p.G60D SFT2D1_ENST00000487841.1_5'UTR NM_145169.1 NP_660152.1 SFT2 domain containing 1 NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1) 6.0 Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199) OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05) AAGCTTTATGCCGCCCGGAAG 0.363 0 56.0 58.0 57.0 6 166743049.0 2203.0 4300.0 6503.0 SO:0001583 missense AF041429 CCDS5292.1 6q27 2008-02-05 2005-07-25 2005-07-25 ENSG00000198818 ENSG00000198818 113402.0 113402.0 21102.0 protein-coding gene gene with protein product """chromosome 6 open reading frame 83""" C6orf83 Standard NM_145169 NM_145169 Approved MGC19825, pRGR1 uc003qux.3 Q8WV19 OTTHUMG00000016001 ENST00000361731.3:c.179G>A 6.__UNKNOWN__:g.166743049C>T ENSP00000354590:p.Gly60Asp __UNKNOWN__ CCDS5292.1 . . . . . . . . . . C 17.64 3.440471 0.63067 . . ENSG00000198818 ENST00000361731 T 0.57752 0.38 4.71 3.83 0.44106 . 0.054564 0.64402 D 0.000001 T 0.60038 0.2238 M 0.80508 2.5 0.45354 D 0.998346 D 0.89917 1.0 D 0.97110 1.0 T 0.61950 -0.6957 10 0.17832 T 0.49 -38.1461 12.1513 0.54051 0.1726:0.8274:0.0:0.0 . 60 Q8WV19 SFT2A_HUMAN D 60 ENSP00000354590:G60D ENSP00000354590:G60D G - 2 0 SFT2D1 166663039 0.997000 0.39634 0.095000 0.20976 0.975000 0.68041 5.786000 0.69006 1.298000 0.44778 0.650000 0.86243 GGC SFT2D1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043061.2 - ENST00000361731.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD MMP19 4327 broad.mit.edu 37 12 56230872 56230872 + Missense_Mutation SNP C C T TCGA-QR-A6GZ-01A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3bfaaf-b42e-4279-a234-da6b29fffb5f dc831897-5afc-4187-860f-4ac7b570871d g.chr12:56230872C>T ENST00000548629.1 - 9.0 1525 c.1406G>A c.(1405-1407)gGc>gAc p.G469D MMP19_ENST00000394182.1_Missense_Mutation_p.G206D|MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000322569.4_Missense_Mutation_p.G492D Q99542 MMP19_HUMAN matrix metallopeptidase 19 492.0 angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725) extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26.0 Marimastat(DB00786) CAAGGTTATGCCCGTACCTGA 0.507 0 254.0 240.0 245.0 12 56230872.0 2203.0 4300.0 6503.0 SO:0001583 missense X92521 CCDS8895.1, CCDS61146.1 12q14 2005-08-08 2005-08-08 ENSG00000123342 4327.0 4327.0 7165.0 protein-coding gene gene with protein product 601807.0 """matrix metalloproteinase 19""" MMP18 9232430 Standard NM_002429 NM_002429 Approved RASI-1 uc001sib.4 Q99542 OTTHUMG00000170216 ENST00000548629.1:c.1406G>A 12.__UNKNOWN__:g.56230872C>T ENSP00000446979:p.Gly469Asp B4E030|O15278|O95606|Q99580 __UNKNOWN__ . . . . . . . . . . C 10.58 1.388699 0.25118 . . ENSG00000123342 ENST00000394182;ENST00000322569;ENST00000548629 T;T;T 0.16196 4.61;2.52;2.36 5.08 -1.03 0.10102 . 380.668000 0.00166 N 0.000000 T 0.09905 0.0243 N 0.14661 0.345 0.09310 N 1 B;B 0.06786 0.0;0.001 B;B 0.08055 0.001;0.003 T 0.27262 -1.0079 10 0.08381 T 0.77 . 8.2874 0.31937 0.0:0.4412:0.0:0.5588 . 492;206 Q99542;Q99542-3 MMP19_HUMAN;. D 206;492;469 ENSP00000377736:G206D;ENSP00000313437:G492D;ENSP00000446979:G469D ENSP00000313437:G492D G - 2 0 MMP19 54517139 0.000000 0.05858 0.001000 0.08648 0.010000 0.07245 -1.224000 0.02959 -0.161000 0.10983 -0.291000 0.09656 GGC MMP19-011 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000409060.1 - ENST00000548629.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD GULP1 51454 broad.mit.edu 37 2 189342446 189342446 + Missense_Mutation SNP G G A TCGA-QR-A6GZ-01A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3bfaaf-b42e-4279-a234-da6b29fffb5f dc831897-5afc-4187-860f-4ac7b570871d g.chr2:189342446G>A ENST00000409580.1 + 4.0 731 c.17G>A c.(16-18)aGc>aAc p.S6N GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409843.1_Missense_Mutation_p.S6N|GULP1_ENST00000409830.1_Missense_Mutation_p.S6N|GULP1_ENST00000359135.3_Missense_Mutation_p.S6N|GULP1_ENST00000410051.1_Missense_Mutation_p.S6N|GULP1_ENST00000409609.1_Missense_Mutation_p.S6N|GULP1_ENST00000409637.3_Missense_Mutation_p.S6N|GULP1_ENST00000409805.1_Missense_Mutation_p.S6N Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 1 6.0 apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165) cytoplasm (GO:0005737) signal transducer activity (GO:0004871) endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 13.0 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) CGTGCTTTTAGCAGGAAGAAA 0.348 Pancreas(178;563 2065 20199 42378 52815) 0 165.0 160.0 162.0 2 189342446.0 2203.0 4299.0 6502.0 SO:0001583 missense AF191771 CCDS2295.1, CCDS58742.1, CCDS58743.1 2q32.3-q33 2008-02-05 ENSG00000144366 ENSG00000144366 51454.0 51454.0 18649.0 protein-coding gene gene with protein product 608165.0 11729193 Standard NM_016315 NM_001252668 Approved CED6, CED-6, GULP uc010fru.3 Q9UBP9 OTTHUMG00000132647 ENST00000409580.1:c.17G>A 2.__UNKNOWN__:g.189342446G>A ENSP00000386289:p.Ser6Asn B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3 __UNKNOWN__ CCDS2295.1 . . . . . . . . . . G 12.74 2.030001 0.35797 . . ENSG00000144366 ENST00000409843;ENST00000409830;ENST00000410051;ENST00000409927;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409637;ENST00000409609 T;T;T;T;T;T;T;T 0.42900 0.96;0.97;2.56;2.56;0.97;0.97;2.56;0.97 4.6 3.7 0.42460 . 0.236286 0.41001 D 0.000963 T 0.12347 0.0300 N 0.00707 -1.245 0.27771 N 0.943481 B;B;B;B 0.09022 0.0;0.0;0.0;0.002 B;B;B;B 0.11329 0.004;0.0;0.001;0.006 T 0.18524 -1.0334 10 0.18276 T 0.48 -0.0176 7.9345 0.29923 0.1131:0.0:0.8869:0.0 . 6;6;6;6 E9PB86;Q9UBP9;B8ZZ72;Q9UBP9-2 .;GULP1_HUMAN;.;. N 6 ENSP00000387144:S6N;ENSP00000386732:S6N;ENSP00000387013:S6N;ENSP00000386809:S6N;ENSP00000352047:S6N;ENSP00000386289:S6N;ENSP00000386402:S6N;ENSP00000386867:S6N ENSP00000352047:S6N S + 2 0 GULP1 189050691 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 1.650000 0.37292 2.257000 0.74773 0.655000 0.94253 AGC GULP1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335722.1 + ENST00000409580.1 Missense_Mutation SNP PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD SALL1 6299 broad.mit.edu 37 16 51173041 51173041 + Missense_Mutation SNP C C T TCGA-QR-A6GZ-01A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3bfaaf-b42e-4279-a234-da6b29fffb5f dc831897-5afc-4187-860f-4ac7b570871d g.chr16:51173041C>T ENST00000251020.4 - 2.0 3125 c.3092G>A c.(3091-3093)tGc>tAc p.C1031Y SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.C934Y|SALL1_ENST00000541611.1_Intron NM_002968.2 NP_002959.2 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1031.0 adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281) chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581) beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126.0 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GCAAACTGTGCAAATAAATGG 0.423 GBM(103;1352 1446 1855 4775 8890) 0 86.0 84.0 85.0 16 51173041.0 2198.0 4300.0 6498.0 SO:0001583 missense X98833 CCDS10747.1, CCDS45483.1 16q12.1 2014-09-17 2013-10-17 ENSG00000103449 ENSG00000103449 6299.0 6299.0 """Zinc fingers, C2H2-type""" 10524.0 protein-coding gene gene with protein product 602218.0 """sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)""" TBS 9425907 Standard NM_002968 NM_002968 Approved Hsal1, ZNF794 uc021tie.1 Q9NSC2 OTTHUMG00000133176 ENST00000251020.4:c.3092G>A 16.__UNKNOWN__:g.51173041C>T ENSP00000251020:p.Cys1031Tyr Q99881|Q9NSC3|Q9P1R0 __UNKNOWN__ CCDS10747.1 . . . . . . . . . . C 13.35 2.210209 0.39003 . . ENSG00000103449 ENST00000251020;ENST00000440970;ENST00000457559 D;D 0.85088 -1.94;-1.94 5.83 5.83 0.93111 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.85682 D 0.000000 D 0.94437 0.8210 M 0.91920 3.255 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.94776 0.7949 10 0.72032 D 0.01 . 20.1337 0.98010 0.0:1.0:0.0:0.0 . 1031 Q9NSC2 SALL1_HUMAN Y 1031;934;995 ENSP00000251020:C1031Y;ENSP00000407914:C934Y ENSP00000251020:C1031Y C - 2 0 SALL1 49730542 1.000000 0.71417 1.000000 0.80357 0.098000 0.18820 7.818000 0.86416 2.753000 0.94483 0.650000 0.86243 TGC SALL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256883.2 - ENST00000251020.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD CDH20 28316 broad.mit.edu 37 18 59221533 59221533 + Missense_Mutation SNP G G A TCGA-QR-A6GZ-01A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3bfaaf-b42e-4279-a234-da6b29fffb5f dc831897-5afc-4187-860f-4ac7b570871d g.chr18:59221533G>A ENST00000262717.4 + 12.0 2409 c.2011G>A c.(2011-2013)Ggc>Agc p.G671S CDH20_ENST00000538374.1_Missense_Mutation_p.G671S|CDH20_ENST00000536675.2_Missense_Mutation_p.G671S Q9HBT6 CAD20_HUMAN cadherin 20, type 2 671.0 homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61.0 Colorectal(73;0.186) CGAGGGCGGCGGCGAGGAGGA 0.652 0 102.0 102.0 102.0 18 59221533.0 2203.0 4300.0 6503.0 SO:0001583 missense AF217289 CCDS11977.1 18q21.33 2010-01-26 ENSG00000101542 ENSG00000101542 28316.0 28316.0 """Cadherins / Major cadherins""" 1760.0 protein-coding gene gene with protein product 605807.0 10995570 Standard NM_031891 NM_031891 Approved CDH7L3, Cdh7 uc010dps.1 Q9HBT6 OTTHUMG00000132768 ENST00000262717.4:c.2011G>A 18.__UNKNOWN__:g.59221533G>A ENSP00000262717:p.Gly671Ser Q495S3 __UNKNOWN__ CCDS11977.1 . . . . . . . . . . G 29.9 5.047846 0.93740 . . ENSG00000101542 ENST00000536675;ENST00000538374;ENST00000262717 D;D;D 0.98701 -5.08;-5.08;-5.08 5.39 4.46 0.54185 Cadherin, cytoplasmic domain (1); 0.000000 0.85682 D 0.000000 D 0.99257 0.9741 M 0.91612 3.225 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 D 0.98720 1.0708 10 0.87932 D 0 . 15.8931 0.79315 0.0:0.1353:0.8647:0.0 . 671 Q9HBT6 CAD20_HUMAN S 671 ENSP00000444767:G671S;ENSP00000442226:G671S;ENSP00000262717:G671S ENSP00000262717:G671S G + 1 0 CDH20 57372513 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.943000 0.87716 2.699000 0.92147 0.655000 0.94253 GGC CDH20-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256141.2 + ENST00000262717.4 Missense_Mutation SNP PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD OR10A5 144124 broad.mit.edu 37 11 6867636 6867636 + Silent SNP G G A TCGA-QR-A6GZ-01A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3bfaaf-b42e-4279-a234-da6b29fffb5f dc831897-5afc-4187-860f-4ac7b570871d g.chr11:6867636G>A ENST00000299454.4 + 1.0 754 c.723G>A c.(721-723)acG>acA p.T241T OR10A5_ENST00000379831.2_Silent_p.T245T Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 241.0 detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21.0 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CCTTCTCTACGTGCTCCTCAC 0.443 Pancreas(44;21 1072 25662 28041 45559) 0 259.0 227.0 238.0 11 6867636.0 2201.0 4296.0 6497.0 SO:0001819 synonymous_variant AF324499 CCDS7773.1 11p15.4 2012-08-09 ENSG00000166363 ENSG00000166363 144124.0 144124.0 """GPCR / Class A : Olfactory receptors""" 15131.0 protein-coding gene gene with protein product 608493.0 OR10A1 Standard NM_178168 NM_178168 Approved OR11-403, JCG6 uc001met.1 Q9H207 OTTHUMG00000165738 ENST00000299454.4:c.723G>A 11.__UNKNOWN__:g.6867636G>A O95223|Q52M66|Q96R21|Q96R22 __UNKNOWN__ CCDS7773.1 OR10A5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385983.1 + ENST00000299454.4 Silent SNP PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD Unknown 114614 bcgsc.ca 37 21 26946357 26946357 + RNA SNP T T G TCGA-QR-A6GZ-01A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq ba3bfaaf-b42e-4279-a234-da6b29fffb5f dc831897-5afc-4187-860f-4ac7b570871d g.chr21:26946357T>G MIR155HG (1 upstream) : LINC00515 (8724 downstream) GCATTAACAGTGTATGATGCC 0.453 0 86.0 71.0 75.0 21 26946357.0 1568.0 3582.0 5150.0 SO:0001628 intergenic_variant 21.__UNKNOWN__:g.26946357T>G __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD ACSL6 23305 broad.mit.edu 37 5 131308989 131308989 + Silent SNP G G C TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr5:131308989G>C ENST00000379244.1 - 12.0 1334 c.1098C>G c.(1096-1098)gtC>gtG p.V366V ACSL6_ENST00000379264.2_Silent_p.V391V|ACSL6_ENST00000357096.1_Silent_p.V291V|ACSL6_ENST00000544770.1_Silent_p.V275V|ACSL6_ENST00000379246.1_Silent_p.V377V|ACSL6_ENST00000379240.1_Silent_p.V366V|ACSL6_ENST00000431707.1_Silent_p.V346V|ACSL6_ENST00000296869.4_Silent_p.V391V|ACSL6_ENST00000379272.2_Silent_p.V381V|ACSL6_ENST00000379255.1_Silent_p.V291V|ACSL6_ENST00000543479.1_Silent_p.V366V|ACSL6_ENST00000379249.3_Silent_p.V366V Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 366.0 acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803) NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35.0 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCAGTCGTGGGACCACAGGGA 0.552 0 107.0 95.0 99.0 5 131308989.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB020644 CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1 5q31 2008-02-05 2004-02-19 2004-02-20 ENSG00000164398 ENSG00000164398 23305.0 23305.0 """Acyl-CoA synthetase family""" 16496.0 protein-coding gene gene with protein product 604443.0 """fatty-acid-Coenzyme A ligase, long-chain 6""" FACL6 10502316, 10548543 Standard NM_015256 NM_015256 Approved KIAA0837, ACS2, LACS5, LACS2 uc003kvy.2 Q9UKU0 OTTHUMG00000150692 ENST00000379244.1:c.1098C>G 5.__UNKNOWN__:g.131308989G>C J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7 __UNKNOWN__ CCDS56381.1 ACSL6-008 NOVEL not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000132626.1 - ENST00000379244.1 Silent SNP PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD BAGE2 85319 broad.mit.edu 37 21 11047521 11047521 + RNA SNP C C T TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr21:11047521C>T ENST00000470054.1 - 0.0 733 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 extracellular region (GO:0005576) 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) TTTCATAATTCGTTGAAGACA 0.348 0 AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319.0 85319.0 15723.0 protein-coding gene gene with protein product """cancer/testis antigen family 2, member 2""" 12461691 Standard NM_182482 NM_182482 Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: 21.__UNKNOWN__:g.11047521C>T A8K925|Q08ER0 __UNKNOWN__ BAGE2-001 KNOWN basic processed_transcript pseudogene OTTHUMT00000157417.3 - ENST00000470054.1 RNA SNP PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD NUTM1 256646 broad.mit.edu 37 15 34648741 34648741 + Silent SNP G G A TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr15:34648741G>A ENST00000537011.1 + 8.0 2914 c.2532G>A c.(2530-2532)ttG>ttA p.L844L NUTM1_ENST00000438749.3_Silent_p.L834L|NUTM1_ENST00000333756.4_Silent_p.L816L NM_001284292.1 NP_001271221.1 Q86Y26 NUTM1_HUMAN NUT midline carcinoma, family member 1 816.0 cytoplasm (GO:0005737)|nucleus (GO:0005634) GCCCACCCTTGAGGTCCAAAG 0.522 0 50.0 54.0 53.0 15 34648741.0 2201.0 4298.0 6499.0 SO:0001819 synonymous_variant AF482429 CCDS32190.1, CCDS61584.1, CCDS61585.1 15q14 2014-01-28 2013-03-14 2013-03-14 ENSG00000184507 ENSG00000184507 256646.0 256646.0 29919.0 protein-coding gene gene with protein product """nuclear protein in testis""" 608963.0 """chromosome 15 open reading frame 55""" C15orf55 12543779 Standard NM_175741 NM_175741 Approved NUT, DKFZp434O192, FAM22H uc001zif.3 Q86Y26 OTTHUMG00000172348 ENST00000537011.1:c.2532G>A 15.__UNKNOWN__:g.34648741G>A B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3 __UNKNOWN__ NUTM1-001 PUTATIVE downstream_ATG|basic|exp_conf protein_coding protein_coding OTTHUMT00000418024.1 + ENST00000537011.1 Silent SNP PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD ARHGEF40 55701 broad.mit.edu 37 14 21552977 21552977 + Silent SNP G G A TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr14:21552977G>A ENST00000298694.4 + 18.0 3982 c.3855G>A c.(3853-3855)aaG>aaA p.K1285K ARHGEF40_ENST00000298693.3_Silent_p.K1285K Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 1285.0 PH. {ECO:0000255|PROSITE- ProRule:PRU00145}. cytoplasm (GO:0005737) Rho guanyl-nucleotide exchange factor activity (GO:0005089) large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9.0 GTGGCCGAAAGAAGTGCCTTC 0.527 0 159.0 146.0 150.0 14 21552977.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS32041.1 14q11.2 2012-07-24 ENSG00000165801 ENSG00000165801 55701.0 55701.0 """Rho guanine nucleotide exchange factors""" 25516.0 protein-coding gene gene with protein product 610018.0 16143467 Standard NM_001278529 Approved solo, FLJ10357 uc001vzp.3 Q8TER5 ENST00000298694.4:c.3855G>A 14.__UNKNOWN__:g.21552977G>A A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24 __UNKNOWN__ CCDS32041.1 ARHGEF40-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000413122.1 + ENST00000298694.4 Silent SNP PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD F5 2153 broad.mit.edu 37 1 169511063 169511063 + Missense_Mutation SNP T T C TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr1:169511063T>C ENST00000367797.3 - 13.0 3466 c.3265A>G c.(3265-3267)Atg>Gtg p.M1089V F5_ENST00000367796.3_Missense_Mutation_p.M1094V NM_000130.4 NP_000121 P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1089.0 B. blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576) extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982) copper ion binding (GO:0005507) 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) 128.0 all_hematologic(923;0.208) ART-123(DB05777)|Drotrecogin alfa(DB00055) CCAAAATCCATAGAGGGCAAT 0.438 0 171.0 157.0 162.0 1 169511063.0 2203.0 4300.0 6503.0 SO:0001583 missense M14335 CCDS1281.1 1q23 2012-10-02 ENSG00000198734 ENSG00000198734 2153.0 2153.0 3542.0 protein-coding gene gene with protein product 612309.0 Standard NM_000130 NM_000130 Approved uc001ggg.1 P12259 OTTHUMG00000034595 ENST00000367797.3:c.3265A>G 1.__UNKNOWN__:g.169511063T>C ENSP00000356771:p.Met1089Val A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6 __UNKNOWN__ CCDS1281.1 . . . . . . . . . . T 0 -2.668337 0.00105 . . ENSG00000198734 ENST00000367797;ENST00000367796 T;T 0.17370 2.28;2.28 5.04 -10.1 0.00402 . 1.695630 0.02259 N 0.067430 T 0.01627 0.0052 N 0.12569 0.235 0.23282 N 0.99799 B 0.02656 0.0 B 0.01281 0.0 T 0.23404 -1.0189 9 0.02654 T 1 4.1868 12.0974 0.53763 0.0939:0.6693:0.0952:0.1416 . 1089 P12259 FA5_HUMAN V 1089;1094 ENSP00000356771:M1089V;ENSP00000356770:M1094V ENSP00000356770:M1094V M - 1 0 F5 167777687 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -2.124000 0.01318 -2.787000 0.00358 -1.344000 0.01245 ATG F5-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000083712.1 - ENST00000367797.3 Missense_Mutation SNP PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD CNTN1 1272 broad.mit.edu 37 12 41337803 41337803 + Missense_Mutation SNP C C T TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr12:41337803C>T ENST00000551295.2 + 14.0 1631 c.1514C>T c.(1513-1515)aCg>aTg p.T505M CNTN1_ENST00000347616.1_Missense_Mutation_p.T505M|CNTN1_ENST00000547849.1_Missense_Mutation_p.T505M|CNTN1_ENST00000348761.2_Missense_Mutation_p.T494M|CNTN1_ENST00000360099.3_Missense_Mutation_p.T505M|CNTN1_ENST00000547702.1_Missense_Mutation_p.T505M NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 505.0 Ig-like C2-type 6. axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246) p.T505M(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90.0 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) ATAGATCCTACGCGAATTATA 0.333 1 Substitution - Missense(1) prostate(1) 84.0 75.0 78.0 12 41337803.0 2203.0 4299.0 6502.0 SO:0001583 missense Z21488 CCDS8737.1, CCDS8738.1, CCDS58225.1 12q11-q12 2014-01-30 ENSG00000018236 1272.0 1272.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands""" 2171.0 protein-coding gene gene with protein product """glycoprotein gP135""" 600016.0 7959734, 8586965 Standard NM_001843 NM_001843 Approved F3, GP135 uc031qgz.1 Q12860 ENST00000551295.2:c.1514C>T 12.__UNKNOWN__:g.41337803C>T ENSP00000447006:p.Thr505Met A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466 __UNKNOWN__ CCDS8737.1 . . . . . . . . . . C 15.41 2.826087 0.50739 . . ENSG00000018236 ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761 T;T;T;T;T;T 0.27402 1.67;1.67;1.67;1.67;1.67;1.67 4.72 4.72 0.59763 Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.85682 D 0.000000 T 0.63355 0.2504 M 0.89478 3.035 0.58432 D 0.999998 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.977;0.998;0.999 T 0.70741 -0.4789 10 0.62326 D 0.03 . 18.2484 0.89995 0.0:1.0:0.0:0.0 . 505;494;505 Q12860-3;Q12860-2;Q12860 .;.;CNTN1_HUMAN M 505;505;505;505;505;494 ENSP00000448004:T505M;ENSP00000447006:T505M;ENSP00000448653:T505M;ENSP00000325660:T505M;ENSP00000353213:T505M;ENSP00000261160:T494M ENSP00000325660:T505M T + 2 0 CNTN1 39624070 1.000000 0.71417 0.982000 0.44146 0.049000 0.14656 7.114000 0.77103 2.625000 0.88918 0.511000 0.50034 ACG CNTN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403692.2 + ENST00000551295.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD PPP1R10 5514 broad.mit.edu 37 6 30570123 30570123 + Missense_Mutation SNP C C T TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr6:30570123C>T ENST00000376511.2 - 19.0 2855 c.2303G>A c.(2302-2304)cGt>cAt p.R768H NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 768.0 Gly-rich. protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351) chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25.0 TTCGTGGGGACGATGTCCACT 0.667 0 152.0 161.0 158.0 6 30570123.0 1510.0 2709.0 4219.0 SO:0001583 missense Y13247 CCDS4681.1 6p21.3 2012-04-17 2011-10-04 ENSG00000204569 ENSG00000204569 5514.0 5514.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 9284.0 protein-coding gene gene with protein product """phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53""" 603771.0 """protein phosphatase 1, regulatory (inhibitor) subunit 10""" 9461602, 9784381 Standard NM_002714 NM_002714 Approved PNUTS, FB19, CAT53, p99 uc003nqn.2 Q96QC0 OTTHUMG00000031259 ENST00000376511.2:c.2303G>A 6.__UNKNOWN__:g.30570123C>T ENSP00000365694:p.Arg768His O00405 __UNKNOWN__ CCDS4681.1 . . . . . . . . . . C 9.680 1.149132 0.21288 . . ENSG00000204569 ENST00000376511 T 0.57273 0.41 3.17 3.17 0.36434 . 0.254551 0.26616 N 0.023383 T 0.11281 0.0275 N 0.08118 0 0.31722 N 0.638175 P 0.49358 0.923 B 0.32090 0.14 T 0.06899 -1.0801 10 0.33141 T 0.24 -5.5188 9.7415 0.40420 0.2074:0.7925:0.0:0.0 . 768 Q96QC0 PP1RA_HUMAN H 768 ENSP00000365694:R768H ENSP00000365694:R768H R - 2 0 PPP1R10 30678102 0.132000 0.22450 0.920000 0.36463 0.599000 0.36880 1.927000 0.40094 2.100000 0.63781 0.485000 0.47835 CGT PPP1R10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076556.2 - ENST00000376511.2 Missense_Mutation SNP PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD TRGV3 0 broad.mit.edu 37 7 38398424 38398424 + RNA SNP C C A TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr7:38398424C>A ENST00000390346.2 - 0.0 226 P03979 TVC_HUMAN T cell receptor gamma variable 3 immune response (GO:0006955) plasma membrane (GO:0005886) MHC protein binding (GO:0042287)|peptide antigen binding (GO:0042605) TTCTGACTGGCTGCAATGGGA 0.438 0 86.0 81.0 83.0 7 38398424.0 1886.0 4117.0 6003.0 M13430 7p14 2012-02-07 ENSG00000211699 ENSG00000211699 6976.0 6976.0 """T cell receptors / TRG locus""" 12288.0 other T cell receptor gene """T-cell receptor, gamma, variable region V3""" TCRGV3 2938743, 2969332 Standard NG_001336 NG_001336 Approved V1S3 uc003tgr.2 P03979 OTTHUMG00000155102 ENST00000390346.2: 7.__UNKNOWN__:g.38398424C>A __UNKNOWN__ TRGV3-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene TR_V_gene OTTHUMT00000338416.3 - ENST00000390346.2 RNA SNP PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD GIPC1 10755 broad.mit.edu 37 19 14591196 14591212 + Frame_Shift_Del DEL GTAGTGCCGGCAGCCCA GTAGTGCCGGCAGCCCA - rs148903990 byFrequency TCGA-QR-A6GZ-05A-11D-A35D-08 TCGA-QR-A6GZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1be348d1-bb8d-4bcb-9df7-f044e55c42b8 dc831897-5afc-4187-860f-4ac7b570871d g.chr19:14591196_14591212delGTAGTGCCGGCAGCCCA ENST00000393033.4 - 6.0 829_845 c.560_576delTGGGCTGCCGGCACTAC c.(559-576)ctgggctgccggcactacfs p.LGCRHY187fs GIPC1_ENST00000591349.1_Frame_Shift_Del_p.LGCRHY90fs|GIPC1_ENST00000586027.1_Frame_Shift_Del_p.LGCRHY187fs|GIPC1_ENST00000345425.2_Frame_Shift_Del_p.LGCRHY187fs|GIPC1_ENST00000393028.1_Frame_Shift_Del_p.LGCRHY90fs|GIPC1_ENST00000393029.3_Frame_Shift_Del_p.LGCRHY90fs NM_005716.3 NP_005707.1 O14908 GIPC1_HUMAN GIPC PDZ domain containing family, member 1 187.0 PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}. endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268) brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506) actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102) endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6.0 GGGCCACCTCGTAGTGCCGGCAGCCCAGCAGGCTCTG 0.677 OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) Pancreas(33;78 923 2910 41023 52850) 0 SO:0001589 frameshift_variant AF089816 CCDS12310.1, CCDS12311.1 19p13.1 2009-09-22 2005-06-28 2005-06-28 10755.0 10755.0 1226.0 protein-coding gene gene with protein product 605072.0 """chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1""" C19orf3, RGS19IP1 9770488, 9482110 Standard NM_005716 Approved TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP uc002myx.4 O14908 ENST00000393033.4:c.560_576delTGGGCTGCCGGCACTAC 19.__UNKNOWN__:g.14591196_14591212delGTAGTGCCGGCAGCCCA ENSP00000376753:p.Leu187fs 696.0 A8K4I3|A8MZG3|Q9BTC9 __UNKNOWN__ CCDS12310.1 GIPC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000460239.2 - ENST00000393033.4 Frame_Shift_Del DEL PCPG-TCGA-QR-A6GZ-Normal-SM-5EQHD TULP1 7287 broad.mit.edu 37 6 35473863 35473863 + Missense_Mutation SNP G G A TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr6:35473863G>A ENST00000229771.6 - 10.0 995 c.916C>T c.(916-918)Cgc>Tgc p.R306C TULP1_ENST00000322263.4_Missense_Mutation_p.R253C NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 306.0 dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202) actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19.0 AGCCGGCAGCGCACCGTGCGG 0.677 GBM(55;1027 1091 11115 23439) 0 48.0 55.0 53.0 6 35473863.0 2203.0 4299.0 6502.0 SO:0001583 missense U82468 CCDS4807.1, CCDS75436.1 6p21.3 2014-01-28 ENSG00000112041 ENSG00000112041 7287.0 7287.0 12423.0 protein-coding gene gene with protein product 602280.0 RP14 9096357, 9521870 Standard NM_003322 Approved TUBL1, LCA15 uc003okv.4 O00294 OTTHUMG00000014575 ENST00000229771.6:c.916C>T 6.__UNKNOWN__:g.35473863G>A ENSP00000229771:p.Arg306Cys O43536|Q5TGM5|Q8N571 __UNKNOWN__ CCDS4807.1 . . . . . . . . . . G 18.29 3.591678 0.66219 . . ENSG00000112041 ENST00000229771;ENST00000322263 D;D 0.96716 -4.1;-4.1 4.88 4.88 0.63580 Tubby, C-terminal (3); 0.394694 0.25639 N 0.029286 D 0.91185 0.7223 L 0.60845 1.875 0.54753 D 0.999985 P;B 0.42161 0.772;0.1 B;B 0.32864 0.154;0.063 D 0.92612 0.6100 10 0.87932 D 0 -3.0E-4 10.9973 0.47585 0.0:0.0:0.6892:0.3108 . 253;306 O00294-2;O00294 .;TULP1_HUMAN C 306;253 ENSP00000229771:R306C;ENSP00000319414:R253C ENSP00000229771:R306C R - 1 0 TULP1 35581841 1.000000 0.71417 0.964000 0.40570 0.975000 0.68041 5.589000 0.67523 2.543000 0.85770 0.484000 0.47621 CGC TULP1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040307.2 - ENST00000229771.6 Missense_Mutation SNP PCPG-TCGA-QR-A6H0-Normal-SM-5EQFJ SYNE1 23345 broad.mit.edu 37 6 152539540 152539540 + Splice_Site SNP T T C rs35128811 TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr6:152539540T>C ENST00000367255.5 - 121.0 22646 c.e121-2 SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993) actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) 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) 524.0 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AACTCCAGCCTTTTTTTCCAC 0.343 HNSCC(10;0.0054) 0 125.0 136.0 132.0 6 152539540.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AB018339 CCDS5235.1, CCDS5236.1, CCDS5236.2 6q24.2-q25.3 2014-09-17 ENSG00000131018 ENSG00000131018 23345.0 23345.0 17089.0 protein-coding gene gene with protein product """myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1""" 608441.0 """chromosome 6 open reading frame 98""" C6orf98 9872452, 10878022 Standard NM_182961 NM_182961 Approved SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1 uc003qou.4 Q8NF91 OTTHUMG00000015841 ENST00000367255.5:c.22045-2A>G 6.__UNKNOWN__:g.152539540T>C E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8 __UNKNOWN__ CCDS5236.2 . . . . . . . . . . T 13.29 2.192011 0.38707 . . ENSG00000131018 ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251 . . . 5.68 5.68 0.88126 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 15.9247 0.79606 0.0:0.0:0.0:1.0 . . . . . -1 . . . - . . SYNE1 152581233 1.000000 0.71417 0.823000 0.32752 0.548000 0.35241 6.065000 0.71176 2.160000 0.67779 0.528000 0.53228 . SYNE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000334755.2 Intron - ENST00000367255.5 Splice_Site SNP PCPG-TCGA-QR-A6H0-Normal-SM-5EQFJ ARMC3 219681 broad.mit.edu 37 10 23248052 23248052 + Missense_Mutation SNP C C G TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr10:23248052C>G ENST00000298032.5 + 5.0 430 c.346C>G c.(346-348)Cag>Gag p.Q116E ARMC3_ENST00000409983.3_Missense_Mutation_p.Q116E|ARMC3_ENST00000376528.4_5'UTR|ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000409049.3_Missense_Mutation_p.Q116E NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 116.0 extracellular vesicular exosome (GO:0070062) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47.0 TGTCATTGCCCAGCTCGCTCC 0.284 0 108.0 110.0 110.0 10 23248052.0 2203.0 4300.0 6503.0 SO:0001583 missense AK057389 CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1 10p12.31 2013-02-14 ENSG00000165309 ENSG00000165309 219681.0 219681.0 """Armadillo repeat containing""" 30964.0 protein-coding gene gene with protein product """cancer/testis antigen 81""" 611226.0 Standard NM_173081 XM_005252380 Approved FLJ32827, CT81 uc001irm.4 Q5W041 OTTHUMG00000017811 ENST00000298032.5:c.346C>G 10.__UNKNOWN__:g.23248052C>G ENSP00000298032:p.Gln116Glu A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49 __UNKNOWN__ CCDS7142.1 . . . . . . . . . . C 4.372 0.068543 0.08436 . . ENSG00000165309 ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000447081 T;T;T;T 0.51574 0.79;0.79;1.45;0.7 5.15 4.22 0.49857 Armadillo-like helical (1);Armadillo-type fold (1); 0.782790 0.12558 N 0.458421 T 0.41604 0.1166 L 0.44542 1.39 0.80722 D 1 B;B;B 0.28971 0.218;0.005;0.229 B;B;B 0.27076 0.076;0.008;0.058 T 0.13202 -1.0518 10 0.22706 T 0.39 -20.9269 14.7577 0.69579 0.1567:0.8433:0.0:0.0 . 116;28;116 Q5W041-4;C9JC46;Q5W041 .;.;ARMC3_HUMAN E 116;116;116;116;28 ENSP00000298032:Q116E;ENSP00000386943:Q116E;ENSP00000387288:Q116E;ENSP00000396629:Q28E ENSP00000298032:Q116E Q + 1 0 ARMC3 23288058 1.000000 0.71417 0.862000 0.33874 0.196000 0.23810 2.962000 0.49176 1.224000 0.43551 0.650000 0.86243 CAG ARMC3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000047197.2 + ENST00000298032.5 Missense_Mutation SNP PCPG-TCGA-QR-A6H0-Normal-SM-5EQFJ NLGN1 22871 broad.mit.edu 37 3 173322724 173322724 + Silent SNP A A G TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr3:173322724A>G ENST00000457714.1 + 3.0 765 c.336A>G c.(334-336)caA>caG p.Q112Q NLGN1_ENST00000545397.1_Silent_p.Q112Q|NLGN1_ENST00000361589.4_Silent_p.Q112Q|NLGN1_ENST00000401917.3_Silent_p.Q112Q NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 112.0 alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553) cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202) cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872) 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) 83.0 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) ATGCCACTCAATTTGCTCCTG 0.463 0 167.0 162.0 164.0 3 173322724.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB028993 CCDS3222.1 3q26.32 2008-07-18 ENSG00000169760 ENSG00000169760 22871.0 22871.0 14291.0 protein-coding gene gene with protein product 600568.0 10767552, 10819331 Standard NM_014932 NM_014932 Approved KIAA1070 uc003fio.1 Q8N2Q7 OTTHUMG00000157005 ENST00000457714.1:c.336A>G 3.__UNKNOWN__:g.173322724A>G Q9UPT2 __UNKNOWN__ CCDS3222.1 NLGN1-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000347054.3 + ENST00000457714.1 Silent SNP PCPG-TCGA-QR-A6H0-Normal-SM-5EQFJ EPHA6 285220 broad.mit.edu 37 3 97329696 97329696 + Missense_Mutation SNP C C T TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr3:97329696C>T ENST00000514100.1 + 10.0 990 c.748C>T c.(748-750)Cgg>Tgg p.R250W EPHA6_ENST00000502694.1_Missense_Mutation_p.R250W|EPHA6_ENST00000389672.5_Missense_Mutation_p.R858W|EPHA6_ENST00000442602.2_Missense_Mutation_p.R224W NM_001278300.1 NP_001265229.1 Q9UF33 EPHA6_HUMAN EPH receptor A6 764.0 integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634) ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003) 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) 101.0 CTCCTTTTTGCGGGTGAGGTG 0.338 0 C TRP/ARG,TRP/ARG 0,3688 0,0,1844 184.0 169.0 173.0 2572,748 4.0 1.0 3 173.0 1,8201 0,1,4100 no missense,missense EPHA6 NM_001080448.2,NM_173655.2 101,101 0,1,5944 TT,TC,CC 0.0122,0.0,0.0084 probably-damaging,probably-damaging 858/1131,250/335 97329696.0 1,11889 1844.0 4101.0 5945.0 SO:0001583 missense AK092565 CCDS46876.1, CCDS54616.1, CCDS63697.1 3q12.1 2013-02-11 2004-10-28 ENSG00000080224 ENSG00000080224 285220.0 285220.0 """EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing""" 19296.0 protein-coding gene gene with protein product 600066.0 12471243 Standard NM_001080448 NM_001080448 Approved FLJ35246 uc010how.1 Q9UF33 OTTHUMG00000159208 ENST00000514100.1:c.748C>T 3.__UNKNOWN__:g.97329696C>T ENSP00000421711:p.Arg250Trp D6RAL5 __UNKNOWN__ . . . . . . . . . . C 17.67 3.447225 0.63178 0.0 1.22E-4 ENSG00000080224 ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602 D;D;D;D 0.89939 -1.87;-1.87;-1.87;-2.59 5.89 4.03 0.46877 Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); . . . . D 0.94470 0.8220 M 0.82517 2.595 0.54753 D 0.999982 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 0.999;1.0;0.997;0.998 D 0.94672 0.7857 9 0.87932 D 0 . 14.975 0.71264 0.2723:0.7276:0.0:0.0 . 224;763;250;250 B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5 .;EPHA6_HUMAN;.;. W 858;250;250;224 ENSP00000374323:R858W;ENSP00000421711:R250W;ENSP00000423950:R250W;ENSP00000403100:R224W ENSP00000374323:R858W R + 1 2 EPHA6 98812386 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 1.279000 0.33191 0.749000 0.32854 0.555000 0.69702 CGG EPHA6-007 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000359997.1 + ENST00000514100.1 Missense_Mutation SNP PCPG-TCGA-QR-A6H0-Normal-SM-5EQFJ POM121L9P 0 broad.mit.edu 37 22 24659536 24659536 + RNA SNP C C T TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr22:24659536C>T ENST00000414583.2 + 0.0 3061 NR_003714.1 POM121 transmembrane nucleoporin-like 9, pseudogene GATCTCATCGCGGACACCACT 0.512 0 AL040062, AL117401 22q11.22 2012-03-13 2012-03-13 ENSG00000128262 ENSG00000128262 29774.0 29774.0 30080.0 pseudogene pseudogene """POM121 membrane glycoprotein-like 9, pseudogene""" Standard NM_014549 NR_003714 Approved OTTHUMG00000150763 ENST00000414583.2: 22.__UNKNOWN__:g.24659536C>T __UNKNOWN__ POM121L9P-001 KNOWN basic processed_transcript pseudogene OTTHUMT00000319991.1 + ENST00000414583.2 RNA SNP PCPG-TCGA-QR-A6H0-Normal-SM-5EQFJ SLC25A44 9673 broad.mit.edu 37 1 156177746 156177746 + Missense_Mutation SNP C C T TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr1:156177746C>T ENST00000359511.4 + 3.0 867 c.695C>T c.(694-696)gCt>gTt p.A232V SLC25A44_ENST00000423538.2_Missense_Mutation_p.A209V|SLC25A44_ENST00000469537.1_3'UTR NM_014655.2 NP_055470.1 Q96H78 S2544_HUMAN solute carrier family 25, member 44 232.0 transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14.0 Hepatocellular(266;0.158) GGGCCCCTGGCTGCAGCCACT 0.557 0 98.0 82.0 87.0 1 156177746.0 2203.0 4300.0 6503.0 SO:0001583 missense AB007915 CCDS1133.1, CCDS72943.1 1q22 2013-05-22 ENSG00000160785 ENSG00000160785 9673.0 9673.0 """Solute carriers""" 29036.0 protein-coding gene gene with protein product 610824.0 16949250 Standard NM_014655 NM_001286184 Approved FLJ90431, KIAA0446 uc001fnp.3 Q96H78 OTTHUMG00000014816 ENST00000359511.4:c.695C>T 1.__UNKNOWN__:g.156177746C>T ENSP00000352497:p.Ala232Val O75034 __UNKNOWN__ CCDS1133.1 . . . . . . . . . . C 28.8 4.955019 0.92726 . . ENSG00000160785 ENST00000359511;ENST00000423538 D;D 0.87256 -2.23;-2.23 5.17 5.17 0.71159 Mitochondrial carrier domain (2); 0.056219 0.64402 D 0.000001 D 0.94062 0.8097 M 0.91612 3.225 0.80722 D 1 D;D;D 0.67145 0.992;0.996;0.989 P;D;D 0.71656 0.894;0.962;0.974 D 0.94855 0.8017 10 0.87932 D 0 -7.6045 16.2196 0.82251 0.0:1.0:0.0:0.0 . 209;209;232 E9PGQ0;B4DGC4;Q96H78 .;.;S2544_HUMAN V 232;209 ENSP00000352497:A232V;ENSP00000407560:A209V ENSP00000352497:A232V A + 2 0 SLC25A44 154444370 1.000000 0.71417 1.000000 0.80357 0.798000 0.45092 7.435000 0.80391 2.677000 0.91161 0.637000 0.83480 GCT SLC25A44-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040856.1 + ENST00000359511.4 Missense_Mutation SNP PCPG-TCGA-QR-A6H0-Normal-SM-5EQFJ TRIML1 339976 broad.mit.edu 37 4 189060901 189060901 + Silent SNP G G A rs147444946 byFrequency TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr4:189060901G>A ENST00000332517.3 + 1.0 329 c.189G>A c.(187-189)ccG>ccA p.P63P NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 63.0 multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) 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) 60.0 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) TGGAGGGCCCGCATTTCCAGT 0.602 G 0.0 0.0 2184.0 1.0 , , 0.0002 0.0 0.05 EXOME 0.0003 SNP Melanoma(31;213 1036 16579 23968 32372) 0 G 5,4401 9.9+/-24.2 0,5,2198 83.0 88.0 86.0 189 -11.2 0.0 4 dbSNP_134 86.0 0,8600 0,0,4300 no coding-synonymous TRIML1 NM_178556.3 0,5,6498 AA,AG,GG 0.0,0.1135,0.0384 63/469 189060901.0 5,13001 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK093499 CCDS3851.1 4q35.2 2013-01-09 ENSG00000184108 ENSG00000184108 339976.0 339976.0 """RING-type (C3HC4) zinc fingers""" 26698.0 protein-coding gene gene with protein product 12477932 Standard NM_178556 NM_178556 Approved FLJ36180, RNF209 uc003izm.1 Q8N9V2 OTTHUMG00000160237 ENST00000332517.3:c.189G>A 4.__UNKNOWN__:g.189060901G>A Q96BE5 __UNKNOWN__ CCDS3851.1 TRIML1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359813.1 + ENST00000332517.3 Silent SNP PCPG-TCGA-QR-A6H0-Normal-SM-5EQFJ APOA1 335 broad.mit.edu 37 11 116706628 116706628 + Missense_Mutation SNP C C T TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr11:116706628C>T ENST00000375329.2 - 2.0 765 c.634G>A c.(634-636)Gcg>Acg p.A212T APOA1_ENST00000236850.4_Missense_Mutation_p.A234T|APOA1_ENST00000375320.1_Missense_Mutation_p.A234T|APOA1_ENST00000359492.2_Missense_Mutation_p.A234T|APOA1_ENST00000375323.1_Missense_Mutation_p.A234T P02647 APOA1_HUMAN apolipoprotein A-I 234.0 10 X approximate tandem repeats. adrenal gland development (GO:0030325)|blood coagulation (GO:0007596)|blood vessel endothelial cell migration (GO:0043534)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor signaling pathway (GO:0007186)|glucocorticoid metabolic process (GO:0008211)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|integrin-mediated signaling pathway (GO:0007229)|lipid storage (GO:0019915)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|negative chemotaxis (GO:0050919)|negative regulation of cell adhesion molecule production (GO:0060354)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of lipase activity (GO:0060192)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|peripheral nervous system axon regeneration (GO:0014012)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of hydrolase activity (GO:0051345)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transferase activity (GO:0051347)|protein oxidation (GO:0018158)|protein stabilization (GO:0050821)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein phosphorylation (GO:0001932)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to nutrient (GO:0007584)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328) blood microparticle (GO:0072562)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982) apolipoprotein A-I receptor binding (GO:0034191)|apolipoprotein receptor binding (GO:0034190)|beta-amyloid binding (GO:0001540)|chemorepellent activity (GO:0045499)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|enzyme binding (GO:0019899)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|identical protein binding (GO:0042802)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548) cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2) 9.0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148) TCCTCGAGCGCGGGCTTGGCC 0.642 0 38.0 42.0 41.0 11 116706628.0 2200.0 4287.0 6487.0 SO:0001583 missense X02162 CCDS8378.1 11q23-q24 2014-09-17 ENSG00000118137 ENSG00000118137 335.0 335.0 """Apolipoproteins""" 600.0 protein-coding gene gene with protein product 107680.0 Standard NM_000039 NM_000039 Approved uc001ppv.1 P02647 OTTHUMG00000046112 ENST00000375329.2:c.634G>A 11.__UNKNOWN__:g.116706628C>T ENSP00000364478:p.Ala212Thr A8K866|Q6LDN9|Q6Q785|Q9UCS8|Q9UCT8 __UNKNOWN__ . . . . . . . . . . C 8.948 0.967438 0.18659 . . ENSG00000118137 ENST00000375320;ENST00000359492;ENST00000375329;ENST00000375323;ENST00000236850 T;T;T;T;T 0.73152 -0.72;-0.72;-0.72;-0.72;-0.72 4.78 -0.0197 0.13958 . 0.849622 0.09829 U 0.750468 T 0.59390 0.2190 L 0.52364 1.645 0.09310 N 1 B 0.23891 0.093 B 0.19148 0.024 T 0.43782 -0.9370 10 0.25751 T 0.34 -14.8559 7.1552 0.25632 0.0:0.229:0.5581:0.213 . 234 P02647 APOA1_HUMAN T 234;234;212;234;234 ENSP00000364469:A234T;ENSP00000352471:A234T;ENSP00000364478:A212T;ENSP00000364472:A234T;ENSP00000236850:A234T ENSP00000236850:A234T A - 1 0 APOA1 116211838 0.000000 0.05858 0.014000 0.15608 0.420000 0.31355 0.029000 0.13666 0.147000 0.19030 -0.264000 0.10439 GCG APOA1-005 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000142225.4 - ENST00000375329.2 Missense_Mutation SNP PCPG-TCGA-QR-A6H0-Normal-SM-5EQFJ LCA5 167691 broad.mit.edu 37 6 80201370 80201370 + Missense_Mutation SNP G G A TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr6:80201370G>A ENST00000392959.1 - 7.0 1644 c.1033C>T c.(1033-1035)Cct>Tct p.P345S LCA5_ENST00000467898.3_Missense_Mutation_p.P345S|LCA5_ENST00000369846.4_Missense_Mutation_p.P345S NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 345.0 intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031) cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) protein complex binding (GO:0032403) haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32.0 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) GGAGTTAAAGGATATTCTTCT 0.373 0 219.0 206.0 211.0 6 80201370.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS4990.1 6q14 2014-01-28 ENSG00000135338 ENSG00000135338 167691.0 167691.0 31923.0 protein-coding gene gene with protein product """lebercilin""" 611408.0 """chromosome 6 open reading frame 152""" C6orf152 10631161, 17546029 Standard NM_181714 NM_181714 Approved uc003pix.3 Q86VQ0 OTTHUMG00000015080 ENST00000392959.1:c.1033C>T 6.__UNKNOWN__:g.80201370G>A ENSP00000376686:p.Pro345Ser E1P542|Q9BWX7 __UNKNOWN__ CCDS4990.1 . . . . . . . . . . G 4.324 0.059431 0.08339 . . ENSG00000135338 ENST00000369846;ENST00000392959 T;T 0.42131 0.98;0.98 5.11 0.893 0.19236 . 0.411149 0.26227 N 0.025586 T 0.19725 0.0474 M 0.61703 1.905 0.09310 N 0.999997 P 0.34724 0.465 B 0.37198 0.243 T 0.12578 -1.0542 10 0.45353 T 0.12 -0.418 7.5233 0.27641 0.4027:0.0:0.5973:0.0 . 345 Q86VQ0 LCA5_HUMAN S 345 ENSP00000358861:P345S;ENSP00000376686:P345S ENSP00000358861:P345S P - 1 0 LCA5 80258089 0.613000 0.27009 0.011000 0.14972 0.002000 0.02628 1.281000 0.33214 0.032000 0.15435 -0.229000 0.12294 CCT LCA5-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259269.1 - ENST00000392959.1 Missense_Mutation SNP PCPG-TCGA-QR-A6H0-Normal-SM-5EQFJ MED12L 116931 broad.mit.edu 37 3 151067935 151067935 + Missense_Mutation SNP A A C TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr3:151067935A>C ENST00000474524.1 + 15.0 2272 c.2234A>C c.(2233-2235)aAg>aCg p.K745T MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.K605T NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 745.0 mediator complex (GO:0016592) RNA polymerase II transcription cofactor activity (GO:0001104) 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) 128.0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CATCAGCTGAAGAAGATTACC 0.418 0 154.0 159.0 157.0 3 151067935.0 2203.0 4300.0 6503.0 SO:0001583 missense AB046855, AF388364 CCDS33876.1 3q25.1 2007-07-30 2007-07-30 ENSG00000144893 ENSG00000144893 116931.0 116931.0 16050.0 protein-coding gene gene with protein product 611318.0 """mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like""" 11524702 Standard NM_053002 XM_006713487 Approved KIAA1635, TNRC11L, TRALPUSH, TRALP uc003eyp.3 Q86YW9 OTTHUMG00000159844 ENST00000474524.1:c.2234A>C 3.__UNKNOWN__:g.151067935A>C ENSP00000417235:p.Lys745Thr Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69 __UNKNOWN__ CCDS33876.1 . . . . . . . . . . A 17.41 3.383166 0.61845 . . ENSG00000144893 ENST00000474524;ENST00000273432 T;T 0.69561 -0.23;-0.41 5.81 4.62 0.57501 . 0.000000 0.85682 D 0.000000 T 0.75910 0.3914 L 0.52126 1.63 0.80722 D 1 D;B 0.69078 0.997;0.384 D;B 0.71184 0.972;0.159 T 0.77305 -0.2637 10 0.87932 D 0 -29.2242 12.5486 0.56214 0.8606:0.1394:0.0:0.0 . 605;745 F8WAE6;Q86YW9 .;MD12L_HUMAN T 745;605 ENSP00000417235:K745T;ENSP00000273432:K605T ENSP00000273432:K605T K + 2 0 MED12L 152550625 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 6.693000 0.74582 0.979000 0.38497 0.455000 0.32223 AAG MED12L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000357707.2 + ENST00000474524.1 Missense_Mutation SNP PCPG-TCGA-QR-A6H0-Normal-SM-5EQFJ CROCC 9696 ucsc.edu 37 1 17257885 17257885 + Missense_Mutation SNP A A G TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr1:17257885A>G ENST00000375541.5 + 8.0 1018 c.949A>G c.(949-951)Act>Gct p.T317A CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 ciliary rootlet coiled-coil, rootletin 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) 62.0 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) GAAGATGTTCACTGAGAGGTG 0.592 0 76.0 65.0 69.0 1 17257885.0 2203.0 4300.0 6503.0 SO:0001583 missense AB007914 CCDS30616.1 1p36.13 2010-06-04 2009-03-04 2009-03-04 ENSG00000058453 ENSG00000058453 9696.0 9696.0 21299.0 protein-coding gene gene with protein product """rootletin, ciliary rootlet protein""" 615776 12427867, 17971504 Standard NM_014675 XM_006711056 Approved rootletin, ROLT uc001azt.2 Q5TZA2 OTTHUMG00000002200 ENST00000375541.5:c.949A>G 1.__UNKNOWN__:g.17257885A>G ENSP00000364691:p.Thr317Ala __UNKNOWN__ CCDS30616.1 . . . . . . . . . . A 11.14 1.549825 0.27652 . . ENSG00000058453 ENST00000375541;ENST00000445545 T 0.19938 2.11 4.6 4.6 0.57074 . . . . . T 0.26304 0.0642 L 0.49455 1.56 0.41867 D 0.990255 P;P 0.46784 0.875;0.884 P;B 0.47118 0.538;0.292 T 0.01977 -1.1236 9 0.34782 T 0.22 . 13.2402 0.59992 1.0:0.0:0.0:0.0 . 180;317 A1L0S8;Q5TZA2 .;CROCC_HUMAN A 317;198 ENSP00000364691:T317A ENSP00000364691:T317A T + 1 0 CROCC 17130472 1.000000 0.71417 0.619000 0.29118 0.238000 0.25445 5.285000 0.65633 2.048000 0.60808 0.459000 0.35465 ACT CROCC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000006249.2 + ENST00000375541.5 Missense_Mutation SNP PCPG-TCGA-QR-A6H0-Normal-SM-5EQFJ LIMCH1 22998 ucsc.edu 37 4 41621423 41621423 + Missense_Mutation SNP G G A TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr4:41621423G>A ENST00000514096.1 + 3.0 680 c.460G>A c.(460-462)Gcc>Acc p.A154T LIMCH1_ENST00000512820.1_Missense_Mutation_p.A301T|LIMCH1_ENST00000503057.1_Missense_Mutation_p.A142T|LIMCH1_ENST00000511496.1_Missense_Mutation_p.A142T|LIMCH1_ENST00000313860.7_Missense_Mutation_p.A301T|LIMCH1_ENST00000381753.4_Missense_Mutation_p.A147T|LIMCH1_ENST00000513024.1_Missense_Mutation_p.A142T|LIMCH1_ENST00000509454.1_Missense_Mutation_p.A149T|LIMCH1_ENST00000509638.1_Missense_Mutation_p.A142T|LIMCH1_ENST00000508501.1_Missense_Mutation_p.A301T|LIMCH1_ENST00000512632.1_Missense_Mutation_p.A301T|LIMCH1_ENST00000512946.1_Missense_Mutation_p.A301T|LIMCH1_ENST00000509277.1_Missense_Mutation_p.A147T|LIMCH1_ENST00000396595.3_Missense_Mutation_p.A147T Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 301.0 actomyosin structure organization (GO:0031032) zinc ion binding (GO:0008270) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41.0 CTGGAGTACCGCCACCTCCCC 0.602 0 42.0 44.0 43.0 4 41621423.0 2203.0 4300.0 6503.0 SO:0001583 missense AB029025 CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1 4p13 2007-06-14 2008-01-09 ENSG00000064042 ENSG00000064042 22998.0 22998.0 29191.0 protein-coding gene gene with protein product 10470851 Standard NM_014988 XM_005248057 Approved DKFZP686A01247, LIMCH1A, LMO7B uc003gvz.4 Q9UPQ0 OTTHUMG00000160575 ENST00000514096.1:c.460G>A 4.__UNKNOWN__:g.41621423G>A ENSP00000426334:p.Ala154Thr A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2 __UNKNOWN__ . . . . . . . . . . G 20.4 3.977531 0.74360 . . ENSG00000064042 ENST00000513024;ENST00000509638;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000509454;ENST00000396595;ENST00000381753 T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.50548 0.91;0.9;1.35;1.35;1.35;0.91;1.42;0.9;0.74;0.75;0.91;0.9;0.91;0.75 5.74 5.74 0.90152 . 0.150260 0.64402 D 0.000014 T 0.67173 0.2865 L 0.54323 1.7 0.46823 D 0.999212 D;P;D;P;P;P;D;P;D;D;D;D 0.89917 0.998;0.835;0.99;0.898;0.898;0.951;1.0;0.94;0.991;0.972;0.984;0.972 P;B;P;B;B;B;D;P;P;P;P;P 0.83275 0.884;0.21;0.636;0.378;0.378;0.371;0.996;0.564;0.837;0.461;0.662;0.517 T 0.65965 -0.6040 10 0.62326 D 0.03 -16.8474 20.2982 0.98569 0.0:0.0:1.0:0.0 . 52;147;301;147;147;149;142;142;301;301;301;301 B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;Q6NVB9;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0 .;.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN T 142;142;301;301;301;301;301;142;142;141;154;147;149;147;147 ENSP00000425222:A142T;ENSP00000427311:A142T;ENSP00000424825:A301T;ENSP00000424645:A301T;ENSP00000316891:A301T;ENSP00000427045:A301T;ENSP00000424437:A301T;ENSP00000425631:A142T;ENSP00000421242:A142T;ENSP00000426334:A154T;ENSP00000422864:A147T;ENSP00000423355:A149T;ENSP00000379840:A147T;ENSP00000371172:A147T ENSP00000316891:A301T A + 1 0 LIMCH1 41316180 1.000000 0.71417 0.974000 0.42286 0.205000 0.24178 7.351000 0.79395 2.873000 0.98535 0.563000 0.77884 GCC LIMCH1-014 NOVEL alternative_5_UTR|basic|exp_conf protein_coding protein_coding OTTHUMT00000361261.1 + ENST00000514096.1 Missense_Mutation SNP PCPG-TCGA-QR-A6H0-Normal-SM-5EQFJ PGAP2 27315 ucsc.edu 37 11 3832578 3832578 + Missense_Mutation SNP C C A TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr11:3832578C>A ENST00000493547.2 + 3.0 167 c.89C>A c.(88-90)cCa>cAa p.P30Q PGAP2_ENST00000278243.4_Missense_Mutation_p.P30Q|PGAP2_ENST00000300730.6_Missense_Mutation_p.P87Q|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000396986.2_Missense_Mutation_p.P87Q|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000396991.2_Missense_Mutation_p.P30Q|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000463452.2_Missense_Mutation_p.P30Q NM_001256238.1 NP_001243167.1 Q9UHJ9 PGAP2_HUMAN post-GPI attachment to proteins 2 30.0 GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770) endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) protein transporter activity (GO:0008565) NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11.0 GTCTGCTGTCCACTTGTCGCC 0.592 0 181.0 102.0 129.0 11 3832578.0 2201.0 4298.0 6499.0 SO:0001583 missense AF159615 CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1 11p15.4 2014-01-31 ENSG00000148985 ENSG00000148985 27315.0 27315.0 17893.0 protein-coding gene gene with protein product """FGF receptor activating protein 1"", ""cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)""" 615187 """mental retardation, non-syndromic, autosomal recessive, 21""" MRT21 10585768, 16407401, 23561846 Standard NM_014489 Approved FRAG1, CWH43-N uc010qxw.3 Q9UHJ9 OTTHUMG00000012238 ENST00000493547.2:c.89C>A 11.__UNKNOWN__:g.3832578C>A ENSP00000431851:p.Pro30Gln E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1 __UNKNOWN__ CCDS58113.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 23.5|23.5 4.427703|4.427703 0.83667|0.83667 .|. .|. ENSG00000148985|ENSG00000148985 ENST00000459679;ENST00000464906|ENST00000396986;ENST00000300730;ENST00000532535;ENST00000396991;ENST00000464261;ENST00000493547;ENST00000278243;ENST00000463452;ENST00000469307 .|T;T;T;T;T;T .|0.46063 .|0.88;0.88;0.88;0.88;0.88;0.88 5.83|5.83 5.83|5.83 0.93111|0.93111 .|. .|0.000000 .|0.85682 .|D .|0.000000 T|T 0.68540|0.68540 0.3012|0.3012 M|M 0.83223|0.83223 2.63|2.63 0.37096|0.37096 D|D 0.899684|0.899684 B|D;D;D;D 0.28128|0.89917 0.201|1.0;1.0;1.0;1.0 B|D;D;D;D 0.18871|0.91635 0.023|0.993;0.988;0.99;0.999 T|T 0.75878|0.75878 -0.3162|-0.3162 7|10 .|0.87932 .|D .|0 -4.5769|-4.5769 16.8567|16.8567 0.86008|0.86008 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 20|87;30;30;30 B7Z7G6|A8MYS5;Q9UHJ9-3;Q9UHJ9;E9PJG5 .|.;.;PGAP2_HUMAN;. N|Q 61;60|87;87;69;30;60;30;30;30;30 .|ENSP00000380183:P87Q;ENSP00000300730:P87Q;ENSP00000434088:P60Q;ENSP00000431851:P30Q;ENSP00000435223:P30Q;ENSP00000434507:P30Q .|ENSP00000278243:P30Q H|P +|+ 1|2 0|0 PGAP2|PGAP2 3789154|3789154 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.993000|0.993000 0.82548|0.82548 3.750000|3.750000 0.55157|0.55157 2.763000|2.763000 0.94921|0.94921 0.563000|0.563000 0.77884|0.77884 CAC|CCA PGAP2-015 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000033999.3 + ENST00000493547.2 Missense_Mutation SNP PCPG-TCGA-QR-A6H0-Normal-SM-5EQFJ TBC1D13 54662 ucsc.edu 37 9 131553944 131553944 + Missense_Mutation SNP C C A TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr9:131553944C>A ENST00000372648.5 + 5.0 422 c.272C>A c.(271-273)tCc>tAc p.S91Y TBC1D13_ENST00000223865.8_Missense_Mutation_p.S91Y|TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000539497.1_Intron NM_018201.3 NP_060671.3 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 91.0 Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}. Rab GTPase activator activity (GO:0005097) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6.0 ATGGGTGTGTCCAGGGAGGAT 0.557 0 106.0 92.0 97.0 9 131553944.0 2203.0 4300.0 6503.0 SO:0001583 missense AK001605 CCDS6911.1, CCDS69677.1 9q34.13 2013-07-09 ENSG00000107021 ENSG00000107021 54662.0 54662.0 25571.0 protein-coding gene gene with protein product 22762500 Standard NM_018201 XM_005252060 Approved FLJ10743 uc010myj.3 Q9NVG8 OTTHUMG00000020760 ENST00000372648.5:c.272C>A 9.__UNKNOWN__:g.131553944C>A ENSP00000361731:p.Ser91Tyr A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271 __UNKNOWN__ CCDS6911.1 . . . . . . . . . . C 19.84 3.902587 0.72754 . . ENSG00000107021 ENST00000372648;ENST00000223865 T;T 0.47528 0.84;0.84 5.21 4.3 0.51218 Rab-GAP/TBC domain (3); 0.058535 0.64402 D 0.000001 T 0.58652 0.2137 M 0.64404 1.975 0.80722 D 1 D;D 0.64830 0.994;0.988 D;P 0.64877 0.93;0.758 T 0.57335 -0.7829 10 0.08381 T 0.77 -21.5786 13.2954 0.60294 0.0:0.9221:0.0:0.0779 . 91;91 Q9NVG8-2;Q9NVG8 .;TBC13_HUMAN Y 91 ENSP00000361731:S91Y;ENSP00000223865:S91Y ENSP00000223865:S91Y S + 2 0 TBC1D13 130593765 1.000000 0.71417 0.995000 0.50966 0.990000 0.78478 3.814000 0.55643 1.156000 0.42514 0.462000 0.41574 TCC TBC1D13-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054496.1 + ENST00000372648.5 Missense_Mutation SNP PCPG-TCGA-QR-A6H0-Normal-SM-5EQFJ PLP1 5354 broad.mit.edu 37 X 103040511 103040511 + Splice_Site SNP G G A TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chrX:103040511G>A ENST00000303958.2 + 2.0 151 c.5G>A c.(4-6)gGc>gAc p.G2D PLP1_ENST00000418604.1_Splice_Site_p.G2D|PLP1_ENST00000361621.2_Splice_Site_p.G2D NM_000533.3 NP_000524.3 P60201 MYPR_HUMAN proteolipid protein 1 2.0 astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268) integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886) structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198) breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 17.0 TCTTCCCCAGGCTTGTTAGAG 0.562 0 170.0 164.0 166.0 X 103040511.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant M27110 CCDS14513.1, CCDS14514.1 Xq22 2013-05-14 2008-07-28 ENSG00000123560 ENSG00000123560 5354.0 5354.0 9086.0 protein-coding gene gene with protein product """Pelizaeus-Merzbacher disease""" 300401.0 """spastic paraplegia 2, uncomplicated""" SPG2, PLP Standard NM_001128834 Approved GPM6C uc004elk.3 P60201 OTTHUMG00000022111 ENST00000303958.2:c.5-1G>A X.__UNKNOWN__:g.103040511G>A P04400|P06905|Q502Y1|Q6FHZ6 __UNKNOWN__ CCDS14513.1 . . . . . . . . . . G 25.6 4.655077 0.88056 . . ENSG00000123560 ENST00000434483;ENST00000429977;ENST00000455268;ENST00000422393;ENST00000433491;ENST00000418604;ENST00000443502;ENST00000303958;ENST00000361621;ENST00000428755 D;D;D;D;D;D;D;D;D 0.99719 -6.52;-6.52;-6.52;-6.52;-6.52;-6.52;-6.52;-6.52;-6.52 5.46 5.46 0.80206 . 0.000000 0.85682 D 0.000000 D 0.99548 0.9838 M 0.62088 1.915 0.80722 D 1 D;D 0.89917 1.0;0.999 D;D 0.91635 0.999;0.982 D 0.98487 1.0608 9 . . . . 15.5899 0.76521 0.0:0.0:1.0:0.0 . 2;2 P60201;P60201-2 MYPR_HUMAN;. D 2 ENSP00000403335:G2D;ENSP00000399913:G2D;ENSP00000409802:G2D;ENSP00000413931:G2D;ENSP00000393391:G2D;ENSP00000405750:G2D;ENSP00000391853:G2D;ENSP00000305152:G2D;ENSP00000354860:G2D . G + 2 0 PLP1 102927167 1.000000 0.71417 0.973000 0.42090 0.953000 0.61014 9.410000 0.97335 2.275000 0.75901 0.600000 0.82982 GGC PLP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057743.2 Missense_Mutation + ENST00000303958.2 Splice_Site SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC AHNAK 79026 broad.mit.edu 37 11 62295869 62295869 + Missense_Mutation SNP A A T TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr11:62295869A>T ENST00000378024.4 - 5.0 6294 c.6020T>A c.(6019-6021)aTg>aAg p.M2007K AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2007.0 protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385) actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982) poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493) 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) 268.0 Melanoma(852;0.155) AGACACATCCATATCCCCTTT 0.483 0 347.0 349.0 348.0 11 62295869.0 2202.0 4299.0 6501.0 SO:0001583 missense M80899 CCDS31584.1, CCDS44625.1 11q12-q13 2008-02-05 2007-03-30 ENSG00000124942 ENSG00000124942 79026.0 79026.0 347.0 protein-coding gene gene with protein product """desmoyokin""" 103390.0 """AHNAK nucleoprotein (desmoyokin)""" 7987395, 12153988 Standard NM_024060 NM_024060 Approved MGC5395 uc001ntl.3 Q09666 OTTHUMG00000167558 ENST00000378024.4:c.6020T>A 11.__UNKNOWN__:g.62295869A>T ENSP00000367263:p.Met2007Lys A1A586 __UNKNOWN__ CCDS31584.1 . . . . . . . . . . a 8.776 0.927168 0.18056 . . ENSG00000124942 ENST00000244934;ENST00000378024 T 0.00940 5.52 3.45 2.28 0.28536 . 0.799354 0.10222 N 0.700743 T 0.01421 0.0046 L 0.54323 1.7 0.09310 N 1 B 0.32425 0.371 B 0.31869 0.137 T 0.46205 -0.9208 10 0.87932 D 0 . 7.2991 0.26409 0.8034:0.0:0.0:0.1966 . 2007 Q09666 AHNK_HUMAN K 96;2007 ENSP00000367263:M2007K ENSP00000244934:M96K M - 2 0 AHNAK 62052445 0.000000 0.05858 0.001000 0.08648 0.663000 0.39108 0.283000 0.18846 0.232000 0.21100 0.248000 0.18094 ATG AHNAK-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000395572.1 - ENST00000378024.4 Missense_Mutation SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC COG2 22796 broad.mit.edu 37 1 230825896 230825896 + Missense_Mutation SNP A A G TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr1:230825896A>G ENST00000366669.4 + 16.0 2046 c.1931A>G c.(1930-1932)cAt>cGt p.H644R COG2_ENST00000490900.1_3'UTR|COG2_ENST00000546013.1_Missense_Mutation_p.H333R|COG2_ENST00000534989.1_Missense_Mutation_p.H585R|COG2_ENST00000366668.3_Missense_Mutation_p.H643R|COG2_ENST00000535166.1_Missense_Mutation_p.H528R NM_001145036.1|NM_007357.2 NP_001138508.1|NP_031383.1 Q14746 COG2_HUMAN component of oligomeric golgi complex 2 644.0 Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486) cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119) protein transporter activity (GO:0008565) NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3) 27.0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) GAAAGCACTCATAAGTAAGTA 0.473 0 77.0 77.0 77.0 1 230825896.0 2203.0 4300.0 6503.0 SO:0001583 missense Z34975 CCDS1584.1, CCDS44329.1 1q42.2 2008-02-05 2002-05-28 2002-05-31 ENSG00000135775 ENSG00000135775 22796.0 22796.0 """Components of oligomeric golgi complex""" 6546.0 protein-coding gene gene with protein product 606974.0 """low density lipoprotein receptor defect C complementing""" LDLC 7962052 Standard NM_007357 NM_007357 Approved uc001htw.3 Q14746 OTTHUMG00000037753 ENST00000366669.4:c.1931A>G 1.__UNKNOWN__:g.230825896A>G ENSP00000355629:p.His644Arg Q86U99 __UNKNOWN__ CCDS1584.1 . . . . . . . . . . A 6.848 0.525659 0.13066 . . ENSG00000135775 ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013 T;T;T;T;T 0.41758 0.99;0.99;0.99;0.99;0.99 5.91 4.8 0.61643 COG complex component, COG2, C-terminal (1); 0.286853 0.45867 D 0.000335 T 0.29850 0.0746 L 0.40543 1.245 0.45704 D 0.998618 B;B 0.13594 0.008;0.001 B;B 0.11329 0.006;0.006 T 0.10965 -1.0607 10 0.19590 T 0.45 -24.5155 7.4743 0.27368 0.7849:0.1438:0.0713:0.0 . 643;644 Q86U99;Q14746 .;COG2_HUMAN R 644;528;643;585;333 ENSP00000355629:H644R;ENSP00000445724:H528R;ENSP00000355628:H643R;ENSP00000440349:H585R;ENSP00000442147:H333R ENSP00000355628:H643R H + 2 0 COG2 228892519 0.997000 0.39634 0.960000 0.40013 0.076000 0.17211 4.592000 0.61027 2.266000 0.75297 0.533000 0.62120 CAT COG2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000092087.1 + ENST00000366669.4 Missense_Mutation SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC XDH 7498 broad.mit.edu 37 2 31628832 31628832 + Splice_Site SNP T T C TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr2:31628832T>C ENST00000379416.3 - 2.0 91 c.e2-2 NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115) cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777) 2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855) 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) 74.0 Acute lymphoblastic leukemia(172;0.155) Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831) CTCCACCACCTATTAAAATAA 0.383 Colon(66;682 1445 30109 40147) 0 94.0 90.0 91.0 2 31628832.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant D11456 CCDS1775.1 2p23.1 2009-07-10 2003-03-20 ENSG00000158125 ENSG00000158125 7498.0 7498.0 1.17.1.4 12805.0 protein-coding gene gene with protein product 607633.0 """xanthene dehydrogenase""" 8224915 Standard NM_000379 NM_000379 Approved XOR, XO uc002rnv.1 P47989 OTTHUMG00000099385 ENST00000379416.3:c.43-2A>G 2.__UNKNOWN__:g.31628832T>C Q16681|Q16712|Q4PJ16 __UNKNOWN__ CCDS1775.1 . . . . . . . . . . T 17.71 3.456614 0.63401 . . ENSG00000158125 ENST00000379416 . . . 5.77 5.77 0.91146 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 14.0379 0.64656 0.0:0.0:0.0:1.0 . . . . . -1 . . . - . . XDH 31482336 1.000000 0.71417 0.932000 0.37286 0.728000 0.41692 6.726000 0.74758 2.194000 0.70268 0.379000 0.24179 . XDH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000216840.1 Intron - ENST00000379416.3 Splice_Site SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC PCDHA10 0 broad.mit.edu 37 5 140236490 140236490 + Missense_Mutation SNP C C T TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr5:140236490C>T ENST00000307360.5 + 1.0 857 c.857C>T c.(856-858)cCc>cTc p.P286L PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.P286L|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018901.2 NP_061724.1 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 286.0 Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}. cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) calcium ion binding (GO:0005509) 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) 79.0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGGTCCCACCCACGATAAGA 0.358 0 71.0 71.0 71.0 5 140236490.0 2196.0 4268.0 6464.0 SO:0001583 missense AF152475 CCDS34255.1, CCDS54921.1, CCDS75325.1 5q31 2010-11-26 ENSG00000250120 ENSG00000250120 56139.0 56139.0 """Cadherins / Protocadherins : Clustered""" 8664.0 other complex locus constituent """KIAA0345-like 4"", ""ortholog to mouse CNR8""" 606316.0 CNRS8 10380929 Standard NM_018901 NM_018901 Approved CNR8, CRNR8, CNRN8, PCDH-ALPHA10 Q9Y5I2 OTTHUMG00000163372 ENST00000307360.5:c.857C>T 5.__UNKNOWN__:g.140236490C>T ENSP00000304234:p.Pro286Leu A1L493|O75280|Q9NRU2 __UNKNOWN__ CCDS54921.1 . . . . . . . . . . C 0.352 -0.944440 0.02304 . . ENSG00000250120 ENST00000506939;ENST00000307360 T;T 0.61510 0.1;0.1 4.29 2.46 0.29980 Cadherin (4);Cadherin-like (1); . . . . T 0.47563 0.1452 L 0.56396 1.775 0.09310 N 1 B;B;B 0.18741 0.019;0.03;0.0 B;B;B 0.21917 0.037;0.033;0.005 T 0.39187 -0.9626 9 0.30078 T 0.28 . 2.6923 0.05124 0.2877:0.394:0.2283:0.09 . 286;286;286 Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2 .;PCDAA_HUMAN;. L 286 ENSP00000421030:P286L;ENSP00000304234:P286L ENSP00000304234:P286L P + 2 0 PCDHA10 140216674 0.000000 0.05858 0.000000 0.03702 0.330000 0.28571 -2.324000 0.01116 0.534000 0.28695 0.561000 0.74099 CCC PCDHA10-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000372895.2 + ENST00000307360.5 Missense_Mutation SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC SMC6 79677 broad.mit.edu 37 2 17883154 17883154 + Missense_Mutation SNP G G A TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr2:17883154G>A ENST00000448223.2 - 20.0 2434 c.2165C>T c.(2164-2166)tCt>tTt p.S722F SMC6_ENST00000402989.1_Missense_Mutation_p.S722F|SMC6_ENST00000381272.4_Missense_Mutation_p.S748F|SMC6_ENST00000351948.4_Missense_Mutation_p.S722F NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 722.0 cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722) chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915) ATP binding (GO:0005524) NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43.0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CCGAATTTCAGAAATATTTTT 0.249 0 37.0 37.0 37.0 2 17883154.0 2195.0 4286.0 6481.0 SO:0001583 missense AJ310551 CCDS1690.1 2p24.3 2008-02-05 2006-07-06 2006-07-06 ENSG00000163029 ENSG00000163029 79677.0 79677.0 """Structural maintenance of chromosomes proteins""" 20466.0 protein-coding gene gene with protein product 609387.0 """SMC6 structural maintenance of chromosomes 6-like 1 (yeast)""" SMC6L1 11230166 Standard NM_024624 NM_024624 Approved FLJ22116 uc002rcn.3 Q96SB8 OTTHUMG00000090675 ENST00000448223.2:c.2165C>T 2.__UNKNOWN__:g.17883154G>A ENSP00000404092:p.Ser722Phe A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0 __UNKNOWN__ CCDS1690.1 . . . . . . . . . . G 13.78 2.339736 0.41398 . . ENSG00000163029 ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989 T;T;T;T 0.32023 1.47;1.47;1.47;1.47 5.17 4.27 0.50696 RecF/RecN/SMC (1); 0.522298 0.21488 N 0.073730 T 0.19127 0.0459 N 0.08118 0 0.28377 N 0.919737 P;P 0.41214 0.557;0.742 B;B 0.43536 0.359;0.423 T 0.05037 -1.0910 10 0.51188 T 0.08 . 10.2774 0.43519 0.1528:0.0:0.8472:0.0 . 748;722 Q96SB8-2;Q96SB8 .;SMC6_HUMAN F 722;722;748;722 ENSP00000404092:S722F;ENSP00000323439:S722F;ENSP00000370672:S748F;ENSP00000384539:S722F ENSP00000323439:S722F S - 2 0 SMC6 17746635 0.318000 0.24598 0.996000 0.52242 0.960000 0.62799 1.736000 0.38187 2.565000 0.86533 0.585000 0.79938 TCT SMC6-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207359.1 - ENST00000448223.2 Missense_Mutation SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC ZNF462 58499 broad.mit.edu 37 9 109688235 109688235 + Missense_Mutation SNP A A G TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr9:109688235A>G ENST00000277225.5 + 3.0 2331 c.2042A>G c.(2041-2043)aAt>aGt p.N681S ZNF462_ENST00000457913.1_Missense_Mutation_p.N681S Q96JM2 ZN462_HUMAN zinc finger protein 462 681.0 chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) 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) 119.0 AAGCTCGCCAATGACTTTCCT 0.448 0 186.0 191.0 190.0 9 109688235.0 2203.0 4300.0 6503.0 SO:0001583 missense AB058706 CCDS35096.1 9q31.3 2008-02-05 ENSG00000148143 ENSG00000148143 58499.0 58499.0 """Zinc fingers, C2H2-type""" 21684.0 protein-coding gene gene with protein product Standard NM_021224 NM_021224 Approved DKFZP762N2316, KIAA1803, Zfp462 uc004bcz.3 Q96JM2 OTTHUMG00000020438 ENST00000277225.5:c.2042A>G 9.__UNKNOWN__:g.109688235A>G ENSP00000277225:p.Asn681Ser Q5T0T4|Q8N408 __UNKNOWN__ CCDS35096.1 . . . . . . . . . . A 8.970 0.972659 0.18736 . . ENSG00000148143 ENST00000277225;ENST00000457913 T;T 0.07688 3.17;3.61 5.87 0.839 0.18907 . 0.132003 0.64402 N 0.000002 T 0.05502 0.0145 L 0.29908 0.895 0.80722 D 1 B;B 0.26081 0.141;0.001 B;B 0.22753 0.041;0.003 T 0.45071 -0.9286 9 . . . . 8.9195 0.35604 0.723:0.0:0.277:0.0 . 681;681 Q96JM2-3;Q96JM2 .;ZN462_HUMAN S 681 ENSP00000277225:N681S;ENSP00000414570:N681S . N + 2 0 ZNF462 108728056 1.000000 0.71417 0.957000 0.39632 0.928000 0.56348 4.956000 0.63645 -0.088000 0.12506 -0.256000 0.11100 AAT ZNF462-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000053532.2 + ENST00000277225.5 Missense_Mutation SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC EVC 2121 broad.mit.edu 37 4 5720980 5720980 + Silent SNP C C T TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr4:5720980C>T ENST00000509451.1 + 2.0 346 c.180C>T c.(178-180)gaC>gaT p.D60D EVC_ENST00000264956.6_Silent_p.D60D|EVC_ENST00000382674.2_Silent_p.D60D P57679 EVC_HUMAN Ellis van Creveld syndrome 60.0 cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224) ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28.0 Myeloproliferative disorder(84;0.117) TTTAGAAAGACGACACTCAAA 0.522 0 145.0 153.0 151.0 4 5720980.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF216184 CCDS3383.1 4p16 2008-07-03 ENSG00000072840 ENSG00000072840 2121.0 2121.0 3497.0 protein-coding gene gene with protein product 604831.0 10700184 Standard NM_153717 Approved DWF-1 uc003gil.1 P57679 OTTHUMG00000090427 ENST00000509451.1:c.180C>T 4.__UNKNOWN__:g.5720980C>T __UNKNOWN__ EVC-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000358875.1 + ENST00000509451.1 Silent SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC COX15 1355 broad.mit.edu 37 10 101473220 101473220 + Missense_Mutation SNP T T C TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr10:101473220T>C ENST00000370483.5 - 9.0 1168 c.1118A>G c.(1117-1119)aAc>aGc p.N373S 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) 0.0 cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739) cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627) endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13.0 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) aaaagtaaagttgaataagac 0.358 0 74.0 71.0 72.0 10 101473220.0 2203.0 4300.0 6503.0 SO:0001583 missense AF044323 CCDS7481.1, CCDS7482.1 10q24 2014-09-17 2012-10-15 ENSG00000014919 ENSG00000014919 1355.0 1355.0 """Mitochondrial respiratory chain complex assembly factors""" 2263.0 protein-coding gene gene with protein product 603646.0 """COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)""" 9878253 Standard NP_510870 NM_078470 Approved uc001kqb.4 Q7KZN9 OTTHUMG00000018893 ENST00000370483.5:c.1118A>G 10.__UNKNOWN__:g.101473220T>C ENSP00000359514:p.Asn373Ser A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0 __UNKNOWN__ CCDS7481.1 . . . . . . . . . . T 1.000 -0.691161 0.03303 . . ENSG00000014919 ENST00000370483 . . . 2.13 -0.445 0.12242 . . . . . T 0.17534 0.0421 . . . 0.09310 N 1 B 0.19706 0.038 B 0.12837 0.008 T 0.23440 -1.0188 7 0.22706 T 0.39 . 2.5153 0.04667 0.0:0.1791:0.2915:0.5294 . 373 Q7KZN9-2 . S 373 . ENSP00000359514:N373S N - 2 0 COX15 101463210 0.000000 0.05858 0.001000 0.08648 0.501000 0.33797 -0.402000 0.07223 -0.112000 0.11979 0.459000 0.35465 AAC COX15-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000049819.1 - ENST00000370483.5 Missense_Mutation SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC FCAR 2204 broad.mit.edu 37 19 55401054 55401054 + Missense_Mutation SNP G G A TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr19:55401054G>A ENST00000355524.3 + 5.0 699 c.689G>A c.(688-690)cGc>cAc p.R230H FCAR_ENST00000345937.4_Missense_Mutation_p.R134H|FCAR_ENST00000353758.4_Missense_Mutation_p.R121H|FCAR_ENST00000391724.3_Missense_Mutation_p.R196H|FCAR_ENST00000391725.3_Missense_Mutation_p.R208H|FCAR_ENST00000359272.4_Missense_Mutation_p.R218H|FCAR_ENST00000391723.3_Silent_p.P193P|FCAR_ENST00000391726.3_Missense_Mutation_p.R122H|FCAR_ENST00000482092.2_3'UTR NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 230.0 immune response (GO:0006955) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) p.R230H(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24.0 GBM - Glioblastoma multiforme(193;0.0443) AACTTGATCCGCATGGCCGTG 0.532 1 Substitution - Missense(1) lung(1) G HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,,HIS/ARG,HIS/ARG 0,4406 0,0,2203 331.0 324.0 326.0 689,623,401,653,365,579,362,587 1.6 0.0 19 326.0 2,8598 2.2+/-6.3 0,2,4298 no missense,missense,missense,missense,missense,coding-synonymous,missense,missense FCAR NM_002000.2,NM_133269.2,NM_133271.2,NM_133272.2,NM_133273.2,NM_133274.2,NM_133277.2,NM_133278.2 29,29,29,29,29,,29,29 0,2,6501 AA,AG,GG 0.0233,0.0,0.0154 probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging,probably-damaging 230/288,208/266,134/192,218/276,122/180,193/210,121/179,196/254 55401054.0 2,13004 2203.0 4300.0 6503.0 SO:0001583 missense X54150 CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1 19q13.42 2013-01-29 ENSG00000186431 ENSG00000186431 2204.0 2204.0 """CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 3608.0 protein-coding gene gene with protein product 147045.0 1577457 Standard NM_002000 NM_133269 Approved CD89 uc002qhr.1 P24071 OTTHUMG00000065936 ENST00000355524.3:c.689G>A 19.__UNKNOWN__:g.55401054G>A ENSP00000347714:p.Arg230His Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0 __UNKNOWN__ CCDS12907.1 . . . . . . . . . . G 14.18 2.457348 0.43634 0.0 2.33E-4 ENSG00000186431 ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000353758;ENST00000359272;ENST00000391724 T;T;T;T;T;T;T 0.07021 3.23;6.57;5.7;4.23;6.17;6.46;5.58 3.9 1.58 0.23477 . . . . . T 0.21841 0.0526 . . . 0.09310 N 1 D;D;D;P;D;D;P 0.89917 1.0;1.0;1.0;0.839;1.0;1.0;0.906 D;D;D;B;D;D;B 0.87578 0.998;0.996;0.96;0.265;0.998;0.96;0.442 T 0.05886 -1.0858 8 0.72032 D 0.01 . 5.5752 0.17218 0.2885:0.0:0.7115:0.0 . 121;196;122;218;208;134;230 Q92592;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071 .;.;.;.;.;.;FCAR_HUMAN H 122;230;208;134;121;218;196 ENSP00000375606:R122H;ENSP00000347714:R230H;ENSP00000375605:R208H;ENSP00000338257:R134H;ENSP00000338058:R121H;ENSP00000352218:R218H;ENSP00000375604:R196H ENSP00000338257:R134H R + 2 0 FCAR 60092866 0.033000 0.19621 0.002000 0.10522 0.095000 0.18619 0.647000 0.24812 0.332000 0.23536 0.557000 0.71058 CGC FCAR-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000141243.1 + ENST00000355524.3 Missense_Mutation SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC ZBTB12 221527 broad.mit.edu 37 6 31867708 31867708 + Missense_Mutation SNP G G T TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr6:31867708G>T ENST00000375527.2 - 2.0 1550 c.1375C>A c.(1375-1377)Cgc>Agc p.R459S C2_ENST00000469372.1_Intron NM_181842.2 NP_862825.1 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 459.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1) 10.0 CGCGGCTAGCGGATGAGGACG 0.662 0 27.0 28.0 27.0 6 31867708.0 2157.0 4239.0 6396.0 SO:0001583 missense BC043609 CCDS4727.1 6p21.31 2013-01-08 2004-04-15 2004-04-16 ENSG00000204366 ENSG00000204366 221527.0 221527.0 """-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing""" 19066.0 protein-coding gene gene with protein product """chromosome 6 open reading frame 46""" C6orf46 9545376 Standard NM_181842 NM_181842 Approved G10, NG35, D6S59E uc003nyd.1 Q9Y330 OTTHUMG00000031169 ENST00000375527.2:c.1375C>A 6.__UNKNOWN__:g.31867708G>T ENSP00000364677:p.Arg459Ser B0UY00|Q5JQ98 __UNKNOWN__ CCDS4727.1 . . . . . . . . . . G 15.37 2.812425 0.50527 . . ENSG00000204366 ENST00000375527 T 0.14144 2.53 3.75 3.75 0.43078 . 1.109500 0.06948 U 0.814115 T 0.03739 0.0106 N 0.08118 0 0.32825 D 0.503201 B 0.30634 0.288 B 0.28139 0.086 T 0.24977 -1.0145 10 0.87932 D 0 . 14.3383 0.66606 0.0:0.0:1.0:0.0 . 459 Q9Y330 ZBT12_HUMAN S 459 ENSP00000364677:R459S ENSP00000364677:R459S R - 1 0 ZBTB12 31975687 0.921000 0.31238 1.000000 0.80357 0.964000 0.63967 0.639000 0.24690 1.642000 0.50584 0.313000 0.20887 CGC ZBTB12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076315.2 - ENST00000375527.2 Missense_Mutation SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC IPPK 64768 broad.mit.edu 37 9 95414857 95414857 + Missense_Mutation SNP G G C TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr9:95414857G>C ENST00000287996.3 - 4.0 566 c.290C>G c.(289-291)cCa>cGa p.P97R NM_022755.5 NP_073592.1 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 97.0 inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1) 15.0 ACCCTTACCTGGTCTTTCAGA 0.313 0 84.0 84.0 84.0 9 95414857.0 2203.0 4300.0 6503.0 SO:0001583 missense AK023225 CCDS6699.1 9q22.31 2010-12-02 2005-10-20 2005-10-20 ENSG00000127080 ENSG00000127080 64768.0 64768.0 14645.0 protein-coding gene gene with protein product """chromosome 9 open reading frame 12""" C9orf12 12084730 Standard NM_022755 NM_022755 Approved INSP5K2, FLJ13163, IP5K, IPK1 uc004asl.1 Q9H8X2 OTTHUMG00000020231 ENST00000287996.3:c.290C>G 9.__UNKNOWN__:g.95414857G>C ENSP00000287996:p.Pro97Arg Q5T9F7|Q9H7V8 __UNKNOWN__ CCDS6699.1 . . . . . . . . . . G 17.30 3.355046 0.61293 . . ENSG00000127080 ENST00000287996 T 0.36520 1.25 4.65 4.65 0.58169 . 0.000000 0.85682 D 0.000000 T 0.61198 0.2328 M 0.75150 2.29 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.66830 -0.5824 10 0.87932 D 0 -21.5322 16.6593 0.85237 0.0:0.0:1.0:0.0 . 97 Q9H8X2 IPPK_HUMAN R 97 ENSP00000287996:P97R ENSP00000287996:P97R P - 2 0 IPPK 94454678 1.000000 0.71417 1.000000 0.80357 0.721000 0.41392 7.088000 0.76901 2.306000 0.77630 0.195000 0.17529 CCA IPPK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053101.1 - ENST00000287996.3 Missense_Mutation SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC NCKAP1 10787 broad.mit.edu 37 2 183832016 183832016 + Missense_Mutation SNP A A G TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr2:183832016A>G ENST00000361354.4 - 16.0 1928 c.1556T>C c.(1555-1557)aTa>aCa p.I519T NCKAP1_ENST00000360982.2_Missense_Mutation_p.I525T NM_013436.3 NP_038464.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 519.0 apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209) protein complex binding (GO:0032403) breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45.0 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) ATGAAAAATTATTGTATTCAT 0.333 0 111.0 114.0 113.0 2 183832016.0 2203.0 4300.0 6503.0 SO:0001583 missense AB014509 CCDS2287.1, CCDS2288.1 2q32 2009-08-14 ENSG00000061676 ENSG00000061676 10787.0 10787.0 7666.0 protein-coding gene gene with protein product 604891.0 10673335, 12181570, 9344857 Standard NM_205842 NM_013436 Approved Nap1, HEM2, NAP125 uc002upb.4 Q9Y2A7 OTTHUMG00000132623 ENST00000361354.4:c.1556T>C 2.__UNKNOWN__:g.183832016A>G ENSP00000355348:p.Ile519Thr O60329|Q53QN5|Q53S94|Q53Y35 __UNKNOWN__ CCDS2287.1 . . . . . . . . . . A 15.39 2.820161 0.50633 . . ENSG00000061676 ENST00000361354;ENST00000360982 T;T 0.32515 1.45;1.45 5.42 5.42 0.78866 . 0.000000 0.85682 D 0.000000 T 0.25680 0.0625 L 0.28458 0.855 0.80722 D 1 B;B 0.30914 0.3;0.256 B;B 0.34242 0.178;0.112 T 0.05419 -1.0886 10 0.20046 T 0.44 -20.0477 15.4424 0.75195 1.0:0.0:0.0:0.0 . 519;525 Q9Y2A7;Q9Y2A7-2 NCKP1_HUMAN;. T 519;525 ENSP00000355348:I519T;ENSP00000354251:I525T ENSP00000354251:I525T I - 2 0 NCKAP1 183540261 1.000000 0.71417 0.999000 0.59377 0.998000 0.95712 9.287000 0.95975 2.039000 0.60335 0.482000 0.46254 ATA NCKAP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255867.2 - ENST00000361354.4 Missense_Mutation SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC LRP1B 53353 broad.mit.edu 37 2 141092044 141092044 + Silent SNP T T C TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr2:141092044T>C ENST00000389484.3 - 79.0 13172 c.12201A>G c.(12199-12201)caA>caG p.Q4067Q NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4067.0 protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898) integral component of membrane (GO:0016021)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041) 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) 606.0 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) GTAAGTTCTTTTGTACTAAAA 0.398 TSP Lung(27;0.18) Colon(99;50 2074 2507 20106) 0 174.0 160.0 164.0 2 141092044.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF176832 CCDS2182.1 2q21.2 2013-05-29 2010-01-26 ENSG00000168702 ENSG00000168702 53353.0 53353.0 """Low density lipoprotein receptors""" 6693.0 protein-coding gene gene with protein product """LRP-deleted in tumors""" 608766.0 10766186 Standard NM_018557 NM_018557 Approved LRP-DIT, LRPDIT uc002tvj.1 Q9NZR2 OTTHUMG00000131799 ENST00000389484.3:c.12201A>G 2.__UNKNOWN__:g.141092044T>C Q8WY29|Q8WY30|Q8WY31 __UNKNOWN__ CCDS2182.1 . . . . . . . . . . T 9.871 1.198930 0.22121 . . ENSG00000168702 ENST00000437977 . . . 6.08 2.43 0.29744 . . . . . T 0.59074 0.2167 . . . 0.80722 D 1 . . . . . . T 0.53457 -0.8436 4 . . . . 9.9331 0.41534 0.0:0.2437:0.0:0.7563 . . . . R 299 . . K - 2 0 LRP1B 140808514 0.989000 0.36119 1.000000 0.80357 0.993000 0.82548 0.228000 0.17814 0.542000 0.28846 0.482000 0.46254 AAA LRP1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254736.2 - ENST00000389484.3 Silent SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC C1GALT1 56913 broad.mit.edu 37 7 7283232 7283232 + Silent SNP C C T TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr7:7283232C>T ENST00000223122.3 + 3.0 1028 c.966C>T c.(964-966)ctC>ctT p.L322L C1GALT1_ENST00000436587.2_Silent_p.L322L Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 322.0 angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872) breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7.0 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) TAGAATACCTCGTTTATCATC 0.353 0 178.0 167.0 170.0 7 7283232.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF155582 CCDS5355.1 7p21.3 2014-06-24 2014-06-24 ENSG00000106392 ENSG00000106392 56913.0 56913.0 2.4.1.122 """Beta 3-glycosyltransferases""" 24337.0 protein-coding gene gene with protein product """core 1 beta3-Gal-T""" 610555.0 10580128, 11677243 Standard NM_020156 NM_020156 Approved C1GALT, T-synthase uc003srb.3 Q9NS00 OTTHUMG00000151912 ENST00000223122.3:c.966C>T 7.__UNKNOWN__:g.7283232C>T Q96QH4|Q9BTU1 __UNKNOWN__ CCDS5355.1 C1GALT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000324379.2 + ENST00000223122.3 Silent SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC PCED1A 64773 broad.mit.edu 37 20 2819277 2819277 + Missense_Mutation SNP C C T TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr20:2819277C>T ENST00000360652.2 - 5.0 1061 c.559G>A c.(559-561)Ggg>Agg p.G187R PCED1A_ENST00000356872.3_Missense_Mutation_p.G136R NM_022760.4 NP_073597.2 Q9H1Q7 PED1A_HUMAN PC-esterase domain containing 1A 187.0 ATACGTTCCCCGAGGGGCATC 0.577 0 119.0 103.0 108.0 20 2819277.0 2203.0 4300.0 6503.0 SO:0001583 missense AK026029 CCDS13035.1, CCDS59442.1 20p13 2012-06-11 2012-06-11 2012-06-11 ENSG00000132635 ENSG00000132635 64773.0 64773.0 16212.0 protein-coding gene gene with protein product """chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A""" C20orf81, FAM113A 20056006 Standard NM_022760 NM_022760 Approved bA12M19.1, FLJ22376 uc002wgz.2 Q9H1Q7 OTTHUMG00000031716 ENST00000360652.2:c.559G>A 20.__UNKNOWN__:g.2819277C>T ENSP00000353868:p.Gly187Arg Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1 __UNKNOWN__ CCDS13035.1 . . . . . . . . . . C 18.57 3.652387 0.67472 . . ENSG00000132635 ENST00000356872;ENST00000360652;ENST00000448755;ENST00000439542 T;T;T;T 0.16743 2.32;2.32;2.32;2.32 3.7 3.7 0.42460 Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1); 0.000000 0.85682 D 0.000000 T 0.39009 0.1062 M 0.73598 2.24 0.58432 D 0.999999 D;D 0.89917 1.0;1.0 D;D 0.76071 0.969;0.987 T 0.29243 -1.0018 10 0.87932 D 0 -10.7896 11.1451 0.48426 0.0:1.0:0.0:0.0 . 136;187 Q9H1Q7-2;Q9H1Q7 .;F113A_HUMAN R 136;187;136;187 ENSP00000349334:G136R;ENSP00000353868:G187R;ENSP00000388935:G136R;ENSP00000401711:G187R ENSP00000349334:G136R G - 1 0 FAM113A 2767277 1.000000 0.71417 0.959000 0.39883 0.836000 0.47400 5.890000 0.69774 2.101000 0.63845 0.462000 0.41574 GGG PCED1A-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077676.2 - ENST00000360652.2 Missense_Mutation SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC ZNF629 23361 broad.mit.edu 37 16 30793592 30793592 + Missense_Mutation SNP T T C TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr16:30793592T>C ENST00000262525.4 - 3.0 2264 c.2057A>G c.(2056-2058)aAc>aGc p.N686S NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 686.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22.0 Colorectal(24;0.198) GGGCTTTTCGTTGCCGTGGGT 0.572 0 27.0 28.0 28.0 16 30793592.0 2020.0 4177.0 6197.0 SO:0001583 missense AB002324 CCDS45463.1 16p11.2 2013-01-08 ENSG00000102870 23361.0 23361.0 """Zinc fingers, C2H2-type""" 29008.0 protein-coding gene gene with protein product """zinc finger protein 65""" ZNF65 9205841 Standard NM_015309 NM_001080417 Approved KIAA0326 uc002dzs.1 Q9UEG4 ENST00000262525.4:c.2057A>G 16.__UNKNOWN__:g.30793592T>C ENSP00000262525:p.Asn686Ser Q15938 __UNKNOWN__ CCDS45463.1 . . . . . . . . . . T 9.099 1.003778 0.19199 . . ENSG00000102870 ENST00000262525 T 0.60040 0.22 5.18 -4.49 0.03504 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.344488 0.20762 N 0.086147 T 0.32346 0.0826 N 0.11724 0.165 0.09310 N 0.999996 B 0.02656 0.0 B 0.01281 0.0 T 0.08452 -1.0721 10 0.66056 D 0.02 -16.9187 9.8371 0.40975 0.0:0.5331:0.1243:0.3426 . 686 Q9UEG4 ZN629_HUMAN S 686 ENSP00000262525:N686S ENSP00000262525:N686S N - 2 0 ZNF629 30701093 0.000000 0.05858 0.010000 0.14722 0.981000 0.71138 -0.375000 0.07475 -1.170000 0.02769 0.459000 0.35465 AAC ZNF629-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000434291.1 - ENST00000262525.4 Missense_Mutation SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC CC2D1A 54862 broad.mit.edu 37 19 14031583 14031583 + Missense_Mutation SNP C C A TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr19:14031583C>A ENST00000318003.7 + 14.0 1730 c.1489C>A c.(1489-1491)Cta>Ata p.L497I CC2D1A_ENST00000589606.1_Missense_Mutation_p.L497I NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 497.0 positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27.0 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GCTGGCCTTCCTAGAGGGCCG 0.647 0 27.0 32.0 30.0 19 14031583.0 1912.0 4127.0 6039.0 SO:0001583 missense AF536205 CCDS42512.1 19p13.12 2007-01-08 ENSG00000132024 54862.0 54862.0 30237.0 protein-coding gene gene with protein product """mental retardation, nonsyndromic, autosomal recessive, 3""" 610055.0 12761501, 16033914 Standard NM_017721 NM_017721 Approved FLJ20241, MRT3 uc002mxo.2 Q6P1N0 ENST00000318003.7:c.1489C>A 19.__UNKNOWN__:g.14031583C>A ENSP00000313601:p.Leu497Ile Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1 __UNKNOWN__ CCDS42512.1 . . . . . . . . . . C 20.8 4.057218 0.76074 . . ENSG00000132024 ENST00000318003;ENST00000254346;ENST00000397486 T 0.59638 0.25 5.18 4.14 0.48551 Domain of unknown function DM14 (1); 0.000000 0.64402 D 0.000003 T 0.77519 0.4142 M 0.86502 2.82 0.52501 D 0.999958 D;D;D 0.89917 0.999;0.999;1.0 D;D;D 0.85130 0.991;0.997;0.997 T 0.81473 -0.0917 10 0.72032 D 0.01 -17.231 12.9732 0.58524 0.0:0.9184:0.0:0.0816 . 119;497;497 Q9NX28;Q6P1N0-2;Q6P1N0 .;.;C2D1A_HUMAN I 497;120;251 ENSP00000313601:L497I ENSP00000254346:L120I L + 1 2 CC2D1A 13892583 1.000000 0.71417 1.000000 0.80357 0.919000 0.55068 1.610000 0.36869 2.420000 0.82092 0.555000 0.69702 CTA CC2D1A-001 KNOWN NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000457954.1 + ENST00000318003.7 Missense_Mutation SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC KRT14 3861 broad.mit.edu 37 17 39740077 39740077 + Missense_Mutation SNP G G A TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr17:39740077G>A ENST00000167586.6 - 4.0 948 c.862C>T c.(862-864)Cgt>Tgt p.R288C NM_000526.4 NP_000517 P02533 K1C14_HUMAN keratin 14 288.0 Coil 2.|Rod. aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043) cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634) keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25.0 Breast(137;0.000307) TACTGGTCACGCATCTCGTTC 0.557 0 202.0 171.0 182.0 17 39740077.0 2203.0 4300.0 6503.0 SO:0001583 missense BC002690 CCDS11400.1 17q21.2 2013-06-20 2008-09-19 ENSG00000186847 ENSG00000186847 3861.0 3861.0 """-"", ""Intermediate filaments type I, keratins (acidic)""" 6416.0 protein-coding gene gene with protein product """epidermolysis bullosa simplex, Dowling-Meara, Koebner""" 148066.0 """keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)""" EBS3, EBS4 1717157, 16831889 Standard NM_000526 NM_000526 Approved uc002hxf.2 P02533 OTTHUMG00000133426 ENST00000167586.6:c.862C>T 17.__UNKNOWN__:g.39740077G>A ENSP00000167586:p.Arg288Cys Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4 __UNKNOWN__ CCDS11400.1 . . . . . . . . . . G 18.92 3.725912 0.69074 . . ENSG00000186847 ENST00000167586 D 0.93426 -3.22 5.11 5.11 0.69529 Prefoldin (1);Filament (1); 0.000000 0.51477 D 0.000089 D 0.97511 0.9185 H 0.99682 4.7 0.58432 D 0.999999 D 0.56746 0.977 P 0.53809 0.735 D 0.97915 1.0311 10 0.87932 D 0 . 11.0536 0.47905 0.0:0.138:0.7192:0.1429 . 288 P02533 K1C14_HUMAN C 288 ENSP00000167586:R288C ENSP00000167586:R288C R - 1 0 KRT14 36993603 1.000000 0.71417 1.000000 0.80357 0.870000 0.49936 0.994000 0.29693 2.523000 0.85059 0.655000 0.94253 CGT KRT14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257289.1 - ENST00000167586.6 Missense_Mutation SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC ZAN 7455 broad.mit.edu 37 7 100363053 100363053 + RNA SNP G G A TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr7:100363053G>A ENST00000348028.3 + 0.0 4511 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139.0 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GGATTCTCCGGCATGTTCTGC 0.617 0 53.0 56.0 55.0 7 100363053.0 2129.0 4247.0 6376.0 U83191 7q22.1 2013-10-10 2013-10-10 ENSG00000146839 ENSG00000146839 7455.0 7455.0 12857.0 protein-coding gene gene with protein product 602372.0 """zonadhesin""" 9799793, 17033959 Standard NM_003386 NM_003386 Approved uc003uwk.3 Q9Y493 OTTHUMG00000157037 ENST00000348028.3: 7.__UNKNOWN__:g.100363053G>A A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88 __UNKNOWN__ . . . . . . . . . . G 16.18 3.051045 0.55218 . . ENSG00000146839 ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213 D;D;D;D 0.90324 -2.65;-2.65;-2.65;-2.65 3.99 -0.0472 0.13844 Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2); 0.190116 0.26079 N 0.026473 D 0.83454 0.5258 L 0.49126 1.545 0.09310 N 1 B;B 0.22146 0.053;0.065 B;B 0.29598 0.063;0.104 T 0.70124 -0.4958 10 0.39692 T 0.17 . 0.9326 0.01338 0.1781:0.2071:0.4031:0.2117 . 1449;1449 F5H0T8;Q9Y493 .;ZAN_HUMAN D 1449;1449;1449;26 ENSP00000445943:G1449D;ENSP00000445091:G1449D;ENSP00000444427:G1449D;ENSP00000441117:G26D ENSP00000423579:G1449D G + 2 0 ZAN 100200989 0.000000 0.05858 0.026000 0.17262 0.631000 0.37964 0.301000 0.19174 0.199000 0.20427 0.462000 0.41574 GGC ZAN-006 KNOWN basic polymorphic_pseudogene polymorphic_pseudogene OTTHUMT00000347214.1 + ENST00000348028.3 RNA SNP PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC CTD-2192J16.22 4125 broad.mit.edu 37 19 12758270 12758271 + Frame_Shift_Ins INS - - T TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr19:12758270_12758271insT ENST00000597692.1 - 2.0 364_365 c.365_366insA c.(364-366)tacfs p.Y122fs MAN2B1_ENST00000456935.2_Frame_Shift_Ins_p.T936fs|MAN2B1_ENST00000221363.4_Frame_Shift_Ins_p.T935fs CAAGTTCAAGGTAACGGGGGCG 0.579 0 SO:0001589 frameshift_variant ENST00000597692.1:c.366dupA 19.__UNKNOWN__:g.12758271_12758271dupT ENSP00000470240:p.Tyr122fs __UNKNOWN__ CTD-2192J16.22-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay protein_coding OTTHUMT00000462694.1 - ENST00000597692.1 Frame_Shift_Ins INS PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC P4HTM 54681 broad.mit.edu 37 3 49027893 49027894 + Frame_Shift_Ins INS - - CA TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr3:49027893_49027894insCA ENST00000383729.4 + 1.0 575_576 c.204_205insCA c.(205-207)cacfs p.H69fs P4HTM_ENST00000343546.4_Frame_Shift_Ins_p.H69fs|P4HTM_ENST00000609406.1_3'UTR NM_177939.2 NP_808808.1 Q9NXG6 P4HTM_HUMAN prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 69.0 endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706) NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21.0 Vitamin C(DB00126) TGGTGTTCGTGCACCTGTACCT 0.693 0 SO:0001589 frameshift_variant CCDS2781.2, CCDS43089.1 3p21.31 2009-01-14 ENSG00000178467 ENSG00000178467 54681.0 54681.0 28858.0 protein-coding gene gene with protein product """Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase""" 614584.0 12163023, 17726031 Standard NM_177938 XR_245139 Approved P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4 uc003cvh.3 Q9NXG6 OTTHUMG00000074057 ENST00000383729.4:c.205_206dupCA 3.__UNKNOWN__:g.49027894_49027895dupCA ENSP00000373235:p.His69fs Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77 __UNKNOWN__ CCDS43089.1 P4HTM-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000157211.1 + ENST00000383729.4 Frame_Shift_Ins INS PCPG-TCGA-QR-A6H1-Normal-SM-5EQFC MAP4K5 11183 broad.mit.edu 37 14 50904710 50904710 + Silent SNP G G C TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr14:50904710G>C ENST00000013125.4 - 24.0 2043 c.1725C>G c.(1723-1725)ctC>ctG p.L575L NM_006575.4|NM_198794.2 NP_006566.2|NP_942089.1 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase kinase 5 575.0 CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}. activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15.0 all_epithelial(31;0.000415)|Breast(41;0.0102) TGTGAGAGTAGAGCTGAAAGG 0.348 0 97.0 90.0 92.0 14 50904710.0 1801.0 4064.0 5865.0 SO:0001819 synonymous_variant U77129 14q11.2-q21 2011-06-09 ENSG00000012983 11183.0 11183.0 """Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases""" 6867.0 protein-coding gene gene with protein product """germinal center kinase-related""" 604923.0 9038372, 8274451 Standard NM_006575 NM_198794 Approved KHS1, GCKR, KHS uc001wyb.3 Q9Y4K4 ENST00000013125.4:c.1725C>G 14.__UNKNOWN__:g.50904710G>C Q8IYF6 __UNKNOWN__ MAP4K5-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding protein_coding OTTHUMT00000410880.1 - ENST00000013125.4 Silent SNP PCPG-TCGA-QR-A6H2-Normal-SM-5EQFX MEPE 56955 broad.mit.edu 37 4 88767438 88767438 + Missense_Mutation SNP C C A TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr4:88767438C>A ENST00000424957.3 + 4.0 1491 c.1418C>A c.(1417-1419)cCc>cAc p.P473H MEPE_ENST00000361056.3_Missense_Mutation_p.P473H|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.P360H|MEPE_ENST00000560249.1_Missense_Mutation_p.P360H|MEPE_ENST00000395102.4_Missense_Mutation_p.P504H|MEPE_ENST00000497649.2_Missense_Mutation_p.P449H NM_001184694.1 NP_001171623.1 Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 473.0 biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501) proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201) cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36.0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) CATTATGTACCCCACAGACAA 0.413 0 72.0 72.0 72.0 4 88767438.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ276396 CCDS3625.1, CCDS54776.1 4q21.1 2008-08-29 2008-08-29 ENSG00000152595 ENSG00000152595 56955.0 56955.0 13361.0 protein-coding gene gene with protein product 605912.0 """matrix, extracellular phosphoglycoprotein with ASARM motif (bone)""" 10945470 Standard NM_020203 Approved uc003hqy.3 Q9NQ76 OTTHUMG00000130592 ENST00000424957.3:c.1418C>A 4.__UNKNOWN__:g.88767438C>A ENSP00000416984:p.Pro473His A1A4X9|A8MTA3|D2CFR4|F5H5C5 __UNKNOWN__ CCDS3625.1 . . . . . . . . . . C 9.749 1.167077 0.21621 . . ENSG00000152595 ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056 T;T;T;T;T 0.46063 0.88;0.88;0.88;0.89;0.88 4.28 2.36 0.29203 . 0.554981 0.15099 N 0.280660 T 0.33673 0.0871 L 0.56396 1.775 0.09310 N 1 P 0.39883 0.693 B 0.32393 0.145 T 0.19386 -1.0307 10 0.52906 T 0.07 0.0636 9.0641 0.36453 0.393:0.607:0.0:0.0 . 473 Q9NQ76 MEPE_HUMAN H 473;504;449;360;473 ENSP00000416984:P473H;ENSP00000378534:P504H;ENSP00000422747:P449H;ENSP00000443491:P360H;ENSP00000354341:P473H ENSP00000354341:P473H P + 2 0 MEPE 88986462 0.000000 0.05858 0.060000 0.19600 0.018000 0.09664 0.169000 0.16641 0.940000 0.37473 0.563000 0.77884 CCC MEPE-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253038.1 + ENST00000424957.3 Missense_Mutation SNP PCPG-TCGA-QR-A6H2-Normal-SM-5EQFX FRY 10129 broad.mit.edu 37 13 32757161 32757161 + Missense_Mutation SNP G G C TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr13:32757161G>C ENST00000380250.3 + 24.0 3540 c.3044G>C c.(3043-3045)aGa>aCa p.R1015T NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1015.0 cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) 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) 132.0 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) GCTCTGGAAAGAAGACCAGAG 0.323 0 54.0 54.0 54.0 13 32757161.0 1786.0 4059.0 5845.0 SO:0001583 missense AL049784 CCDS41875.1 13q13.1 2008-02-05 2005-11-24 2005-11-24 ENSG00000073910 ENSG00000073910 10129.0 10129.0 20367.0 protein-coding gene gene with protein product 614818.0 """chromosome 13 open reading frame 14""" C13orf14 14702039, 8812419 Standard NM_023037 NM_023037 Approved bA37E23.1, 13CDNA73, CG003 uc001utx.3 Q5TBA9 OTTHUMG00000016696 ENST00000380250.3:c.3044G>C 13.__UNKNOWN__:g.32757161G>C ENSP00000369600:p.Arg1015Thr Q9Y3N6 __UNKNOWN__ CCDS41875.1 . . . . . . . . . . G 23.5 4.419495 0.83559 . . ENSG00000073910 ENST00000380250 T 0.65916 -0.18 5.22 5.22 0.72569 . 0.000000 0.85682 D 0.000000 T 0.65386 0.2686 M 0.74881 2.28 0.80722 D 1 P 0.43542 0.81 B 0.39904 0.313 T 0.68992 -0.5263 10 0.40728 T 0.16 . 19.1464 0.93471 0.0:0.0:1.0:0.0 . 1015 Q5TBA9 FRY_HUMAN T 1015 ENSP00000369600:R1015T ENSP00000369600:R1015T R + 2 0 FRY 31655161 1.000000 0.71417 0.993000 0.49108 0.986000 0.74619 7.908000 0.87438 2.569000 0.86673 0.655000 0.94253 AGA FRY-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044405.1 + ENST00000380250.3 Missense_Mutation SNP PCPG-TCGA-QR-A6H2-Normal-SM-5EQFX CUL4A 8451 broad.mit.edu 37 13 113888241 113888241 + Silent SNP T T C TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr13:113888241T>C ENST00000375440.4 + 7.0 790 c.706T>C c.(706-708)Ttg>Ctg p.L236L CUL4A_ENST00000326335.4_Silent_p.L136L|CUL4A_ENST00000451881.1_Silent_p.L136L|CUL4A_ENST00000375441.3_Silent_p.L136L NM_001008895.1 NP_001008895.1 Q13619 CUL4A_HUMAN cullin 4A 236.0 cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032) Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17.0 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) ACTGAAATTTTTGGAAGAGAC 0.403 0 123.0 118.0 120.0 13 113888241.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U58090 CCDS9533.1, CCDS41908.1, CCDS73604.1 13q34 2011-05-24 ENSG00000139842 ENSG00000139842 8451.0 8451.0 2554.0 protein-coding gene gene with protein product 603137.0 8681378 Standard NM_003589 NM_001008895 Approved uc021rmv.1 Q13619 OTTHUMG00000017384 ENST00000375440.4:c.706T>C 13.__UNKNOWN__:g.113888241T>C A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17 __UNKNOWN__ CCDS41908.1 CUL4A-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045888.3 + ENST00000375440.4 Silent SNP PCPG-TCGA-QR-A6H2-Normal-SM-5EQFX OR4C11 219429 broad.mit.edu 37 11 55371604 55371604 + Silent SNP A A G TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr11:55371604A>G ENST00000302231.4 - 1.0 270 c.246T>C c.(244-246)gaT>gaC p.D82D NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 82.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33.0 CAGAGAGAGCATCCACAATTA 0.403 0 85.0 79.0 81.0 11 55371604.0 2176.0 4014.0 6190.0 SO:0001819 synonymous_variant AB065774 CCDS31503.1 11q11 2012-08-09 2004-03-10 ENSG00000172188 ENSG00000172188 219429.0 219429.0 """GPCR / Class A : Olfactory receptors""" 15167.0 protein-coding gene gene with protein product OR4C11P Standard NM_001004700 NM_001004700 Approved uc010rii.2 Q6IEV9 OTTHUMG00000165290 ENST00000302231.4:c.246T>C 11.__UNKNOWN__:g.55371604A>G B9EIL4|Q8NGL8 __UNKNOWN__ CCDS31503.1 OR4C11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000383268.1 - ENST00000302231.4 Silent SNP PCPG-TCGA-QR-A6H2-Normal-SM-5EQFX MPDZ 8777 broad.mit.edu 37 9 13183541 13183541 + Missense_Mutation SNP T T A TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr9:13183541T>A ENST00000541718.1 - 19.0 2746 c.2525A>T c.(2524-2526)gAg>gTg p.E842V MPDZ_ENST00000546205.1_Missense_Mutation_p.E842V|MPDZ_ENST00000381015.4_Missense_Mutation_p.E842V|MPDZ_ENST00000447879.1_Missense_Mutation_p.E842V|MPDZ_ENST00000536827.1_Missense_Mutation_p.E842V|MPDZ_ENST00000381022.2_Missense_Mutation_p.E842V|MPDZ_ENST00000319217.7_Missense_Mutation_p.E842V NM_001261407.1|NM_003829.4 NP_001248336.1|NP_003820.2 O75970 MPDZ_HUMAN multiple PDZ domain protein 842.0 cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032) apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923) protein C-terminus binding (GO:0008022) 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) 61.0 GBM - Glioblastoma multiforme(50;2.03e-06) GTATGGAGACTCAAATGTGGA 0.378 0 116.0 110.0 112.0 9 13183541.0 1906.0 4129.0 6035.0 SO:0001583 missense AF093419 CCDS47951.1, CCDS59119.1, CCDS59120.1 9p23 2008-05-15 ENSG00000107186 ENSG00000107186 8777.0 8777.0 7208.0 protein-coding gene gene with protein product 603785.0 Standard NM_003829 NM_003829 Approved MUPP1 uc003zlb.4 O75970 OTTHUMG00000021031 ENST00000541718.1:c.2525A>T 9.__UNKNOWN__:g.13183541T>A ENSP00000439807:p.Glu842Val A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790 __UNKNOWN__ CCDS47951.1 . . . . . . . . . . T 14.09 2.432061 0.43122 . . ENSG00000107186 ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205 T;T;T;T;T;T;T 0.12039 2.76;2.72;2.72;2.72;2.76;2.76;2.77 5.64 3.11 0.35812 . 0.000000 0.43919 D 0.000510 T 0.13114 0.0318 L 0.32530 0.975 0.80722 D 1 B;P;P 0.41232 0.434;0.57;0.743 B;B;P 0.45232 0.218;0.389;0.474 T 0.04268 -1.0964 10 0.48119 T 0.1 . 8.5431 0.33404 0.1292:0.0:0.1353:0.7354 . 842;842;842 B7ZMI4;O75970-3;O75970-2 .;.;. V 842;842;842;842;842;842;792;842 ENSP00000320006:E842V;ENSP00000439807:E842V;ENSP00000370410:E842V;ENSP00000444151:E842V;ENSP00000415208:E842V;ENSP00000370403:E842V;ENSP00000446358:E842V ENSP00000320006:E842V E - 2 0 MPDZ 13173541 1.000000 0.71417 0.788000 0.31933 0.200000 0.23975 4.419000 0.59835 0.921000 0.36994 0.528000 0.53228 GAG MPDZ-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000401076.1 - ENST00000541718.1 Missense_Mutation SNP PCPG-TCGA-QR-A6H2-Normal-SM-5EQFX WDR52 55779 broad.mit.edu 37 3 113145101 113145101 + Missense_Mutation SNP C C A TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr3:113145101C>A ENST00000295868.2 - 4.0 439 c.277G>T c.(277-279)Gct>Tct p.A93S WDR52-AS1_ENST00000473329.1_RNA|WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000393845.2_Missense_Mutation_p.A93S NM_018338.3 NP_060808.2 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49.0 TCTTCCACAGCTGGAGCAGGG 0.398 0 113.0 116.0 115.0 3 113145101.0 2203.0 4300.0 6503.0 SO:0001583 missense ENST00000295868.2:c.277G>T 3.__UNKNOWN__:g.113145101C>A ENSP00000295868:p.Ala93Ser __UNKNOWN__ CCDS2972.1 . . . . . . . . . . C 9.619 1.133221 0.21041 . . ENSG00000206530 ENST00000393845;ENST00000295868 T;T 0.44083 2.85;0.93 5.24 -0.59 0.11679 . . . . . T 0.27384 0.0672 N 0.22421 0.69 0.09310 N 1 B 0.15473 0.013 B 0.10450 0.005 T 0.22941 -1.0202 9 0.20046 T 0.44 . 12.8912 0.58071 0.1111:0.3345:0.5545:0.0 . 93 Q96MT7 WDR52_HUMAN S 93 ENSP00000377428:A93S;ENSP00000295868:A93S ENSP00000295868:A93S A - 1 0 WDR52 114627791 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -0.164000 0.09983 -0.108000 0.12066 -0.188000 0.12872 GCT WDR52-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000354128.3 - ENST00000295868.2 Missense_Mutation SNP PCPG-TCGA-QR-A6H2-Normal-SM-5EQFX FAM188A 80013 broad.mit.edu 37 10 15883458 15883458 + Missense_Mutation SNP G G A TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr10:15883458G>A ENST00000277632.3 - 4.0 596 c.376C>T c.(376-378)Cct>Tct p.P126S FAM188A_ENST00000477891.1_5'UTR NM_024948.2 NP_079224.1 Q9H8M7 F188A_HUMAN family with sequence similarity 188, member A 126.0 apoptotic process (GO:0006915) nucleus (GO:0005634) calcium ion binding (GO:0005509) breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 22.0 GACTCTGCAGGACTCCCAGAA 0.348 Pancreas(159;946 1953 2111 4475 22008) 0 89.0 85.0 87.0 10 15883458.0 2203.0 4300.0 6503.0 SO:0001583 missense AK023459 CCDS7110.1 10p13 2009-07-14 2009-07-14 2009-07-14 ENSG00000148481 ENSG00000148481 80013.0 80013.0 23578.0 protein-coding gene gene with protein product """caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein""" 611649.0 """chromosome 10 open reading frame 97""" C10orf97 12054670, 17652099 Standard NM_024948 XM_005252600 Approved FLJ13397, CARP, my042, DERP5 uc001iod.1 Q9H8M7 OTTHUMG00000017734 ENST00000277632.3:c.376C>T 10.__UNKNOWN__:g.15883458G>A ENSP00000277632:p.Pro126Ser Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4 __UNKNOWN__ CCDS7110.1 . . . . . . . . . . G 14.50 2.552885 0.45487 . . ENSG00000148481 ENST00000277632 T 0.29655 1.56 5.5 5.5 0.81552 . 0.325020 0.38381 N 0.001720 T 0.31071 0.0785 L 0.47716 1.5 0.80722 D 1 B 0.30851 0.297 B 0.32211 0.142 T 0.05037 -1.0910 10 0.16896 T 0.51 -7.5283 19.7538 0.96281 0.0:0.0:1.0:0.0 . 126 Q9H8M7 F188A_HUMAN S 126 ENSP00000277632:P126S ENSP00000277632:P126S P - 1 0 FAM188A 15923464 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 4.774000 0.62339 2.739000 0.93911 0.561000 0.74099 CCT FAM188A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000046990.2 - ENST00000277632.3 Missense_Mutation SNP PCPG-TCGA-QR-A6H2-Normal-SM-5EQFX ZFPM2 23414 broad.mit.edu 37 8 106815687 106815687 + Missense_Mutation SNP T T C TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr8:106815687T>C ENST00000407775.2 + 8.0 3627 c.3377T>C c.(3376-3378)aTc>aCc p.I1126T ZFPM2_ENST00000517361.1_Missense_Mutation_p.I994T|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.I857T|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.I994T|RP11-152P17.2_ENST00000521622.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 1126.0 blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) 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) 99.0 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CTATGTGATATCCAGTTCAAC 0.418 0 39.0 39.0 39.0 8 106815687.0 1884.0 4107.0 5991.0 SO:0001583 missense AF119334 CCDS47908.1 8q23 2013-01-10 2012-11-27 ENSG00000169946 ENSG00000169946 23414.0 23414.0 """Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing""" 16700.0 protein-coding gene gene with protein product 603693.0 """zinc finger protein, multitype 2""" 9927675, 10438528 Standard NM_012082 Approved FOG2, hFOG-2, ZNF89B, ZC2HC11B uc003ymd.3 Q8WW38 OTTHUMG00000164818 ENST00000407775.2:c.3377T>C 8.__UNKNOWN__:g.106815687T>C ENSP00000384179:p.Ile1126Thr Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5 __UNKNOWN__ CCDS47908.1 . . . . . . . . . . T 15.93 2.977155 0.53720 . . ENSG00000169946 ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472 T;T;T;T 0.33438 1.41;1.41;1.41;1.41 5.81 5.81 0.92471 Zinc finger, C2H2-like (1); 0.000000 0.85682 D 0.000000 T 0.58963 0.2159 M 0.80616 2.505 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 T 0.61992 -0.6948 10 0.51188 T 0.08 . 16.1671 0.81777 0.0:0.0:0.0:1.0 . 1126 Q8WW38 FOG2_HUMAN T 1126;994;994;857 ENSP00000384179:I1126T;ENSP00000430757:I994T;ENSP00000428720:I994T;ENSP00000367733:I857T ENSP00000367733:I857T I + 2 0 ZFPM2 106884863 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 8.040000 0.89188 2.224000 0.72417 0.528000 0.53228 ATC ZFPM2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000380614.1 + ENST00000407775.2 Missense_Mutation SNP PCPG-TCGA-QR-A6H2-Normal-SM-5EQFX HERC1 8925 broad.mit.edu 37 15 63926942 63926942 + Missense_Mutation SNP T T C TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr15:63926942T>C ENST00000443617.2 - 66.0 12647 c.12560A>G c.(12559-12561)cAg>cGg p.Q4187R NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4187.0 cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) 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) 132.0 CTGTCCAATCTGATATCCCTC 0.418 0 91.0 84.0 86.0 15 63926942.0 1873.0 4108.0 5981.0 SO:0001583 missense U50078 CCDS45277.1 15q22 2013-01-10 2012-02-23 ENSG00000103657 8925.0 8925.0 """WD repeat domain containing""" 4867.0 protein-coding gene gene with protein product 605109.0 """hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1""" 8861955, 9233772 Standard NM_003922 NM_003922 Approved p532, p619 uc002amp.3 Q15751 ENST00000443617.2:c.12560A>G 15.__UNKNOWN__:g.63926942T>C ENSP00000390158:p.Gln4187Arg Q8IW65 __UNKNOWN__ CCDS45277.1 . . . . . . . . . . T 10.32 1.317313 0.23908 . . ENSG00000103657 ENST00000443617 D 0.82619 -1.63 5.5 5.5 0.81552 Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2); 0.849788 0.10330 N 0.687721 T 0.62245 0.2412 N 0.00683 -1.26 0.53688 D 0.999976 B 0.31413 0.322 B 0.35413 0.202 T 0.60551 -0.7241 10 0.15066 T 0.55 . 15.6078 0.76689 0.0:0.0:0.0:1.0 . 4187 Q15751 HERC1_HUMAN R 4187 ENSP00000390158:Q4187R ENSP00000390158:Q4187R Q - 2 0 HERC1 61713995 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 8.040000 0.89188 2.102000 0.63906 0.528000 0.53228 CAG HERC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000418523.1 - ENST00000443617.2 Missense_Mutation SNP PCPG-TCGA-QR-A6H2-Normal-SM-5EQFX ZNF519 162655 broad.mit.edu 37 18 14106297 14106297 + Missense_Mutation SNP A A G TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr18:14106297A>G ENST00000589498.1 - 3.0 281 ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000590202.1_Missense_Mutation_p.L81S Q8TB69 ZN519_HUMAN zinc finger protein 519 negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18.0 GTTTTTCCATAAGCATATATT 0.353 0 70.0 69.0 70.0 18 14106297.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant BC024227 CCDS32797.1 18p11.21 2014-06-18 ENSG00000175322 ENSG00000175322 162655.0 162655.0 """Zinc fingers, C2H2-type"", ""-""" 30574.0 protein-coding gene gene with protein product """similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)""" 12477932 Standard NM_145287 NM_145287 Approved HsT2362, FLJ36809 uc002kst.2 Q8TB69 OTTHUMG00000182055 ENST00000589498.1:c.131-4525T>C 18.__UNKNOWN__:g.14106297A>G __UNKNOWN__ . . . . . . . . . . A 2.389 -0.340312 0.05243 . . ENSG00000175322 ENST00000309305 . . . 0.328 -0.656 0.11436 . . . . . T 0.33294 0.0858 L 0.60455 1.87 0.09310 N 1 B 0.20052 0.041 B 0.14578 0.011 T 0.28870 -1.0030 8 0.54805 T 0.06 . 3.3913 0.07290 0.6526:0.0:0.0:0.3474 . 81 Q8TB69 ZN519_HUMAN S 81 . ENSP00000307908:L81S L - 2 0 ZNF519 14096297 0.001000 0.12720 0.000000 0.03702 0.417000 0.31264 0.336000 0.19823 -0.921000 0.03794 0.076000 0.15429 TTA ZNF519-004 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000459035.1 - ENST00000589498.1 Intron SNP PCPG-TCGA-QR-A6H2-Normal-SM-5EQFX MORN4 118812 broad.mit.edu 37 10 99376082 99376082 + Missense_Mutation SNP A A C TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr10:99376082A>C ENST00000478953.1 - 0.0 452 MORN4_ENST00000307450.6_Missense_Mutation_p.C127G|PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000335628.3_Missense_Mutation_p.C185G Q8NDC4 MORN4_HUMAN MORN repeat containing 4 large_intestine(1)|lung(1)|stomach(2) 4.0 ATGGCAGAACACTTCTCACGT 0.542 0 63.0 60.0 61.0 10 99376082.0 2203.0 4300.0 6503.0 SO:0001624 3_prime_UTR_variant AJ431726 CCDS7468.1 10q24.2 2008-06-23 2008-06-23 2008-06-23 ENSG00000171160 ENSG00000171160 118812.0 118812.0 24001.0 protein-coding gene gene with protein product """44050 protein""" """chromosome 10 open reading frame 83""" C10orf83 12477932 Standard NM_178832 NM_178832 Approved bA548K23.4, FLJ25925 uc001koe.3 Q8NDC4 OTTHUMG00000018861 ENST00000478953.1:c.*68T>G 10.__UNKNOWN__:g.99376082A>C Q86Y54 __UNKNOWN__ . . . . . . . . . . A 14.92 2.678305 0.47886 . . ENSG00000171160 ENST00000307450;ENST00000515674;ENST00000335628 T;T 0.58652 0.71;0.32 5.03 5.03 0.67393 . 0.048373 0.85682 D 0.000000 T 0.69833 0.3155 M 0.63843 1.955 0.80722 D 1 D;P 0.71674 0.998;0.601 D;B 0.64237 0.923;0.08 T 0.67643 -0.5618 10 0.28530 T 0.3 -13.2655 14.9245 0.70866 1.0:0.0:0.0:0.0 . 185;127 Q8NDC4-2;Q8NDC4 .;MORN4_HUMAN G 127;127;185 ENSP00000307636:C127G;ENSP00000335498:C185G ENSP00000307636:C127G C - 1 0 MORN4 99366072 1.000000 0.71417 0.996000 0.52242 0.746000 0.42486 3.067000 0.50010 2.119000 0.64992 0.459000 0.35465 TGT MORN4-003 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000049732.2 - ENST00000478953.1 3'UTR SNP PCPG-TCGA-QR-A6H2-Normal-SM-5EQFX PCYT1B 9468 broad.mit.edu 37 X 24637194 24637195 + Frame_Shift_Del DEL GT GT - TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chrX:24637194_24637195delGT ENST00000379144.2 - 2.0 254_255 c.124_125delAC c.(124-126)actfs p.T42fs PCYT1B_ENST00000356768.4_Frame_Shift_Del_p.T42fs|PCYT1B_ENST00000379145.1_Frame_Shift_Del_p.T24fs NM_004845.4 NP_004836.2 Q9Y5K3 PCY1B_HUMAN phosphate cytidylyltransferase 1, choline, beta 42.0 CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789) choline-phosphate cytidylyltransferase activity (GO:0004105) breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 17.0 Choline(DB00122) GGCAGGTGCAGTCAGGGTCTAG 0.48 0 SO:0001589 frameshift_variant AF052510 CCDS14213.1, CCDS55391.1, CCDS55392.1 Xp22 2008-02-05 2005-09-05 ENSG00000102230 ENSG00000102230 9468.0 9468.0 2.7.7.15 8755.0 protein-coding gene gene with protein product 604926.0 """phosphate cytidylyltransferase 1, choline, beta isoform""" 9593753 Standard NM_004845 NM_004845 Approved CCT-beta, CTB uc004dbi.3 Q9Y5K3 OTTHUMG00000021270 ENST00000379144.2:c.124_125delAC X.__UNKNOWN__:g.24637194_24637195delGT ENSP00000368439:p.Thr42fs A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9 __UNKNOWN__ CCDS14213.1 PCYT1B-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056103.1 - ENST00000379144.2 Frame_Shift_Del DEL PCPG-TCGA-QR-A6H2-Normal-SM-5EQFX CTCFL 140690 bcgsc.ca 37 20 56090777 56090777 + Silent SNP C C T TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr20:56090777C>T ENST00000423479.3 - 6.0 1263 c.1173G>A c.(1171-1173)acG>acA p.T391T CTCFL_ENST00000433949.3_Silent_p.T186T|CTCFL_ENST00000608440.1_Silent_p.T391T|CTCFL_ENST00000429804.3_Silent_p.T391T|CTCFL_ENST00000608425.1_Silent_p.T391T|CTCFL_ENST00000608263.1_Silent_p.T391T|CTCFL_ENST00000422869.2_Silent_p.T391T|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000502686.2_Silent_p.T129T|CTCFL_ENST00000371196.2_Silent_p.T391T|CTCFL_ENST00000243914.3_Silent_p.T391T|CTCFL_ENST00000539382.1_Silent_p.T186T|CTCFL_ENST00000609232.1_Silent_p.T391T|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000608903.1_Silent_p.T129T NM_001269043.1 NP_001255972.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 391.0 cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212) p.T391T(2) 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) 58.0 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) TACCTGAGTGCGTTCTCATGT 0.478 2 Substitution - coding silent(2) large_intestine(1)|endometrium(1) C 1,4405 2.1+/-5.4 0,1,2202 165.0 154.0 157.0 1173 -10.5 0.0 20 157.0 0,8600 0,0,4300 no coding-synonymous CTCFL NM_080618.2 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 391/664 56090777.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1 20q13.31 2013-01-08 ENSG00000124092 ENSG00000124092 140690.0 140690.0 """Zinc fingers, C2H2-type""" 16234.0 protein-coding gene gene with protein product """cancer/testis antigen 27""" 607022 Standard NM_080618 NM_001269040 Approved dJ579F20.2, BORIS, CT27 uc010giw.1 Q8NI51 OTTHUMG00000032829 ENST00000423479.3:c.1173G>A 20.__UNKNOWN__:g.56090777C>T A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3 __UNKNOWN__ CCDS58780.1 CTCFL-020 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000472061.1 - ENST00000423479.3 Silent SNP PCPG-TCGA-QR-A6H2-Normal-SM-5EQFX TRRAP 8295 bcgsc.ca 37 7 98609157 98609157 + Missense_Mutation SNP A A T TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr7:98609157A>T ENST00000446306.3 + 69.0 11322 c.11261A>T c.(11260-11262)aAg>aTg p.K3754M TRRAP_ENST00000355540.3_Splice_Site_p.K3736M|TRRAP_ENST00000359863.4_Splice_Site_p.K3765M Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3765.0 PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}. chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276) phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712) 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) 176.0 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) CCAAACTTTAAGGTGGGTCTC 0.622 0 51.0 48.0 49.0 7 98609157.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AF076974 CCDS5659.1, CCDS59066.1 7q21.2-q22.1 2010-06-22 ENSG00000196367 ENSG00000196367 8295.0 8295.0 12347.0 protein-coding gene gene with protein product 603015 9708738, 9885574 Standard NM_003496 NM_003496 Approved TR-AP, PAF400, Tra1 uc003upp.3 Q9Y4A5 OTTHUMG00000150403 ENST00000446306.3:c.11262+1A>T 7.__UNKNOWN__:g.98609157A>T A4D265|O75218|Q9Y631|Q9Y6H4 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 33|33 5.197742|5.197742 0.94997|0.94997 .|. .|. ENSG00000196367|ENSG00000196367 ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197 T;T|. 0.75704|. -0.96;-0.96|. 5.67|5.67 5.67|5.67 0.87782|0.87782 Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.74015|0.74015 0.3661|0.3661 M|M 0.70275|0.70275 2.135|2.135 0.80722|0.80722 D|D 1|1 D;D;D|. 0.89917|. 1.0;0.998;0.997|. D;D;D|. 0.73708|. 0.979;0.981;0.961|. T|T 0.74064|0.74064 -0.3785|-0.3785 10|5 0.66056|. D|. 0.02|. .|. 15.9204|15.9204 0.79562|0.79562 1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0 .|. 3736;3493;3765|. Q9Y4A5-2;Q59FH1;Q9Y4A5|. .;.;TRRAP_HUMAN|. M|W 3765;3736;3753|3494 ENSP00000352925:K3765M;ENSP00000347733:K3736M|. ENSP00000347733:K3736M|. K|R +|+ 2|1 0|2 TRRAP|TRRAP 98447093|98447093 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.892000|0.892000 0.51952|0.51952 8.956000|8.956000 0.93066|0.93066 2.164000|2.164000 0.68074|0.68074 0.533000|0.533000 0.62120|0.62120 AAG|AGG TRRAP-004 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000317981.3 Missense_Mutation + ENST00000446306.3 Splice_Site SNP PCPG-TCGA-QR-A6H2-Normal-SM-5EQFX WDTC1 23038 bcgsc.ca 37 1 27609861 27609861 + Missense_Mutation SNP C C T TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr1:27609861C>T ENST00000361771.3 + 5.0 595 c.212C>T c.(211-213)aCg>aTg p.T71M WDTC1_ENST00000319394.3_Missense_Mutation_p.T71M Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 71.0 cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361) cytosol (GO:0005829)|nucleus (GO:0005634) enzyme inhibitor activity (GO:0004857) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21.0 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) GACCAGCACACGATTGTGTGG 0.542 0 104.0 91.0 95.0 1 27609861.0 2203.0 4300.0 6503.0 SO:0001583 missense AK023778 CCDS296.1, CCDS60044.1 1p35.3 2013-01-11 ENSG00000142784 ENSG00000142784 23038.0 23038.0 """DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing""" 29175.0 protein-coding gene gene with protein product """adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9""" 12717455, 19238144 Standard NM_015023 NM_015023 Approved KIAA1037, ADP, DCAF9 uc009vst.3 Q8N5D0 OTTHUMG00000004273 ENST00000361771.3:c.212C>T 1.__UNKNOWN__:g.27609861C>T ENSP00000355317:p.Thr71Met D3DPL5|Q5SSC5|Q9NV87|Q9UPW4 __UNKNOWN__ CCDS296.1 . . . . . . . . . . C 15.83 2.949704 0.53186 . . ENSG00000142784 ENST00000319394;ENST00000361771 T;T 0.60299 0.2;0.2 5.35 5.35 0.76521 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.100480 0.64402 D 0.000001 T 0.42223 0.1193 N 0.20445 0.575 0.46542 D 0.999094 B;B 0.20550 0.046;0.037 B;B 0.12156 0.007;0.004 T 0.37126 -0.9719 10 0.62326 D 0.03 . 11.5177 0.50532 0.0:0.9188:0.0:0.0812 . 71;71 Q8N5D0;Q8N5D0-4 WDTC1_HUMAN;. M 71 ENSP00000317971:T71M;ENSP00000355317:T71M ENSP00000317971:T71M T + 2 0 WDTC1 27482448 1.000000 0.71417 0.951000 0.38953 0.972000 0.66771 5.699000 0.68310 2.510000 0.84645 0.655000 0.94253 ACG WDTC1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000012341.1 + ENST00000361771.3 Missense_Mutation SNP PCPG-TCGA-QR-A6H2-Normal-SM-5EQFX ABT1 29777 ucsc.edu 37 6 26598769 26598769 + Missense_Mutation SNP G G A TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr6:26598769G>A ENST00000274849.1 + 3.0 746 c.715G>A c.(715-717)Gcc>Acc p.A239T NM_013375.3 NP_037507.1 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 239.0 regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11.0 CCTGGCAACTGCCCAGGACAA 0.637 0 26.0 28.0 28.0 6 26598769.0 2200.0 4299.0 6499.0 SO:0001583 missense AB027258 CCDS4616.1 6p21.31 2008-07-07 ENSG00000146109 ENSG00000146109 29777.0 29777.0 17369.0 protein-coding gene gene with protein product 10648625 Standard NM_013375 Approved uc003nii.3 Q9ULW3 OTTHUMG00000016319 ENST00000274849.1:c.715G>A 6.__UNKNOWN__:g.26598769G>A ENSP00000274849:p.Ala239Thr __UNKNOWN__ CCDS4616.1 . . . . . . . . . . G 11.86 1.764329 0.31228 . . ENSG00000146109 ENST00000274849 . . . 5.09 5.09 0.68999 . 0.597682 0.17220 N 0.182356 T 0.17408 0.0418 N 0.22421 0.69 0.09310 N 1 B 0.22211 0.066 B 0.18871 0.023 T 0.03706 -1.1011 9 0.13470 T 0.59 -18.8025 16.7956 0.85601 0.0:0.0:1.0:0.0 . 239 Q9ULW3 ABT1_HUMAN T 239 . ENSP00000274849:A239T A + 1 0 ABT1 26706748 0.029000 0.19370 0.012000 0.15200 0.605000 0.37080 2.347000 0.44036 2.741000 0.93983 0.655000 0.94253 GCC ABT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043698.1 + ENST00000274849.1 Missense_Mutation SNP PCPG-TCGA-QR-A6H2-Normal-SM-5EQFX RPS4X 6191 ucsc.edu 37 X 71492543 71492543 + Missense_Mutation SNP G G A TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chrX:71492543G>A ENST00000316084.6 - 7.0 874 c.770C>T c.(769-771)gCg>gTg p.A257V NM_001007.4 NP_000998.1 P62701 RS4X_HUMAN ribosomal protein S4, X-linked 257.0 cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935) poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735) NS(1)|large_intestine(1) 2.0 Renal(35;0.156) CTGTTTGGCCGCCAGTCTTTT 0.453 0 45.0 36.0 39.0 X 71492543.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS14418.1 Xq13.1 2011-04-05 ENSG00000198034 ENSG00000198034 6191.0 6191.0 """S ribosomal proteins""" 10424.0 protein-coding gene gene with protein product """40S ribosomal protein S4, X isoform"", ""ribosomal protein S4X isoform"", ""single-copy abundant mRNA"", ""cell cycle gene 2""" 312760 1795030, 8139551 Standard NM_001007 NM_001007 Approved DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4 uc004ear.3 P62701 OTTHUMG00000021813 ENST00000316084.6:c.770C>T X.__UNKNOWN__:g.71492543G>A ENSP00000362744:p.Ala257Val P12631|P12750|P27576|P55831|Q14727|Q6IPY4 __UNKNOWN__ CCDS14418.1 . . . . . . . . . . G 16.79 3.220159 0.58560 . . ENSG00000198034 ENST00000316084 T 0.26810 1.71 4.52 3.57 0.40892 . 0.000000 0.64402 D 0.000001 T 0.23926 0.0579 L 0.53617 1.68 0.80722 D 1 B 0.17852 0.024 B 0.09377 0.004 T 0.10200 -1.0640 10 0.59425 D 0.04 . 10.2853 0.43564 0.0:0.0:0.8024:0.1975 . 257 P62701 RS4X_HUMAN V 257 ENSP00000362744:A257V ENSP00000362744:A257V A - 2 0 RPS4X 71409268 1.000000 0.71417 0.988000 0.46212 0.994000 0.84299 7.633000 0.83260 1.970000 0.57323 0.594000 0.82650 GCG RPS4X-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057188.1 - ENST00000316084.6 Missense_Mutation SNP PCPG-TCGA-QR-A6H2-Normal-SM-5EQFX WDR11 55717 ucsc.edu 37 10 122645451 122645451 + Splice_Site SNP G G A TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr10:122645451G>A ENST00000263461.6 + 15.0 2219 c.e15+1 WDR11_ENST00000604509.1_Splice_Site NM_018117.11 NP_060587.8 Q8WWQ0 PHIP_HUMAN WD repeat domain 11 cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38.0 CTGTGATCAGGTACAGTACAG 0.473 0 128.0 116.0 120.0 10 122645451.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AF320223 CCDS7619.1 10q26 2013-01-21 2010-01-06 2010-01-06 ENSG00000120008 ENSG00000120008 55717.0 55717.0 """WD repeat domain containing""" 13831.0 protein-coding gene gene with protein product 606417 """bromodomain and WD repeat domain containing 2""" BRWD2 10718198, 11536051 Standard NM_018117 Approved KIAA1351, FLJ10506, WDR15, HH14, DR11 uc021pzt.1 Q9BZH6 OTTHUMG00000019171 ENST00000263461.6:c.1973+1G>A 10.__UNKNOWN__:g.122645451G>A A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261 __UNKNOWN__ CCDS7619.1 . . . . . . . . . . G 22.8 4.339911 0.81911 . . ENSG00000120008 ENST00000263461 . . . 5.37 5.37 0.77165 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 19.1194 0.93357 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . WDR11 122635441 1.000000 0.71417 0.999000 0.59377 0.911000 0.54048 9.434000 0.97515 2.511000 0.84671 0.563000 0.77884 . WDR11-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050707.2 Intron + ENST00000263461.6 Splice_Site SNP PCPG-TCGA-QR-A6H2-Normal-SM-5EQFX RP1 6101 broad.mit.edu 37 8 55541350 55541350 + Silent SNP C C T TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr8:55541350C>T ENST00000220676.1 + 4.0 5056 c.4908C>T c.(4906-4908)taC>taT p.Y1636Y NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1636.0 axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601) axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750) microtubule binding (GO:0008017) 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) 169.0 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) AAAAACTGTACGGTAAAGCAG 0.373 C 1.0 0.0005 0.0028 2184.0 1.0 , , 0.0003 0.0005 0.9547 EXOME 0.0006 SNP Colon(91;1014 1389 7634 14542 40420) 0 C 0,4406 0,0,2203 89.0 93.0 92.0 4908 2.1 1.0 8 92.0 1,8597 1.2+/-3.3 0,1,4298 no coding-synonymous RP1 NM_006269.1 0,1,6501 TT,TC,CC 0.0116,0.0,0.0077 1636/2157 55541350.0 1,13003 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant AF146592 CCDS6160.1 8q12.1 2013-01-08 ENSG00000104237 6101.0 6101.0 10263.0 protein-coding gene gene with protein product 603937.0 1783394 Standard NM_006269 NM_006269 Approved DCDC4A uc003xsd.1 P56715 ENST00000220676.1:c.4908C>T 8.__UNKNOWN__:g.55541350C>T __UNKNOWN__ CCDS6160.1 RP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378532.2 + ENST00000220676.1 Silent SNP PCPG-TCGA-QR-A6H3-Normal-SM-5EQFK ELF3 1999 broad.mit.edu 37 1 201982405 201982405 + Missense_Mutation SNP G G A TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr1:201982405G>A ENST00000359651.3 + 6.0 3976 c.784G>A c.(784-786)Gag>Aag p.E262K RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.E262K|ELF3_ENST00000367284.5_Missense_Mutation_p.E262K E74-like factor 3 (ets domain transcription factor, epithelial-specific ) p.E262*(1) breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20.0 GGACTGTCTCGAGGGCAAGAA 0.632 1 Substitution - Nonsense(1) large_intestine(1) 71.0 77.0 75.0 1 201982405.0 2203.0 4300.0 6503.0 SO:0001583 missense AF016295 CCDS1419.1 1q32.2 2008-02-05 ENSG00000163435 ENSG00000163435 1999.0 1999.0 3318.0 protein-coding gene gene with protein product 602191.0 ESX 9395241, 9129154 Standard NM_004433 NM_001114309 Approved EPR-1, ESE-1, ERT uc001gxh.4 P78545 OTTHUMG00000035867 ENST00000359651.3:c.784G>A 1.__UNKNOWN__:g.201982405G>A ENSP00000352673:p.Glu262Lys __UNKNOWN__ CCDS1419.1 . . . . . . . . . . G 19.53 3.845112 0.71603 . . ENSG00000163435 ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044 T;T;T 0.13538 2.58;2.58;2.58 5.6 5.6 0.85130 Winged helix-turn-helix transcription repressor DNA-binding (1); 1.419500 0.03867 N 0.275079 T 0.21674 0.0522 M 0.67953 2.075 0.46376 D 0.999015 B 0.22541 0.071 B 0.21360 0.034 T 0.57888 -0.7733 10 0.06891 T 0.86 . 17.4077 0.87477 0.0:0.0:1.0:0.0 . 262 P78545 ELF3_HUMAN K 262;262;262;239 ENSP00000352673:E262K;ENSP00000356253:E262K;ENSP00000356252:E262K ENSP00000311348:E239K E + 1 0 ELF3 200249028 0.468000 0.25839 0.994000 0.49952 0.974000 0.67602 1.618000 0.36954 2.633000 0.89246 0.561000 0.74099 GAG ELF3-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087360.1 + ENST00000359651.3 Missense_Mutation SNP PCPG-TCGA-QR-A6H3-Normal-SM-5EQFK BPTF 2186 broad.mit.edu 37 17 65916168 65916168 + Missense_Mutation SNP T T G TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr17:65916168T>G ENST00000306378.6 + 13.0 5526 c.5466T>G c.(5464-5466)atT>atG p.I1822M BPTF_ENST00000335221.5_Missense_Mutation_p.I1948M|BPTF_ENST00000321892.4_Missense_Mutation_p.I1948M|BPTF_ENST00000424123.3_Missense_Mutation_p.I1809M NM_182641.3 NP_872579.2 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1948.0 anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589) sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) 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) 78.0 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) CAGAAATAATTAAGAGGAGAG 0.333 0 137.0 139.0 138.0 17 65916168.0 2203.0 4300.0 6503.0 SO:0001583 missense AY282495 CCDS11673.1 17q24 2013-01-28 2006-12-01 2006-12-01 ENSG00000171634 ENSG00000171634 2186.0 2186.0 """Zinc fingers, PHD-type""" 3581.0 protein-coding gene gene with protein product 601819.0 """fetal Alzheimer antigen""" FALZ 8975731, 10662542, 16728976 Standard NM_182641, NM_004459 NM_182641 Approved FAC1, NURF301 uc002jgf.3 Q12830 OTTHUMG00000132254 ENST00000306378.6:c.5466T>G 17.__UNKNOWN__:g.65916168T>G ENSP00000307208:p.Ile1822Met Q6NX67|Q7Z7D6|Q9UIG2 __UNKNOWN__ CCDS11673.1 . . . . . . . . . . T 13.44 2.237192 0.39498 . . ENSG00000171634 ENST00000306378;ENST00000335221;ENST00000321892 T;T;T 0.13538 2.58;2.58;2.58 5.65 4.58 0.56647 . . . . . T 0.27098 0.0664 L 0.50333 1.59 0.50467 D 0.999872 D;D 0.89917 0.998;1.0 D;D 0.91635 0.996;0.999 T 0.01472 -1.1346 9 0.72032 D 0.01 -15.1665 6.8063 0.23779 0.0:0.2529:0.0:0.7471 . 1822;1948 Q12830-2;Q12830-4 .;. M 1822;1948;1948 ENSP00000307208:I1822M;ENSP00000334351:I1948M;ENSP00000315454:I1948M ENSP00000307208:I1822M I + 3 3 BPTF 63346630 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 0.857000 0.27831 2.154000 0.67381 0.533000 0.62120 ATT BPTF-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000255334.2 + ENST00000306378.6 Missense_Mutation SNP PCPG-TCGA-QR-A6H3-Normal-SM-5EQFK C8orf33 65265 broad.mit.edu 37 8 146278159 146278159 + Missense_Mutation SNP G G A TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr8:146278159G>A ENST00000331434.6 + 2.0 308 c.194G>A c.(193-195)gGc>gAc p.G65D NM_023080.2 NP_075568.1 Q9H7E9 CH033_HUMAN chromosome 8 open reading frame 33 65.0 endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7.0 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.243) GATGAAGGCGGCACAGCGTCG 0.557 0 53.0 55.0 54.0 8 146278159.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS34974.1 8q24.3 2012-04-11 ENSG00000182307 ENSG00000182307 65265.0 65265.0 26104.0 protein-coding gene gene with protein product Standard NM_023080 NM_023080 Approved FLJ20989 uc003zfc.4 Q9H7E9 OTTHUMG00000165256 ENST00000331434.6:c.194G>A 8.__UNKNOWN__:g.146278159G>A ENSP00000330361:p.Gly65Asp A6NGC0|Q96BT8 __UNKNOWN__ CCDS34974.1 . . . . . . . . . . . 7.402 0.632927 0.14322 . . ENSG00000182307 ENST00000331434 . . . 2.45 -4.09 0.03951 . 1.940650 0.02738 N 0.115994 T 0.07999 0.0200 N 0.01048 -1.04 0.09310 N 1 B 0.02656 0.0 B 0.04013 0.001 T 0.10359 -1.0633 8 . . . 0.1822 0.2734 0.00235 0.2576:0.1986:0.1508:0.393 . 65 Q9H7E9 CH033_HUMAN D 65 . . G + 2 0 C8orf33 146248963 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.397000 0.07269 -0.954000 0.03640 -0.367000 0.07326 GGC C8orf33-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000382995.1 + ENST00000331434.6 Missense_Mutation SNP PCPG-TCGA-QR-A6H3-Normal-SM-5EQFK EIF2AK1 27102 broad.mit.edu 37 7 6085711 6085711 + Silent SNP A A C TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr7:6085711A>C ENST00000199389.6 - 6.0 767 c.621T>G c.(619-621)gtT>gtG p.V207V EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Silent_p.V83V NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 207.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950) cytoplasm (GO:0005737) ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27.0 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) CCTTCATGCAAACTGTTTTAG 0.254 0 77.0 75.0 76.0 7 6085711.0 2200.0 4297.0 6497.0 SO:0001819 synonymous_variant BC006524 CCDS5345.1 7p22 2005-01-20 ENSG00000086232 ENSG00000086232 27102.0 27102.0 24921.0 protein-coding gene gene with protein product """heme regulated initiation factor 2 alpha kinase""" 613635.0 7709427, 10718198 Standard NM_014413 NM_014413 Approved HRI, KIAA1369 uc003spp.3 Q9BQI3 OTTHUMG00000090689 ENST00000199389.6:c.621T>G 7.__UNKNOWN__:g.6085711A>C A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4 __UNKNOWN__ CCDS5345.1 EIF2AK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207373.2 - ENST00000199389.6 Silent SNP PCPG-TCGA-QR-A6H3-Normal-SM-5EQFK STXBP1 6812 broad.mit.edu 37 9 130434339 130434339 + Missense_Mutation SNP C C T TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr9:130434339C>T ENST00000373302.3 + 12.0 1112 c.973C>T c.(973-975)Cgg>Tgg p.R325W STXBP1_ENST00000373299.1_Missense_Mutation_p.R325W|STXBP1_ENST00000481942.1_3'UTR NM_003165.3 NP_003156.1 P61764 STXB1_HUMAN syntaxin binding protein 1 325.0 axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234) identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075) breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2) 23.0 GACCACCATGCGGGACCTGTC 0.502 0 123.0 114.0 117.0 9 130434339.0 2203.0 4300.0 6503.0 SO:0001583 missense AF004563 CCDS6874.1, CCDS35146.1 9q34.1 2008-07-21 ENSG00000136854 ENSG00000136854 6812.0 6812.0 11444.0 protein-coding gene gene with protein product """syntaxin-binding protein 1""" 602926.0 9545644 Standard NM_003165 NM_001032221 Approved hUNC18, MUNC18-1, UNC18, rbSec1 uc004brk.2 P61764 OTTHUMG00000020713 ENST00000373302.3:c.973C>T 9.__UNKNOWN__:g.130434339C>T ENSP00000362399:p.Arg325Trp B1AM97|Q28208|Q62759|Q64320|Q96TG8 __UNKNOWN__ CCDS6874.1 . . . . . . . . . . C 15.66 2.898006 0.52227 . . ENSG00000136854 ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299 T;T 0.80653 -1.4;-1.4 5.41 2.03 0.26663 . 0.000000 0.85682 D 0.000000 T 0.76737 0.4029 M 0.81112 2.525 0.58432 D 0.999999 P;P 0.46656 0.882;0.857 B;B 0.39379 0.298;0.197 T 0.76024 -0.3110 10 0.87932 D 0 -21.1243 6.3381 0.21306 0.4759:0.4339:0.0:0.0902 . 325;325 P61764;P61764-2 STXB1_HUMAN;. W 279;325;157;325 ENSP00000362399:R325W;ENSP00000362396:R325W ENSP00000362396:R325W R + 1 2 STXBP1 129474160 1.000000 0.71417 1.000000 0.80357 0.940000 0.58332 2.962000 0.49176 0.740000 0.32651 -0.258000 0.10820 CGG STXBP1-001 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000054228.1 + ENST00000373302.3 Missense_Mutation SNP PCPG-TCGA-QR-A6H3-Normal-SM-5EQFK KRTAP1-1 81851 broad.mit.edu 37 17 39197281 39197281 + Silent SNP G G A TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr17:39197281G>A ENST00000306271.4 - 1.0 432 c.369C>T c.(367-369)tgC>tgT p.C123C NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 123.0 keratin filament (GO:0045095) NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14.0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CCTCCACACGGCAGTCTGGGC 0.677 0 22.0 27.0 25.0 17 39197281.0 2052.0 4168.0 6220.0 SO:0001819 synonymous_variant AJ406926 CCDS42324.1 17q21.2 2014-06-05 ENSG00000188581 ENSG00000188581 81851.0 81851.0 """Keratin associated proteins""" 16772.0 protein-coding gene gene with protein product 608819.0 11279113 Standard NM_030967 NM_030967 Approved KAP1.1B, HB2A, KAP1.1, KAP1.1A uc002hvw.1 Q07627 OTTHUMG00000133592 ENST00000306271.4:c.369C>T 17.__UNKNOWN__:g.39197281G>A A6NC32|Q96S60|Q96S67 __UNKNOWN__ CCDS42324.1 KRTAP1-1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257696.1 - ENST00000306271.4 Silent SNP PCPG-TCGA-QR-A6H3-Normal-SM-5EQFK DLG5 9231 broad.mit.edu 37 10 79580907 79580907 + Missense_Mutation SNP C C A TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr10:79580907C>A ENST00000372391.2 - 15.0 3340 c.3335G>T c.(3334-3336)cGg>cTg p.R1112L DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'UTR NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1112.0 apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186) cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886) beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159) 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) 60.0 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) AGATTTTGGCCGGCGACGCTT 0.602 0 49.0 53.0 51.0 10 79580907.0 2203.0 4300.0 6503.0 SO:0001583 missense U61843 CCDS7353.2 10q23 2008-07-09 2001-11-28 ENSG00000151208 ENSG00000151208 9231.0 9231.0 2904.0 protein-coding gene gene with protein product 604090.0 """discs, large (Drosophila) homolog 5""" 9738934 Standard XM_005270276 Approved P-dlg, KIAA0583 uc001jzk.3 Q8TDM6 OTTHUMG00000018548 ENST00000372391.2:c.3335G>T 10.__UNKNOWN__:g.79580907C>A ENSP00000361467:p.Arg1112Leu A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3 __UNKNOWN__ CCDS7353.2 . . . . . . . . . . C 26.8 4.773090 0.90108 . . ENSG00000151208 ENST00000372391;ENST00000372392 T 0.12255 2.7 5.69 5.69 0.88448 . 0.000000 0.33534 N 0.004809 T 0.32194 0.0821 L 0.59436 1.845 0.80722 D 1 D;P 0.61697 0.99;0.856 P;P 0.58210 0.835;0.454 T 0.00605 -1.1648 10 0.59425 D 0.04 . 19.8062 0.96532 0.0:1.0:0.0:0.0 . 1002;1112 Q8TDM6-4;Q8TDM6 .;DLG5_HUMAN L 1112;661 ENSP00000361467:R1112L ENSP00000361467:R1112L R - 2 0 DLG5 79250913 1.000000 0.71417 0.989000 0.46669 0.897000 0.52465 7.267000 0.78462 2.679000 0.91253 0.655000 0.94253 CGG DLG5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048900.2 - ENST00000372391.2 Missense_Mutation SNP PCPG-TCGA-QR-A6H3-Normal-SM-5EQFK LILRB5 0 broad.mit.edu 37 19 54760448 54760448 + Missense_Mutation SNP A A T TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr19:54760448A>T ENST00000316219.5 - 3.0 366 c.259T>A c.(259-261)Tcc>Acc p.S87T LILRB5_ENST00000450632.1_Missense_Mutation_p.S87T|LILRB5_ENST00000345866.6_Missense_Mutation_p.S87T|LILRB5_ENST00000449561.2_Missense_Mutation_p.S87T NM_001081442.1|NM_006840.3 NP_001074911.1|NP_006831.1 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 87.0 Ig-like C2-type 1. cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376) integral component of membrane (GO:0016021) transmembrane signaling receptor activity (GO:0004888) 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) 56.0 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) TACACCGTGGATGGAATGTGG 0.607 0 241.0 229.0 233.0 19 54760448.0 2203.0 4300.0 6503.0 SO:0001583 missense AF025534 CCDS12885.1, CCDS42611.1, CCDS46176.1 19q13.4 2013-01-11 ENSG00000105609 ENSG00000105609 10990.0 """Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 6609.0 protein-coding gene gene with protein product 604814.0 9548455 Standard NM_006840 Approved LIR-8, LIR8, CD85c uc002qey.3 O75023 OTTHUMG00000066636 ENST00000316219.5:c.259T>A 19.__UNKNOWN__:g.54760448A>T ENSP00000320390:p.Ser87Thr Q8N760 __UNKNOWN__ CCDS12885.1 . . . . . . . . . . A 9.137 1.012775 0.19277 . . ENSG00000105609 ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866 T;T;T;T 0.10477 2.87;2.87;2.87;2.87 3.29 -6.58 0.01836 Immunoglobulin-like (1);Immunoglobulin-like fold (1); 2.157160 0.01998 N 0.046032 T 0.17152 0.0412 M 0.63843 1.955 0.09310 N 1 D;B;B;P;P 0.55172 0.97;0.06;0.01;0.751;0.617 P;B;B;B;B 0.55222 0.771;0.024;0.009;0.297;0.291 T 0.43458 -0.9390 10 0.45353 T 0.12 . 0.9926 0.01460 0.2636:0.1259:0.3605:0.2501 . 87;78;87;87;87 C9JMK7;Q8NF80;O75023-2;O75023-3;O75023 .;.;.;.;LIRB5_HUMAN T 87 ENSP00000320390:S87T;ENSP00000414225:S87T;ENSP00000406478:S87T;ENSP00000263430:S87T ENSP00000320390:S87T S - 1 0 LILRB5 59452260 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -2.953000 0.00676 -2.159000 0.00787 -0.361000 0.07541 TCC LILRB5-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000142877.2 - ENST00000316219.5 Missense_Mutation SNP PCPG-TCGA-QR-A6H3-Normal-SM-5EQFK FAT3 120114 bcgsc.ca 37 11 92600069 92600069 + Missense_Mutation SNP C C A TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr11:92600069C>A ENST00000525166.1 + 21.0 11393 c.11371C>A c.(11371-11373)Cgc>Agc p.R3791S FAT3_ENST00000409404.2_Missense_Mutation_p.R3941S|FAT3_ENST00000298047.6_Missense_Mutation_p.R3941S|FAT3_ENST00000533797.1_Missense_Mutation_p.R276S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3941.0 homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) 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) 85.0 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CGTGGAGCGGCGCCGGGCGCC 0.632 TCGA Ovarian(4;0.039) 0 31.0 35.0 34.0 11 92600069.0 1938.0 4118.0 6056.0 SO:0001583 missense AB076400 11q14.3 2013-05-31 2013-05-31 ENSG00000165323 ENSG00000165323 120114.0 120114.0 """Cadherins / Cadherin-related""" 23112.0 protein-coding gene gene with protein product """cadherin-related family member 10""" 612483 """FAT tumor suppressor homolog 3 (Drosophila)""" 11811999 Standard NM_001008781 NM_001008781 Approved KIAA1989, CDHF15, CDHR10 uc001pdj.4 Q8TDW7 OTTHUMG00000154468 ENST00000525166.1:c.11371C>A 11.__UNKNOWN__:g.92600069C>A ENSP00000432586:p.Arg3791Ser B5MDB0|Q96AU6 __UNKNOWN__ . . . . . . . . . . C 18.35 3.604665 0.66445 . . ENSG00000165323 ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797 T;T;T;T 0.77229 -1.08;-1.08;-1.08;-1.08 5.74 5.74 0.90152 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1); . . . . T 0.73140 0.3549 L 0.41415 1.275 0.80722 D 1 P;B 0.48162 0.906;0.185 P;B 0.45428 0.48;0.115 T 0.68934 -0.5278 9 0.07175 T 0.84 . 19.9226 0.97093 0.0:1.0:0.0:0.0 . 3941;3941 Q8TDW7-3;Q8TDW7 .;FAT3_HUMAN S 3941;3941;3791;276 ENSP00000298047:R3941S;ENSP00000387040:R3941S;ENSP00000432586:R3791S;ENSP00000436399:R276S ENSP00000298047:R3941S R + 1 0 FAT3 92239717 1.000000 0.71417 0.999000 0.59377 0.967000 0.64934 5.682000 0.68182 2.720000 0.93068 0.561000 0.74099 CGC FAT3-001 NOVEL not_organism_supported|basic protein_coding protein_coding OTTHUMT00000335363.3 + ENST00000525166.1 Missense_Mutation SNP PCPG-TCGA-QR-A6H3-Normal-SM-5EQFK CCDC150 284992 ucsc.edu 37 2 197521825 197521825 + Silent SNP T T C TCGA-QR-A6H3-01A-11D-A35D-08 TCGA-QR-A6H3-10A-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq fdebdcda-b632-47d0-b0d1-b6b88e9e06c8 2b45c73f-cb97-478e-8b4b-9b71354dd075 g.chr2:197521825T>C ENST00000389175.4 + 4.0 676 c.541T>C c.(541-543)Ttg>Ctg p.L181L CCDC150_ENST00000472405.2_Silent_p.L78L|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 181.0 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33.0 GGTGCAAAGGTTGACTGCCAC 0.448 0 98.0 100.0 99.0 2 197521825.0 1994.0 4178.0 6172.0 SO:0001819 synonymous_variant CCDS46478.1 2q33.1 2008-04-10 ENSG00000144395 ENSG00000144395 284992.0 284992.0 26834.0 protein-coding gene gene with protein product Standard NM_001080539 NM_001080539 Approved FLJ39660 uc002utp.1 Q8NCX0 OTTHUMG00000154475 ENST00000389175.4:c.541T>C 2.__UNKNOWN__:g.197521825T>C Q6P5U6|Q6P663|Q8N8V5 __UNKNOWN__ CCDS46478.1 CCDC150-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335377.2 + ENST00000389175.4 Silent SNP PCPG-TCGA-QR-A6H3-Normal-SM-5EQFK OR10H2 26538 broad.mit.edu 37 19 15839173 15839173 + Missense_Mutation SNP T T C TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr19:15839173T>C ENST00000305899.3 + 1.0 340 c.320T>C c.(319-321)tTc>tCc p.F107S NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 107.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27.0 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) TCCTTCAGCTTCGGCTTCACC 0.642 0 61.0 57.0 59.0 19 15839173.0 2202.0 4277.0 6479.0 SO:0001583 missense AC004597 CCDS12333.1 19p13.1 2012-08-09 ENSG00000171942 26538.0 26538.0 """GPCR / Class A : Olfactory receptors""" 8173.0 protein-coding gene gene with protein product Standard NM_013939 Approved uc002nbm.2 O60403 ENST00000305899.3:c.320T>C 19.__UNKNOWN__:g.15839173T>C ENSP00000306095:p.Phe107Ser Q6IFQ1|Q96R58 __UNKNOWN__ CCDS12333.1 . . . . . . . . . . . 12.87 2.067799 0.36470 . . ENSG00000171942 ENST00000305899 T 0.01287 5.05 3.4 1.06 0.20224 GPCR, rhodopsin-like superfamily (1); 0.000000 0.50627 D 0.000102 T 0.03608 0.0103 M 0.77616 2.38 0.09310 N 1 P 0.52692 0.955 P 0.52267 0.694 T 0.28586 -1.0039 10 0.72032 D 0.01 . 4.4973 0.11844 0.0:0.1175:0.1962:0.6863 . 107 O60403 O10H2_HUMAN S 107 ENSP00000306095:F107S ENSP00000306095:F107S F + 2 0 OR10H2 15700173 0.001000 0.12720 0.102000 0.21198 0.550000 0.35303 1.187000 0.32090 0.243000 0.21327 0.438000 0.28831 TTC OR10H2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000460917.1 + ENST00000305899.3 Missense_Mutation SNP PCPG-TCGA-QR-A6H4-Normal-SM-5EQGK NOTCH1 4851 broad.mit.edu 37 9 139395286 139395286 + Silent SNP C C T TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr9:139395286C>T ENST00000277541.6 - 31.0 5727 c.5652G>A c.(5650-5652)ccG>ccA p.P1884P NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1884.0 anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) 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) 1359.0 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CGATCATGAGCGGGGTGAAGC 0.692 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) Dom yes 9 9q34.3 4851.0 """Notch homolog 1, translocation-associated (Drosophila) (TAN1)""" L 0 12.0 15.0 14.0 9 139395286.0 1987.0 4152.0 6139.0 SO:0001819 synonymous_variant AF308602 CCDS43905.1 9q34.3 2013-01-10 2010-06-24 ENSG00000148400 ENSG00000148400 4851.0 4851.0 """Ankyrin repeat domain containing""" 7881.0 protein-coding gene gene with protein product 190198.0 """Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)""" TAN1 1831692 Standard NM_017617 NM_017617 Approved uc004chz.3 P46531 OTTHUMG00000020935 ENST00000277541.6:c.5652G>A 9.__UNKNOWN__:g.139395286C>T Q59ED8|Q5SXM3 __UNKNOWN__ CCDS43905.1 NOTCH1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055087.1 - ENST00000277541.6 Silent SNP PCPG-TCGA-QR-A6H4-Normal-SM-5EQGK GATAD2B 57459 broad.mit.edu 37 1 153784291 153784291 + Missense_Mutation SNP T T C TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr1:153784291T>C ENST00000368655.4 - 10.0 1807 c.1564A>G c.(1564-1566)Ata>Gta p.I522V NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 522.0 ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351) nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38.0 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GATGTGGGTATGCCACGCTGG 0.517 0 59.0 57.0 58.0 1 153784291.0 2203.0 4300.0 6503.0 SO:0001583 missense AF411836 CCDS1054.1 1q21.3 2013-01-25 ENSG00000143614 ENSG00000143614 57459.0 57459.0 """GATA zinc finger domain containing""" 30778.0 protein-coding gene gene with protein product """transcription repressor p66 beta component of the MeCP1 complex""" 614998.0 10574461, 11756549 Standard NM_020699 NM_020699 Approved P66beta uc001fdb.4 Q8WXI9 OTTHUMG00000037162 ENST00000368655.4:c.1564A>G 1.__UNKNOWN__:g.153784291T>C ENSP00000357644:p.Ile522Val D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0 __UNKNOWN__ CCDS1054.1 . . . . . . . . . . T 6.791 0.514980 0.12944 . . ENSG00000143614 ENST00000368655 T 0.31247 1.5 5.52 5.52 0.82312 . 0.172208 0.51477 D 0.000084 T 0.06234 0.0161 N 0.11427 0.14 0.30365 N 0.783436 B 0.18461 0.028 B 0.14578 0.011 T 0.15292 -1.0442 10 0.08599 T 0.76 -16.6883 14.7594 0.69593 0.0:0.0:0.0:1.0 . 522 Q8WXI9 P66B_HUMAN V 522 ENSP00000357644:I522V ENSP00000357644:I522V I - 1 0 GATAD2B 152050915 1.000000 0.71417 0.996000 0.52242 0.996000 0.88848 2.206000 0.42779 2.317000 0.78254 0.460000 0.39030 ATA GATAD2B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090305.1 - ENST00000368655.4 Missense_Mutation SNP PCPG-TCGA-QR-A6H4-Normal-SM-5EQGK SEC16B 89866 broad.mit.edu 37 1 177928060 177928060 + Missense_Mutation SNP G G T TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr1:177928060G>T ENST00000308284.6 - 9.0 1138 c.1049C>A c.(1048-1050)gCt>gAt p.A350D SEC16B_ENST00000464631.2_Missense_Mutation_p.A351D|RP4-798P15.3_ENST00000354921.3_RNA NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 350.0 COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031) endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35.0 GCAGCTCTGAGCTGCTTTCTG 0.483 0 66.0 66.0 66.0 1 177928060.0 1916.0 4134.0 6050.0 SO:0001583 missense AK090411 CCDS44281.1 1q25.2 2012-10-08 2007-06-20 2007-06-20 ENSG00000120341 ENSG00000120341 89866.0 89866.0 30301.0 protein-coding gene gene with protein product """regucalcin gene promotor region related protein""" 612855.0 """leucine zipper transcription regulator 2""" LZTR2 11572484, 11605020 Standard NM_033127 NM_033127 Approved RGPR, PGPR-p117 uc001gli.1 Q96JE7 OTTHUMG00000167206 ENST00000308284.6:c.1049C>A 1.__UNKNOWN__:g.177928060G>T ENSP00000308339:p.Ala350Asp A3EYF1|Q5HYF6|Q8N7D6|Q96GX6 __UNKNOWN__ CCDS44281.1 . . . . . . . . . . G 15.75 2.926504 0.52759 . . ENSG00000120341 ENST00000308284;ENST00000239472;ENST00000464631 T;T 0.46819 0.86;0.86 5.08 1.08 0.20341 Sec16, central conserved domain (1); 0.486350 0.20662 N 0.088011 T 0.52306 0.1726 M 0.69823 2.125 0.24323 N 0.995034 D;P;B;P 0.53745 0.962;0.909;0.066;0.909 P;P;B;P 0.56088 0.791;0.791;0.155;0.751 T 0.43972 -0.9358 10 0.19590 T 0.45 -0.0032 6.1247 0.20172 0.2105:0.2476:0.5419:0.0 . 351;351;350;47 E9PK14;B1AM08;Q96JE7;Q96PW0 .;.;SC16B_HUMAN;. D 350;65;351 ENSP00000308339:A350D;ENSP00000431727:A351D ENSP00000239472:A65D A - 2 0 AL359075.1 176194683 0.420000 0.25457 0.707000 0.30419 0.946000 0.59487 0.465000 0.22004 0.012000 0.14892 -0.812000 0.03155 GCT SEC16B-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000084773.16 - ENST00000308284.6 Missense_Mutation SNP PCPG-TCGA-QR-A6H4-Normal-SM-5EQGK MRPL13 28998 broad.mit.edu 37 8 121432125 121432125 + Silent SNP T T G TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr8:121432125T>G ENST00000306185.3 - 5.0 651 c.360A>C c.(358-360)acA>acC p.T120T NM_014078.5 NP_054797.2 Q9BYD1 RM13_HUMAN mitochondrial ribosomal protein L13 120.0 translation (GO:0006412) mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 6.0 Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TTTCCATCATTGTTCTTCTGT 0.323 0 94.0 88.0 90.0 8 121432125.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant AB049640 CCDS6332.1 8q22.1-q22.3 2012-09-13 ENSG00000172172 ENSG00000172172 28998.0 28998.0 """Mitochondrial ribosomal proteins / large subunits""" 14278.0 protein-coding gene gene with protein product 610200.0 11543634 Standard NM_014078 NM_014078 Approved L13, RPL13, L13mt, RPML13, L13A uc003ypa.3 Q9BYD1 OTTHUMG00000165039 ENST00000306185.3:c.360A>C 8.__UNKNOWN__:g.121432125T>G B2R4R8|Q9UI04 __UNKNOWN__ CCDS6332.1 MRPL13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381523.1 - ENST00000306185.3 Silent SNP PCPG-TCGA-QR-A6H4-Normal-SM-5EQGK TACC2 10579 broad.mit.edu 37 10 123810032 123810032 + Missense_Mutation SNP C C T TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr10:123810032C>T ENST00000369005.1 + 3.0 453 c.113C>T c.(112-114)aCg>aTg p.T38M TACC2_ENST00000334433.3_Missense_Mutation_p.T38M|TACC2_ENST00000513429.1_Missense_Mutation_p.T38M|TACC2_ENST00000515273.1_Missense_Mutation_p.T38M|TACC2_ENST00000453444.2_Missense_Mutation_p.T38M|TACC2_ENST00000515603.1_Missense_Mutation_p.T38M|TACC2_ENST00000358010.1_Missense_Mutation_p.T38M NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 38.0 astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634) nuclear hormone receptor binding (GO:0035257) p.T38M(1) 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) 83.0 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CAGCAGGACACGCCCGGAAGC 0.577 1 Substitution - Missense(1) kidney(1) 48.0 50.0 49.0 10 123810032.0 2203.0 4300.0 6503.0 SO:0001583 missense AF095791 CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1 10q26 2008-07-29 ENSG00000138162 ENSG00000138162 10579.0 10579.0 11523.0 protein-coding gene gene with protein product 605302.0 14767476 Standard XM_005269388 Approved AZU-1 uc001lfv.3 O95359 OTTHUMG00000019181 ENST00000369005.1:c.113C>T 10.__UNKNOWN__:g.123810032C>T ENSP00000358001:p.Thr38Met Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5 __UNKNOWN__ CCDS7626.1 . . . . . . . . . . C 12.64 1.999316 0.35226 . . ENSG00000138162 ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076 T;T;T;T;T;T;T 0.56444 0.46;0.46;4.05;4.05;0.46;0.46;4.05 4.39 1.01 0.19927 . . . . . T 0.27027 0.0662 N 0.14661 0.345 0.09310 N 1 P;P;B;P 0.45715 0.865;0.865;0.434;0.865 B;B;B;B 0.32805 0.153;0.153;0.055;0.153 T 0.10474 -1.0628 9 0.59425 D 0.04 2.2023 6.1553 0.20334 0.2884:0.5869:0.0:0.1246 . 38;38;38;38 E9PBC6;E7EMZ9;O95359-5;O95359 .;.;.;TACC2_HUMAN M 38;38;38;38;38;38;38;28 ENSP00000358001:T38M;ENSP00000425062:T38M;ENSP00000424467:T38M;ENSP00000427618:T38M;ENSP00000334280:T38M;ENSP00000350701:T38M;ENSP00000395048:T38M ENSP00000334280:T38M T + 2 0 TACC2 123800022 0.000000 0.05858 0.000000 0.03702 0.463000 0.32649 0.086000 0.14935 0.096000 0.17463 0.655000 0.94253 ACG TACC2-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000090004.1 + ENST00000369005.1 Missense_Mutation SNP PCPG-TCGA-QR-A6H4-Normal-SM-5EQGK HPS3 84343 broad.mit.edu 37 3 148868448 148868448 + Missense_Mutation SNP A A G TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr3:148868448A>G ENST00000460120.1 + 5.0 817 c.731A>G c.(730-732)tAc>tGc p.Y244C HPS3_ENST00000296051.2_Missense_Mutation_p.Y409C Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 409.0 organelle organization (GO:0006996)|pigmentation (GO:0043473) BLOC-2 complex (GO:0031084) breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34.0 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GAGGACCCGTACATGGACACC 0.517 Hermansky-Pudlak syndrome 0 129.0 115.0 120.0 3 148868448.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database HPS, HPS1-8 AY033141 CCDS3140.1 3q24 2014-06-18 ENSG00000163755 ENSG00000163755 84343.0 84343.0 15597.0 protein-coding gene gene with protein product 606118.0 11455388 Standard NM_032383 NM_032383 Approved SUTAL uc003ewu.1 Q969F9 OTTHUMG00000159548 ENST00000460120.1:c.731A>G 3.__UNKNOWN__:g.148868448A>G ENSP00000418230:p.Tyr244Cys A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608 __UNKNOWN__ . . . . . . . . . . A 21.8 4.202960 0.79127 . . ENSG00000163755 ENST00000296051;ENST00000460120 T;T 0.64260 -0.09;-0.09 5.27 5.27 0.74061 . 0.133611 0.52532 D 0.000068 T 0.78046 0.4222 M 0.70275 2.135 0.50632 D 0.999884 D;D 0.89917 1.0;1.0 D;D 0.79108 0.992;0.986 T 0.80968 -0.1145 10 0.87932 D 0 -8.1335 15.4791 0.75511 1.0:0.0:0.0:0.0 . 244;409 G5E9V4;Q969F9 .;HPS3_HUMAN C 409;244 ENSP00000296051:Y409C;ENSP00000418230:Y244C ENSP00000296051:Y409C Y + 2 0 HPS3 150351138 1.000000 0.71417 0.953000 0.39169 0.996000 0.88848 7.825000 0.86693 2.119000 0.64992 0.528000 0.53228 TAC HPS3-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000356153.1 + ENST00000460120.1 Missense_Mutation SNP PCPG-TCGA-QR-A6H4-Normal-SM-5EQGK PTPRK 5796 broad.mit.edu 37 6 128643275 128643275 + Missense_Mutation SNP G G A TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr6:128643275G>A ENST00000368213.5 - 3.0 628 c.404C>T c.(403-405)gCc>gTc p.A135V PTPRK_ENST00000368215.3_Missense_Mutation_p.A135V|PTPRK_ENST00000368210.3_Missense_Mutation_p.A135V|PTPRK_ENST00000368226.4_Missense_Mutation_p.A135V|PTPRK_ENST00000368227.3_Missense_Mutation_p.A135V|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Missense_Mutation_p.A135V|PTPRK_ENST00000368207.3_Missense_Mutation_p.A135V|PTPRK_ENST00000525459.1_Missense_Mutation_p.A135V NM_001135648.1 NP_001129120.1 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 135.0 MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}. cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179) axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750) beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) 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) 72.0 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) AATTGGATTGGCAAGAGGTCC 0.433 G 0.0 0.0 2184.0 1.0 , , 0.0003 0.0 0.0 EXOME 0.0008 SNP 0 131.0 125.0 127.0 6 128643275.0 2203.0 4299.0 6502.0 SO:0001583 missense L77886 CCDS5137.1, CCDS47473.1, CCDS75517.1 6q22.2-q22.3 2013-02-11 ENSG00000152894 ENSG00000152894 5796.0 5796.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 9674.0 protein-coding gene gene with protein product 602545.0 9047348, 8663237 Standard NM_002844 Approved R-PTP-kappa uc010kfc.3 Q15262 OTTHUMG00000015536 ENST00000368213.5:c.404C>T 6.__UNKNOWN__:g.128643275G>A ENSP00000357196:p.Ala135Val B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11 __UNKNOWN__ CCDS47473.1 0|0 0.0|0.0 0|0 0.0|0.0 0|0 0.0|0.0 0|0 0.0|0.0 0|0 0.0|0.0 G|G 20.3|20.3 3.973739|3.973739 0.74246|0.74246 .|. .|. ENSG00000152894|ENSG00000152894 ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000525459|ENST00000490332 T;T;T;T;T;T;T;T|. 0.02197|. 4.4;4.4;4.4;4.4;4.4;4.4;4.4;4.4|. 6.06|6.06 6.06|6.06 0.98353|0.98353 Concanavalin A-like lectin/glucanase (1);MAM domain (3);|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.61035|0.61035 0.2315|0.2315 L|L 0.43152|0.43152 1.355|1.355 0.43782|0.43782 D|D 0.996311|0.996311 B;B;B;D;B;B|. 0.52996|. 0.021;0.174;0.38;0.957;0.003;0.002|. B;B;B;P;B;B|. 0.46758|. 0.019;0.328;0.22;0.526;0.007;0.004|. T|T 0.54296|0.54296 -0.8315|-0.8315 10|5 0.72032|. D|. 0.01|. .|. 19.6279|19.6279 0.95687|0.95687 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 135;135;135;135;135;135|. B4DHC3;B7ZMG0;Q15262-3;E9PRW2;Q15262;Q15262-2|. .;.;.;.;PTPRK_HUMAN;.|. V|S 135|18 ENSP00000357209:A135V;ENSP00000357210:A135V;ENSP00000432973:A135V;ENSP00000357196:A135V;ENSP00000357193:A135V;ENSP00000357198:A135V;ENSP00000357190:A135V;ENSP00000434116:A135V|. ENSP00000357190:A135V|. A|P -|- 2|1 0|0 PTPRK|PTPRK 128684968|128684968 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.997000|0.997000 0.91878|0.91878 4.274000|4.274000 0.58921|0.58921 2.880000|2.880000 0.98712|0.98712 0.650000|0.650000 0.86243|0.86243 GCC|CCA PTPRK-019 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000390044.2 - ENST00000368213.5 Missense_Mutation SNP PCPG-TCGA-QR-A6H4-Normal-SM-5EQGK C1orf200 644997 broad.mit.edu 37 1 9713899 9713899 + Missense_Mutation SNP G G C TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr1:9713899G>C ENST00000377320.3 - 2.0 591 c.442C>G c.(442-444)Cag>Gag p.Q148E PIK3CD_ENST00000536656.1_Intron|PIK3CD_ENST00000377346.4_Intron chromosome 1 open reading frame 200 endometrium(1)|large_intestine(2)|lung(5)|pancreas(1) 9.0 all_lung(157;0.222) 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;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419) GCGGCTTCCTGGGCTTGGTCC 0.527 0 98.0 102.0 101.0 1 9713899.0 1875.0 4112.0 5987.0 SO:0001583 missense BC016063 1p36.22 2008-10-22 ENSG00000179840 ENSG00000179840 644997.0 644997.0 32346.0 protein-coding gene gene with protein product Standard NM_001045478 NR_027045 Approved uc001aqc.4 Q5SR53 OTTHUMG00000001452 ENST00000377320.3:c.442C>G 1.__UNKNOWN__:g.9713899G>C ENSP00000366537:p.Gln148Glu __UNKNOWN__ . . . . . . . . . . G 4.891 0.165538 0.09339 . . ENSG00000179840 ENST00000377320 . . . 2.17 0.269 0.15631 . . . . . T 0.26991 0.0661 . . . 0.09310 N 1 P 0.40834 0.73 B 0.41236 0.351 T 0.13602 -1.0503 7 0.45353 T 0.12 . 4.2249 0.10575 0.358:0.0:0.642:0.0 . 148 Q5SR53 CA200_HUMAN E 148 . ENSP00000366537:Q148E Q - 1 0 C1orf200 9636486 0.000000 0.05858 0.001000 0.08648 0.006000 0.05464 -0.149000 0.10204 0.070000 0.16634 0.655000 0.94253 CAG C1orf200-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000004245.1 - ENST00000377320.3 Missense_Mutation SNP PCPG-TCGA-QR-A6H4-Normal-SM-5EQGK PRMT1 0 broad.mit.edu 37 19 50189933 50189933 + Missense_Mutation SNP G G T TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr19:50189933G>T ENST00000391851.4 + 9.0 1057 c.928G>T c.(928-930)Ggc>Tgc p.G310C PRMT1_ENST00000454376.2_Missense_Mutation_p.G328C|PRMT1_ENST00000532489.1_Missense_Mutation_p.G282C NM_198318.4 NP_938074.2 Q99873 ANM1_HUMAN protein arginine methyltransferase 1 318.0 SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}. cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242) cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2) 12.0 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;0.00103)|GBM - Glioblastoma multiforme(134;0.012) CGTGAAGACGGGCGAGGAGAT 0.682 0 51.0 45.0 47.0 19 50189933.0 2203.0 4300.0 6503.0 SO:0001583 missense D66904 CCDS42592.1, CCDS46145.1, CCDS74425.1 19q13 2014-06-12 2006-02-16 2006-02-16 ENSG00000126457 ENSG00000126457 3276.0 3276.0 2.1.1.125 """Protein arginine methyltransferases""" 5187.0 protein-coding gene gene with protein product 602950.0 """HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2"", ""HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)""" HRMT1L2 9545638 Standard NM_001536 NM_001207042 Approved HCP1, ANM1 uc010enf.2 Q99873 OTTHUMG00000167568 ENST00000391851.4:c.928G>T 19.__UNKNOWN__:g.50189933G>T ENSP00000375724:p.Gly310Cys B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06 __UNKNOWN__ CCDS42592.1 . . . . . . . . . . g 17.78 3.473786 0.63737 . . ENSG00000126457 ENST00000532489;ENST00000391851;ENST00000454376 D;D;D 0.86865 -2.18;-2.18;-2.18 4.34 4.34 0.51931 . 0.000000 0.85682 D 0.000000 D 0.94771 0.8312 M 0.93550 3.43 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.79784 0.984;0.984;0.993;0.989 D 0.95924 0.8933 10 0.87932 D 0 -16.1853 14.3935 0.66996 0.0:0.0:1.0:0.0 . 318;282;310;304 Q99873;E9PKG1;G5E9B6;Q99873-2 ANM1_HUMAN;.;.;. C 282;310;328 ENSP00000433556:G282C;ENSP00000375724:G310C;ENSP00000406162:G328C ENSP00000375724:G310C G + 1 0 PRMT1 54881745 1.000000 0.71417 0.996000 0.52242 0.042000 0.13812 9.356000 0.97091 2.250000 0.74265 0.447000 0.29281 GGC PRMT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395065.1 + ENST00000391851.4 Missense_Mutation SNP PCPG-TCGA-QR-A6H4-Normal-SM-5EQGK AHNAK2 113146 broad.mit.edu 37 14 105406664 105406664 + Missense_Mutation SNP G G C TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr14:105406664G>C ENST00000557457.1 - 3.0 361 c.118C>G c.(118-120)Cag>Gag p.Q40E AHNAK2_ENST00000333244.5_Missense_Mutation_p.Q5042E Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5042.0 costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33.0 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) ACGTCTCTCTGTGGCAGGCTG 0.552 0 107.0 112.0 110.0 14 105406664.0 1995.0 4178.0 6173.0 SO:0001583 missense AB095939 CCDS45177.1 14q32.33 2010-04-01 2007-03-26 2007-03-26 ENSG00000185567 ENSG00000185567 113146.0 113146.0 20125.0 protein-coding gene gene with protein product 608570.0 """chromosome 14 open reading frame 78""" C14orf78 15007166 Standard NM_138420 NM_138420 Approved uc010axc.1 Q8IVF2 ENST00000557457.1:c.118C>G 14.__UNKNOWN__:g.105406664G>C ENSP00000450998:p.Gln40Glu Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9 __UNKNOWN__ . . . . . . . . . . G 2.911 -0.225406 0.06022 . . ENSG00000185567 ENST00000557457;ENST00000333244 T;T 0.01821 4.62;5.42 3.62 -0.876 0.10624 . 3.052920 0.02092 U 0.053205 T 0.01353 0.0044 L 0.33485 1.01 0.09310 N 1 B 0.33103 0.397 B 0.30316 0.114 T 0.42649 -0.9439 10 0.06757 T 0.87 . 0.2922 0.00260 0.214:0.2374:0.2371:0.3114 . 5042 Q8IVF2 AHNK2_HUMAN E 40;5042 ENSP00000450998:Q40E;ENSP00000353114:Q5042E ENSP00000353114:Q5042E Q - 1 0 AHNAK2 104477709 0.000000 0.05858 0.000000 0.03702 0.014000 0.08584 0.201000 0.17276 0.171000 0.19730 0.561000 0.74099 CAG AHNAK2-003 PUTATIVE basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000410299.1 - ENST00000557457.1 Missense_Mutation SNP PCPG-TCGA-QR-A6H4-Normal-SM-5EQGK HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr11:533874T>C ENST00000451590.1 - 3.0 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R NM_001130442.1|NM_005343.2 NP_001123914.1|NP_005334.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61.0 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022) p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901.0 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6.0 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) yes Dom yes Costello syndrome 11 11p15.5 3265.0 v-Ha-ras Harvey rat sarcoma viral oncogene homolog """E, L, M""" 256 Substitution - Missense(256) skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1) 117.0 102.0 107.0 11 533874.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Facio-Cutaneous-Skeletal syndrome AJ437024 CCDS7698.1, CCDS7699.1 11p15.5 2014-09-17 2013-07-08 ENSG00000174775 ENSG00000174775 3265.0 3265.0 5173.0 protein-coding gene gene with protein product 190020.0 """v-Ha-ras Harvey rat sarcoma viral oncogene homolog""" HRAS1 Standard NM_176795 NM_176795 Approved uc010qvx.2 P01112 OTTHUMG00000131919 ENST00000451590.1:c.182A>G 11.__UNKNOWN__:g.533874T>C ENSP00000407586:p.Gln61Arg B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2 __UNKNOWN__ CCDS7698.1 . . . . . . . . . . T 14.48 2.546606 0.45383 . . ENSG00000174775 ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189 D;D;D;D;D 0.83673 -1.75;-1.75;-1.75;-1.75;-1.75 3.64 3.64 0.41730 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85613 0.5737 M 0.90870 3.155 0.80722 D 1 B;B 0.21071 0.051;0.008 B;B 0.22152 0.022;0.038 D 0.85970 0.1476 10 0.66056 D 0.02 . 11.8872 0.52608 0.0:0.0:0.0:1.0 . 61;61 P01112-2;P01112 .;RASH_HUMAN R 61 ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R ENSP00000309845:Q61R Q - 2 0 HRAS 523874 1.000000 0.71417 0.985000 0.45067 0.482000 0.33219 7.727000 0.84838 1.662000 0.50781 0.459000 0.35465 CAG HRAS-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259403.2 - ENST00000451590.1 Missense_Mutation SNP PCPG-TCGA-QR-A6H4-Normal-SM-5EQGK ADAMTS16 170690 broad.mit.edu 37 5 5239326 5239326 + Silent SNP C C T TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr5:5239326C>T ENST00000274181.7 + 15.0 2355 c.2217C>T c.(2215-2217)aaC>aaT p.N739N NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 739.0 Cys-rich. branching involved in ureteric bud morphogenesis (GO:0001658) proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) p.N739N(4) 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) 107.0 GGGTGTGTAACGGGAATAACT 0.512 4 Substitution - coding silent(4) lung(4) C 3,4121 0,3,2059 258.0 253.0 255.0 2217 0.4 0.6 5 255.0 2,8424 0,2,4211 no coding-synonymous ADAMTS16 NM_139056.2 0,5,6270 TT,TC,CC 0.0237,0.0727,0.0398 739/1225 5239326.0 5,12545 2062.0 4213.0 6275.0 SO:0001819 synonymous_variant AJ315734 CCDS43299.1 5p15 2008-07-18 2005-08-19 ENSG00000145536 ENSG00000145536 170690.0 170690.0 """ADAM metallopeptidases with thrombospondin type 1 motif""" 17108.0 protein-coding gene gene with protein product 607510.0 """a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16""" 11867212 Standard NM_139056 NM_139056 Approved ADAMTS16s uc003jdl.3 Q8TE57 OTTHUMG00000161663 ENST00000274181.7:c.2217C>T 5.__UNKNOWN__:g.5239326C>T C6G490|Q8IVE2 __UNKNOWN__ CCDS43299.1 ADAMTS16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000365657.1 + ENST00000274181.7 Silent SNP PCPG-TCGA-QR-A6H4-Normal-SM-5EQGK HNRNPM 4670 broad.mit.edu 37 19 8550556 8550556 + Missense_Mutation SNP G G A TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr19:8550556G>A ENST00000325495.4 + 14.0 1285 c.1244G>A c.(1243-1245)gGc>gAc p.G415D HNRNPM_ENST00000348943.3_Missense_Mutation_p.G376D NM_005968.4 NP_005959.2 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 415.0 27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV]. alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723) endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25.0 GGGGGTGCCGGCATGGAGCGC 0.672 0 89.0 98.0 95.0 19 8550556.0 2203.0 4300.0 6503.0 SO:0001583 missense L03532 CCDS12203.1, CCDS12204.1 19p13.2 2013-06-12 2008-04-18 ENSG00000099783 ENSG00000099783 4670.0 4670.0 """RNA binding motif (RRM) containing""" 5046.0 protein-coding gene gene with protein product """CEA receptor""" 160994.0 NAGR1, HNRPM 8441656, 7558047 Standard NM_005968 Approved HTGR1, HNRNPM4, HNRPM4, CEAR uc010dwe.3 P52272 OTTHUMG00000182383 ENST00000325495.4:c.1244G>A 19.__UNKNOWN__:g.8550556G>A ENSP00000325376:p.Gly415Asp Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492 __UNKNOWN__ CCDS12203.1 . . . . . . . . . . G 14.87 2.663675 0.47572 . . ENSG00000099783 ENST00000325495;ENST00000348943;ENST00000544159 T;T 0.15718 2.4;2.72 5.76 5.76 0.90799 . 0.148764 0.64402 D 0.000011 T 0.33147 0.0853 M 0.76170 2.325 0.58432 D 0.999998 P;D;B;B 0.64830 0.954;0.994;0.383;0.265 P;P;B;B 0.51229 0.554;0.663;0.165;0.099 T 0.02156 -1.1204 10 0.28530 T 0.3 . 18.534 0.91002 0.0:0.0:1.0:0.0 . 255;415;376;300 Q7KYM9;P52272;P52272-2;Q59ES8 .;HNRPM_HUMAN;.;. D 415;376;300 ENSP00000325376:G415D;ENSP00000325732:G376D ENSP00000325376:G415D G + 2 0 HNRNPM 8456556 1.000000 0.71417 0.999000 0.59377 0.694000 0.40290 4.703000 0.61824 2.724000 0.93272 0.491000 0.48974 GGC HNRNPM-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000460894.1 + ENST00000325495.4 Missense_Mutation SNP PCPG-TCGA-QR-A6H4-Normal-SM-5EQGK USP34 9736 broad.mit.edu 37 2 61544839 61544839 + Missense_Mutation SNP T T A TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr2:61544839T>A ENST00000398571.2 - 23.0 3308 c.3232A>T c.(3232-3234)Aac>Tac p.N1078Y NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1078.0 positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055) cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) 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) 138.0 Epithelial(17;0.229) CGAGCCAAGTTACAGAGATGC 0.398 0 99.0 95.0 96.0 2 61544839.0 1862.0 4107.0 5969.0 SO:0001583 missense AB011142 CCDS42686.1 2p16.1-p15 2005-08-08 2005-08-08 ENSG00000115464 ENSG00000115464 9736.0 9736.0 """Ubiquitin-specific peptidases""" 20066.0 protein-coding gene gene with protein product 615295.0 """ubiquitin specific protease 34""" 12838346 Standard NM_014709 Approved KIAA0570, KIAA0729 uc002sbe.3 Q70CQ2 OTTHUMG00000152265 ENST00000398571.2:c.3232A>T 2.__UNKNOWN__:g.61544839T>A ENSP00000381577:p.Asn1078Tyr A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1 __UNKNOWN__ CCDS42686.1 . . . . . . . . . . T 24.4 4.525099 0.85600 . . ENSG00000115464 ENST00000263989;ENST00000398569;ENST00000398571 T 0.03982 3.74 5.23 5.23 0.72850 . 0.000000 0.85682 D 0.000000 T 0.13884 0.0336 L 0.38175 1.15 0.80722 D 1 D 0.65815 0.995 D 0.72982 0.979 T 0.01617 -1.1311 10 0.54805 T 0.06 . 15.1398 0.72601 0.0:0.0:0.0:1.0 . 1078 Q70CQ2 UBP34_HUMAN Y 926;926;1078 ENSP00000381577:N1078Y ENSP00000263989:N926Y N - 1 0 USP34 61398343 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 7.736000 0.84948 1.974000 0.57490 0.477000 0.44152 AAC USP34-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000325650.4 - ENST00000398571.2 Missense_Mutation SNP PCPG-TCGA-QR-A6H4-Normal-SM-5EQGK RAI1 10743 broad.mit.edu 37 17 17696337 17696350 + Frame_Shift_Del DEL ACGCCTAGAGAATT ACGCCTAGAGAATT - rs139160898 TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr17:17696337_17696350delACGCCTAGAGAATT ENST00000353383.1 + 3.0 544_557 c.75_88delACGCCTAGAGAATT c.(73-90)tcacgcctagagaattacfs p.RLENY26fs RAI1_ENST00000261641.6_Frame_Shift_Del_p.RLENY26fs NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 26.0 circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501) cytoplasm (GO:0005737)|nucleus (GO:0005634) enhancer binding (GO:0035326)|zinc ion binding (GO:0008270) 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) 48.0 READ - Rectum adenocarcinoma(1115;0.0276) AGGAAACATCACGCCTAGAGAATTACAGGCAGCC 0.556 0 SO:0001589 frameshift_variant AJ230819 CCDS11188.1 17p11.2 2011-02-08 ENSG00000108557 ENSG00000108557 10743.0 10743.0 9834.0 protein-coding gene gene with protein product 607642.0 """Smith-Magenis syndrome chromosome region""" SMCR 10036180 Standard NM_030665 NM_030665 Approved DKFZP434A139, SMS, KIAA1820, MGC12824 uc002grm.3 Q7Z5J4 OTTHUMG00000059314 ENST00000353383.1:c.75_88delACGCCTAGAGAATT 17.__UNKNOWN__:g.17696337_17696350delACGCCTAGAGAATT ENSP00000323074:p.Arg26fs Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69 __UNKNOWN__ CCDS11188.1 RAI1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000131775.1 + ENST00000353383.1 Frame_Shift_Del DEL PCPG-TCGA-QR-A6H4-Normal-SM-5EQGK AHNAK 79026 bcgsc.ca 37 11 62201365 62201365 + Splice_Site SNP T T C TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr11:62201365T>C ENST00000525875.1 - 3.0 448 c.e3-2 AHNAK_ENST00000257247.7_Splice_Site|AHNAK_ENST00000530124.1_Splice_Site Q09666 AHNK_HUMAN AHNAK nucleoprotein protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385) actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982) poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493) 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) 268.0 Melanoma(852;0.155) TCTACAGTCCTGTAAAACAAC 0.383 0 106.0 98.0 100.0 11 62201365.0 1852.0 4087.0 5939.0 SO:0001630 splice_region_variant M80899 CCDS31584.1, CCDS44625.1 11q12-q13 2008-02-05 2007-03-30 ENSG00000124942 ENSG00000124942 79026.0 79026.0 347.0 protein-coding gene gene with protein product """desmoyokin""" 103390 """AHNAK nucleoprotein (desmoyokin)""" 7987395, 12153988 Standard NM_024060 NM_024060 Approved MGC5395 uc001ntl.3 Q09666 OTTHUMG00000167558 ENST00000525875.1:c.346-2A>G 11.__UNKNOWN__:g.62201365T>C A1A586 __UNKNOWN__ . . . . . . . . . . T 14.92 2.678989 0.47886 . . ENSG00000124942 ENST00000530124;ENST00000257247 . . . 3.65 3.65 0.41850 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 8.9709 0.35905 0.0:0.0:0.0:1.0 . . . . . -1 . . . - . . AHNAK 61957941 1.000000 0.71417 1.000000 0.80357 0.758000 0.43043 2.861000 0.48380 1.880000 0.54463 0.533000 0.62120 . AHNAK-012 PUTATIVE basic|exp_conf processed_transcript protein_coding OTTHUMT00000395571.1 Intron - ENST00000525875.1 Splice_Site SNP PCPG-TCGA-QR-A6H4-Normal-SM-5EQGK Unknown 1818 bcgsc.ca 37 1 148903074 148903074 + RNA SNP T T A TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr1:148903074T>A RP11-763B22.6 (49357 upstream) : RNA5SP59 (10198 downstream) GCCATCATGATCGTGACCTAC 0.607 0 SO:0001628 intergenic_variant 1.__UNKNOWN__:g.148903074T>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A6H4-Normal-SM-5EQGK ACACB 32 ucsc.edu 37 12 109703079 109703079 + Silent SNP T T C TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 7410ae79-39b1-4022-93b3-2adc9437c57c 3d83a509-b5b1-4a16-8a99-05b4f94876b7 g.chr12:109703079T>C ENST00000338432.7 + 51.0 7226 c.7107T>C c.(7105-7107)gcT>gcC p.A2369A ACACB_ENST00000377854.5_Silent_p.A2299A|ACACB_ENST00000377848.3_Silent_p.A2369A|ACACB_ENST00000543201.1_3'UTR O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 2369.0 acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872) 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) 95.0 Adenine(DB00173)|Biotin(DB00121) CGGAGGGGGCTGTCAAGGTGG 0.657 0 56.0 50.0 52.0 12 109703079.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U89344 CCDS31898.1 12q24.1 2010-05-07 2010-04-30 ENSG00000076555 ENSG00000076555 32.0 32.0 6.4.1.2 85.0 protein-coding gene gene with protein product """acetyl-CoA carboxylase 2""" 601557 """acetyl-Coenzyme A carboxylase beta""" 8670171 Standard NM_001093 NM_001093 Approved HACC275, ACC2, ACCB uc001toc.3 O00763 OTTHUMG00000169250 ENST00000338432.7:c.7107T>C 12.__UNKNOWN__:g.109703079T>C A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48 __UNKNOWN__ CCDS31898.1 ACACB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403077.1 + ENST00000338432.7 Silent SNP PCPG-TCGA-QR-A6H4-Normal-SM-5EQGK SPATA21 374955 broad.mit.edu 37 1 16736191 16736191 + Silent SNP G G A TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr1:16736191G>A ENST00000335496.1 - 6.0 974 c.492C>T c.(490-492)tgC>tgT p.C164C SPATA21_ENST00000540400.1_Silent_p.C141C|SPATA21_ENST00000466212.1_5'UTR NM_198546.1 NP_940948.1 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 164.0 Pro-rich. calcium ion binding (GO:0005509) breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19.0 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) GCAGGACAGGGCAAGGCATGG 0.697 0 24.0 25.0 25.0 1 16736191.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS172.1 1p36.13 2013-01-10 ENSG00000187144 ENSG00000187144 374955.0 374955.0 """EF-hand domain containing""" 28026.0 protein-coding gene gene with protein product Standard NM_198546 NM_198546 Approved spergen-2, spergen2 uc001ayn.3 Q7Z572 OTTHUMG00000002312 ENST00000335496.1:c.492C>T 1.__UNKNOWN__:g.16736191G>A B9EK40|F5GXP5 __UNKNOWN__ CCDS172.1 SPATA21-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000006677.2 - ENST00000335496.1 Silent SNP PCPG-TCGA-QR-A6H5-Normal-SM-5EQGS SPANXN2 494119 broad.mit.edu 37 X 142795397 142795397 + Missense_Mutation SNP C C A TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chrX:142795397C>A ENST00000370498.1 - 2.0 1034 c.281G>T c.(280-282)gGa>gTa p.G94V NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 94.0 p.G94V(1)|p.I76I(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27.0 Acute lymphoblastic leukemia(192;6.56e-05) CTGTGAAGATCCTTCAGCTGA 0.502 2 Substitution - Missense(1)|Substitution - coding silent(1) lung(2) 328.0 296.0 307.0 X 142795397.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS35419.1 Xq27.3 2012-06-12 ENSG00000203924 ENSG00000268988 494119.0 494119.0 33175.0 protein-coding gene gene with protein product """cancer/testis antigen family 11, member 7""" 300665.0 14973187, 17012309 Standard NM_001009615 NM_001009615 Approved SPANX-N2, CT11.7 uc004fbz.3 Q5MJ10 OTTHUMG00000022583 ENST00000370498.1:c.281G>T X.__UNKNOWN__:g.142795397C>A ENSP00000359529:p.Gly94Val Q0ZNM2 __UNKNOWN__ CCDS35419.1 . . . . . . . . . . C 0.004 -2.261648 0.00262 . . ENSG00000203924 ENST00000370498 T 0.07021 3.23 0.628 -1.26 0.09376 . . . . . T 0.03783 0.0107 L 0.36672 1.1 0.09310 N 1 P 0.42456 0.78 B 0.33454 0.164 T 0.39563 -0.9608 8 0.11182 T 0.66 . . . . . 94 Q5MJ10 SPXN2_HUMAN V 94 ENSP00000359529:G94V ENSP00000359529:G94V G - 2 0 SPANXN2 142623063 0.993000 0.37304 0.000000 0.03702 0.000000 0.00434 1.462000 0.35266 -2.912000 0.00307 -3.171000 0.00057 GGA SPANXN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058621.2 - ENST00000370498.1 Missense_Mutation SNP PCPG-TCGA-QR-A6H5-Normal-SM-5EQGS ALMS1 7840 broad.mit.edu 37 2 73675507 73675507 + Missense_Mutation SNP C C T TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr2:73675507C>T ENST00000264448.6 + 8.0 1961 c.1850C>T c.(1849-1851)aCc>aTc p.T617I ALMS1_ENST00000377715.1_Missense_Mutation_p.T617I|ALMS1_ENST00000409009.1_Missense_Mutation_p.T575I NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 617.0 34 X 47 AA approximate tandem repeat. endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492) centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829) 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) 147.0 TCAACTCTAACCTCTACTTCC 0.463 0 117.0 119.0 118.0 2 73675507.0 1891.0 4109.0 6000.0 SO:0001583 missense AB002326 CCDS42697.1 2p13.1 2014-09-17 ENSG00000116127 ENSG00000116127 7840.0 7840.0 428.0 protein-coding gene gene with protein product 606844.0 9063741 Standard NM_015120 NM_015120 Approved KIAA0328 uc002sje.1 Q8TCU4 OTTHUMG00000152812 ENST00000264448.6:c.1850C>T 2.__UNKNOWN__:g.73675507C>T ENSP00000264448:p.Thr617Ile Q53S05|Q580Q8|Q86VP9|Q9Y4G4 __UNKNOWN__ CCDS42697.1 . . . . . . . . . . C 5.684 0.310791 0.10733 . . ENSG00000116127 ENST00000409009;ENST00000264448;ENST00000377715 T;T;T 0.16597 3.21;3.21;2.33 3.93 -0.295 0.12828 . 1.990460 0.02273 N 0.068611 T 0.10637 0.0260 N 0.22421 0.69 0.09310 N 1 P;P;P 0.37038 0.579;0.579;0.579 B;B;B 0.34093 0.175;0.175;0.175 T 0.13764 -1.0497 10 0.32370 T 0.25 . 3.0348 0.06118 0.3618:0.4136:0.0:0.2246 . 617;575;617 Q8TCU4-3;B8ZZJ3;Q8TCU4 .;.;ALMS1_HUMAN I 575;617;617 ENSP00000386627:T575I;ENSP00000264448:T617I;ENSP00000366944:T617I ENSP00000264448:T617I T + 2 0 ALMS1 73529015 0.000000 0.05858 0.000000 0.03702 0.015000 0.08874 0.436000 0.21526 -0.070000 0.12908 0.655000 0.94253 ACC ALMS1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000327776.1 + ENST00000264448.6 Missense_Mutation SNP PCPG-TCGA-QR-A6H5-Normal-SM-5EQGS COL11A2 1302 broad.mit.edu 37 6 33147561 33147561 + Missense_Mutation SNP C C G TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr6:33147561C>G ENST00000374708.4 - 11.0 1381 c.1123G>C c.(1123-1125)Ggt>Cgt p.G375R COL11A2_ENST00000374713.1_Missense_Mutation_p.G414R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G380R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G401R|COL11A2_ENST00000341947.2_Missense_Mutation_p.G461R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G435R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G440R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G354R NM_080681.2 NP_542412.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 461.0 Nonhelical region. cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023) collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576) extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674) 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) 68.0 CCCTTGTCACCCCCACCACTG 0.637 Melanoma(1;90 116 3946 5341 17093) 0 46.0 55.0 52.0 6 33147561.0 2203.0 4300.0 6503.0 SO:0001583 missense U32169 CCDS43452.1, CCDS54992.1 6p21.3 2013-01-16 ENSG00000204248 ENSG00000204248 1302.0 1302.0 """Collagens""" 2187.0 protein-coding gene gene with protein product 120290.0 DFNA13, DFNB53 7559422, 10581026 Standard NM_080679 Approved HKE5 uc003ocx.1 P13942 OTTHUMG00000031036 ENST00000374708.4:c.1123G>C 6.__UNKNOWN__:g.33147561C>G ENSP00000363840:p.Gly375Arg A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9 __UNKNOWN__ CCDS43452.1 . . . . . . . . . . c 21.2 4.120245 0.77323 . . ENSG00000204248 ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788 D;D;D;D;D;D;D;D;D 0.91295 -2.41;-2.33;-2.36;-2.37;-2.36;-2.37;-2.46;-2.38;-2.82 4.54 3.67 0.42095 . 0.000000 0.85682 D 0.000000 D 0.92277 0.7550 M 0.75447 2.3 0.50467 D 0.999878 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 0.994;0.994;1.0 D 0.92172 0.5744 10 0.62326 D 0.03 . 8.3072 0.32049 0.0:0.8924:0.0:0.1076 . 354;375;461 P13942-8;P13942-6;P13942 .;.;COBA2_HUMAN R 375;461;440;435;414;401;380;354;461 ENSP00000363840:G375R;ENSP00000339915:G461R;ENSP00000350079:G440R;ENSP00000363846:G435R;ENSP00000363845:G414R;ENSP00000378623:G401R;ENSP00000363844:G380R;ENSP00000355123:G354R;ENSP00000405520:G461R ENSP00000339915:G461R G - 1 0 COL11A2 33255539 1.000000 0.71417 0.991000 0.47740 0.994000 0.84299 5.604000 0.67626 1.137000 0.42214 0.543000 0.68304 GGT COL11A2-001 KNOWN not_organism_supported|basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000076032.2 - ENST00000374708.4 Missense_Mutation SNP PCPG-TCGA-QR-A6H5-Normal-SM-5EQGS SIK1 150094 broad.mit.edu 37 21 44837473 44837473 + Silent SNP G G A TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr21:44837473G>A ENST00000270162.6 - 13.0 2058 c.1926C>T c.(1924-1926)gcC>gcT p.A642A NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 642.0 cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028) cytoplasm (GO:0005737)|nucleus (GO:0005634) 14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674) 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) 21.0 Dabrafenib(DB08912) CCCGGCTGCCGGCTGCGCCGC 0.756 0 7.0 10.0 9.0 21 44837473.0 2089.0 4063.0 6152.0 SO:0001819 synonymous_variant BC038504 CCDS33575.1 21q22.3 2008-12-23 2008-12-23 2008-12-23 ENSG00000142178 ENSG00000142178 150094.0 150094.0 11142.0 protein-coding gene gene with protein product """myocardial SNF1-like kinase""" 605705.0 """SNF1-like kinase""" SNF1LK 7893599 Standard NM_173354 NM_173354 Approved msk uc002zdf.2 P57059 OTTHUMG00000086874 ENST00000270162.6:c.1926C>T 21.__UNKNOWN__:g.44837473G>A A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2 __UNKNOWN__ CCDS33575.1 SIK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000195654.1 - ENST00000270162.6 Silent SNP PCPG-TCGA-QR-A6H5-Normal-SM-5EQGS FEM1B 10116 broad.mit.edu 37 15 68581943 68581943 + Splice_Site SNP A A G rs111343207 TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr15:68581943A>G ENST00000306917.4 + 2.0 863 c.e2-1 NM_015322.4 NP_056137.1 Q9UK73 FEM1B_HUMAN fem-1 homolog b (C. elegans) apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438) cytoplasm (GO:0005737)|nucleus (GO:0005634) death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9.0 TTTCATGTGTAGGTATGTCAT 0.453 0 55.0 50.0 52.0 15 68581943.0 2199.0 4298.0 6497.0 SO:0001630 splice_region_variant CCDS10228.1 15q22 2013-02-19 2001-11-28 ENSG00000169018 ENSG00000169018 10116.0 10116.0 """Ankyrin repeat domain containing""" 3649.0 protein-coding gene gene with protein product 613539.0 """FEM-1 (C. elegans) homolog b""" 10623617 Standard NM_015322 Approved uc002arg.3 Q9UK73 OTTHUMG00000133285 ENST00000306917.4:c.249-1A>G 15.__UNKNOWN__:g.68581943A>G O43146 __UNKNOWN__ CCDS10228.1 . . . . . . . . . . A 15.23 2.772734 0.49680 . . ENSG00000169018 ENST00000306917 . . . 5.67 5.67 0.87782 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 15.0888 0.72177 1.0:0.0:0.0:0.0 . . . . . -1 . . . + . . FEM1B 66368997 1.000000 0.71417 0.956000 0.39512 0.984000 0.73092 8.864000 0.92294 2.149000 0.67028 0.454000 0.30748 . FEM1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257065.1 Intron + ENST00000306917.4 Splice_Site SNP PCPG-TCGA-QR-A6H5-Normal-SM-5EQGS CXADR 1525 broad.mit.edu 37 21 18937753 18937753 + Missense_Mutation SNP G G A TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr21:18937753G>A ENST00000400169.1 + 7.0 841 c.841G>A c.(841-843)Gtg>Atg p.V281M CXADR_ENST00000284878.7_Missense_Mutation_p.V281M|CXADR_ENST00000356275.6_Missense_Mutation_p.C73Y|CXADR_ENST00000306618.10_Missense_Mutation_p.V240M|CXADR_ENST00000400166.1_Missense_Mutation_p.M193I|CXADR_ENST00000400165.1_Missense_Mutation_p.M141I NM_001207066.1 NP_001193995.1 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor 281.0 actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032) acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618) endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2) 11.0 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) CAGGGAAGATGTGCCACCTCC 0.438 0 75.0 79.0 78.0 21 18937753.0 2203.0 4300.0 6503.0 SO:0001583 missense Y07593 CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1 21q21.1 2013-01-29 ENSG00000154639 ENSG00000154639 1525.0 1525.0 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 2559.0 protein-coding gene gene with protein product 602621.0 9036860, 9096397 Standard NM_001338 Approved CAR uc002yki.3 P78310 OTTHUMG00000074508 ENST00000400169.1:c.841G>A 21.__UNKNOWN__:g.18937753G>A ENSP00000383033:p.Val281Met B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4 __UNKNOWN__ CCDS56204.1 .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. G|G|G 19.14|19.14|19.14 3.770503|3.770503|3.770503 0.69992|0.69992|0.69992 .|.|. .|.|. ENSG00000154639|ENSG00000154639|ENSG00000154639 ENST00000356275|ENST00000400166;ENST00000400165|ENST00000284878;ENST00000400169;ENST00000306618 .|D;D|T;T;D .|0.90261|0.87256 .|-2.45;-2.64|-1.07;-1.19;-2.23 5.3|5.3|5.3 5.3|5.3|5.3 0.74995|0.74995|0.74995 .|.|. .|.|0.000000 .|.|0.85682 .|.|D .|.|0.000000 D|D|D 0.93406|0.93406|0.93406 0.7897|0.7897|0.7897 .|.|. .|.|. .|.|. 0.80722|0.80722|0.80722 D|D|D 1|1|1 P|B;B|D;D 0.40875|0.26845|0.89917 0.731|0.161;0.161|1.0;1.0 B|B;B|D;D 0.43478|0.24394|0.91635 0.421|0.053;0.053|0.999;0.991 D|D|D 0.92793|0.92793|0.92793 0.6250|0.6250|0.6250 7|8|9 0.72032|0.35671|0.44086 D|T|T 0.01|0.21|0.13 .|.|. 18.3313|18.3313|18.3313 0.90270|0.90270|0.90270 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|.|. 73|141;193|281;281 P78310-3|P78310-4;P78310-5|B7WPI3;P78310 .|.;.|.;CXAR_HUMAN Y|I|M 73|193;141|281;281;240 .|ENSP00000383030:M193I;ENSP00000383029:M141I|ENSP00000284878:V281M;ENSP00000383033:V281M;ENSP00000303395:V240M ENSP00000348620:C73Y|ENSP00000383029:M141I|ENSP00000284878:V281M C|M|V +|+|+ 2|3|1 0|0|0 CXADR|CXADR|CXADR 17859624|17859624|17859624 1.000000|1.000000|1.000000 0.71417|0.71417|0.71417 0.738000|0.738000|0.738000 0.30950|0.30950|0.30950 0.564000|0.564000|0.564000 0.35744|0.35744|0.35744 9.132000|9.132000|9.132000 0.94455|0.94455|0.94455 2.644000|2.644000|2.644000 0.89710|0.89710|0.89710 0.561000|0.561000|0.561000 0.74099|0.74099|0.74099 TGT|ATG|GTG CXADR-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000158210.1 + ENST00000400169.1 Missense_Mutation SNP PCPG-TCGA-QR-A6H5-Normal-SM-5EQGS VHL 7428 broad.mit.edu 37 3 10191489 10191489 + Missense_Mutation SNP G G A TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr3:10191489G>A ENST00000256474.2 + 3.0 1322 c.482G>A c.(481-483)cGa>cAa p.R161Q VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.R120Q NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 161.0 Interaction with Elongin BC complex. R -> G (in VHLD; type II; dbSNP:rs5030818).|R -> P (in pheochromocytoma and VHLD; type I). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040}.|R -> Q (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:9829912}. cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842) p.R161P(4)|p.R161del(1)|p.R161fs*12(1)|p.E160fs*9(1)|p.C162fs*12(1)|p.?fs(1)|p.C162fs*9(1)|p.L158fs*6(1)|p.R161Q(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769.0 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) CTGAAAGAGCGATGCCTCCAG 0.502 1.0 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia yes Rec yes von Hippel-Lindau syndrome 3 3p25 7428.0 von Hippel-Lindau syndrome gene """E, M, O""" 12 Substitution - Missense(5)|Deletion - Frameshift(4)|Insertion - Frameshift(2)|Deletion - In frame(1) kidney(11)|adrenal_gland(1) GRCh37 CM951290|CM961431 VHL M 94.0 85.0 88.0 3 10191489.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database VHL; ;Erythrocytosis, Familial type 2 L15409 CCDS2597.1, CCDS2598.1 3p25.3 2014-09-17 2012-02-23 ENSG00000134086 ENSG00000134086 7428.0 7428.0 12687.0 protein-coding gene gene with protein product 608537.0 """von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor""" 9671762 Standard NM_000551 NM_000551 Approved VHL1 uc003bvc.3 P40337 OTTHUMG00000128668 ENST00000256474.2:c.482G>A 3.__UNKNOWN__:g.10191489G>A ENSP00000256474:p.Arg161Gln B2RE45|Q13599|Q6PDA9 __UNKNOWN__ CCDS2597.1 . . . . . . . . . . G 28.2 4.898538 0.91962 . . ENSG00000134086 ENST00000256474;ENST00000345392;ENST00000450183 D;D 0.99826 -6.98;-6.98 4.86 4.86 0.63082 von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1); 0.000000 0.85682 D 0.000000 D 0.99684 0.9881 L 0.60455 1.87 0.46823 D 0.999215 D;D 0.89917 1.0;1.0 D;D 0.91635 0.996;0.999 D 0.97408 1.0000 10 0.42905 T 0.14 -3.8766 15.8663 0.79067 0.0:0.0:1.0:0.0 . 120;161 P40337-2;P40337 .;VHL_HUMAN Q 161;120;79 ENSP00000256474:R161Q;ENSP00000344757:R120Q ENSP00000256474:R161Q R + 2 0 VHL 10166489 1.000000 0.71417 0.914000 0.36105 0.805000 0.45488 7.062000 0.76706 2.676000 0.91093 0.655000 0.94253 CGA VHL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250559.1 + ENST00000256474.2 Missense_Mutation SNP PCPG-TCGA-QR-A6H5-Normal-SM-5EQGS SMARCC2 6601 broad.mit.edu 37 12 56578857 56578857 + Missense_Mutation SNP C C T TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr12:56578857C>T ENST00000267064.4 - 4.0 442 c.356G>A c.(355-357)cGc>cAc p.R119H SMARCC2_ENST00000550164.1_Missense_Mutation_p.R119H|SMARCC2_ENST00000550859.1_5'UTR|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.R119H|SMARCC2_ENST00000394023.3_Missense_Mutation_p.R119H NM_003075.3 NP_003066.2 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 119.0 ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351) nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713) 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) 41.0 OV - Ovarian serous cystadenocarcinoma(18;0.123) TTCCACATTGCGGTCCATGCG 0.468 0 137.0 118.0 124.0 12 56578857.0 2203.0 4300.0 6503.0 SO:0001583 missense U66616 CCDS8907.1, CCDS8908.1, CCDS55835.1 12q13.2 2008-05-14 ENSG00000139613 6601.0 6601.0 11105.0 protein-coding gene gene with protein product 601734.0 8804307, 9693044 Standard NM_001130420 Approved BAF170, Rsc8, CRACC2 uc001skb.3 Q8TAQ2 OTTHUMG00000170288 ENST00000267064.4:c.356G>A 12.__UNKNOWN__:g.56578857C>T ENSP00000267064:p.Arg119His F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4 __UNKNOWN__ CCDS8907.1 . . . . . . . . . . C 36 5.687984 0.96784 . . ENSG00000139613 ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064 T;T;T;T 0.24151 1.87;1.87;1.87;1.87 5.32 5.32 0.75619 . 0.000000 0.85682 D 0.000000 T 0.52158 0.1717 M 0.72353 2.195 0.53688 D 0.999978 D;D;D;D;D 0.76494 0.999;0.999;0.999;0.999;0.999 D;D;D;D;D 0.80764 0.987;0.994;0.987;0.987;0.994 T 0.50355 -0.8838 10 0.66056 D 0.02 -10.6913 18.3142 0.90213 0.0:1.0:0.0:0.0 . 8;119;124;119;119 B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2 .;.;.;SMRC2_HUMAN;. H 119 ENSP00000377591:R119H;ENSP00000449396:R119H;ENSP00000302919:R119H;ENSP00000267064:R119H ENSP00000267064:R119H R - 2 0 SMARCC2 54865124 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.317000 0.79018 2.941000 0.99782 0.655000 0.94253 CGC SMARCC2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000408370.1 - ENST00000267064.4 Missense_Mutation SNP PCPG-TCGA-QR-A6H5-Normal-SM-5EQGS RTL1 388015 broad.mit.edu 37 14 101348230 101348230 + Missense_Mutation SNP G G A TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr14:101348230G>A ENST00000534062.1 - 1.0 2954 c.2896C>T c.(2896-2898)Ctc>Ttc p.L966F MIR433_ENST00000384837.1_RNA NM_001134888.2 NP_001128360.1 A6NKG5 RTL1_HUMAN retrotransposon-like 1 966.0 multicellular organismal development (GO:0007275) integral component of membrane (GO:0016021) breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21.0 TGCCCGGGGAGAAGTACGGTG 0.552 0 105.0 106.0 106.0 14 101348230.0 1568.0 3582.0 5150.0 SO:0001583 missense CCDS53910.1 14q32.2 2012-04-18 ENSG00000254656 ENSG00000254656 388015.0 388015.0 14665.0 protein-coding gene gene with protein product 611896.0 16155747, 15854907, 12796779 Standard NM_001134888 NM_001134888 Approved PEG11, MART1, Mar1 uc010txj.1 A6NKG5 OTTHUMG00000167573 ENST00000534062.1:c.2896C>T 14.__UNKNOWN__:g.101348230G>A ENSP00000435342:p.Leu966Phe E9PKS8 __UNKNOWN__ CCDS53910.1 . . . . . . . . . . G 16.41 3.114412 0.56505 . . ENSG00000254656 ENST00000534062 T 0.44482 0.92 3.39 3.39 0.38822 . 0.000000 0.31279 N 0.007921 T 0.34337 0.0894 L 0.27053 0.805 0.27714 N 0.945378 P 0.41978 0.767 B 0.43990 0.438 T 0.24225 -1.0166 10 0.46703 T 0.11 . 13.104 0.59237 0.0:0.0:1.0:0.0 . 966 E9PKS8 . F 966 ENSP00000435342:L966F ENSP00000435342:L966F L - 1 0 RTL1 100417983 1.000000 0.71417 1.000000 0.80357 0.969000 0.65631 1.761000 0.38440 2.210000 0.71456 0.555000 0.69702 CTC RTL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395127.1 - ENST00000534062.1 Missense_Mutation SNP PCPG-TCGA-QR-A6H5-Normal-SM-5EQGS C20orf85 128602 broad.mit.edu 37 20 56730543 56730543 + Missense_Mutation SNP A A G TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr20:56730543A>G ENST00000371168.3 + 3.0 231 c.170A>G c.(169-171)gAt>gGt p.D57G NM_178456.2 NP_848551.1 Q9H1P6 CT085_HUMAN chromosome 20 open reading frame 85 57.0 kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 13.0 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) TGTGAAGAAGATCTCCCCACC 0.493 0 90.0 86.0 88.0 20 56730543.0 2203.0 4300.0 6503.0 SO:0001583 missense AL354776 CCDS13465.1 20q13.32 2012-10-29 ENSG00000124237 ENSG00000124237 128602.0 128602.0 16216.0 protein-coding gene gene with protein product """Low in Lung Cancer 1""" Standard NM_178456 NM_178456 Approved bA196N14.1, LLC1 uc002xyv.3 Q9H1P6 OTTHUMG00000032836 ENST00000371168.3:c.170A>G 20.__UNKNOWN__:g.56730543A>G ENSP00000360210:p.Asp57Gly __UNKNOWN__ CCDS13465.1 . . . . . . . . . . A 11.18 1.562790 0.27915 . . ENSG00000124237 ENST00000371168 T 0.21543 2.0 4.4 0.655 0.17839 . 0.436673 0.20125 N 0.098707 T 0.09598 0.0236 N 0.14661 0.345 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.30966 -0.9960 10 0.23891 T 0.37 -2.5366 5.8338 0.18594 0.5901:0.323:0.0869:0.0 . 57 Q9H1P6 CT085_HUMAN G 57 ENSP00000360210:D57G ENSP00000360210:D57G D + 2 0 C20orf85 56163949 0.017000 0.18338 0.002000 0.10522 0.607000 0.37147 1.829000 0.39121 -0.177000 0.10690 0.460000 0.39030 GAT C20orf85-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079866.2 + ENST00000371168.3 Missense_Mutation SNP PCPG-TCGA-QR-A6H5-Normal-SM-5EQGS TCEA2 6919 broad.mit.edu 37 20 62698311 62698311 + Missense_Mutation SNP G G A TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr20:62698311G>A ENST00000343484.5 + 3.0 348 c.179G>A c.(178-180)aGc>aAc p.S60N TCEA2_ENST00000395053.3_Missense_Mutation_p.S60N|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000361317.2_Missense_Mutation_p.S33N NM_003195.4 NP_003186.1 Q15560 TCEA2_HUMAN transcription elongation factor A (SII), 2 60.0 TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}. DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784) centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12.0 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) CGGAAGCAGAGCTCGGATGAG 0.627 0 85.0 66.0 72.0 20 62698311.0 2203.0 4300.0 6503.0 SO:0001583 missense U86749 CCDS13553.1, CCDS13554.1 20q13.33 2011-01-25 ENSG00000171703 ENSG00000171703 6919.0 6919.0 11614.0 protein-coding gene gene with protein product 604784.0 9441762, 8566795 Standard NM_198723 NM_003195 Approved TFIIS uc021wgq.1 Q15560 OTTHUMG00000033026 ENST00000343484.5:c.179G>A 20.__UNKNOWN__:g.62698311G>A ENSP00000343515:p.Ser60Asn B3KNM1|Q8TD37|Q8TD38 __UNKNOWN__ CCDS13553.1 . . . . . . . . . . G 25.8 4.675481 0.88445 . . ENSG00000171703 ENST00000361317;ENST00000343484;ENST00000395053;ENST00000339217;ENST00000415602;ENST00000440819;ENST00000458442 . . . 4.99 4.99 0.66335 Transcription factor IIS, N-terminal (4);Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type (1); 0.000000 0.85682 D 0.000000 T 0.77322 0.4113 M 0.67569 2.06 0.51482 D 0.999926 D;D;D;D;D 0.89917 0.993;0.993;0.999;1.0;1.0 D;D;D;D;D 0.91635 0.972;0.972;0.995;0.995;0.999 T 0.73808 -0.3866 9 0.26408 T 0.33 -11.6757 18.646 0.91410 0.0:0.0:1.0:0.0 . 60;60;33;33;60 Q15560;Q6IB64;Q5JRI7;B3KNM1;Q86VL0 TCEA2_HUMAN;.;.;.;. N 33;60;60;33;33;33;33 . ENSP00000339432:S33N S + 2 0 TCEA2 62168755 1.000000 0.71417 1.000000 0.80357 0.969000 0.65631 7.672000 0.83956 2.471000 0.83476 0.563000 0.77884 AGC TCEA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080277.2 + ENST00000343484.5 Missense_Mutation SNP PCPG-TCGA-QR-A6H5-Normal-SM-5EQGS Unknown 644094 bcgsc.ca 37 1 119157335 119157335 + RNA SNP G G T TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr1:119157335G>T RNA5SP56 (350223 upstream) : TBX15 (268333 downstream) TCACCCAACTGGTTCAACAGT 0.363 0 SO:0001628 intergenic_variant 1.__UNKNOWN__:g.119157335G>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A6H5-Normal-SM-5EQGS CACNA1E 777 ucsc.edu 37 1 181725221 181725221 + Silent SNP A A G TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr1:181725221A>G ENST00000367570.1 + 29.0 4284 c.4119A>G c.(4117-4119)ggA>ggG p.G1373G CACNA1E_ENST00000367567.4_Silent_p.G980G|CACNA1E_ENST00000358338.5_Silent_p.G1305G|CACNA1E_ENST00000360108.3_Silent_p.G1354G|CACNA1E_ENST00000526775.1_Silent_p.G1354G|CACNA1E_ENST00000357570.5_Silent_p.G1324G|CACNA1E_ENST00000367573.2_Silent_p.G1373G NM_000721.3 NP_000712.2 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1373.0 calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810) plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245) 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) 204.0 CAGGGGAAGGATGGCCTCAGT 0.537 0 56.0 57.0 57.0 1 181725221.0 2081.0 4238.0 6319.0 SO:0001819 synonymous_variant AK096563 CCDS53443.1, CCDS55664.1, CCDS55665.1 1q25.3 2013-01-10 2007-02-16 ENSG00000198216 ENSG00000198216 777.0 777.0 """Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing""" 1392.0 protein-coding gene gene with protein product 601013 CACNL1A6 8388125, 16382099 Standard NM_000721 NM_001205293 Approved Cav2.3, BII, CACH6 uc009wxt.3 Q15878 OTTHUMG00000037301 ENST00000367570.1:c.4119A>G 1.__UNKNOWN__:g.181725221A>G B1AM12|B1AM13|B1AM14|Q14580|Q14581 __UNKNOWN__ CCDS53443.1 CACNA1E-001 KNOWN non_canonical_U12|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000090791.2 + ENST00000367570.1 Silent SNP PCPG-TCGA-QR-A6H5-Normal-SM-5EQGS GOLGA1 2800 broad.mit.edu 37 9 127674230 127674230 + Missense_Mutation SNP G G C TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr9:127674230G>C ENST00000373555.4 - 11.0 1252 c.919C>G c.(919-921)Cta>Gta p.L307V NM_002077.3 NP_002068 Q92805 GOGA1_HUMAN golgin A1 307.0 protein targeting to Golgi (GO:0000042) Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802) NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20.0 TTCTGTTCTAGTCTCTTCTCC 0.453 0 239.0 211.0 220.0 9 127674230.0 2203.0 4300.0 6503.0 SO:0001583 missense U51587 CCDS6860.1 9q34.11 2010-02-12 2010-02-12 ENSG00000136935 ENSG00000136935 2800.0 2800.0 4424.0 protein-coding gene gene with protein product 602502.0 """golgi autoantigen, golgin subfamily a, 1""" 9324025 Standard NM_002077 NM_002077 Approved golgin-97, MGC33154 uc004bpc.3 Q92805 OTTHUMG00000020665 ENST00000373555.4:c.919C>G 9.__UNKNOWN__:g.127674230G>C ENSP00000362656:p.Leu307Val Q5T164|Q8IYZ9 __UNKNOWN__ CCDS6860.1 . . . . . . . . . . G 17.74 3.463920 0.63513 . . ENSG00000136935 ENST00000373555 T 0.78595 -1.19 5.84 2.97 0.34412 . 0.000000 0.34435 U 0.003972 D 0.84151 0.5409 M 0.76002 2.32 0.53688 D 0.999975 D;D 0.71674 0.998;0.997 D;D 0.83275 0.996;0.991 T 0.81829 -0.0753 10 0.49607 T 0.09 -4.5618 5.8189 0.18516 0.2241:0.1441:0.6318:0.0 . 206;307 Q59HA1;Q92805 .;GOGA1_HUMAN V 307 ENSP00000362656:L307V ENSP00000362656:L307V L - 1 2 GOLGA1 126714051 0.998000 0.40836 1.000000 0.80357 0.986000 0.74619 0.736000 0.26130 0.806000 0.34183 0.643000 0.83706 CTA GOLGA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054049.1 - ENST00000373555.4 Missense_Mutation SNP PCPG-TCGA-QR-A6H6-Normal-SM-5EQH5 SCAF8 22828 broad.mit.edu 37 6 155154083 155154083 + Missense_Mutation SNP C C T TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr6:155154083C>T ENST00000367178.3 + 20.0 3946 c.3370C>T c.(3370-3372)Cgg>Tgg p.R1124W SCAF8_ENST00000367186.4_Missense_Mutation_p.R1190W|TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000417268.1_Missense_Mutation_p.R1124W NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 1124.0 Arg-rich. mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681) nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175) breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46.0 AGGTAGATTTCGGTCTGGAAA 0.478 0 75.0 82.0 80.0 6 155154083.0 2203.0 4300.0 6503.0 SO:0001583 missense AB029039 CCDS5247.1, CCDS69226.1, CCDS75541.1 6q25.1-q25.3 2013-02-12 2011-01-10 2011-01-10 ENSG00000213079 ENSG00000213079 22828.0 22828.0 """RNA binding motif (RRM) containing""" 20959.0 protein-coding gene gene with protein product """RNA binding motif protein 16""" RBM16 10470851 Standard NM_014892 NM_001286189 Approved KIAA1116 uc003qpz.3 Q9UPN6 OTTHUMG00000015877 ENST00000367178.3:c.3370C>T 6.__UNKNOWN__:g.155154083C>T ENSP00000356146:p.Arg1124Trp B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43 __UNKNOWN__ CCDS5247.1 . . . . . . . . . . C 16.39 3.109876 0.56398 . . ENSG00000213079;ENSG00000213079;ENSG00000213079;ENSG00000146426 ENST00000367178;ENST00000417268;ENST00000367186;ENST00000528928 T;T;T 0.47869 0.85;0.85;0.83 5.79 4.84 0.62591 . 0.852335 0.09913 U 0.739508 T 0.48390 0.1497 N 0.24115 0.695 0.80722 D 1 D;D;D 0.89917 1.0;1.0;0.999 D;D;P 0.64687 0.928;0.928;0.874 T 0.52193 -0.8608 10 0.66056 D 0.02 . 17.566 0.87920 0.132:0.868:0.0:0.0 . 1169;1190;1124 B7Z876;B7Z888;Q9UPN6 .;.;SCAF8_HUMAN W 1124;1124;1190;85 ENSP00000356146:R1124W;ENSP00000413098:R1124W;ENSP00000356154:R1190W ENSP00000356146:R1124W R + 1 2 TIAM2;SCAF8 155195775 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 4.233000 0.58651 2.726000 0.93360 0.655000 0.94253 CGG SCAF8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042798.1 + ENST00000367178.3 Missense_Mutation SNP PCPG-TCGA-QR-A6H6-Normal-SM-5EQH5 FKBP8 23770 broad.mit.edu 37 19 18648510 18648510 + Silent SNP C C T rs146804732 byFrequency TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr19:18648510C>T ENST00000608443.1 - 6.0 1045 c.846G>A c.(844-846)tcG>tcA p.S282S FKBP8_ENST00000597960.3_Silent_p.S282S|FKBP8_ENST00000596558.2_Silent_p.S281S|FKBP8_ENST00000222308.4_Silent_p.S281S|FKBP8_ENST00000453489.2_Silent_p.S310S|FKBP8_ENST00000610101.1_Silent_p.S122S Q14318 FKBP8_HUMAN FK506 binding protein 8, 38kDa 281.0 apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032) endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740) FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 15.0 GCTTCAGCTGCGAGGCCGCCA 0.617 0 C 4,4402 8.1+/-20.4 0,4,2199 83.0 65.0 71.0 846 -9.3 0.2 19 dbSNP_134 71.0 0,8600 0,0,4300 no coding-synonymous FKBP8 NM_012181.3 0,4,6499 TT,TC,CC 0.0,0.0908,0.0308 282/414 18648510.0 4,13002 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant L37033 CCDS32961.1 19p12 2013-01-10 2002-08-29 ENSG00000105701 ENSG00000105701 23770.0 23770.0 """Tetratricopeptide (TTC) repeat domain containing""" 3724.0 protein-coding gene gene with protein product """FK506-binding protein 8 (38kD)""" 604840.0 """FK506-binding protein 8 (38kD)""" 7543869 Standard NM_012181 NM_012181 Approved FKBP38, FKBPr38 uc002njj.1 Q14318 ENST00000608443.1:c.846G>A 19.__UNKNOWN__:g.18648510C>T C8C9T5|Q53GU3|Q7Z349|Q86YK6 __UNKNOWN__ CCDS32961.1 FKBP8-014 KNOWN alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000471638.1 - ENST00000608443.1 Silent SNP PCPG-TCGA-QR-A6H6-Normal-SM-5EQH5 RASL11B 65997 broad.mit.edu 37 4 53731672 53731672 + Silent SNP C C T TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr4:53731672C>T ENST00000248706.3 + 4.0 665 c.447C>T c.(445-447)gtC>gtT p.V149V RASL11B_ENST00000505041.1_3'UTR NM_023940.2 NP_076429.1 RAS-like, family 11, member B autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1) 9.0 LUSC - Lung squamous cell carcinoma(32;0.0302) CTGTGGTGGTCGTGGCCAACA 0.547 0 108.0 100.0 103.0 4 53731672.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BK001672 CCDS3490.1 4q12 2014-05-09 ENSG00000128045 ENSG00000128045 65997.0 65997.0 23804.0 protein-coding gene gene with protein product 612404.0 Standard NM_023940 NM_023940 Approved uc003gzt.3 Q9BPW5 OTTHUMG00000102097 ENST00000248706.3:c.447C>T 4.__UNKNOWN__:g.53731672C>T __UNKNOWN__ CCDS3490.1 RASL11B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000219931.2 + ENST00000248706.3 Silent SNP PCPG-TCGA-QR-A6H6-Normal-SM-5EQH5 HRNR 388697 broad.mit.edu 37 1 152192788 152192788 + Silent SNP G G A TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr1:152192788G>A ENST00000368801.2 - 3.0 1392 c.1317C>T c.(1315-1317)tcC>tcT p.S439S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 439.0 establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424) cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) calcium ion binding (GO:0005509) 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) 192.0 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGTTGGCCGGAGCTGGGAG 0.617 0 93.0 97.0 96.0 1 152192788.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB104446 CCDS30859.1 1q21.3 2013-01-10 ENSG00000197915 ENSG00000197915 388697.0 388697.0 """EF-hand domain containing""" 20846.0 protein-coding gene gene with protein product """filaggrin family member 3""" Standard XM_373868 NM_001009931 Approved S100a18, S100A16, FLG3 uc001ezt.2 Q86YZ3 OTTHUMG00000012243 ENST00000368801.2:c.1317C>T 1.__UNKNOWN__:g.152192788G>A Q5DT20|Q5U1F4 __UNKNOWN__ CCDS30859.1 HRNR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000034016.1 - ENST00000368801.2 Silent SNP PCPG-TCGA-QR-A6H6-Normal-SM-5EQH5 OR6T1 219874 broad.mit.edu 37 11 123814297 123814297 + Silent SNP G G A TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr11:123814297G>A ENST00000321252.2 - 1.0 283 c.249C>T c.(247-249)gtC>gtT p.V83V NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 83.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.V83V(1) 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) 40.0 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) TGAGGATGACGACAAGCATCT 0.507 1 Substitution - coding silent(1) large_intestine(1) G 2,4402 4.2+/-10.8 0,2,2200 123.0 103.0 110.0 249 -0.4 0.0 11 110.0 1,8597 0,1,4298 no coding-synonymous OR6T1 NM_001005187.1 0,3,6498 AA,AG,GG 0.0116,0.0454,0.0231 83/324 123814297.0 3,12999 2202.0 4299.0 6501.0 SO:0001819 synonymous_variant AB065759 CCDS31700.1 11q24.1 2012-08-09 ENSG00000181499 ENSG00000181499 219874.0 219874.0 """GPCR / Class A : Olfactory receptors""" 14848.0 protein-coding gene gene with protein product Standard NM_001005187 NM_001005187 Approved uc010sab.2 Q8NGN1 OTTHUMG00000165962 ENST00000321252.2:c.249C>T 11.__UNKNOWN__:g.123814297G>A Q6IFE7 __UNKNOWN__ CCDS31700.1 OR6T1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387264.1 - ENST00000321252.2 Silent SNP PCPG-TCGA-QR-A6H6-Normal-SM-5EQH5 DIS3L 115752 broad.mit.edu 37 15 66607419 66607419 + Missense_Mutation SNP G G A TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr15:66607419G>A ENST00000319212.4 + 7.0 910 c.860G>A c.(859-861)cGc>cAc p.R287H RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000441424.2_Missense_Mutation_p.R153H|DIS3L_ENST00000319194.5_Missense_Mutation_p.R204H NM_001143688.1 NP_001137160.1 Q8TF46 DI3L1_HUMAN DIS3 like exosome 3'-5' exoribonuclease 287.0 RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075) cytoplasmic exosome (RNase complex) (GO:0000177) 3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723) 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) 33.0 GCTCGAAACCGCTCAATTCAT 0.478 0 144.0 125.0 131.0 15 66607419.0 2201.0 4299.0 6500.0 SO:0001583 missense CCDS10214.1, CCDS45286.1 15q22.31 2014-03-05 2014-03-05 ENSG00000166938 ENSG00000166938 115752.0 115752.0 28698.0 protein-coding gene gene with protein product 614183.0 """DIS3 mitotic control homolog (S. cerevisiae)-like""" 20531386 Standard NM_133375 NM_001143688 Approved MGC4562, FLJ38088, KIAA1955, DIS3L1 uc010ujm.2 Q8TF46 OTTHUMG00000133181 ENST00000319212.4:c.860G>A 15.__UNKNOWN__:g.66607419G>A ENSP00000321711:p.Arg287His Q8N1N8|Q8WTU9|Q96CM7 __UNKNOWN__ CCDS45286.1 . . . . . . . . . . G 36 5.664037 0.96745 . . ENSG00000166938 ENST00000319194;ENST00000441424;ENST00000319212 T;T;T 0.36699 1.24;1.24;1.24 5.34 5.34 0.76211 . 0.156269 0.56097 D 0.000038 T 0.72566 0.3476 H 0.95260 3.645 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.994 T 0.81061 -0.1103 10 0.66056 D 0.02 -15.751 18.3807 0.90449 0.0:0.0:1.0:0.0 . 287;287 Q8TF46;Q8TF46-3 DI3L1_HUMAN;. H 204;153;287 ENSP00000321583:R204H;ENSP00000388980:R153H;ENSP00000321711:R287H ENSP00000321583:R204H R + 2 0 DIS3L 64394473 1.000000 0.71417 0.993000 0.49108 0.963000 0.63663 9.386000 0.97228 2.655000 0.90218 0.561000 0.74099 CGC DIS3L-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000382792.2 + ENST00000319212.4 Missense_Mutation SNP PCPG-TCGA-QR-A6H6-Normal-SM-5EQH5 STK11IP 114790 broad.mit.edu 37 2 220466101 220466101 + Missense_Mutation SNP C C T TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr2:220466101C>T ENST00000456909.1 + 3.0 296 c.206C>T c.(205-207)tCc>tTc p.S69F STK11IP_ENST00000459692.1_3'UTR|STK11IP_ENST00000295641.10_Missense_Mutation_p.S80F Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 80.0 protein localization (GO:0008104) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765) protein kinase binding (GO:0019901) breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23.0 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTGCCGACTCCCCTGTTATT 0.567 0 62.0 65.0 64.0 2 220466101.0 2088.0 4228.0 6316.0 SO:0001583 missense AF450267 CCDS46521.1 2q35 2008-06-03 ENSG00000144589 ENSG00000144589 114790.0 114790.0 19184.0 protein-coding gene gene with protein product """LKB1 interacting protein""" 607172.0 11741830 Standard NM_052902 NM_052902 Approved LIP1, KIAA1898, LKB1IP, STK11IP1 uc002vml.3 Q8N1F8 OTTHUMG00000059239 ENST00000456909.1:c.206C>T 2.__UNKNOWN__:g.220466101C>T ENSP00000389383:p.Ser69Phe Q8NAW9|Q8WXE4|Q96CN3|Q96PY9 __UNKNOWN__ . . . . . . . . . . C 15.28 2.787082 0.49997 . . ENSG00000144589 ENST00000456909;ENST00000426736;ENST00000295641 T;T 0.06687 3.28;3.27 4.83 4.83 0.62350 . 0.142496 0.44688 D 0.000427 T 0.23410 0.0566 L 0.55743 1.74 0.51767 D 0.999936 D;D;D;D;D 0.76494 0.999;0.998;0.999;0.999;0.999 D;D;D;D;D 0.76071 0.98;0.923;0.974;0.987;0.981 T 0.00169 -1.1962 10 0.87932 D 0 -19.9789 13.4775 0.61316 0.0:0.843:0.157:0.0 . 80;80;69;80;80 B4DUE4;B4DII2;E7ERV2;Q8N1F8-2;Q8N1F8 .;.;.;.;S11IP_HUMAN F 69;80;80 ENSP00000389383:S69F;ENSP00000295641:S80F ENSP00000295641:S80F S + 2 0 STK11IP 220174345 1.000000 0.71417 0.937000 0.37676 0.120000 0.20174 5.275000 0.65575 2.511000 0.84671 0.650000 0.86243 TCC STK11IP-001 NOVEL basic|appris_principal protein_coding protein_coding OTTHUMT00000131432.1 + ENST00000456909.1 Missense_Mutation SNP PCPG-TCGA-QR-A6H6-Normal-SM-5EQH5 MROH2B 133558 broad.mit.edu 37 5 41038870 41038870 + Missense_Mutation SNP G G T TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr5:41038870G>T ENST00000399564.4 - 21.0 2632 c.2182C>A c.(2182-2184)Caa>Aaa p.Q728K MROH2B_ENST00000506092.2_Missense_Mutation_p.Q283K NM_173489.4 NP_775760.3 Q7Z745 MRO2B_HUMAN maestro heat-like repeat family member 2B 728.0 GACAGGACTTGGGATATGATA 0.517 0 66.0 67.0 67.0 5 41038870.0 1948.0 4146.0 6094.0 SO:0001583 missense CCDS47202.1 5p13.1 2012-12-19 2012-12-19 2012-12-19 ENSG00000171495 ENSG00000171495 133558.0 133558.0 """maestro heat-like repeat containing""" 26857.0 protein-coding gene gene with protein product """HEAT repeat family member 7B2""" HEATR7B2 12477932 Standard NM_173489 NM_173489 Approved DKFZp781F0822, FLJ40243 uc003jmj.4 Q7Z745 OTTHUMG00000162151 ENST00000399564.4:c.2182C>A 5.__UNKNOWN__:g.41038870G>T ENSP00000382476:p.Gln728Lys Q68DM1|Q7Z4U4|Q8N7X3 __UNKNOWN__ CCDS47202.1 . . . . . . . . . . G 8.168 0.791127 0.16258 . . ENSG00000171495 ENST00000506092;ENST00000296803;ENST00000399564 T;T 0.05996 3.36;3.36 5.73 5.73 0.89815 Armadillo-type fold (1); 0.270105 0.26796 N 0.022444 T 0.04137 0.0115 N 0.15975 0.35 0.31701 N 0.640711 P 0.36837 0.571 B 0.35770 0.21 T 0.10314 -1.0635 10 0.05721 T 0.95 . 15.7506 0.77983 0.0:0.0:1.0:0.0 . 728 Q7Z745 HTRB2_HUMAN K 283;433;728 ENSP00000441504:Q283K;ENSP00000382476:Q728K ENSP00000296803:Q433K Q - 1 0 HEATR7B2 41074627 0.998000 0.40836 0.975000 0.42487 0.116000 0.19942 3.036000 0.49767 2.861000 0.98227 0.655000 0.94253 CAA MROH2B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367558.2 - ENST00000399564.4 Missense_Mutation SNP PCPG-TCGA-QR-A6H6-Normal-SM-5EQH5 COL21A1 0 broad.mit.edu 37 6 56044743 56044743 + Silent SNP G G A TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr6:56044743G>A ENST00000244728.5 - 3.0 670 c.273C>T c.(271-273)ctC>ctT p.L91L COL21A1_ENST00000370819.1_Silent_p.L91L|COL21A1_ENST00000535941.1_Silent_p.L91L NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 91.0 VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}. extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41.0 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CATAGCTTCCGAGAGGAATCT 0.453 G 1.0 0.0005 2184.0 0.9998 , , 0.0002 0.0013 0.0005 0.8457 LOWCOV 0.0006 SNP 0 63.0 61.0 61.0 6 56044743.0 1894.0 4118.0 6012.0 SO:0001819 synonymous_variant AF330693 CCDS55025.1 6p12.3-p11.2 2013-01-16 ENSG00000124749 ENSG00000124749 81578.0 """Collagens""" 17025.0 protein-coding gene gene with protein product 610002.0 11566190 Standard XR_241922 Approved uc003pcs.3 Q96P44 OTTHUMG00000014907 ENST00000244728.5:c.273C>T 6.__UNKNOWN__:g.56044743G>A A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3 __UNKNOWN__ CCDS55025.1 COL21A1-001 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000041004.2 - ENST00000244728.5 Silent SNP PCPG-TCGA-QR-A6H6-Normal-SM-5EQH5 WBSCR17 64409 broad.mit.edu 37 7 71142222 71142222 + Silent SNP C C A TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr7:71142222C>A ENST00000333538.5 + 9.0 2065 c.1431C>A c.(1429-1431)gtC>gtA p.V477V WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 477.0 Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}. protein glycosylation (GO:0006486) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) 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) 100.0 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CAAAAGACGTCTGCTTGGACC 0.542 0 234.0 232.0 232.0 7 71142222.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF410457 CCDS5540.1 7q11.23 2014-03-13 ENSG00000185274 ENSG00000185274 64409.0 64409.0 """Glycosyltransferase family 2 domain containing""" 16347.0 protein-coding gene gene with protein product """polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3""" 615137.0 12073013, 15744064, 22787146 Standard NM_022479 NM_022479 Approved GALNTL3, GalNAc-T5L uc003tvy.4 Q6IS24 OTTHUMG00000129783 ENST00000333538.5:c.1431C>A 7.__UNKNOWN__:g.71142222C>A Q8NFV9|Q9NTA8 __UNKNOWN__ CCDS5540.1 WBSCR17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252006.1 + ENST00000333538.5 Silent SNP PCPG-TCGA-QR-A6H6-Normal-SM-5EQH5 ZSCAN31 64288 broad.mit.edu 37 6 28294493 28294493 + Missense_Mutation SNP C C T TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr6:28294493C>T ENST00000481934.1 - 0.0 1 ZSCAN31_ENST00000344279.6_Missense_Mutation_p.S224N|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.S224N|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.S65N|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.S224N|ZSCAN31_ENST00000414429.1_Missense_Mutation_p.S224N Q96LW9 ZSC31_HUMAN zinc finger and SCAN domain containing 31 transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) TTCTGCCTTGCTGTCTCGTTT 0.423 0 135.0 128.0 131.0 6 28294493.0 2203.0 4300.0 6503.0 SO:0001623 5_prime_UTR_variant CCDS4649.1, CCDS59001.1 6p 2013-01-09 2013-01-08 2013-01-08 ENSG00000235109 ENSG00000235109 64288.0 64288.0 """-"", ""Zinc fingers, C2H2-type""" 14097.0 protein-coding gene gene with protein product 610794.0 """zinc finger protein 310 pseudogene"", ""zinc finger protein 323""" ZNF310P, ZNF323 Standard NM_030899 NM_001135216 Approved uc003nla.3 Q96LW9 OTTHUMG00000014518 ENST00000481934.1:c.-795G>A 6.__UNKNOWN__:g.28294493C>T Q6P178|Q8WWS5 __UNKNOWN__ . . . . . . . . . . C 5.059 0.196595 0.09599 . . ENSG00000235109 ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279;ENST00000435857;ENST00000414431 T;T;T;T;T;T;T 0.05925 3.37;3.37;3.37;3.37;3.37;3.43;5.83 4.13 0.973 0.19710 . . . . . T 0.01661 0.0053 L 0.39397 1.21 0.09310 N 1 B 0.06786 0.001 B 0.04013 0.001 T 0.45440 -0.9261 9 0.32370 T 0.25 . 6.5351 0.22348 0.3082:0.5959:0.0:0.0959 . 224 Q96LW9 ZN323_HUMAN N 224;224;224;65;224;65;65 ENSP00000380050:S224N;ENSP00000413705:S224N;ENSP00000390076:S224N;ENSP00000402937:S65N;ENSP00000345339:S224N;ENSP00000391235:S65N;ENSP00000407529:S65N ENSP00000345339:S224N S - 2 0 ZNF323 28402472 0.000000 0.05858 0.002000 0.10522 0.006000 0.05464 -0.315000 0.08081 0.292000 0.22492 -0.518000 0.04402 AGC ZSCAN31-018 PUTATIVE basic|exp_conf processed_transcript protein_coding OTTHUMT00000346819.1 - ENST00000481934.1 5'UTR SNP PCPG-TCGA-QR-A6H6-Normal-SM-5EQH5 SHC1 6464 broad.mit.edu 37 1 154940727 154940727 + Missense_Mutation SNP C C T TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr1:154940727C>T ENST00000448116.2 - 5.0 977 c.757G>A c.(757-759)Gcc>Acc p.A253T SHC1_ENST00000368449.4_Missense_Mutation_p.A24T|SHC1_ENST00000368453.4_Missense_Mutation_p.A143T|SHC1_ENST00000368450.1_Missense_Mutation_p.A143T|SHC1_ENST00000606391.1_Missense_Mutation_p.A54T|SHC1_ENST00000368445.5_Missense_Mutation_p.A253T NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 253.0 PID. {ECO:0000255|PROSITE- ProRule:PRU00148}. actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337) cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435) ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068) breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20.0 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGGTGGTTGGCGATGATCTGA 0.567 NSCLC(4;32 234 1864 2492 3259 13747 17376) 0 242.0 237.0 239.0 1 154940727.0 2203.0 4300.0 6503.0 SO:0001583 missense U73377 CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1 1q21 2013-02-14 2002-01-14 ENSG00000160691 ENSG00000160691 6464.0 6464.0 """SH2 domain containing""" 10840.0 protein-coding gene gene with protein product 600560.0 """SHC (Src homology 2 domain-containing) transforming protein 1""" SHC 1623525 Standard NM_183001 NM_003029 Approved p66 uc001ffw.3 P29353 OTTHUMG00000037295 ENST00000448116.2:c.757G>A 1.__UNKNOWN__:g.154940727C>T ENSP00000401303:p.Ala253Thr B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1 __UNKNOWN__ CCDS44233.1 . . . . . . . . . . C 35 5.539305 0.96474 . . ENSG00000160691 ENST00000368445;ENST00000448116;ENST00000368449;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000444179 T;T;T;T;T;T 0.21191 2.02;2.02;2.02;2.02;2.02;2.02 4.97 4.97 0.65823 Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1); 0.122077 0.53938 D 0.000053 T 0.45796 0.1360 M 0.90650 3.135 0.80722 D 1 D;P;P 0.76494 0.999;0.875;0.897 P;P;P 0.62435 0.902;0.692;0.502 T 0.56559 -0.7959 10 0.59425 D 0.04 -21.1739 18.4191 0.90582 0.0:1.0:0.0:0.0 . 32;253;253 Q59HB0;P29353-6;P29353 .;.;SHC1_HUMAN T 253;253;54;143;143;189;24 ENSP00000357430:A253T;ENSP00000401303:A253T;ENSP00000357434:A54T;ENSP00000357438:A143T;ENSP00000357435:A143T;ENSP00000398864:A24T ENSP00000357428:A189T A - 1 0 SHC1 153207351 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 7.307000 0.78920 2.574000 0.86865 0.563000 0.77884 GCC SHC1-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000090779.2 - ENST00000448116.2 Missense_Mutation SNP PCPG-TCGA-QR-A6H6-Normal-SM-5EQH5 TEAD4 7004 broad.mit.edu 37 12 3131089 3131089 + Missense_Mutation SNP G G A TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr12:3131089G>A ENST00000397122.2 + 8.0 701 c.416G>A c.(415-417)cGc>cAc p.R139H TEAD4_ENST00000358409.2_Missense_Mutation_p.R225H|TEAD4_ENST00000359864.2_Missense_Mutation_p.R268H NM_201443.2 NP_958851.1 Q15561 TEAD4_HUMAN TEA domain family member 4 268.0 gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367) nucleoplasm (GO:0005654) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10.0 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) GTGGACATCCGCCAAATCTAT 0.527 0 142.0 144.0 143.0 12 3131089.0 2203.0 4300.0 6503.0 SO:0001583 missense X94438 CCDS31729.1, CCDS31730.1, CCDS41737.1 12p13.3-p13.2 2008-05-14 ENSG00000197905 7004.0 7004.0 11717.0 protein-coding gene gene with protein product 601714.0 TCF13L1 9889009, 8921372 Standard NM_003213 NM_003213 Approved TEF-3, TEFR-1, EFTR-2, RTEF-1 uc010sej.2 Q15561 ENST00000397122.2:c.416G>A 12.__UNKNOWN__:g.3131089G>A ENSP00000380311:p.Arg139His H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2 __UNKNOWN__ CCDS41737.1 . . . . . . . . . . G 12.60 1.986426 0.35036 . . ENSG00000197905 ENST00000358409;ENST00000359864;ENST00000397122 T;T;T 0.35236 1.32;1.32;1.32 4.19 1.08 0.20341 . 0.423325 0.25068 N 0.033385 T 0.38878 0.1057 M 0.82517 2.595 0.58432 D 0.999995 B 0.11235 0.004 B 0.04013 0.001 T 0.39901 -0.9591 10 0.66056 D 0.02 -10.1873 9.3324 0.38030 0.2884:0.0:0.7116:0.0 . 268 Q15561 TEAD4_HUMAN H 225;268;139 ENSP00000351184:R225H;ENSP00000352926:R268H;ENSP00000380311:R139H ENSP00000351184:R225H R + 2 0 TEAD4 3001350 1.000000 0.71417 1.000000 0.80357 0.305000 0.27757 3.876000 0.56115 0.426000 0.26116 -0.136000 0.14681 CGC TEAD4-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398477.1 + ENST00000397122.2 Missense_Mutation SNP PCPG-TCGA-QR-A6H6-Normal-SM-5EQH5 CTC-260E6.6 0 broad.mit.edu 37 19 20369997 20369997 + RNA SNP C C T TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr19:20369997C>T ENST00000593655.1 - 0.0 199 ACGGTTGAAACGAGAACTTAA 0.413 0 ENST00000593655.1: 19.__UNKNOWN__:g.20369997C>T __UNKNOWN__ CTC-260E6.6-006 KNOWN basic antisense antisense OTTHUMT00000462901.1 - ENST00000593655.1 RNA SNP PCPG-TCGA-QR-A6H6-Normal-SM-5EQH5 IGHG3 0 broad.mit.edu 37 14 106237582 106237582 + RNA SNP C C T rs2983776 TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr14:106237582C>T ENST00000390551.2 - 0.0 160 P01860 IGHG3_HUMAN immunoglobulin heavy constant gamma 3 (G3m marker) complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) antigen binding (GO:0003823) GTAGGACAGCCGGGAAGGTGT 0.637 0 44.0 41.0 42.0 14 106237582.0 1903.0 4068.0 5971.0 M12958 14q32.33 2012-10-02 ENSG00000211897 ENSG00000211897 3502.0 3502.0 """Immunoglobulins / IGH locus""" 5527.0 other immunoglobulin gene 147120.0 6808505 Standard NG_001019 NG_001019 Approved P01860 OTTHUMG00000152539 ENST00000390551.2: 14.__UNKNOWN__:g.106237582C>T A2NU35 __UNKNOWN__ IGHG3-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal IG_C_gene IG_C_gene OTTHUMT00000326654.1 - ENST00000390551.2 RNA SNP PCPG-TCGA-QR-A6H6-Normal-SM-5EQH5 CDKN2A 1029 broad.mit.edu 37 9 21970988 21970988 + Missense_Mutation SNP G G A rs34170727 TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr9:21970988G>A ENST00000479692.2 - 2.0 231 c.217C>T c.(217-219)Cgc>Tgc p.R73C CDKN2A_ENST00000497750.1_Missense_Mutation_p.R73C|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R73C|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R73C|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000304494.5_Missense_Mutation_p.R124C|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R124C|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R124C|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R73C|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R124C P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 124.0 cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985) cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901) p.0?(1315)|p.?(13)|p.R124fs*22(2)|p.0(1)|p.A118fs*10(1)|p.L121fs*21(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) 4199.0 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) GCGACATCGCGATGGCCCAGC 0.711 17.0 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 1333 Whole gene deletion(1316)|Unknown(13)|Deletion - Frameshift(4) haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(164)|lung(143)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(49)|upper_aerodigestive_tract(48)|ovary(34)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2) GRCh37 CM056562 CDKN2A M rs34170727 27.0 29.0 29.0 9 21970988.0 2202.0 4298.0 6500.0 SO:0001583 missense L27211 CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1 9p21 2014-09-17 2012-03-08 ENSG00000147889 ENSG00000147889 1029.0 1029.0 1787.0 protein-coding gene gene with protein product 600160.0 """cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)""" CDKN2, MLM 8152487, 7606716 Standard NM_000077 NM_058195 Approved CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf uc003zpk.3 P42771 OTTHUMG00000019686 ENST00000479692.2:c.217C>T 9.__UNKNOWN__:g.21970988G>A ENSP00000466887:p.Arg73Cys A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05 __UNKNOWN__ . . . . . . . . . . G 4.724 0.134560 0.09032 . . ENSG00000147889 ENST00000304494;ENST00000446177 D;D 0.93859 -3.3;-3.3 5.93 1.0 0.19881 Ankyrin repeat-containing domain (4); . . . . D 0.87493 0.6191 L 0.50847 1.595 0.39731 D 0.971609 B 0.16396 0.017 B 0.08055 0.003 T 0.77122 -0.2704 9 0.44086 T 0.13 -3.998 1.7222 0.02914 0.292:0.1279:0.4484:0.1317 rs34170727 124 P42771 CD2A1_HUMAN C 124 ENSP00000307101:R124C;ENSP00000394932:R124C ENSP00000307101:R124C R - 1 0 CDKN2A 21960988 0.005000 0.15991 0.030000 0.17652 0.027000 0.11550 -0.044000 0.12023 -0.074000 0.12820 -0.812000 0.03155 CGC CDKN2A-008 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000051922.3 - ENST00000479692.2 Missense_Mutation SNP PCPG-TCGA-QR-A6H6-Normal-SM-5EQH5 NUMA1 0 broad.mit.edu 37 11 71715362 71715362 + Frame_Shift_Del DEL G G - TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr11:71715362delG ENST00000393695.3 - 25.0 6363 c.6032delC c.(6031-6033)ccafs p.P2011fs NUMA1_ENST00000358965.6_Frame_Shift_Del_p.P1997fs|NUMA1_ENST00000351960.6_Frame_Shift_Del_p.P875fs NM_006185.2 NP_006176.2 nuclear mitotic apparatus protein 1 central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65.0 CATGGGGCGTGGGAAACAGCT 0.542 T RARA APL Dom yes 11 11q13 4926.0 nuclear mitotic apparatus protein 1 L 0 146.0 136.0 140.0 11 71715362.0 2200.0 4293.0 6493.0 SO:0001589 frameshift_variant Z11584 CCDS31633.1, CCDS66156.1 11q13 2008-02-05 ENSG00000137497 4926.0 8059.0 protein-coding gene gene with protein product 164009.0 8406455 Standard NM_006185 Approved uc001orl.1 Q14980 ENST00000393695.3:c.6032delC 11.__UNKNOWN__:g.71715362delG ENSP00000377298:p.Pro2011fs __UNKNOWN__ CCDS31633.1 NUMA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395769.1 - ENST00000393695.3 Frame_Shift_Del DEL PCPG-TCGA-QR-A6H6-Normal-SM-5EQH5 SPATA6L 55064 broad.mit.edu 37 9 4605438 4605438 + Missense_Mutation SNP A A C TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr9:4605438A>C ENST00000475086.1 - 9.0 1061 c.824T>G c.(823-825)tTc>tGc p.F275C SPATA6L_ENST00000381890.5_Missense_Mutation_p.S273A|SPATA6L_ENST00000454239.2_Missense_Mutation_p.F333C|SPATA6L_ENST00000381895.5_Missense_Mutation_p.F210C NM_001039395.3 NP_001034484.3 Q8N4H0 SPA6L_HUMAN spermatogenesis associated 6-like 333.0 ACCAGGATGGAACCTGCTCAA 0.413 0 100.0 93.0 95.0 9 4605438.0 1901.0 4147.0 6048.0 SO:0001583 missense AK000920 CCDS43785.1, CCDS43785.2 9p24.2 2012-03-15 2012-03-15 2012-03-15 ENSG00000106686 ENSG00000106686 55064.0 55064.0 25472.0 protein-coding gene gene with protein product """chromosome 9 open reading frame 68""" C9orf68 Standard NM_017985 NM_001039395 Approved FLJ10058 uc011llz.2 Q8N4H0 OTTHUMG00000019469 ENST00000475086.1:c.824T>G 9.__UNKNOWN__:g.4605438A>C ENSP00000417063:p.Phe275Cys B4DIY4|Q5JVJ5|Q8IY90 __UNKNOWN__ CCDS43785.2 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 10.93|10.93 1.491055|1.491055 0.26774|0.26774 .|. .|. ENSG00000106686|ENSG00000106686 ENST00000454239;ENST00000475086;ENST00000381895|ENST00000381890 T;T;T|T 0.29142|0.48522 1.63;1.58;1.58|0.81 4.81|4.81 -0.184|-0.184 0.13280|0.13280 .|. 2.941040|. 0.01032|. N|. 0.004158|. T|T 0.35537|0.35537 0.0935|0.0935 M|M 0.63843|0.63843 1.955|1.955 0.20074|0.20074 N|N 0.999936|0.999936 B;B;B|. 0.20261|. 0.02;0.043;0.023|. B;B;B|. 0.21546|. 0.025;0.035;0.015|. T|T 0.36286|0.36286 -0.9754|-0.9754 10|7 0.87932|0.02654 D|T 0|1 -10.3562|-10.3562 3.9481|3.9481 0.09356|0.09356 0.5259:0.1834:0.2907:0.0|0.5259:0.1834:0.2907:0.0 .|. 275;210;333|. B4DIY4;E7ENB5;Q8N4H0|. .;.;CI068_HUMAN|. C|A 333;275;210|273 ENSP00000404277:F333C;ENSP00000417063:F275C;ENSP00000371319:F210C|ENSP00000371314:S273A ENSP00000371319:F210C|ENSP00000371314:S273A F|S -|- 2|1 0|0 C9orf68|C9orf68 4595438|4595438 0.840000|0.840000 0.29493|0.29493 0.161000|0.161000 0.22692|0.22692 0.246000|0.246000 0.25737|0.25737 1.025000|1.025000 0.30090|0.30090 0.082000|0.082000 0.17018|0.17018 -0.290000|-0.290000 0.09829|0.09829 TTC|TCC SPATA6L-009 PUTATIVE basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000354814.1 - ENST00000475086.1 Missense_Mutation SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE ACACA 31 broad.mit.edu 37 17 35627724 35627724 + Missense_Mutation SNP A A G TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr17:35627724A>G ENST00000394406.2 - 10.0 1116 c.926T>C c.(925-927)aTg>aCg p.M309T ACACA_ENST00000335166.5_Missense_Mutation_p.M231T|ACACA_ENST00000360679.3_Missense_Mutation_p.M251T|ACACA_ENST00000353139.5_Missense_Mutation_p.M346T NM_198836.1 NP_942133.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 309.0 ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation. acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872) 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) 83.0 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GGCCTTGATCATTACTGGATA 0.398 Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249) 0 219.0 211.0 213.0 17 35627724.0 2203.0 4300.0 6503.0 SO:0001583 missense U19822 CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1 17q21 2014-05-06 2010-04-30 ENSG00000132142 ENSG00000278540 31.0 31.0 6.4.1.2 84.0 protein-coding gene gene with protein product """acetyl-CoA carboxylase 1""" 200350.0 """acetyl-Coenzyme A carboxylase alpha""" ACAC, ACC Standard NM_198836 NM_198837 Approved ACC1 uc002hno.3 Q13085 OTTHUMG00000188463 ENST00000394406.2:c.926T>C 17.__UNKNOWN__:g.35627724A>G ENSP00000377928:p.Met309Thr B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3 __UNKNOWN__ CCDS11317.1 . . . . . . . . . . A 23.8 4.457031 0.84317 . . ENSG00000132142 ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066 D;D;D;D 0.97186 -4.28;-4.28;-4.28;-4.28 5.56 5.56 0.83823 ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);Biotin carboxylation domain (1); 0.000000 0.85682 D 0.000000 D 0.99140 0.9703 H 0.98351 4.21 0.80722 D 1 P;D;D 0.89917 0.917;1.0;1.0 P;D;D 0.87578 0.64;0.998;0.984 D 0.98977 1.0803 10 0.87932 D 0 -20.9179 15.7051 0.77573 1.0:0.0:0.0:0.0 . 346;309;251 Q13085-4;Q13085;Q13085-2 .;ACACA_HUMAN;. T 346;251;309;333;231;231 ENSP00000344789:M346T;ENSP00000353898:M251T;ENSP00000377928:M309T;ENSP00000335323:M231T ENSP00000335323:M231T M - 2 0 ACACA 32701837 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 9.339000 0.96797 2.115000 0.64714 0.477000 0.44152 ATG ACACA-009 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256696.1 - ENST00000394406.2 Missense_Mutation SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE RGS8 85397 broad.mit.edu 37 1 182635109 182635109 + Missense_Mutation SNP T T C TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr1:182635109T>C ENST00000483095.2 - 5.0 445 c.188A>G c.(187-189)cAt>cGt p.H63R RGS8_ENST00000258302.4_Missense_Mutation_p.H81R|RGS8_ENST00000367557.4_Missense_Mutation_p.H63R|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367556.1_Missense_Mutation_p.H63R P57771 RGS8_HUMAN regulator of G-protein signaling 8 63.0 RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}. positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) GTPase activator activity (GO:0005096) haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 5.0 CTTACACTTATGAGAGAGAAG 0.393 Ovarian(189;1262 3804 41973) 0 175.0 175.0 175.0 1 182635109.0 2203.0 4300.0 6503.0 SO:0001583 missense AF297015 CCDS1349.1, CCDS41443.1 1q25 2008-07-18 2007-08-14 ENSG00000135824 ENSG00000135824 85397.0 85397.0 """Regulators of G-protein signaling""" 16810.0 protein-coding gene gene with protein product 607189.0 """regulator of G-protein signalling 8""" 11318611 Standard NM_033345 NM_001102450 Approved MGC119067, MGC119068, MGC119069 uc001gpm.1 P57771 OTTHUMG00000035219 ENST00000483095.2:c.188A>G 1.__UNKNOWN__:g.182635109T>C ENSP00000426289:p.His63Arg B4DGL9|Q3SYD2 __UNKNOWN__ CCDS41443.1 . . . . . . . . . . T 16.63 3.175834 0.57692 . . ENSG00000135824 ENST00000483095;ENST00000258302;ENST00000367557;ENST00000367556 T;T;T;T 0.29397 1.57;1.57;1.57;1.57 5.47 5.47 0.80525 Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1); 0.051141 0.85682 D 0.000000 T 0.33440 0.0863 L 0.58101 1.795 0.41652 D 0.989137 P;P 0.48694 0.914;0.904 B;B 0.42495 0.309;0.389 T 0.21861 -1.0233 10 0.59425 D 0.04 . 13.0605 0.59003 0.0:0.0:0.0:1.0 . 63;81 P57771;P57771-2 RGS8_HUMAN;. R 63;81;63;63 ENSP00000426289:H63R;ENSP00000258302:H81R;ENSP00000356528:H63R;ENSP00000356527:H63R ENSP00000258302:H81R H - 2 0 RGS8 180901732 1.000000 0.71417 1.000000 0.80357 0.949000 0.60115 4.848000 0.62874 2.070000 0.61991 0.533000 0.62120 CAT RGS8-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000358979.1 - ENST00000483095.2 Missense_Mutation SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE PRMT10 90826 broad.mit.edu 37 4 148575325 148575325 + Missense_Mutation SNP C C T TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr4:148575325C>T ENST00000322396.6 - 9.0 1965 c.1723G>A c.(1723-1725)Gta>Ata p.V575I TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.V462I NM_138364.2 NP_612373.2 Q6P2P2 ANM9_HUMAN 575.0 SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}. cytoplasm (GO:0005737) protein methyltransferase activity (GO:0008276) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28.0 ATGTTCTGTACAGTATTACTC 0.448 0 143.0 131.0 135.0 4 148575325.0 2203.0 4300.0 6503.0 SO:0001583 missense ENST00000322396.6:c.1723G>A 4.__UNKNOWN__:g.148575325C>T ENSP00000314396:p.Val575Ile A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98 __UNKNOWN__ CCDS3771.1 . . . . . . . . . . C 1.138 -0.650303 0.03506 . . ENSG00000164169 ENST00000322396;ENST00000541232 T;T 0.30714 1.52;1.52 5.86 1.13 0.20643 . 1.522720 0.03102 N 0.161288 T 0.12220 0.0297 N 0.02011 -0.69 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.18777 -1.0326 10 0.23302 T 0.38 -38.9013 4.1968 0.10447 0.1032:0.4138:0.3334:0.1496 . 575 Q6P2P2 ANM10_HUMAN I 575;462 ENSP00000314396:V575I;ENSP00000439508:V462I ENSP00000314396:V575I V - 1 0 PRMT10 148794775 0.000000 0.05858 0.001000 0.08648 0.130000 0.20726 -1.689000 0.01923 0.764000 0.33197 0.655000 0.94253 GTA PRMT10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000364650.1 - ENST00000322396.6 Missense_Mutation SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE CLCNKB 1188 broad.mit.edu 37 1 16378263 16378263 + Silent SNP C C T TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr1:16378263C>T ENST00000375679.4 + 14.0 1467 c.1356C>T c.(1354-1356)atC>atT p.I452I CLCNKB_ENST00000375667.3_Silent_p.I283I NM_000085.4 NP_000076.2 P51801 CLCKB_HUMAN chloride channel, voltage-sensitive Kb 452.0 excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810) chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21.0 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) CTGAGGGCATCGTGGCTGGAG 0.637 0 89.0 89.0 89.0 1 16378263.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK098217 CCDS168.1, CCDS57974.1 1p36 2012-09-26 2012-02-23 ENSG00000184908 ENSG00000184908 1188.0 1188.0 """Ion channels / Chloride channels : Voltage-sensitive""" 2027.0 protein-coding gene gene with protein product 602023.0 """chloride channel Kb""" Standard NM_000085 NM_000085 Approved hClC-Kb P51801 OTTHUMG00000009530 ENST00000375679.4:c.1356C>T 1.__UNKNOWN__:g.16378263C>T B3KUY3|Q5T5Q7|Q5T5Q8 __UNKNOWN__ CCDS168.1 CLCNKB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000026331.1 + ENST00000375679.4 Silent SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE CACNA2D3 55799 broad.mit.edu 37 3 54871235 54871235 + Missense_Mutation SNP T T C TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr3:54871235T>C ENST00000474759.1 + 15.0 1496 c.1448T>C c.(1447-1449)gTg>gCg p.V483A CACNA2D3_ENST00000490478.1_Missense_Mutation_p.V389A|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.V483A|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.V483A NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 483.0 Cache. integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) 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) 59.0 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421) GCCATGCCTGTGTTTAGTAAG 0.542 0 209.0 204.0 206.0 3 54871235.0 2006.0 4176.0 6182.0 SO:0001583 missense AJ272268 CCDS54598.1 3p21.1 2010-10-05 2008-02-26 ENSG00000157445 ENSG00000157445 55799.0 55799.0 """Calcium channel subunits""" 15460.0 protein-coding gene gene with protein product 606399.0 11245980 Standard XM_005265318 Approved HSA272268 uc003dhf.3 Q8IZS8 OTTHUMG00000158580 ENST00000474759.1:c.1448T>C 3.__UNKNOWN__:g.54871235T>C ENSP00000419101:p.Val483Ala B2RPL6|Q9NY16|Q9NY18 __UNKNOWN__ CCDS54598.1 . . . . . . . . . . T 26.3 4.720671 0.89205 . . ENSG00000157445 ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476 T;T;T;T 0.12984 2.63;2.63;2.63;2.66 6.06 6.06 0.98353 Cache (1); 0.000000 0.85682 D 0.000000 T 0.40196 0.1107 M 0.81497 2.545 0.47511 D 0.999443 D 0.57899 0.981 D 0.72338 0.977 T 0.18023 -1.0350 10 0.48119 T 0.1 0.0 15.1804 0.72952 0.0:0.0:0.0:1.0 . 483 Q8IZS8 CA2D3_HUMAN A 483;483;483;389;389;382 ENSP00000389506:V483A;ENSP00000419101:V483A;ENSP00000288197:V483A;ENSP00000417279:V389A ENSP00000288197:V483A V + 2 0 CACNA2D3 54846275 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 7.119000 0.77145 2.324000 0.78689 0.533000 0.62120 GTG CACNA2D3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351402.1 + ENST00000474759.1 Missense_Mutation SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE KDM5C 8242 broad.mit.edu 37 X 53231143 53231143 + Missense_Mutation SNP T T C TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chrX:53231143T>C ENST00000375379.3 - 13.0 2291 c.1759A>G c.(1759-1761)Aac>Gac p.N587D KDM5C_ENST00000404049.3_Missense_Mutation_p.N586D|KDM5C_ENST00000452825.3_Missense_Mutation_p.N520D|KDM5C_ENST00000375383.3_Missense_Mutation_p.N546D|KDM5C_ENST00000375401.3_Missense_Mutation_p.N587D|KDM5C_ENST00000465402.1_5'UTR P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 587.0 JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}. histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270) 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) 82.0 GCACACTGGTTTGTGCGGACA 0.478 """N, F, S""" clear cell renal carcinoma Rec yes X Xp11.22-p11.21 8242.0 lysine (K)-specific demethylase 5C (JARID1C) E 0 111.0 97.0 102.0 X 53231143.0 2203.0 4300.0 6503.0 SO:0001583 missense Z29650 CCDS14351.1, CCDS55417.1, CCDS65269.1 Xp11.22-p11.21 2014-01-31 2009-04-06 2009-04-06 ENSG00000126012 ENSG00000126012 8242.0 8242.0 """Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type""" 11114.0 protein-coding gene gene with protein product 314690.0 """Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13""" SMCX, JARID1C, MRX13 7951230, 8162017, 19826449 Standard NM_004187 NM_004187 Approved DXS1272E, XE169 uc004drz.3 P41229 OTTHUMG00000021606 ENST00000375379.3:c.1759A>G X.__UNKNOWN__:g.53231143T>C ENSP00000364528:p.Asn587Asp B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5 __UNKNOWN__ . . . . . . . . . . T 16.04 3.011094 0.54361 . . ENSG00000126012 ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383 T;T;T;T;T 0.69685 -0.42;-0.42;-0.42;-0.42;-0.42 5.68 5.68 0.88126 Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1); 0.000000 0.85682 D 0.000000 T 0.38427 0.1040 N 0.00729 -1.24 0.51482 D 0.99992 B;B;B 0.25521 0.023;0.065;0.128 B;B;B 0.34138 0.023;0.134;0.176 T 0.44952 -0.9294 10 0.23891 T 0.37 -10.9174 12.6825 0.56930 0.0:0.0:0.0:1.0 . 520;586;587 F5H3T1;B0QZ44;P41229 .;.;KDM5C_HUMAN D 520;587;586;587;546 ENSP00000445176:N520D;ENSP00000364550:N587D;ENSP00000385394:N586D;ENSP00000364528:N587D;ENSP00000364532:N546D ENSP00000364528:N587D N - 1 0 KDM5C 53247868 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 8.040000 0.89188 1.902000 0.55061 0.486000 0.48141 AAC KDM5C-006 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000056738.1 - ENST00000375379.3 Missense_Mutation SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE AKAP10 11216 broad.mit.edu 37 17 19844268 19844268 + Silent SNP G G A TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr17:19844268G>A ENST00000395536.3 - 7.0 1116 c.1117C>T c.(1117-1119)Ctg>Ttg p.L373L AKAP10_ENST00000225737.6_Silent_p.L373L O43572 AKA10_HUMAN A kinase (PRKA) anchor protein 10 373.0 blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 21.0 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) CCACTGGTCAGCACTTCAATC 0.423 0 80.0 76.0 77.0 17 19844268.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF037439 CCDS11214.1 17p11.1 2008-07-18 ENSG00000108599 ENSG00000108599 11216.0 11216.0 """A-kinase anchor proteins""" 368.0 protein-coding gene gene with protein product """dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10""" 604694.0 9326583 Standard NM_007202 NM_007202 Approved D-AKAP2, PRKA10, MGC9414 uc002gwo.4 O43572 OTTHUMG00000059515 ENST00000395536.3:c.1117C>T 17.__UNKNOWN__:g.19844268G>A B2R650|Q96AJ7 __UNKNOWN__ CCDS11214.1 AKAP10-005 NOVEL non_canonical_TEC|basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000441144.3 - ENST00000395536.3 Silent SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE PAPSS2 9060 broad.mit.edu 37 10 89472868 89472868 + Missense_Mutation SNP C C T TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr10:89472868C>T ENST00000361175.4 + 3.0 551 c.182C>T c.(181-183)gCc>gTc p.A61V PAPSS2_ENST00000427144.2_Missense_Mutation_p.A65V|PAPSS2_ENST00000456849.1_Missense_Mutation_p.A61V|PAPSS2_ENST00000482258.1_3'UTR NM_004670.3 NP_004661.2 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 61.0 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20.0 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) ATAAGTTTTGCCCTGGAGGAG 0.473 0 148.0 151.0 150.0 10 89472868.0 2203.0 4300.0 6503.0 SO:0001583 missense AF091242 CCDS7385.1, CCDS44453.1 10q24 2008-02-07 ENSG00000198682 ENSG00000198682 9060.0 9060.0 2.7.7.4, 2.7.1.25 8604.0 protein-coding gene gene with protein product 603005.0 9771708 Standard NM_004670 Approved ATPSK2 uc001kex.3 O95340 OTTHUMG00000018683 ENST00000361175.4:c.182C>T 10.__UNKNOWN__:g.89472868C>T ENSP00000354436:p.Ala61Val Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30 __UNKNOWN__ CCDS7385.1 . . . . . . . . . . C 28.5 4.929172 0.92389 . . ENSG00000198682 ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981 T;T;T 0.78364 -1.17;-1.17;-1.17 5.87 5.87 0.94306 Adenylylsulphate kinase, C-terminal (3); 0.046950 0.85682 N 0.000000 D 0.89942 0.6861 M 0.90369 3.11 0.80722 D 1 D;D 0.76494 0.98;0.999 P;P 0.61477 0.717;0.889 D 0.91189 0.4982 10 0.87932 D 0 -17.7869 20.2245 0.98337 0.0:1.0:0.0:0.0 . 61;61 O95340;O95340-2 PAPS2_HUMAN;. V 61;61;65;60 ENSP00000354436:A61V;ENSP00000406157:A61V;ENSP00000397123:A65V ENSP00000354436:A61V A + 2 0 PAPSS2 89462848 1.000000 0.71417 1.000000 0.80357 0.521000 0.34408 7.487000 0.81328 2.770000 0.95276 0.650000 0.86243 GCC PAPSS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049229.1 + ENST00000361175.4 Missense_Mutation SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE CXorf22 170063 broad.mit.edu 37 X 35989875 35989875 + Missense_Mutation SNP T T A TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chrX:35989875T>A ENST00000297866.5 + 12.0 2209 c.2143T>A c.(2143-2145)Tct>Act p.S715T NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 715.0 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) 44.0 GGAGGAAGAGTCTGTGAGAAG 0.383 0 56.0 51.0 53.0 X 35989875.0 2202.0 4300.0 6502.0 SO:0001583 missense BC027936 CCDS14237.2 Xp21.1 2014-08-07 ENSG00000165164 ENSG00000165164 170063.0 170063.0 28546.0 protein-coding gene gene with protein product 12477932 Standard NM_152632 NM_152632 Approved MGC34831 uc004ddj.3 Q6ZTR5 OTTHUMG00000021350 ENST00000297866.5:c.2143T>A X.__UNKNOWN__:g.35989875T>A ENSP00000297866:p.Ser715Thr Q5JRM8|Q8N6X8 __UNKNOWN__ CCDS14237.2 . . . . . . . . . . T 3.023 -0.201409 0.06219 . . ENSG00000165164 ENST00000297866 T 0.14516 2.5 5.84 0.46 0.16684 . 0.238971 0.43416 D 0.000575 T 0.10680 0.0261 L 0.42245 1.32 0.09310 N 1 B 0.28419 0.211 B 0.31442 0.13 T 0.38067 -0.9678 10 0.06625 T 0.88 -18.8154 12.9555 0.58425 0.0:0.0:0.6128:0.3872 . 715 Q6ZTR5 CX022_HUMAN T 715 ENSP00000297866:S715T ENSP00000297866:S715T S + 1 0 CXorf22 35899796 0.009000 0.17119 0.000000 0.03702 0.001000 0.01503 1.018000 0.30002 -0.271000 0.09272 0.486000 0.48141 TCT CXorf22-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056216.2 + ENST00000297866.5 Missense_Mutation SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE VEZT 55591 broad.mit.edu 37 12 95660174 95660174 + Missense_Mutation SNP T T G TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr12:95660174T>G ENST00000436874.1 + 5.0 581 c.476T>G c.(475-477)aTg>aGg p.M159R VEZT_ENST00000261219.6_Missense_Mutation_p.M111R|VEZT_ENST00000356859.4_3'UTR NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 159.0 chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142) endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23.0 TTGCTCGTTATGCTTCCCACT 0.408 0 303.0 289.0 293.0 12 95660174.0 1906.0 4135.0 6041.0 SO:0001583 missense AF216644 CCDS44954.1 12q22 2011-02-15 ENSG00000028203 ENSG00000028203 55591.0 55591.0 18258.0 protein-coding gene gene with protein product 11080149, 16199027, 21156161 Standard NM_017599 NM_017599 Approved DKFZP761C241 uc001tdz.2 Q9HBM0 OTTHUMG00000170182 ENST00000436874.1:c.476T>G 12.__UNKNOWN__:g.95660174T>G ENSP00000410083:p.Met159Arg Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91 __UNKNOWN__ CCDS44954.1 . . . . . . . . . . T 14.17 2.455531 0.43634 . . ENSG00000028203 ENST00000436874;ENST00000549002;ENST00000261219;ENST00000551472;ENST00000552821;ENST00000546445;ENST00000397792;ENST00000397796 T;T;T;T;T;T 0.47869 1.07;0.91;1.07;0.83;0.87;1.07 5.39 5.39 0.77823 . 0.193646 0.64402 D 0.000020 T 0.54224 0.1845 L 0.54323 1.7 0.41378 D 0.987536 D;P;P;P 0.55800 0.973;0.873;0.547;0.602 P;P;B;B 0.54590 0.756;0.5;0.26;0.378 T 0.57242 -0.7845 10 0.52906 T 0.07 -17.0707 9.8707 0.41172 0.0:0.0764:0.0:0.9236 . 159;159;111;111 C9J154;Q9HBM0;F8W8C2;F2Z3A6 .;VEZA_HUMAN;.;. R 159;129;111;178;150;81;111;159 ENSP00000410083:M159R;ENSP00000449591:M129R;ENSP00000261219:M111R;ENSP00000449701:M178R;ENSP00000447151:M81R;ENSP00000380894:M111R ENSP00000261219:M111R M + 2 0 VEZT 94184305 1.000000 0.71417 0.981000 0.43875 0.039000 0.13416 3.477000 0.53151 2.023000 0.59567 0.528000 0.53228 ATG VEZT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407804.2 + ENST00000436874.1 Missense_Mutation SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE OR2Y1 134083 broad.mit.edu 37 5 180166493 180166493 + Missense_Mutation SNP G G A TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr5:180166493G>A ENST00000307832.2 - 1.0 606 c.566C>T c.(565-567)gCg>gTg p.A189V NM_001001657.1 NP_001001657.1 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, member 1 189.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20.0 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCTGTGTCCGCACAAGCCAA 0.507 0 82.0 70.0 74.0 5 180166493.0 2203.0 4300.0 6503.0 SO:0001583 missense AB065676 CCDS34323.1 5q35 2012-08-09 ENSG00000174339 ENSG00000174339 134083.0 134083.0 """GPCR / Class A : Olfactory receptors""" 14837.0 protein-coding gene gene with protein product Standard XM_068682 NM_001001657 Approved uc003mmf.1 Q8NGV0 OTTHUMG00000162237 ENST00000307832.2:c.566C>T 5.__UNKNOWN__:g.180166493G>A ENSP00000312403:p.Ala189Val B9EIP1|Q6IFB1|Q96R16 __UNKNOWN__ CCDS34323.1 . . . . . . . . . . g 0.125 -1.120816 0.01785 . . ENSG00000174339 ENST00000307832 T 0.00137 8.68 4.41 -8.81 0.00813 GPCR, rhodopsin-like superfamily (1); 2.447600 0.01860 N 0.036546 T 0.00039 0.0001 N 0.02685 -0.53 0.09310 N 1 B 0.06786 0.001 B 0.01281 0.0 T 0.45891 -0.9230 10 0.02654 T 1 . 1.5139 0.02502 0.3935:0.1488:0.3068:0.1509 . 189 Q8NGV0 OR2Y1_HUMAN V 189 ENSP00000312403:A189V ENSP00000312403:A189V A - 2 0 OR2Y1 180099099 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -0.460000 0.06720 -1.715000 0.01389 -1.294000 0.01345 GCG OR2Y1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000368059.2 - ENST00000307832.2 Missense_Mutation SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE POTEG 404785 broad.mit.edu 37 14 19553785 19553785 + Silent SNP C C T TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr14:19553785C>T ENST00000409832.3 + 1.0 421 c.369C>T c.(367-369)taC>taT p.Y123Y NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 123.0 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47.0 GGGGAGACTACGACGACAGCG 0.592 0 C 1,4401 0,1,2200 335.0 369.0 358.0 369 -1.6 0.0 14 358.0 0,8594 0,0,4297 no coding-synonymous POTEG NM_001005356.2 0,1,6497 TT,TC,CC 0.0,0.0227,0.0077 123/509 19553785.0 1,12995 2201.0 4297.0 6498.0 SO:0001819 synonymous_variant CCDS73610.1 14q11.2 2013-01-10 2008-11-26 2008-11-26 ENSG00000222036 ENSG00000222036 404785.0 404785.0 """POTE ankyrin domain containing"", ""Ankyrin repeat domain containing""" 33896.0 protein-coding gene gene with protein product """cancer/testis antigen family 104, member 4""" 608916.0 """ANKRD26-like family C, member 2""" A26C2 Standard NM_001005356 NR_027480 Approved POTE14, POTE-14, POTE14alpha, CT104.4 uc001vuz.1 Q6S5H5 OTTHUMG00000170340 ENST00000409832.3:c.369C>T 14.__UNKNOWN__:g.19553785C>T A1L153|A6NMI9|Q6S5H6|Q6S8J2 __UNKNOWN__ CCDS32018.1 POTEG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000408579.1 + ENST00000409832.3 Silent SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE MXD3 83463 broad.mit.edu 37 5 176737513 176737513 + Missense_Mutation SNP G G A TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr5:176737513G>A ENST00000439742.2 - 4.0 713 c.235C>T c.(235-237)Cgg>Tgg p.R79W MXD3_ENST00000513063.1_Missense_Mutation_p.R79W|MXD3_ENST00000427908.2_Missense_Mutation_p.R79W|MXD3_ENST00000423571.2_Missense_Mutation_p.R79W NM_031300.3 NP_112590.1 Q9BW11 MAD3_HUMAN MAX dimerization protein 3 79.0 bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}. negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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) TGCTTCAGCCGCTCCAGGCAC 0.692 0 22.0 27.0 25.0 5 176737513.0 2202.0 4299.0 6501.0 SO:0001583 missense BC000745 CCDS4416.1, CCDS47347.1 5q35.3 2013-03-20 ENSG00000213347 ENSG00000213347 83463.0 83463.0 """MAX dimerization proteins"", ""Basic helix-loop-helix proteins""" 14008.0 protein-coding gene gene with protein product 609450.0 Standard NM_031300 Approved MAD3, bHLHc13 uc003mgb.2 Q9BW11 OTTHUMG00000130854 ENST00000439742.2:c.235C>T 5.__UNKNOWN__:g.176737513G>A ENSP00000401867:p.Arg79Trp B4E0J1|Q53HK1|Q7Z4Y0|Q8NDJ7|Q96ME3 __UNKNOWN__ CCDS4416.1 . . . . . . . . . . G 24.7 4.559404 0.86335 . . ENSG00000213347 ENST00000427908;ENST00000423571;ENST00000439742;ENST00000303165;ENST00000513063;ENST00000502529 D;D;D;D;D 0.98090 -4.71;-4.71;-4.71;-4.71;-4.71 4.75 3.88 0.44766 Helix-loop-helix DNA-binding (5); 0.124595 0.56097 D 0.000035 D 0.97685 0.9241 L 0.39245 1.2 0.36578 D 0.873389 D;D;D;D 0.89917 0.999;0.987;0.99;1.0 D;P;P;D 0.77557 0.941;0.528;0.636;0.99 D 0.99952 1.1558 10 0.87932 D 0 -6.4933 14.781 0.69766 0.0:0.1452:0.8548:0.0 . 79;70;79;79 Q9BW11-3;F8W9D2;Q9BW11;B4E0J1 .;.;MAD3_HUMAN;. W 79;79;79;70;79;69 ENSP00000416921:R79W;ENSP00000389716:R79W;ENSP00000401867:R79W;ENSP00000421463:R79W;ENSP00000425029:R69W ENSP00000307720:R70W R - 1 2 MXD3 176670119 1.000000 0.71417 1.000000 0.80357 0.917000 0.54804 4.548000 0.60718 1.207000 0.43291 0.561000 0.74099 CGG MXD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253427.1 - ENST00000439742.2 Missense_Mutation SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE ALK 238 broad.mit.edu 37 2 29551323 29551323 + Missense_Mutation SNP G G A TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr2:29551323G>A ENST00000389048.3 - 6.0 2213 c.1307C>T c.(1306-1308)gCc>gTc p.A436V ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 436.0 activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234) ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) p.A436V(1) 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) 340.0 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171)|Crizotinib(DB08865) GCTCTGCAGGGCCATCTTGGA 0.592 """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 yes Dom yes Familial neuroblastoma 2 2p23 238.0 anaplastic lymphoma kinase (Ki-1) """L, E, M""" 1 Substitution - Missense(1) large_intestine(1) 78.0 70.0 73.0 2 29551323.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease D45915 CCDS33172.1 2p23 2014-09-17 2008-01-23 ENSG00000171094 ENSG00000171094 238.0 238.0 """CD molecules""" 427.0 protein-coding gene gene with protein product 105590.0 """anaplastic lymphoma kinase (Ki-1)""" 8122112 Standard NM_004304 NM_004304 Approved CD246 uc002rmy.3 Q9UM73 OTTHUMG00000152034 ENST00000389048.3:c.1307C>T 2.__UNKNOWN__:g.29551323G>A ENSP00000373700:p.Ala436Val Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6 __UNKNOWN__ CCDS33172.1 . . . . . . . . . . g 22.3 4.267837 0.80469 . . ENSG00000171094 ENST00000389048 T 0.77620 -1.11 5.2 5.2 0.72013 . 0.000000 0.47455 U 0.000222 T 0.62539 0.2436 N 0.24115 0.695 0.80722 D 1 B 0.32071 0.355 B 0.23419 0.046 T 0.61242 -0.7102 9 . . . . 14.2651 0.66113 0.0:0.0:1.0:0.0 . 436 Q9UM73 ALK_HUMAN V 436 ENSP00000373700:A436V . A - 2 0 ALK 29404827 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 4.300000 0.59079 2.445000 0.82738 0.394000 0.25966 GCC ALK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000324994.1 - ENST00000389048.3 Missense_Mutation SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE YEATS2 55689 broad.mit.edu 37 3 183504057 183504057 + Missense_Mutation SNP G G A TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr3:183504057G>A ENST00000305135.5 + 20.0 3076 c.2881G>A c.(2881-2883)Gtg>Atg p.V961M NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 961.0 chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892) Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686) TBP-class protein binding (GO:0017025) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49.0 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) TTCCCCTGCCGTGGCCCTCTC 0.517 G 1.0 0.0005 2184.0 0.0017 0.9996 , , 0.0003 0.0007 0.7186 LOWCOV,EXOME 0.0004 SNP 0 G MET/VAL 2,4018 0,2,2008 68.0 69.0 69.0 2881 2.1 0.2 3 69.0 0,8356 0,0,4178 no missense YEATS2 NM_018023.4 21 0,2,6186 AA,AG,GG 0.0,0.0498,0.0162 probably-damaging 961/1423 183504057.0 2,12374 2010.0 4178.0 6188.0 SO:0001583 missense AB033023 CCDS43175.1 3q27.3 2004-08-18 ENSG00000163872 ENSG00000163872 55689.0 55689.0 25489.0 protein-coding gene gene with protein product 613373.0 10574462 Standard NM_018023 NM_018023 Approved FLJ10201, FLJ12841, FLJ13308, KIAA1197 uc003fly.2 Q9ULM3 OTTHUMG00000156898 ENST00000305135.5:c.2881G>A 3.__UNKNOWN__:g.183504057G>A ENSP00000306983:p.Val961Met A7E2B9|D3DNS9|Q641P6|Q9NW96 __UNKNOWN__ CCDS43175.1 1|1 4.578754578754579E-4|4.578754578754579E-4 0|0 0.0|0.0 0|0 0.0|0.0 1|1 0.0017482517482517483|0.0017482517482517483 0|0 0.0|0.0 G|G 12.18|12.18 1.860188|1.860188 0.32884|0.32884 4.98E-4|4.98E-4 0.0|0.0 ENSG00000163872|ENSG00000163872 ENST00000432781|ENST00000421660;ENST00000305135 .|T .|0.22134 .|1.97 5.88|5.88 2.08|2.08 0.27032|0.27032 .|. .|0.406531 .|0.24708 .|N .|0.036257 T|T 0.12518|0.12518 0.0304|0.0304 L|L 0.27053|0.27053 0.805|0.805 0.09310|0.09310 N|N 1|1 .|B;B .|0.22003 .|0.063;0.017 .|B;B .|0.15870 .|0.014;0.003 T|T 0.19418|0.19418 -1.0306|-1.0306 5|10 .|0.48119 .|T .|0.1 -2.9561|-2.9561 6.108|6.108 0.20084|0.20084 0.2055:0.2512:0.5433:0.0|0.2055:0.2512:0.5433:0.0 .|. .|123;961 .|Q8N5H6;Q9ULM3 .|.;YETS2_HUMAN H|M 146|961 .|ENSP00000306983:V961M .|ENSP00000306983:V961M R|V +|+ 2|1 0|0 YEATS2|YEATS2 184986751|184986751 0.501000|0.501000 0.26099|0.26099 0.205000|0.205000 0.23548|0.23548 0.955000|0.955000 0.61496|0.61496 0.697000|0.697000 0.25556|0.25556 0.102000|0.102000 0.17638|0.17638 -0.136000|-0.136000 0.14681|0.14681 CGT|GTG YEATS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346507.2 + ENST00000305135.5 Missense_Mutation SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE DENND5A 23258 broad.mit.edu 37 11 9225671 9225671 + Missense_Mutation SNP T T C TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr11:9225671T>C ENST00000530044.1 - 4.0 502 c.485A>G c.(484-486)gAt>gGt p.D162G DENND5A_ENST00000328194.3_Missense_Mutation_p.D162G Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 162.0 positive regulation of Rab GTPase activity (GO:0032851) Golgi apparatus (GO:0005794)|membrane (GO:0016020) Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39.0 ATGTAGGACATCATACTCAGC 0.507 0 185.0 140.0 155.0 11 9225671.0 2201.0 4296.0 6497.0 SO:0001583 missense AB029014 CCDS31423.1, CCDS58119.1 11p15.3 2012-10-03 2008-08-14 2008-08-14 ENSG00000184014 ENSG00000184014 23258.0 23258.0 """DENN/MADD domain containing""" 19344.0 protein-coding gene gene with protein product """RAB6 interacting protein 1""" RAB6IP1 10470851 Standard NM_015213 NM_015213 Approved KIAA1091, FLJ22354, FLJ33829, FLJ43455 uc001mhl.3 Q6IQ26 OTTHUMG00000165716 ENST00000530044.1:c.485A>G 11.__UNKNOWN__:g.9225671T>C ENSP00000435866:p.Asp162Gly B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1 __UNKNOWN__ CCDS58119.1 . . . . . . . . . . T 13.51 2.258085 0.39896 . . ENSG00000184014 ENST00000328194;ENST00000530044 T;T 0.03951 3.75;3.75 5.54 5.54 0.83059 . 0.097853 0.64402 D 0.000001 T 0.08179 0.0204 M 0.63428 1.95 0.80722 D 1 B;B 0.06786 0.001;0.001 B;B 0.04013 0.001;0.001 T 0.12837 -1.0532 10 0.29301 T 0.29 . 15.6969 0.77506 0.0:0.0:0.0:1.0 . 162;162 E9PS91;Q6IQ26 .;DEN5A_HUMAN G 162 ENSP00000328524:D162G;ENSP00000435866:D162G ENSP00000328524:D162G D - 2 0 DENND5A 9182247 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 5.168000 0.64978 2.108000 0.64289 0.533000 0.62120 GAT DENND5A-003 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000385912.1 - ENST00000530044.1 Missense_Mutation SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE C14orf28 122525 broad.mit.edu 37 14 45369991 45369991 + Missense_Mutation SNP A A G TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr14:45369991A>G ENST00000557112.1 + 2.0 588 c.353A>G c.(352-354)tAc>tGc p.Y118C C14orf28_ENST00000325192.3_Missense_Mutation_p.Y118C|RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000553841.1_3'UTR Q4W4Y0 CN028_HUMAN chromosome 14 open reading frame 28 118.0 endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2) 11.0 AAACAGCAATACAAATCTGAA 0.323 0 40.0 43.0 42.0 14 45369991.0 2203.0 4300.0 6503.0 SO:0001583 missense AA496212 CCDS32069.1 14q21.2 2012-08-16 ENSG00000179476 ENSG00000179476 122525.0 122525.0 19834.0 protein-coding gene gene with protein product """dopamine receptor interacting protein 1""" Standard NM_001017923 XM_005267316 Approved DRIP-1 uc001wvo.3 Q4W4Y0 OTTHUMG00000170722 ENST00000557112.1:c.353A>G 14.__UNKNOWN__:g.45369991A>G ENSP00000451791:p.Tyr118Cys __UNKNOWN__ . . . . . . . . . . A 14.48 2.548864 0.45383 . . ENSG00000179476 ENST00000325192;ENST00000557112 T;T 0.32753 1.44;1.44 5.86 5.86 0.93980 . 0.000000 0.85682 D 0.000000 T 0.41465 0.1160 N 0.19112 0.55 0.80722 D 1 D 0.89917 1.0 D 0.83275 0.996 T 0.41395 -0.9511 10 0.87932 D 0 . 14.5065 0.67755 1.0:0.0:0.0:0.0 . 118 Q4W4Y0 CN028_HUMAN C 118 ENSP00000326846:Y118C;ENSP00000451791:Y118C ENSP00000326846:Y118C Y + 2 0 C14orf28 44439741 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.697000 0.84279 2.367000 0.80283 0.528000 0.53228 TAC C14orf28-003 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000410087.1 + ENST00000557112.1 Missense_Mutation SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE OR4F6 390648 broad.mit.edu 37 15 102346304 102346304 + Nonsense_Mutation SNP A A T TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr15:102346304A>T ENST00000328882.4 + 1.0 403 c.382A>T c.(382-384)Aag>Tag p.K128* NM_001005326.1 NP_001005326.1 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, member 6 128.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22.0 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) GGCCATATGTAAGCCTCTCCA 0.448 0 255.0 226.0 236.0 15 102346304.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AC025234 CCDS32341.1 15q26.3 2014-02-19 2002-02-28 ENSG00000184140 ENSG00000184140 390648.0 390648.0 """GPCR / Class A : Olfactory receptors""" 15372.0 protein-coding gene gene with protein product """olfactory receptor, family 4, subfamily F, member 12""" OR4F12 Standard NM_001005326 Approved uc010utr.2 Q8NGB9 OTTHUMG00000172267 ENST00000328882.4:c.382A>T 15.__UNKNOWN__:g.102346304A>T ENSP00000327525:p.Lys128* B9EH28|Q6IF95 __UNKNOWN__ CCDS32341.1 . . . . . . . . . . . 26.3 4.724148 0.89298 . . ENSG00000184140 ENST00000328882 . . . 4.78 4.78 0.61160 . 0.137951 0.32055 N 0.006647 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 . 7.2347 0.26064 0.9018:0.0:0.0982:0.0 . . . . X 128 . ENSP00000327525:K128X K + 1 0 OR4F6 100163827 0.001000 0.12720 1.000000 0.80357 0.989000 0.77384 0.011000 0.13264 2.139000 0.66308 0.482000 0.46254 AAG OR4F6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000417593.1 + ENST00000328882.4 Nonsense_Mutation SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE PC 5091 broad.mit.edu 37 11 66638898 66638898 + Silent SNP C C T TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr11:66638898C>T ENST00000393958.2 - 5.0 468 c.375G>A c.(373-375)gcG>gcA p.A125A PC_ENST00000393955.2_Silent_p.A125A|PC_ENST00000524491.1_Silent_p.A85A|PC_ENST00000355677.3_Silent_p.A125A|PC_ENST00000393960.1_Silent_p.A125A NM_000920.3 NP_000911.2 P11498 PYC_HUMAN pyruvate carboxylase 125.0 Biotin carboxylation. biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736) cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32.0 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GGGCGAAGTCCGCTCGCTCAG 0.632 0 88.0 94.0 92.0 11 66638898.0 2200.0 4295.0 6495.0 SO:0001819 synonymous_variant U04641 CCDS8152.1 11q13.4-q13.5 2012-07-11 ENSG00000173599 ENSG00000173599 5091.0 5091.0 6.4.1.1 8636.0 protein-coding gene gene with protein product 608786.0 6548474 Standard NM_001040716 NM_022172 Approved PCB uc001ojn.1 P11498 OTTHUMG00000167099 ENST00000393958.2:c.375G>A 11.__UNKNOWN__:g.66638898C>T B4DN00|Q16705 __UNKNOWN__ CCDS8152.1 PC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393115.1 - ENST00000393958.2 Silent SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE DNASE2B 58511 broad.mit.edu 37 1 84878060 84878060 + Silent SNP C C T TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr1:84878060C>T ENST00000370665.3 + 5.0 609 c.576C>T c.(574-576)aaC>aaT p.N192N DNASE2B_ENST00000370662.3_5'UTR NM_021233.2 NP_067056.2 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta 192.0 apoptotic DNA fragmentation (GO:0006309) extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764) deoxyribonuclease II activity (GO:0004531) endometrium(1)|lung(4)|skin(1) 6.0 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) GCAACCCCAACGTCTATAGCT 0.478 Pancreas(54;788 1175 11852 16034 30034) 0 81.0 82.0 82.0 1 84878060.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF274571 CCDS694.1, CCDS44167.1 1p22.3 2008-02-05 ENSG00000137976 ENSG00000137976 58511.0 58511.0 28875.0 protein-coding gene gene with protein product 608057.0 12594037, 11376952 Standard NM_021233 NM_021233 Approved DLAD uc001djt.1 Q8WZ79 OTTHUMG00000009860 ENST00000370665.3:c.576C>T 1.__UNKNOWN__:g.84878060C>T Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3 __UNKNOWN__ CCDS44167.1 DNASE2B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000027248.1 + ENST00000370665.3 Silent SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE PCDHB4 0 broad.mit.edu 37 5 140501812 140501812 + Missense_Mutation SNP C C T TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr5:140501812C>T ENST00000194152.1 + 1.0 232 c.232C>T c.(232-234)Cgt>Tgt p.R78C NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 78.0 Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}. calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67.0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGCTGGATCGTCAGACTGG 0.552 0 62.0 65.0 64.0 5 140501812.0 2203.0 4300.0 6503.0 SO:0001583 missense AF152497 CCDS4246.1 5q31 2010-01-26 ENSG00000081818 ENSG00000081818 56131.0 56131.0 """Cadherins / Protocadherins : Clustered""" 8689.0 other protocadherin 606330.0 10380929 Standard NM_018938 NM_018938 Approved PCDH-BETA4 uc003lip.1 Q9Y5E5 OTTHUMG00000129617 ENST00000194152.1:c.232C>T 5.__UNKNOWN__:g.140501812C>T ENSP00000194152:p.Arg78Cys Q4V761 __UNKNOWN__ CCDS4246.1 . . . . . . . . . . C 9.635 1.137437 0.21123 . . ENSG00000081818 ENST00000194152 T 0.39229 1.09 4.66 0.684 0.18003 Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1); . . . . T 0.39759 0.1090 M 0.64997 1.995 0.09310 N 1 P 0.41643 0.758 B 0.40825 0.341 T 0.19451 -1.0305 9 0.41790 T 0.15 . 9.5148 0.39098 0.0:0.2952:0.5555:0.1492 . 78 Q9Y5E5 PCDB4_HUMAN C 78 ENSP00000194152:R78C ENSP00000194152:R78C R + 1 0 PCDHB4 140481996 0.000000 0.05858 0.084000 0.20598 0.952000 0.60782 -2.812000 0.00754 0.004000 0.14682 -0.150000 0.13652 CGT PCDHB4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251812.2 + ENST00000194152.1 Missense_Mutation SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE MMS19 64210 broad.mit.edu 37 10 99220451 99220451 + Splice_Site DEL C C - TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr10:99220451delC ENST00000438925.2 - 25.0 2805 c.e25+1 MMS19_ENST00000355839.6_Splice_Site|MMS19_ENST00000370782.2_Splice_Site|MMS19_ENST00000327277.7_Splice_Site|MMS19_ENST00000327238.10_Splice_Site NM_022362.4 NP_071757.4 Q96T76 MMS19_HUMAN MMS19 nucleotide excision repair homolog (S. cerevisiae) cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819) estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713) endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1) 16.0 Colorectal(252;0.0846) Epithelial(162;3.33e-10)|all cancers(201;2.74e-08) AAAGGACGTACCCGGGCTGTA 0.493 Direct reversal of damage 0 71.0 67.0 68.0 10 99220451.0 2202.0 4300.0 6502.0 SO:0001630 splice_region_variant AF007151 CCDS7464.1, CCDS73177.1 10q24-q25 2007-08-15 2007-08-15 2007-08-15 ENSG00000155229 ENSG00000155229 64210.0 64210.0 13824.0 protein-coding gene gene with protein product """MET18 homolog (S. cerevisiae)""" 614777.0 MMS19L 11071939 Standard NM_022362 Approved MET18, hMMS19 uc001kns.4 Q96T76 OTTHUMG00000018857 ENST00000438925.2:c.2469+1G>- 10.__UNKNOWN__:g.99220451delC B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9 __UNKNOWN__ CCDS7464.1 MMS19-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049706.2 Intron - ENST00000438925.2 Splice_Site DEL PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE OR10G4 390264 bcgsc.ca 37 11 123887115 123887115 + Silent SNP G G A TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr11:123887115G>A ENST00000320891.4 + 1.0 834 c.834G>A c.(832-834)ctG>ctA p.L278L NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 278.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48.0 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) ACACTGTGCTGACGCCCCTTC 0.473 0 109.0 94.0 99.0 11 123887115.0 2201.0 4299.0 6500.0 SO:0001819 synonymous_variant AB065757 CCDS31702.1 11q24.1 2012-08-09 ENSG00000254737 ENSG00000254737 390264.0 390264.0 """GPCR / Class A : Olfactory receptors""" 14809.0 protein-coding gene gene with protein product Standard NM_001004462 NM_001004462 Approved uc010sac.2 Q8NGN3 OTTHUMG00000165966 ENST00000320891.4:c.834G>A 11.__UNKNOWN__:g.123887115G>A Q6IEW0 __UNKNOWN__ CCDS31702.1 OR10G4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387268.1 + ENST00000320891.4 Silent SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE Unknown 0 bcgsc.ca 37 6 144521652 144521652 + RNA SNP A A G TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr6:144521652A>G STX11 (12145 upstream) : UTRN (91312 downstream) TCTTCACGGTAGTCCAATAGA 0.353 0 SO:0001628 intergenic_variant 6.__UNKNOWN__:g.144521652A>G __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE BIRC6 57448 ucsc.edu 37 2 32693673 32693673 + Missense_Mutation SNP A A T TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr2:32693673A>T ENST00000421745.2 + 29.0 6083 c.5949A>T c.(5947-5949)caA>caT p.Q1983H NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 1983.0 apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712) endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802) acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842) 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) 172.0 Acute lymphoblastic leukemia(172;0.155) TACAGCTTCAACTAAATTTGG 0.403 Pancreas(94;175 1509 16028 18060 45422) 0 112.0 112.0 112.0 2 32693673.0 2203.0 4300.0 6503.0 SO:0001583 missense AF265555 CCDS33175.2 2p22.3 2011-01-25 2011-01-25 ENSG00000115760 ENSG00000115760 57448.0 57448.0 """Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2""" 13516.0 protein-coding gene gene with protein product """apollon""" 605638 """baculoviral IAP repeat-containing 6""" 10544019 Standard NM_016252 NM_016252 Approved BRUCE uc010ezu.3 Q9NR09 OTTHUMG00000150528 ENST00000421745.2:c.5949A>T 2.__UNKNOWN__:g.32693673A>T ENSP00000393596:p.Gln1983His Q9ULD1 __UNKNOWN__ CCDS33175.2 . . . . . . . . . . A 16.54 3.151095 0.57151 . . ENSG00000115760 ENST00000421745 D 0.88741 -2.42 5.57 0.189 0.15119 . 0.000000 0.85682 D 0.000000 D 0.92512 0.7622 M 0.75085 2.285 0.45150 D 0.998164 D 0.61697 0.99 D 0.72982 0.979 D 0.90782 0.4680 10 0.87932 D 0 . 10.8392 0.46704 0.5083:0.0:0.4917:0.0 . 1983 Q9NR09 BIRC6_HUMAN H 1983 ENSP00000393596:Q1983H ENSP00000393596:Q1983H Q + 3 2 BIRC6 32547177 0.999000 0.42202 0.915000 0.36163 0.950000 0.60333 0.693000 0.25497 -0.196000 0.10366 -0.269000 0.10298 CAA BIRC6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318769.3 + ENST00000421745.2 Missense_Mutation SNP PCPG-TCGA-QR-A6ZZ-Normal-SM-5EQHE SERPINF1 5176 broad.mit.edu 37 17 1675256 1675256 + Missense_Mutation SNP T T G TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr17:1675256T>G ENST00000254722.4 + 5.0 693 c.530T>G c.(529-531)cTg>cGg p.L177R NM_002615.5 NP_002606.3 P36955 PEDF_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 177.0 aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) serine-type endopeptidase inhibitor activity (GO:0004867) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 16.0 CGCTTGGACCTGCAAGAGATC 0.542 0 82.0 76.0 78.0 17 1675256.0 2203.0 4300.0 6503.0 SO:0001583 missense M76979 CCDS11012.1 17p13.3 2014-02-18 2005-08-18 ENSG00000132386 ENSG00000132386 5176.0 5176.0 """Serine (or cysteine) peptidase inhibitors""" 8824.0 protein-coding gene gene with protein product """pigment epithelium-derived factor"", ""proliferation-inducing protein 35""" 172860.0 """serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1""" PEDF 8434014, 24172014 Standard NM_002615 NM_002615 Approved EPC-1, PIG35 uc002ftl.3 P36955 OTTHUMG00000090571 ENST00000254722.4:c.530T>G 17.__UNKNOWN__:g.1675256T>G ENSP00000254722:p.Leu177Arg F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4 __UNKNOWN__ CCDS11012.1 . . . . . . . . . . T 15.15 2.747907 0.49257 . . ENSG00000132386 ENST00000254722 D 0.82433 -1.61 5.79 4.71 0.59529 Serpin domain (3); 0.181464 0.49305 D 0.000148 D 0.87589 0.6215 M 0.66297 2.02 0.80722 D 1 D 0.89917 1.0 D 0.80764 0.994 D 0.84513 0.0623 10 0.08179 T 0.78 . 12.4497 0.55671 0.1257:0.0:0.0:0.8743 . 177 P36955 PEDF_HUMAN R 177 ENSP00000254722:L177R ENSP00000254722:L177R L + 2 0 SERPINF1 1622006 1.000000 0.71417 0.991000 0.47740 0.014000 0.08584 2.956000 0.49129 1.018000 0.39521 -0.378000 0.06908 CTG SERPINF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207109.4 + ENST00000254722.4 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL AGPAT3 56894 broad.mit.edu 37 21 45401061 45401061 + Silent SNP G G A TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr21:45401061G>A ENST00000398063.2 + 8.0 1527 c.1035G>A c.(1033-1035)gtG>gtA p.V345V AGPAT3_ENST00000398058.1_Silent_p.V345V|AGPAT3_ENST00000398061.1_Silent_p.V345V|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000327505.2_Silent_p.V345V|AGPAT3_ENST00000291572.8_Silent_p.V345V|AGPAT3_ENST00000546158.1_Silent_p.V345V NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 345.0 CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11.0 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) TGGGGTTTGTGGGAGCAGGTA 0.562 Pancreas(60;623 1650 5574 52796) 0 127.0 108.0 114.0 21 45401061.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF156774 CCDS13703.1 21q22.3 2013-02-05 ENSG00000160216 ENSG00000160216 56894.0 56894.0 2.3.1.51 """1-acylglycerol-3-phosphate O-acyltransferases""" 326.0 protein-coding gene gene with protein product 614794.0 Standard NM_020132 XM_005261159 Approved LPAAT-gamma uc002zdw.3 Q9NRZ7 OTTHUMG00000086892 ENST00000398063.2:c.1035G>A 21.__UNKNOWN__:g.45401061G>A D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6 __UNKNOWN__ CCDS13703.1 AGPAT3-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000195722.1 + ENST00000398063.2 Silent SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL KIAA1407 57577 broad.mit.edu 37 3 113723435 113723435 + Missense_Mutation SNP C C A TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr3:113723435C>A ENST00000295878.3 - 11.0 2125 KIAA1407_ENST00000545063.1_Missense_Mutation_p.R507I NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40.0 ACATTCTACTCTAGGAGAGAA 0.468 0 121.0 109.0 113.0 3 113723435.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AF509494 CCDS2977.1 3q13.31 2005-01-10 ENSG00000163617 ENSG00000163617 57577.0 57577.0 29272.0 protein-coding gene gene with protein product 10718198 Standard NM_020817 NM_020817 Approved uc003eax.3 Q8NCU4 OTTHUMG00000159337 ENST00000295878.3:c.1978+48G>T 3.__UNKNOWN__:g.113723435C>A B4DYL1|Q9P2E0 __UNKNOWN__ CCDS2977.1 . . . . . . . . . . C 11.83 1.755422 0.31046 . . ENSG00000163617 ENST00000545063 T 0.48522 0.81 4.31 -0.771 0.11002 . . . . . T 0.29389 0.0732 . . . 0.09310 N 1 P 0.43094 0.799 B 0.34242 0.178 T 0.16394 -1.0404 8 0.87932 D 0 . 4.8278 0.13425 0.0:0.4429:0.27:0.287 . 552 B4DIZ9 . I 507 ENSP00000446381:R507I ENSP00000446381:R507I R - 2 0 KIAA1407 115206125 0.002000 0.14202 0.000000 0.03702 0.004000 0.04260 0.160000 0.16462 -0.157000 0.11059 0.650000 0.86243 AGA KIAA1407-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000354724.2 - ENST00000295878.3 Intron SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL ARHGEF12 23365 broad.mit.edu 37 11 120349003 120349003 + Missense_Mutation SNP C C T TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr11:120349003C>T ENST00000397843.2 + 37.0 3837 c.3671C>T c.(3670-3672)aCa>aTa p.T1224I ARHGEF12_ENST00000532993.1_Missense_Mutation_p.T1121I|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.T1205I NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1224.0 apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61.0 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) ACAGATGGGACACTAAAGGAA 0.443 T MLL AML Dom yes 11 11q23.3 23365.0 RHO guanine nucleotide exchange factor (GEF) 12 (LARG) L 0 99.0 92.0 94.0 11 120349003.0 1919.0 4142.0 6061.0 SO:0001583 missense AF180681 CCDS41727.1, CCDS55794.1 11q23.3 2011-11-16 ENSG00000196914 ENSG00000196914 23365.0 23365.0 """Rho guanine nucleotide exchange factors""" 14193.0 protein-coding gene gene with protein product 604763.0 10681437, 9205841 Standard NM_015313 NM_001198665 Approved KIAA0382, LARG uc001pxl.2 Q9NZN5 OTTHUMG00000166143 ENST00000397843.2:c.3671C>T 11.__UNKNOWN__:g.120349003C>T ENSP00000380942:p.Thr1224Ile O15086|Q6P526 __UNKNOWN__ CCDS41727.1 . . . . . . . . . . C 14.02 2.412045 0.42817 . . ENSG00000196914 ENST00000397843;ENST00000356641;ENST00000532993 T;T;T 0.66638 -0.12;-0.22;-0.11 5.48 5.48 0.80851 . 0.267525 0.26578 N 0.023595 T 0.51873 0.1700 N 0.14661 0.345 0.09310 N 1 B;B 0.22983 0.078;0.047 B;B 0.24394 0.053;0.024 T 0.41161 -0.9524 10 0.32370 T 0.25 -2.2724 16.866 0.86029 0.0:1.0:0.0:0.0 . 1205;1224 Q9NZN5-2;Q9NZN5 .;ARHGC_HUMAN I 1224;1205;1121 ENSP00000380942:T1224I;ENSP00000349056:T1205I;ENSP00000432984:T1121I ENSP00000349056:T1205I T + 2 0 ARHGEF12 119854213 0.006000 0.16342 0.178000 0.23040 0.918000 0.54935 1.303000 0.33470 2.722000 0.93159 0.655000 0.94253 ACA ARHGEF12-001 PUTATIVE basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000388052.1 + ENST00000397843.2 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL PNPLA8 50640 broad.mit.edu 37 7 108143061 108143061 + Missense_Mutation SNP C C A TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr7:108143061C>A ENST00000453144.1 - 4.0 1474 c.932G>T c.(931-933)cGa>cTa p.R311L PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R411L|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R411L|PNPLA8_ENST00000388728.5_Missense_Mutation_p.R411L|PNPLA8_ENST00000426128.2_Missense_Mutation_p.R411L|PNPLA8_ENST00000422087.1_Missense_Mutation_p.R411L NM_001256010.1 NP_001242939.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 411.0 arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777) ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622) breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29.0 TTGTCTCAGTCGTAATAAATA 0.333 0 69.0 72.0 71.0 7 108143061.0 2203.0 4300.0 6503.0 SO:0001583 missense AF217519 CCDS34733.1, CCDS59075.1, CCDS59508.1 7q31 2012-07-31 ENSG00000135241 ENSG00000135241 50640.0 50640.0 """Patatin-like phospholipase domain containing""" 28900.0 protein-coding gene gene with protein product 612123.0 10744668, 10833412, 16799181, 19029121 Standard NM_015723 NM_015723 Approved IPLA2G, IPLA2-2, iPLA2gamma uc003vfj.2 Q9NP80 OTTHUMG00000154870 ENST00000453144.1:c.932G>T 7.__UNKNOWN__:g.108143061C>A ENSP00000387789:p.Arg311Leu A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79 __UNKNOWN__ CCDS59075.1 . . . . . . . . . . C 35 5.468355 0.96274 . . ENSG00000135241 ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085 T;T;T;T;T;T;T 0.18016 2.24;2.24;2.24;2.24;2.24;2.24;2.24 6.08 6.08 0.98989 . 0.000000 0.85682 D 0.000000 T 0.39835 0.1093 M 0.76002 2.32 0.80722 D 1 D 0.55172 0.97 P 0.54664 0.758 T 0.08146 -1.0736 10 0.72032 D 0.01 . 20.6721 0.99693 0.0:1.0:0.0:0.0 . 411 Q9NP80 PLPL8_HUMAN L 411;411;411;411;311;411;311 ENSP00000394988:R411L;ENSP00000257694:R411L;ENSP00000373380:R411L;ENSP00000410804:R411L;ENSP00000387789:R311L;ENSP00000406779:R411L;ENSP00000402274:R311L ENSP00000257694:R411L R - 2 0 PNPLA8 107930297 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 6.054000 0.71096 2.894000 0.99253 0.591000 0.81541 CGA PNPLA8-004 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000337477.2 - ENST00000453144.1 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL MARCH7 64844 broad.mit.edu 37 2 160604779 160604779 + Silent SNP C C T TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr2:160604779C>T ENST00000409591.1 + 4.0 943 c.864C>T c.(862-864)tcC>tcT p.S288S MARCH7_ENST00000409175.1_Silent_p.S326S|MARCH7_ENST00000539065.1_Silent_p.S270S|MARCH7_ENST00000259050.4_Silent_p.S326S Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 326.0 Ser-rich. protein ubiquitination (GO:0016567) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18.0 CTTCACAGTCCCGTAGTAATG 0.403 0 53.0 56.0 55.0 2 160604779.0 2202.0 4300.0 6502.0 SO:0001819 synonymous_variant AK022973 CCDS2210.1, CCDS63038.1, CCDS63039.1 2q24.2 2013-01-09 2012-02-23 2005-01-27 ENSG00000136536 ENSG00000136536 64844.0 64844.0 """MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers""" 17393.0 protein-coding gene gene with protein product 613334.0 """axotrophin"", ""membrane-associated ring finger (C3HC4) 7""" AXOT 14722266 Standard NM_022826 XM_005246773 Approved MARCH-VII, RNF177 uc002uax.3 Q9H992 OTTHUMG00000132029 ENST00000409591.1:c.864C>T 2.__UNKNOWN__:g.160604779C>T A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9 __UNKNOWN__ MARCH7-003 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000333702.1 + ENST00000409591.1 Silent SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL METTL1 4234 broad.mit.edu 37 12 58163425 58163425 + Missense_Mutation SNP A A C TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr12:58163425A>C ENST00000324871.7 - 4.0 1205 c.496T>G c.(496-498)Ttc>Gtc p.F166V METTL1_ENST00000257848.7_Missense_Mutation_p.F104C NM_005371.5 NP_005362.3 methyltransferase like 1 large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4.0 all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.211) GTCCGCTTGAAATGTGGGTCG 0.547 0 168.0 153.0 158.0 12 58163425.0 2203.0 4300.0 6503.0 SO:0001583 missense BC000550, BQ651940, Y18643 CCDS8955.3, CCDS8956.1 12q13 2012-06-12 2005-03-01 ENSG00000037897 ENSG00000037897 4234.0 4234.0 2.1.1.33 7030.0 protein-coding gene gene with protein product 604466.0 """methyltransferase-like 1""" C12orf1 10329009, 15861136 Standard NM_005371 NM_005371 Approved TRM8, TRMT8 uc010ssd.2 Q9UBP6 OTTHUMG00000150143 ENST00000324871.7:c.496T>G 12.__UNKNOWN__:g.58163425A>C ENSP00000314441:p.Phe166Val __UNKNOWN__ CCDS8955.3 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 26.0|26.0 4.695902|4.695902 0.88830|0.88830 .|. .|. ENSG00000037897|ENSG00000037897 ENST00000257848;ENST00000547653|ENST00000324871 .|T .|0.42513 .|0.97 5.71|5.71 5.71|5.71 0.89125|0.89125 .|. 0.051811|0.051811 0.85682|0.85682 D|D 0.000000|0.000000 T|T 0.76428|0.76428 0.3986|0.3986 H|H 0.97340|0.97340 3.985|3.985 0.37676|0.37676 D|D 0.923321|0.923321 D|D 0.60575|0.59357 0.988|0.985 P|D 0.56514|0.71414 0.8|0.973 D|D 0.86854|0.86854 0.2025|0.2025 9|10 0.87932|0.72032 D|D 0|0.01 -15.0823|-15.0823 14.9401|14.9401 0.70986|0.70986 1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0 .|. 104|166 Q53FS9|Q9UBP6 .|TRMB_HUMAN C|V 104;5|166 .|ENSP00000314441:F166V ENSP00000257848:F104C|ENSP00000314441:F166V F|F -|- 2|1 0|0 METTL1|METTL1 56449692|56449692 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.997000|0.997000 0.91878|0.91878 8.781000|8.781000 0.91805|0.91805 2.172000|2.172000 0.68678|0.68678 0.533000|0.533000 0.62120|0.62120 TTT|TTC METTL1-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316528.3 - ENST00000324871.7 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL GCSAML 148823 broad.mit.edu 37 1 247737617 247737617 + Missense_Mutation SNP G G T TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr1:247737617G>T ENST00000366488.4 + 5.0 445 c.341G>T c.(340-342)aGg>aTg p.R114M GCSAML_ENST00000527084.1_Missense_Mutation_p.R82M|GCSAML_ENST00000463359.1_Missense_Mutation_p.R82M|GCSAML_ENST00000366489.1_Missense_Mutation_p.R94M|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000527541.1_Missense_Mutation_p.R82M|GCSAML_ENST00000536561.1_Missense_Mutation_p.R94M|GCSAML_ENST00000366491.2_Missense_Mutation_p.R94M|RP11-978I15.10_ENST00000435333.1_RNA NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3 NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1 Q5JQS6 GSAML_HUMAN germinal center-associated, signaling and motility-like 114.0 GCCCTTCTTAGGACTTCTGTT 0.438 0 153.0 128.0 137.0 1 247737617.0 2203.0 4300.0 6503.0 SO:0001583 missense AK126682 CCDS1635.1, CCDS60470.1, CCDS73058.1 1q44 2012-08-23 2012-08-23 2012-08-23 ENSG00000169224 ENSG00000169224 148823.0 148823.0 29583.0 protein-coding gene gene with protein product """chromosome 1 open reading frame 150""" C1orf150 Standard NM_145278 NM_001281834 Approved FLJ44728 uc001idf.3 Q5JQS6 OTTHUMG00000040648 ENST00000366488.4:c.341G>T 1.__UNKNOWN__:g.247737617G>T ENSP00000355444:p.Arg114Met B2R4Y5|B3KX46|Q5JQT3 __UNKNOWN__ CCDS1635.1 . . . . . . . . . . G 13.02 2.110907 0.37242 . . ENSG00000169224 ENST00000527084;ENST00000527541;ENST00000366491;ENST00000366489;ENST00000463359;ENST00000366488;ENST00000536561 . . . 3.91 0.961 0.19638 . 0.322809 0.22380 N 0.060830 T 0.50939 0.1645 L 0.58101 1.795 0.09310 N 1 D 0.76494 0.999 D 0.63703 0.917 T 0.37641 -0.9697 9 0.72032 D 0.01 -3.8815 6.4156 0.21715 0.324:0.0:0.676:0.0 . 114 Q5JQS6 CA150_HUMAN M 82;82;94;94;82;114;94 . ENSP00000355444:R114M R + 2 0 C1orf150 245804240 0.021000 0.18746 0.030000 0.17652 0.606000 0.37113 -0.065000 0.11617 0.106000 0.17784 -0.194000 0.12790 AGG GCSAML-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097745.4 + ENST00000366488.4 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL POLE 5426 broad.mit.edu 37 12 133225531 133225531 + Missense_Mutation SNP C C T TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr12:133225531C>T ENST00000320574.5 - 32.0 4176 c.4133G>A c.(4132-4134)gGt>gAt p.G1378D POLE_ENST00000535270.1_Missense_Mutation_p.G1351D NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1378.0 base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283) cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) 4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270) 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) 89.0 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) Cladribine(DB00242) ATACGAAGCACCCTCCTCCGC 0.607 DNA polymerases (catalytic subunits) 0 141.0 97.0 112.0 12 133225531.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS9278.1 12q24.3 2014-09-17 2012-05-18 ENSG00000177084 ENSG00000177084 5426.0 5426.0 """DNA polymerases""" 9177.0 protein-coding gene gene with protein product """DNA polymerase epsilon catalytic subunit A""" 174762.0 """polymerase (DNA directed), epsilon""" 8020968 Standard NM_006231 NM_006231 Approved POLE1 uc001uks.1 Q07864 OTTHUMG00000168045 ENST00000320574.5:c.4133G>A 12.__UNKNOWN__:g.133225531C>T ENSP00000322570:p.Gly1378Asp Q13533|Q86VH9 __UNKNOWN__ CCDS9278.1 . . . . . . . . . . C 12.21 1.868598 0.32977 . . ENSG00000177084 ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006 T;T;T;T 0.16743 2.32;2.32;2.32;2.51 5.55 5.55 0.83447 . 0.048502 0.85682 D 0.000000 T 0.23611 0.0571 L 0.60067 1.865 0.58432 D 0.999999 B;B 0.20368 0.044;0.002 B;B 0.23574 0.047;0.003 T 0.02070 -1.1219 10 0.39692 T 0.17 . 19.5576 0.95358 0.0:1.0:0.0:0.0 . 1351;1378 F5H1D6;Q07864 .;DPOE1_HUMAN D 1378;1389;1351;1158 ENSP00000322570:G1378D;ENSP00000406383:G1389D;ENSP00000445753:G1351D;ENSP00000442519:G1158D ENSP00000322570:G1378D G - 2 0 POLE 131735604 1.000000 0.71417 0.704000 0.30370 0.010000 0.07245 5.893000 0.69798 2.627000 0.88993 0.505000 0.49811 GGT POLE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000397689.2 - ENST00000320574.5 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL AKAP4 8852 broad.mit.edu 37 X 49963360 49963360 + Missense_Mutation SNP C C T TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chrX:49963360C>T ENST00000376056.2 - 2.0 194 c.44G>A c.(43-45)tGc>tAc p.C15Y AKAP4_ENST00000376064.3_Missense_Mutation_p.C15Y|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.C15Y|AKAP4_ENST00000358526.2_Missense_Mutation_p.C24Y A kinase (PRKA) anchor protein 4 NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41.0 Ovarian(276;0.236) ATCTACCTTGCACACACCCCT 0.428 0 114.0 86.0 96.0 X 49963360.0 2203.0 4300.0 6503.0 SO:0001583 missense AF072756 CCDS14329.1, CCDS14330.1 Xp11.2 2009-03-12 ENSG00000147081 ENSG00000147081 8852.0 8852.0 """A-kinase anchor proteins""" 374.0 protein-coding gene gene with protein product """A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99""" 300185.0 9822690, 9514854 Standard NM_003886 NM_003886 Approved p82, hAKAP82, AKAP82, Fsc1, HI, CT99 uc004dow.1 Q5JQC9 OTTHUMG00000021517 ENST00000376056.2:c.44G>A X.__UNKNOWN__:g.49963360C>T ENSP00000365224:p.Cys15Tyr __UNKNOWN__ CCDS14330.1 . . . . . . . . . . C 11.85 1.762925 0.31228 . . ENSG00000147081 ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865;ENST00000437370 T;T;T;T;T;T 0.36520 1.25;1.25;1.25;1.25;1.25;1.25 5.17 5.17 0.71159 . 0.000000 0.56097 D 0.000024 T 0.59851 0.2224 M 0.78801 2.425 0.27136 N 0.961784 D;D 0.71674 0.995;0.998 D;D 0.80764 0.986;0.994 T 0.57579 -0.7787 9 . . . -8.4532 13.1603 0.59540 0.0:1.0:0.0:0.0 . 24;15 Q5JQC9;A6ND82 AKAP4_HUMAN;. Y 15;15;24;15;15;15 ENSP00000365224:C15Y;ENSP00000365226:C15Y;ENSP00000351327:C24Y;ENSP00000365232:C15Y;ENSP00000402403:C15Y;ENSP00000412279:C15Y . C - 2 0 AKAP4 49850100 1.000000 0.71417 0.998000 0.56505 0.278000 0.26855 3.889000 0.56212 2.168000 0.68352 0.600000 0.82982 TGC AKAP4-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056552.1 - ENST00000376056.2 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL MAS1L 116511 broad.mit.edu 37 6 29454798 29454798 + Silent SNP G G T TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr6:29454798G>T ENST00000377127.3 - 1.0 940 c.882C>A c.(880-882)acC>acA p.T294T NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 proto-oncogene like, G protein-coupled receptor 294.0 G-protein coupled receptor signaling pathway (GO:0007186) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28.0 AATAGGAGGTGGTGACAAACA 0.483 NSCLC(153;755 1987 3859 11251 32945) 0 42.0 47.0 45.0 6 29454798.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant S78653 CCDS4661.1 6p22.1 2014-06-26 2014-06-26 ENSG00000204687 ENSG00000204687 116511.0 116511.0 """GPCR / Class A : Orphans""" 13961.0 protein-coding gene gene with protein product 607235.0 """MAS1 oncogene-like""" Standard NM_052967 NM_052967 Approved MAS-L, MRG, dJ994E9.2 uc011dlq.2 P35410 OTTHUMG00000031089 ENST00000377127.3:c.882C>A 6.__UNKNOWN__:g.29454798G>T Q5SUN5 __UNKNOWN__ CCDS4661.1 MAS1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076126.2 - ENST00000377127.3 Silent SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL SCNN1B 0 broad.mit.edu 37 16 23366679 23366679 + Silent SNP G G A TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr16:23366679G>A ENST00000568085.1 + 3.0 653 c.645G>A c.(643-645)ttG>ttA p.L215L SCNN1B_ENST00000343070.2_Silent_p.L215L|SCNN1B_ENST00000307331.5_Silent_p.L260L|SCNN1B_ENST00000568923.1_Intron P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 215.0 excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706) ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699) 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) 32.0 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) CCCAGGCATTGACAGAGTGGT 0.577 0 143.0 104.0 117.0 16 23366679.0 2197.0 4300.0 6497.0 SO:0001819 synonymous_variant X87159 CCDS10609.1 16p12.2-p12.1 2012-02-28 2012-02-28 ENSG00000168447 ENSG00000168447 6338.0 """Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels""" 10600.0 protein-coding gene gene with protein product """Liddle syndrome""" 600760.0 """sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta""" Standard NM_000336 Approved ENaCbeta uc002dln.3 P51168 OTTHUMG00000131608 ENST00000568085.1:c.645G>A 16.__UNKNOWN__:g.23366679G>A C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5 __UNKNOWN__ SCNN1B-006 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000434812.1 + ENST00000568085.1 Silent SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL OR4K1 79544 broad.mit.edu 37 14 20404202 20404202 + Missense_Mutation SNP T T C TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr14:20404202T>C ENST00000285600.4 + 1.0 436 c.377T>C c.(376-378)aTa>aCa p.I126T NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 126.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43.0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TTTATAGCCATATGTAAGCCT 0.448 0 135.0 129.0 131.0 14 20404202.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS32025.1 14q11.2 2013-09-23 ENSG00000155249 ENSG00000155249 79544.0 79544.0 """GPCR / Class A : Olfactory receptors""" 14726.0 protein-coding gene gene with protein product Standard NM_001004063 Approved uc001vwj.2 Q8NGD4 OTTHUMG00000170633 ENST00000285600.4:c.377T>C 14.__UNKNOWN__:g.20404202T>C ENSP00000285600:p.Ile126Thr B9EKV9|Q8NGD6|Q96R73 __UNKNOWN__ CCDS32025.1 . . . . . . . . . . . 17.52 3.408920 0.62399 . . ENSG00000155249 ENST00000285600 T 0.59224 0.28 4.94 4.94 0.65067 GPCR, rhodopsin-like superfamily (1); 0.000000 0.64402 D 0.000009 D 0.82632 0.5079 H 0.96861 3.895 0.42982 D 0.994463 D 0.76494 0.999 D 0.72982 0.979 D 0.88178 0.2869 10 0.87932 D 0 . 12.5899 0.56437 0.0:0.0:0.0:1.0 . 126 Q8NGD4 OR4K1_HUMAN T 126 ENSP00000285600:I126T ENSP00000285600:I126T I + 2 0 OR4K1 19474042 1.000000 0.71417 0.889000 0.34880 0.743000 0.42351 7.091000 0.76923 2.066000 0.61787 0.533000 0.62120 ATA OR4K1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000409881.1 + ENST00000285600.4 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL SBF1 6305 broad.mit.edu 37 22 50903079 50903079 + Missense_Mutation SNP C C A TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr22:50903079C>A ENST00000380817.3 - 14.0 1703 c.1520G>T c.(1519-1521)cGg>cTg p.R507L SBF1_ENST00000390679.3_Missense_Mutation_p.R507L|SBF1_ENST00000348911.6_Missense_Mutation_p.R508L NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 507.0 cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283) integral component of membrane (GO:0016021)|nucleus (GO:0005634) protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43.0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CTCATCCAGCCGGGGGAAGGG 0.682 0 55.0 61.0 59.0 22 50903079.0 1987.0 4155.0 6142.0 SO:0001583 missense U93181 CCDS14091.1, CCDS14091.2 22q13.33 2013-01-10 ENSG00000100241 ENSG00000100241 6305.0 6305.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing""" 10542.0 protein-coding gene gene with protein product """myotubularin related 5"", ""DENN/MADD domain containing 7A""" 603560.0 9537414, 9736772 Standard NM_002972 Approved MTMR5, DENND7A uc003blh.3 O95248 OTTHUMG00000150204 ENST00000380817.3:c.1520G>T 22.__UNKNOWN__:g.50903079C>A ENSP00000370196:p.Arg507Leu A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8 __UNKNOWN__ CCDS14091.2 . . . . . . . . . . C 12.00 1.805398 0.31961 . . ENSG00000100241 ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679 D;D;D 0.86097 -2.07;-2.07;-2.07 4.32 3.3 0.37823 . 0.363029 0.25762 N 0.028476 T 0.68933 0.3055 N 0.12182 0.205 0.26811 N 0.968993 B;B;B 0.12013 0.001;0.005;0.002 B;B;B 0.14578 0.003;0.011;0.003 T 0.56475 -0.7973 10 0.30078 T 0.28 . 7.17 0.25712 0.1682:0.7429:0.0:0.089 . 507;508;507 O95248;G5E933;O95248-4 MTMR5_HUMAN;.;. L 507;508;518;517;507 ENSP00000370196:R507L;ENSP00000252027:R508L;ENSP00000375097:R507L ENSP00000336522:R517L R - 2 0 SBF1 49249945 0.001000 0.12720 1.000000 0.80357 0.786000 0.44442 0.653000 0.24902 1.034000 0.39945 0.313000 0.20887 CGG SBF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316819.2 - ENST00000380817.3 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL DCAF4L2 138009 broad.mit.edu 37 8 88886083 88886083 + Silent SNP G G A TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr8:88886083G>A ENST00000319675.3 - 1.0 213 c.117C>T c.(115-117)ttC>ttT p.F39F NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 39.0 p.F39F(2) 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) 83.0 AATAGTTGGCGAATCTGAGGA 0.522 2 Substitution - coding silent(2) large_intestine(2) 90.0 81.0 84.0 8 88886083.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AL833507 CCDS6245.1 8q21.3 2013-01-09 2009-07-17 2009-07-17 ENSG00000176566 138009.0 138009.0 """WD repeat domain containing""" 26657.0 protein-coding gene gene with protein product """WD repeat domain 21C""" WDR21C 14702039 Standard NM_152418 NM_152418 Approved uc003ydz.3 Q8NA75 ENST00000319675.3:c.117C>T 8.__UNKNOWN__:g.88886083G>A __UNKNOWN__ CCDS6245.1 DCAF4L2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000375302.1 - ENST00000319675.3 Silent SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL PGLYRP2 114770 broad.mit.edu 37 19 15582761 15582761 + Missense_Mutation SNP T T C TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr19:15582761T>C ENST00000340880.4 - 3.0 1763 c.1283A>G c.(1282-1284)aAc>aGc p.N428S PGLYRP2_ENST00000292609.4_Missense_Mutation_p.N428S NM_052890.3 NP_443122.3 Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 428.0 defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727) extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020) N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28.0 GGAGCGCATGTTGGCTGCGCA 0.677 0 60.0 50.0 54.0 19 15582761.0 2203.0 4300.0 6503.0 SO:0001583 missense AY358156 CCDS12330.2 19p13.12 2010-04-27 ENSG00000161031 ENSG00000161031 114770.0 114770.0 3.5.1.28 30013.0 protein-coding gene gene with protein product """peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase""" 608199.0 11461926, 12669421, 14506276 Standard NM_052890 NM_052890 Approved PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL uc002nbf.4 Q96PD5 OTTHUMG00000150690 ENST00000340880.4:c.1283A>G 19.__UNKNOWN__:g.15582761T>C ENSP00000345968:p.Asn428Ser A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60 __UNKNOWN__ CCDS12330.2 . . . . . . . . . . T 14.60 2.584867 0.46110 . . ENSG00000161031 ENST00000340880;ENST00000292609 T;T 0.13778 2.56;2.56 4.62 2.51 0.30379 Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4); 0.284770 0.37857 N 0.001914 T 0.09113 0.0225 L 0.28115 0.83 0.25133 N 0.990552 B;B 0.25007 0.027;0.116 B;B 0.25759 0.024;0.063 T 0.25328 -1.0135 10 0.44086 T 0.13 -12.6412 7.2827 0.26320 0.0:0.1914:0.0:0.8086 . 428;428 Q96PD5-2;Q96PD5 .;PGRP2_HUMAN S 428 ENSP00000345968:N428S;ENSP00000292609:N428S ENSP00000292609:N428S N - 2 0 PGLYRP2 15443761 0.992000 0.36948 0.944000 0.38274 0.699000 0.40488 2.224000 0.42945 0.167000 0.19631 -0.379000 0.06801 AAC PGLYRP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000319626.1 - ENST00000340880.4 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL SLC9A4 389015 broad.mit.edu 37 2 103120167 103120167 + Splice_Site SNP G G A TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr2:103120167G>A ENST00000295269.4 + 3.0 1437 c.e3+1 NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) sodium:proton antiporter activity (GO:0015385) p.?(1) 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) 43.0 GCATCCTGGCGTGAGTACAAA 0.433 1 Unknown(1) kidney(1) 102.0 100.0 100.0 2 103120167.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant CCDS33264.1 2q12.1 2013-05-22 2012-03-22 ENSG00000180251 ENSG00000180251 389015.0 389015.0 """Solute carriers""" 11077.0 protein-coding gene gene with protein product 600531.0 """solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4""" 8199403 Standard NM_001011552.3 NM_001011552 Approved NHE4 uc002tbz.4 Q6AI14 OTTHUMG00000153093 ENST00000295269.4:c.980+1G>A 2.__UNKNOWN__:g.103120167G>A Q69YK0 __UNKNOWN__ CCDS33264.1 . . . . . . . . . . G 24.2 4.510328 0.85389 . . ENSG00000180251 ENST00000295269 . . . 5.61 5.61 0.85477 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 20.0018 0.97417 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . SLC9A4 102486599 1.000000 0.71417 1.000000 0.80357 0.967000 0.64934 9.813000 0.99286 2.793000 0.96121 0.655000 0.94253 . SLC9A4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000329498.1 Intron + ENST00000295269.4 Splice_Site SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL GRIA2 2891 broad.mit.edu 37 4 158255181 158255181 + Missense_Mutation SNP T T C TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr4:158255181T>C ENST00000296526.7 + 9.0 1500 c.1175T>C c.(1174-1176)gTg>gCg p.V392A GRIA2_ENST00000507898.1_Missense_Mutation_p.V345A|GRIA2_ENST00000449365.1_Missense_Mutation_p.V345A|GRIA2_ENST00000264426.9_Missense_Mutation_p.V392A|GRIA2_ENST00000393815.2_Missense_Mutation_p.V345A NM_000826.3 NP_000817 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 392.0 ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249) alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021) alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970) NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79.0 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599) TGGAGTGAAGTGGACAAAATG 0.398 0 149.0 138.0 142.0 4 158255181.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS3797.1, CCDS43274.1, CCDS43275.1 4q32.1 2012-08-29 ENSG00000120251 ENSG00000120251 2891.0 2891.0 """Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors""" 4572.0 protein-coding gene gene with protein product 138247.0 GLUR2 1311100 Standard NM_001083619 Approved GluA2, GLURB uc003ipl.4 P42262 OTTHUMG00000133836 ENST00000296526.7:c.1175T>C 4.__UNKNOWN__:g.158255181T>C ENSP00000296526:p.Val392Ala A8MT92|I6L997|Q96FP6 __UNKNOWN__ CCDS3797.1 . . . . . . . . . . T 10.32 1.318713 0.23994 . . ENSG00000120251 ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365 T;T;T;T;T 0.12147 2.71;2.71;2.76;2.76;2.71 5.5 5.5 0.81552 . 0.120060 0.56097 D 0.000032 T 0.08358 0.0208 N 0.11255 0.115 0.58432 D 0.999998 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.04013 0.0;0.0;0.001 T 0.30297 -0.9983 10 0.15952 T 0.53 . 15.8958 0.79333 0.0:0.0:0.0:1.0 . 392;392;345 P42262;P42262-2;A8MT92 GRIA2_HUMAN;.;. A 345;345;392;392;345 ENSP00000426845:V345A;ENSP00000377403:V345A;ENSP00000296526:V392A;ENSP00000264426:V392A;ENSP00000389837:V345A ENSP00000264426:V392A V + 2 0 GRIA2 158474631 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 4.162000 0.58177 2.209000 0.71365 0.482000 0.46254 GTG GRIA2-001 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000258366.2 + ENST00000296526.7 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL KIAA1033 23325 broad.mit.edu 37 12 105540917 105540917 + Missense_Mutation SNP A A G TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr12:105540917A>G ENST00000332180.5 + 24.0 2594 c.2507A>G c.(2506-2508)aAt>aGt p.N836S NM_015275.1 NP_056090.1 KIAA1033 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) 41.0 GGAATTATGAATACAACTGTA 0.353 0 68.0 63.0 65.0 12 105540917.0 1823.0 4075.0 5898.0 SO:0001583 missense AB028956 CCDS41826.1, CCDS73514.1 12q24.11 2014-05-09 ENSG00000136051 23325.0 23325.0 29174.0 protein-coding gene gene with protein product 615748.0 20376207, 20498093, 21498477 Standard NM_015275 XM_005268742 Approved SWIP uc001tld.3 Q2M389 ENST00000332180.5:c.2507A>G 12.__UNKNOWN__:g.105540917A>G ENSP00000328062:p.Asn836Ser __UNKNOWN__ CCDS41826.1 . . . . . . . . . . A 14.50 2.555297 0.45487 . . ENSG00000136051 ENST00000332180 T 0.52526 0.66 5.68 4.52 0.55395 . 0.039324 0.85682 D 0.000000 T 0.38374 0.1038 L 0.41961 1.31 0.58432 D 0.999999 B;P 0.42556 0.241;0.783 B;B 0.39771 0.138;0.309 T 0.27088 -1.0084 10 0.62326 D 0.03 . 7.673 0.28470 0.7881:0.1419:0.0699:0.0 . 837;836 B7ZKT9;Q2M389 .;WASH7_HUMAN S 836 ENSP00000328062:N836S ENSP00000328062:N836S N + 2 0 KIAA1033 104065047 1.000000 0.71417 1.000000 0.80357 0.561000 0.35649 7.524000 0.81866 1.071000 0.40834 -0.438000 0.05819 AAT KIAA1033-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406138.4 + ENST00000332180.5 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL C2CD3 26005 broad.mit.edu 37 11 73760382 73760382 + Splice_Site SNP C C A TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr11:73760382C>A ENST00000313663.7 - 27.0 5587 c.5361G>T c.(5359-5361)ctG>ctT p.L1787L C2CD3_ENST00000334126.7_Splice_Site_p.L1787L NM_015531.4 NP_056346.3 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1787.0 brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589) centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064) 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) 64.0 Breast(11;4.16e-06) CCATACATACCAGTGATTTTG 0.438 0 181.0 138.0 153.0 11 73760382.0 2200.0 4293.0 6493.0 SO:0001630 splice_region_variant BC035599 CCDS31636.1, CCDS66167.1 11q13.4 2014-02-12 2007-10-17 ENSG00000168014 ENSG00000168014 26005.0 26005.0 24564.0 protein-coding gene gene with protein product 615944.0 Standard NM_015531 XM_005273897 Approved DKFZP586P0123 uc001ouu.2 Q4AC94 OTTHUMG00000168110 ENST00000313663.7:c.5361+1G>T 11.__UNKNOWN__:g.73760382C>A C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2 __UNKNOWN__ CCDS31636.1 . . . . . . . . . . C 4.895 0.166419 0.09339 . . ENSG00000168014 ENST00000538361 . . . 5.83 3.87 0.44632 . . . . . T 0.48874 0.1524 . . . 0.80722 D 1 . . . . . . T 0.42189 -0.9466 4 . . . -1.7467 4.9681 0.14100 0.0:0.6393:0.2017:0.159 . . . . Y 21 . . D - 1 0 C2CD3 73438030 1.000000 0.71417 1.000000 0.80357 0.179000 0.23085 0.725000 0.25970 2.756000 0.94617 0.655000 0.94253 GAT C2CD3-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000398210.1 Silent - ENST00000313663.7 Splice_Site SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL SGOL1 151648 broad.mit.edu 37 3 20215850 20215850 + Missense_Mutation SNP A A T TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr3:20215850A>T ENST00000412997.1 - 6.0 1524 c.1173T>A c.(1171-1173)aaT>aaA p.N391K SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000412868.1_Missense_Mutation_p.N391K|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000263753.4_Missense_Mutation_p.N391K|SGOL1_ENST00000421451.1_Missense_Mutation_p.N391K NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 391.0 attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067) centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922) kinase binding (GO:0019900) kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14.0 TGCTCGTGGGATTCTGAATGT 0.443 0 149.0 145.0 146.0 3 20215850.0 2203.0 4300.0 6503.0 SO:0001583 missense BC001339 CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1 3p24.3 2005-07-27 ENSG00000129810 ENSG00000129810 151648.0 151648.0 25088.0 protein-coding gene gene with protein product 609168.0 12747765 Standard NM_138484 NM_001199251 Approved NY-BR-85 uc003cbu.3 Q5FBB7 OTTHUMG00000130479 ENST00000412997.1:c.1173T>A 3.__UNKNOWN__:g.20215850A>T ENSP00000410458:p.Asn391Lys Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275 __UNKNOWN__ CCDS46773.1 . . . . . . . . . . A 3.287 -0.145726 0.06627 . . ENSG00000129810 ENST00000263753;ENST00000421451;ENST00000412997;ENST00000412868 T;T;T;T 0.28255 1.62;1.62;1.64;1.64 5.61 1.19 0.21007 . 1.432790 0.03697 N 0.248041 T 0.17746 0.0426 N 0.22421 0.69 0.09310 N 0.999999 B;B 0.30763 0.294;0.294 B;B 0.24974 0.057;0.057 T 0.12889 -1.0530 10 0.25106 T 0.35 . 1.2845 0.02048 0.5292:0.1443:0.187:0.1395 . 391;391 B5BUA4;Q5FBB7 .;SGOL1_HUMAN K 391 ENSP00000263753:N391K;ENSP00000414129:N391K;ENSP00000410458:N391K;ENSP00000406880:N391K ENSP00000263753:N391K N - 3 2 SGOL1 20190854 0.006000 0.16342 0.001000 0.08648 0.035000 0.12851 1.205000 0.32308 -0.030000 0.13804 0.459000 0.35465 AAT SGOL1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340012.2 - ENST00000412997.1 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL RC3H1 149041 broad.mit.edu 37 1 173950089 173950089 + Missense_Mutation SNP T T C TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr1:173950089T>C ENST00000367696.2 - 6.0 1178 c.827A>G c.(826-828)tAt>tGt p.Y276C RC3H1_ENST00000367694.2_Missense_Mutation_p.Y276C|RC3H1_ENST00000258349.4_Missense_Mutation_p.Y276C Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 276.0 B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470) cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494) mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) 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) 50.0 CAGAGCTTCATAGGTTCTAAA 0.418 0 109.0 103.0 105.0 1 173950089.0 2203.0 4300.0 6503.0 SO:0001583 missense AK093501 CCDS30940.1, CCDS72987.1 1q25.1 2013-01-18 2010-09-15 ENSG00000135870 ENSG00000135870 149041.0 149041.0 """RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing""" 29434.0 protein-coding gene gene with protein product """KIAA2025 protein""" 609424.0 """ring finger and CCCH-type zinc finger domains 1""" 15917799 Standard NM_172071 XM_005244918 Approved KIAA2025, roquin, RP5-1198E17.5, RNF198 uc001gju.4 Q5TC82 OTTHUMG00000037275 ENST00000367696.2:c.827A>G 1.__UNKNOWN__:g.173950089T>C ENSP00000356669:p.Tyr276Cys B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1 __UNKNOWN__ CCDS30940.1 . . . . . . . . . . T 27.8 4.867022 0.91511 . . ENSG00000135870 ENST00000367696;ENST00000258349;ENST00000367694 D;D;D 0.95821 -3.82;-3.82;-3.82 5.69 5.69 0.88448 . 0.000000 0.85682 D 0.000000 D 0.97561 0.9201 M 0.76838 2.35 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.91635 0.997;0.997;0.999;0.999 D 0.98327 1.0531 10 0.87932 D 0 -11.2987 15.9528 0.79855 0.0:0.0:0.0:1.0 . 276;276;276;276 B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82 .;.;.;RC3H1_HUMAN C 276 ENSP00000356669:Y276C;ENSP00000258349:Y276C;ENSP00000356667:Y276C ENSP00000258349:Y276C Y - 2 0 RC3H1 172216712 1.000000 0.71417 0.927000 0.36925 0.970000 0.65996 7.977000 0.88081 2.159000 0.67721 0.533000 0.62120 TAT RC3H1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090733.2 - ENST00000367696.2 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL ZSCAN21 7589 broad.mit.edu 37 7 99661935 99661935 + Missense_Mutation SNP G G T TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr7:99661935G>T ENST00000292450.4 + 4.0 1281 c.1117G>T c.(1117-1119)Ggc>Tgc p.G373C ZSCAN21_ENST00000456748.2_Missense_Mutation_p.K338N|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.K338N NM_145914.2 NP_666019.1 Q9Y5A6 ZSC21_HUMAN zinc finger and SCAN domain containing 21 373.0 positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1) 21.0 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) CAGCGGGAAAGGCAGCCTCAT 0.517 0 72.0 68.0 69.0 7 99661935.0 2203.0 4300.0 6503.0 SO:0001583 missense AL136865 CCDS5681.1 7q11.1 2013-01-08 2006-10-06 2006-10-06 ENSG00000166529 ENSG00000166529 7589.0 7589.0 """-"", ""Zinc fingers, C2H2-type""" 13104.0 protein-coding gene gene with protein product 601261.0 """zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38""" ZNF38 2288909, 2014798 Standard NM_145914 NM_145914 Approved DKFZp434L134, NY-REN-21, Zipro1 uc003uso.3 Q9Y5A6 OTTHUMG00000154583 ENST00000292450.4:c.1117G>T 7.__UNKNOWN__:g.99661935G>T ENSP00000292450:p.Gly373Cys A4D2A6|D6W5T9|Q9H0B5 __UNKNOWN__ CCDS5681.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 14.38|14.38 2.517461|2.517461 0.44763|0.44763 .|. .|. ENSG00000166529|ENSG00000166529 ENST00000292450;ENST00000379635|ENST00000543588;ENST00000456748 T|T;T 0.07800|0.02236 3.16|4.38;4.38 4.52|4.52 4.52|4.52 0.55395|0.55395 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|. 0.358004|. 0.20632|. N|. 0.088576|. T|T 0.03651|0.03651 0.0104|0.0104 L|L 0.51853|0.51853 1.615|1.615 0.09310|0.09310 N|N 0.999996|0.999996 B|B 0.27229|0.21520 0.172|0.057 B|B 0.18871|0.24155 0.023|0.051 T|T 0.21008|0.21008 -1.0258|-1.0258 10|9 0.49607|0.87932 T|D 0.09|0 .|. 10.9123|10.9123 0.47116|0.47116 0.0:0.1902:0.8098:0.0|0.0:0.1902:0.8098:0.0 .|. 373|338 Q9Y5A6|G3V1M0 ZSC21_HUMAN|. C|N 373;348|338 ENSP00000292450:G373C|ENSP00000441212:K338N;ENSP00000390960:K338N ENSP00000292450:G373C|ENSP00000390960:K338N G|K +|+ 1|3 0|2 ZSCAN21|ZSCAN21 99499871|99499871 0.000000|0.000000 0.05858|0.05858 0.996000|0.996000 0.52242|0.52242 0.919000|0.919000 0.55068|0.55068 -0.050000|-0.050000 0.11904|0.11904 2.524000|2.524000 0.85096|0.85096 0.655000|0.655000 0.94253|0.94253 GGC|AAG ZSCAN21-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000336166.1 + ENST00000292450.4 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL CYTIP 9595 broad.mit.edu 37 2 158300465 158300465 + Missense_Mutation SNP G G A TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr2:158300465G>A ENST00000264192.3 - 1.0 189 c.68C>T c.(67-69)gCg>gTg p.A23V CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 23.0 regulation of cell adhesion (GO:0030155) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634) breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15.0 AGAGCTATACGCTGGCCCAGC 0.512 0 G VAL/ALA 0,4406 0,0,2203 165.0 152.0 157.0 68 4.8 0.0 2 157.0 1,8599 1.2+/-3.3 0,1,4299 no missense CYTIP NM_004288.4 64 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 possibly-damaging 23/360 158300465.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense L06633 CCDS2204.1 2q11.2 2011-09-08 2008-08-14 2008-08-19 ENSG00000115165 ENSG00000115165 9595.0 9595.0 9506.0 protein-coding gene gene with protein product """cytohesin binding protein HE"", ""cytohesin binder and regulator""" 604448.0 """pleckstrin homology, Sec7 and coiled-coil domains, binding protein""" PSCDBP 18926288, 10343115, 11867758, 20530790, 21562043 Standard NM_004288 NM_004288 Approved B3-1, HE, CYBR, CASP, CYTHIP uc002tzj.1 O60759 OTTHUMG00000154551 ENST00000264192.3:c.68C>T 2.__UNKNOWN__:g.158300465G>A ENSP00000264192:p.Ala23Val B4DWH9|Q15630|Q8NE32 __UNKNOWN__ CCDS2204.1 . . . . . . . . . . G 10.64 1.408227 0.25378 0.0 1.16E-4 ENSG00000115165 ENST00000264192 T 0.22134 1.97 5.72 4.84 0.62591 . 0.452988 0.21575 N 0.072345 T 0.12732 0.0309 L 0.27053 0.805 0.33753 D 0.620837 P 0.42161 0.772 B 0.30943 0.122 T 0.19321 -1.0309 10 0.33940 T 0.23 -3.0089 12.7687 0.57408 0.0:0.1645:0.8355:0.0 . 23 O60759 CYTIP_HUMAN V 23 ENSP00000264192:A23V ENSP00000264192:A23V A - 2 0 CYTIP 158008711 0.000000 0.05858 0.002000 0.10522 0.023000 0.10783 0.125000 0.15749 1.399000 0.46721 0.655000 0.94253 GCG CYTIP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254926.1 - ENST00000264192.3 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL VAMP3 9341 broad.mit.edu 37 1 7837366 7837366 + Nonsense_Mutation SNP G G A TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr1:7837366G>A ENST00000470357.1 + 3.0 709 c.135G>A c.(133-135)tgG>tgA p.W45* VAMP3_ENST00000054666.6_Nonsense_Mutation_p.W73* Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 73.0 v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}. calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192) apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6.0 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) AATATTGGTGGAAGAATTGCA 0.448 0 86.0 84.0 85.0 1 7837366.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained BC003570 CCDS88.1 1p36.23 2013-02-13 2012-10-17 ENSG00000049245 ENSG00000049245 9341.0 9341.0 """Vesicle-associated membrane proteins""" 12644.0 protein-coding gene gene with protein product """cellubrevin""" 603657.0 9885218 Standard NM_004781 NM_004781 Approved CEB uc001aol.3 Q15836 OTTHUMG00000001225 ENST00000470357.1:c.135G>A 1.__UNKNOWN__:g.7837366G>A ENSP00000465820:p.Trp45* Q9BRV4 __UNKNOWN__ . . . . . . . . . . G 38 6.794772 0.97845 . . ENSG00000049245 ENST00000054666 . . . 6.17 6.17 0.99709 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -11.1432 20.8794 0.99867 0.0:0.0:1.0:0.0 . . . . X 73 . ENSP00000054666:W73X W + 3 0 VAMP3 7759953 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 9.760000 0.98935 2.941000 0.99782 0.655000 0.94253 TGG VAMP3-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000003626.2 + ENST00000470357.1 Nonsense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL BCAR1 9564 broad.mit.edu 37 16 75263909 75263909 + Nonsense_Mutation SNP C C A TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr16:75263909C>A ENST00000162330.5 - 7.0 2239 c.2113G>T c.(2113-2115)Gaa>Taa p.E705* BCAR1_ENST00000393420.6_Nonsense_Mutation_p.E723*|BCAR1_ENST00000535626.2_Nonsense_Mutation_p.E557*|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000418647.3_Nonsense_Mutation_p.E751*|BCAR1_ENST00000542031.2_Nonsense_Mutation_p.E703*|BCAR1_ENST00000420641.3_Nonsense_Mutation_p.E723*|BCAR1_ENST00000538440.2_Nonsense_Mutation_p.E705*|BCAR1_ENST00000546196.1_Nonsense_Mutation_p.E676*|BCAR1_ENST00000393422.2_Nonsense_Mutation_p.E723* NM_001170717.1|NM_014567.3 NP_001164188.1|NP_055382.2 P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 705.0 actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010) cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726) protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871) breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35.0 BRCA - Breast invasive adenocarcinoma(221;0.169) TCCAGTCGTTCAAACTGCTTC 0.667 0 29.0 34.0 33.0 16 75263909.0 2157.0 4228.0 6385.0 SO:0001587 stop_gained AJ242987 CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1 16q22-q23 2011-04-13 ENSG00000050820 ENSG00000050820 9564.0 9564.0 """Cas scaffolding proteins""" 971.0 protein-coding gene gene with protein product """Crk-associated substrate"", ""Cas scaffolding protein family member 1""" 602941.0 8413311, 10639512 Standard NM_014567 NM_001170714 Approved P130Cas, Crkas, CAS, CASS1 uc010vnb.2 P56945 OTTHUMG00000137604 ENST00000162330.5:c.2113G>T 16.__UNKNOWN__:g.75263909C>A ENSP00000162330:p.Glu705* B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7 __UNKNOWN__ CCDS10915.1 . . . . . . . . . . C 38 7.163784 0.98107 . . ENSG00000050820 ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196 . . . 4.72 4.72 0.59763 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.38643 T 0.18 -40.4241 16.6397 0.85068 0.0:1.0:0.0:0.0 . . . . X 705;723;723;705;751;557;723;703;676 . ENSP00000162330:E705X E - 1 0 BCAR1 73821410 1.000000 0.71417 1.000000 0.80357 0.516000 0.34256 2.983000 0.49345 2.328000 0.79073 0.557000 0.71058 GAA BCAR1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000269017.1 - ENST00000162330.5 Nonsense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL POLR1B 84172 broad.mit.edu 37 2 113306903 113306903 + Missense_Mutation SNP G G T TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr2:113306903G>T ENST00000417433.2 + 3.0 414 c.384G>T c.(382-384)atG>atT p.M128I POLR1B_ENST00000409894.3_Missense_Mutation_p.M184I|POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000541869.1_Missense_Mutation_p.M222I|POLR1B_ENST00000263331.5_Missense_Mutation_p.M184I NM_001137604.1 NP_001131076.1 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 184.0 gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549) breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42.0 TGTTGATTATGCCTCGGAGAA 0.358 Ovarian(16;256 576 9537 23969 41147) 0 77.0 81.0 80.0 2 113306903.0 2202.0 4300.0 6502.0 SO:0001583 missense AK001678 CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1 2q13 2013-01-21 ENSG00000125630 ENSG00000125630 84172.0 84172.0 """RNA polymerase subunits""" 20454.0 protein-coding gene gene with protein product 602000.0 Standard NM_019014 NM_001137604 Approved Rpo1-2, FLJ21921, FLJ10816, RPA2 uc002thw.2 Q9H9Y6 OTTHUMG00000131314 ENST00000417433.2:c.384G>T 2.__UNKNOWN__:g.113306903G>T ENSP00000405358:p.Met128Ile B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3 __UNKNOWN__ CCDS46395.1 . . . . . . . . . . G 21.7 4.183546 0.78677 . . ENSG00000125630 ENST00000263331;ENST00000541869;ENST00000409894;ENST00000417433 T;T;T;T 0.75821 -0.97;-0.97;-0.97;-0.97 5.63 5.63 0.86233 RNA polymerase, beta subunit, protrusion (1); 0.035798 0.85682 D 0.000000 T 0.75598 0.3871 M 0.68952 2.095 0.80722 D 1 B;P;B;B 0.34864 0.359;0.473;0.008;0.051 B;B;B;B 0.35688 0.132;0.208;0.037;0.159 T 0.77003 -0.2749 10 0.59425 D 0.04 -21.7374 18.4811 0.90812 0.0:0.0:1.0:0.0 . 222;184;128;184 F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6 .;.;.;RPA2_HUMAN I 184;222;184;128 ENSP00000263331:M184I;ENSP00000444136:M222I;ENSP00000387143:M184I;ENSP00000405358:M128I ENSP00000263331:M184I M + 3 0 POLR1B 113023374 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.797000 0.99108 2.652000 0.90054 0.655000 0.94253 ATG POLR1B-005 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000330626.1 + ENST00000417433.2 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL ORC5 5001 broad.mit.edu 37 7 103807333 103807333 + Splice_Site SNP C C T TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr7:103807333C>T ENST00000297431.4 - 10.0 1020 c.e10-1 ORC5_ENST00000545943.1_Splice_Site NM_002553.3 NP_002544.1 O43913 ORC5_HUMAN origin recognition complex, subunit 5 DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278) cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808) ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166) kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1) 14.0 GCTGAGAGGCCTATATAACAA 0.363 0 83.0 86.0 85.0 7 103807333.0 2203.0 4299.0 6502.0 SO:0001630 splice_region_variant CCDS5734.1, CCDS47681.1 7q22.1 2014-06-13 2010-10-12 2010-10-12 ENSG00000164815 ENSG00000164815 5001.0 5001.0 8491.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 117""" 602331.0 """origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)""" ORC5L 9417919, 9829972 Standard NM_002553 NM_002553 Approved Orc5p, ORC5T, PPP1R117 uc003vcb.3 O43913 OTTHUMG00000157275 ENST00000297431.4:c.878-1G>A 7.__UNKNOWN__:g.103807333C>T A4D0P8|O60590|O95268 __UNKNOWN__ CCDS5734.1 . . . . . . . . . . C 22.7 4.327956 0.81690 . . ENSG00000164815 ENST00000297431;ENST00000545943 . . . 5.39 5.39 0.77823 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 18.7273 0.91718 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . ORC5 103594569 1.000000 0.71417 1.000000 0.80357 0.891000 0.51852 7.092000 0.76930 2.515000 0.84797 0.491000 0.48974 . ORC5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000348286.1 Intron - ENST00000297431.4 Splice_Site SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL GPR149 344758 broad.mit.edu 37 3 154055525 154055525 + Missense_Mutation SNP G G A TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr3:154055525G>A ENST00000389740.2 - 4.0 2258 c.2159C>T c.(2158-2160)gCt>gTt p.A720V NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 720.0 antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) p.A720V(1) autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47.0 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TTTTCTGTAAGCTTTATTTAA 0.433 1 Substitution - Missense(1) ovary(1) 315.0 291.0 299.0 3 154055525.0 1914.0 4119.0 6033.0 SO:0001583 missense AY255534 CCDS43162.1 3q25.2 2012-08-21 ENSG00000174948 ENSG00000174948 344758.0 344758.0 """GPCR / Class A : Orphans""" 23627.0 protein-coding gene gene with protein product 12679517 Standard XM_293580 NM_001038705 Approved PGR10, IEDA uc003faa.3 Q86SP6 OTTHUMG00000159131 ENST00000389740.2:c.2159C>T 3.__UNKNOWN__:g.154055525G>A ENSP00000374390:p.Ala720Val __UNKNOWN__ CCDS43162.1 . . . . . . . . . . G 23.9 4.468079 0.84533 . . ENSG00000174948 ENST00000389740 . . . 5.8 4.93 0.64822 . 0.000000 0.85682 D 0.000000 T 0.49029 0.1533 N 0.24115 0.695 0.58432 D 0.999994 D 0.56521 0.976 P 0.50192 0.634 T 0.55412 -0.8145 9 0.87932 D 0 -11.7316 14.7238 0.69329 0.0692:0.0:0.9308:0.0 . 720 Q86SP6 GP149_HUMAN V 720 . ENSP00000374390:A720V A - 2 0 GPR149 155538219 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.433000 0.66520 1.456000 0.47831 0.650000 0.86243 GCT GPR149-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353430.1 - ENST00000389740.2 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL NYNRIN 57523 broad.mit.edu 37 14 24879189 24879189 + Missense_Mutation SNP C C T TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr14:24879189C>T ENST00000382554.3 + 4.0 2507 c.2189C>T c.(2188-2190)aCc>aTc p.T730I NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 730.0 DNA integration (GO:0015074) integral component of membrane (GO:0016021) nucleic acid binding (GO:0003676) 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) 56.0 TCCAGTGGCACCTTGGCCCTC 0.637 0 24.0 28.0 27.0 14 24879189.0 1959.0 4137.0 6096.0 SO:0001583 missense AB037726 CCDS45090.1 14q11.2 2009-10-14 2009-10-14 2009-10-14 ENSG00000205978 57523.0 57523.0 20165.0 protein-coding gene gene with protein product """Cousin of GIN1""" """KIAA1305""" KIAA1305 19561090, 17114934 Standard NM_025081 Approved FLJ11811, CGIN1 uc001wpf.4 Q9P2P1 ENST00000382554.3:c.2189C>T 14.__UNKNOWN__:g.24879189C>T ENSP00000371994:p.Thr730Ile Q6P153|Q86TR3|Q9HAC4 __UNKNOWN__ CCDS45090.1 . . . . . . . . . . C 19.33 3.806350 0.70682 . . ENSG00000205978 ENST00000382554 T 0.11821 2.74 4.48 3.57 0.40892 . . . . . T 0.15176 0.0366 L 0.27053 0.805 0.25441 N 0.988094 D 0.58620 0.983 P 0.50314 0.637 T 0.07947 -1.0746 9 0.87932 D 0 . 9.8008 0.40764 0.2056:0.7944:0.0:0.0 . 730 Q9P2P1 NYNRI_HUMAN I 730 ENSP00000371994:T730I ENSP00000371994:T730I T + 2 0 NYNRIN 23949029 0.003000 0.15002 0.884000 0.34674 0.315000 0.28087 0.299000 0.19138 1.211000 0.43351 0.655000 0.94253 ACC NYNRIN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000412939.1 + ENST00000382554.3 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL PNISR 25957 broad.mit.edu 37 6 99854007 99854007 + Missense_Mutation SNP T T G TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr6:99854007T>G ENST00000369239.5 - 8.0 1106 c.902A>C c.(901-903)gAg>gCg p.E301A PNISR_ENST00000438806.1_Missense_Mutation_p.E301A NM_032870.2 NP_116259.2 Q8TF01 PNISR_HUMAN PNN-interacting serine/arginine-rich protein 301.0 cytoplasm (GO:0005737)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24.0 ACTTGCAGCCTCAACATTTTC 0.393 0 207.0 185.0 193.0 6 99854007.0 2203.0 4300.0 6503.0 SO:0001583 missense AK027759 CCDS5043.1 6q16.3 2011-06-06 2011-06-06 2011-06-06 ENSG00000132424 ENSG00000132424 25957.0 25957.0 21222.0 protein-coding gene gene with protein product """chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18""" C6orf111, SFRS18 14578391 Standard NM_032870 NM_032870 Approved FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130 uc021zdd.1 Q8TF01 OTTHUMG00000015262 ENST00000369239.5:c.902A>C 6.__UNKNOWN__:g.99854007T>G ENSP00000358242:p.Glu301Ala A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3 __UNKNOWN__ CCDS5043.1 . . . . . . . . . . T 23.9 4.469371 0.84533 . . ENSG00000132424 ENST00000369239;ENST00000438806 T;T 0.55052 0.54;0.54 5.57 5.57 0.84162 . 0.046027 0.85682 D 0.000000 T 0.47710 0.1460 L 0.46741 1.465 0.80722 D 1 D 0.60160 0.987 P 0.53954 0.738 T 0.37842 -0.9688 10 0.27785 T 0.31 . 16.0108 0.80402 0.0:0.0:0.0:1.0 . 301 Q8TF01 PNISR_HUMAN A 301 ENSP00000358242:E301A;ENSP00000387997:E301A ENSP00000358242:E301A E - 2 0 PNISR 99960728 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 6.302000 0.72788 2.242000 0.73789 0.482000 0.46254 GAG PNISR-007 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041598.1 - ENST00000369239.5 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL CDC42 998 broad.mit.edu 37 1 22405002 22405002 + Translation_Start_Site SNP G G A TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr1:22405002G>A ENST00000344548.3 + 3.0 282 c.31G>A c.(31-33)Gat>Aat p.D11N CDC42_ENST00000315554.8_Missense_Mutation_p.D11N|CDC42_ENST00000421089.2_De_novo_Start_OutOfFrame|CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000400259.1_Missense_Mutation_p.D11N NM_001039802.1 NP_001034891.1 P60953 CDC42_HUMAN cell division cycle 42 11.0 actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295) apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233) apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4) 12.0 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)|Prostate(1639;0.0792) UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207) TGTTGTGGGCGATGGTGCTGT 0.358 0 111.0 102.0 105.0 1 22405002.0 2203.0 4300.0 6503.0 SO:0001583 missense BC018266 CCDS221.1, CCDS222.1 1p36.1 2013-01-17 2013-01-17 ENSG00000070831 ENSG00000070831 998.0 998.0 1736.0 protein-coding gene gene with protein product """GTP binding protein, 25kDa""" 116952.0 """cell division cycle 42 (GTP-binding protein, 25kD)"", ""cell division cycle 42 (GTP binding protein, 25kDa)""" 2124704, 2122236 Standard NM_001791 NM_001039802 Approved G25K, CDC42Hs uc001bfr.3 P60953 OTTHUMG00000002753 ENST00000344548.3:c.31G>A 1.__UNKNOWN__:g.22405002G>A ENSP00000341072:p.Asp11Asn P21181|P25763|Q7L8R5|Q9UDI2 __UNKNOWN__ CCDS221.1 . . . . . . . . . . g 32 5.190950 0.94923 . . ENSG00000070831 ENST00000400259;ENST00000344548;ENST00000315554;ENST00000411827 T;T;T;T 0.80123 -1.34;-1.34;-1.34;-1.34 4.91 4.91 0.64330 Small GTP-binding protein domain (1); 0.123452 0.64402 D 0.000019 D 0.92580 0.7643 H 0.95712 3.71 0.80722 D 1 D;D;D 0.89917 0.999;1.0;0.999 D;D;D 0.75020 0.969;0.985;0.917 D 0.94755 0.7931 10 0.72032 D 0.01 . 16.6589 0.85236 0.0:0.0:1.0:0.0 . 11;11;11 B4E1U9;P60953;P60953-1 .;CDC42_HUMAN;. N 11 ENSP00000383118:D11N;ENSP00000341072:D11N;ENSP00000314458:D11N;ENSP00000398327:D11N ENSP00000314458:D11N D + 1 0 CDC42 22277589 1.000000 0.71417 0.998000 0.56505 0.975000 0.68041 9.123000 0.94387 2.287000 0.76781 0.650000 0.86243 GAT CDC42-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000007787.1 + ENST00000344548.3 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL TCEB3 6924 broad.mit.edu 37 1 24080933 24080933 + Missense_Mutation SNP A A T TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr1:24080933A>T ENST00000609199.1 + 7.0 1806 c.1774A>T c.(1774-1776)Ata>Tta p.I592L TCEB3_ENST00000418390.2_Missense_Mutation_p.I618L Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 618.0 Activation domain. {ECO:0000250}.|F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}. gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654) DNA binding (GO:0003677) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19.0 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) GCTGTATCGCATAGAGGAATA 0.478 0 141.0 128.0 132.0 1 24080933.0 2203.0 4300.0 6503.0 SO:0001583 missense L47345 CCDS239.2 1p36.1 2010-06-22 2002-08-29 ENSG00000011007 ENSG00000011007 6924.0 6924.0 11620.0 protein-coding gene gene with protein product 600786.0 """transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)""" 8586449, 7660129 Standard NM_003198 NM_003198 Approved SIII, TCEB3A uc001bho.3 Q14241 OTTHUMG00000002957 ENST00000609199.1:c.1774A>T 1.__UNKNOWN__:g.24080933A>T ENSP00000476781:p.Ile592Leu B2R7Q8|Q8IXH1 __UNKNOWN__ . . . . . . . . . . A 24.3 4.514675 0.85389 . . ENSG00000011007 ENST00000418390 T 0.26957 1.7 5.41 5.41 0.78517 F-box domain, cyclin-like (1); 0.185215 0.37219 N 0.002198 T 0.26376 0.0644 N 0.25890 0.77 0.80722 D 1 P 0.47604 0.898 P 0.49192 0.602 T 0.01951 -1.1241 10 0.22706 T 0.39 -9.8063 15.7353 0.77837 1.0:0.0:0.0:0.0 . 618 Q14241 ELOA1_HUMAN L 618 ENSP00000395574:I618L ENSP00000395574:I618L I + 1 0 TCEB3 23953520 1.000000 0.71417 0.942000 0.38095 0.978000 0.69477 9.307000 0.96226 2.179000 0.69175 0.379000 0.24179 ATA TCEB3-003 NOVEL basic|appris_principal protein_coding protein_coding OTTHUMT00000471733.1 + ENST00000609199.1 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL GIT2 9815 broad.mit.edu 37 12 110385263 110385263 + Missense_Mutation SNP G G C TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr12:110385263G>C ENST00000355312.3 - 15.0 1438 c.1439C>G c.(1438-1440)aCa>aGa p.T480R GIT2_ENST00000457474.2_Missense_Mutation_p.T432R|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000343646.5_Missense_Mutation_p.T400R|GIT2_ENST00000551209.1_Missense_Mutation_p.T429R|GIT2_ENST00000354574.4_Missense_Mutation_p.T432R|GIT2_ENST00000553118.1_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000360185.4_Missense_Mutation_p.T430R|GIT2_ENST00000547815.1_3'UTR|GIT2_ENST00000361006.5_Missense_Mutation_p.T480R|GIT2_ENST00000356259.4_Intron NM_057169.3 NP_476510.1 Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 480.0 behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277) focal adhesion (GO:0005925)|nucleoplasm (GO:0005654) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27.0 TACATTGGTTGTGGCCTGTTT 0.468 0 152.0 145.0 147.0 12 110385263.0 2203.0 4300.0 6503.0 SO:0001583 missense AF124491 CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1 12q24.1 2013-01-10 2008-09-05 ENSG00000139436 9815.0 9815.0 """ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing""" 4273.0 protein-coding gene gene with protein product 608564.0 """G protein-coupled receptor kinase interactor 2""" 9826657, 10896954 Standard NM_057169 NM_139201 Approved KIAA0148 uc001tps.2 Q14161 OTTHUMG00000169313 ENST00000355312.3:c.1439C>G 12.__UNKNOWN__:g.110385263G>C ENSP00000347464:p.Thr480Arg Q86U59|Q96CI2|Q9BV91|Q9Y5V2 __UNKNOWN__ CCDS9138.1 . . . . . . . . . . G 13.59 2.281740 0.40394 . . ENSG00000139436 ENST00000355312;ENST00000360185;ENST00000354574;ENST00000343646;ENST00000457474;ENST00000361006;ENST00000551209;ENST00000542273 T;T;T;T;T;T;T 0.74526 -0.62;-0.71;-0.85;-0.77;-0.81;-0.62;-0.74 5.97 5.07 0.68467 . 0.239258 0.48767 D 0.000172 T 0.69088 0.3072 L 0.57536 1.79 0.80722 D 1 P;P;B;B;P 0.39940 0.534;0.534;0.028;0.029;0.696 B;B;B;B;B 0.35813 0.142;0.211;0.024;0.01;0.189 T 0.67197 -0.5731 10 0.20046 T 0.44 . 16.3183 0.82936 0.0:0.1323:0.8676:0.0 . 432;432;480;418;480 Q14161-10;F8WAK2;Q14161;B4E027;Q14161-5 .;.;GIT2_HUMAN;.;. R 480;430;432;400;432;480;429;418 ENSP00000347464:T480R;ENSP00000353312:T430R;ENSP00000346585:T432R;ENSP00000340938:T400R;ENSP00000391813:T432R;ENSP00000354282:T480R;ENSP00000448832:T429R ENSP00000340938:T400R T - 2 0 GIT2 108869646 1.000000 0.71417 1.000000 0.80357 0.574000 0.36063 8.991000 0.93514 1.519000 0.48950 -0.310000 0.09108 ACA GIT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403407.1 - ENST00000355312.3 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL PHF15 0 broad.mit.edu 37 5 133914681 133914681 + Missense_Mutation SNP G G A TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr5:133914681G>A ENST00000402835.1 + 0.0 2313 PHF15_ENST00000361895.2_Missense_Mutation_p.E684K|PHF15_ENST00000395003.1_Missense_Mutation_p.E683K|PHF15_ENST00000282605.4_Missense_Mutation_p.E727K NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22.0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GACCCCGGACGAGGCAGCCTC 0.667 0 53.0 64.0 61.0 5 133914681.0 2202.0 4299.0 6501.0 SO:0001624 3_prime_UTR_variant ENST00000402835.1:c.*528G>A 5.__UNKNOWN__:g.133914681G>A __UNKNOWN__ . . . . . . . . . . G 7.586 0.669852 0.14776 . . ENSG00000043143 ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000395003 T;T;T 0.46819 0.86;0.89;0.89 4.89 1.8 0.24995 . 1.633890 0.03467 N 0.213030 T 0.25232 0.0613 N 0.08118 0 0.09310 N 1 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.22941 -1.0202 10 0.07325 T 0.83 . 5.9915 0.19470 0.2302:0.1369:0.6329:0.0 . 683;684;743 Q9NQC1;D3DQA3;B3KPL2 JADE2_HUMAN;.;. K 686;743;727;684;684;683 ENSP00000282605:E727K;ENSP00000354425:E684K;ENSP00000378451:E683K ENSP00000282605:E727K E + 1 0 PHF15 133942580 1.000000 0.71417 0.943000 0.38184 0.759000 0.43091 4.312000 0.59154 1.027000 0.39758 0.313000 0.20887 GAG PHF15-007 PUTATIVE alternative_5_UTR|basic|exp_conf protein_coding protein_coding OTTHUMT00000318543.1 + ENST00000402835.1 3'UTR SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL SFTPB 6439 broad.mit.edu 37 2 85892817 85892817 + Missense_Mutation SNP C C T TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr2:85892817C>T ENST00000519937.2 - 5.0 513 c.494G>A c.(493-495)cGg>cAg p.R165Q SFTPB_ENST00000342375.3_Missense_Mutation_p.R165Q|SFTPB_ENST00000393822.3_Missense_Mutation_p.R177Q|SFTPB_ENST00000409383.1_Missense_Mutation_p.R177Q P07988 PSPB_HUMAN surfactant protein B 165.0 organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665) extracellular region (GO:0005576)|lysosome (GO:0005764) p.R165Q(1) central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16.0 CAGAGGGTCCCGCAGAGGTTT 0.667 1 Substitution - Missense(1) large_intestine(1) GLN/ARG,GLN/ARG 0,4406 0,0,2203 53.0 55.0 54.0 530,530 0.2 0.0 2 54.0 1,8599 1.2+/-3.3 0,1,4299 no missense,missense SFTPB NM_000542.3,NM_198843.2 43,43 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 benign,benign 177/394,177/394 85892817.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense J02761 CCDS1983.1, CCDS1983.2 2p12-p11.2 2008-08-26 2008-08-26 ENSG00000168878 ENSG00000168878 6439.0 6439.0 10801.0 protein-coding gene gene with protein product 178640.0 """surfactant, pulmonary-associated protein B""" SFTP3 2924687, 1346779 Standard NM_198843 NM_198843 Approved SP-B uc002sqh.3 P07988 OTTHUMG00000130181 ENST00000519937.2:c.494G>A 2.__UNKNOWN__:g.85892817C>T ENSP00000428719:p.Arg165Gln Q96R04 __UNKNOWN__ . . . . . . . . . . c 1.599 -0.526996 0.04141 0.0 1.16E-4 ENSG00000168878 ENST00000519937;ENST00000393822;ENST00000342375;ENST00000409383;ENST00000441838 T;T;T;T 0.68903 0.68;-0.18;-0.36;-0.18 1.21 0.164 0.14990 . 1.074710 0.07470 N 0.902121 T 0.37865 0.1019 N 0.08118 0 0.09310 N 1 B;B 0.19817 0.0;0.039 B;B 0.06405 0.0;0.002 T 0.22347 -1.0219 10 0.13108 T 0.6 . 2.8028 0.05419 0.0:0.6223:0.0:0.3777 . 177;165 D6W5L6;P07988 .;PSPB_HUMAN Q 167;177;165;177;133 ENSP00000428719:R167Q;ENSP00000377409:R177Q;ENSP00000345161:R165Q;ENSP00000386346:R177Q ENSP00000345161:R165Q R - 2 0 SFTPB 85746328 0.000000 0.05858 0.022000 0.16811 0.044000 0.14063 -1.761000 0.01805 0.503000 0.28060 0.506000 0.49869 CGG SFTPB-001 KNOWN alternative_3_UTR|basic|appris_principal protein_coding protein_coding OTTHUMT00000252499.3 - ENST00000519937.2 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL OR51B4 79339 broad.mit.edu 37 11 5323027 5323027 + Missense_Mutation SNP A A T TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr11:5323027A>T ENST00000380224.1 - 1.0 199 c.150T>A c.(148-150)gaT>gaA p.D50E HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_033179.2 NP_149419.2 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, member 4 50.0 detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20.0 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) GGAGGCTGTGATCATTCCAAA 0.502 0 100.0 95.0 97.0 11 5323027.0 2201.0 4297.0 6498.0 SO:0001583 missense BC069094 CCDS7757.1 11p15.4 2012-08-09 ENSG00000183251 ENSG00000183251 79339.0 79339.0 """GPCR / Class A : Olfactory receptors""" 14708.0 protein-coding gene gene with protein product Standard NM_033179 NM_033179 Approved uc010qza.2 Q9Y5P0 OTTHUMG00000066665 ENST00000380224.1:c.150T>A 11.__UNKNOWN__:g.5323027A>T ENSP00000369573:p.Asp50Glu A7MAV5|Q6NTD7 __UNKNOWN__ CCDS7757.1 . . . . . . . . . . A 0.005 -2.123425 0.00346 . . ENSG00000183251 ENST00000380224 T 0.03951 3.75 4.39 0.212 0.15240 GPCR, rhodopsin-like superfamily (1); 0.120271 0.37178 N 0.002211 T 0.02571 0.0078 L 0.35542 1.07 0.09310 N 1 B 0.23735 0.09 B 0.27076 0.076 T 0.44065 -0.9352 10 0.02654 T 1 . 1.731 0.02931 0.2428:0.1402:0.4731:0.1439 . 50 Q9Y5P0 O51B4_HUMAN E 50 ENSP00000369573:D50E ENSP00000369573:D50E D - 3 2 OR51B4 5279603 0.000000 0.05858 0.006000 0.13384 0.071000 0.16799 -2.563000 0.00919 0.126000 0.18424 -0.146000 0.13790 GAT OR51B4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000142956.2 - ENST00000380224.1 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL URGCP-MRPS24 55665 broad.mit.edu 37 7 43917245 43917245 + Missense_Mutation SNP A A C TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr7:43917245A>C ENST00000603700.1 - 4.0 189 URGCP_ENST00000453200.1_Missense_Mutation_p.L606R|URGCP_ENST00000447717.3_Missense_Mutation_p.L563R|URGCP_ENST00000223341.7_Missense_Mutation_p.L563R|URGCP_ENST00000402306.3_Missense_Mutation_p.L597R|URGCP_ENST00000443736.1_Missense_Mutation_p.L563R|URGCP_ENST00000336086.6_Missense_Mutation_p.L563R|URGCP_ENST00000497914.1_5'UTR NM_001204871.1 NP_001191800.1 URGCP-MRPS24 readthrough CTCAGGCCAGAGCGGCTCCCC 0.657 0 51.0 59.0 57.0 7 43917245.0 2010.0 4160.0 6170.0 SO:0001627 intron_variant CCDS64632.1 7p13 2013-09-25 ENSG00000270617 ENSG00000270617 100534592.0 100534592.0 49188.0 other readthrough Standard NM_001204871 Approved OTTHUMG00000185136 ENST00000603700.1:c.175+4012T>G 7.__UNKNOWN__:g.43917245A>C __UNKNOWN__ . . . . . . . . . . A 6.393 0.440684 0.12104 . . ENSG00000106608 ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717 T;T;T;T;T;T 0.12255 2.71;2.71;2.71;2.71;2.7;2.71 5.79 0.488 0.16848 . 0.549649 0.18557 N 0.137727 T 0.09158 0.0226 L 0.36672 1.1 0.09310 N 1 B;B 0.18610 0.029;0.029 B;B 0.14578 0.011;0.011 T 0.23368 -1.0190 10 0.46703 T 0.11 -9.063 4.98 0.14160 0.5907:0.148:0.2613:0.0 . 597;606 Q8TCY9-2;Q8TCY9 .;URGCP_HUMAN R 563;563;597;563;606;563 ENSP00000223341:L563R;ENSP00000336872:L563R;ENSP00000384955:L597R;ENSP00000392136:L563R;ENSP00000396918:L606R;ENSP00000402803:L563R ENSP00000223341:L563R L - 2 0 URGCP 43883770 0.001000 0.12720 0.013000 0.15412 0.514000 0.34195 0.533000 0.23082 0.121000 0.18284 0.533000 0.62120 CTC URGCP-MRPS24-001 PUTATIVE basic|appris_principal|readthrough_transcript protein_coding protein_coding OTTHUMT00000469650.1 - ENST00000603700.1 Intron SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL ZFHX4 79776 broad.mit.edu 37 8 77763289 77763289 + Missense_Mutation SNP T T G TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr8:77763289T>G ENST00000521891.2 + 10.0 4580 c.4132T>G c.(4132-4134)Tta>Gta p.L1378V ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1352V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1333V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1333V NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1333.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270) 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) 432.0 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCAAGATCAATTAAATGAACA 0.413 HNSCC(33;0.089) 0 103.0 96.0 98.0 8 77763289.0 1869.0 4108.0 5977.0 SO:0001583 missense CCDS47878.1, CCDS47878.2 8q21.11 2012-07-02 2007-07-16 ENSG00000091656 ENSG00000091656 79776.0 79776.0 """Homeoboxes / ZF class""" 30939.0 protein-coding gene gene with protein product 606940.0 """zinc finger homeodomain 4""" 10873665, 11935336 Standard NM_024721 NM_024721 Approved ZFH4, FLJ20980 uc003yau.2 Q86UP3 OTTHUMG00000164557 ENST00000521891.2:c.4132T>G 8.__UNKNOWN__:g.77763289T>G ENSP00000430497:p.Leu1378Val G3V138|Q18PS0|Q6ZN20 __UNKNOWN__ CCDS47878.2 . . . . . . . . . . T 9.778 1.174524 0.21704 . . ENSG00000091656 ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282 T;T;T;T 0.51325 0.71;0.75;0.72;0.72 4.65 -5.25 0.02781 . 0.000000 0.34460 U 0.003946 T 0.59636 0.2208 M 0.68317 2.08 0.33218 D 0.554333 D;D;D 0.67145 0.993;0.996;0.996 D;D;D 0.80764 0.987;0.994;0.994 T 0.65825 -0.6074 10 0.31617 T 0.26 . 16.2638 0.82563 0.0:0.7346:0.0:0.2654 . 1333;1333;1378 Q86UP3;Q86UP3-4;G3V138 ZFHX4_HUMAN;.;. V 1378;1378;1333;1333;1352 ENSP00000430497:L1378V;ENSP00000399605:L1333V;ENSP00000050961:L1333V;ENSP00000430848:L1352V ENSP00000050961:L1333V L + 1 2 ZFHX4 77925844 0.124000 0.22315 0.013000 0.15412 0.740000 0.42216 0.060000 0.14342 -0.963000 0.03600 0.454000 0.30748 TTA ZFHX4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000379197.2 + ENST00000521891.2 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL SETBP1 26040 broad.mit.edu 37 18 42532687 42532687 + Missense_Mutation SNP A A G TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr18:42532687A>G ENST00000282030.5 + 4.0 3678 c.3382A>G c.(3382-3384)Atg>Gtg p.M1128V NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 1128.0 nucleus (GO:0005634) DNA binding (GO:0003677) NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104.0 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CCTTGGTGACATGCAGCCTTC 0.522 Schinzel-Giedion syndrome 0 110.0 89.0 96.0 18 42532687.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database SGC, Schinzel-Giedion Midface Retraction syndrome AB022660 CCDS11923.2, CCDS45859.1 18q21.1 2008-08-01 ENSG00000152217 ENSG00000152217 26040.0 26040.0 15573.0 protein-coding gene gene with protein product 611060.0 11231286 Standard NM_001130110 NM_015559 Approved SEB, KIAA0437 uc010dni.3 Q9Y6X0 OTTHUMG00000132613 ENST00000282030.5:c.3382A>G 18.__UNKNOWN__:g.42532687A>G ENSP00000282030:p.Met1128Val A6H8W5|Q6P6C3|Q9UEF3 __UNKNOWN__ CCDS11923.2 . . . . . . . . . . A 4.895 0.166281 0.09339 . . ENSG00000152217 ENST00000282030 T 0.66995 -0.24 5.88 3.35 0.38373 . 0.289185 0.39615 N 0.001307 T 0.41627 0.1167 N 0.24115 0.695 0.22199 N 0.999296 B 0.02656 0.0 B 0.04013 0.001 T 0.21793 -1.0235 10 0.06494 T 0.89 . 4.2198 0.10552 0.6746:0.1316:0.0678:0.1259 . 1128 Q9Y6X0 SETBP_HUMAN V 1128 ENSP00000282030:M1128V ENSP00000282030:M1128V M + 1 0 SETBP1 40786685 1.000000 0.71417 0.923000 0.36655 0.954000 0.61252 2.228000 0.42981 1.040000 0.40099 0.459000 0.35465 ATG SETBP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255854.4 + ENST00000282030.5 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL CBLB 868 bcgsc.ca 37 3 105400395 105400395 + Missense_Mutation SNP G G A rs34686140 TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr3:105400395G>A ENST00000264122.4 - 16.0 2677 c.2356C>T c.(2356-2358)Cgg>Tgg p.R786W CBLB_ENST00000407712.1_Intron|CBLB_ENST00000394027.3_Intron|CBLB_ENST00000405772.1_Missense_Mutation_p.R786W|CBLB_ENST00000403724.1_3'UTR NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 786.0 Pro-rich. cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) 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) 49.0 GGATTGTCCCGAGTTGGAGGC 0.423 Mis S AML GBM(93;588 1337 9788 29341 43499) Rec yes 3 3q13.11 868.0 Cas-Br-M (murine) ecotropic retroviral transforming sequence b L 0 G TRP/ARG 1,4405 2.1+/-5.4 0,1,2202 112.0 101.0 105.0 2356 5.1 1.0 3 dbSNP_126 105.0 0,8600 0,0,4300 no missense CBLB NM_170662.3 101 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 probably-damaging 786/983 105400395.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense U26710 CCDS2948.1 3q 2013-07-09 2013-07-09 ENSG00000114423 ENSG00000114423 868.0 868.0 """RING-type (C3HC4) zinc fingers""" 1542.0 protein-coding gene gene with protein product 604491 """Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b""" 7784085 Standard NM_170662 XM_005247853 Approved RNF56, Cbl-b uc003dwc.3 Q13191 OTTHUMG00000150654 ENST00000264122.4:c.2356C>T 3.__UNKNOWN__:g.105400395G>A ENSP00000264122:p.Arg786Trp A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5 __UNKNOWN__ CCDS2948.1 . . . . . . . . . . G 21.3 4.132163 0.77662 2.27E-4 0.0 ENSG00000114423 ENST00000264122;ENST00000405772 D;D 0.85339 -1.97;-1.96 5.96 5.08 0.68730 . 0.320532 0.33180 N 0.005195 T 0.81235 0.4780 L 0.56769 1.78 0.80722 D 1 B 0.06786 0.001 B 0.01281 0.0 T 0.78061 -0.2351 10 0.87932 D 0 -6.1941 8.2884 0.31943 0.077:0.0:0.6709:0.2521 rs34686140 786 Q13191 CBLB_HUMAN W 786 ENSP00000264122:R786W;ENSP00000384938:R786W ENSP00000264122:R786W R - 1 2 CBLB 106883085 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 4.610000 0.61155 1.531000 0.49152 0.585000 0.79938 CGG CBLB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000319417.2 - ENST00000264122.4 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL FERD3L 222894 bcgsc.ca 37 7 19184617 19184617 + Missense_Mutation SNP C C A TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr7:19184617C>A ENST00000275461.3 - 1.0 427 c.369G>T c.(367-369)caG>caT p.Q123H AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 123.0 bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}. cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35.0 TCCTCCGCAGCTGGTCAAAGG 0.597 0 115.0 90.0 99.0 7 19184617.0 2203.0 4300.0 6503.0 SO:0001583 missense AF369897 CCDS5368.1 7p21.3 2013-10-17 2013-10-17 ENSG00000146618 ENSG00000146618 222894.0 222894.0 """Basic helix-loop-helix proteins""" 16660.0 protein-coding gene gene with protein product """Fer3-like (Drosophila)""" 11472856, 12217327 Standard NM_152898 Approved NATO3, N-TWIST, bHLHa31 uc003suo.1 Q96RJ6 OTTHUMG00000090823 ENST00000275461.3:c.369G>T 7.__UNKNOWN__:g.19184617C>A ENSP00000275461:p.Gln123His Q495K0 __UNKNOWN__ CCDS5368.1 . . . . . . . . . . C 21.0 4.087171 0.76642 . . ENSG00000146618 ENST00000275461 D 0.98028 -4.67 5.66 4.78 0.61160 Helix-loop-helix DNA-binding (5); 0.129701 0.53938 D 0.000057 D 0.96272 0.8784 N 0.17594 0.5 0.54753 D 0.999983 P 0.41569 0.755 P 0.53450 0.726 D 0.96206 0.9149 10 0.44086 T 0.13 -2.4783 14.6343 0.68678 0.0:0.9302:0.0:0.0698 . 123 Q96RJ6 FER3L_HUMAN H 123 ENSP00000275461:Q123H ENSP00000275461:Q123H Q - 3 2 FERD3L 19151142 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 2.152000 0.42272 1.419000 0.47118 -0.145000 0.13849 CAG FERD3L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207627.1 - ENST00000275461.3 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL ADAMTS9 56999 ucsc.edu 37 3 64507882 64507882 + Missense_Mutation SNP A A T TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr3:64507882A>T ENST00000498707.1 - 39.0 6115 c.5773T>A c.(5773-5775)Tcc>Acc p.S1925T ADAMTS9_ENST00000467257.1_5'UTR|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.S1897T NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1925.0 GON. {ECO:0000255|PROSITE- ProRule:PRU00383}. glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192) endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100.0 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GTACCAGAGGATGGAGTGCAT 0.453 0 158.0 124.0 136.0 3 64507882.0 2203.0 4300.0 6503.0 SO:0001583 missense AF261918 CCDS2903.1 3p14.1 2008-05-15 2005-08-19 ENSG00000163638 ENSG00000163638 56999.0 56999.0 """ADAM metallopeptidases with thrombospondin type 1 motif""" 13202.0 protein-coding gene gene with protein product 605421 """a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9""" 10936055 Standard NM_182920 Approved KIAA1312 uc003dmg.3 Q9P2N4 OTTHUMG00000158722 ENST00000498707.1:c.5773T>A 3.__UNKNOWN__:g.64507882A>T ENSP00000418735:p.Ser1925Thr A1L4L0|B7ZVX9|B9ZVN0|Q9NR29 __UNKNOWN__ CCDS2903.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 18.09|18.09 3.546778|3.546778 0.65198|0.65198 .|. .|. ENSG00000163638|ENSG00000163638 ENST00000481060|ENST00000295903;ENST00000498707 .|T;T .|0.18338 .|2.22;2.22 5.69|5.69 5.69|5.69 0.88448|0.88448 .|Peptidase M12B, GON-ADAMTSs (2); .|0.000000 .|0.85682 .|D .|0.000000 T|T 0.31857|0.31857 0.0810|0.0810 M|M 0.61703|0.61703 1.905|1.905 0.80722|0.80722 D|D 1|1 .|P;P .|0.47677 .|0.899;0.785 .|P;P .|0.53988 .|0.739;0.739 T|T 0.01405|0.01405 -1.1363|-1.1363 5|10 .|0.35671 .|T .|0.21 .|. 14.5128|14.5128 0.67800|0.67800 1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0 .|. .|1897;1925 .|B7ZVX9;Q9P2N4 .|.;ATS9_HUMAN Q|T 980|1897;1925 .|ENSP00000295903:S1897T;ENSP00000418735:S1925T .|ENSP00000295903:S1897T H|S -|- 3|1 2|0 ADAMTS9|ADAMTS9 64482922|64482922 1.000000|1.000000 0.71417|0.71417 0.983000|0.983000 0.44433|0.44433 0.585000|0.585000 0.36419|0.36419 5.031000|5.031000 0.64134|0.64134 2.174000|2.174000 0.68829|0.68829 0.528000|0.528000 0.53228|0.53228 CAT|TCC ADAMTS9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351891.1 - ENST00000498707.1 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL ANGPTL2 23452 ucsc.edu 37 9 129870418 129870418 + Missense_Mutation SNP G G T TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr9:129870418G>T ENST00000373425.3 - 2.0 1210 c.593C>A c.(592-594)gCg>gAg p.A198E ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373436.1_Intron NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 198.0 multicellular organismal development (GO:0007275) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) receptor binding (GO:0005102) breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18.0 CTCAAGCTGCGCGATGATCTC 0.657 0 43.0 40.0 41.0 9 129870418.0 2203.0 4300.0 6503.0 SO:0001583 missense AF125175 CCDS6868.1 9q34 2013-02-06 ENSG00000136859 ENSG00000136859 23452.0 23452.0 """Fibrinogen C domain containing""" 490.0 protein-coding gene gene with protein product 605001 10473614 Standard NM_012098 NM_012098 Approved ARP2, HARP uc004bqr.1 Q9UKU9 OTTHUMG00000020695 ENST00000373425.3:c.593C>A 9.__UNKNOWN__:g.129870418G>T ENSP00000362524:p.Ala198Glu Q5JT58|Q8NCH7 __UNKNOWN__ CCDS6868.1 . . . . . . . . . . G 13.94 2.388237 0.42308 . . ENSG00000136859 ENST00000373425 T 0.38560 1.13 5.23 5.23 0.72850 . 0.279169 0.40385 N 0.001109 T 0.36936 0.0985 L 0.47716 1.5 0.80722 D 1 B 0.24186 0.099 B 0.20767 0.031 T 0.11767 -1.0574 10 0.24483 T 0.36 . 15.2182 0.73288 0.0:0.0:0.859:0.141 . 198 Q9UKU9 ANGL2_HUMAN E 198 ENSP00000362524:A198E ENSP00000362524:A198E A - 2 0 ANGPTL2 128910239 1.000000 0.71417 0.156000 0.22583 0.419000 0.31324 5.697000 0.68295 2.447000 0.82792 0.655000 0.94253 GCG ANGPTL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054129.1 - ENST00000373425.3 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL MXRA5 25878 ucsc.edu 37 X 3239395 3239395 + Nonsense_Mutation SNP G G T TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chrX:3239395G>T ENST00000217939.6 - 5.0 4485 c.4331C>A c.(4330-4332)tCa>tAa p.S1444* NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1444.0 extracellular vesicular exosome (GO:0070062) 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) 157.0 all_lung(23;0.00031)|Lung NSC(23;0.000946) TTTTATGCTTGAGAGAGTTGT 0.448 0 65.0 58.0 60.0 X 3239395.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AF245505 CCDS14124.1 Xp22.33 2013-01-29 ENSG00000101825 ENSG00000101825 25878.0 25878.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 7539.0 protein-coding gene gene with protein product """adlican""" 12101425 Standard NM_015419 NM_015419 Approved DKFZp564I1922 uc004crg.4 Q9NR99 OTTHUMG00000021083 ENST00000217939.6:c.4331C>A X.__UNKNOWN__:g.3239395G>T ENSP00000217939:p.Ser1444* Q6P1M7|Q9Y3Y8 __UNKNOWN__ CCDS14124.1 . . . . . . . . . . g 40 8.210194 0.98706 . . ENSG00000101825 ENST00000381114;ENST00000217939 . . . 3.0 -2.24 0.06909 . 3.368940 0.01447 U 0.015342 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.07813 T 0.8 . 0.842 0.01152 0.2546:0.3364:0.2372:0.1718 . . . . X 1444 . ENSP00000217939:S1444X S - 2 0 MXRA5 3249395 0.000000 0.05858 0.000000 0.03702 0.009000 0.06853 0.229000 0.17833 -0.493000 0.06678 0.423000 0.28283 TCA MXRA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055655.2 - ENST00000217939.6 Nonsense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL RALGDS 5900 unc.edu 37 9 135976954 135976954 + Missense_Mutation SNP G G C TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 Untested Somatic Phase_I WXS;RNA-Seq none Illumina HiSeq 97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde 648ded19-dc19-4eb6-9a4a-42c8617ec35a g.chr9:135976954G>C ENST00000372050.3 - 16.0 2428 c.2407C>G c.(2407-2409)Cgc>Ggc p.R803G RALGDS_ENST00000542690.1_Missense_Mutation_p.R874G|RALGDS_ENST00000393160.3_Missense_Mutation_p.R748G|RALGDS_ENST00000393157.3_Missense_Mutation_p.R802G|RALGDS_ENST00000372047.3_Missense_Mutation_p.R791G|RALGDS_ENST00000372062.3_Missense_Mutation_p.R774G|RALGDS_ENST00000469972.1_5'UTR NM_006266.2 NP_006257.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 803.0 Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}. neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056) cytosol (GO:0005829) guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083) endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10.0 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) AGGCTGACGCGGATGATACAG 0.642 T CIITA """PMBL, Hodgkin Lymphona, """ Melanoma(189;762 2088 15384 21931 52515) Dom yes 9 9q34.3 5900.0 ral guanine nucleotide dissociation stimulator L 0 98.0 101.0 100.0 9 135976954.0 2203.0 4300.0 6503.0 SO:0001583 missense AB037729 CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1 9q34.3 2009-04-08 ENSG00000160271 ENSG00000160271 5900.0 5900.0 9842.0 protein-coding gene gene with protein product 601619 7972015 Standard NM_006266 NM_006266 Approved RGF, RalGEF, RGDS uc004ccr.3 Q12967 OTTHUMG00000020858 ENST00000372050.3:c.2407C>G 9.__UNKNOWN__:g.135976954G>C ENSP00000361120:p.Arg803Gly B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8 __UNKNOWN__ CCDS6959.1 . . . . . . . . . . G 19.17 3.776380 0.70107 . . ENSG00000160271 ENST00000372050;ENST00000372047;ENST00000393160;ENST00000393157;ENST00000542690;ENST00000372062 T;T;T;T;T;T 0.25912 1.77;1.77;1.77;1.77;1.77;1.77 5.12 4.13 0.48395 Ras-association (3); 0.000000 0.64402 D 0.000002 T 0.54287 0.1849 M 0.86028 2.79 0.58432 D 0.999995 D;D;D;D;D;D;D 0.89917 1.0;0.999;1.0;0.999;0.999;0.999;1.0 D;D;D;D;D;D;D 0.97110 0.966;0.99;0.999;0.955;0.997;0.997;1.0 T 0.61983 -0.6950 10 0.87932 D 0 . 13.3443 0.60564 0.0:0.0:0.7929:0.2071 . 874;774;791;748;802;791;803 F5H6M6;E7ER93;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967 .;.;.;.;.;.;GNDS_HUMAN G 803;791;748;802;874;774 ENSP00000361120:R803G;ENSP00000361117:R791G;ENSP00000376867:R748G;ENSP00000376864:R802G;ENSP00000437518:R874G;ENSP00000361132:R774G ENSP00000361117:R791G R - 1 0 RALGDS 134966775 1.000000 0.71417 0.964000 0.40570 0.989000 0.77384 4.196000 0.58407 1.059000 0.40554 0.462000 0.41574 CGC RALGDS-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000054837.1 - ENST00000372050.3 Missense_Mutation SNP PCPG-TCGA-QR-A700-Normal-SM-5EQFL INPP5F 22876 broad.mit.edu 37 10 121565969 121565969 + Missense_Mutation SNP G G A TCGA-QR-A702-01A-11D-A35D-08 TCGA-QR-A702-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a8557fb-9487-4f47-a15b-2a2da8282092 8e591104-bd61-4595-bc0c-54a0f0368e34 g.chr10:121565969G>A ENST00000361976.2 + 12.0 1583 c.1417G>A c.(1417-1419)Gcg>Acg p.A473T NM_014937.3 NP_055752.1 Q01968 OCRL_HUMAN inositol polyphosphate-5-phosphatase F 782.0 5-phosphatase. cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365) 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) 42.0 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) AGCTGCCATCGCGAGAGTGGT 0.423 0 102.0 98.0 99.0 10 121565969.0 2203.0 4300.0 6503.0 SO:0001583 missense AB023183 CCDS7616.1, CCDS58098.1 10q26.13 2009-02-03 ENSG00000198825 ENSG00000198825 22876.0 22876.0 17054.0 protein-coding gene gene with protein product 609389.0 10231032, 11274189 Standard NM_014937 NM_014937 Approved SAC2, KIAA0966, hSac2 uc001leo.3 Q9Y2H2 OTTHUMG00000019158 ENST00000361976.2:c.1417G>A 10.__UNKNOWN__:g.121565969G>A ENSP00000354519:p.Ala473Thr A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5 __UNKNOWN__ CCDS7616.1 . . . . . . . . . . G 29.9 5.049464 0.93740 . . ENSG00000198825 ENST00000361976 T 0.30714 1.52 5.5 4.59 0.56863 Synaptojanin, N-terminal (1); 0.185845 0.47093 D 0.000242 T 0.56062 0.1960 M 0.87456 2.885 0.80722 D 1 D 0.71674 0.998 P 0.57679 0.825 T 0.67201 -0.5730 10 0.87932 D 0 -12.1223 15.6748 0.77307 0.0:0.0:0.8618:0.1382 . 473 Q9Y2H2 SAC2_HUMAN T 473 ENSP00000354519:A473T ENSP00000354519:A473T A + 1 0 INPP5F 121555959 1.000000 0.71417 0.475000 0.27278 0.935000 0.57460 7.815000 0.86186 1.307000 0.44944 -0.309000 0.09137 GCG INPP5F-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050679.1 + ENST00000361976.2 Missense_Mutation SNP PCPG-TCGA-QR-A702-Normal-SM-5EQFA EIF3B 8662 broad.mit.edu 37 7 2412395 2412395 + Missense_Mutation SNP A A G rs150678614 TCGA-QR-A702-01A-11D-A35D-08 TCGA-QR-A702-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a8557fb-9487-4f47-a15b-2a2da8282092 8e591104-bd61-4595-bc0c-54a0f0368e34 g.chr7:2412395A>G ENST00000360876.4 + 12.0 1831 c.1775A>G c.(1774-1776)tAc>tGc p.Y592C EIF3B_ENST00000397011.2_Missense_Mutation_p.Y592C NM_001037283.1 NP_001032360.1 eukaryotic translation initiation factor 3, subunit B breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24.0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) GTGTCTTTCTACCACGTCAAA 0.483 0 A CYS/TYR,CYS/TYR 1,4405 2.1+/-5.4 0,1,2202 108.0 95.0 99.0 1775,1775 5.6 1.0 7 dbSNP_134 99.0 0,8600 0,0,4300 no missense,missense EIF3B NM_001037283.1,NM_003751.3 194,194 0,1,6502 GG,GA,AA 0.0,0.0227,0.0077 probably-damaging,probably-damaging 592/815,592/815 2412395.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense U62583 CCDS5332.1 7p22 2013-02-12 2007-07-27 2007-07-27 ENSG00000106263 ENSG00000106263 8662.0 8662.0 """RNA binding motif (RRM) containing""" 3280.0 protein-coding gene gene with protein product 603917.0 """eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa""" EIF3S9 8995410 Standard NM_001037283 Approved PRT1, eIF3b uc003sly.3 P55884 OTTHUMG00000022839 ENST00000360876.4:c.1775A>G 7.__UNKNOWN__:g.2412395A>G ENSP00000354125:p.Tyr592Cys __UNKNOWN__ CCDS5332.1 . . . . . . . . . . A 24.8 4.574218 0.86542 2.27E-4 0.0 ENSG00000106263 ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558 T;T 0.06933 3.24;3.24 5.55 5.55 0.83447 Translation initiation factor 2A, beta propellor-like domain (1);Six-bladed beta-propeller, TolB-like (1); 0.000000 0.85682 D 0.000000 T 0.39200 0.1069 M 0.92077 3.27 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.52117 -0.8618 10 0.87932 D 0 -35.384 15.6886 0.77430 1.0:0.0:0.0:0.0 . 592 P55884 EIF3B_HUMAN C 592;592;592;516 ENSP00000354125:Y592C;ENSP00000380206:Y592C ENSP00000316638:Y592C Y + 2 0 EIF3B 2378921 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 9.105000 0.94246 2.110000 0.64415 0.533000 0.62120 TAC EIF3B-002 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207006.1 + ENST00000360876.4 Missense_Mutation SNP PCPG-TCGA-QR-A702-Normal-SM-5EQFA SPTB 6710 broad.mit.edu 37 14 65220494 65220494 + Silent SNP C C T TCGA-QR-A702-01A-11D-A35D-08 TCGA-QR-A702-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a8557fb-9487-4f47-a15b-2a2da8282092 8e591104-bd61-4595-bc0c-54a0f0368e34 g.chr14:65220494C>T ENST00000556626.1 - 33.0 6505 c.6363G>A c.(6361-6363)acG>acA p.T2121T SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000389722.3_Silent_p.T2121T P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 0.0 actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779) actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200) 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) 106.0 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) TCTGAGGCCACGTTCCCTCTT 0.592 0 50.0 51.0 51.0 14 65220494.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS32099.1, CCDS32100.1 14q24.1-q24.2 2013-01-10 2008-07-29 ENSG00000070182 6710.0 6710.0 """Pleckstrin homology (PH) domain containing""" 11274.0 protein-coding gene gene with protein product """spherocytosis, clinical type I""" 182870.0 2209094 Standard NM_001024858 Approved uc001xhr.3 P11277 ENST00000556626.1:c.6363G>A 14.__UNKNOWN__:g.65220494C>T Q15510|Q15519 __UNKNOWN__ CCDS32099.1 SPTB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000414076.1 - ENST00000556626.1 Silent SNP PCPG-TCGA-QR-A702-Normal-SM-5EQFA ARHGEF10L 55160 broad.mit.edu 37 1 17930054 17930054 + Missense_Mutation SNP T T G TCGA-QR-A702-01A-11D-A35D-08 TCGA-QR-A702-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a8557fb-9487-4f47-a15b-2a2da8282092 8e591104-bd61-4595-bc0c-54a0f0368e34 g.chr1:17930054T>G ENST00000375415.1 + 5.0 444 c.401T>G c.(400-402)gTc>gGc p.V134G ARHGEF10L_ENST00000375420.3_5'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V134G|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V134G|ARHGEF10L_ENST00000361221.3_Missense_Mutation_p.V134G NM_001011722.2 NP_001011722 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 134.0 cytoplasm (GO:0005737) Rho guanyl-nucleotide exchange factor activity (GO:0005089) 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) 43.0 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) TATGACGACGTCCCCTGCGAG 0.617 0 116.0 94.0 101.0 1 17930054.0 2203.0 4300.0 6503.0 SO:0001583 missense AB046846 CCDS182.1, CCDS30617.1 1p36.13 2011-11-16 ENSG00000074964 ENSG00000074964 55160.0 55160.0 """Rho guanine nucleotide exchange factors""" 25540.0 protein-coding gene gene with protein product """GrinchGEF""" 612494.0 10997877, 16112081 Standard NM_018125 XM_005245923 Approved FLJ10521, KIAA1626 uc001ban.3 Q9HCE6 OTTHUMG00000002514 ENST00000375415.1:c.401T>G 1.__UNKNOWN__:g.17930054T>G ENSP00000364564:p.Val134Gly B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3 __UNKNOWN__ CCDS30617.1 . . . . . . . . . . T 19.72 3.879999 0.72294 . . ENSG00000074964 ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415 T;T;T;T 0.78364 -0.65;-1.17;-0.82;-1.17 4.78 4.78 0.61160 . 0.000000 0.64402 D 0.000002 D 0.85609 0.5736 M 0.67397 2.05 0.80722 D 1 D;D;D;D 0.89917 1.0;0.996;1.0;1.0 D;D;D;D 0.97110 1.0;0.921;0.999;0.999 D 0.86792 0.1986 10 0.72032 D 0.01 -38.9925 11.6684 0.51387 0.0:0.0:0.0:1.0 . 134;134;134;134 Q9HCE6-5;Q9HCE6-3;Q9HCE6-2;Q9HCE6 .;.;.;ARGAL_HUMAN G 134 ENSP00000355060:V134G;ENSP00000399401:V134G;ENSP00000394621:V134G;ENSP00000364564:V134G ENSP00000355060:V134G V + 2 0 ARHGEF10L 17802641 1.000000 0.71417 1.000000 0.80357 0.977000 0.68977 5.048000 0.64238 1.782000 0.52362 0.533000 0.62120 GTC ARHGEF10L-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007149.1 + ENST00000375415.1 Missense_Mutation SNP PCPG-TCGA-QR-A702-Normal-SM-5EQFA CRHR2 1395 broad.mit.edu 37 7 30695314 30695314 + Missense_Mutation SNP G G C TCGA-QR-A702-01A-11D-A35D-08 TCGA-QR-A702-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a8557fb-9487-4f47-a15b-2a2da8282092 8e591104-bd61-4595-bc0c-54a0f0368e34 g.chr7:30695314G>C ENST00000471646.1 - 10.0 1352 c.935C>G c.(934-936)aCc>aGc p.T312S CRHR2_ENST00000341843.4_Missense_Mutation_p.T298S|CRHR2_ENST00000348438.4_Missense_Mutation_p.T339S|CRHR2_ENST00000506074.2_Missense_Mutation_p.T312S NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 312.0 adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) corticotrophin-releasing factor receptor activity (GO:0015056) breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28.0 GAGCACCAGGGTGGCCTTCAC 0.622 0 137.0 133.0 134.0 7 30695314.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1 7p21-p15 2012-08-10 ENSG00000106113 ENSG00000106113 1395.0 1395.0 """GPCR / Class B : Corticotropin-releasing factor receptors""" 2358.0 protein-coding gene gene with protein product 602034.0 8536644 Standard NM_001883 Approved CRF2, CRF-RB, HM-CRF uc003tbp.3 Q13324 OTTHUMG00000023218 ENST00000471646.1:c.935C>G 7.__UNKNOWN__:g.30695314G>C ENSP00000418722:p.Thr312Ser B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431 __UNKNOWN__ CCDS5429.1 . . . . . . . . . . G 20.4 3.982530 0.74474 . . ENSG00000106113 ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074 T;T;T;T 0.37058 1.22;1.22;1.22;1.22 5.11 5.11 0.69529 GPCR, family 2-like (1); 0.000000 0.85682 D 0.000000 T 0.64972 0.2647 M 0.88979 2.995 0.80722 D 1 D;D;D;P;D 0.59767 0.986;0.986;0.982;0.951;0.986 D;D;P;P;P 0.65323 0.934;0.91;0.854;0.769;0.889 T 0.72404 -0.4304 10 0.72032 D 0.01 . 16.4065 0.83671 0.0:0.0:1.0:0.0 . 311;312;339;298;312 B3SXT0;B3SXS6;Q13324-2;Q13324-3;Q13324 .;.;.;.;CRFR2_HUMAN S 312;339;298;312 ENSP00000418722:T312S;ENSP00000340943:T339S;ENSP00000344304:T298S;ENSP00000426498:T312S ENSP00000344304:T298S T - 2 0 CRHR2 30661839 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 9.830000 0.99415 2.533000 0.85409 0.561000 0.74099 ACC CRHR2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250448.3 - ENST00000471646.1 Missense_Mutation SNP PCPG-TCGA-QR-A702-Normal-SM-5EQFA ZNF131 7690 broad.mit.edu 37 5 43174694 43174694 + Missense_Mutation SNP A A G TCGA-QR-A702-01A-11D-A35D-08 TCGA-QR-A702-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a8557fb-9487-4f47-a15b-2a2da8282092 8e591104-bd61-4595-bc0c-54a0f0368e34 g.chr5:43174694A>G ENST00000399534.1 + 7.0 1375 c.1331A>G c.(1330-1332)aAt>aGt p.N444S ZNF131_ENST00000505606.2_Missense_Mutation_p.N410S|ZNF131_ENST00000306938.4_Missense_Mutation_p.N410S|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.N444S|ZNF131_ENST00000509634.1_Missense_Mutation_p.N410S P52739 ZN131_HUMAN zinc finger protein 131 444.0 regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17.0 GATGCTCACAATATTTCAGAG 0.378 0 119.0 109.0 112.0 5 43174694.0 1919.0 4125.0 6044.0 SO:0001583 missense U09410 CCDS43313.1 5p12 2013-01-09 2006-06-13 ENSG00000172262 ENSG00000172262 7690.0 7690.0 """Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing""" 12915.0 protein-coding gene gene with protein product """zinc finger and BTB domain containing 35""" 604073.0 """zinc finger protein 131 (clone pHZ-10)""" Standard NM_003432 XM_005248359 Approved ZBTB35, pHZ-10 uc003jnk.3 P52739 OTTHUMG00000162223 ENST00000399534.1:c.1331A>G 5.__UNKNOWN__:g.43174694A>G ENSP00000382450:p.Asn444Ser B4DRL3|Q6PIF0 __UNKNOWN__ . . . . . . . . . . A 7.271 0.607235 0.14002 . . ENSG00000172262 ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634 T;T;T;T;T 0.05786 3.39;3.39;3.39;3.39;3.39 5.61 5.61 0.85477 . 0.250952 0.40554 N 0.001065 T 0.09379 0.0231 N 0.12887 0.27 0.33836 D 0.630915 D;B 0.63880 0.993;0.376 D;B 0.68192 0.956;0.084 T 0.05533 -1.0879 10 0.02654 T 1 -18.9149 15.8002 0.78447 1.0:0.0:0.0:0.0 . 444;410 P52739;P52739-2 ZN131_HUMAN;. S 444;410;444;410;410 ENSP00000426504:N444S;ENSP00000305804:N410S;ENSP00000382450:N444S;ENSP00000423945:N410S;ENSP00000421246:N410S ENSP00000305804:N410S N + 2 0 ZNF131 43210451 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 2.478000 0.45189 2.135000 0.66039 0.377000 0.23210 AAT ZNF131-201 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000367982.1 + ENST00000399534.1 Missense_Mutation SNP PCPG-TCGA-QR-A702-Normal-SM-5EQFA MXRA5 25878 broad.mit.edu 37 X 3238548 3238548 + Silent SNP G G A TCGA-QR-A702-01A-11D-A35D-08 TCGA-QR-A702-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a8557fb-9487-4f47-a15b-2a2da8282092 8e591104-bd61-4595-bc0c-54a0f0368e34 g.chrX:3238548G>A ENST00000217939.6 - 5.0 5332 c.5178C>T c.(5176-5178)tcC>tcT p.S1726S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1726.0 extracellular vesicular exosome (GO:0070062) 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) 157.0 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTCTTCCATTGGAATAATGAG 0.463 0 69.0 65.0 67.0 X 3238548.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF245505 CCDS14124.1 Xp22.33 2013-01-29 ENSG00000101825 ENSG00000101825 25878.0 25878.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 7539.0 protein-coding gene gene with protein product """adlican""" 12101425 Standard NM_015419 NM_015419 Approved DKFZp564I1922 uc004crg.4 Q9NR99 OTTHUMG00000021083 ENST00000217939.6:c.5178C>T X.__UNKNOWN__:g.3238548G>A Q6P1M7|Q9Y3Y8 __UNKNOWN__ CCDS14124.1 MXRA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055655.2 - ENST00000217939.6 Silent SNP PCPG-TCGA-QR-A702-Normal-SM-5EQFA TBC1D31 93594 broad.mit.edu 37 8 124146352 124146352 + Splice_Site SNP A A G TCGA-QR-A702-01A-11D-A35D-08 TCGA-QR-A702-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a8557fb-9487-4f47-a15b-2a2da8282092 8e591104-bd61-4595-bc0c-54a0f0368e34 g.chr8:124146352A>G ENST00000518805.1 + 10.0 1192 c.e10-1 TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000287380.1_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site Q96DN5 TBC31_HUMAN TBC1 domain family, member 31 centrosome (GO:0005813) Rab GTPase activator activity (GO:0005097) GTTTGGCCATAGGTATATATG 0.328 0 85.0 90.0 88.0 8 124146352.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AK094612 CCDS6338.1, CCDS47916.1 8q24.13 2013-07-10 2013-07-10 2013-07-10 ENSG00000156787 ENSG00000156787 93594.0 93594.0 """WD repeat domain containing""" 30888.0 protein-coding gene gene with protein product """WD repeat domain 67""" WDR67 12477932 Standard NM_145647 NM_001145088 Approved MGC21654, Gm85 uc003ypp.2 Q96DN5 OTTHUMG00000165081 ENST00000518805.1:c.1069-1A>G 8.__UNKNOWN__:g.124146352A>G B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9 __UNKNOWN__ . . . . . . . . . . A 15.07 2.725255 0.48833 . . ENSG00000156787 ENST00000287380;ENST00000309336;ENST00000522420;ENST00000521676;ENST00000518805 . . . 5.49 5.49 0.81192 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 13.8355 0.63406 1.0:0.0:0.0:0.0 . . . . . -1 . . . + . . WDR67 124215533 1.000000 0.71417 0.845000 0.33349 0.025000 0.11179 7.044000 0.76578 2.089000 0.63090 0.533000 0.62120 . TBC1D31-003 PUTATIVE alternative_5_UTR|basic|exp_conf protein_coding protein_coding OTTHUMT00000381732.1 Intron + ENST00000518805.1 Splice_Site SNP PCPG-TCGA-QR-A702-Normal-SM-5EQFA AMER1 139285 broad.mit.edu 37 X 63412960 63412960 + Silent SNP C C A TCGA-QR-A702-01A-11D-A35D-08 TCGA-QR-A702-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a8557fb-9487-4f47-a15b-2a2da8282092 8e591104-bd61-4595-bc0c-54a0f0368e34 g.chrX:63412960C>A ENST00000330258.3 - 2.0 479 c.207G>T c.(205-207)ctG>ctT p.L69L AMER1_ENST00000403336.1_Silent_p.L69L|AMER1_ENST00000374869.3_Silent_p.L69L NM_152424.3 NP_689637.3 Q5JTC6 AMER1_HUMAN APC membrane recruitment protein 1 69.0 adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055) cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) p.0?(67) AGAAACTAGGCAGAGTACAGA 0.537 67 Whole gene deletion(67) kidney(65)|ovary(1)|large_intestine(1) 148.0 119.0 129.0 X 63412960.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK097146 CCDS14377.2 Xq11.1 2012-12-03 2012-12-03 2012-12-03 ENSG00000184675 ENSG00000184675 139285.0 139285.0 """-""" 26837.0 protein-coding gene gene with protein product """Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1""" 300647.0 """family with sequence similarity 123B""" FAM123B 21304492, 21498506, 20843316 Standard NM_152424 NM_152424 Approved RP11-403E24.2, FLJ39827, WTX uc004dvo.3 Q5JTC6 OTTHUMG00000021703 ENST00000330258.3:c.207G>T X.__UNKNOWN__:g.63412960C>A A2IB86|Q8N885 __UNKNOWN__ CCDS14377.2 AMER1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316584.1 - ENST00000330258.3 Silent SNP PCPG-TCGA-QR-A702-Normal-SM-5EQFA BCAR1 9564 broad.mit.edu 37 16 75263909 75263909 + Missense_Mutation SNP C C T TCGA-QR-A702-01A-11D-A35D-08 TCGA-QR-A702-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a8557fb-9487-4f47-a15b-2a2da8282092 8e591104-bd61-4595-bc0c-54a0f0368e34 g.chr16:75263909C>T ENST00000162330.5 - 7.0 2239 c.2113G>A c.(2113-2115)Gaa>Aaa p.E705K BCAR1_ENST00000393420.6_Missense_Mutation_p.E723K|BCAR1_ENST00000535626.2_Missense_Mutation_p.E557K|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000418647.3_Missense_Mutation_p.E751K|BCAR1_ENST00000542031.2_Missense_Mutation_p.E703K|BCAR1_ENST00000420641.3_Missense_Mutation_p.E723K|BCAR1_ENST00000538440.2_Missense_Mutation_p.E705K|BCAR1_ENST00000546196.1_Missense_Mutation_p.E676K|BCAR1_ENST00000393422.2_Missense_Mutation_p.E723K NM_001170717.1|NM_014567.3 NP_001164188.1|NP_055382.2 P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 705.0 actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010) cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726) protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871) breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35.0 BRCA - Breast invasive adenocarcinoma(221;0.169) TCCAGTCGTTCAAACTGCTTC 0.667 0 29.0 34.0 33.0 16 75263909.0 2157.0 4228.0 6385.0 SO:0001583 missense AJ242987 CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1 16q22-q23 2011-04-13 ENSG00000050820 ENSG00000050820 9564.0 9564.0 """Cas scaffolding proteins""" 971.0 protein-coding gene gene with protein product """Crk-associated substrate"", ""Cas scaffolding protein family member 1""" 602941.0 8413311, 10639512 Standard NM_014567 NM_001170714 Approved P130Cas, Crkas, CAS, CASS1 uc010vnb.2 P56945 OTTHUMG00000137604 ENST00000162330.5:c.2113G>A 16.__UNKNOWN__:g.75263909C>T ENSP00000162330:p.Glu705Lys B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7 __UNKNOWN__ CCDS10915.1 . . . . . . . . . . C 18.87 3.714474 0.68730 . . ENSG00000050820 ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196 T;T;T;T;T;T;T;T;T 0.26373 1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74 4.72 4.72 0.59763 CAS family, DUF3513 (1); 0.000000 0.85682 D 0.000000 T 0.44414 0.1292 L 0.45581 1.43 0.80722 D 1 D;D;D;D;D;D;D;D;D 0.76494 0.992;0.999;0.992;0.99;0.99;0.992;0.999;0.992;0.999 D;D;D;D;D;D;D;D;D 0.85130 0.987;0.994;0.987;0.979;0.979;0.987;0.994;0.987;0.997 T 0.21314 -1.0249 10 0.38643 T 0.18 -40.4241 16.6397 0.85068 0.0:1.0:0.0:0.0 . 723;557;751;703;723;723;705;705;495 B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2 .;.;.;.;.;.;.;BCAR1_HUMAN;. K 705;723;723;705;751;557;723;703;676 ENSP00000162330:E705K;ENSP00000377074:E723K;ENSP00000392708:E723K;ENSP00000443841:E705K;ENSP00000391669:E751K;ENSP00000440370:E557K;ENSP00000377072:E723K;ENSP00000440415:E703K;ENSP00000442161:E676K ENSP00000162330:E705K E - 1 0 BCAR1 73821410 1.000000 0.71417 1.000000 0.80357 0.516000 0.34256 2.983000 0.49345 2.328000 0.79073 0.557000 0.71058 GAA BCAR1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000269017.1 - ENST00000162330.5 Missense_Mutation SNP PCPG-TCGA-QR-A702-Normal-SM-5EQFA PQLC2 54896 broad.mit.edu 37 1 19644309 19644309 + Missense_Mutation SNP T T G TCGA-QR-A702-01A-11D-A35D-08 TCGA-QR-A702-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a8557fb-9487-4f47-a15b-2a2da8282092 8e591104-bd61-4595-bc0c-54a0f0368e34 g.chr1:19644309T>G ENST00000375153.3 + 2.0 778 c.138T>G c.(136-138)atT>atG p.I46M PQLC2_ENST00000400548.2_Intron|PQLC2_ENST00000375155.3_Missense_Mutation_p.I46M NM_001040125.1 NP_001035214.1 Q6ZP29 LAAT1_HUMAN PQ loop repeat containing 2 46.0 PQ-loop 1. amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819) integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765) arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189) haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10.0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TGATCTCCATTCTCTGCTTTG 0.617 0 288.0 279.0 282.0 1 19644309.0 2203.0 4300.0 6503.0 SO:0001583 missense BC015324 CCDS195.2, CCDS30618.1 1p36.13 2013-10-11 ENSG00000040487 ENSG00000040487 54896.0 54896.0 26001.0 protein-coding gene gene with protein product 614760.0 23169667 Standard NM_017765 XM_005245915 Approved FLJ20320 uc001bby.3 Q6ZP29 OTTHUMG00000002521 ENST00000375153.3:c.138T>G 1.__UNKNOWN__:g.19644309T>G ENSP00000364295:p.Ile46Met B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7 __UNKNOWN__ CCDS195.2 . . . . . . . . . . T 16.93 3.256795 0.59321 . . ENSG00000040487 ENST00000375155;ENST00000375153 D;D 0.98381 -4.9;-4.9 5.5 -3.68 0.04463 . 0.000000 0.85682 D 0.000000 D 0.97589 0.9210 M 0.73372 2.23 0.80722 D 1 P 0.51057 0.941 P 0.57548 0.823 D 0.95218 0.8331 10 0.42905 T 0.14 -12.9651 10.1331 0.42691 0.1468:0.6633:0.0:0.1899 . 46 Q6ZP29 PQLC2_HUMAN M 46 ENSP00000364297:I46M;ENSP00000364295:I46M ENSP00000364295:I46M I + 3 3 PQLC2 19516896 0.000000 0.05858 0.737000 0.30932 0.990000 0.78478 -0.240000 0.08952 -0.222000 0.09958 0.391000 0.25812 ATT PQLC2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007255.1 + ENST00000375153.3 Missense_Mutation SNP PCPG-TCGA-QR-A702-Normal-SM-5EQFA PIK3C2A 5286 broad.mit.edu 37 11 17170220 17170220 + Missense_Mutation SNP A A C TCGA-QR-A702-01A-11D-A35D-08 TCGA-QR-A702-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a8557fb-9487-4f47-a15b-2a2da8282092 8e591104-bd61-4595-bc0c-54a0f0368e34 g.chr11:17170220A>C ENST00000265970.7 - 4.0 1441 c.1442T>G c.(1441-1443)cTg>cGg p.L481R PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L101R|PIK3C2A_ENST00000531428.1_Intron NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 481.0 PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}. clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091) 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) 58.0 TTACTTCTGCAGCACTTCCTC 0.323 0 101.0 91.0 94.0 11 17170220.0 2200.0 4292.0 6492.0 SO:0001583 missense Y13367 CCDS7824.1 11p15.5-p14 2012-07-13 2012-07-13 ENSG00000011405 5286.0 5286.0 2.7.1.154 8971.0 protein-coding gene gene with protein product 603601.0 """phosphoinositide-3-kinase, class 2, alpha polypeptide""" 9337861 Standard NM_002645 NM_002645 Approved PI3K-C2alpha uc001mmq.4 O00443 ENST00000265970.7:c.1442T>G 11.__UNKNOWN__:g.17170220A>C ENSP00000265970:p.Leu481Arg B0LPH2|B4E2G4|Q14CQ9 __UNKNOWN__ CCDS7824.1 . . . . . . . . . . A 23.4 4.412266 0.83340 . . ENSG00000011405 ENST00000265970;ENST00000540361;ENST00000544896 T;T 0.63096 -0.02;-0.02 5.11 5.11 0.69529 Phosphoinositide 3-kinase, ras-binding (2); 0.000000 0.64402 D 0.000001 T 0.80523 0.4639 M 0.84326 2.69 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 0.999;1.0 D 0.83986 0.0335 10 0.87932 D 0 -5.4831 15.1796 0.72945 1.0:0.0:0.0:0.0 . 481;481 F5H5W9;O00443 .;P3C2A_HUMAN R 481;101;481 ENSP00000265970:L481R;ENSP00000438687:L101R ENSP00000265970:L481R L - 2 0 PIK3C2A 17126796 1.000000 0.71417 0.998000 0.56505 0.994000 0.84299 8.810000 0.91950 2.056000 0.61249 0.482000 0.46254 CTG PIK3C2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387553.1 - ENST00000265970.7 Missense_Mutation SNP PCPG-TCGA-QR-A702-Normal-SM-5EQFA NF1 4763 broad.mit.edu 37 17 29552214 29552215 + Frame_Shift_Ins INS - - G TCGA-QR-A702-01A-11D-A35D-08 TCGA-QR-A702-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a8557fb-9487-4f47-a15b-2a2da8282092 8e591104-bd61-4595-bc0c-54a0f0368e34 g.chr17:29552214_29552215insG ENST00000358273.4 + 17.0 2330_2331 c.1947_1948insG c.(1948-1950)ttafs p.L650fs NF1_ENST00000356175.3_Frame_Shift_Ins_p.L650fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 650.0 actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060) axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634) phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099) p.0?(8)|p.?(4) 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) 599.0 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) ATCATGAAGAATTACTACGTAC 0.421 """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) yes Rec yes Neurofibromatosis type 1 17 17q12 4763.0 neurofibromatosis type 1 gene O 12 Whole gene deletion(8)|Unknown(4) soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1) SO:0001589 frameshift_variant Familial Cancer Database NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome CCDS11264.1, CCDS42292.1, CCDS45645.1 17q11.2 2014-09-17 2008-07-31 ENSG00000196712 ENSG00000196712 4763.0 4763.0 7765.0 protein-coding gene gene with protein product """neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease""" 613113.0 1715669 Standard NM_000267 NM_000267 Approved uc002hgg.3 P21359 OTTHUMG00000132871 Exception_encountered 17.__UNKNOWN__:g.29552214_29552215insG ENSP00000351015:p.Leu650fs O00662|Q14284|Q14930|Q14931|Q9UMK3 __UNKNOWN__ CCDS42292.1 NF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256351.2 + ENST00000358273.4 Frame_Shift_Ins INS PCPG-TCGA-QR-A702-Normal-SM-5EQFA RP5-1121H13.4 0 bcgsc.ca 37 20 40626453 40626453 + RNA SNP C C A TCGA-QR-A702-01A-11D-A35D-08 TCGA-QR-A702-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 3a8557fb-9487-4f47-a15b-2a2da8282092 8e591104-bd61-4595-bc0c-54a0f0368e34 g.chr20:40626453C>A ENST00000431589.1 + 0.0 131 GGGGACTTGGCCTTCTCGGGG 0.542 0 ENST00000431589.1: 20.__UNKNOWN__:g.40626453C>A __UNKNOWN__ RP5-1121H13.4-001 KNOWN basic antisense antisense OTTHUMT00000079282.1 + ENST00000431589.1 RNA SNP PCPG-TCGA-QR-A702-Normal-SM-5EQFA IQGAP2 10788 ucsc.edu 37 5 75998356 75998356 + Missense_Mutation SNP T T A TCGA-QR-A702-01A-11D-A35D-08 TCGA-QR-A702-10A-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 3a8557fb-9487-4f47-a15b-2a2da8282092 8e591104-bd61-4595-bc0c-54a0f0368e34 g.chr5:75998356T>A ENST00000274364.6 + 35.0 4852 c.4555T>A c.(4555-4557)Ttc>Atc p.F1519I CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000508410.1_3'UTR|IQGAP2_ENST00000502745.1_Missense_Mutation_p.F1015I|IQGAP2_ENST00000379730.3_Missense_Mutation_p.F1021I|IQGAP2_ENST00000396234.3_Missense_Mutation_p.F1015I NM_006633.2 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1519.0 negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902) actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099) 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) 68.0 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) TGTAGGCATTTTCGATGTAAG 0.333 0 139.0 133.0 135.0 5 75998356.0 2203.0 4300.0 6503.0 SO:0001583 missense U51903 CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1 5q 2008-07-18 ENSG00000145703 ENSG00000145703 10788.0 10788.0 6111.0 protein-coding gene gene with protein product 605401 8756646 Standard NM_006633 XM_005248409 Approved uc003kek.3 Q13576 OTTHUMG00000162432 ENST00000274364.6:c.4555T>A 5.__UNKNOWN__:g.75998356T>A ENSP00000274364:p.Phe1519Ile A8K4V1|B7Z8A4|J3KR91 __UNKNOWN__ CCDS34188.1 . . . . . . . . . . T 28.3 4.911059 0.92178 . . ENSG00000145703 ENST00000274364;ENST00000379730;ENST00000396234;ENST00000502745 T;T;T;T 0.12569 2.72;2.68;2.68;2.67 5.41 5.41 0.78517 . 0.000000 0.85682 D 0.000000 T 0.47930 0.1472 M 0.92169 3.28 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.999;0.999;0.996 T 0.61362 -0.7078 10 0.87932 D 0 -21.9809 15.4411 0.75184 0.0:0.0:0.0:1.0 . 1021;1015;1519 F5H7S7;Q13576-2;Q13576 .;.;IQGA2_HUMAN I 1519;1021;1015;1015 ENSP00000274364:F1519I;ENSP00000442313:F1021I;ENSP00000379535:F1015I;ENSP00000426027:F1015I ENSP00000274364:F1519I F + 1 0 IQGAP2 76034112 1.000000 0.71417 0.998000 0.56505 0.844000 0.47949 7.997000 0.88414 2.060000 0.61445 0.533000 0.62120 TTC IQGAP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000368877.1 + ENST00000274364.6 Missense_Mutation SNP PCPG-TCGA-QR-A702-Normal-SM-5EQFA WDR52 55779 broad.mit.edu 37 3 113098180 113098180 + Silent SNP T T C TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr3:113098180T>C ENST00000295868.2 - 17.0 2433 c.2271A>G c.(2269-2271)tcA>tcG p.S757S WDR52_ENST00000393845.2_Silent_p.S757S NM_018338.3 NP_060808.2 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49.0 TCCCTGGCTCTGAGTAAAATC 0.383 0 55.0 57.0 56.0 3 113098180.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant ENST00000295868.2:c.2271A>G 3.__UNKNOWN__:g.113098180T>C __UNKNOWN__ CCDS2972.1 WDR52-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000354128.3 - ENST00000295868.2 Silent SNP PCPG-TCGA-QR-A703-Normal-SM-5EQFW ARHGEF1 0 broad.mit.edu 37 19 42398295 42398295 + Silent SNP C C T TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr19:42398295C>T ENST00000337665.4 + 9.0 725 c.705C>T c.(703-705)aaC>aaT p.N235N ARHGEF1_ENST00000599846.1_Silent_p.N220N|ARHGEF1_ENST00000354532.3_Silent_p.N220N|ARHGEF1_ENST00000347545.4_Silent_p.N187N|ARHGEF1_ENST00000378152.4_Silent_p.N202N NM_199002.1 NP_945353.1 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 220.0 cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886) GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37.0 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) CCGTGGTCAACGCCATTGGCC 0.557 0 C ,, 0,4406 0,0,2203 114.0 72.0 86.0 660,561,705 -6.9 0.0 19 86.0 1,8597 1.2+/-3.3 0,1,4298 no coding-synonymous,coding-synonymous,coding-synonymous ARHGEF1 NM_004706.3,NM_198977.1,NM_199002.1 ,, 0,1,6501 TT,TC,CC 0.0116,0.0,0.0077 ,, 220/913,187/880,235/928 42398295.0 1,13003 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant U64105 CCDS12590.1, CCDS12591.1, CCDS12592.1 19q13.13 2014-06-19 ENSG00000076928 ENSG00000076928 9138.0 9138.0 """Rho guanine nucleotide exchange factors""" 681.0 protein-coding gene gene with protein product 601855.0 8810315, 9135076 Standard NM_199002 NM_004706 Approved P115-RHOGEF, SUB1.5, LBCL2 uc002osa.3 Q92888 OTTHUMG00000182679 ENST00000337665.4:c.705C>T 19.__UNKNOWN__:g.42398295C>T O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1 __UNKNOWN__ CCDS12590.1 ARHGEF1-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000463366.1 + ENST00000337665.4 Silent SNP PCPG-TCGA-QR-A703-Normal-SM-5EQFW NASP 4678 broad.mit.edu 37 1 46073584 46073584 + Missense_Mutation SNP T T G TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr1:46073584T>G ENST00000350030.3 + 6.0 1088 c.1001T>G c.(1000-1002)gTa>gGa p.V334G NASP_ENST00000402363.3_Missense_Mutation_p.V336G|NASP_ENST00000537798.1_Missense_Mutation_p.V270G|NASP_ENST00000351223.3_Intron|NASP_ENST00000372052.4_Intron NM_002482.3 NP_002473.2 P49321 NASP_HUMAN nuclear autoantigenic sperm protein (histone-binding) 334.0 Glu-rich (acidic). blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031) cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234) Hsp90 protein binding (GO:0051879) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 17.0 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) GAACAACTGGTAGGTCAAGAA 0.542 0 68.0 69.0 69.0 1 46073584.0 2203.0 4300.0 6503.0 SO:0001583 missense M97856 CCDS524.1, CCDS525.1, CCDS55597.1 1p34.1 2013-01-10 ENSG00000132780 ENSG00000132780 4678.0 4678.0 """Tetratricopeptide (TTC) repeat domain containing""" 7644.0 protein-coding gene gene with protein product 603185.0 1426632 Standard NM_002482 NM_002482 Approved FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999 uc001coi.2 P49321 OTTHUMG00000007826 ENST00000350030.3:c.1001T>G 1.__UNKNOWN__:g.46073584T>G ENSP00000255120:p.Val334Gly A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2 __UNKNOWN__ CCDS524.1 . . . . . . . . . . T 1.507 -0.550605 0.03996 . . ENSG00000132780 ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768 D;D;D 0.94793 -3.52;-3.52;-3.52 5.13 -0.43 0.12299 . 0.799548 0.11019 N 0.608546 D 0.87346 0.6154 L 0.27053 0.805 0.09310 N 1 B;B;B;B;B 0.09022 0.001;0.001;0.002;0.0;0.001 B;B;B;B;B 0.08055 0.003;0.001;0.001;0.001;0.003 T 0.73972 -0.3814 9 . . . 0.1712 7.1263 0.25473 0.0:0.0821:0.436:0.4819 . 270;334;234;334;336 F5H3J2;Q53H03;B4DS57;P49321;P49321-3 .;.;.;NASP_HUMAN;. G 270;336;234;334;297 ENSP00000438871:V270G;ENSP00000384529:V336G;ENSP00000255120:V334G . V + 2 0 NASP 45846171 0.930000 0.31532 0.058000 0.19502 0.116000 0.19942 0.134000 0.15932 0.100000 0.17581 0.455000 0.32223 GTA NASP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000021533.2 + ENST00000350030.3 Missense_Mutation SNP PCPG-TCGA-QR-A703-Normal-SM-5EQFW ZC3H6 376940 broad.mit.edu 37 2 113089358 113089358 + Missense_Mutation SNP G G A TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr2:113089358G>A ENST00000409871.1 + 12.0 3264 c.2863G>A c.(2863-2865)Ggt>Agt p.G955S ZC3H6_ENST00000343936.4_Missense_Mutation_p.G955S NM_198581.2 NP_940983.2 P61129 ZC3H6_HUMAN zinc finger CCCH-type containing 6 955.0 metal ion binding (GO:0046872) central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35.0 AGACTCACACGGTTCAGGAGC 0.393 G 1.0 0.0005 2184.0 0.9999 , , 0.0003 0.0013 0.0005 0.9135 EXOME 0.0003 SNP 0 82.0 76.0 78.0 2 113089358.0 1850.0 4095.0 5945.0 SO:0001583 missense AK123404 CCDS46393.1 2q13 2012-07-05 2005-06-02 2005-06-02 ENSG00000188177 ENSG00000188177 376940.0 376940.0 """Zinc fingers, CCCH-type domain containing""" 24762.0 protein-coding gene gene with protein product """zinc finger CCCH-type domain containing 6""" ZC3HDC6 Standard NM_198581 NM_198581 Approved FLJ41410, FLJ45877, KIAA2035 uc002thq.1 P61129 OTTHUMG00000153286 ENST00000409871.1:c.2863G>A 2.__UNKNOWN__:g.113089358G>A ENSP00000386764:p.Gly955Ser A9JR71|Q6ZW96 __UNKNOWN__ CCDS46393.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 G 0.059 -1.229732 0.01518 . . ENSG00000188177 ENST00000409871;ENST00000343936 T;T 0.12255 2.7;2.7 5.27 1.58 0.23477 . 0.306550 0.41194 N 0.000931 T 0.03178 0.0093 N 0.00633 -1.31 0.09310 N 0.999992 B 0.02656 0.0 B 0.04013 0.001 T 0.45279 -0.9272 10 0.11485 T 0.65 -5.1045 9.0975 0.36647 0.6408:0.0:0.3592:0.0 . 955 P61129 ZC3H6_HUMAN S 955 ENSP00000386764:G955S;ENSP00000340298:G955S ENSP00000340298:G955S G + 1 0 ZC3H6 112805829 0.996000 0.38824 0.932000 0.37286 0.921000 0.55340 1.347000 0.33975 0.108000 0.17862 -0.383000 0.06682 GGT ZC3H6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000330551.1 + ENST00000409871.1 Missense_Mutation SNP PCPG-TCGA-QR-A703-Normal-SM-5EQFW SSTR3 0 broad.mit.edu 37 22 37602845 37602845 + Missense_Mutation SNP C C T TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr22:37602845C>T ENST00000328544.3 - 2.0 1531 c.998G>A c.(997-999)cGc>cAc p.R333H SSTR3_ENST00000402501.1_Missense_Mutation_p.R333H NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 333.0 cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283) ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886) somatostatin receptor activity (GO:0004994) p.R333H(1) NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14.0 Pasireotide(DB06663) GCGCACACGGCGGGAGGGCCG 0.667 1 Substitution - Missense(1) NS(1) 32.0 38.0 36.0 22 37602845.0 2203.0 4297.0 6500.0 SO:0001583 missense CCDS13944.1 22q13.1 2012-08-08 ENSG00000183473 ENSG00000278195 6753.0 """GPCR / Class A : Somatostatin receptors""" 11332.0 protein-coding gene gene with protein product 182453.0 8449518 Standard XM_006724311 Approved uc003arb.3 P32745 OTTHUMG00000150537 ENST00000328544.3:c.998G>A 22.__UNKNOWN__:g.37602845C>T ENSP00000330138:p.Arg333His A8K550|Q53ZR7 __UNKNOWN__ CCDS13944.1 . . . . . . . . . . C 16.39 3.109578 0.56398 . . ENSG00000183473 ENST00000328544;ENST00000402501 T;T 0.38401 1.14;1.14 5.29 5.29 0.74685 . 0.476428 0.22757 N 0.056007 T 0.53190 0.1781 M 0.66939 2.045 0.22620 N 0.998924 D 0.89917 1.0 D 0.67382 0.951 T 0.48234 -0.9053 10 0.15066 T 0.55 . 13.8588 0.63548 0.1527:0.8473:0.0:0.0 . 333 P32745 SSR3_HUMAN H 333 ENSP00000330138:R333H;ENSP00000384904:R333H ENSP00000330138:R333H R - 2 0 SSTR3 35932791 1.000000 0.71417 0.932000 0.37286 0.743000 0.42351 5.910000 0.69931 2.460000 0.83146 0.563000 0.77884 CGC SSTR3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318802.1 - ENST00000328544.3 Missense_Mutation SNP PCPG-TCGA-QR-A703-Normal-SM-5EQFW PTCH2 8643 broad.mit.edu 37 1 45288335 45288335 + Nonsense_Mutation SNP G G A TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr1:45288335G>A ENST00000372192.3 - 22.0 3494 c.3364C>T c.(3364-3366)Cag>Tag p.Q1122* PTCH2_ENST00000447098.2_Nonsense_Mutation_p.Q1122* NM_003738.4 NP_003729.3 Q9Y6C5 PTC2_HUMAN patched 2 1122.0 epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50.0 Acute lymphoblastic leukemia(166;0.155) TTGTACATCTGTATCACCTGT 0.622 Basal Cell Nevus syndrome 0 81.0 90.0 87.0 1 45288335.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained Familial Cancer Database Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS AF091501 CCDS516.1, CCDS53312.1 1p34.1 2010-06-24 2010-06-24 ENSG00000117425 ENSG00000117425 8643.0 8643.0 9586.0 protein-coding gene gene with protein product 603673.0 """patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)""" 9811851, 9931336 Standard NM_003738 NM_003738 Approved uc010olf.2 Q9Y6C5 OTTHUMG00000008490 ENST00000372192.3:c.3364C>T 1.__UNKNOWN__:g.45288335G>A ENSP00000361266:p.Gln1122* O95341|O95856|Q53Z57|Q5QP87|Q6UX14 __UNKNOWN__ CCDS516.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. g|g 39|39 7.430215|7.430215 0.98279|0.98279 .|. .|. ENSG00000117425|ENSG00000117425 ENST00000447098;ENST00000372192|ENST00000438067 .|. .|. .|. 4.33|4.33 4.33|4.33 0.51752|0.51752 .|. 0.000000|. 0.45126|. D|. 0.000385|. .|T .|0.52108 .|0.1714 .|. .|. .|. 0.80722|0.80722 A|A 1|1 .|. .|. .|. .|. .|. .|. .|T .|0.61811 .|-0.6986 .|3 0.38643|. T|. 0.18|. -8.5294|-8.5294 9.5986|9.5986 0.39589|0.39589 0.0:0.0:0.7912:0.2088|0.0:0.0:0.7912:0.2088 .|. .|. .|. .|. X|I 1122|42 .|. ENSP00000361266:Q1122X|. Q|T -|- 1|2 0|0 PTCH2|PTCH2 45060922|45060922 0.999000|0.999000 0.42202|0.42202 0.990000|0.990000 0.47175|0.47175 0.914000|0.914000 0.54420|0.54420 3.685000|3.685000 0.54678|0.54678 2.237000|2.237000 0.73441|0.73441 0.645000|0.645000 0.84053|0.84053 CAG|ACA PTCH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000023428.4 - ENST00000372192.3 Nonsense_Mutation SNP PCPG-TCGA-QR-A703-Normal-SM-5EQFW SPTBN2 6712 broad.mit.edu 37 11 66475224 66475224 + Silent SNP C C T rs145249947 byFrequency TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr11:66475224C>T ENST00000533211.1 - 13.0 1747 c.1416G>A c.(1414-1416)acG>acA p.T472T SPTBN2_ENST00000529997.1_Silent_p.T472T|SPTBN2_ENST00000309996.2_Silent_p.T472T O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 472.0 actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192) apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091) actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200) autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74.0 CCACGATGTCCGTCTCAATGG 0.672 C 4.0 0.0018 0.01 0.0028 2184.0 1.0 , , 0.0003 0.0019 0.9882 LOWCOV,EXOME 0.0006 SNP 0 C 44,4356 46.7+/-81.2 0,44,2156 60.0 55.0 56.0 1416 -8.9 0.9 11 dbSNP_134 56.0 1,8589 1.2+/-3.3 0,1,4294 no coding-synonymous SPTBN2 NM_006946.2 0,45,6450 TT,TC,CC 0.0116,1.0,0.3464 472/2391 66475224.0 45,12945 2200.0 4295.0 6495.0 SO:0001819 synonymous_variant AB008567, AF026487, AF026488, AF079569 CCDS8150.1 11q13.2 2013-01-10 ENSG00000173898 ENSG00000173898 6712.0 6712.0 """Pleckstrin homology (PH) domain containing""" 11276.0 protein-coding gene gene with protein product 604985.0 """spinocerebellar ataxia 5""" SCA5 9826670, 16429157 Standard NM_006946 NM_006946 Approved uc001ojd.3 O15020 OTTHUMG00000167262 ENST00000533211.1:c.1416G>A 11.__UNKNOWN__:g.66475224C>T O14872|O14873 __UNKNOWN__ CCDS8150.1 SPTBN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393892.2 - ENST00000533211.1 Silent SNP PCPG-TCGA-QR-A703-Normal-SM-5EQFW AGBL2 79841 broad.mit.edu 37 11 47712201 47712201 + Nonsense_Mutation SNP C C T TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr11:47712201C>T ENST00000528244.1 - 9.0 1197 c.944G>A c.(943-945)tGg>tAg p.W315* AGBL2_ENST00000298861.4_Nonsense_Mutation_p.W353*|AGBL2_ENST00000525123.1_Nonsense_Mutation_p.W353*|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Nonsense_Mutation_p.W353* Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 353.0 cytosol (GO:0005829) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34.0 TTCTCTCCTCCAGCCAATATT 0.453 0 136.0 127.0 130.0 11 47712201.0 2201.0 4298.0 6499.0 SO:0001587 stop_gained CCDS7944.1 11p11.2 2014-06-23 ENSG00000165923 ENSG00000165923 79841.0 79841.0 26296.0 protein-coding gene gene with protein product """cytoplasmic carboxypeptidase 2""" 12738998, 21303978 Standard NM_024783 NM_024783 Approved FLJ23598, CCP2 uc001ngg.3 Q5U5Z8 OTTHUMG00000165368 ENST00000528244.1:c.944G>A 11.__UNKNOWN__:g.47712201C>T ENSP00000436630:p.Trp315* A8MPX2|Q53FV5|Q8IV57|Q9H5C0 __UNKNOWN__ . . . . . . . . . . C 38 6.835127 0.97873 . . ENSG00000165923 ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595 . . . 5.87 5.87 0.94306 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -9.2279 20.206 0.98277 0.0:1.0:0.0:0.0 . . . . X 353;353;353;315;297 . ENSP00000298861:W353X W - 2 0 AGBL2 47668777 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 7.280000 0.78610 2.785000 0.95823 0.655000 0.94253 TGG AGBL2-003 NOVEL non_canonical_conserved|basic|exp_conf protein_coding protein_coding OTTHUMT00000383727.1 - ENST00000528244.1 Nonsense_Mutation SNP PCPG-TCGA-QR-A703-Normal-SM-5EQFW RPAP3 79657 bcgsc.ca 37 12 48073292 48073292 + Missense_Mutation SNP G G T TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr12:48073292G>T ENST00000005386.3 - 12.0 1386 c.1271C>A c.(1270-1272)cCg>cAg p.P424Q RPAP3_ENST00000432584.3_Missense_Mutation_p.P265Q|RPAP3_ENST00000380650.4_Intron NM_024604.2 NP_078880.2 Q9H6T3 RPAP3_HUMAN RNA polymerase II associated protein 3 424.0 p.P424L(1) endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16.0 Lung SC(27;0.192) TCCAGGATGCGGTGGATTATC 0.323 1 Substitution - Missense(1) large_intestine(1) 100.0 91.0 94.0 12 48073292.0 2203.0 4300.0 6503.0 SO:0001583 missense AK025561 CCDS8753.1, CCDS53782.1, CCDS53783.1 12q13.11 2013-01-10 ENSG00000005175 79657.0 79657.0 """Tetratricopeptide (TTC) repeat domain containing""" 26151.0 protein-coding gene gene with protein product 611477 17643375 Standard NM_024604 NM_024604 Approved FLJ21908, spag uc001rpr.3 Q9H6T3 OTTHUMG00000169668 ENST00000005386.3:c.1271C>A 12.__UNKNOWN__:g.48073292G>T ENSP00000005386:p.Pro424Gln B4DRW9|Q6PHR5 __UNKNOWN__ CCDS8753.1 . . . . . . . . . . G 0.605 -0.827547 0.02734 . . ENSG00000005175 ENST00000005386;ENST00000432584 T;T 0.15017 2.88;2.46 5.15 2.29 0.28610 . 2.528170 0.01367 N 0.012425 T 0.17280 0.0415 L 0.46157 1.445 0.09310 N 1 P 0.34780 0.468 B 0.36989 0.238 T 0.23511 -1.0186 10 0.15499 T 0.54 . 4.6233 0.12465 0.2342:0.0:0.5954:0.1704 . 424 Q9H6T3 RPAP3_HUMAN Q 424;265 ENSP00000005386:P424Q;ENSP00000401823:P265Q ENSP00000005386:P424Q P - 2 0 RPAP3 46359559 0.627000 0.27129 0.001000 0.08648 0.081000 0.17604 0.895000 0.28363 0.696000 0.31696 -0.784000 0.03344 CCG RPAP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405340.1 - ENST00000005386.3 Missense_Mutation SNP PCPG-TCGA-QR-A703-Normal-SM-5EQFW ATOH1 474 ucsc.edu 37 4 94750285 94750285 + Nonsense_Mutation SNP C C T TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr4:94750285C>T ENST00000306011.3 + 1.0 244 c.208C>T c.(208-210)Cag>Tag p.Q70* NM_005172.1 NP_005163.1 Q92858 ATOH1_HUMAN atonal homolog 1 (Drosophila) 70.0 auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 11.0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.57e-07) TCCCACTTTGCAGGGCATCTG 0.692 0 27.0 28.0 28.0 4 94750285.0 2202.0 4296.0 6498.0 SO:0001587 stop_gained U61148 CCDS3638.1 4q22 2013-05-21 ENSG00000172238 ENSG00000172238 474.0 474.0 """Basic helix-loop-helix proteins""" 797.0 protein-coding gene gene with protein product 601461 8872459 Standard NM_005172 NM_005172 Approved HATH1, MATH-1, Math1, bHLHa14 uc003hta.1 Q92858 OTTHUMG00000130972 ENST00000306011.3:c.208C>T 4.__UNKNOWN__:g.94750285C>T ENSP00000302216:p.Gln70* Q14CT9 __UNKNOWN__ CCDS3638.1 . . . . . . . . . . C 29.8 5.039853 0.93630 . . ENSG00000172238 ENST00000306011 . . . 4.2 4.2 0.49525 . 0.276068 0.33272 N 0.005090 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.25751 T 0.34 -16.8954 14.0965 0.65027 0.0:1.0:0.0:0.0 . . . . X 70 . ENSP00000302216:Q70X Q + 1 0 ATOH1 94969308 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 1.724000 0.38064 2.164000 0.68074 0.478000 0.44815 CAG ATOH1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253585.1 + ENST00000306011.3 Nonsense_Mutation SNP PCPG-TCGA-QR-A703-Normal-SM-5EQFW NSD1 64324 ucsc.edu 37 5 176638829 176638829 + Silent SNP T T C TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr5:176638829T>C ENST00000439151.2 + 5.0 3474 c.3429T>C c.(3427-3429)agT>agC p.S1143S NSD1_ENST00000354179.4_Silent_p.S874S|NSD1_ENST00000361032.4_Silent_p.S1040S|NSD1_ENST00000347982.4_Silent_p.S874S NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1143.0 gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleus (GO:0005634) androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) 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) 96.0 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) TAATGAACAGTGAGAATGATG 0.428 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) Dom yes 5 5q35 64324.0 nuclear receptor binding SET domain protein 1 yes L 0 80.0 83.0 82.0 5 176638829.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant Familial Cancer Database Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS AK026066 CCDS4412.1, CCDS4413.1 5q35 2014-09-17 2003-03-12 ENSG00000165671 ENSG00000165671 64324.0 64324.0 """Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type""" 14234.0 protein-coding gene gene with protein product 606681 """Sotos syndrome""" STO 9628876, 11896389 Standard NM_172349 NM_022455 Approved ARA267, FLJ22263, KMT3B uc003mfr.4 Q96L73 OTTHUMG00000130846 ENST00000439151.2:c.3429T>C 5.__UNKNOWN__:g.176638829T>C Q96PD8|Q96RN7 __UNKNOWN__ CCDS4412.1 NSD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253412.2 + ENST00000439151.2 Silent SNP PCPG-TCGA-QR-A703-Normal-SM-5EQFW PSMD1 5707 ucsc.edu 37 2 231926976 231926976 + Silent SNP C C T TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr2:231926976C>T ENST00000308696.6 + 3.0 237 c.75C>T c.(73-75)caC>caT p.H25H PSMD1_ENST00000373635.4_Silent_p.H25H|PSMD1_ENST00000409643.1_Silent_p.H25H NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 25.0 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838) enzyme regulator activity (GO:0030234) breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31.0 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) TTGCACTACACAAATTGAATG 0.294 0 47.0 50.0 49.0 2 231926976.0 2202.0 4297.0 6499.0 SO:0001819 synonymous_variant D44466 CCDS2482.1, CCDS54436.1 2q37.1 2008-05-22 ENSG00000173692 ENSG00000173692 5707.0 5707.0 """Proteasome (prosome, macropain) subunits""" 9554.0 protein-coding gene gene with protein product 8816993 Standard NM_002807 Approved S1, P112, Rpn2 uc002vrn.2 Q99460 OTTHUMG00000133223 ENST00000308696.6:c.75C>T 2.__UNKNOWN__:g.231926976C>T B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79 __UNKNOWN__ CCDS2482.1 PSMD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256958.2 + ENST00000308696.6 Silent SNP PCPG-TCGA-QR-A703-Normal-SM-5EQFW PLCL1 5334 broad.mit.edu 37 2 198948751 198948751 + Silent SNP A A G TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr2:198948751A>G ENST00000428675.1 + 2.0 908 c.510A>G c.(508-510)aaA>aaG p.K170K PLCL1_ENST00000437704.2_Silent_p.K72K NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 170.0 Interaction with PPP1C.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}. gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871) 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) 80.0 Quinacrine(DB01103) GACTGGGGAAAAACACGGAAA 0.463 0 109.0 116.0 114.0 2 198948751.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D42108 CCDS2326.1, CCDS2326.2 2q33 2014-06-13 2002-02-18 2002-02-22 ENSG00000115896 ENSG00000115896 5334.0 5334.0 9063.0 protein-coding gene gene with protein product """phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127""" 600597.0 """phospholipase C, epsilon""" PLCE 7633416 Standard NM_006226 NM_006226 Approved PLC-L, PLCL, PRIP, PPP1R127 uc010fsp.3 Q15111 OTTHUMG00000132750 ENST00000428675.1:c.510A>G 2.__UNKNOWN__:g.198948751A>G Q3MJ90|Q53SD3|Q7Z3S3 __UNKNOWN__ CCDS2326.2 PLCL1-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340210.1 + ENST00000428675.1 Silent SNP PCPG-TCGA-QR-A705-Normal-SM-5EQFM PTGS1 5742 broad.mit.edu 37 9 125145882 125145882 + Missense_Mutation SNP T T C TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr9:125145882T>C ENST00000362012.2 + 8.0 862 c.857T>C c.(856-858)gTg>gCg p.V286A PTGS1_ENST00000223423.4_Missense_Mutation_p.V286A|PTGS1_ENST00000540753.1_Missense_Mutation_p.V261A|PTGS1_ENST00000373698.5_Missense_Mutation_p.V177A NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2 NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 286.0 arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750) dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666) large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8.0 Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198) CAGATGGCTGTGGGCCAGGAG 0.617 0 80.0 68.0 72.0 9 125145882.0 2203.0 4300.0 6503.0 SO:0001583 missense M59979 CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1 9q32-q33.3 2008-02-05 ENSG00000095303 ENSG00000095303 5742.0 5742.0 1.14.99.1 9604.0 protein-coding gene gene with protein product 176805.0 2512924, 1907252 Standard NM_000962 Approved COX1, PGHS-1, PTGHS uc004bmg.2 P23219 OTTHUMG00000020605 ENST00000362012.2:c.857T>C 9.__UNKNOWN__:g.125145882T>C ENSP00000354612:p.Val286Ala A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8 __UNKNOWN__ CCDS6842.1 . . . . . . . . . . T 17.95 3.514825 0.64634 . . ENSG00000095303 ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698 T;T;T;T 0.62788 -0.0;-0.0;-0.0;-0.0 5.31 4.17 0.49024 . 0.227351 0.46758 D 0.000264 T 0.72061 0.3414 M 0.62266 1.93 0.42906 D 0.994249 B;B;B 0.28324 0.023;0.207;0.128 B;P;B 0.48770 0.202;0.589;0.272 T 0.71500 -0.4574 10 0.51188 T 0.08 -19.7193 11.8348 0.52316 0.0:0.0:0.1467:0.8532 . 261;286;286 B4DHQ2;P23219;P23219-2 .;PGH1_HUMAN;. A 261;286;286;177 ENSP00000437709:V261A;ENSP00000354612:V286A;ENSP00000223423:V286A;ENSP00000362802:V177A ENSP00000223423:V286A V + 2 0 PTGS1 124185703 1.000000 0.71417 0.920000 0.36463 0.539000 0.34962 6.306000 0.72810 0.849000 0.35215 -0.375000 0.07067 GTG PTGS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053933.1 + ENST00000362012.2 Missense_Mutation SNP PCPG-TCGA-QR-A705-Normal-SM-5EQFM HEATR2 54919 broad.mit.edu 37 7 803452 803452 + Missense_Mutation SNP A A G TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr7:803452A>G ENST00000297440.6 + 8.0 1644 c.1624A>G c.(1624-1626)Acg>Gcg p.T542A HEATR2_ENST00000313147.5_Missense_Mutation_p.T542A NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 542.0 cytoplasm (GO:0005737) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22.0 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) GGCACAGGAGACGATGGACTC 0.607 0 126.0 106.0 113.0 7 803452.0 2203.0 4300.0 6503.0 SO:0001583 missense AL832914, AK000404, NM_017802, AK056233 CCDS34580.1 7p22.3 2014-05-06 2006-05-19 ENSG00000164818 ENSG00000164818 54919.0 54919.0 26013.0 protein-coding gene gene with protein product 614864.0 23040496 Standard NM_017802 NM_017802 Approved FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18 uc010krz.1 Q86Y56 OTTHUMG00000151416 ENST00000297440.6:c.1624A>G 7.__UNKNOWN__:g.803452A>G ENSP00000297440:p.Thr542Ala Q69YL1|Q96FI9|Q9NX75 __UNKNOWN__ CCDS34580.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 12.39|12.39 1.923209|1.923209 0.33908|0.33908 .|. .|. ENSG00000164818|ENSG00000164818 ENST00000440747|ENST00000297440;ENST00000313147;ENST00000537862 .|T;T .|0.64260 .|-0.09;-0.09 5.03|5.03 1.2|1.2 0.21068|0.21068 .|Armadillo-like helical (1);Armadillo-type fold (1); .|0.186576 .|0.45361 .|N .|0.000373 T|T 0.65344|0.65344 0.2682|0.2682 L|L 0.60012|0.60012 1.86|1.86 0.45403|0.45403 D|D 0.998387|0.998387 .|D;D .|0.63046 .|0.963;0.992 .|P;P .|0.59487 .|0.621;0.858 T|T 0.59841|0.59841 -0.7378|-0.7378 5|10 .|0.18276 .|T .|0.48 -27.7328|-27.7328 8.5625|8.5625 0.33520|0.33520 0.7597:0.0:0.2403:0.0|0.7597:0.0:0.2403:0.0 .|. .|542;288 .|Q86Y56;F5H8D4 .|HEAT2_HUMAN;. G|A 343|542;542;288 .|ENSP00000297440:T542A;ENSP00000321451:T542A .|ENSP00000297440:T542A D|T +|+ 2|1 0|0 HEATR2|HEATR2 769978|769978 1.000000|1.000000 0.71417|0.71417 0.598000|0.598000 0.28837|0.28837 0.015000|0.015000 0.08874|0.08874 2.779000|2.779000 0.47734|0.47734 0.021000|0.021000 0.15133|0.15133 -0.366000|-0.366000 0.07423|0.07423 GAC|ACG HEATR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000322542.1 + ENST00000297440.6 Missense_Mutation SNP PCPG-TCGA-QR-A705-Normal-SM-5EQFM LAMA4 3910 broad.mit.edu 37 6 112522827 112522827 + Missense_Mutation SNP G G A TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr6:112522827G>A ENST00000230538.7 - 5.0 882 c.485C>T c.(484-486)gCt>gTt p.A162V LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 162.0 Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}. blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606) extracellular matrix structural constituent (GO:0005201) 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) 100.0 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) GTTAGGTCCAGCATAATTTTC 0.388 0 282.0 295.0 291.0 6 112522827.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS34514.1, CCDS43491.1, CCDS43492.1 6q21 2014-09-17 ENSG00000112769 ENSG00000112769 3910.0 3910.0 """Laminins""" 6484.0 protein-coding gene gene with protein product 600133.0 7959779 Standard NM_001105206 NM_001105206 Approved LAMA3 uc003pvu.3 Q16363 OTTHUMG00000015386 ENST00000230538.7:c.485C>T 6.__UNKNOWN__:g.112522827G>A ENSP00000230538:p.Ala162Val Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9 __UNKNOWN__ CCDS43491.1 . . . . . . . . . . G 18.10 3.548413 0.65311 . . ENSG00000112769 ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639 T;T;T;T;T 0.62498 0.02;0.02;0.02;0.02;0.02 6.07 5.2 0.72013 EGF-like, laminin (4); 0.052287 0.85682 N 0.000000 T 0.26340 0.0643 L 0.28115 0.83 0.80722 D 1 B;B 0.06786 0.001;0.001 B;B 0.12156 0.007;0.004 T 0.19582 -1.0301 10 0.05833 T 0.94 . 14.1512 0.65387 0.07:0.0:0.93:0.0 . 162;162 Q16363;Q16363-2 LAMA4_HUMAN;. V 162 ENSP00000230538:A162V;ENSP00000429488:A162V;ENSP00000374114:A162V;ENSP00000416470:A162V;ENSP00000430336:A162V ENSP00000230538:A162V A - 2 0 LAMA4 112629520 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 5.525000 0.67110 1.547000 0.49401 0.655000 0.94253 GCT LAMA4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000041876.2 - ENST00000230538.7 Missense_Mutation SNP PCPG-TCGA-QR-A705-Normal-SM-5EQFM SERPINB2 5055 broad.mit.edu 37 18 61565020 61565020 + Silent SNP A A G TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr18:61565020A>G ENST00000299502.4 + 5.0 557 c.477A>G c.(475-477)ctA>ctG p.L159L SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000457692.1_Silent_p.L159L NM_002575.2 NP_002566.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 159.0 blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) serine-type endopeptidase inhibitor activity (GO:0004867) NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32.0 Esophageal squamous(42;0.131) Tenecteplase(DB00031)|Urokinase(DB00013) TAGACTTCCTAGAATGTGCAG 0.338 0 60.0 64.0 63.0 18 61565020.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant Y00630 CCDS11989.1 18q21.3 2014-02-18 2005-08-18 ENSG00000197632 ENSG00000197632 5055.0 5055.0 """Serine (or cysteine) peptidase inhibitors""" 8584.0 protein-coding gene gene with protein product 173390.0 """serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2""" PLANH2, PAI2 24172014 Standard NM_002575 NM_002575 Approved HsT1201 uc002ljo.3 P05120 OTTHUMG00000060592 ENST00000299502.4:c.477A>G 18.__UNKNOWN__:g.61565020A>G Q96E96 __UNKNOWN__ CCDS11989.1 . . . . . . . . . . A 7.914 0.737108 0.15574 . . ENSG00000242550 ENST00000397996;ENST00000418725 . . . 5.6 1.65 0.23941 . . . . . T 0.24699 0.0599 . . . 0.09310 N 0.999999 . . . . . . T 0.23547 -1.0185 4 . . . . 4.2545 0.10710 0.4858:0.0:0.3582:0.1561 . . . . G 36 . . R + 1 2 SERPINB10 59716000 0.000000 0.05858 0.942000 0.38095 0.890000 0.51754 0.298000 0.19120 0.081000 0.16988 0.528000 0.53228 AGA SERPINB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000134009.1 + ENST00000299502.4 Silent SNP PCPG-TCGA-QR-A705-Normal-SM-5EQFM APEH 327 broad.mit.edu 37 3 49717042 49717042 + Missense_Mutation SNP A A G TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr3:49717042A>G ENST00000296456.5 + 13.0 1575 c.1175A>G c.(1174-1176)gAc>gGc p.D392G APEH_ENST00000438011.1_Missense_Mutation_p.D392G NM_001640.3 NP_001631.3 P13798 ACPH_HUMAN acylaminoacyl-peptide hydrolase 392.0 beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965) omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252) endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1) 15.0 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TTTGCTGTGGACACCCAAGTG 0.612 0 270.0 214.0 233.0 3 49717042.0 2203.0 4300.0 6503.0 SO:0001583 missense D38441 CCDS2801.1 3p21 2013-05-29 2013-05-29 ENSG00000164062 ENSG00000164062 327.0 327.0 3.4.19.1 586.0 protein-coding gene gene with protein product """acylaminoacyl-peptidase""" 102645.0 """N-acylaminoacyl-peptide hydrolase""" D3F15S2, DNF15S2, D3S48E 2392324 Standard NM_001640 Approved uc003cxf.3 P13798 OTTHUMG00000156882 ENST00000296456.5:c.1175A>G 3.__UNKNOWN__:g.49717042A>G ENSP00000296456:p.Asp392Gly Q9BQ33|Q9P0Y2 __UNKNOWN__ CCDS2801.1 . . . . . . . . . . A 19.80 3.894130 0.72639 . . ENSG00000164062 ENST00000296456;ENST00000438011 T;T 0.56611 0.45;0.45 4.59 4.59 0.56863 Six-bladed beta-propeller, TolB-like (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1); 0.092377 0.64402 D 0.000001 T 0.55162 0.1903 M 0.73598 2.24 0.54753 D 0.999986 B;B 0.31009 0.303;0.303 B;B 0.35899 0.213;0.213 T 0.59606 -0.7423 10 0.52906 T 0.07 -42.2769 11.4431 0.50109 1.0:0.0:0.0:0.0 . 392;392 C9JIF9;P13798 .;ACPH_HUMAN G 392 ENSP00000296456:D392G;ENSP00000415862:D392G ENSP00000296456:D392G D + 2 0 APEH 49692046 1.000000 0.71417 1.000000 0.80357 0.854000 0.48673 4.777000 0.62361 1.919000 0.55581 0.379000 0.24179 GAC APEH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346415.2 + ENST00000296456.5 Missense_Mutation SNP PCPG-TCGA-QR-A705-Normal-SM-5EQFM KAL1 3730 broad.mit.edu 37 X 8536370 8536370 + Silent SNP A A G TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chrX:8536370A>G ENST00000262648.3 - 8.0 1259 c.1110T>C c.(1108-1110)taT>taC p.Y370Y NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 370.0 Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}. axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935) extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867) breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32.0 ATTCCACAACATAGTCACAGT 0.443 0 162.0 103.0 123.0 X 8536370.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS14130.1 Xp22.32 2013-02-11 ENSG00000011201 ENSG00000011201 3730.0 3730.0 """WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing""" 6211.0 protein-coding gene gene with protein product """anosmin-1"", ""WAP four-disulfide core domain 19""" 300836.0 KAL, ADMLX 11463336 Standard NM_000216 NM_000216 Approved KALIG-1, WFDC19 uc004csf.3 P23352 OTTHUMG00000021107 ENST00000262648.3:c.1110T>C X.__UNKNOWN__:g.8536370A>G B2RPF8 __UNKNOWN__ CCDS14130.1 KAL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055692.1 - ENST00000262648.3 Silent SNP PCPG-TCGA-QR-A705-Normal-SM-5EQFM ZEB1 6935 broad.mit.edu 37 10 31812941 31812941 + Missense_Mutation SNP G G T TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr10:31812941G>T ENST00000320985.10 + 8.0 2792 c.2682G>T c.(2680-2682)aaG>aaT p.K894N ZEB1_ENST00000361642.5_Missense_Mutation_p.K895N|ZEB1_ENST00000560721.2_Missense_Mutation_p.K874N|ZEB1_ENST00000446923.2_Missense_Mutation_p.K878N|ZEB1_ENST00000542815.3_Missense_Mutation_p.K827N P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 894.0 cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) 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) 77.0 Prostate(175;0.0156) CGCCCAAAAAGAAAATGCGGA 0.378 Ovarian(40;423 959 14296 36701 49589) 0 102.0 102.0 102.0 10 31812941.0 2203.0 4300.0 6503.0 SO:0001583 missense AK091478 CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1 10p11.22 2014-02-14 2007-02-15 2007-02-15 ENSG00000148516 ENSG00000148516 6935.0 6935.0 """Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class""" 11642.0 protein-coding gene gene with protein product 189909.0 """transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3""" TCF8, PPCD3 1427828, 1840704, 15384081, 16252232 Standard NM_030751 NM_001128128 Approved BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6 uc001ivu.4 P37275 OTTHUMG00000017907 ENST00000320985.10:c.2682G>T 10.__UNKNOWN__:g.31812941G>T ENSP00000319248:p.Lys894Asn B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68 __UNKNOWN__ CCDS7169.1 . . . . . . . . . . G 23.4 4.411449 0.83340 . . ENSG00000148516 ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923 T;T;T;T;T 0.04654 3.58;3.58;3.58;3.58;3.58 5.72 4.82 0.62117 . 0.206483 0.34025 N 0.004340 T 0.17280 0.0415 M 0.62723 1.935 0.80722 D 1 D;D;D;D;D 0.89917 1.0;0.999;0.972;0.999;0.999 D;D;P;D;D 0.97110 1.0;0.991;0.76;0.991;0.991 T 0.00230 -1.1897 10 0.62326 D 0.03 -21.4158 11.3922 0.49822 0.1558:0.0:0.8442:0.0 . 827;878;874;895;894 F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275 .;.;.;.;ZEB1_HUMAN N 676;894;895;889;827;894;874;785;878 ENSP00000444282:K676N;ENSP00000354487:K895N;ENSP00000444891:K827N;ENSP00000319248:K894N;ENSP00000391612:K878N ENSP00000319248:K894N K + 3 2 ZEB1 31852947 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 7.976000 0.88070 1.441000 0.47550 0.585000 0.79938 AAG ZEB1-018 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000419083.2 + ENST00000320985.10 Missense_Mutation SNP PCPG-TCGA-QR-A705-Normal-SM-5EQFM SLC17A1 6568 broad.mit.edu 37 6 25799051 25799051 + Missense_Mutation SNP G G T TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr6:25799051G>T ENST00000244527.4 - 12.0 1481 c.1366C>A c.(1366-1368)Cag>Aag p.Q456K SLC17A1_ENST00000476801.1_Missense_Mutation_p.Q456K|SLC17A1_ENST00000427328.1_Missense_Mutation_p.Q402K|SLC17A1_ENST00000468082.1_Missense_Mutation_p.Q402K NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 456.0 ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36.0 GCCCAGTCCTGAATTTCTGCT 0.428 0 116.0 110.0 112.0 6 25799051.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS4565.1 6p22.2 2013-07-18 2013-07-18 ENSG00000124568 ENSG00000124568 6568.0 6568.0 """Solute carriers""" 10929.0 protein-coding gene gene with protein product 182308.0 """solute carrier family 17 (sodium phosphate), member 1""" NPT1 8288239 Standard NM_005074 Approved NAPI-1 uc003nfh.4 Q14916 OTTHUMG00000016297 ENST00000244527.4:c.1366C>A 6.__UNKNOWN__:g.25799051G>T ENSP00000244527:p.Gln456Lys A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8 __UNKNOWN__ CCDS4565.1 . . . . . . . . . . G 17.89 3.500154 0.64298 . . ENSG00000124568 ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082 T;T;T;T 0.54675 0.56;0.56;0.56;0.56 3.97 3.97 0.46021 Major facilitator superfamily domain, general substrate transporter (1); 0.000000 0.35585 N 0.003108 T 0.72104 0.3419 M 0.93016 3.37 0.37866 D 0.929891 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 T 0.79262 -0.1876 10 0.87932 D 0 . 11.7678 0.51941 0.0:0.0:1.0:0.0 . 402;456 Q14916-2;Q14916 .;NPT1_HUMAN K 456;402;456;402 ENSP00000244527:Q456K;ENSP00000410549:Q402K;ENSP00000420614:Q456K;ENSP00000420546:Q402K ENSP00000244527:Q456K Q - 1 0 SLC17A1 25907030 0.995000 0.38212 0.994000 0.49952 0.792000 0.44763 3.863000 0.56016 2.216000 0.71823 0.655000 0.94253 CAG SLC17A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043647.2 - ENST00000244527.4 Missense_Mutation SNP PCPG-TCGA-QR-A705-Normal-SM-5EQFM PRUNE2 158471 broad.mit.edu 37 9 79267432 79267432 + Missense_Mutation SNP C C T TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr9:79267432C>T ENST00000376718.3 - 11.0 8647 c.8524G>A c.(8524-8526)Gat>Aat p.D2842N PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000223609.6_Missense_Mutation_p.D106N|PRUNE2_ENST00000428286.1_Missense_Mutation_p.D2483N|PRUNE2_ENST00000443509.2_Missense_Mutation_p.D91N NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2842.0 apoptotic process (GO:0006915) cytoplasm (GO:0005737) metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462) endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16.0 TCTGCTTCATCGGGGGTATCA 0.393 0 255.0 235.0 241.0 9 79267432.0 1568.0 3582.0 5150.0 SO:0001583 missense BC019095 CCDS47982.1 9q21.32 2013-04-29 2006-11-24 2006-11-24 ENSG00000106772 ENSG00000106772 158471.0 158471.0 25209.0 protein-coding gene gene with protein product """olfaxin""" 610691.0 """chromosome 9 open reading frame 65"", ""KIAA0367""" C9orf65, KIAA0367 16288218 Standard NM_138818 NM_015225 Approved BMCC1, BNIPXL, A214N16.3, bA214N16.3 uc010mpk.3 Q8WUY3 OTTHUMG00000020047 ENST00000376718.3:c.8524G>A 9.__UNKNOWN__:g.79267432C>T ENSP00000365908:p.Asp2842Asn B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665 __UNKNOWN__ CCDS47982.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 27.6|27.6 4.844204|4.844204 0.91197|0.91197 .|. .|. ENSG00000106772|ENSG00000106772 ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000424866;ENST00000223609;ENST00000422033|ENST00000426088 T;T;T;T;T;T|. 0.60171|. 0.67;0.6;0.46;0.78;0.21;0.7|. 5.6|5.6 5.6|5.6 0.85130|0.85130 .|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.78704|0.78704 0.4325|0.4325 M|M 0.78801|0.78801 2.425|2.425 0.80722|0.80722 D|D 1|1 D;D;D;D;D|. 0.89917|. 1.0;0.998;1.0;0.989;1.0|. D;D;D;P;D|. 0.97110|. 0.993;0.951;0.991;0.882;1.0|. T|T 0.77574|0.77574 -0.2537|-0.2537 10|5 0.31617|. T|. 0.26|. -29.0138|-29.0138 19.9659|19.9659 0.97266|0.97266 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 106;106;91;2842;2842|. B4DSQ3;Q8WUY3-5;B4DJW7;Q8WUY3-3;Q8WUY3|. .;.;.;.;PRUN2_HUMAN|. N|Q 106;2842;2483;60;91;12;106;2841|2163 ENSP00000365907:D106N;ENSP00000365908:D2842N;ENSP00000397425:D2483N;ENSP00000393843:D91N;ENSP00000393657:D12N;ENSP00000223609:D106N|. ENSP00000223609:D106N|. D|R -|- 1|2 0|0 PRUNE2|PRUNE2 78457252|78457252 1.000000|1.000000 0.71417|0.71417 0.999000|0.999000 0.59377|0.59377 0.627000|0.627000 0.37826|0.37826 5.656000|5.656000 0.67988|0.67988 2.802000|2.802000 0.96397|0.96397 0.650000|0.650000 0.86243|0.86243 GAT|CGA PRUNE2-003 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052730.2 - ENST00000376718.3 Missense_Mutation SNP PCPG-TCGA-QR-A705-Normal-SM-5EQFM FBXO32 114907 broad.mit.edu 37 8 124526522 124526522 + Missense_Mutation SNP G G C TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr8:124526522G>C ENST00000517956.1 - 5.0 615 c.424C>G c.(424-426)Caa>Gaa p.Q142E FBXO32_ENST00000443022.2_Intron NM_058229.3|NM_148177.2 NP_478136.1|NP_680482.1 Q969P5 FBX32_HUMAN F-box protein 32 142.0 cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894) nucleolus (GO:0005730)|Z disc (GO:0030018) autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1) 21.0 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) AAGTTCTTTTGGGCGATGCCA 0.443 0 80.0 67.0 71.0 8 124526522.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ420108 CCDS6345.1, CCDS56553.1 8q24.13 2008-01-28 2004-06-15 ENSG00000156804 ENSG00000156804 114907.0 114907.0 """F-boxes / ""other""""" 16731.0 protein-coding gene gene with protein product 606604.0 """F-box only protein 32""" 11679633, 11717410 Standard NM_058229 Approved MAFbx, ATROGIN1, Fbx32 uc003yqr.3 Q969P5 OTTHUMG00000164981 ENST00000517956.1:c.424C>G 8.__UNKNOWN__:g.124526522G>C ENSP00000428205:p.Gln142Glu A4KYM0 __UNKNOWN__ CCDS6345.1 . . . . . . . . . . G 29.1 4.976027 0.92982 . . ENSG00000156804 ENST00000517956 T 0.19105 2.17 5.57 5.57 0.84162 . 0.000000 0.85682 D 0.000000 T 0.55721 0.1938 M 0.89095 3.005 0.80722 D 1 D 0.76494 0.999 D 0.77557 0.99 T 0.62224 -0.6899 10 0.59425 D 0.04 -5.9057 19.5555 0.95345 0.0:0.0:1.0:0.0 . 142 Q969P5 FBX32_HUMAN E 142 ENSP00000428205:Q142E ENSP00000428205:Q142E Q - 1 0 FBXO32 124595703 1.000000 0.71417 1.000000 0.80357 0.981000 0.71138 9.869000 0.99810 2.619000 0.88677 0.491000 0.48974 CAA FBXO32-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381281.1 - ENST00000517956.1 Missense_Mutation SNP PCPG-TCGA-QR-A705-Normal-SM-5EQFM TOR1A 1861 broad.mit.edu 37 9 132576411 132576411 + Missense_Mutation SNP C C A TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr9:132576411C>A ENST00000351698.4 - 5.0 887 c.839G>T c.(838-840)tGt>tTt p.C280F NM_000113.2 NP_000104.1 O14656 TOR1A_HUMAN torsin family 1, member A (torsin A) 280.0 Interaction with KLC1. ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319) cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20.0 Ovarian(14;0.00556) CACTCGGATACACATTTTTAG 0.453 0 179.0 171.0 174.0 9 132576411.0 2203.0 4300.0 6503.0 SO:0001583 missense AF007871 CCDS6930.1 9q32-q34 2008-07-21 2004-11-24 2004-11-26 ENSG00000136827 ENSG00000136827 1861.0 1861.0 3098.0 protein-coding gene gene with protein product 605204.0 """dystonia 1, torsion (autosomal dominant; torsin A)""" DYT1 10644435 Standard NM_000113 NM_000113 Approved DQ2 uc004byl.3 O14656 OTTHUMG00000020794 ENST00000351698.4:c.839G>T 9.__UNKNOWN__:g.132576411C>A ENSP00000345719:p.Cys280Phe B2RB58|Q53Y64|Q96CA0 __UNKNOWN__ CCDS6930.1 . . . . . . . . . . C 21.1 4.090895 0.76756 . . ENSG00000136827 ENST00000427355;ENST00000351698 T 0.39056 1.1 5.27 5.27 0.74061 . 0.000000 0.85682 D 0.000000 T 0.75049 0.3797 H 0.94222 3.51 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.83054 -0.0151 10 0.87932 D 0 -10.6772 17.8532 0.88754 0.0:1.0:0.0:0.0 . 280 O14656 TOR1A_HUMAN F 249;280 ENSP00000345719:C280F ENSP00000345719:C280F C - 2 0 TOR1A 131616232 1.000000 0.71417 0.994000 0.49952 0.604000 0.37047 7.487000 0.81328 2.439000 0.82584 0.561000 0.74099 TGT TOR1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054611.1 - ENST00000351698.4 Missense_Mutation SNP PCPG-TCGA-QR-A705-Normal-SM-5EQFM ABCC10 89845 broad.mit.edu 37 6 43415432 43415432 + Missense_Mutation SNP G G A TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr6:43415432G>A ENST00000372530.4 + 18.0 3931 c.3716G>A c.(3715-3717)gGc>gAc p.G1239D ABCC10_ENST00000244533.3_Missense_Mutation_p.G1211D NM_001198934.1 NP_001185863.1 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 1239.0 transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626) 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) 56.0 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) Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541) CTGGGCACCGGCTGGCTGACC 0.632 0 145.0 172.0 163.0 6 43415432.0 2203.0 4298.0 6501.0 SO:0001583 missense U66684 CCDS4896.1, CCDS56430.1 6p12.3 2012-03-14 ENSG00000124574 ENSG00000124574 89845.0 89845.0 """ATP binding cassette transporters / subfamily C""" 52.0 protein-coding gene gene with protein product 612509.0 8894702 Standard NM_033450 NM_033450 Approved EST182763, MRP7, SIMRP7 uc003ouy.1 Q5T3U5 OTTHUMG00000014733 ENST00000372530.4:c.3716G>A 6.__UNKNOWN__:g.43415432G>A ENSP00000361608:p.Gly1239Asp Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48 __UNKNOWN__ CCDS56430.1 . . . . . . . . . . G 9.049 0.991602 0.18966 . . ENSG00000124574 ENST00000372530;ENST00000244533 D;D 0.90900 -2.74;-2.75 5.61 4.74 0.60224 . 0.479972 0.23496 N 0.047559 T 0.60327 0.2260 N 0.12746 0.255 0.34207 D 0.673873 B;B 0.11235 0.001;0.004 B;B 0.10450 0.005;0.004 T 0.51458 -0.8703 10 0.02654 T 1 -22.9541 5.3476 0.16018 0.2734:0.0:0.7266:0.0 . 1211;1239 Q5T3U5-2;Q5T3U5 .;MRP7_HUMAN D 1239;1211 ENSP00000361608:G1239D;ENSP00000244533:G1211D ENSP00000244533:G1211D G + 2 0 ABCC10 43523410 0.921000 0.31238 0.967000 0.41034 0.517000 0.34286 1.539000 0.36104 2.641000 0.89580 0.591000 0.81541 GGC ABCC10-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040603.2 + ENST00000372530.4 Missense_Mutation SNP PCPG-TCGA-QR-A705-Normal-SM-5EQFM FCN1 2219 broad.mit.edu 37 9 137804991 137804991 + Splice_Site SNP T T A TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr9:137804991T>A ENST00000371806.3 - 6.0 432 c.e6-2 NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484) collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232) antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329) endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37.0 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) TGCGTGGGCCTGGGAAGGGAA 0.682 0 36.0 35.0 35.0 9 137804991.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant D83920 CCDS6985.1 9q34 2013-02-06 2002-01-14 ENSG00000085265 ENSG00000085265 2219.0 2219.0 """Fibrinogen C domain containing""" 3623.0 protein-coding gene gene with protein product 601252.0 """ficolin (collagen/fibrinogen domain-containing) 1""" 8573080, 8884275 Standard NM_002003 NM_002003 Approved FCNM uc004cfi.3 O00602 OTTHUMG00000020895 ENST00000371806.3:c.341-2A>T 9.__UNKNOWN__:g.137804991T>A Q5VYV5|Q92596 __UNKNOWN__ CCDS6985.1 . . . . . . . . . . T 12.14 1.848383 0.32699 . . ENSG00000085265 ENST00000371807;ENST00000371806;ENST00000308299 . . . 3.39 3.39 0.38822 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 10.0713 0.42335 0.0:0.0:0.0:1.0 . . . . . -1 . . . - . . FCN1 136944812 0.924000 0.31332 0.195000 0.23364 0.010000 0.07245 3.702000 0.54800 1.534000 0.49203 0.448000 0.29417 . FCN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054963.1 Intron - ENST00000371806.3 Splice_Site SNP PCPG-TCGA-QR-A705-Normal-SM-5EQFM KIAA0141 9812 broad.mit.edu 37 5 141309157 141309157 + Silent SNP A A G TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr5:141309157A>G ENST00000432126.2 + 5.0 557 c.423A>G c.(421-423)caA>caG p.Q141Q KIAA0141_ENST00000194118.4_Silent_p.Q141Q NM_001142603.1|NM_014773.3 NP_001136075.1|NP_055588.3 Q14154 DELE_HUMAN KIAA0141 141.0 extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281) mitochondrion (GO:0005739) endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3) 16.0 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACTGCGACAACACATCCTCC 0.632 0 69.0 72.0 71.0 5 141309157.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC011269 CCDS4268.1 5q31 2011-05-05 ENSG00000081791 ENSG00000081791 9812.0 9812.0 28969.0 protein-coding gene gene with protein product """death ligand signal enhancer""" 615741.0 20563667 Standard NM_014773 XM_005268549 Approved DELE uc003llt.3 Q14154 OTTHUMG00000129662 ENST00000432126.2:c.423A>G 5.__UNKNOWN__:g.141309157A>G Q969R4|Q96EU9 __UNKNOWN__ CCDS4268.1 KIAA0141-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251863.2 + ENST00000432126.2 Silent SNP PCPG-TCGA-QR-A705-Normal-SM-5EQFM MBLAC2 153364 broad.mit.edu 37 5 89770075 89770076 + Frame_Shift_Del DEL AG AG - TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr5:89770075_89770076delAG ENST00000316610.6 - 1.0 509_510 c.34_35delCT c.(34-36)ctafs p.L12fs MBLAC2_ENST00000514906.1_Frame_Shift_Del_p.L12fs NM_203406.1 NP_981951 Q68D91 MBLC2_HUMAN metallo-beta-lactamase domain containing 2 12.0 extracellular vesicular exosome (GO:0070062) hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) kidney(1)|liver(1)|lung(3) 5.0 ACCATCGCCTAGAGACTTGTGG 0.619 0 SO:0001589 frameshift_variant BC038230 CCDS4067.1 5q14.3 2009-04-08 2009-04-08 ENSG00000176055 ENSG00000176055 153364.0 153364.0 33711.0 protein-coding gene gene with protein product Standard NM_203406 NM_203406 Approved DKFZp686P15118, MGC46734 uc003kjp.3 Q68D91 OTTHUMG00000131327 ENST00000316610.6:c.34_35delCT 5.__UNKNOWN__:g.89770077_89770078delAG ENSP00000314776:p.Leu12fs D6RJI1|Q8IY16|Q8N8D8 __UNKNOWN__ CCDS4067.1 MBLAC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254098.2 - ENST00000316610.6 Frame_Shift_Del DEL PCPG-TCGA-QR-A705-Normal-SM-5EQFM RGS12 6002 broad.mit.edu 37 4 3441319 3441319 + Frame_Shift_Del DEL G G - TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr4:3441319delG ENST00000344733.5 + 18.0 5156 c.4252delG c.(4252-4254)gggfs p.G1418fs RGS12_ENST00000338806.4_Frame_Shift_Del_p.G770fs NM_198229.2 NP_937872.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1418.0 positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057) 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) 43.0 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGCCAGTGGTGGGCCTCCTAC 0.667 0 30.0 29.0 29.0 4 3441319.0 2201.0 4295.0 6496.0 SO:0001589 frameshift_variant AF035152 CCDS3366.1, CCDS3367.1, CCDS3368.1 4p16.3 2008-02-05 2007-08-14 ENSG00000159788 ENSG00000159788 6002.0 6002.0 """Regulators of G-protein signaling""" 9994.0 protein-coding gene gene with protein product 602512.0 """regulator of G-protein signalling 12""" 9651375 Standard NM_002926 NM_198229 Approved uc003ggw.3 O14924 OTTHUMG00000090277 ENST00000344733.5:c.4252delG 4.__UNKNOWN__:g.3441319delG ENSP00000339381:p.Gly1418fs B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95 __UNKNOWN__ CCDS3366.1 RGS12-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000206602.1 + ENST00000344733.5 Frame_Shift_Del DEL PCPG-TCGA-QR-A705-Normal-SM-5EQFM Unknown 100132510 bcgsc.ca 37 5 161178708 161178708 + RNA SNP A A G TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr5:161178708A>G GABRA6 (49110 upstream) : GABRA1 (95488 downstream) CAGTATGGACAGGTGGGCTTG 0.512 0 124.0 112.0 116.0 5 161178708.0 876.0 1991.0 2867.0 SO:0001628 intergenic_variant 5.__UNKNOWN__:g.161178708A>G __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A705-Normal-SM-5EQFM Unknown 440672 bcgsc.ca 37 1 145139229 145139229 + RNA SNP A A G TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr1:145139229A>G SEC22B (22307 upstream) : RNU6-1071P (10510 downstream) CTTCCTTCCAATATTAACAGA 0.388 OREG0013744 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001628 intergenic_variant 1.__UNKNOWN__:g.145139229A>G 1692.0 __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A705-Normal-SM-5EQFM Unknown 645668 bcgsc.ca 37 17 25410410 25410410 + RNA SNP C C T TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr17:25410410C>T RP11-260A9.6 (83459 upstream) : RP11-663N22.1 (154474 downstream) GACAGTAGAGCCTACAATGAC 0.552 0 SO:0001628 intergenic_variant 17.__UNKNOWN__:g.25410410C>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A705-Normal-SM-5EQFM ERF 2077 ucsc.edu 37 19 42754677 42754677 + Silent SNP G G A TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr19:42754677G>A ENST00000222329.4 - 2.0 220 c.63C>T c.(61-63)tcC>tcT p.S21S ERF_ENST00000440177.2_5'UTR|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'UTR NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 21.0 cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707) cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714) central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17.0 Prostate(69;0.00682) TTGAGCCAGGGGACGACTCTG 0.642 0 50.0 43.0 45.0 19 42754677.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U58535 CCDS12600.1 19q13 2008-07-16 ENSG00000105722 2077.0 2077.0 3444.0 protein-coding gene gene with protein product """Ets2 repressor factor""" 611888 7588608, 9192842 Standard NM_006494 XM_005258644 Approved PE-2, PE2 uc002ote.4 P50548 ENST00000222329.4:c.63C>T 19.__UNKNOWN__:g.42754677G>A B2RAP1|B7Z4R0|Q59G38|Q9UPI7 __UNKNOWN__ CCDS12600.1 ERF-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463684.1 - ENST00000222329.4 Silent SNP PCPG-TCGA-QR-A705-Normal-SM-5EQFM RASGRP2 10235 broad.mit.edu 37 11 64494798 64494798 + Missense_Mutation SNP A A T TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr11:64494798A>T ENST00000354024.3 - 16.0 2058 c.1806T>A c.(1804-1806)gaT>gaA p.D602E RASGRP2_ENST00000377494.1_Missense_Mutation_p.D603E|RASGRP2_ENST00000394432.3_Missense_Mutation_p.D602E|RASGRP2_ENST00000377497.3_Missense_Mutation_p.D602E NM_153819.1 NP_722541.1 Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 602.0 blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165) cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202) calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24.0 CAAACACCCCATCCTCCACCG 0.592 0 148.0 106.0 120.0 11 64494798.0 2201.0 4297.0 6498.0 SO:0001583 missense U78170 CCDS31598.1 11q13 2014-09-17 ENSG00000068831 ENSG00000068831 10235.0 10235.0 """EF-hand domain containing""" 9879.0 protein-coding gene gene with protein product 605577.0 9789079 Standard NM_153819 NM_001098670 Approved CALDAG-GEFI uc009ypv.3 Q7LDG7 OTTHUMG00000045420 ENST00000354024.3:c.1806T>A 11.__UNKNOWN__:g.64494798A>T ENSP00000338864:p.Asp602Glu A6NDC7|O00538|Q9UL65 __UNKNOWN__ CCDS31598.1 . . . . . . . . . . A 10.60 1.394853 0.25205 . . ENSG00000068831 ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024 T;T;T;T 0.71579 -0.57;-0.58;-0.58;-0.58 5.54 -11.1 0.00147 . 0.377447 0.26130 N 0.026177 T 0.50514 0.1620 N 0.14661 0.345 0.80722 D 1 B;B 0.20261 0.043;0.043 B;B 0.15870 0.014;0.014 T 0.42464 -0.9450 10 0.72032 D 0.01 -24.3728 23.5442 0.99984 0.2015:0.0:0.7985:0.0 . 602;603 Q7LDG7;A6NDC7 GRP2_HUMAN;. E 603;602;602;602 ENSP00000366714:D603E;ENSP00000377953:D602E;ENSP00000366717:D602E;ENSP00000338864:D602E ENSP00000338864:D602E D - 3 2 RASGRP2 64251374 0.000000 0.05858 0.049000 0.19019 0.226000 0.24999 -4.331000 0.00251 -2.635000 0.00432 -0.411000 0.06167 GAT RASGRP2-002 NOVEL alternative_5_UTR|basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000142062.1 - ENST00000354024.3 Missense_Mutation SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI GBA 2629 broad.mit.edu 37 1 155207218 155207218 + Missense_Mutation SNP G G A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr1:155207218G>A ENST00000327247.5 - 8.0 1145 c.913C>T c.(913-915)Cct>Tct p.P305S GBA_ENST00000536770.1_Missense_Mutation_p.P192S|GBA_ENST00000427500.3_Missense_Mutation_p.P256S|GBA_ENST00000428024.3_Missense_Mutation_p.P218S|GBA_ENST00000368373.3_Missense_Mutation_p.P305S NM_001005741.2|NM_001005742.2 NP_001005741.1|NP_001005742.1 P04062 GLCM_HUMAN glucosidase, beta, acid 305.0 P -> R (in GD; mild). carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021) extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765) glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26.0 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Velaglucerase alfa(DB06720) GCGAGGGTAGGACCTAGGTCA 0.572 Gaucher disease type I 0 GRCh37 CM057095 GBA M 145.0 118.0 127.0 1 155207218.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database glucocerebrosidase insufficiency M19285 CCDS1102.1, CCDS53373.1, CCDS53374.1 1q22 2010-01-19 2010-01-19 ENSG00000177628 ENSG00000177628 2629.0 2629.0 3.2.1.21 4177.0 protein-coding gene gene with protein product 606463.0 """glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)""" GLUC 3359914 Standard NM_000157 NM_001005742 Approved GBA1 uc001fjl.3 P04062 OTTHUMG00000035841 ENST00000327247.5:c.913C>T 1.__UNKNOWN__:g.155207218G>A ENSP00000314508:p.Pro305Ser A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8 __UNKNOWN__ CCDS1102.1 . . . . . . . . . . . 17.50 3.404367 0.62288 . . ENSG00000177628 ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928 D;D;D;D;D 0.99695 -6.43;-6.43;-6.43;-6.43;-6.43 3.51 3.51 0.40186 Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1); 0.000000 0.64402 D 0.000001 D 0.99687 0.9882 M 0.91717 3.235 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.999;0.996;0.998 D 0.97680 1.0172 10 0.87932 D 0 -11.7654 10.6675 0.45739 0.0:0.0:1.0:0.0 . 256;192;305 B7Z5G2;F5H241;P04062 .;.;GLCM_HUMAN S 256;218;305;305;192;262;290 ENSP00000402577:P256S;ENSP00000397986:P218S;ENSP00000357357:P305S;ENSP00000314508:P305S;ENSP00000445560:P192S ENSP00000314508:P305S P - 1 0 GBA 153473842 1.000000 0.71417 0.812000 0.32479 0.492000 0.33523 8.739000 0.91574 1.948000 0.56530 0.313000 0.20887 CCT GBA-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087204.1 - ENST00000327247.5 Missense_Mutation SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI KLHL42 57542 broad.mit.edu 37 12 27950726 27950726 + Missense_Mutation SNP G G A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr12:27950726G>A ENST00000381271.2 + 3.0 1456 c.1145G>A c.(1144-1146)cGc>cAc p.R382H NM_020782.1 NP_065833.1 Q9P2K6 KLH42_HUMAN kelch-like family member 42 382.0 mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886) Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) GTCCACATTCGCAAGCAGCAG 0.542 0 159.0 154.0 156.0 12 27950726.0 2203.0 4300.0 6503.0 SO:0001583 missense AB037761 CCDS31763.1 12p11.22 2013-04-24 2013-02-22 2013-01-30 ENSG00000087448 ENSG00000087448 57542.0 57542.0 """Kelch-like""" 29252.0 protein-coding gene gene with protein product """kelch domain containing 5""" KLHDC5 19261606 Standard NM_020782 NM_020782 Approved KIAA1340, Ctb9 uc001rij.3 Q9P2K6 OTTHUMG00000169217 ENST00000381271.2:c.1145G>A 12.__UNKNOWN__:g.27950726G>A ENSP00000370671:p.Arg382His Q2VPK1|Q8N334 __UNKNOWN__ CCDS31763.1 . . . . . . . . . . G 24.5 4.536505 0.85812 . . ENSG00000087448 ENST00000381271 T 0.67523 -0.27 5.29 5.29 0.74685 Kelch-type beta propeller (1); 0.000000 0.85682 D 0.000000 T 0.78616 0.4311 M 0.61703 1.905 0.80722 D 1 D 0.89917 1.0 D 0.83275 0.996 T 0.73297 -0.4027 10 0.15066 T 0.55 . 17.9151 0.88947 0.0:0.0:1.0:0.0 . 382 Q9P2K6 KLDC5_HUMAN H 382 ENSP00000370671:R382H ENSP00000370671:R382H R + 2 0 KLHDC5 27841993 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 9.193000 0.94954 2.452000 0.82932 0.561000 0.74099 CGC KLHL42-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402904.1 + ENST00000381271.2 Missense_Mutation SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI DMC1 11144 broad.mit.edu 37 22 38916082 38916082 + Silent SNP A A T TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr22:38916082A>T ENST00000216024.2 - 14.0 1242 c.966T>A c.(964-966)ccT>ccA p.P322P DMC1_ENST00000428462.2_Silent_p.P267P NM_007068.2 NP_008999.2 Q14565 DMC1_HUMAN DNA meiotic recombinase 1 322.0 female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129) chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094) large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11.0 Melanoma(58;0.0286) CTTCATTTTCAGGCATCTCAG 0.403 Homologous recombination 0 107.0 99.0 102.0 22 38916082.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D63882 CCDS13973.1, CCDS63477.1 22q13.1 2013-05-02 2013-05-02 ENSG00000100206 ENSG00000100206 11144.0 11144.0 2927.0 protein-coding gene gene with protein product 602721.0 """DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)""" 8602360, 8590282, 17541404 Standard NM_007068 NM_007068 Approved LIM15 uc003avz.2 Q14565 OTTHUMG00000151088 ENST00000216024.2:c.966T>A 22.__UNKNOWN__:g.38916082A>T A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11 __UNKNOWN__ CCDS13973.1 DMC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000321246.2 - ENST00000216024.2 Silent SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI CAMTA1 23261 broad.mit.edu 37 1 7725039 7725039 + Missense_Mutation SNP G G A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr1:7725039G>A ENST00000303635.7 + 9.0 2639 c.2432G>A c.(2431-2433)cGg>cAg p.R811Q CAMTA1_ENST00000439411.2_Missense_Mutation_p.R811Q NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 811.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85.0 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GACGGGGCGCGGGCCCCCTTC 0.687 T WWTR1 epitheliod hemangioendothelioma Dom yes 1 1p36.31-p36.23 611501.0 calmodulin binding transcription activator 1 M 0 66.0 81.0 76.0 1 7725039.0 2203.0 4296.0 6499.0 SO:0001583 missense AB020640 CCDS30576.1, CCDS55574.1, CCDS55575.1 1p36.31-p36.23 2008-07-18 ENSG00000171735 ENSG00000171735 23261.0 23261.0 18806.0 protein-coding gene gene with protein product 611501.0 11925432 Standard NM_015215 NM_001195563 Approved KIAA0833 uc001aoi.3 Q9Y6Y1 OTTHUMG00000001212 ENST00000303635.7:c.2432G>A 1.__UNKNOWN__:g.7725039G>A ENSP00000306522:p.Arg811Gln A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92 __UNKNOWN__ CCDS30576.1 . . . . . . . . . . g 10.48 1.360749 0.24598 . . ENSG00000171735 ENST00000303635;ENST00000439411 T;T 0.21543 2.0;2.0 5.14 5.14 0.70334 . 0.000000 0.85682 D 0.000000 T 0.34048 0.0884 L 0.47716 1.5 0.29915 N 0.823262 D 0.76494 0.999 D 0.72625 0.978 T 0.09122 -1.0689 10 0.14252 T 0.57 -16.616 12.0148 0.53307 0.0798:0.0:0.9202:0.0 . 811 Q9Y6Y1 CMTA1_HUMAN Q 811 ENSP00000306522:R811Q;ENSP00000402561:R811Q ENSP00000306522:R811Q R + 2 0 CAMTA1 7647626 1.000000 0.71417 0.337000 0.25536 0.388000 0.30384 9.067000 0.93955 2.406000 0.81754 0.478000 0.44815 CGG CAMTA1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000003588.3 + ENST00000303635.7 Missense_Mutation SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI HTT 3064 broad.mit.edu 37 4 3214432 3214432 + Missense_Mutation SNP T T G TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr4:3214432T>G ENST00000355072.5 + 49.0 6915 c.6770T>G c.(6769-6771)cTt>cGt p.L2257R NM_002111.6 NP_002102 P42858 HD_HUMAN huntingtin 2257.0 anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542) autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234) beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134) 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) 87.0 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GTGGCAACCCTTGAGGTAAGA 0.527 0 87.0 90.0 89.0 4 3214432.0 1986.0 4160.0 6146.0 SO:0001583 missense L12392 CCDS43206.1 4p16.3 2014-09-17 2007-12-04 2007-12-04 ENSG00000197386 ENSG00000197386 3064.0 3064.0 """Endogenous ligands""" 4851.0 protein-coding gene gene with protein product 613004.0 """huntingtin (Huntington disease)""" HD 8458085 Standard NM_002111 NM_002111 Approved IT15 uc021xkv.1 P42858 OTTHUMG00000159916 ENST00000355072.5:c.6770T>G 4.__UNKNOWN__:g.3214432T>G ENSP00000347184:p.Leu2257Arg Q9UQB7 __UNKNOWN__ CCDS43206.1 . . . . . . . . . . T 11.09 1.537812 0.27475 . . ENSG00000197386 ENST00000355072 T 0.09255 3.0 5.51 5.51 0.81932 . 0.467264 0.21529 N 0.073080 T 0.14960 0.0361 L 0.53249 1.67 0.09310 N 1 P 0.34837 0.472 B 0.35470 0.203 T 0.10268 -1.0637 10 0.87932 D 0 . 15.6241 0.76840 0.0:0.0:0.0:1.0 . 2257 P42858 HD_HUMAN R 2257 ENSP00000347184:L2257R ENSP00000347184:L2257R L + 2 0 HTT 3184230 0.303000 0.24463 0.029000 0.17559 0.362000 0.29581 3.928000 0.56506 2.083000 0.62718 0.496000 0.49642 CTT HTT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000358234.2 + ENST00000355072.5 Missense_Mutation SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI HIST1H2BD 3017 broad.mit.edu 37 6 26158564 26158564 + Missense_Mutation SNP C C G TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr6:26158564C>G ENST00000289316.2 + 1.0 191 c.167C>G c.(166-168)tCt>tGt p.S56C HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S56C NM_138720.2 NP_619790.1 P58876 H2B1D_HUMAN histone cluster 1, H2bd 56.0 chromatin organization (GO:0006325) extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634) DNA binding (GO:0003677) breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 24.0 ACCGGCATCTCTTCCAAGGCA 0.567 0 198.0 184.0 188.0 6 26158564.0 2203.0 4300.0 6503.0 SO:0001583 missense M60751 CCDS4587.1 6p22.1 2011-01-27 2006-10-11 2003-02-14 ENSG00000158373 ENSG00000158373 3017.0 3017.0 """Histones / Replication-dependent""" 4747.0 protein-coding gene gene with protein product 602799.0 """H2B histone family, member B"", ""histone 1, H2bd""" H2BFB 1916825, 12408966 Standard NM_021063 NM_021063 Approved H2B/b uc003ngr.3 P58876 OTTHUMG00000014426 ENST00000289316.2:c.167C>G 6.__UNKNOWN__:g.26158564C>G ENSP00000289316:p.Ser56Cys __UNKNOWN__ CCDS4587.1 . . . . . . . . . . . 17.37 3.371665 0.61624 . . ENSG00000158373 ENST00000377777;ENST00000289316 T;T 0.73789 -0.78;-0.78 5.19 4.3 0.51218 Histone-fold (2);Histone core (1); 0.000000 0.37906 N 0.001894 D 0.89146 0.6632 H 0.99626 4.665 0.39139 D 0.962005 D 0.65815 0.995 P 0.59221 0.854 D 0.92884 0.6325 10 0.87932 D 0 . 12.2024 0.54333 0.0:0.8519:0.0:0.1481 . 56 P58876 H2B1D_HUMAN C 56 ENSP00000367008:S56C;ENSP00000289316:S56C ENSP00000289316:S56C S + 2 0 HIST1H2BD 26266543 1.000000 0.71417 0.995000 0.50966 0.364000 0.29643 6.043000 0.71004 1.492000 0.48499 0.650000 0.86243 TCT HIST1H2BD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040088.1 + ENST00000289316.2 Missense_Mutation SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI MTM1 4534 broad.mit.edu 37 X 149807485 149807485 + Missense_Mutation SNP G G A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chrX:149807485G>A ENST00000370396.2 + 7.0 568 c.514G>A c.(514-516)Gaa>Aaa p.E172K MTM1_ENST00000542741.1_Missense_Mutation_p.E77K|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.E57K|MTM1_ENST00000413012.2_Missense_Mutation_p.E135K NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 172.0 Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}. endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726) intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725) 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) 26.0 Acute lymphoblastic leukemia(192;6.56e-05) TCCAGTGGAAGAATACAGGAG 0.353 0 204.0 180.0 188.0 X 149807485.0 2203.0 4300.0 6503.0 SO:0001583 missense U46024 CCDS14694.1 Xq27.3-q28 2014-09-17 ENSG00000171100 ENSG00000171100 4534.0 4534.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins""" 7448.0 protein-coding gene gene with protein product 300415.0 """myotubular myopathy 1""" Standard NM_000252 NM_000252 Approved uc004fef.4 Q13496 OTTHUMG00000024158 ENST00000370396.2:c.514G>A X.__UNKNOWN__:g.149807485G>A ENSP00000359423:p.Glu172Lys A6NDB1|B7Z491|F2Z330|Q8NEL1 __UNKNOWN__ CCDS14694.1 . . . . . . . . . . G 34 5.338184 0.95758 . . ENSG00000171100 ENST00000370396;ENST00000542741;ENST00000543350;ENST00000424519;ENST00000413012 D;D;D;D;D 0.97016 -3.77;-3.77;-3.77;-4.21;-3.77 5.27 5.27 0.74061 Myotubularin phosphatase domain (1); 0.000000 0.85682 D 0.000000 D 0.99089 0.9687 H 0.99325 4.515 0.58432 D 0.999999 D;D 0.89917 0.997;1.0 D;D 0.91635 0.983;0.999 D 0.99026 1.0819 10 0.87932 D 0 . 18.1936 0.89814 0.0:0.0:1.0:0.0 . 135;172 B7Z491;Q13496 .;MTM1_HUMAN K 172;77;57;101;135 ENSP00000359423:E172K;ENSP00000444015:E77K;ENSP00000439784:E57K;ENSP00000400699:E101K;ENSP00000389157:E135K ENSP00000359423:E172K E + 1 0 MTM1 149558143 1.000000 0.71417 0.999000 0.59377 0.971000 0.66376 9.127000 0.94417 2.321000 0.78463 0.594000 0.82650 GAA MTM1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060847.3 + ENST00000370396.2 Missense_Mutation SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI MAP1S 55201 broad.mit.edu 37 19 17831773 17831773 + Silent SNP C C T TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr19:17831773C>T ENST00000324096.4 + 2.0 298 c.147C>T c.(145-147)ggC>ggT p.G49G MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.G23G NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 49.0 Necessary for the microtubule-organizing center localization. apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202) actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631) 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) 25.0 TCGATCCTGGCGTCTGCAACC 0.572 0 144.0 128.0 133.0 19 17831773.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC067115 CCDS32954.1 19p13.12 2008-02-05 2006-07-04 2006-07-04 ENSG00000130479 55201.0 55201.0 15715.0 protein-coding gene gene with protein product 607573.0 """chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1""" C19orf5, VCY2IP1, BPY2IP1 11827465, 15528209, 16297881, 14627543 Standard NM_018174 NM_018174 Approved FLJ10669, MAP8 uc002nhe.1 Q66K74 ENST00000324096.4:c.147C>T 19.__UNKNOWN__:g.17831773C>T B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7 __UNKNOWN__ CCDS32954.1 MAP1S-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466027.1 + ENST00000324096.4 Silent SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI C17orf80 55028 broad.mit.edu 37 17 71232433 71232433 + Missense_Mutation SNP C C T TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr17:71232433C>T ENST00000535032.2 + 2.0 925 c.812C>T c.(811-813)cCa>cTa p.P271L C17orf80_ENST00000426147.2_Missense_Mutation_p.P271L|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000359042.2_Missense_Mutation_p.P271L|C17orf80_ENST00000255557.4_Missense_Mutation_p.P271L|C17orf80_ENST00000577615.1_Missense_Mutation_p.P271L|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.P271L Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 271.0 extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14.0 LUSC - Lung squamous cell carcinoma(166;0.197) ACTGAGACTCCAGAAAAGAAC 0.413 0 45.0 46.0 45.0 17 71232433.0 2203.0 4300.0 6503.0 SO:0001583 missense AY163812 CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1 17q25.1 2012-02-24 2012-02-24 2012-02-24 ENSG00000141219 ENSG00000141219 55028.0 55028.0 29601.0 protein-coding gene gene with protein product """sperm-expressed protein 1"", ""migration-inducing protein 3""" 12477932 Standard NM_017941 NM_017941 Approved HLC-8, MIG3, FLJ20721, SPEP1 uc002jjl.4 Q9BSJ5 ENST00000535032.2:c.812C>T 17.__UNKNOWN__:g.71232433C>T ENSP00000440551:p.Pro271Leu A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5 __UNKNOWN__ CCDS11694.1 . . . . . . . . . . C 8.917 0.960047 0.18507 . . ENSG00000141219 ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032 D;D;D;D;D 0.85171 -1.95;-1.95;-1.95;-1.95;-1.95 4.21 -2.73 0.05950 . 1.874850 0.02257 N 0.067186 T 0.66117 0.2757 N 0.08118 0 0.09310 N 1 B;B;B;B 0.11235 0.001;0.004;0.002;0.001 B;B;B;B 0.08055 0.002;0.003;0.003;0.003 T 0.51553 -0.8691 10 0.26408 T 0.33 2.3701 0.0473 0.00010 0.304:0.1709:0.2192:0.3058 . 271;271;271;271 B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3 .;CQ080_HUMAN;.;. L 271 ENSP00000255557:P271L;ENSP00000351937:P271L;ENSP00000268942:P271L;ENSP00000396970:P271L;ENSP00000440551:P271L ENSP00000255557:P271L P + 2 0 C17orf80 68744028 0.000000 0.05858 0.000000 0.03702 0.098000 0.18820 -1.598000 0.02087 -0.859000 0.04105 -0.410000 0.06199 CCA C17orf80-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000441893.1 + ENST00000535032.2 Missense_Mutation SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI OR1J1 347168 broad.mit.edu 37 9 125239396 125239396 + Silent SNP C C T TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr9:125239396C>T ENST00000259357.2 - 1.0 839 c.810G>A c.(808-810)aaG>aaA p.K270K NM_001004451.1 NP_001004451.1 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, member 1 270.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16.0 CAATTATGTTCTTGTCATTGG 0.418 0 158.0 152.0 154.0 9 125239396.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AL353767 CCDS35120.1 9q33.2 2013-09-20 ENSG00000136834 ENSG00000136834 347168.0 347168.0 """GPCR / Class A : Olfactory receptors""" 8208.0 protein-coding gene gene with protein product Standard NM_001004451 Approved hg32 uc011lyu.2 Q8NGS3 OTTHUMG00000020603 ENST00000259357.2:c.810G>A 9.__UNKNOWN__:g.125239396C>T A3KFL8|Q6IF10|Q96R88 __UNKNOWN__ CCDS35120.1 OR1J1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053931.1 - ENST00000259357.2 Silent SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI PRKCB 5579 broad.mit.edu 37 16 24104120 24104120 + Missense_Mutation SNP G G T TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr16:24104120G>T ENST00000482000.1 + 0.0 10 PRKCB_ENST00000321728.7_Missense_Mutation_p.A180S|PRKCB_ENST00000303531.7_Missense_Mutation_p.A180S P05771 KPCB_HUMAN protein kinase C, beta apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886) androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9.0 Tamoxifen(DB00675)|Vitamin E(DB00163) AGTAAGAGATGCTAAAAACCT 0.418 0 144.0 127.0 133.0 16 24104120.0 2197.0 4300.0 6497.0 SO:0001624 3_prime_UTR_variant M13975 CCDS10618.1, CCDS10619.1 16p12 2009-07-10 2008-08-18 2008-08-18 ENSG00000166501 ENSG00000166501 5579.0 5579.0 2.7.11.1 9395.0 protein-coding gene gene with protein product 176970.0 """protein kinase C, beta 1""" PRKCB2, PKCB, PRKCB1 3658678 Standard NM_212535 NM_002738 Approved uc002dme.3 P05771 OTTHUMG00000131615 ENST00000482000.1:c.*7G>T 16.__UNKNOWN__:g.24104120G>T C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33 __UNKNOWN__ . . . . . . . . . . G 33 5.224129 0.95139 . . ENSG00000166501 ENST00000321728;ENST00000303531 T;T 0.64085 -0.08;-0.08 5.18 5.18 0.71444 C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1); 0.065087 0.64402 D 0.000015 T 0.80701 0.4673 M 0.91872 3.25 0.80722 D 1 D;P 0.53619 0.961;0.759 P;P 0.59357 0.856;0.794 T 0.80188 -0.1486 10 0.21014 T 0.42 . 18.0382 0.89311 0.0:0.0:1.0:0.0 . 180;180 P05771-2;P05771 .;KPCB_HUMAN S 180 ENSP00000318315:A180S;ENSP00000305355:A180S ENSP00000305355:A180S A + 1 0 PRKCB 24011621 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 9.378000 0.97191 2.577000 0.86979 0.555000 0.69702 GCT PRKCB-006 PUTATIVE basic|exp_conf processed_transcript protein_coding OTTHUMT00000268353.1 + ENST00000482000.1 3'UTR SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI LEPREL1 55214 broad.mit.edu 37 3 189704595 189704595 + Silent SNP C C A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr3:189704595C>A ENST00000319332.5 - 6.0 1367 c.1170G>T c.(1168-1170)ggG>ggT p.G390G LEPREL1_ENST00000427335.2_Silent_p.G209G NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 390.0 collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511) basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794) iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797) 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) 41.0 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) TGTATGAAAACCCCAGACCTT 0.353 0 110.0 119.0 116.0 3 189704595.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS3294.1, CCDS46981.1 3q29 2014-01-28 ENSG00000090530 ENSG00000090530 55214.0 55214.0 1.14.11.7 19317.0 protein-coding gene gene with protein product """prolyl 3-hydroxylase 2""" 610341.0 15063763, 21885030 Standard NM_018192 NM_018192 Approved FLJ10718, MLAT4, P3H2 uc011bsk.2 Q8IVL5 OTTHUMG00000156312 ENST00000319332.5:c.1170G>T 3.__UNKNOWN__:g.189704595C>A B3KPK0|B3KWI9|D3DNV8|Q9NVI2 __UNKNOWN__ CCDS3294.1 LEPREL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000343855.1 - ENST00000319332.5 Silent SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI TRO 7216 broad.mit.edu 37 X 54949634 54949634 + Silent SNP G G A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chrX:54949634G>A ENST00000173898.7 + 3.0 781 c.669G>A c.(667-669)tcG>tcA p.S223S TRO_ENST00000319167.8_Silent_p.S223S|TRO_ENST00000375041.2_Intron|TRO_ENST00000375022.4_Silent_p.S223S|TRO_ENST00000484031.1_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Intron NM_001039705.2 NP_001034794.1 Q12816 TROP_HUMAN trophinin 223.0 embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308) cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37.0 CCGAGGTCTCGCTGGCTGCAA 0.522 0 48.0 52.0 50.0 X 54949634.0 2119.0 4204.0 6323.0 SO:0001819 synonymous_variant U04811 CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1 Xp11.22-p11.21 2008-02-05 ENSG00000067445 ENSG00000067445 7216.0 7216.0 12326.0 protein-coding gene gene with protein product 300132.0 9533028, 11454705 Standard NM_016157 NM_001039705 Approved MAGE-D3, KIAA1114, MAGED3 uc004dtq.4 Q12816 OTTHUMG00000021640 ENST00000173898.7:c.669G>A X.__UNKNOWN__:g.54949634G>A B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8 __UNKNOWN__ CCDS43959.1 TRO-008 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000056837.3 + ENST00000173898.7 Silent SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI OR4K15 81127 broad.mit.edu 37 14 20444562 20444562 + Silent SNP T T G TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr14:20444562T>G ENST00000305051.5 + 1.0 960 c.885T>G c.(883-885)ctT>ctG p.L295L NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 295.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39.0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) ACAAAGTCCTTGCTGTATTCT 0.418 0 126.0 120.0 122.0 14 20444562.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant CCDS32026.1 14q11.2 2013-09-23 ENSG00000169488 ENSG00000169488 81127.0 81127.0 """GPCR / Class A : Olfactory receptors""" 15353.0 protein-coding gene gene with protein product Standard NM_001005486 Approved OR4K15Q uc010tkx.2 Q8NH41 OTTHUMG00000170635 ENST00000305051.5:c.885T>G 14.__UNKNOWN__:g.20444562T>G B9EIL3|Q6IEZ4 __UNKNOWN__ CCDS32026.1 OR4K15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000409883.1 + ENST00000305051.5 Silent SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI AP4M1 9179 broad.mit.edu 37 7 99701079 99701079 + Silent SNP C C T TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr7:99701079C>T ENST00000359593.4 + 5.0 557 c.399C>T c.(397-399)ttC>ttT p.F133F AP4M1_ENST00000421755.1_Silent_p.F133F|AP4M1_ENST00000422582.1_Silent_p.F5F|AP4M1_ENST00000429084.1_Silent_p.F140F NM_004722.3 NP_004713.2 O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 133.0 Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802) transporter activity (GO:0005215) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17.0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGAGGAATTTCATCCAGACGG 0.517 Pancreas(174;1182 2812 29595 49511) 0 123.0 113.0 116.0 7 99701079.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant Y08387 CCDS5685.1 7q22.1 2012-06-29 ENSG00000221838 ENSG00000221838 9179.0 9179.0 574.0 protein-coding gene gene with protein product """mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit""" 602296.0 9013859, 10066790, 21620353 Standard NM_004722 NM_004722 Approved MU-ARP2, MU-4, SPG50 uc003utb.4 O00189 OTTHUMG00000154722 ENST00000359593.4:c.399C>T 7.__UNKNOWN__:g.99701079C>T D6W5U1|Q8WV65|Q9UHK9 __UNKNOWN__ CCDS5685.1 AP4M1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000336772.4 + ENST00000359593.4 Silent SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI CACNA2D4 93589 broad.mit.edu 37 12 2017138 2017138 + Silent SNP G G A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr12:2017138G>A ENST00000382722.5 - 5.0 914 c.552C>T c.(550-552)ggC>ggT p.G184G CACNA2D4_ENST00000585708.1_Silent_p.G120G|CACNA2D4_ENST00000585732.1_Silent_p.G184G|CACNA2D4_ENST00000587995.1_Silent_p.G184G|CACNA2D4_ENST00000586184.1_Silent_p.G184G|CACNA2D4_ENST00000588077.1_Silent_p.G120G NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 184.0 calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908) voltage-gated calcium channel complex (GO:0005891) metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39.0 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) GGAACTCGGCGCCCAGCTCCA 0.602 Colon(2;101 179 21030 23310 28141) 0 58.0 63.0 61.0 12 2017138.0 2109.0 4220.0 6329.0 SO:0001819 synonymous_variant AF516695 CCDS44785.1 12p13.33 2003-03-05 ENSG00000151062 ENSG00000151062 93589.0 93589.0 """Calcium channel subunits""" 20202.0 protein-coding gene gene with protein product 608171.0 12181424 Standard NM_172364 Approved uc021qsx.1 Q7Z3S7 OTTHUMG00000168111 ENST00000382722.5:c.552C>T 12.__UNKNOWN__:g.2017138G>A Q7Z3S8|Q86XZ5|Q8IZS9 __UNKNOWN__ CCDS44785.1 CACNA2D4-001 KNOWN non_canonical_U12|basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000398230.2 - ENST00000382722.5 Silent SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI TRPM1 4308 broad.mit.edu 37 15 31342749 31342749 + Missense_Mutation SNP C C A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr15:31342749C>A ENST00000256552.6 - 12.0 1447 c.1300G>T c.(1300-1302)Gcc>Tcc p.A434S TRPM1_ENST00000397795.2_Missense_Mutation_p.A412S|TRPM1_ENST00000542188.1_Missense_Mutation_p.A451S NM_001252024.1 NP_001238953.1 transient receptor potential cation channel, subfamily M, member 1 NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99.0 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TTCTCCGTGGCTTTGCTGTCC 0.557 0 93.0 91.0 92.0 15 31342749.0 1952.0 4141.0 6093.0 SO:0001583 missense AF071787 CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1 15q13.3 2014-01-28 2002-01-18 ENSG00000134160 ENSG00000134160 4308.0 4308.0 """Voltage-gated ion channels / Transient receptor potential cation channels""" 7146.0 protein-coding gene gene with protein product 603576.0 """melastatin 1""" MLSN1 9806836, 9537257, 16382100 Standard NM_002420 NM_001252020 Approved LTRPC1, CSNB1C uc021sia.1 Q7Z4N2 OTTHUMG00000129267 ENST00000256552.6:c.1300G>T 15.__UNKNOWN__:g.31342749C>A ENSP00000256552:p.Ala434Ser __UNKNOWN__ CCDS58346.1 . . . . . . . . . . C 0.804 -0.754389 0.03041 . . ENSG00000134160 ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793 T;T;T 0.52295 0.69;0.67;0.7 4.97 3.08 0.35506 . 1.583790 0.03430 N 0.207621 T 0.31295 0.0792 N 0.08118 0 0.09310 N 1 B;B 0.10296 0.003;0.002 B;B 0.14578 0.011;0.005 T 0.24297 -1.0164 10 0.49607 T 0.09 -1.0063 6.777 0.23624 0.0:0.7084:0.0:0.2915 . 406;412 Q7Z4N2-3;Q7Z4N2 .;TRPM1_HUMAN S 412;451;434;412 ENSP00000380897:A412S;ENSP00000437849:A451S;ENSP00000256552:A434S ENSP00000256552:A434S A - 1 0 TRPM1 29130041 0.015000 0.18098 0.145000 0.22337 0.124000 0.20399 0.625000 0.24477 0.499000 0.27970 0.313000 0.20887 GCC TRPM1-004 PUTATIVE basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000417166.2 - ENST00000256552.6 Missense_Mutation SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI SIPA1L3 23094 broad.mit.edu 37 19 38643532 38643532 + Missense_Mutation SNP G G C TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr19:38643532G>C ENST00000222345.6 + 13.0 4095 c.3586G>C c.(3586-3588)Gat>Cat p.D1196H NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1196.0 hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056) extracellular space (GO:0005615) GTPase activator activity (GO:0005096) 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) 59.0 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CTTCAGCCACGATGGGACGTC 0.632 0 136.0 126.0 129.0 19 38643532.0 2203.0 4300.0 6503.0 SO:0001583 missense AB011117 CCDS33007.1 19q13.13 2008-02-05 ENSG00000105738 ENSG00000105738 23094.0 23094.0 23801.0 protein-coding gene gene with protein product Standard XM_032278 XM_005258671 Approved KIAA0545 uc002ohk.3 O60292 OTTHUMG00000073727 ENST00000222345.6:c.3586G>C 19.__UNKNOWN__:g.38643532G>C ENSP00000222345:p.Asp1196His Q2TV87 __UNKNOWN__ CCDS33007.1 . . . . . . . . . . G 17.52 3.410921 0.62399 . . ENSG00000105738 ENST00000222345 T 0.44881 0.91 5.2 5.2 0.72013 . 0.254436 0.37483 N 0.002064 T 0.39279 0.1072 L 0.29908 0.895 0.52099 D 0.999941 P 0.50710 0.938 P 0.46299 0.511 T 0.35847 -0.9772 10 0.72032 D 0.01 -18.7771 15.6558 0.77133 0.0:0.0:1.0:0.0 . 1196 O60292 SI1L3_HUMAN H 1196 ENSP00000222345:D1196H ENSP00000222345:D1196H D + 1 0 SIPA1L3 43335372 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 5.546000 0.67243 2.430000 0.82344 0.467000 0.42956 GAT SIPA1L3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000156294.2 + ENST00000222345.6 Missense_Mutation SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI ZNF599 148103 broad.mit.edu 37 19 35251041 35251041 + Missense_Mutation SNP G G A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr19:35251041G>A ENST00000329285.8 - 4.0 1038 c.665C>T c.(664-666)gCt>gTt p.A222V NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 222.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24.0 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) CTTCACTCCAGCATGAATCTG 0.478 0 189.0 186.0 187.0 19 35251041.0 2203.0 4300.0 6503.0 SO:0001583 missense AK055225 CCDS32991.1 19q13.13 2013-01-08 ENSG00000153896 148103.0 148103.0 """Zinc fingers, C2H2-type"", ""-""" 26408.0 protein-coding gene gene with protein product Standard XM_086046 NM_001007248 Approved FLJ30663 uc010edn.1 Q96NL3 ENST00000329285.8:c.665C>T 19.__UNKNOWN__:g.35251041G>A ENSP00000333802:p.Ala222Val Q569K0|Q5PRG1 __UNKNOWN__ CCDS32991.1 . . . . . . . . . . G 14.90 2.672265 0.47781 . . ENSG00000153896 ENST00000392231;ENST00000329285;ENST00000392229 T 0.17691 2.26 2.26 2.26 0.28386 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.13756 0.0333 L 0.28192 0.835 0.80722 D 1 B 0.29481 0.245 B 0.34489 0.184 T 0.15492 -1.0435 9 0.72032 D 0.01 . 10.6 0.45360 0.0:0.0:1.0:0.0 . 222 Q96NL3 ZN599_HUMAN V 221;222;24 ENSP00000333802:A222V ENSP00000333802:A222V A - 2 0 ZNF599 39942881 0.375000 0.25089 0.973000 0.42090 0.843000 0.47879 2.438000 0.44837 1.584000 0.49913 0.313000 0.20887 GCT ZNF599-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000460648.2 - ENST00000329285.8 Missense_Mutation SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI BDP1 55814 broad.mit.edu 37 5 70818186 70818186 + Missense_Mutation SNP A A G TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr5:70818186A>G ENST00000358731.4 + 23.0 5325 c.5062A>G c.(5062-5064)Aat>Gat p.N1688D BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 1688.0 gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677) NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72.0 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GGCTAAGCCAAATTTGGGAAG 0.383 0 147.0 147.0 147.0 5 70818186.0 1855.0 4096.0 5951.0 SO:0001583 missense AF298151 CCDS43328.1 5q12-q13 2008-02-05 2001-11-29 2001-11-30 ENSG00000145734 ENSG00000145734 55814.0 55814.0 13652.0 protein-coding gene gene with protein product 607012.0 """TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1""" TFNR, TAF3B1 11214970, 11040218 Standard NM_018429 NM_018429 Approved TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241 uc003kbp.1 A6H8Y1 OTTHUMG00000162506 ENST00000358731.4:c.5062A>G 5.__UNKNOWN__:g.70818186A>G ENSP00000351575:p.Asn1688Asp Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9 __UNKNOWN__ CCDS43328.1 . . . . . . . . . . A 13.23 2.174657 0.38413 . . ENSG00000145734 ENST00000358731;ENST00000451951 T 0.13089 2.62 5.21 1.48 0.22813 . 0.342976 0.25169 N 0.032611 T 0.10423 0.0255 L 0.38531 1.155 0.80722 D 1 B;B 0.24576 0.106;0.044 B;B 0.28991 0.097;0.041 T 0.19386 -1.0307 10 0.30854 T 0.27 . 7.4575 0.27274 0.743:0.0:0.257:0.0 . 1688;1688 A6H8Y1;A6H8Y1-2 BDP1_HUMAN;. D 1688;1268 ENSP00000351575:N1688D ENSP00000351575:N1688D N + 1 0 BDP1 70853942 1.000000 0.71417 0.997000 0.53966 0.958000 0.62258 2.126000 0.42026 0.016000 0.14998 0.454000 0.30748 AAT BDP1-016 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000374681.2 + ENST00000358731.4 Missense_Mutation SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI ATP7A 538 broad.mit.edu 37 X 77258626 77258626 + Missense_Mutation SNP C C G TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chrX:77258626C>G ENST00000341514.6 + 6.0 1755 c.1600C>G c.(1600-1602)Cct>Gct p.P534A ATP7A_ENST00000343533.5_Missense_Mutation_p.P534A|ATP7A_ENST00000350425.4_Intron NM_000052.5 NP_000043.4 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 534.0 HMA 5. {ECO:0000255|PROSITE- ProRule:PRU00280}. blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570) basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140) ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532) 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) 53.0 Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526) AAGGTATAATCCTGCTGTTAT 0.393 0 179.0 163.0 169.0 X 77258626.0 2203.0 4296.0 6499.0 SO:0001583 missense L06133 CCDS35339.1, CCDS75997.1 Xq21.1 2012-10-22 2008-07-31 ENSG00000165240 ENSG00000165240 538.0 538.0 3.6.3.4 """ATPases / P-type""" 869.0 protein-coding gene gene with protein product """copper pump 1"", ""copper-transporting ATPase 1""" 300011.0 """Menkes syndrome""" MNK 10079817 Standard NM_000052 NM_000052 Approved uc004ecx.4 Q04656 OTTHUMG00000021885 ENST00000341514.6:c.1600C>G X.__UNKNOWN__:g.77258626C>G ENSP00000345728:p.Pro534Ala B1AT72|O00227|O00745|Q9BYY8 __UNKNOWN__ CCDS35339.1 . . . . . . . . . . C 11.64 1.697535 0.30142 . . ENSG00000165240 ENST00000343533;ENST00000341514;ENST00000355691 D;D 0.88277 -2.36;-2.36 5.15 3.2 0.36748 Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1); 0.125811 0.56097 N 0.000039 D 0.86426 0.5930 L 0.52011 1.625 0.80722 D 1 B;B 0.34103 0.437;0.362 B;B 0.37267 0.245;0.133 D 0.84620 0.0683 10 0.39692 T 0.17 -0.8192 14.9769 0.71281 0.0:0.7388:0.2612:0.0 . 534;544 Q04656;Q59HD1 ATP7A_HUMAN;. A 534;534;544 ENSP00000343026:P534A;ENSP00000345728:P534A ENSP00000345728:P534A P + 1 0 ATP7A 77145282 1.000000 0.71417 0.984000 0.44739 0.988000 0.76386 2.277000 0.43417 1.037000 0.40024 0.429000 0.28392 CCT ATP7A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057306.1 + ENST00000341514.6 Missense_Mutation SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI ABCA9 10350 broad.mit.edu 37 17 66982411 66982411 + Missense_Mutation SNP G G A TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr17:66982411G>A ENST00000340001.4 - 32.0 4313 c.4102C>T c.(4102-4104)Cct>Tct p.P1368S ABCA9_ENST00000453985.2_Missense_Mutation_p.P1330S|ABCA9_ENST00000370732.2_Missense_Mutation_p.P1368S NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1368.0 ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}. transport (GO:0006810) integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|ATPase activity (GO:0016887) 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) 91.0 Breast(10;1.47e-12) TTCTCCTGAGGGCAGTACCCC 0.537 0 117.0 99.0 105.0 17 66982411.0 2203.0 4300.0 6503.0 SO:0001583 missense AF423307 CCDS11681.1 17q24 2012-03-14 ENSG00000154258 ENSG00000154258 10350.0 10350.0 """ATP binding cassette transporters / subfamily A""" 39.0 protein-coding gene gene with protein product 612507.0 Standard NM_172386 XM_005256934 Approved EST640918 uc002jhu.3 Q8IUA7 OTTHUMG00000140371 ENST00000340001.4:c.4102C>T 17.__UNKNOWN__:g.66982411G>A ENSP00000342216:p.Pro1368Ser Q6P655|Q8N2S4|Q8WWZ5|Q96MD8 __UNKNOWN__ CCDS11681.1 . . . . . . . . . . G 18.98 3.738364 0.69304 . . ENSG00000154258 ENST00000340001;ENST00000453985;ENST00000370732 T;T 0.15017 2.46;2.46 4.87 3.84 0.44239 ATPase, AAA+ type, core (1);ABC transporter-like (2); 0.284029 0.24925 N 0.034508 T 0.41858 0.1177 M 0.75884 2.315 0.47994 D 0.999563 D;D 0.76494 0.999;0.999 D;D 0.83275 0.982;0.996 T 0.42599 -0.9442 10 0.87932 D 0 . 14.8597 0.70372 0.0:0.1435:0.8565:0.0 . 1368;1368 Q8IUA7-3;Q8IUA7 .;ABCA9_HUMAN S 1368;1313;1368 ENSP00000342216:P1368S;ENSP00000359767:P1368S ENSP00000342216:P1368S P - 1 0 ABCA9 64494006 1.000000 0.71417 0.993000 0.49108 0.453000 0.32348 7.060000 0.76692 2.424000 0.82194 0.655000 0.94253 CCT ABCA9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000277072.2 - ENST00000340001.4 Missense_Mutation SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI ATP4B 496 ucsc.edu 37 13 114312399 114312399 + Missense_Mutation SNP A A T TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr13:114312399A>T ENST00000335288.4 - 1.0 102 c.61T>A c.(61-63)Tgc>Agc p.C21S NM_000705.3 NP_000696.1 P51164 ATP4B_HUMAN ATPase, H+/K+ exchanging, beta polypeptide 21.0 cell adhesion (GO:0007155)|hydrogen ion transmembrane transport (GO:1902600)|ion transmembrane transport (GO:0034220)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890) hydrogen:potassium-exchanging ATPase activity (GO:0008900) breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13.0 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.171) GGGTTCCAGCAGTAACGCTGG 0.692 0 36.0 34.0 34.0 13 114312399.0 2203.0 4298.0 6501.0 SO:0001583 missense CCDS9539.1 13q34 2011-08-01 ENSG00000186009 ENSG00000186009 496.0 496.0 3.6.3.10 """ATPases / P-type""" 820.0 protein-coding gene gene with protein product 137217 1330887, 15057823 Standard NM_000705 NM_000705 Approved ATP6B uc001vtz.3 P51164 OTTHUMG00000140234 ENST00000335288.4:c.61T>A 13.__UNKNOWN__:g.114312399A>T ENSP00000334216:p.Cys21Ser B1B0N8 __UNKNOWN__ CCDS9539.1 . . . . . . . . . . A 15.47 2.842917 0.51057 . . ENSG00000186009 ENST00000335288 T 0.29397 1.57 4.41 4.41 0.53225 . 0.283528 0.30311 N 0.009918 T 0.36110 0.0955 M 0.72479 2.2 0.33083 D 0.536842 P 0.48589 0.912 P 0.48334 0.574 T 0.56786 -0.7921 10 0.87932 D 0 -0.0752 4.5476 0.12088 0.7011:0.1992:0.0997:0.0 . 21 P51164 ATP4B_HUMAN S 21 ENSP00000334216:C21S ENSP00000334216:C21S C - 1 0 ATP4B 113360400 1.000000 0.71417 1.000000 0.80357 0.484000 0.33280 1.186000 0.32078 1.838000 0.53458 0.454000 0.30748 TGC ATP4B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276703.2 - ENST00000335288.4 Missense_Mutation SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI KIAA0226L 80183 ucsc.edu 37 13 46952054 46952054 + Missense_Mutation SNP T T C TCGA-QR-A706-01A-11D-A35D-08 TCGA-QR-A706-10A-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 3eb85fa4-db21-4218-99c8-13f214d68222 8a2d6255-25ae-463f-98ab-eeb976337d81 g.chr13:46952054T>C ENST00000409879.2 - 3.0 1095 c.35A>G c.(34-36)aAt>aGt p.N12S KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000389908.3_Intron|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.N12S|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.N12S|KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000480935.1_Intron|KIAA0226L_ENST00000429979.1_5'UTR|KIAA0226L_ENST00000378797.2_5'UTR|KIAA0226L_ENST00000378781.3_5'UTR Q9H714 K226L_HUMAN KIAA0226-like 0.0 NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26.0 AAGAGGCAGATTGACACAGAG 0.438 0 35.0 32.0 33.0 13 46952054.0 876.0 1991.0 2867.0 SO:0001583 missense AK025215 CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1 13q14.11 2011-08-09 2011-08-09 2011-08-09 ENSG00000102445 ENSG00000102445 80183.0 80183.0 20420.0 protein-coding gene gene with protein product """chromosome 13 open reading frame 18""" C13orf18 Standard NM_025113 NM_001286766 Approved FLJ21562 uc010acl.3 Q9H714 OTTHUMG00000016868 ENST00000409879.2:c.35A>G 13.__UNKNOWN__:g.46952054T>C ENSP00000386578:p.Asn12Ser A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6 __UNKNOWN__ . . . . . . . . . . T 2.018 -0.425360 0.04701 . . ENSG00000102445 ENST00000378784;ENST00000409879;ENST00000322896 T 0.43294 0.95 3.29 -6.58 0.01836 . . . . . T 0.26557 0.0649 . . . 0.09310 N 0.999995 B;B;B 0.10296 0.001;0.001;0.003 B;B;B 0.04013 0.0;0.0;0.001 T 0.18777 -1.0326 8 0.87932 D 0 . 4.9961 0.14240 0.1024:0.4201:0.3318:0.1457 . 12;12;12 B7ZBN5;B7Z6E4;Q9H714-3 .;.;. S 12 ENSP00000368061:N12S ENSP00000315633:N12S N - 2 0 KIAA0226L 45850055 0.000000 0.05858 0.000000 0.03702 0.039000 0.13416 -4.052000 0.00305 -3.376000 0.00176 -1.182000 0.01712 AAT KIAA0226L-012 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000335435.2 - ENST00000409879.2 Missense_Mutation SNP PCPG-TCGA-QR-A706-Normal-SM-5EQGI KCNT2 343450 broad.mit.edu 37 1 196254823 196254823 + Silent SNP C C A TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr1:196254823C>A ENST00000294725.9 - 23.0 3576 c.2661G>T c.(2659-2661)gtG>gtT p.V887V KCNT2_ENST00000609185.1_Silent_p.V813V|KCNT2_ENST00000367433.5_Silent_p.V863V|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.V813V|KCNT2_ENST00000451324.2_3'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 887.0 potassium ion transmembrane transport (GO:0071805) voltage-gated potassium channel complex (GO:0008076) ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249) 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) 97.0 TGATGCTAAACACCCTCCCAG 0.353 0 86.0 83.0 84.0 1 196254823.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BX647852, AY359444, AK127807 CCDS1384.1, CCDS72994.1, CCDS72995.1 1q31.3 2012-07-05 ENSG00000162687 ENSG00000162687 343450.0 343450.0 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated""" 18866.0 protein-coding gene gene with protein product """sodium and chloride activated ATP sensitive potassium channel""" 610044.0 16382103 Standard NM_198503 NM_198503 Approved KCa4.2, SLICK, SLO2.1 uc001gtd.1 Q6UVM3 OTTHUMG00000035611 ENST00000294725.9:c.2661G>T 1.__UNKNOWN__:g.196254823C>A Q3SY59|Q5VTN1|Q6ZMT3 __UNKNOWN__ CCDS1384.1 KCNT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086418.2 - ENST00000294725.9 Silent SNP PCPG-TCGA-QR-A707-Normal-SM-5EQGD TTN 7273 broad.mit.edu 37 2 179397305 179397305 + Missense_Mutation SNP C C G TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr2:179397305C>G ENST00000589042.1 - 358.0 104261 c.104037G>C c.(104035-104037)gaG>gaC p.E34679D TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32111D|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25739D|TTN_ENST00000460472.2_Missense_Mutation_p.E25614D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25806D|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33038D|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591867.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33038.0 adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) 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) 1448.0 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GACGCAGCCTCTCTTCCTCTG 0.458 0 104.0 101.0 102.0 2 179397305.0 1897.0 4135.0 6032.0 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273.0 7273.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403.0 protein-coding gene gene with protein product 188840.0 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_133378 NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.104037G>C 2.__UNKNOWN__:g.179397305C>G ENSP00000467141:p.Glu34679Asp A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 __UNKNOWN__ CCDS59435.1 . . . . . . . . . . C 12.76 2.033771 0.35893 . . ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.65549 -0.16;0.07;0.05;0.04 6.08 2.53 0.30540 Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1); . . . . T 0.61502 0.2352 N 0.19112 0.55 0.39925 D 0.974201 D;D;D;D 0.69078 0.997;0.997;0.997;0.997 D;D;D;D 0.72625 0.978;0.978;0.978;0.978 T 0.63220 -0.6686 9 0.87932 D 0 . 7.3903 0.26905 0.0:0.5076:0.0:0.4924 . 25614;25739;25806;33038 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN D 32111;25614;25806;25739;25611 ENSP00000343764:E32111D;ENSP00000434586:E25614D;ENSP00000340554:E25806D;ENSP00000352154:E25739D ENSP00000340554:E25806D E - 3 2 TTN 179105551 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 0.764000 0.26532 0.715000 0.32103 0.655000 0.94253 GAG TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 - ENST00000589042.1 Missense_Mutation SNP PCPG-TCGA-QR-A707-Normal-SM-5EQGD HIC2 23119 broad.mit.edu 37 22 21800664 21800664 + Missense_Mutation SNP C C T TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr22:21800664C>T ENST00000443632.2 + 2.0 1852 c.1480C>T c.(1480-1482)Ccc>Tcc p.P494S HIC2_ENST00000407598.2_Missense_Mutation_p.P494S|HIC2_ENST00000407464.2_Missense_Mutation_p.P494S Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 494.0 negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16.0 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) CCTGTCAGCACCCAGTGCGGC 0.642 NSCLC(23;437 858 2282 27947 40366) 0 38.0 38.0 38.0 22 21800664.0 2203.0 4300.0 6503.0 SO:0001583 missense AB028943 CCDS13789.1 22q11.21 2013-01-09 ENSG00000169635 ENSG00000169635 23119.0 23119.0 """-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing""" 18595.0 protein-coding gene gene with protein product 607712.0 11554746 Standard NM_015094 Approved KIAA1020, HRG22, ZBTB30, ZNF907 uc002zur.4 Q96JB3 OTTHUMG00000150781 ENST00000443632.2:c.1480C>T 22.__UNKNOWN__:g.21800664C>T ENSP00000387757:p.Pro494Ser Q504T6|Q96KR3|Q9NSM9|Q9UPX9 __UNKNOWN__ CCDS13789.1 . . . . . . . . . . C 0.016 -1.520695 0.00967 . . ENSG00000169635 ENST00000407464;ENST00000407598;ENST00000443632 T;T;T 0.11930 2.73;2.73;2.73 4.39 4.39 0.52855 . 0.127163 0.53938 D 0.000047 T 0.11623 0.0283 L 0.29908 0.895 0.47905 D 0.999548 B 0.29862 0.259 B 0.29524 0.103 T 0.11372 -1.0590 10 0.40728 T 0.16 . 14.4823 0.67592 0.0:1.0:0.0:0.0 . 494 Q96JB3 HIC2_HUMAN S 494 ENSP00000385319:P494S;ENSP00000384889:P494S;ENSP00000387757:P494S ENSP00000385319:P494S P + 1 0 HIC2 20130664 0.966000 0.33281 0.547000 0.28179 0.054000 0.15201 2.478000 0.45189 2.282000 0.76494 0.563000 0.77884 CCC HIC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320061.2 + ENST00000443632.2 Missense_Mutation SNP PCPG-TCGA-QR-A707-Normal-SM-5EQGD CD180 4064 broad.mit.edu 37 5 66479625 66479625 + Missense_Mutation SNP T T A TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr5:66479625T>A ENST00000256447.4 - 3.0 1203 c.1046A>T c.(1045-1047)cAc>cTc p.H349L NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 349.0 B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34.0 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) GATGTAGAGGTGTGTAAGGGA 0.423 0 114.0 108.0 110.0 5 66479625.0 2203.0 4300.0 6503.0 SO:0001583 missense D83597 CCDS3992.1 5q12 2008-02-05 2006-03-28 2005-06-07 ENSG00000134061 ENSG00000134061 4064.0 4064.0 """CD molecules""" 6726.0 protein-coding gene gene with protein product 602226.0 """lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen""" LY64 9763566, 8975706 Standard NM_005582 NM_005582 Approved RP105, Ly78 uc003juy.2 Q99467 OTTHUMG00000131229 ENST00000256447.4:c.1046A>T 5.__UNKNOWN__:g.66479625T>A ENSP00000256447:p.His349Leu B2R7Z7|Q32MM5 __UNKNOWN__ CCDS3992.1 . . . . . . . . . . T 15.57 2.873425 0.51695 . . ENSG00000134061 ENST00000256447 T 0.56776 0.44 4.94 4.94 0.65067 . 0.149149 0.43260 D 0.000593 T 0.46425 0.1392 N 0.20766 0.605 0.47065 D 0.999307 D 0.69078 0.997 P 0.58130 0.833 T 0.33240 -0.9876 10 0.11485 T 0.65 . 9.3023 0.37853 0.0:0.0802:0.0:0.9198 . 349 Q99467 CD180_HUMAN L 349 ENSP00000256447:H349L ENSP00000256447:H349L H - 2 0 CD180 66515381 0.726000 0.28059 0.993000 0.49108 0.692000 0.40212 0.821000 0.27338 2.075000 0.62263 0.533000 0.62120 CAC CD180-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253973.2 - ENST00000256447.4 Missense_Mutation SNP PCPG-TCGA-QR-A707-Normal-SM-5EQGD SLC15A2 6565 broad.mit.edu 37 3 121647372 121647372 + Silent SNP T T A TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr3:121647372T>A ENST00000489711.1 + 15.0 1699 c.1311T>A c.(1309-1311)tcT>tcA p.S437S SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Silent_p.S406S NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 437.0 drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333) NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36.0 GBM - Glioblastoma multiforme(114;0.0967) Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610) AAAACAATTCTCTGTTGATAG 0.428 0 181.0 189.0 186.0 3 121647372.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC044572 CCDS3007.1, CCDS54631.1 3q21.1 2013-07-18 2013-07-18 ENSG00000163406 ENSG00000163406 6565.0 6565.0 """Solute carriers""" 10921.0 protein-coding gene gene with protein product 602339.0 """solute carrier family 15 (H+/peptide transporter), member 2""" 7756356 Standard NM_021082 NM_021082 Approved PEPT2 uc003eep.2 Q16348 OTTHUMG00000159423 ENST00000489711.1:c.1311T>A 3.__UNKNOWN__:g.121647372T>A A8K1A5|B4E2A7 __UNKNOWN__ CCDS3007.1 SLC15A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355239.1 + ENST00000489711.1 Silent SNP PCPG-TCGA-QR-A707-Normal-SM-5EQGD FAHD2A 51011 broad.mit.edu 37 2 96072903 96072903 + Missense_Mutation SNP C C A TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr2:96072903C>A ENST00000233379.4 + 3.0 613 c.460C>A c.(460-462)Cag>Aag p.Q154K FAHD2A_ENST00000447036.1_Missense_Mutation_p.Q154K NM_016044.2 NP_057128.2 Q96GK7 FAH2A_HUMAN fumarylacetoacetate hydrolase domain containing 2A 154.0 hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 8.0 ACCACAGAGCCAGGTCAGTGT 0.582 0 99.0 100.0 100.0 2 96072903.0 2203.0 4300.0 6503.0 SO:0001583 missense AF151863 CCDS2014.1 2q11.2 2008-02-05 ENSG00000115042 ENSG00000115042 51011.0 51011.0 24252.0 protein-coding gene gene with protein product Standard NM_016044 NM_016044 Approved CGI-105 uc002sur.3 Q96GK7 OTTHUMG00000130397 ENST00000233379.4:c.460C>A 2.__UNKNOWN__:g.96072903C>A ENSP00000233379:p.Gln154Lys Q9Y3B0 __UNKNOWN__ CCDS2014.1 . . . . . . . . . . C 6.712 0.500081 0.12762 . . ENSG00000115042 ENST00000447036;ENST00000233379 D;D 0.94537 -3.45;-3.45 3.35 1.16 0.20824 Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1); 0.560224 0.18836 N 0.129832 T 0.78910 0.4358 N 0.01679 -0.765 0.27020 N 0.964493 B 0.02656 0.0 B 0.06405 0.002 T 0.69187 -0.5211 10 0.06236 T 0.91 . 8.2512 0.31724 0.5974:0.4026:0.0:0.0 . 154 Q96GK7 FAH2A_HUMAN K 154 ENSP00000406424:Q154K;ENSP00000233379:Q154K ENSP00000233379:Q154K Q + 1 0 FAHD2A 95436630 0.991000 0.36638 0.983000 0.44433 0.874000 0.50279 0.475000 0.22164 0.657000 0.30906 0.561000 0.74099 CAG FAHD2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252778.1 + ENST00000233379.4 Missense_Mutation SNP PCPG-TCGA-QR-A707-Normal-SM-5EQGD PLXNA3 55558 broad.mit.edu 37 X 153695647 153695647 + Missense_Mutation SNP C C T TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chrX:153695647C>T ENST00000369682.3 + 19.0 3449 c.3274C>T c.(3274-3276)Cgg>Tgg p.R1092W NM_017514.3 NP_059984.3 P51805 PLXA3_HUMAN plexin A3 1092.0 IPT/TIG 3. axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637) integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116) semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888) 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) 48.0 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCCCAGCCTCGGGCGCAAGG 0.617 0 49.0 49.0 49.0 X 153695647.0 2201.0 4299.0 6500.0 SO:0001583 missense X74609 CCDS14752.1 Xq28 2008-02-05 ENSG00000130827 ENSG00000130827 55558.0 55558.0 """Plexins""" 9101.0 protein-coding gene gene with protein product 300022.0 PLXN4 8248200, 8733135 Standard NM_017514 NM_017514 Approved SEX, XAP-6, 6.3, Plxn3 uc004flm.3 P51805 OTTHUMG00000033290 ENST00000369682.3:c.3274C>T X.__UNKNOWN__:g.153695647C>T ENSP00000358696:p.Arg1092Trp Q5HY36 __UNKNOWN__ CCDS14752.1 . . . . . . . . . . C 16.18 3.051044 0.55218 . . ENSG00000130827 ENST00000369682 T 0.01025 5.43 5.67 2.8 0.32819 Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1); 0.292311 0.20047 U 0.100399 T 0.01558 0.0050 N 0.19112 0.55 0.09310 N 1 P 0.44816 0.844 P 0.51453 0.67 T 0.50346 -0.8839 10 0.56958 D 0.05 . 13.1185 0.59313 0.4135:0.5865:0.0:0.0 . 1092 P51805 PLXA3_HUMAN W 1092 ENSP00000358696:R1092W ENSP00000358696:R1092W R + 1 2 PLXNA3 153348841 0.001000 0.12720 0.010000 0.14722 0.791000 0.44710 1.663000 0.37429 0.139000 0.18822 0.529000 0.55759 CGG PLXNA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000081634.1 + ENST00000369682.3 Missense_Mutation SNP PCPG-TCGA-QR-A707-Normal-SM-5EQGD LACE1 246269 broad.mit.edu 37 6 108840904 108840904 + Missense_Mutation SNP G G A rs141756676 byFrequency TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr6:108840904G>A ENST00000368977.4 + 12.0 1394 c.1208G>A c.(1207-1209)cGt>cAt p.R403H NM_145315.3 NP_660358.2 Q8WV93 LACE1_HUMAN lactation elevated 1 403.0 mitochondrion (GO:0005739) ATP binding (GO:0005524) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15.0 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) TTTCAGGTGCGTATAATTTGC 0.353 0 G HIS/ARG 1,4405 2.1+/-5.4 0,1,2202 141.0 134.0 137.0 1208 5.8 1.0 6 dbSNP_134 137.0 5,8595 3.7+/-12.6 0,5,4295 yes missense LACE1 NM_145315.3 29 0,6,6497 AA,AG,GG 0.0581,0.0227,0.0461 probably-damaging 403/482 108840904.0 6,13000 2203.0 4300.0 6503.0 SO:0001583 missense AF520418 CCDS5067.1 6q22.1 2006-11-10 ENSG00000135537 ENSG00000135537 246269.0 246269.0 16411.0 protein-coding gene gene with protein product """ATPase family gene 1 homolog (S. cerevisiae)""" 12079282 Standard NM_145315 XM_005266885 Approved AFG1 uc003psj.3 Q8WV93 OTTHUMG00000015324 ENST00000368977.4:c.1208G>A 6.__UNKNOWN__:g.108840904G>A ENSP00000357973:p.Arg403His Q8N6A3 __UNKNOWN__ CCDS5067.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 19.13|19.13 3.768032|3.768032 0.69878|0.69878 2.27E-4|2.27E-4 5.81E-4|5.81E-4 ENSG00000135537|ENSG00000135537 ENST00000368977|ENST00000421954 .|. .|. .|. 5.82|5.82 5.82|5.82 0.92795|0.92795 .|. 0.000000|. 0.85682|. D|. 0.000000|. D|D 0.83105|0.83105 0.5182|0.5182 M|M 0.89478|0.89478 3.035|3.035 0.80722|0.80722 D|D 1|1 D|. 0.89917|. 1.0|. D|. 0.79784|. 0.993|. D|D 0.84565|0.84565 0.0652|0.0652 9|5 0.87932|. D|. 0|. -7.3946|-7.3946 19.6956|19.6956 0.96023|0.96023 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 403|. Q8WV93|. LACE1_HUMAN|. H|I 403|271 .|. ENSP00000357973:R403H|. R|V +|+ 2|1 0|0 LACE1|LACE1 108947597|108947597 1.000000|1.000000 0.71417|0.71417 0.966000|0.966000 0.40874|0.40874 0.180000|0.180000 0.23129|0.23129 8.206000|8.206000 0.89745|0.89745 2.757000|2.757000 0.94681|0.94681 0.561000|0.561000 0.74099|0.74099 CGT|GTA LACE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041719.4 + ENST00000368977.4 Missense_Mutation SNP PCPG-TCGA-QR-A707-Normal-SM-5EQGD NXF3 56000 broad.mit.edu 37 X 102339403 102339403 + Missense_Mutation SNP G G A TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chrX:102339403G>A ENST00000395065.3 - 3.0 319 c.218C>T c.(217-219)cCc>cTc p.P73L NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_5'UTR NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 73.0 mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973) cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634) mRNA binding (GO:0003729)|nucleotide binding (GO:0000166) NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26.0 CCGATTATAGGGTGAAATAGT 0.438 0 157.0 129.0 139.0 X 102339403.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ277527 CCDS14503.1 Xq22 2008-02-05 ENSG00000147206 ENSG00000147206 56000.0 56000.0 8073.0 protein-coding gene gene with protein product 300316.0 11073998 Standard NM_022052 NM_022052 Approved uc004eju.3 Q9H4D5 OTTHUMG00000022088 ENST00000395065.3:c.218C>T X.__UNKNOWN__:g.102339403G>A ENSP00000378504:p.Pro73Leu B4DYS7|Q5H9I1|Q9H1A9 __UNKNOWN__ CCDS14503.1 . . . . . . . . . . G 4.311 0.057109 0.08339 . . ENSG00000147206 ENST00000395065 T 0.44083 0.93 3.94 0.0526 0.14303 . 1.178530 0.05871 N 0.624605 T 0.24812 0.0602 L 0.43152 1.355 0.09310 N 0.999999 P;B 0.40970 0.734;0.048 B;B 0.32533 0.147;0.009 T 0.11891 -1.0569 10 0.11182 T 0.66 5.279 1.6649 0.02799 0.1131:0.1779:0.3394:0.3696 . 73;73 B4DYI1;Q9H4D5 .;NXF3_HUMAN L 73 ENSP00000378504:P73L ENSP00000378504:P73L P - 2 0 NXF3 102226059 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -2.208000 0.01229 -0.118000 0.11851 0.544000 0.68410 CCC NXF3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057684.1 - ENST00000395065.3 Missense_Mutation SNP PCPG-TCGA-QR-A707-Normal-SM-5EQGD ZZEF1 23140 broad.mit.edu 37 17 3981268 3981268 + Silent SNP G G A TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr17:3981268G>A ENST00000381638.2 - 19.0 3022 c.2898C>T c.(2896-2898)tcC>tcT p.S966S ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 966.0 calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270) 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) 84.0 TGCCTTGGACGGACCAGAACA 0.547 0 81.0 74.0 77.0 17 3981268.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC035319 CCDS11043.1 17p13.3 2013-01-10 2004-11-03 ENSG00000074755 ENSG00000074755 23140.0 23140.0 """Zinc fingers, ZZ-type"", ""EF-hand domain containing""" 29027.0 protein-coding gene gene with protein product """zinc finger, ZZ-type with EF hand domain 1""" 9455477 Standard NM_015113 XM_005256560 Approved KIAA0399, ZZZ4, FLJ10821 uc002fxe.3 O43149 OTTHUMG00000090741 ENST00000381638.2:c.2898C>T 17.__UNKNOWN__:g.3981268G>A A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9 __UNKNOWN__ CCDS11043.1 ZZEF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207480.1 - ENST00000381638.2 Silent SNP PCPG-TCGA-QR-A707-Normal-SM-5EQGD MUC21 394263 broad.mit.edu 37 6 30954121 30954121 + Missense_Mutation SNP G G A rs137862032 TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr6:30954121G>A ENST00000486149.2 + 0.0 552 MUC21_ENST00000376296.3_Missense_Mutation_p.V57I Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42.0 CTCCAGTGGGGTCAGCACAGC 0.567 0 G ILE/VAL 0,4406 0,0,2203 151.0 136.0 141.0 169 -3.4 0.0 6 dbSNP_134 141.0 2,8598 2.2+/-6.3 0,2,4298 no missense MUC21 NM_001010909.2 29 0,2,6501 AA,AG,GG 0.0233,0.0,0.0154 benign 57/567 30954121.0 2,13004 2203.0 4300.0 6503.0 SO:0001623 5_prime_UTR_variant AK056612 CCDS34388.1 6p21.33 2008-05-14 2008-05-14 2008-05-14 ENSG00000204544 ENSG00000204544 394263.0 394263.0 """Mucins""" 21661.0 protein-coding gene gene with protein product """epiglycanin""" """chromosome 6 open reading frame 205""" C6orf205 17977904 Standard NM_001010909 NM_001010909 Approved bCX31G15.2 uc003nsh.2 Q5SSG8 OTTHUMG00000031216 ENST00000486149.2:c.-1194G>A 6.__UNKNOWN__:g.30954121G>A B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5 __UNKNOWN__ . . . . . . . . . . G 7.413 0.635179 0.14322 0.0 2.33E-4 ENSG00000204544 ENST00000450707;ENST00000376296 T 0.01804 4.63 2.02 -3.37 0.04898 . . . . . T 0.00328 0.0010 N 0.08118 0 0.09310 N 1 B 0.20368 0.044 B 0.21546 0.035 T 0.41610 -0.9499 9 0.32370 T 0.25 3.4664 2.7644 0.05316 0.4888:0.0:0.3016:0.2096 . 57 Q5SSG8 MUC21_HUMAN I 57 ENSP00000365473:V57I ENSP00000365473:V57I V + 1 0 MUC21 31062100 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -0.398000 0.07259 -0.650000 0.05423 -0.436000 0.05848 GTC MUC21-002 PUTATIVE basic|appris_principal|exp_conf protein_coding protein_coding OTTHUMT00000128457.3 + ENST00000486149.2 5'UTR SNP PCPG-TCGA-QR-A707-Normal-SM-5EQGD LIPJ 142910 broad.mit.edu 37 10 90365406 90365406 + Missense_Mutation SNP A A T TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr10:90365406A>T ENST00000371939.3 + 10.0 1126 c.812A>T c.(811-813)cAt>cTt p.H271L NM_001010939.2 NP_001010939.2 Q5W064 LIPJ_HUMAN lipase, family member J 271.0 lipid catabolic process (GO:0016042) hydrolase activity, acting on ester bonds (GO:0016788) large_intestine(4)|lung(4)|ovary(1) 9.0 all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222) Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05) AATTCTACTCATTTGAAAGCT 0.338 0 91.0 92.0 91.0 10 90365406.0 2203.0 4300.0 6503.0 SO:0001583 missense BC031219 CCDS31240.1 10q23.31 2008-02-04 2008-02-04 2007-02-27 ENSG00000204022 ENSG00000204022 142910.0 142910.0 21773.0 protein-coding gene gene with protein product 613921.0 """lipase-like, ab-hydrolase domain containing 1"", ""lipase, family member J""" LIPL1 Standard XM_084377 NM_001010939 Approved bA425M17.2 uc001kff.3 Q5W064 OTTHUMG00000018691 ENST00000371939.3:c.812A>T 10.__UNKNOWN__:g.90365406A>T ENSP00000361007:p.His271Leu A8MT98|Q0P671 __UNKNOWN__ CCDS31240.1 . . . . . . . . . . A 7.165 0.586462 0.13749 . . ENSG00000204022 ENST00000371939;ENST00000531458 T;T 0.70164 0.18;-0.46 3.69 1.2 0.21068 Alpha/beta hydrolase fold-1 (1); 1.354340 0.04888 N 0.448900 T 0.58807 0.2148 L 0.50333 1.59 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.39722 -0.9600 10 0.42905 T 0.14 -6.4428 4.24 0.10643 0.7176:0.0:0.1051:0.1773 . 271 Q5W064 LIPJ_HUMAN L 271;86 ENSP00000361007:H271L;ENSP00000434211:H86L ENSP00000361007:H271L H + 2 0 LIPJ 90355386 0.001000 0.12720 0.001000 0.08648 0.000000 0.00434 1.488000 0.35551 0.112000 0.17975 -0.350000 0.07774 CAT LIPJ-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049248.2 + ENST00000371939.3 Missense_Mutation SNP PCPG-TCGA-QR-A707-Normal-SM-5EQGD SLC13A5 284111 broad.mit.edu 37 17 6589585 6589585 + Missense_Mutation SNP C C T TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr17:6589585C>T ENST00000433363.2 - 12.0 1881 c.1648G>A c.(1648-1650)Gcc>Acc p.A550T SLC13A5_ENST00000381074.4_Missense_Mutation_p.A507T|SLC13A5_ENST00000293800.6_Missense_Mutation_p.A533T|SLC13A5_ENST00000573648.1_Missense_Mutation_p.A504T NM_001284510.1|NM_177550.3 NP_001271439.1|NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 550.0 transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26.0 TCAAATATGGCCCGTCCCCAG 0.473 0 178.0 159.0 165.0 17 6589585.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ489980 CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1 17p13.1 2013-05-22 ENSG00000141485 ENSG00000141485 284111.0 284111.0 """Solute carriers""" 23089.0 protein-coding gene gene with protein product 608305.0 12445824 Standard NM_177550 NM_001284510 Approved NACT uc002gdj.3 Q86YT5 OTTHUMG00000102052 ENST00000433363.2:c.1648G>A 17.__UNKNOWN__:g.6589585C>T ENSP00000406220:p.Ala550Thr B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1 __UNKNOWN__ CCDS11079.1 . . . . . . . . . . C 10.49 1.365448 0.24684 . . ENSG00000141485 ENST00000293800;ENST00000433363;ENST00000381074 T 0.02944 4.1 5.2 1.93 0.25924 . 0.545495 0.20825 N 0.084988 T 0.02767 0.0083 L 0.54323 1.7 0.09310 N 1 B;B;B;B 0.15473 0.006;0.01;0.006;0.013 B;B;B;B 0.19666 0.007;0.015;0.026;0.026 T 0.45381 -0.9265 10 0.15066 T 0.55 . 2.9295 0.05795 0.1424:0.5482:0.1392:0.1702 . 504;507;533;550 B7ZLB4;F8W7N2;B3KXR0;Q86YT5 .;.;.;S13A5_HUMAN T 550;504;507 ENSP00000370464:A507T ENSP00000293800:A550T A - 1 0 SLC13A5 6530309 0.001000 0.12720 0.560000 0.28344 0.944000 0.59088 0.636000 0.24644 0.698000 0.31739 -0.140000 0.14226 GCC SLC13A5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000219853.2 - ENST00000433363.2 Missense_Mutation SNP PCPG-TCGA-QR-A707-Normal-SM-5EQGD Unknown 0 bcgsc.ca 37 16 34329440 34329440 + RNA SNP G G A TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr16:34329440G>A CTD-2144E22.6 (70819 upstream) : RP11-244B22.11 (48652 downstream) AGAGAAAAAAGAGAGCGAGAA 0.398 0 SO:0001628 intergenic_variant 16.__UNKNOWN__:g.34329440G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A707-Normal-SM-5EQGD BCS1L 617 hgsc.bcm.edu 37 2 219525907 219525907 + Missense_Mutation SNP G G T TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 1451182a-ba33-4966-aad0-066d77006065 682d0a33-6110-4bc9-94c6-a233330fbbc9 g.chr2:219525907G>T ENST00000431802.1 + 2.0 896 c.197G>T c.(196-198)tGg>tTg p.W66L BCS1L_ENST00000392109.1_Missense_Mutation_p.W66L|BCS1L_ENST00000359273.3_Missense_Mutation_p.W66L|BCS1L_ENST00000412366.1_Missense_Mutation_p.W66L|BCS1L_ENST00000392111.2_Missense_Mutation_p.W66L|BCS1L_ENST00000439945.1_Missense_Mutation_p.W66L|BCS1L_ENST00000392110.2_Missense_Mutation_p.W66L Q9Y276 BCS1_HUMAN BC1 (ubiquinol-cytochrome c reductase) synthesis-like 66.0 mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005) mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739) ATP binding (GO:0005524) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 8.0 Renal(207;0.0474) Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGCTTAGCTGGCTCACCCGC 0.562 0 109.0 108.0 108.0 2 219525907.0 2203.0 4300.0 6503.0 SO:0001583 missense AF026849 CCDS2419.1 2q35 2014-09-17 2012-10-12 ENSG00000074582 ENSG00000074582 617.0 617.0 """ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors""" 1020.0 protein-coding gene gene with protein product """GRACILE syndrome"", ""Bjornstad syndrome""" 603647 """BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)""" 9878253, 17314340 Standard NM_004328 NM_001079866 Approved Hs.6719, BCS, h-BCS, BJS uc002viq.3 Q9Y276 OTTHUMG00000133114 ENST00000431802.1:c.197G>T 2.__UNKNOWN__:g.219525907G>T ENSP00000413908:p.Trp66Leu B3KTW9|Q7Z2V7 __UNKNOWN__ CCDS2419.1 . . . . . . . . . . G 29.9 5.047987 0.93740 . . ENSG00000074582 ENST00000428880;ENST00000430322;ENST00000456050;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000423377;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802 D;D;D;D;D;D;D;D;D;D;D 0.99282 -5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68 5.46 5.46 0.80206 BCS1, N-terminal (1); 0.000000 0.85682 D 0.000000 D 0.99603 0.9856 H 0.95574 3.69 0.80722 D 1 D 0.65815 0.995 D 0.66602 0.945 D 0.97912 1.0309 10 0.87932 D 0 -22.1918 19.3096 0.94182 0.0:0.0:1.0:0.0 . 66 Q9Y276 BCS1_HUMAN L 66 ENSP00000391007:W66L;ENSP00000398957:W66L;ENSP00000395440:W66L;ENSP00000352219:W66L;ENSP00000375957:W66L;ENSP00000375958:W66L;ENSP00000397293:W66L;ENSP00000375959:W66L;ENSP00000406494:W66L;ENSP00000404999:W66L;ENSP00000413908:W66L ENSP00000352219:W66L W + 2 0 BCS1L 219234151 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 9.845000 0.99498 2.542000 0.85734 0.655000 0.94253 TGG BCS1L-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000336756.1 + ENST00000431802.1 Missense_Mutation SNP PCPG-TCGA-QR-A707-Normal-SM-5EQGD VCP 7415 broad.mit.edu 37 9 35060506 35060506 + Missense_Mutation SNP G G A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr9:35060506G>A ENST00000358901.6 - 13.0 2394 c.1499C>T c.(1498-1500)cCa>cTa p.P500L NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 500.0 activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861) ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381) breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24.0 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GAATTTGTCTGGGTGCTCCAC 0.453 0 82.0 67.0 72.0 9 35060506.0 2203.0 4300.0 6503.0 SO:0001583 missense AC004472 CCDS6573.1 9p13.3 2014-09-17 2011-01-25 ENSG00000165280 ENSG00000165280 7415.0 7415.0 """ATPases / AAA-type""" 12666.0 protein-coding gene gene with protein product 601023.0 """valosin-containing protein""" 8595912, 7553851 Standard NM_007126 NM_007126 Approved IBMPFD, p97 uc003zvy.2 P55072 OTTHUMG00000019855 ENST00000358901.6:c.1499C>T 9.__UNKNOWN__:g.35060506G>A ENSP00000351777:p.Pro500Leu B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5 __UNKNOWN__ CCDS6573.1 . . . . . . . . . . G 27.5 4.835338 0.91117 . . ENSG00000165280 ENST00000358901 D 0.94723 -3.5 5.71 5.71 0.89125 . 0.000000 0.85682 D 0.000000 D 0.98538 0.9512 H 0.97829 4.085 0.80722 D 1 D 0.89917 1.0 D 0.80764 0.994 D 0.99338 1.0911 10 0.87932 D 0 -29.4237 19.8449 0.96704 0.0:0.0:1.0:0.0 . 500 P55072 TERA_HUMAN L 500 ENSP00000351777:P500L ENSP00000351777:P500L P - 2 0 VCP 35050506 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 9.869000 0.99810 2.680000 0.91292 0.655000 0.94253 CCA VCP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052290.1 - ENST00000358901.6 Missense_Mutation SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 OSBPL7 114881 broad.mit.edu 37 17 45894036 45894036 + Missense_Mutation SNP G G C TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr17:45894036G>C ENST00000007414.3 - 10.0 1012 c.821C>G c.(820-822)cCc>cGc p.P274R OSBPL7_ENST00000392507.3_Missense_Mutation_p.P274R NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 274.0 cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800) autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886) cholesterol binding (GO:0015485) autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32.0 AGACAGGTTGGGAACAGAGCC 0.652 0 46.0 48.0 47.0 17 45894036.0 2203.0 4300.0 6503.0 SO:0001583 missense AF392446 CCDS11515.1 17q21 2013-01-10 ENSG00000006025 114881.0 114881.0 """Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing""" 16387.0 protein-coding gene gene with protein product 606735.0 14593528, 11735225 Standard NM_017731 NM_145798 Approved ORP7, MGC71150 uc002ilx.1 Q9BZF2 ENST00000007414.3:c.821C>G 17.__UNKNOWN__:g.45894036G>C ENSP00000007414:p.Pro274Arg D3DTT6|Q6PIV6 __UNKNOWN__ CCDS11515.1 . . . . . . . . . . G 15.29 2.790046 0.50102 . . ENSG00000006025 ENST00000007414;ENST00000392507 T;T 0.19250 2.16;2.16 5.44 5.44 0.79542 . 0.719415 0.13525 N 0.381393 T 0.48021 0.1477 M 0.75615 2.305 0.52501 D 0.999956 D 0.76494 0.999 D 0.66716 0.946 T 0.35101 -0.9802 10 0.59425 D 0.04 -37.1624 16.5557 0.84484 0.0:0.0:1.0:0.0 . 274 Q9BZF2 OSBL7_HUMAN R 274 ENSP00000007414:P274R;ENSP00000376295:P274R ENSP00000007414:P274R P - 2 0 OSBPL7 43249035 1.000000 0.71417 1.000000 0.80357 0.982000 0.71751 7.386000 0.79775 2.732000 0.93576 0.655000 0.94253 CCC OSBPL7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000441367.1 - ENST00000007414.3 Missense_Mutation SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 LAMB2 3913 broad.mit.edu 37 3 49160648 49160648 + Missense_Mutation SNP T T A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr3:49160648T>A ENST00000418109.1 - 27.0 4305 c.4141A>T c.(4141-4143)Agc>Tgc p.S1381C LAMB2_ENST00000305544.4_Missense_Mutation_p.S1381C NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 1381.0 Domain II. astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202) structural molecule activity (GO:0005198) 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) 61.0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ATGTGTTTGCTGTTGAAGTCC 0.557 0 195.0 161.0 172.0 3 49160648.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS2789.1 3p21.3-p21.2 2013-03-01 ENSG00000172037 ENSG00000172037 3913.0 3913.0 """Laminins""" 6487.0 protein-coding gene gene with protein product """laminin S""" 150325.0 LAMS 2922051, 10393422 Standard NM_002292 NM_002292 Approved uc003cwe.3 P55268 OTTHUMG00000156807 ENST00000418109.1:c.4141A>T 3.__UNKNOWN__:g.49160648T>A ENSP00000388325:p.Ser1381Cys Q16321 __UNKNOWN__ CCDS2789.1 . . . . . . . . . . T 13.74 2.327119 0.41197 . . ENSG00000172037 ENST00000418109;ENST00000305544;ENST00000395387 T;T 0.36157 1.27;1.27 5.78 4.88 0.63580 . 0.175337 0.49916 D 0.000136 T 0.19805 0.0476 N 0.08118 0 0.27349 N 0.956301 P 0.36495 0.556 B 0.32393 0.145 T 0.11036 -1.0604 10 0.62326 D 0.03 . 13.3539 0.60617 0.0:0.0:0.6788:0.3212 . 1381 P55268 LAMB2_HUMAN C 1381;1381;148 ENSP00000388325:S1381C;ENSP00000307156:S1381C ENSP00000307156:S1381C S - 1 0 LAMB2 49135652 1.000000 0.71417 0.819000 0.32651 0.779000 0.44077 5.022000 0.64078 1.373000 0.46208 0.533000 0.62120 AGC LAMB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000345939.1 - ENST00000418109.1 Missense_Mutation SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 PRKCI 5584 broad.mit.edu 37 3 169993051 169993051 + Silent SNP G G A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr3:169993051G>A ENST00000295797.4 + 8.0 986 c.681G>A c.(679-681)ttG>ttA p.L227L NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota 227.0 Regulatory domain. actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192) apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220) ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36.0 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) Tamoxifen(DB00675) ATGAGAGTTTGGATCAAGTTG 0.289 0 135.0 149.0 144.0 3 169993051.0 2203.0 4295.0 6498.0 SO:0001819 synonymous_variant CCDS3212.2 3q26.3 2008-07-18 ENSG00000163558 ENSG00000163558 5584.0 5584.0 2.7.11.13 9404.0 protein-coding gene gene with protein product 600539.0 DXS1179E 7607695, 11978974 Standard NM_002740 NM_002740 Approved PKCI uc003fgs.2 P41743 OTTHUMG00000150214 ENST00000295797.4:c.681G>A 3.__UNKNOWN__:g.169993051G>A D3DNQ4|Q8WW06 __UNKNOWN__ CCDS3212.2 PRKCI-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316866.3 + ENST00000295797.4 Silent SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 LAMB2 3913 broad.mit.edu 37 3 49160646 49160646 + Missense_Mutation SNP G G T TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr3:49160646G>T ENST00000418109.1 - 27.0 4307 c.4143C>A c.(4141-4143)agC>agA p.S1381R LAMB2_ENST00000305544.4_Missense_Mutation_p.S1381R NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 1381.0 Domain II. astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202) structural molecule activity (GO:0005198) 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) 61.0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCATGTGTTTGCTGTTGAAGT 0.562 0 196.0 161.0 173.0 3 49160646.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS2789.1 3p21.3-p21.2 2013-03-01 ENSG00000172037 ENSG00000172037 3913.0 3913.0 """Laminins""" 6487.0 protein-coding gene gene with protein product """laminin S""" 150325.0 LAMS 2922051, 10393422 Standard NM_002292 NM_002292 Approved uc003cwe.3 P55268 OTTHUMG00000156807 ENST00000418109.1:c.4143C>A 3.__UNKNOWN__:g.49160646G>T ENSP00000388325:p.Ser1381Arg Q16321 __UNKNOWN__ CCDS2789.1 . . . . . . . . . . G 0.018 -1.474459 0.01044 . . ENSG00000172037 ENST00000418109;ENST00000305544;ENST00000395387 T;T 0.33654 1.4;1.4 5.78 -1.18 0.09617 . 0.175337 0.49916 N 0.000136 T 0.04998 0.0134 N 0.00128 -2.045 0.22866 N 0.998637 B 0.02656 0.0 B 0.01281 0.0 T 0.40251 -0.9573 10 0.06099 T 0.92 . 4.1881 0.10407 0.1351:0.2855:0.4213:0.1582 . 1381 P55268 LAMB2_HUMAN R 1381;1381;148 ENSP00000388325:S1381R;ENSP00000307156:S1381R ENSP00000307156:S1381R S - 3 2 LAMB2 49135650 0.078000 0.21339 0.165000 0.22776 0.802000 0.45316 -0.627000 0.05521 -0.141000 0.11374 -0.182000 0.12963 AGC LAMB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000345939.1 - ENST00000418109.1 Missense_Mutation SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 CST5 1473 broad.mit.edu 37 20 23860252 23860252 + Missense_Mutation SNP C C A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr20:23860252C>A ENST00000304710.4 - 1.0 135 c.62G>T c.(61-63)gGg>gTg p.G21V NM_001900.4 NP_001891.2 P28325 CYTD_HUMAN cystatin D 21.0 negative regulation of endopeptidase activity (GO:0010951) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) cysteine-type endopeptidase inhibitor activity (GO:0004869) breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11.0 CGAGGCACTCCCGGCCACGGC 0.597 0 80.0 74.0 76.0 20 23860252.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS13162.1 20p11.21 2008-04-15 ENSG00000170367 ENSG00000170367 1473.0 1473.0 2477.0 protein-coding gene gene with protein product 123858.0 1939105 Standard NM_001900 NM_001900 Approved uc002wtr.1 P28325 OTTHUMG00000032089 ENST00000304710.4:c.62G>T 20.__UNKNOWN__:g.23860252C>A ENSP00000307132:p.Gly21Val Q5JRF5|Q9UCA0 __UNKNOWN__ CCDS13162.1 . . . . . . . . . . c 0.030 -1.340512 0.01277 . . ENSG00000170367 ENST00000304710 T 0.09350 2.99 1.47 -2.94 0.05581 . 4.135600 0.00935 N 0.002768 T 0.04952 0.0133 N 0.08118 0 0.09310 N 1 B 0.22003 0.063 B 0.17098 0.017 T 0.26780 -1.0093 10 0.16896 T 0.51 . 3.3279 0.07074 0.3816:0.2497:0.3687:0.0 . 21 P28325 CYTD_HUMAN V 21 ENSP00000307132:G21V ENSP00000307132:G21V G - 2 0 CST5 23808252 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -1.260000 0.02858 -1.131000 0.02910 -0.573000 0.04149 GGG CST5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078355.2 - ENST00000304710.4 Missense_Mutation SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 ZNF99 7652 broad.mit.edu 37 19 22940079 22940079 + Missense_Mutation SNP C C A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr19:22940079C>A ENST00000397104.3 - 6.0 2251 c.2252G>T c.(2251-2253)tGt>tTt p.C751F A8MXY4 ZNF99_HUMAN zinc finger protein 99 822.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) 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) 124.0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AGCTTTGCCACATTCTTCACA 0.343 0 43.0 49.0 47.0 19 22940079.0 2034.0 4211.0 6245.0 SO:0001583 missense BC021822 CCDS59369.1 19p12 2013-01-08 2006-01-17 ENSG00000213973 ENSG00000213973 7652.0 7652.0 """Zinc fingers, C2H2-type"", ""-""" 13175.0 protein-coding gene gene with protein product 603981.0 """zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9""" C19orf9 Standard XM_065124 NM_001080409 Approved MGC24986 uc021urt.1 A8MXY4 ENST00000397104.3:c.2252G>T 19.__UNKNOWN__:g.22940079C>A ENSP00000380293:p.Cys751Phe M0R335 __UNKNOWN__ . . . . . . . . . . c 13.43 2.233784 0.39498 . . ENSG00000213973 ENST00000397104 D 0.85861 -2.04 1.14 1.14 0.20703 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . D 0.94407 0.8201 H 0.98629 4.285 0.44918 D 0.997935 D 0.89917 1.0 D 0.85130 0.997 D 0.93266 0.6647 9 0.87932 D 0 . 9.1856 0.37168 0.0:1.0:0.0:0.0 . 751 A8MXY4 ZNF99_HUMAN F 751 ENSP00000380293:C751F ENSP00000380293:C751F C - 2 0 ZNF99 22731919 0.998000 0.40836 0.048000 0.18961 0.401000 0.30781 3.766000 0.55280 0.585000 0.29608 0.173000 0.16961 TGT ZNF99-201 KNOWN basic|appris_principal protein_coding protein_coding - ENST00000397104.3 Missense_Mutation SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 A2M 2 broad.mit.edu 37 12 9256869 9256869 + Missense_Mutation SNP G G C TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr12:9256869G>C ENST00000318602.7 - 11.0 1539 c.1232C>G c.(1231-1233)aCc>aGc p.T411S NM_000014.4 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin 411.0 blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863) blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093) calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120) 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) 77.0 Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888) AACATTGGTGGTGTTGATAGA 0.403 0 150.0 148.0 148.0 12 9256869.0 1932.0 4141.0 6073.0 SO:0001583 missense BX647329, X68728, M11313 CCDS44827.1 12p13.31 2010-02-24 ENSG00000175899 ENSG00000175899 2.0 2.0 7.0 protein-coding gene gene with protein product 103950.0 Standard NM_000014 XM_006719056 Approved FWP007, S863-7, CPAMD5 uc001qvk.1 P01023 OTTHUMG00000150267 ENST00000318602.7:c.1232C>G 12.__UNKNOWN__:g.9256869G>C ENSP00000323929:p.Thr411Ser Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97 __UNKNOWN__ CCDS44827.1 . . . . . . . . . . G 17.83 3.485061 0.63962 . . ENSG00000175899 ENST00000318602;ENST00000540099 T 0.35973 1.28 5.51 5.51 0.81932 . 0.000000 0.85682 D 0.000000 T 0.68668 0.3026 M 0.92219 3.285 0.33491 D 0.588744 D 0.89917 1.0 D 0.91635 0.999 T 0.81450 -0.0927 10 0.66056 D 0.02 . 15.2722 0.73712 0.0:0.0:1.0:0.0 . 411 P01023 A2MG_HUMAN S 411;426 ENSP00000323929:T411S ENSP00000323929:T411S T - 2 0 A2M 9148136 1.000000 0.71417 0.996000 0.52242 0.485000 0.33311 3.931000 0.56529 2.736000 0.93811 0.655000 0.94253 ACC A2M-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317233.2 - ENST00000318602.7 Missense_Mutation SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 KRTAP4-2 85291 broad.mit.edu 37 17 39334038 39334038 + Missense_Mutation SNP G G A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr17:39334038G>A ENST00000377726.2 - 1.0 422 c.379C>T c.(379-381)Cgc>Tgc p.R127C NM_033062.3 NP_149051 Q9BYR5 KRA42_HUMAN keratin associated protein 4-2 127.0 20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament (GO:0045095) kidney(2)|lung(4)|upper_aerodigestive_tract(1) 7.0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) CAGGTTGGGCGGCAGCAGGTG 0.582 0 G CYS/ARG 1,4397 0,1,2198 93.0 109.0 104.0 379 -1.9 0.1 17 104.0 0,8594 0,0,4297 no missense KRTAP4-2 NM_033062.3 180 0,1,6495 AA,AG,GG 0.0,0.0227,0.0077 benign 127/137 39334038.0 1,12991 2199.0 4297.0 6496.0 SO:0001583 missense AJ406934 CCDS11384.1 17q21.2 2013-06-25 ENSG00000244537 ENSG00000244537 85291.0 85291.0 """Keratin associated proteins""" 18900.0 protein-coding gene gene with protein product 11279113 Standard NM_033062 Approved KAP4.2 uc002hwd.3 Q9BYR5 OTTHUMG00000133437 ENST00000377726.2:c.379C>T 17.__UNKNOWN__:g.39334038G>A ENSP00000366955:p.Arg127Cys A0JP64 __UNKNOWN__ CCDS11384.1 . . . . . . . . . . . 11.98 1.799188 0.31777 2.27E-4 0.0 ENSG00000244537 ENST00000377726;ENST00000458321 T 0.00637 6.05 4.12 -1.9 0.07665 . 0.672907 0.10691 U 0.645180 T 0.01124 0.0037 M 0.85373 2.75 0.35938 D 0.833009 B 0.12013 0.005 B 0.08055 0.003 T 0.25882 -1.0119 10 0.66056 D 0.02 . 4.3553 0.11176 0.4649:0.0:0.3806:0.1545 . 127 Q9BYR5 KRA42_HUMAN C 127;244 ENSP00000366955:R127C ENSP00000366955:R127C R - 1 0 KRTAP4-2 36587564 0.705000 0.27846 0.062000 0.19696 0.039000 0.13416 -0.873000 0.04214 -0.611000 0.05709 -0.362000 0.07510 CGC KRTAP4-2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257305.1 - ENST00000377726.2 Missense_Mutation SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 NEDD4 4734 broad.mit.edu 37 15 56142797 56142797 + Silent SNP C C T TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr15:56142797C>T ENST00000506154.1 - 10.0 2775 c.2499G>A c.(2497-2499)cgG>cgA p.R833R NEDD4_ENST00000338963.2_Silent_p.R777R|NEDD4_ENST00000508342.1_Silent_p.R849R|NEDD4_ENST00000435532.3_Silent_p.R430R NM_001284339.1 NP_001271268.1 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 849.0 Mediates interaction with TNIK. {ECO:0000250}. adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162) apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151) beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842) 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) 43.0 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) TTGGTGCATGCCGGACTTCCC 0.453 0 175.0 186.0 182.0 15 56142797.0 2193.0 4292.0 6485.0 SO:0001819 synonymous_variant D42055 CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1 15q 2012-02-23 2012-02-23 ENSG00000069869 ENSG00000069869 4734.0 4734.0 7727.0 protein-coding gene gene with protein product """receptor-potentiating factor 1""" 602278.0 """neural precursor cell expressed, developmentally down-regulated 4""" 9073511, 8649367 Standard NM_198400 XR_243101 Approved KIAA0093, MGC176705, NEDD4-1, RPF1 uc002adi.3 P46934 OTTHUMG00000132015 ENST00000506154.1:c.2499G>A 15.__UNKNOWN__:g.56142797C>T A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89 __UNKNOWN__ . . . . . . . . . . C 0.614 -0.823869 0.02755 . . ENSG00000069869 ENST00000508871 . . . 5.45 -0.523 0.11924 . . . . . T 0.50565 0.1623 . . . 0.80722 D 1 . . . . . . T 0.37596 -0.9699 4 . . . . 5.4306 0.16450 0.0:0.3682:0.2525:0.3793 . . . . D 440 . . G - 2 0 NEDD4 53930089 0.974000 0.33945 0.982000 0.44146 0.001000 0.01503 0.073000 0.14640 -0.121000 0.11787 -1.151000 0.01829 GGC NEDD4-003 KNOWN basic|exp_conf protein_coding protein_coding OTTHUMT00000359818.1 - ENST00000506154.1 Silent SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 TELO2 9894 broad.mit.edu 37 16 1551468 1551468 + Silent SNP C C G TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr16:1551468C>G ENST00000262319.6 + 10.0 1608 c.1329C>G c.(1327-1329)ccC>ccG p.P443P NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 443.0 regulation of TOR signaling (GO:0032006) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932) protein complex binding (GO:0032403) NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19.0 Hepatocellular(780;0.219) TGGCCTCCCCCCAGCCTGCGG 0.701 0 32.0 31.0 31.0 16 1551468.0 2196.0 4298.0 6494.0 SO:0001819 synonymous_variant AL080126 CCDS32363.1 16p13.3 2013-08-06 2013-08-06 ENSG00000100726 ENSG00000100726 9894.0 9894.0 29099.0 protein-coding gene gene with protein product 611140.0 """TEL2, telomere maintenance 2, homolog (S. cerevisiae)""" 9734811, 11230166, 12670948 Standard NM_016111 NM_016111 Approved KIAA0683, hCLK2, TEL2 uc002cly.3 Q9Y4R8 OTTHUMG00000044471 ENST00000262319.6:c.1329C>G 16.__UNKNOWN__:g.1551468C>G D3DU73|O75168|Q7LDV4|Q9BR21 __UNKNOWN__ CCDS32363.1 TELO2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000103602.2 + ENST00000262319.6 Silent SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 ZC3H12A 80149 broad.mit.edu 37 1 37948042 37948042 + Missense_Mutation SNP C C T TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr1:37948042C>T ENST00000373087.6 + 5.0 942 c.826C>T c.(826-828)Ccc>Tcc p.P276S NM_025079.2 NP_079355.2 zinc finger CCCH-type containing 12A NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21.0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CAGGTTTATGCCCCCTGATGA 0.592 0 80.0 92.0 88.0 1 37948042.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS417.1 1p34.3 2012-07-05 ENSG00000163874 ENSG00000163874 80149.0 80149.0 """Zinc fingers, CCCH-type domain containing""" 26259.0 protein-coding gene gene with protein product """MCP induced protein 1""" 610562.0 18178554, 22055188 Standard NM_025079 NM_025079 Approved FLJ23231, MCPIP1 uc001cbb.4 Q5D1E8 OTTHUMG00000004221 ENST00000373087.6:c.826C>T 1.__UNKNOWN__:g.37948042C>T ENSP00000362179:p.Pro276Ser __UNKNOWN__ CCDS417.1 . . . . . . . . . . C 21.4 4.146008 0.77888 . . ENSG00000163874 ENST00000373087;ENST00000373082 T 0.44083 0.93 5.05 5.05 0.67936 Ribonuclease Zc3h12a-like (1); 0.000000 0.85682 D 0.000000 T 0.73837 0.3638 M 0.92970 3.365 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 T 0.81446 -0.0929 10 0.87932 D 0 -25.2062 18.7673 0.91878 0.0:1.0:0.0:0.0 . 276 Q5D1E8 ZC12A_HUMAN S 276 ENSP00000362179:P276S ENSP00000362174:P276S P + 1 0 ZC3H12A 37720629 1.000000 0.71417 1.000000 0.80357 0.387000 0.30353 7.729000 0.84864 2.477000 0.83638 0.563000 0.77884 CCC ZC3H12A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000012154.2 + ENST00000373087.6 Missense_Mutation SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 PHLDB2 90102 broad.mit.edu 37 3 111603238 111603238 + Missense_Mutation SNP T T C TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr3:111603238T>C ENST00000431670.2 + 2.0 725 c.314T>C c.(313-315)aTg>aCg p.M105T PHLDB2_ENST00000477695.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000393925.3_Missense_Mutation_p.M105T|PHLDB2_ENST00000481953.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000393923.3_Missense_Mutation_p.M132T|PHLDB2_ENST00000478922.1_Missense_Mutation_p.M105T NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 105.0 cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55.0 AATATTCCTATGAAACCTCCA 0.463 0 214.0 233.0 227.0 3 111603238.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS2962.1, CCDS46885.1, CCDS46886.1 3q13.13 2013-01-10 ENSG00000144824 ENSG00000144824 90102.0 90102.0 """Pleckstrin homology (PH) domain containing""" 29573.0 protein-coding gene gene with protein product 610298.0 12376540 Standard NM_145753 NM_145753 Approved LL5beta, FLJ21791, LL5b uc003dyg.3 Q86SQ0 OTTHUMG00000159282 ENST00000431670.2:c.314T>C 3.__UNKNOWN__:g.111603238T>C ENSP00000405405:p.Met105Thr A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5 __UNKNOWN__ CCDS46886.1 . . . . . . . . . . T 0.004 -2.271473 0.00257 . . ENSG00000144824 ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953 T;T;T;T;T;T 0.28895 1.59;1.61;1.6;1.6;1.61;1.6 5.77 0.68 0.17980 . 1.047270 0.07356 N 0.883269 T 0.11623 0.0283 N 0.08118 0 0.23144 N 0.998229 B;B;B;B;B 0.09022 0.0;0.0;0.002;0.0;0.0 B;B;B;B;B 0.06405 0.0;0.0;0.002;0.0;0.0 T 0.32268 -0.9913 10 0.02654 T 1 . 3.5088 0.07700 0.1625:0.2881:0.0:0.5494 . 105;105;105;105;132 Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3 PHLB2_HUMAN;.;.;.;. T 132;132;105;105;105;105;105;105;105 ENSP00000377500:M132T;ENSP00000405405:M105T;ENSP00000405292:M105T;ENSP00000418296:M105T;ENSP00000377502:M105T;ENSP00000418319:M105T ENSP00000352764:M132T M + 2 0 PHLDB2 113085928 0.616000 0.27035 0.928000 0.36995 0.288000 0.27193 0.051000 0.14141 0.549000 0.28973 0.533000 0.62120 ATG PHLDB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000354337.1 + ENST00000431670.2 Missense_Mutation SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 TRPM1 4308 broad.mit.edu 37 15 31362169 31362169 + Missense_Mutation SNP C C A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr15:31362169C>A ENST00000256552.6 - 4.0 427 TRPM1_ENST00000397795.2_Intron|TRPM1_ENST00000559179.1_Missense_Mutation_p.S93I|TRPM1_ENST00000542188.1_Intron NM_001252024.1 NP_001238953.1 transient receptor potential cation channel, subfamily M, member 1 NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99.0 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CAGTTTGGGGCTGGGAGACTG 0.463 0 SO:0001627 intron_variant AF071787 CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1 15q13.3 2014-01-28 2002-01-18 ENSG00000134160 ENSG00000134160 4308.0 4308.0 """Voltage-gated ion channels / Transient receptor potential cation channels""" 7146.0 protein-coding gene gene with protein product 603576.0 """melastatin 1""" MLSN1 9806836, 9537257, 16382100 Standard NM_002420 NM_001252020 Approved LTRPC1, CSNB1C uc021sia.1 Q7Z4N2 OTTHUMG00000129267 ENST00000256552.6:c.279+64G>T 15.__UNKNOWN__:g.31362169C>A __UNKNOWN__ CCDS58346.1 TRPM1-004 PUTATIVE basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000417166.2 - ENST00000256552.6 Intron SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 MTHFD2P1 0 broad.mit.edu 37 3 95374420 95374420 + RNA SNP A A G TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr3:95374420A>G ENST00000494840.1 - 0.0 1441 NR_077228.1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1 CTGGAGAAAAAGCATTGCAGA 0.413 0 3q11.2 2013-06-19 ENSG00000244681 ENSG00000244681 100287639.0 100287639.0 48859.0 pseudogene pseudogene Standard NR_077228 Approved OTTHUMG00000159027 ENST00000494840.1: 3.__UNKNOWN__:g.95374420A>G __UNKNOWN__ MTHFD2P1-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000352943.1 - ENST00000494840.1 RNA SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 TTN 7273 broad.mit.edu 37 2 179469737 179469737 + Missense_Mutation SNP C C T TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr2:179469737C>T ENST00000589042.1 - 280.0 54391 c.54167G>A c.(54166-54168)cGa>cAa p.R18056Q TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15488Q|TTN_ENST00000359218.5_Missense_Mutation_p.R9116Q|TTN_ENST00000460472.2_Missense_Mutation_p.R8991Q|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9183Q|TTN_ENST00000591111.1_Missense_Mutation_p.R16415Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16415.0 Fibronectin type-III 31. {ECO:0000255|PROSITE-ProRule:PRU00316}. adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) 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) 1448.0 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGAACATTTCGGAACACTGA 0.438 0 C GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG 0,3884 0,0,1942 259.0 241.0 247.0 26972,46463,27347,27548 5.1 1.0 2 247.0 1,8263 0,1,4131 no missense,missense,missense,missense TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 43,43,43,43 0,1,6073 TT,TC,CC 0.0121,0.0,0.0082 possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging 8991/26927,15488/33424,9116/27052,9183/27119 179469737.0 1,12147 1942.0 4132.0 6074.0 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273.0 7273.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403.0 protein-coding gene gene with protein product 188840.0 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_133378 NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.54167G>A 2.__UNKNOWN__:g.179469737C>T ENSP00000467141:p.Arg18056Gln A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 __UNKNOWN__ CCDS59435.1 . . . . . . . . . . C 14.53 2.563247 0.45694 0.0 1.21E-4 ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.66638 -0.22;-0.22;-0.22;-0.22 5.95 5.07 0.68467 Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.53126 0.1777 L 0.31476 0.935 0.44652 D 0.997631 P;P;P;P 0.46142 0.873;0.873;0.873;0.774 B;B;B;B 0.35655 0.207;0.207;0.207;0.207 T 0.60959 -0.7159 9 0.87932 D 0 . 15.0246 0.71659 0.0:0.9319:0.0:0.0681 . 8991;9116;9183;16415 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN Q 15488;8991;9183;9116;8991 ENSP00000343764:R15488Q;ENSP00000434586:R8991Q;ENSP00000340554:R9183Q;ENSP00000352154:R9116Q ENSP00000340554:R9183Q R - 2 0 TTN 179177982 1.000000 0.71417 1.000000 0.80357 0.978000 0.69477 3.754000 0.55189 1.517000 0.48917 0.563000 0.77884 CGA TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 - ENST00000589042.1 Missense_Mutation SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 OR6Y1 391112 broad.mit.edu 37 1 158517139 158517139 + Missense_Mutation SNP C C T TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr1:158517139C>T ENST00000302617.3 - 1.0 756 c.757G>A c.(757-759)Gta>Ata p.V253I NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 253.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30.0 all_hematologic(112;0.0378) AAGAGAATTACGACGGTCAGG 0.507 0 182.0 175.0 178.0 1 158517139.0 2203.0 4300.0 6503.0 SO:0001583 missense BK004192 CCDS30899.1 1q23.1 2012-08-09 ENSG00000197532 ENSG00000197532 391112.0 391112.0 """GPCR / Class A : Olfactory receptors""" 14823.0 protein-coding gene gene with protein product OR6Y2 Standard NM_001005189 NM_001005189 Approved uc010pil.2 Q8NGX8 OTTHUMG00000019629 ENST00000302617.3:c.757G>A 1.__UNKNOWN__:g.158517139C>T ENSP00000304807:p.Val253Ile Q6IFS0 __UNKNOWN__ CCDS30899.1 . . . . . . . . . . C 17.08 3.296578 0.60086 . . ENSG00000197532 ENST00000302617 T 0.00340 8.04 5.34 5.34 0.76211 GPCR, rhodopsin-like superfamily (1); 0.000000 0.38005 N 0.001850 T 0.00412 0.0013 M 0.78344 2.41 0.09310 N 1 D 0.89917 1.0 D 0.91635 0.999 T 0.48969 -0.8987 10 0.62326 D 0.03 . 13.5049 0.61479 0.1568:0.8431:0.0:0.0 . 253 Q8NGX8 OR6Y1_HUMAN I 253 ENSP00000304807:V253I ENSP00000304807:V253I V - 1 0 OR6Y1 156783763 0.544000 0.26441 0.885000 0.34714 0.927000 0.56198 1.332000 0.33805 2.763000 0.94921 0.655000 0.94253 GTA OR6Y1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051844.1 - ENST00000302617.3 Missense_Mutation SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 SLC25A23 79085 broad.mit.edu 37 19 6454709 6454709 + Missense_Mutation SNP C C A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr19:6454709C>A ENST00000301454.4 - 5.0 609 c.503G>T c.(502-504)tGc>tTc p.C168F SLC25A23_ENST00000334510.5_Missense_Mutation_p.C168F NM_024103.2 NP_077008.2 Q9BV35 SCMC3_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 168.0 adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) calcium ion binding (GO:0005509) endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1) 17.0 CACTGTCAGGCACTCGCCAAT 0.582 0 55.0 49.0 51.0 19 6454709.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ619962 CCDS32882.1 19p13.1 2014-02-06 ENSG00000125648 ENSG00000125648 79085.0 79085.0 """Solute carriers"", ""EF-hand domain containing""" 19375.0 protein-coding gene gene with protein product 608746.0 15123600 Standard NM_024103 NM_024103 Approved FLJ30339, MGC2615, APC2 uc002mex.1 Q9BV35 OTTHUMG00000180852 ENST00000301454.4:c.503G>T 19.__UNKNOWN__:g.6454709C>A ENSP00000301454:p.Cys168Phe B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4 __UNKNOWN__ CCDS32882.1 . . . . . . . . . . C 7.837 0.721135 0.15372 . . ENSG00000125648 ENST00000264088;ENST00000301454;ENST00000334510 T;T;T 0.76968 -1.04;-1.06;-0.91 5.79 3.64 0.41730 . 0.521572 0.23682 N 0.045604 T 0.61924 0.2386 N 0.25647 0.755 0.32996 D 0.525578 B 0.22414 0.069 B 0.14578 0.011 T 0.63594 -0.6602 10 0.62326 D 0.03 -32.7254 5.6294 0.17501 0.1451:0.6394:0.1401:0.0754 . 168 Q9BV35 SCMC3_HUMAN F 215;168;168 ENSP00000264088:C215F;ENSP00000301454:C168F;ENSP00000334537:C168F ENSP00000264088:C215F C - 2 0 SLC25A23 6405709 1.000000 0.71417 0.988000 0.46212 0.071000 0.16799 1.403000 0.34612 0.773000 0.33404 0.655000 0.94253 TGC SLC25A23-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000453325.1 - ENST00000301454.4 Missense_Mutation SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 FAM179B 23116 broad.mit.edu 37 14 45523651 45523651 + Silent SNP A A G TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr14:45523651A>G ENST00000361462.2 + 16.0 4641 c.4458A>G c.(4456-4458)ccA>ccG p.P1486P FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Silent_p.P1433P Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 1433.0 endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45.0 GGGAGATACCATTAGATACTC 0.323 0 84.0 81.0 82.0 14 45523651.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB007883 CCDS9681.1 14q21.3 2008-07-21 2008-07-21 2008-07-21 ENSG00000198718 ENSG00000198718 23116.0 23116.0 19959.0 protein-coding gene gene with protein product """KIAA0423""" KIAA0423 Standard XM_113781 XM_005267451 Approved uc001wvv.3 Q9Y4F4 OTTHUMG00000140264 ENST00000361462.2:c.4458A>G 14.__UNKNOWN__:g.45523651A>G Q68D66|Q6PG27 __UNKNOWN__ FAM179B-002 NOVEL basic|appris_principal protein_coding protein_coding OTTHUMT00000276792.1 + ENST00000361462.2 Silent SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 IL19 29949 broad.mit.edu 37 1 207014409 207014409 + Missense_Mutation SNP G G A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr1:207014409G>A ENST00000270218.6 + 6.0 1363 c.424G>A c.(424-426)Gac>Aac p.D142N IL19_ENST00000340758.2_Missense_Mutation_p.D180N NM_013371.3 NP_037503.2 Q9UHD0 IL19_HUMAN interleukin 19 142.0 apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165) extracellular region (GO:0005576)|extracellular space (GO:0005615) cytokine activity (GO:0005125) central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 7.0 BRCA - Breast invasive adenocarcinoma(75;0.211) AGTCATCCATGACAACTATGA 0.512 0 119.0 91.0 100.0 1 207014409.0 2203.0 4300.0 6503.0 SO:0001583 missense AF192498 CCDS1468.1, CCDS1469.1 1q32.2 2008-07-18 ENSG00000142224 ENSG00000142224 29949.0 29949.0 """Interleukins and interleukin receptors""" 5990.0 protein-coding gene gene with protein product """melanoma differentiation associated protein-like protein""" 605687.0 11196675 Standard NM_153758 NM_153758 Approved IL-19, MDA1, ZMDA1, IL-10C, NG.1 uc001heo.3 Q9UHD0 OTTHUMG00000036387 ENST00000270218.6:c.424G>A 1.__UNKNOWN__:g.207014409G>A ENSP00000270218:p.Asp142Asn B6VEV9|Q5VUT3|Q96QR4|Q9NUA0 __UNKNOWN__ CCDS1469.1 . . . . . . . . . . G 6.861 0.528254 0.13127 . . ENSG00000142224 ENST00000340758;ENST00000270218 T;T 0.16743 2.32;2.32 5.71 -1.02 0.10135 Four-helical cytokine-like, core (1);Four-helical cytokine, core (1); 1.361790 0.04145 N 0.320234 T 0.16727 0.0402 L 0.57536 1.79 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.09377 0.004;0.004 T 0.40327 -0.9569 10 0.07813 T 0.8 . 9.4711 0.38842 0.6398:0.0:0.3602:0.0 . 142;180 Q9UHD0;Q5VUT3 IL19_HUMAN;. N 180;142 ENSP00000343000:D180N;ENSP00000270218:D142N ENSP00000270218:D142N D + 1 0 IL19 205081032 0.004000 0.15560 0.046000 0.18839 0.160000 0.22226 0.077000 0.14738 -0.090000 0.12462 0.591000 0.81541 GAC IL19-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000088567.2 + ENST00000270218.6 Missense_Mutation SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 CGGBP1 8545 broad.mit.edu 37 3 88104673 88104673 + Missense_Mutation SNP G G T TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr3:88104673G>T ENST00000398392.2 - 1.0 1786 c.454C>A c.(454-456)Cct>Act p.P152T CGGBP1_ENST00000482016.1_Missense_Mutation_p.P152T|CGGBP1_ENST00000462901.1_Missense_Mutation_p.P152T|CGGBP1_ENST00000309534.6_Missense_Mutation_p.P152T Q9UFW8 CGBP1_HUMAN CGG triplet repeat binding protein 1 152.0 negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227) kidney(1)|large_intestine(2)|lung(2) 5.0 Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677) TATCCATCAGGAAGATATGCC 0.448 0 133.0 126.0 128.0 3 88104673.0 1950.0 4160.0 6110.0 SO:0001583 missense AJ000258 CCDS43111.1 3p12-p11.1 2008-07-18 ENSG00000163320 ENSG00000163320 8545.0 8545.0 1888.0 protein-coding gene gene with protein product """p20-CGG binding protein""" 603363.0 9201980, 14667814 Standard NM_001008390 NM_001195308 Approved p20-CGGBP, CGGBP uc003dqt.3 Q9UFW8 OTTHUMG00000159009 ENST00000398392.2:c.454C>A 3.__UNKNOWN__:g.88104673G>T ENSP00000381429:p.Pro152Thr D3DU38|O15183 __UNKNOWN__ CCDS43111.1 . . . . . . . . . . G 15.64 2.894465 0.52121 . . ENSG00000163320 ENST00000309534;ENST00000398392;ENST00000482016;ENST00000462901 . . . 5.7 5.7 0.88788 . 0.000000 0.38959 U 0.001505 T 0.63177 0.2489 L 0.27053 0.805 0.45118 D 0.998133 D 0.69078 0.997 D 0.68483 0.958 T 0.56890 -0.7904 9 0.21540 T 0.41 -8.68 17.0533 0.86525 0.0:0.0:1.0:0.0 . 152 Q9UFW8 CGBP1_HUMAN T 152 . ENSP00000381428:P152T P - 1 0 CGGBP1 88187363 1.000000 0.71417 1.000000 0.80357 0.923000 0.55619 6.234000 0.72326 2.711000 0.92665 0.650000 0.86243 CCT CGGBP1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352955.1 - ENST00000398392.2 Missense_Mutation SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 PPIG 9360 broad.mit.edu 37 2 170492941 170492945 + Frame_Shift_Del DEL AAAAG AAAAG - TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr2:170492941_170492945delAAAAG ENST00000260970.3 + 14.0 1393_1397 c.1173_1177delAAAAG c.(1171-1179)ataaaagaafs p.KE392fs PPIG_ENST00000448752.2_Frame_Shift_Del_p.KE392fs|PPIG_ENST00000409714.3_Frame_Shift_Del_p.KE377fs|PPIG_ENST00000482772.1_3'UTR NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 392.0 protein folding (GO:0006457)|RNA splicing (GO:0008380) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822) 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) 43.0 L-Proline(DB00172) TGAATGAAATAAAAGAAAATCAGAG 0.288 0 SO:0001589 frameshift_variant X99717 CCDS2235.1 2q31.1 2010-07-23 2006-01-12 ENSG00000138398 ENSG00000138398 9360.0 9360.0 6.1.1.16 14650.0 protein-coding gene gene with protein product """SR-related CTD-associated factor 10""" 606093.0 """peptidyl-prolyl isomerase G (cyclophilin G)""" 8973360, 9153302 Standard NM_004792 Approved CARS-Cyp, SRCyp, SCAF10 uc002uez.3 Q13427 OTTHUMG00000132206 ENST00000260970.3:c.1173_1177delAAAAG 2.__UNKNOWN__:g.170492941_170492945delAAAAG ENSP00000260970:p.Lys392fs D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9 __UNKNOWN__ CCDS2235.1 PPIG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255264.2 + ENST00000260970.3 Frame_Shift_Del DEL PCPG-TCGA-QR-A708-Normal-SM-5EQH4 OR9G4 283189 broad.mit.edu 37 11 56511186 56511186 + Frame_Shift_Del DEL T T - TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr11:56511186delT ENST00000302957.3 - 1.0 101 c.102delA c.(100-102)gcafs p.A34fs NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 34.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) 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) 34.0 ACTGGGAATCTGCTGAGAAAC 0.433 0 76.0 70.0 72.0 11 56511186.0 2201.0 4296.0 6497.0 SO:0001589 frameshift_variant BK004400 CCDS31537.1 11q11 2012-08-09 ENSG00000172457 ENSG00000172457 283189.0 283189.0 """GPCR / Class A : Olfactory receptors""" 15322.0 protein-coding gene gene with protein product Standard NM_001005284 NM_001005284 Approved uc010rjo.2 Q8NGQ1 OTTHUMG00000166932 ENST00000302957.3:c.102delA 11.__UNKNOWN__:g.56511186delT ENSP00000307515:p.Ala34fs Q6IF62|Q96RA9 __UNKNOWN__ CCDS31537.1 OR9G4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000391945.1 - ENST00000302957.3 Frame_Shift_Del DEL PCPG-TCGA-QR-A708-Normal-SM-5EQH4 CFDP1 10428 bcgsc.ca 37 16 75445738 75445738 + Missense_Mutation SNP G G A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr16:75445738G>A ENST00000283882.3 - 4.0 647 c.515C>T c.(514-516)gCt>gTt p.A172V CFDP1_ENST00000564286.1_5'UTR NM_006324.2 NP_006315.1 Q9UEE9 CFDP1_HUMAN craniofacial development protein 1 172.0 cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360) endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5.0 TTCTTCACCAGCAAAATCAAA 0.353 0 109.0 100.0 103.0 16 75445738.0 2198.0 4298.0 6496.0 SO:0001583 missense AB009285 CCDS10916.1 16q22.2-q22.3 2011-08-12 ENSG00000153774 ENSG00000153774 10428.0 10428.0 1873.0 protein-coding gene gene with protein product """Bucentaur"", ""centromere protein 29""" 608108 9602175, 9006920, 11992732 Standard NM_006324 NM_006324 Approved BCNT, p97, CP27, SWC5, Yeti, CENP-29 uc002fdy.3 Q9UEE9 OTTHUMG00000137615 ENST00000283882.3:c.515C>T 16.__UNKNOWN__:g.75445738G>A ENSP00000283882:p.Ala172Val O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8 __UNKNOWN__ CCDS10916.1 . . . . . . . . . . G 24.7 4.562505 0.86335 . . ENSG00000153774 ENST00000283882 T 0.77489 -1.1 5.99 5.99 0.97316 . 0.000000 0.85682 D 0.000000 D 0.88786 0.6531 M 0.82323 2.585 0.48696 D 0.999694 D;D 0.89917 1.0;1.0 D;D 0.76071 0.987;0.969 D 0.89612 0.3842 10 0.87932 D 0 -10.5826 15.9778 0.80083 0.0:0.0:1.0:0.0 . 172;172 B2R9W9;Q9UEE9 .;CFDP1_HUMAN V 172 ENSP00000283882:A172V ENSP00000283882:A172V A - 2 0 CFDP1 74003239 1.000000 0.71417 1.000000 0.80357 0.945000 0.59286 5.674000 0.68117 2.840000 0.97914 0.655000 0.94253 GCT CFDP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269031.2 - ENST00000283882.3 Missense_Mutation SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 FRAS1 80144 bcgsc.ca 37 4 79321912 79321912 + Missense_Mutation SNP G G A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr4:79321912G>A ENST00000325942.6 + 30.0 4440 c.4000G>A c.(4000-4002)Gct>Act p.A1334T FRAS1_ENST00000264895.6_Missense_Mutation_p.A1334T NM_001166133.1 NP_001159605.1 Q86XX4 FRAS1_HUMAN Fraser extracellular matrix complex subunit 1 1334.0 cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618) metal ion binding (GO:0046872) 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) 103.0 TCAGCTTGTGGCTAATTCGAT 0.423 0 49.0 50.0 50.0 4 79321912.0 1876.0 4115.0 5991.0 SO:0001583 missense AB040933 CCDS54772.1 4q21.21 2014-06-25 2014-06-25 ENSG00000138759 ENSG00000138759 80144.0 80144.0 19185.0 protein-coding gene gene with protein product 607830 """Fraser syndrome 1""" 12766769, 3118036 Standard NM_025074 Approved FLJ22031, FLJ14927, KIAA1500 uc003hlb.2 Q86XX4 OTTHUMG00000160856 ENST00000325942.6:c.4000G>A 4.__UNKNOWN__:g.79321912G>A ENSP00000326330:p.Ala1334Thr A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228 __UNKNOWN__ CCDS54772.1 . . . . . . . . . . G 9.572 1.121249 0.20877 . . ENSG00000138759 ENST00000325942;ENST00000264895 T;T 0.29655 1.56;1.56 5.45 4.6 0.57074 . 0.199593 0.44097 N 0.000484 T 0.14442 0.0349 N 0.17345 0.48 0.80722 D 1 B;B 0.15141 0.007;0.012 B;B 0.14578 0.011;0.007 T 0.09164 -1.0687 10 0.08599 T 0.76 . 5.1291 0.14899 0.1926:0.1732:0.6341:0.0 . 1334;1334 E9PHH6;A2RRR8 .;. T 1334 ENSP00000326330:A1334T;ENSP00000264895:A1334T ENSP00000264895:A1334T A + 1 0 FRAS1 79540936 0.999000 0.42202 1.000000 0.80357 0.906000 0.53458 1.255000 0.32909 1.279000 0.44446 0.591000 0.81541 GCT FRAS1-001 NOVEL basic|CCDS protein_coding protein_coding OTTHUMT00000362706.2 + ENST00000325942.6 Missense_Mutation SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 Unknown 139163 bcgsc.ca 37 X 49433001 49433001 + RNA SNP C C A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chrX:49433001C>A GAGE1 (62043 upstream) : PAGE1 (19051 downstream) TCCATGGACTCTTCCCTGTCA 0.507 0 SO:0001628 intergenic_variant X.__UNKNOWN__:g.49433001C>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 PCLO 27445 ucsc.edu 37 7 82457236 82457236 + Missense_Mutation SNP G G A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr7:82457236G>A ENST00000333891.9 - 17.0 14633 c.14296C>T c.(14296-14298)Cct>Tct p.P4766S PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Missense_Mutation_p.P4766S NM_033026.5 NP_149015.2 piccolo presynaptic cytomatrix protein 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) 259.0 TTCCACTCAGGATTAAGACTT 0.333 0 99.0 92.0 94.0 7 82457236.0 1820.0 4073.0 5893.0 SO:0001583 missense AB011131 CCDS47630.1, CCDS47631.1 7q11.23-q21.3 2013-01-07 2013-01-07 ENSG00000186472 ENSG00000186472 27445.0 27445.0 13406.0 protein-coding gene gene with protein product """aczonin""" 604918 """piccolo (presynaptic cytomatrix protein)""" 8900486, 9628581 Standard NM_014510 NM_014510 Approved KIAA0559, DKFZp779G1236, ACZ uc003uhx.2 Q9Y6V0 OTTHUMG00000154853 ENST00000333891.9:c.14296C>T 7.__UNKNOWN__:g.82457236G>A ENSP00000334319:p.Pro4766Ser __UNKNOWN__ CCDS47630.1 . . . . . . . . . . G 15.47 2.843783 0.51164 . . ENSG00000186472 ENST00000333891;ENST00000423517;ENST00000380195 D;D 0.82711 -1.64;-1.64 4.94 4.94 0.65067 . . . . . D 0.94361 0.8187 H 0.96861 3.895 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 1.0;1.0;0.999;1.0 D 0.96414 0.9306 9 0.87932 D 0 . 17.7736 0.88500 0.0:0.0:1.0:0.0 . 4766;4766;187;254 Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40 .;.;.;. S 4766;4766;253 ENSP00000334319:P4766S;ENSP00000388393:P4766S ENSP00000334319:P4766S P - 1 0 PCLO 82295172 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 9.832000 0.99423 2.254000 0.74563 0.467000 0.42956 CCT PCLO-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337368.5 - ENST00000333891.9 Missense_Mutation SNP PCPG-TCGA-QR-A708-Normal-SM-5EQH4 FGFR2 2263 broad.mit.edu 37 10 123245036 123245036 + Missense_Mutation SNP C C T TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr10:123245036C>T ENST00000457416.2 - 16.0 2662 c.2071G>A c.(2071-2073)Ggg>Agg p.G691R FGFR2_ENST00000358487.5_Missense_Mutation_p.G690R|FGFR2_ENST00000369059.1_Missense_Mutation_p.G576R|FGFR2_ENST00000369060.4_Missense_Mutation_p.G574R|FGFR2_ENST00000356226.4_Missense_Mutation_p.G573R|FGFR2_ENST00000360144.3_Missense_Mutation_p.G602R|FGFR2_ENST00000346997.2_Missense_Mutation_p.G688R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G601R|FGFR2_ENST00000369056.1_Missense_Mutation_p.G691R|FGFR2_ENST00000369061.4_Missense_Mutation_p.G578R|FGFR2_ENST00000478859.1_Missense_Mutation_p.G462R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G688R NM_022970.3 NP_075259.4 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 690.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847) cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713) 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) 181.0 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)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041) ATTAACACCCCGAAGGACCAG 0.512 5.0 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome Dom yes 10 10q26 2263.0 fibroblast growth factor receptor 2 yes E 0 90.0 82.0 84.0 10 123245036.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s. AK026508 CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1 10q25.3-q26 2013-01-11 2008-08-01 ENSG00000066468 ENSG00000066468 2263.0 2263.0 """CD molecules"", ""Immunoglobulin superfamily / I-set domain containing""" 3689.0 protein-coding gene gene with protein product """Crouzon syndrome"", ""Pfeiffer syndrome""" 176943.0 """bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome""" KGFR, BEK, CFD1, JWS Standard NM_022976, NM_000141 NM_022970 Approved CEK3, TK14, TK25, ECT1, K-SAM, CD332 uc021pzy.1 P21802 OTTHUMG00000019175 ENST00000457416.2:c.2071G>A 10.__UNKNOWN__:g.123245036C>T ENSP00000410294:p.Gly691Arg B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0 __UNKNOWN__ CCDS7620.2 . . . . . . . . . . C 32 5.159076 0.94686 . . ENSG00000066468 ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553 D;D;D;D;D;D;D;D;D;D;D;D;D;D 0.99282 -5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68 5.17 5.17 0.71159 Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 D 0.99785 0.9910 H 0.99806 4.795 0.80722 D 1 D;D;D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D;D;D 0.97110 1.0;0.999;0.999;0.999;0.999;0.999;0.999;1.0 D 0.96539 0.9399 10 0.87932 D 0 . 19.0288 0.92946 0.0:1.0:0.0:0.0 . 707;689;601;573;690;602;691;593 D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3 .;.;.;.;FGFR2_HUMAN;.;.;. R 601;691;578;690;573;574;576;282;688;691;688;602;691;691;599 ENSP00000350166:G601R;ENSP00000358057:G578R;ENSP00000351276:G690R;ENSP00000348559:G573R;ENSP00000358056:G574R;ENSP00000358055:G576R;ENSP00000404219:G282R;ENSP00000263451:G688R;ENSP00000410294:G691R;ENSP00000309878:G688R;ENSP00000353262:G602R;ENSP00000358052:G691R;ENSP00000358054:G691R;ENSP00000337665:G599R ENSP00000337665:G599R G - 1 0 FGFR2 123235026 1.000000 0.71417 0.996000 0.52242 0.996000 0.88848 7.690000 0.84178 2.544000 0.85801 0.655000 0.94253 GGG FGFR2-010 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000050724.1 - ENST00000457416.2 Missense_Mutation SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF ANKHD1 54882 broad.mit.edu 37 5 139908666 139908666 + Silent SNP T T G TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr5:139908666T>G ENST00000360839.2 + 29.0 6289 c.6135T>G c.(6133-6135)tcT>tcG p.S2045S ANKHD1_ENST00000544120.1_Silent_p.S428S|ANKHD1_ENST00000297183.6_Silent_p.S2045S|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.S2045S NM_017747.2 NP_060217.1 Q8IWZ3 ANKH1_HUMAN ankyrin repeat and KH domain containing 1 2045.0 Ser-rich. cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60.0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTACCCCATCTTCAACTGCAA 0.512 0 102.0 108.0 106.0 5 139908666.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF521882 CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1 5q31.3 2013-01-10 ENSG00000131503 ENSG00000131503 54882.0 54882.0 """Ankyrin repeat domain containing""" 24714.0 protein-coding gene gene with protein product 610500.0 10470851, 11230166, 16098192 Standard NM_017747 NM_017747 Approved MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085 Q8IWZ3 OTTHUMG00000161610 ENST00000360839.2:c.6135T>G 5.__UNKNOWN__:g.139908666T>G A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7 __UNKNOWN__ CCDS4225.1 . . . . . . . . . . T 2.773 -0.255158 0.05829 . . ENSG00000131503 ENST00000435794;ENST00000432301 . . . 5.06 2.61 0.31194 . . . . . T 0.46737 0.1408 . . . 0.80722 D 1 . . . . . . T 0.29212 -1.0019 4 . . . . 3.8237 0.08846 0.1292:0.0716:0.1348:0.6644 . . . . V 536;496 . . F + 1 0 ANKHD1 139888850 0.998000 0.40836 1.000000 0.80357 0.852000 0.48524 0.462000 0.21956 0.387000 0.25024 0.533000 0.62120 TTC ANKHD1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000251672.1 + ENST00000360839.2 Silent SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF GPR128 84873 broad.mit.edu 37 3 100413790 100413790 + Missense_Mutation SNP C C G TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr3:100413790C>G ENST00000475887.1 + 10.0 1723 c.1454C>G c.(1453-1455)cCg>cGg p.P485R GPR128_ENST00000273352.3_Missense_Mutation_p.P780R|GPR128_ENST00000481506.1_3'UTR Q96K78 GP128_HUMAN G protein-coupled receptor 128 780.0 G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) p.P780L(1) 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) 56.0 GAAACCTCTCCGAGTACTGAG 0.443 Pancreas(87;185 1975 7223 18722) 1 Substitution - Missense(1) ovary(1) 124.0 119.0 120.0 3 100413790.0 2203.0 4300.0 6503.0 SO:0001583 missense AK027360 CCDS2938.1 3q12.3 2014-08-08 ENSG00000144820 ENSG00000144820 84873.0 84873.0 """-"", ""GPCR / Class B : Orphans""" 19241.0 protein-coding gene gene with protein product 612307.0 Standard NM_032787 Approved FLJ14454 uc003duc.3 Q96K78 OTTHUMG00000159083 ENST00000475887.1:c.1454C>G 3.__UNKNOWN__:g.100413790C>G ENSP00000419788:p.Pro485Arg Q14D94|Q86SQ2 __UNKNOWN__ . . . . . . . . . . c 0.719 -0.784364 0.02907 . . ENSG00000144820 ENST00000273352;ENST00000475887 T;T 0.38401 1.14;1.51 5.2 -10.4 0.00318 . 16.475400 0.00166 N 0.000000 T 0.14917 0.0360 N 0.19112 0.55 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.001 T 0.26985 -1.0087 10 0.10377 T 0.69 . 1.1229 0.01728 0.3686:0.2922:0.1868:0.1524 . 485;780 E9PHI0;Q96K78 .;GP128_HUMAN R 780;485 ENSP00000273352:P780R;ENSP00000419788:P485R ENSP00000273352:P780R P + 2 0 GPR128 101896480 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -4.539000 0.00219 -2.785000 0.00359 -4.252000 0.00008 CCG GPR128-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000353237.1 + ENST00000475887.1 Missense_Mutation SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF SLITRK4 139065 broad.mit.edu 37 X 142717979 142717979 + Missense_Mutation SNP C C A rs142699085 byFrequency TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chrX:142717979C>A ENST00000381779.4 - 2.0 1171 c.946G>T c.(946-948)Gtt>Ttt p.V316F SLITRK4_ENST00000338017.4_Missense_Mutation_p.V316F|SLITRK4_ENST00000356928.1_Missense_Mutation_p.V316F NM_001184749.2|NM_001184750.1|NM_173078.4 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 316.0 integral component of membrane (GO:0016021) autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60.0 Acute lymphoblastic leukemia(192;6.56e-05) TTGCCTGCAACGATTCCAGAG 0.473 0 C PHE/VAL,PHE/VAL,PHE/VAL 0,3835 0,0,0,1632,571 156.0 140.0 145.0 946,946,946 5.9 1.0 X dbSNP_134 145.0 1,6727 0,0,1,2428,1871 no missense,missense,missense SLITRK4 NM_001184749.1,NM_001184750.1,NM_173078.3 50,50,50 0,0,1,4060,2442 AA,AC,A,CC,C 0.0149,0.0,0.0095 probably-damaging,probably-damaging,probably-damaging 316/838,316/838,316/838 142717979.0 1,10562 2203.0 4300.0 6503.0 SO:0001583 missense BC040986 CCDS14679.1 Xq27.3 2004-06-23 ENSG00000179542 ENSG00000179542 139065.0 139065.0 23502.0 protein-coding gene gene with protein product 300562.0 14557068 Standard NM_173078 NM_001184749 Approved DKFZp547M2010 uc004fby.3 Q8IW52 OTTHUMG00000022580 ENST00000381779.4:c.946G>T X.__UNKNOWN__:g.142717979C>A ENSP00000371198:p.Val316Phe Q5JXG3|Q8TCM8|Q96DL3 __UNKNOWN__ CCDS14679.1 . . . . . . . . . . C 10.64 1.405941 0.25378 0.0 1.49E-4 ENSG00000179542 ENST00000381779;ENST00000356928;ENST00000338017 T;T;T 0.53857 0.6;0.6;0.6 5.88 5.88 0.94601 . 0.000000 0.85682 D 0.000000 T 0.45955 0.1368 L 0.29908 0.895 0.80722 D 1 B 0.33135 0.399 B 0.34346 0.18 T 0.45804 -0.9236 10 0.56958 D 0.05 -8.7004 17.551 0.87875 0.0:1.0:0.0:0.0 . 316 Q8IW52 SLIK4_HUMAN F 316 ENSP00000371198:V316F;ENSP00000349400:V316F;ENSP00000336627:V316F ENSP00000336627:V316F V - 1 0 SLITRK4 142545645 1.000000 0.71417 0.992000 0.48379 0.934000 0.57294 4.627000 0.61276 2.471000 0.83476 0.600000 0.82982 GTT SLITRK4-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058617.1 - ENST00000381779.4 Missense_Mutation SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF KCMF1 56888 broad.mit.edu 37 2 85276609 85276609 + Missense_Mutation SNP C C T TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr2:85276609C>T ENST00000409785.4 + 6.0 1081 c.722C>T c.(721-723)gCc>gTc p.A241V NM_020122.4 NP_064507.3 Q9P0J7 KCMF1_HUMAN potassium channel modulatory factor 1 241.0 ligase activity (GO:0016874)|zinc ion binding (GO:0008270) ovary(3) 3.0 CGGCAGCATGCCCAGGCAGCA 0.552 0 89.0 100.0 96.0 2 85276609.0 2190.0 4287.0 6477.0 SO:0001583 missense AF155652 CCDS46350.1 2p11.2 2010-11-23 ENSG00000176407 ENSG00000176407 56888.0 56888.0 """Zinc fingers, ZZ-type""" 20589.0 protein-coding gene gene with protein product 614719.0 Standard NM_020122 NM_020122 Approved DEBT91, PCMF, DKFZP434L1021, ZZZ1 uc002sox.4 Q9P0J7 OTTHUMG00000153004 ENST00000409785.4:c.722C>T 2.__UNKNOWN__:g.85276609C>T ENSP00000386738:p.Ala241Val Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8 __UNKNOWN__ CCDS46350.1 . . . . . . . . . . C 16.82 3.228303 0.58777 . . ENSG00000176407 ENST00000409785 T 0.42513 0.97 5.96 5.96 0.96718 Drought induced 19/ RING finger protein 114 (1); 0.000000 0.85682 D 0.000000 T 0.28797 0.0714 N 0.14661 0.345 0.80722 D 1 B 0.23442 0.085 B 0.28849 0.095 T 0.09729 -1.0661 10 0.07813 T 0.8 -10.879 17.9158 0.88950 0.0:1.0:0.0:0.0 . 241 Q9P0J7 KCMF1_HUMAN V 241 ENSP00000386738:A241V ENSP00000386738:A241V A + 2 0 KCMF1 85130120 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 7.442000 0.80503 2.832000 0.97577 0.655000 0.94253 GCC KCMF1-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000328942.4 + ENST00000409785.4 Missense_Mutation SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF ABCC4 10257 broad.mit.edu 37 13 95818472 95818472 + Silent SNP C C T TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr13:95818472C>T ENST00000376887.4 - 15.0 2088 c.1974G>A c.(1972-1974)tcG>tcA p.S658S ABCC4_ENST00000431522.1_Silent_p.S658S|ABCC4_ENST00000412704.1_Silent_p.S658S|ABCC4_ENST00000536256.1_Silent_p.S583S NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 658.0 blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088) 15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43.0 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495) GAGACCAAACCGAAGACTCTG 0.453 0 183.0 165.0 171.0 13 95818472.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U66682 CCDS9474.1 13q31 2012-03-14 ENSG00000125257 ENSG00000125257 10257.0 10257.0 """ATP binding cassette transporters / subfamily C""" 55.0 protein-coding gene gene with protein product """canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B""" 605250.0 8894702, 9661885 Standard NM_005845 NM_005845 Approved MRP4, EST170205, MOAT-B, MOATB uc001vmd.4 O15439 OTTHUMG00000017216 ENST00000376887.4:c.1974G>A 13.__UNKNOWN__:g.95818472C>T A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2 __UNKNOWN__ CCDS9474.1 ABCC4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045478.2 - ENST00000376887.4 Silent SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF ABHD8 79575 broad.mit.edu 37 19 17412054 17412054 + Silent SNP C C T TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr19:17412054C>T ENST00000247706.3 - 2.0 611 c.372G>A c.(370-372)ccG>ccA p.P124P MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 124.0 hydrolase activity (GO:0016787) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9.0 CGCTGCCCGCCGGATCTGCCA 0.746 Ovarian(156;1368 2543 15275 41187) 0 9.0 10.0 9.0 19 17412054.0 1912.0 3829.0 5741.0 SO:0001819 synonymous_variant AK021805 CCDS12355.1 19p13.12 2010-12-09 ENSG00000127220 ENSG00000127220 79575.0 79575.0 """Abhydrolase domain containing""" 23759.0 protein-coding gene gene with protein product 12477932 Standard NM_024527 NM_024527 Approved FLJ11743, MGC14280, MGC2512 uc002ngb.4 Q96I13 ENST00000247706.3:c.372G>A 19.__UNKNOWN__:g.17412054C>T Q9HAE9 __UNKNOWN__ CCDS12355.1 ABHD8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000462937.1 - ENST00000247706.3 Silent SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF RNF8 9025 broad.mit.edu 37 6 37328329 37328329 + Silent SNP A A G TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr6:37328329A>G ENST00000373479.4 + 2.0 412 c.219A>G c.(217-219)caA>caG p.Q73Q RNF8_ENST00000469731.1_Silent_p.Q73Q|RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000394443.4_Silent_p.Q73Q NM_003958.3|NM_183078.2 NP_003949.1|NP_898901.1 O76064 RNF8_HUMAN ring finger protein 8, E3 ubiquitin protein ligase 73.0 FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}. cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511) chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151) acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13.0 CTGAGGGCCAATGGACAATTA 0.368 A 1.0 0.0005 2184.0 0.0017 1.0 , , 0.0003 0.0004 0.95 LOWCOV,EXOME 0.0008 SNP 0 108.0 100.0 103.0 6 37328329.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB012770 CCDS4833.1, CCDS4834.1 6p21.3 2013-01-09 2012-02-23 ENSG00000112130 ENSG00000112130 9025.0 9025.0 """RING-type (C3HC4) zinc fingers""" 10071.0 protein-coding gene gene with protein product 611685.0 """ring finger protein (C3HC4 type) 8"", ""ring finger protein 8""" 9734811, 9852682 Standard NM_003958 Approved KIAA0646 uc003onq.4 O76064 OTTHUMG00000014620 ENST00000373479.4:c.219A>G 6.__UNKNOWN__:g.37328329A>G A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5 __UNKNOWN__ CCDS4834.1 RNF8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040403.2 + ENST00000373479.4 Silent SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF OR2L2 26246 broad.mit.edu 37 1 248202163 248202163 + Silent SNP G G A TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr1:248202163G>A ENST00000366479.2 + 1.0 690 c.594G>A c.(592-594)gtG>gtA p.V198V OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 198.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42.0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) AGAGCACAGTGTTTTTGAGCA 0.478 0 310.0 267.0 281.0 1 248202163.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X64978 CCDS31103.1 1q44 2012-08-09 ENSG00000203663 ENSG00000203663 26246.0 26246.0 """GPCR / Class A : Olfactory receptors""" 8266.0 protein-coding gene gene with protein product OR2L4P, OR2L12 1370859 Standard NM_001004686 NM_001004686 Approved HTPCRH07, HSHTPCRH07 uc001idw.3 Q8NH16 OTTHUMG00000040214 ENST00000366479.2:c.594G>A 1.__UNKNOWN__:g.248202163G>A Q2M3T5 __UNKNOWN__ CCDS31103.1 OR2L2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000096871.1 + ENST00000366479.2 Silent SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF ATRX 546 broad.mit.edu 37 X 76931778 76931778 + Missense_Mutation SNP G G C TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chrX:76931778G>C ENST00000373344.5 - 10.0 3966 c.3752C>G c.(3751-3753)tCt>tGt p.S1251C ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S1213C NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1251.0 Interaction with DAXX. ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270) 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) 145.0 CACTGATTTAGATAAGGCTTC 0.323 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome Rec yes X Xq21.1 546.0 alpha thalassemia/mental retardation syndrome X-linked yes E 1 Unknown(1) bone(1) 125.0 100.0 108.0 X 76931778.0 2203.0 4296.0 6499.0 SO:0001583 missense U72937 CCDS14434.1, CCDS14435.1 Xq21.1 2014-06-17 2010-06-24 ENSG00000085224 ENSG00000085224 546.0 546.0 886.0 protein-coding gene gene with protein product """RAD54 homolog (S. cerevisiae)""" 300032.0 """alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome""" RAD54, JMS 7874112, 1415255, 8503439, 8630485 Standard NM_000489 NM_000489 Approved XH2, XNP uc004ecp.4 P46100 OTTHUMG00000022686 ENST00000373344.5:c.3752C>G X.__UNKNOWN__:g.76931778G>C ENSP00000362441:p.Ser1251Cys D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3 __UNKNOWN__ CCDS14434.1 . . . . . . . . . . G 12.81 2.048180 0.36181 . . ENSG00000085224 ENST00000373344;ENST00000395603;ENST00000400862 D;D 0.93076 -3.16;-3.16 4.74 3.81 0.43845 . 0.527345 0.17702 N 0.164888 D 0.93621 0.7963 L 0.47716 1.5 0.80722 D 1 D;D;D 0.67145 0.996;0.992;0.985 P;P;P 0.56216 0.794;0.794;0.527 D 0.93606 0.6934 10 0.56958 D 0.05 -6.2841 13.9761 0.64275 0.0:0.0:0.8486:0.1514 . 1183;1213;1251 P46100-6;P46100-4;P46100 .;.;ATRX_HUMAN C 1251;1213;1178 ENSP00000362441:S1251C;ENSP00000378967:S1213C ENSP00000362441:S1251C S - 2 0 ATRX 76818434 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 3.677000 0.54619 2.068000 0.61886 0.506000 0.49869 TCT ATRX-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000058860.2 - ENST00000373344.5 Missense_Mutation SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF COL12A1 1303 broad.mit.edu 37 6 75799877 75799877 + Missense_Mutation SNP G G A TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr6:75799877G>A ENST00000322507.8 - 63.0 9199 c.8890C>T c.(8890-8892)Cgg>Tgg p.R2964W COL12A1_ENST00000416123.2_Missense_Mutation_p.R2888W|COL12A1_ENST00000345356.6_Missense_Mutation_p.R1800W|COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000483888.2_Missense_Mutation_p.R2960W NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2964.0 Collagen-like 4.|Triple-helical region (COL1) with 2 imperfections. cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501) collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982) extracellular matrix structural constituent conferring tensile strength (GO:0030020) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169.0 AAGCCTGGCCGCCCCCCAGGC 0.617 0 91.0 101.0 98.0 6 75799877.0 1838.0 4088.0 5926.0 SO:0001583 missense U73779 CCDS43481.1, CCDS43482.1 6q12-q13 2013-02-11 2003-07-24 ENSG00000111799 ENSG00000111799 1303.0 1303.0 """Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing""" 2188.0 protein-coding gene gene with protein product """collagen type XII proteoglycan""" 120320.0 """collagen, type XII, alpha 1-like""" COL12A1L 9143499 Standard NM_004370 XM_006715334 Approved uc003phs.3 Q99715 OTTHUMG00000015051 ENST00000322507.8:c.8890C>T 6.__UNKNOWN__:g.75799877G>A ENSP00000325146:p.Arg2964Trp O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716 __UNKNOWN__ CCDS43482.1 . . . . . . . . . . G 17.72 3.460074 0.63401 . . ENSG00000111799 ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888 D;D;D;D;D 0.93659 -3.26;-3.26;-3.26;-3.26;-3.26 5.48 4.53 0.55603 . 0.055900 0.64402 D 0.000002 D 0.92358 0.7575 L 0.49455 1.56 0.09310 N 1 D;D 0.76494 0.999;0.997 P;P 0.61397 0.821;0.888 D 0.86504 0.1805 10 0.66056 D 0.02 . 10.995 0.47571 0.0:0.0:0.5854:0.4146 . 1800;2964 Q99715-2;Q99715 .;COCA1_HUMAN W 2964;602;2888;1800;2888;2960 ENSP00000325146:R2964W;ENSP00000399812:R602W;ENSP00000305147:R1800W;ENSP00000412864:R2888W;ENSP00000421216:R2960W ENSP00000325146:R2964W R - 1 2 COL12A1 75856597 0.960000 0.32886 0.867000 0.34043 0.876000 0.50452 2.911000 0.48774 2.567000 0.86603 0.655000 0.94253 CGG COL12A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041249.3 - ENST00000322507.8 Missense_Mutation SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF KCNMA1 3778 broad.mit.edu 37 10 78943220 78943220 + Missense_Mutation SNP G G A TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr10:78943220G>A ENST00000286627.5 - 5.0 1719 c.767C>T c.(766-768)cCc>cTc p.P256L KCNMA1_ENST00000372440.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P256L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P256L|KCNMA1_ENST00000286628.8_Missense_Mutation_p.P256L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P256L NM_001271519.1|NM_002247.3 NP_001258448.1|NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 256.0 blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268) apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249) 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) 68.0 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)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721) AAACACGGGGGGCACCGTGAA 0.458 0 96.0 85.0 89.0 10 78943220.0 2203.0 4300.0 6503.0 SO:0001583 missense U11717 CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1 10q22 2012-07-05 ENSG00000156113 ENSG00000156113 3778.0 3778.0 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated""" 6284.0 protein-coding gene gene with protein product """BK channel alpha subunit""" 600150.0 SLO 7987297, 16382103 Standard NM_002247 NM_002247 Approved KCa1.1, mSLO1 uc001jxn.3 Q12791 OTTHUMG00000018543 ENST00000286627.5:c.767C>T 10.__UNKNOWN__:g.78943220G>A ENSP00000286627:p.Pro256Leu F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6 __UNKNOWN__ CCDS7352.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 29.9|29.9 5.045683|5.045683 0.93685|0.93685 .|. .|. ENSG00000156113|ENSG00000156113 ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403 T;T;T;T;T;T;T;T;T|T 0.51817|0.51071 0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69|0.72 5.92|5.92 5.92|5.92 0.95590|0.95590 Ion transport (1);|. 0.000000|0.000000 0.85682|0.85682 D|D 0.000000|0.000000 T|T 0.40196|0.40196 0.1107|0.1107 N|N 0.03177|0.03177 -0.4|-0.4 0.80722|0.80722 D|D 1|1 D;D;D;D;D;D|. 0.89917|. 1.0;1.0;1.0;1.0;1.0;1.0|. D;D;D;D;D;D|. 0.97110|. 1.0;0.998;0.999;0.998;0.999;0.998|. T|T 0.53215|0.53215 -0.8470|-0.8470 10|8 0.87932|0.87932 D|D 0|0 -14.3615|-14.3615 20.3151|20.3151 0.98650|0.98650 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 256;256;256;256;256;256|. Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7|. .;.;.;KCMA1_HUMAN;.;.|. L|S 256;193;191;230;193;256;256;230;256;256;256;38|207 ENSP00000361517:P256L;ENSP00000361485:P193L;ENSP00000361514:P191L;ENSP00000396608:P230L;ENSP00000361520:P256L;ENSP00000286627:P256L;ENSP00000385552:P256L;ENSP00000346321:P256L;ENSP00000385806:P256L|ENSP00000361480:P207S ENSP00000286627:P256L|ENSP00000361480:P207S P|P -|- 2|1 0|0 KCNMA1|KCNMA1 78613226|78613226 1.000000|1.000000 0.71417|0.71417 0.994000|0.994000 0.49952|0.49952 0.824000|0.824000 0.46624|0.46624 9.756000|9.756000 0.98918|0.98918 2.809000|2.809000 0.96659|0.96659 0.467000|0.467000 0.42956|0.42956 CCC|CCC KCNMA1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000048877.3 - ENST00000286627.5 Missense_Mutation SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF DTX4 23220 broad.mit.edu 37 11 58959666 58959666 + Silent SNP A A G TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr11:58959666A>G ENST00000227451.3 + 6.0 1421 c.1317A>G c.(1315-1317)agA>agG p.R439R DTX4_ENST00000532982.1_Silent_p.R333R|DTX4_ENST00000531902.1_3'UTR NM_015177.1 NP_055992.1 Q9Y2E6 DTX4_HUMAN deltex 4, E3 ubiquitin ligase 439.0 innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479) cytosol (GO:0005829) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20.0 all_epithelial(135;0.125) AGCTGTCCAGATGCGGCCACG 0.592 0 121.0 120.0 120.0 11 58959666.0 2035.0 4168.0 6203.0 SO:0001819 synonymous_variant AB023154 CCDS44612.1 11q12.2 2014-01-28 2014-01-28 ENSG00000110042 ENSG00000110042 23220.0 23220.0 """RING-type (C3HC4) zinc fingers""" 29151.0 protein-coding gene gene with protein product """deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)""" 10231032, 22388039 Standard XM_166213 NM_015177 Approved KIAA0937, RNF155 uc001nns.2 Q9Y2E6 OTTHUMG00000167336 ENST00000227451.3:c.1317A>G 11.__UNKNOWN__:g.58959666A>G Q0VF38 __UNKNOWN__ CCDS44612.1 DTX4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394228.1 + ENST00000227451.3 Silent SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF TEP1 7011 broad.mit.edu 37 14 20837625 20837625 + Missense_Mutation SNP G G A TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr14:20837625G>A ENST00000556935.1 - 51.0 7249 c.7210C>T c.(7210-7212)Cca>Tca p.P2404S TEP1_ENST00000262715.5_Missense_Mutation_p.P2512S Q99973 TEP1_HUMAN telomerase-associated protein 1 2512.0 RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697) ATP binding (GO:0005524)|RNA binding (GO:0003723) 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) 96.0 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) TGGGTTTCTGGAGTGTTTGCT 0.507 0 237.0 213.0 221.0 14 20837625.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS9548.1 14q11.2 2013-01-10 ENSG00000129566 ENSG00000129566 7011.0 7011.0 """WD repeat domain containing""" 11726.0 protein-coding gene gene with protein product """TROVE domain family, member 1""" 601686.0 9403057 Standard NM_007110 NM_007110 Approved TP1, TLP1, VAULT2, p240, TROVE1 uc001vxe.3 Q99973 OTTHUMG00000029515 ENST00000556935.1:c.7210C>T 14.__UNKNOWN__:g.20837625G>A ENSP00000452574:p.Pro2404Ser A0AUV9 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 12.26|12.26 1.884436|1.884436 0.33255|0.33255 .|. .|. ENSG00000129566|ENSG00000129566 ENST00000262715;ENST00000359243;ENST00000556935|ENST00000553984 T;T|. 0.50277|. 0.75;0.8|. 4.15|4.15 3.25|3.25 0.37280|0.37280 .|. 1.175540|. 0.05955|. N|. 0.639553|. T|T 0.35307|0.35307 0.0927|0.0927 L|L 0.36672|0.36672 1.1|1.1 0.20703|0.20703 N|N 0.999869|0.999869 B;B;B|. 0.30851|. 0.297;0.297;0.197|. B;B;B|. 0.28784|. 0.094;0.094;0.043|. T|T 0.18808|0.18808 -1.0325|-1.0325 10|5 0.15499|. T|. 0.54|. -4.4877|-4.4877 7.8705|7.8705 0.29563|0.29563 0.1118:0.0:0.8882:0.0|0.1118:0.0:0.8882:0.0 .|. 2404;1855;2512|. G3V5X7;G3V2A4;Q99973|. .;.;TEP1_HUMAN|. S|F 2512;2504;2404|168 ENSP00000262715:P2512S;ENSP00000452574:P2404S|. ENSP00000262715:P2512S|. P|S -|- 1|2 0|0 TEP1|TEP1 19907465|19907465 0.108000|0.108000 0.22018|0.22018 0.013000|0.013000 0.15412|0.15412 0.024000|0.024000 0.10985|0.10985 1.050000|1.050000 0.30404|0.30404 1.321000|1.321000 0.45227|0.45227 0.591000|0.591000 0.81541|0.81541 CCA|TCC TEP1-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000410689.1 - ENST00000556935.1 Missense_Mutation SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF ADAM11 4185 broad.mit.edu 37 17 42854139 42854139 + Silent SNP C C T TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr17:42854139C>T ENST00000200557.6 + 19.0 1762 c.1593C>T c.(1591-1593)gaC>gaT p.D531D ADAM11_ENST00000535346.1_Silent_p.D331D NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 531.0 Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}. integrin-mediated signaling pathway (GO:0007229) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33.0 Prostate(33;0.0959) ACAAGCTGGACGGTTACTACT 0.607 0 117.0 102.0 107.0 17 42854139.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D17390 CCDS11486.1 17q21.3 2014-08-12 2005-08-18 ENSG00000073670 4185.0 4185.0 """ADAM metallopeptidase domain containing""" 189.0 protein-coding gene gene with protein product """metalloproteinase-like, disintegrin-like, cysteine-rich protein""" 155120.0 """a disintegrin and metalloproteinase domain 11""" MDC 8252040 Standard NM_002390 XM_005257373 Approved uc002ihh.3 O75078 OTTHUMG00000179038 ENST00000200557.6:c.1593C>T 17.__UNKNOWN__:g.42854139C>T Q14808|Q14809|Q14810 __UNKNOWN__ CCDS11486.1 ADAM11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000444531.1 + ENST00000200557.6 Silent SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF PQBP1 10084 broad.mit.edu 37 X 48759214 48759214 + Missense_Mutation SNP C C A TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chrX:48759214C>A ENST00000376563.1 + 4.0 387 c.187C>A c.(187-189)Cct>Act p.P63T PQBP1_ENST00000247140.4_Missense_Mutation_p.P63T|PQBP1_ENST00000447146.2_Missense_Mutation_p.P63T|PQBP1_ENST00000396763.1_Missense_Mutation_p.P63T|PQBP1_ENST00000376566.4_Missense_Mutation_p.P63T|PQBP1_ENST00000218224.4_Missense_Mutation_p.P63T|PQBP1_ENST00000473764.1_3'UTR NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1 NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1 O60828 PQBP1_HUMAN polyglutamine binding protein 1 63.0 WW. {ECO:0000255|PROSITE- ProRule:PRU00224}. alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634) DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713) breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2) 11.0 CAGCGGGCTCCCTTACTACTG 0.547 0 79.0 67.0 71.0 X 48759214.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ005893 CCDS14309.1, CCDS55412.1 Xp11.23 2014-01-31 ENSG00000102103 ENSG00000102103 10084.0 10084.0 9330.0 protein-coding gene gene with protein product 300463.0 """Sutherland-Haan X-linked mental retardation syndrome"", ""mental retardation, X-linked 55"", ""mental retardation, X-linked 2 (non-dysmorphic)""" RENS1, MRXS8, SHS, MRX55, MRX2 9875212, 15024694, 14634649 Standard NM_001032381.1 NM_144495 Approved uc004dlg.3 O60828 OTTHUMG00000024128 ENST00000376563.1:c.187C>A X.__UNKNOWN__:g.48759214C>A ENSP00000365747:p.Pro63Thr Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4 __UNKNOWN__ CCDS14309.1 . . . . . . . . . . C 13.57 2.277501 0.40294 . . ENSG00000102103 ENST00000376563;ENST00000376566;ENST00000447146;ENST00000247140;ENST00000218224;ENST00000396763;ENST00000443648 D;D;D;D;D;D;D 0.82433 -1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61 5.24 5.24 0.73138 WW/Rsp5/WWP (5); 0.000000 0.85682 D 0.000000 D 0.88280 0.6394 L 0.60455 1.87 0.80722 D 1 D;D;D;D;D;B;D;D 0.89917 0.997;1.0;0.999;1.0;1.0;0.42;1.0;1.0 D;D;D;D;D;B;D;D 0.91635 0.991;0.999;0.961;0.994;0.998;0.099;0.999;0.999 D 0.85483 0.1180 10 0.22706 T 0.39 -15.4909 14.5549 0.68094 0.0:1.0:0.0:0.0 . 63;63;63;63;63;63;63;63 O60828-5;O60828-6;O60828-2;C9JQA1;O60828-7;O60828-4;O60828-3;O60828 .;.;.;.;.;.;.;PQBP1_HUMAN T 63 ENSP00000365747:P63T;ENSP00000365750:P63T;ENSP00000391759:P63T;ENSP00000247140:P63T;ENSP00000218224:P63T;ENSP00000379985:P63T;ENSP00000414861:P63T ENSP00000218224:P63T P + 1 0 PQBP1 48644158 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 6.541000 0.73865 2.413000 0.81919 0.600000 0.82982 CCT PQBP1-203 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060777.1 + ENST00000376563.1 Missense_Mutation SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF HUWE1 10075 broad.mit.edu 37 X 53570843 53570843 + Missense_Mutation SNP G G A TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chrX:53570843G>A ENST00000342160.3 - 72.0 11795 c.11338C>T c.(11338-11340)Cgt>Tgt p.R3780C HUWE1_ENST00000262854.6_Missense_Mutation_p.R3780C|HUWE1_ENST00000474288.1_5'UTR Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3780.0 base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634) DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842) p.R3670C(1)|p.R3780C(1) 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) 153.0 TGACCCTCACGTACCATTTGT 0.557 2 Substitution - Missense(2) endometrium(2) 88.0 53.0 65.0 X 53570843.0 2203.0 4300.0 6503.0 SO:0001583 missense AB071605 CCDS35301.1 Xp11.22 2014-06-09 2012-02-23 ENSG00000086758 ENSG00000086758 10075.0 10075.0 30892.0 protein-coding gene gene with protein product 300697.0 """HECT, UBA and WWE domain containing 1""" 9205841, 10998601 Standard XM_497119 NM_031407 Approved Ib772, KIAA0312, UREB1 uc004dsp.4 Q7Z6Z7 OTTHUMG00000021617 ENST00000342160.3:c.11338C>T X.__UNKNOWN__:g.53570843G>A ENSP00000340648:p.Arg3780Cys O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9 __UNKNOWN__ CCDS35301.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. g|g 11.12|11.12 1.544374|1.544374 0.27563|0.27563 .|. .|. ENSG00000086758|ENSG00000086758 ENST00000342160;ENST00000262854|ENST00000427052 T;T|. 0.38240|. 1.15;1.15|. 4.93|4.93 4.93|4.93 0.64822|0.64822 .|. 0.160068|. 0.37761|. N|. 0.001951|. T|T 0.61426|0.61426 0.2346|0.2346 L|L 0.44542|0.44542 1.39|1.39 0.80722|0.80722 D|D 1|1 D;D|. 0.89917|. 0.975;1.0|. B;D|. 0.76575|. 0.165;0.988|. T|T 0.59010|0.59010 -0.7534|-0.7534 10|5 0.56958|. D|. 0.05|. .|. 16.1273|16.1273 0.81404|0.81404 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 3780;3764|. Q7Z6Z7;Q7Z6Z7-2|. HUWE1_HUMAN;.|. C|M 3780|2813 ENSP00000340648:R3780C;ENSP00000262854:R3780C|. ENSP00000262854:R3780C|. R|T -|- 1|2 0|0 HUWE1|HUWE1 53587568|53587568 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 6.356000|6.356000 0.73046|0.73046 2.057000|2.057000 0.61298|0.61298 0.534000|0.534000 0.68092|0.68092 CGT|ACG HUWE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056766.1 - ENST00000342160.3 Missense_Mutation SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF CARM1 10498 broad.mit.edu 37 19 11022906 11022906 + Missense_Mutation SNP C C T TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr19:11022906C>T ENST00000327064.4 + 5.0 795 c.605C>T c.(604-606)gCc>gTc p.A202V CARM1_ENST00000344150.4_Missense_Mutation_p.A202V NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 202.0 SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}. cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212) p.A202V(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13.0 TCGTTTTTTGCCGCCCAAGCT 0.622 2 Substitution - Missense(2) lung(2) 319.0 260.0 280.0 19 11022906.0 2203.0 4300.0 6503.0 SO:0001583 missense AF055027 CCDS12250.1 19p13.2 2010-10-11 ENSG00000142453 ENSG00000142453 10498.0 10498.0 """Protein arginine methyltransferases""" 23393.0 protein-coding gene gene with protein product 603934.0 10381882, 11724789 Standard XM_032719 NM_199141 Approved PRMT4 uc002mpz.3 Q86X55 ENST00000327064.4:c.605C>T 19.__UNKNOWN__:g.11022906C>T ENSP00000325690:p.Ala202Val A6NN38 __UNKNOWN__ CCDS12250.1 . . . . . . . . . . C 31 5.061915 0.93846 . . ENSG00000142453 ENST00000327064;ENST00000344150 T;T 0.28666 1.6;1.6 5.67 4.63 0.57726 . 0.000000 0.85682 D 0.000000 T 0.61073 0.2318 H 0.96142 3.775 0.80722 D 1 D 0.57571 0.98 P 0.53809 0.735 T 0.76482 -0.2943 10 0.87932 D 0 -2.6238 14.9481 0.71047 0.1444:0.8556:0.0:0.0 . 202 Q86X55 CARM1_HUMAN V 202 ENSP00000325690:A202V;ENSP00000340934:A202V ENSP00000325690:A202V A + 2 0 CARM1 10883906 1.000000 0.71417 0.005000 0.12908 0.991000 0.79684 7.335000 0.79234 1.386000 0.46466 0.655000 0.94253 GCC CARM1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000452625.1 + ENST00000327064.4 Missense_Mutation SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF AADACL4 343066 broad.mit.edu 37 1 12726517 12726517 + Missense_Mutation SNP T T A TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr1:12726517T>A ENST00000376221.1 + 4.0 995 c.995T>A c.(994-996)gTc>gAc p.V332D NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 332.0 integral component of membrane (GO:0016021) carboxylic ester hydrolase activity (GO:0052689) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17.0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) GATGATGAGGTCATCGCTCAG 0.507 0 106.0 104.0 105.0 1 12726517.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS30590.1 1p36.21 2010-12-14 ENSG00000204518 ENSG00000204518 343066.0 343066.0 32038.0 protein-coding gene gene with protein product Standard NM_001013630 XM_006710608 Approved OTTHUMG00000001889 uc001auf.3 Q5VUY2 OTTHUMG00000001889 ENST00000376221.1:c.995T>A 1.__UNKNOWN__:g.12726517T>A ENSP00000365395:p.Val332Asp __UNKNOWN__ CCDS30590.1 . . . . . . . . . . T 14.91 2.675171 0.47781 . . ENSG00000204518 ENST00000376221 T 0.61510 0.1 4.38 -7.75 0.01236 Alpha/beta hydrolase fold-3 (1); 0.949461 0.08793 N 0.892927 T 0.53077 0.1774 N 0.13235 0.315 0.19300 N 0.99998 D 0.57899 0.981 P 0.62885 0.908 T 0.55711 -0.8098 10 0.17832 T 0.49 -4.2289 18.4468 0.90686 0.0:0.1024:0.0:0.8976 . 332 Q5VUY2 ADCL4_HUMAN D 332 ENSP00000365395:V332D ENSP00000365395:V332D V + 2 0 AADACL4 12649104 0.000000 0.05858 0.000000 0.03702 0.005000 0.04900 -0.129000 0.10515 -1.774000 0.01288 -0.408000 0.06270 GTC AADACL4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000005328.1 + ENST00000376221.1 Missense_Mutation SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF ARNT2 9915 broad.mit.edu 37 15 80767549 80767549 + Missense_Mutation SNP G G A TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr15:80767549G>A ENST00000531595.3 + 0.0 388 ARNT2_ENST00000533983.1_Missense_Mutation_p.E192K|ARNT2_ENST00000303329.4_Missense_Mutation_p.E203K|ARNT2_ENST00000527771.1_Missense_Mutation_p.E192K Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871) NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35.0 BRCA - Breast invasive adenocarcinoma(143;0.134) GTGCACCTCAGAAAACTCAAT 0.507 0 79.0 79.0 79.0 15 80767549.0 2203.0 4300.0 6503.0 SO:0001624 3_prime_UTR_variant AB002305 CCDS32307.1 15q25.1 2013-05-21 ENSG00000172379 ENSG00000172379 9915.0 9915.0 """Basic helix-loop-helix proteins""" 16876.0 protein-coding gene gene with protein product 606036.0 11247670 Standard NM_014862 Approved KIAA0307, bHLHe1 uc002bfr.3 Q9HBZ2 OTTHUMG00000165478 ENST00000531595.3:c.*385G>A 15.__UNKNOWN__:g.80767549G>A B4DIS7|O15024|Q8IYC2 __UNKNOWN__ . . . . . . . . . . G 24.4 4.532256 0.85812 . . ENSG00000172379 ENST00000360062;ENST00000303329;ENST00000540859 T 0.06933 3.24 4.37 4.37 0.52481 PAS (2);PAS fold (1); 0.232862 0.43747 D 0.000521 T 0.30103 0.0754 M 0.74647 2.275 0.80722 D 1 D;D 0.89917 1.0;0.993 D;D 0.87578 0.998;0.973 T 0.08576 -1.0715 10 0.87932 D 0 . 17.1224 0.86705 0.0:0.0:1.0:0.0 . 203;203 Q9HBZ2;Q86TN1 ARNT2_HUMAN;. K 192;203;203 ENSP00000307479:E203K ENSP00000307479:E203K E + 1 0 ARNT2 78554604 1.000000 0.71417 0.933000 0.37362 0.722000 0.41435 8.792000 0.91856 2.253000 0.74438 0.448000 0.29417 GAA ARNT2-008 PUTATIVE basic|exp_conf processed_transcript protein_coding OTTHUMT00000384438.2 + ENST00000531595.3 3'UTR SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF Unknown 0 bcgsc.ca 37 11 1824158 1824158 + RNA SNP G G C TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr11:1824158G>C AC068580.7 (24540 upstream) : SYT8 (24550 downstream) GGCCAGGCTCGTCATACGCCT 0.547 0 SO:0001628 intergenic_variant 11.__UNKNOWN__:g.1824158G>C __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF NCOA3 8202 bcgsc.ca 37 20 46281698 46281698 + Missense_Mutation SNP C C T TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr20:46281698C>T ENST00000371998.3 + 22.0 4336 c.4145C>T c.(4144-4146)gCc>gTc p.A1382V NCOA3_ENST00000371997.3_Missense_Mutation_p.A1373V|NCOA3_ENST00000372004.3_Missense_Mutation_p.A1378V|NCOA3_ENST00000341724.6_Missense_Mutation_p.A1308V Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1382.0 androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068) cytoplasm (GO:0005737)|nucleus (GO:0005634) androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52.0 CAGCAGTTTGCCCACCAGGGG 0.478 0 136.0 129.0 131.0 20 46281698.0 2203.0 4300.0 6503.0 SO:0001583 missense AF012108 CCDS13406.1, CCDS13407.1, CCDS54472.1 20q12 2011-07-01 ENSG00000124151 ENSG00000124151 8202.0 8202.0 """Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins""" 7670.0 protein-coding gene gene with protein product """receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1""" 601937 9252329, 9346901 Standard NM_006534 NM_181659 Approved RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3 uc002xtk.3 Q9Y6Q9 OTTHUMG00000033061 ENST00000371998.3:c.4145C>T 20.__UNKNOWN__:g.46281698C>T ENSP00000361066:p.Ala1382Val A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7 __UNKNOWN__ CCDS13407.1 . . . . . . . . . . C 16.41 3.115005 0.56505 . . ENSG00000124151 ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997 T;T;T;T 0.02323 4.38;4.56;4.56;4.34 5.87 4.87 0.63330 . 0.325655 0.29438 N 0.012150 T 0.03915 0.0110 L 0.36672 1.1 0.31805 N 0.627943 P;B;B;P;P 0.39940 0.57;0.354;0.354;0.696;0.57 B;B;B;B;B 0.40602 0.334;0.179;0.179;0.333;0.334 T 0.11470 -1.0586 10 0.46703 T 0.11 -14.3917 13.8499 0.63489 0.0:0.6804:0.3196:0.0 . 1382;1385;1377;1378;1382 A8K0W8;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9 .;.;.;.;NCOA3_HUMAN V 1378;1308;1378;1382;1373 ENSP00000342123:A1308V;ENSP00000361073:A1378V;ENSP00000361066:A1382V;ENSP00000361065:A1373V ENSP00000345671:A1378V A + 2 0 NCOA3 45715105 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 3.368000 0.52357 2.785000 0.95823 0.655000 0.94253 GCC NCOA3-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000080405.1 + ENST00000371998.3 Missense_Mutation SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF SUPT16H 11198 bcgsc.ca 37 14 21831282 21831288 + Frame_Shift_Del DEL TCGCTTC TCGCTTC - TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 TCGCTTC - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr14:21831282_21831288delTCGCTTC ENST00000216297.2 - 13.0 1754_1760 c.1416_1422delGAAGCGA c.(1414-1422)gagaagcgafs p.EKR472fs NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 472.0 DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27.0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) GATGTGCTCTTCGCTTCTCTTCTGCAG 0.391 0 SO:0001589 frameshift_variant AF152961 CCDS9569.1 14q11.1 2008-08-13 2001-11-28 ENSG00000092201 ENSG00000092201 11198.0 11198.0 11465.0 protein-coding gene gene with protein product """facilitates chromatin remodeling 140 kDa subunit""" 605012 """suppressor of Ty (S.cerevisiae) 16 homolog""" 9489704, 11239457 Standard NM_007192 Approved FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68 uc001wao.2 Q9Y5B9 OTTHUMG00000029685 ENST00000216297.2:c.1416_1422delGAAGCGA 14.__UNKNOWN__:g.21831282_21831288delTCGCTTC ENSP00000216297:p.Glu472fs Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0 __UNKNOWN__ CCDS9569.1 SUPT16H-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000074025.2 - ENST00000216297.2 Frame_Shift_Del DEL PCPG-TCGA-QR-A70A-Normal-SM-5EQHF PRKDC 5591 ucsc.edu 37 8 48686831 48686831 + Missense_Mutation SNP C C T TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr8:48686831C>T ENST00000523565.1 - 0.0 12345 PRKDC_ENST00000314191.2_Missense_Mutation_p.G4096E|PRKDC_ENST00000338368.3_Missense_Mutation_p.G4065E P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723) cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134) 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) 147.0 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) Caffeine(DB00201) TTCTGAAAGCCCACTCTCTGG 0.547 Non-homologous end-joining Esophageal Squamous(79;1091 1253 12329 31680 40677) 0 114.0 107.0 109.0 8 48686831.0 1955.0 4139.0 6094.0 SO:0001623 5_prime_UTR_variant CCDS75734.1, CCDS75735.1 8q11 2014-09-17 ENSG00000253729 5591.0 5591.0 2.7.11.1 9413.0 protein-coding gene gene with protein product 600899 HYRC, HYRC1 7638222 Standard NM_001081640 NM_001081640 Approved DNPK1, p350, DNAPK, XRCC7, DNA-PKcs uc003xqi.3 P78527 ENST00000523565.1:c.-1163G>A 8.__UNKNOWN__:g.48686831C>T P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3 __UNKNOWN__ . . . . . . . . . . C 12.70 2.017350 0.35606 . . ENSG00000253729 ENST00000314191;ENST00000338368 T;T 0.75938 -0.98;-0.98 5.62 4.75 0.60458 PIK-related kinase, FATC (2);Phosphatidylinositol 3-/4-kinase, catalytic (1); 0.240294 0.42294 D 0.000737 T 0.71221 0.3314 L 0.49455 1.56 0.58432 D 0.999994 B;B 0.23490 0.086;0.086 B;B 0.34093 0.124;0.175 T 0.65479 -0.6158 10 0.21014 T 0.42 . 14.5714 0.68213 0.0:0.9298:0.0:0.0702 . 4065;4097 E7EUY0;P78527 .;PRKDC_HUMAN E 4096;4065 ENSP00000313420:G4096E;ENSP00000345182:G4065E ENSP00000313420:G4096E G - 2 0 PRKDC 48849384 0.995000 0.38212 0.144000 0.22314 0.224000 0.24922 3.592000 0.53993 1.396000 0.46663 0.650000 0.86243 GGG PRKDC-002 KNOWN basic processed_transcript protein_coding OTTHUMT00000377896.1 - ENST00000523565.1 5'UTR SNP PCPG-TCGA-QR-A70A-Normal-SM-5EQHF CDK5RAP3 80279 broad.mit.edu 37 17 46053346 46053346 + Silent SNP C C T TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr17:46053346C>T ENST00000338399.4 + 8.0 871 c.765C>T c.(763-765)ctC>ctT p.L255L CDK5RAP3_ENST00000536708.2_Silent_p.L280L NM_176096.1 NP_788276.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 255.0 brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664) membrane (GO:0016020) protein kinase binding (GO:0019901) NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18.0 GACCCCACCTCGAGGAGCTTC 0.602 0 56.0 57.0 57.0 17 46053346.0 2084.0 4201.0 6285.0 SO:0001819 synonymous_variant AF110322 CCDS42356.1, CCDS62232.1 17q21.2 2008-07-18 ENSG00000108465 80279.0 80279.0 18673.0 protein-coding gene gene with protein product """ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein""" 608202.0 10721722 Standard NM_176096 NM_176096 Approved MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP uc010wlc.3 Q96JB5 ENST00000338399.4:c.765C>T 17.__UNKNOWN__:g.46053346C>T B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9 __UNKNOWN__ CCDS42356.1 CDK5RAP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000442913.1 + ENST00000338399.4 Silent SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 SDCCAG3 10807 broad.mit.edu 37 9 139302344 139302344 + Silent SNP T T C TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr9:139302344T>C ENST00000357365.3 - 4.0 465 c.336A>G c.(334-336)agA>agG p.R112R SDCCAG3_ENST00000371725.3_Silent_p.R39R|SDCCAG3_ENST00000298537.7_Silent_p.R89R NM_001039707.1 NP_001034796.1 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 112.0 cytoplasm (GO:0005737) NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16.0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) TCAGAAACTCTCTAAAAGAGA 0.453 0 103.0 106.0 105.0 9 139302344.0 1869.0 4102.0 5971.0 SO:0001819 synonymous_variant AF039688 CCDS6999.2, CCDS43903.1, CCDS43904.1 9q34.3 2010-10-27 ENSG00000165689 ENSG00000165689 10807.0 10807.0 10667.0 protein-coding gene gene with protein product 9610721 Standard NM_006643 XM_005266050 Approved NY-CO-3 uc004chi.3 Q96C92 OTTHUMG00000020928 ENST00000357365.3:c.336A>G 9.__UNKNOWN__:g.139302344T>C A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5 __UNKNOWN__ CCDS43904.1 SDCCAG3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000055060.2 - ENST00000357365.3 Silent SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 ZNF574 64763 broad.mit.edu 37 19 42584442 42584442 + Nonsense_Mutation SNP C C T TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr19:42584442C>T ENST00000600245.1 + 2.0 2339 c.1684C>T c.(1684-1686)Caa>Taa p.Q562* ZNF574_ENST00000222339.7_Nonsense_Mutation_p.Q652*|ZNF574_ENST00000359044.4_Nonsense_Mutation_p.Q562* Q6ZN55 ZN574_HUMAN zinc finger protein 574 562.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20.0 Prostate(69;0.059) GGCTTTCACGCAAAGCTCCAC 0.632 0 86.0 85.0 86.0 19 42584442.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AK074788 CCDS12596.1 19q13.2 2013-09-20 ENSG00000105732 ENSG00000105732 64763.0 64763.0 """Zinc fingers, C2H2-type""" 26166.0 protein-coding gene gene with protein product 12477932 Standard NM_022752 NM_022752 Approved FLJ22059 uc002osm.4 Q6ZN55 OTTHUMG00000182751 ENST00000600245.1:c.1684C>T 19.__UNKNOWN__:g.42584442C>T ENSP00000469029:p.Gln562* Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0 __UNKNOWN__ CCDS12596.1 . . . . . . . . . . C 15.57 2.872875 0.51695 . . ENSG00000105732 ENST00000222339;ENST00000359044;ENST00000535775 . . . 5.18 5.18 0.71444 . 0.156455 0.43110 D 0.000616 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.25751 T 0.34 -15.3739 17.4592 0.87615 0.0:1.0:0.0:0.0 . . . . X 652;562;169 . ENSP00000222339:Q652X Q + 1 0 ZNF574 47276282 0.185000 0.23213 0.129000 0.21949 0.024000 0.10985 2.144000 0.42197 2.418000 0.82041 0.650000 0.86243 CAA ZNF574-002 KNOWN upstream_uORF|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463458.1 + ENST00000600245.1 Nonsense_Mutation SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 CBFA2T2 9139 broad.mit.edu 37 20 32232172 32232172 + Missense_Mutation SNP G G A TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr20:32232172G>A ENST00000342704.6 + 11.0 1689 c.1508G>A c.(1507-1509)cGc>cAc p.R503H CBFA2T2_ENST00000397800.1_Missense_Mutation_p.R483H|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.R483H|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.R512H|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.R522H|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.R60H|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.R512H NM_001032999.2 NP_001028171.1 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 512.0 epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) nucleus (GO:0005634) metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20.0 AACTGTGGCCGCAAAGCCAGC 0.572 Esophageal Squamous(174;142 1955 14837 21276 28041) 0 71.0 67.0 68.0 20 32232172.0 2203.0 4300.0 6503.0 SO:0001583 missense AF052210 CCDS13221.1, CCDS46590.1 20q11 2007-01-29 ENSG00000078699 ENSG00000078699 9139.0 9139.0 """Zinc fingers, MYND-type""" 1536.0 protein-coding gene gene with protein product 603672.0 9790752 Standard NM_001032999 XM_006723886 Approved MTGR1, ZMYND3 uc002wze.1 O43439 OTTHUMG00000032261 ENST00000342704.6:c.1508G>A 20.__UNKNOWN__:g.32232172G>A ENSP00000345810:p.Arg503His B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24 __UNKNOWN__ CCDS46590.1 . . . . . . . . . . G 36 5.638831 0.96693 . . ENSG00000078699 ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606;ENST00000543126 T;T;T;T;T 0.55234 0.53;0.54;0.53;0.55;1.13 5.79 5.79 0.91817 Zinc finger, MYND-type (3); 0.000000 0.85682 D 0.000000 T 0.75466 0.3853 M 0.78801 2.425 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.87578 0.998;0.996 T 0.77197 -0.2676 10 0.87932 D 0 -3.8816 20.0222 0.97508 0.0:0.0:1.0:0.0 . 512;503 O43439;F8W6D7 MTG8R_HUMAN;. H 286;512;503;512;483;522;60 ENSP00000364428:R512H;ENSP00000345810:R503H;ENSP00000262653:R512H;ENSP00000380902:R483H;ENSP00000352622:R522H ENSP00000345810:R503H R + 2 0 CBFA2T2 31695833 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.845000 0.99498 2.726000 0.93360 0.655000 0.94253 CGC CBFA2T2-009 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000471953.1 + ENST00000342704.6 Missense_Mutation SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 OR2W3 343171 broad.mit.edu 37 1 248059477 248059477 + Missense_Mutation SNP G G A TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr1:248059477G>A ENST00000360358.3 + 1.0 589 c.589G>A c.(589-591)Ggc>Agc p.G197S OR2W3_ENST00000537741.1_Missense_Mutation_p.G197S NM_001001957.2 NP_001001957.2 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 197.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49.0 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGCCATCGAAGGCACCGTCTT 0.597 0 155.0 135.0 142.0 1 248059477.0 2203.0 4300.0 6503.0 SO:0001583 missense N75737 CCDS31099.1 1q44 2012-08-09 2004-03-10 ENSG00000238243 ENSG00000238243 343171.0 343171.0 """GPCR / Class A : Olfactory receptors""" 15021.0 protein-coding gene gene with protein product OR2W8P, OR2W3P 14983052 Standard NM_001001957 NM_001001957 Approved OST718 uc010pzb.2 Q7Z3T1 OTTHUMG00000040204 ENST00000360358.3:c.589G>A 1.__UNKNOWN__:g.248059477G>A ENSP00000353516:p.Gly197Ser Q6IF06|Q8NG86 __UNKNOWN__ CCDS31099.1 . . . . . . . . . . G 3.184 -0.167196 0.06461 . . ENSG00000238243 ENST00000537741;ENST00000360358 T;T 0.00069 8.77;8.77 5.29 3.4 0.38934 GPCR, rhodopsin-like superfamily (1); 0.475764 0.20138 N 0.098430 T 0.00073 0.0002 N 0.02539 -0.55 0.09310 N 1 B 0.16166 0.016 B 0.24006 0.05 T 0.06954 -1.0798 10 0.31617 T 0.26 . 5.3935 0.16257 0.2226:0.0:0.632:0.1454 . 197 Q7Z3T1 OR2W3_HUMAN S 197 ENSP00000445853:G197S;ENSP00000353516:G197S ENSP00000353516:G197S G + 1 0 OR2W3 246126100 0.002000 0.14202 0.160000 0.22671 0.021000 0.10359 0.510000 0.22723 1.477000 0.48234 0.609000 0.83330 GGC OR2W3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000096861.1 + ENST00000360358.3 Missense_Mutation SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 ENAM 10117 broad.mit.edu 37 4 71500137 71500137 + Nonsense_Mutation SNP C C G TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr4:71500137C>G ENST00000396073.3 + 6.0 604 c.323C>G c.(322-324)tCa>tGa p.S108* NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 108.0 amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214) proteinaceous extracellular matrix (GO:0005578) haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6.0 Lung(101;0.235) CGGAAATCCTCAGCACCCAAA 0.522 0 123.0 124.0 124.0 4 71500137.0 2203.0 4296.0 6499.0 SO:0001587 stop_gained AF125373 CCDS3544.2 4q13.3 2008-02-05 ENSG00000132464 ENSG00000132464 10117.0 10117.0 3344.0 protein-coding gene gene with protein product 606585.0 """amelogenesis imperfecta 2, hypocalcification (autosomal dominant)""" AIH2 11978766 Standard NM_031889 NM_031889 Approved uc011caw.1 Q9NRM1 OTTHUMG00000129914 ENST00000396073.3:c.323C>G 4.__UNKNOWN__:g.71500137C>G ENSP00000379383:p.Ser108* Q17RI5|Q9H3D1 __UNKNOWN__ CCDS3544.2 . . . . . . . . . . C 19.55 3.847896 0.71603 . . ENSG00000132464 ENST00000396073 . . . 4.84 2.97 0.34412 . 0.958181 0.08564 N 0.927145 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.54805 T 0.06 -0.7878 5.5419 0.17043 0.1954:0.7027:0.0:0.1019 . . . . X 108 . ENSP00000379383:S108X S + 2 0 ENAM 71719001 0.005000 0.15991 0.250000 0.24296 0.058000 0.15608 1.455000 0.35190 1.184000 0.42957 -0.384000 0.06662 TCA ENAM-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252166.3 + ENST00000396073.3 Nonsense_Mutation SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 BEST3 144453 broad.mit.edu 37 12 70048984 70048984 + Silent SNP G G A TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr12:70048984G>A ENST00000330891.5 - 10.0 1936 c.1710C>T c.(1708-1710)agC>agT p.S570S BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Silent_p.S464S|BEST3_ENST00000488961.1_Silent_p.S357S NM_001282613.1|NM_032735.2 NP_001269542.1|NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 570.0 negative regulation of ion transport (GO:0043271) chloride channel complex (GO:0034707)|plasma membrane (GO:0005886) chloride channel activity (GO:0005254) cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12.0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TTTCCTCAGCGCTGGCTGAAA 0.557 0 G , 1,3703 0,1,1851 42.0 42.0 42.0 1710,1071 -7.7 0.0 12 42.0 0,8188 0,0,4094 no coding-synonymous,coding-synonymous BEST3 NM_032735.2,NM_152439.2 , 0,1,5945 AA,AG,GG 0.0,0.027,0.0084 , 570/669,357/456 70048984.0 1,11891 1852.0 4094.0 5946.0 SO:0001819 synonymous_variant AF440758 CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1 12q14.2-q15 2012-09-26 2006-10-18 2006-10-18 ENSG00000127325 ENSG00000127325 144453.0 144453.0 """Ion channels / Chloride channels : Calcium activated : Bestrophins""" 17105.0 protein-coding gene gene with protein product 607337.0 """vitelliform macular dystrophy 2-like 3""" VMD2L3 12032738 Standard NM_152439 NM_032735 Approved MGC40411, MGC13168 uc001svg.3 Q8N1M1 OTTHUMG00000149919 ENST00000330891.5:c.1710C>T 12.__UNKNOWN__:g.70048984G>A B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80 __UNKNOWN__ CCDS8992.2 BEST3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313908.2 - ENST00000330891.5 Silent SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 MYO1C 4641 broad.mit.edu 37 17 1381197 1381197 + Silent SNP G G A TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr17:1381197G>A ENST00000575158.1 - 13.0 1541 c.1365C>T c.(1363-1365)atC>atT p.I455I MYO1C_ENST00000359786.5_Silent_p.I490I|MYO1C_ENST00000545534.2_Silent_p.I466I|MYO1C_ENST00000361007.2_Silent_p.I455I|MYO1C_ENST00000438665.2_Silent_p.I471I Q12965 MYO1E_HUMAN myosin IC 459.0 Myosin motor. actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570) actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459) actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17.0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AAATCGAGATGATGCCCTTAA 0.567 0 147.0 138.0 141.0 17 1381197.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X98507 CCDS11003.1, CCDS42226.1, CCDS45562.1 17p13.3 2011-09-27 ENSG00000197879 ENSG00000197879 4641.0 4641.0 """Myosins / Myosin superfamily : Class I""" 7597.0 protein-coding gene gene with protein product 606538.0 9119401 Standard NM_001080779 Approved myr2 uc002fsp.3 O00159 OTTHUMG00000090323 ENST00000575158.1:c.1365C>T 17.__UNKNOWN__:g.1381197G>A Q14778 __UNKNOWN__ CCDS11003.1 MYO1C-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000438694.2 - ENST00000575158.1 Silent SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 OGT 8473 broad.mit.edu 37 X 70756122 70756122 + Silent SNP C C T TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chrX:70756122C>T ENST00000373719.3 + 2.0 349 c.132C>T c.(130-132)tgC>tgT p.C44C OGT_ENST00000373701.3_Silent_p.C34C|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 44.0 apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363) 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) 43.0 Renal(35;0.156) AGAGACACTGCATGCAGCTCT 0.478 0 121.0 94.0 103.0 X 70756122.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U77413 CCDS14414.1, CCDS35502.1 Xq13 2013-07-24 2012-05-04 ENSG00000147162 ENSG00000147162 8473.0 8473.0 2.4.1.255 """Tetratricopeptide (TTC) repeat domain containing""" 8127.0 protein-coding gene gene with protein product """UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase""" 300255.0 """O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)""" 9083068 Standard NM_003605, NM_181672 NM_181672 Approved O-GLCNAC, HRNT1, MGC22921, FLJ23071 uc004eaa.2 O15294 OTTHUMG00000033316 ENST00000373719.3:c.132C>T X.__UNKNOWN__:g.70756122C>T Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57 __UNKNOWN__ CCDS14414.1 OGT-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000081829.3 + ENST00000373719.3 Silent SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 KLHL7 55975 broad.mit.edu 37 7 23213904 23213904 + Missense_Mutation SNP C C A TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr7:23213904C>A ENST00000339077.5 + 11.0 1991 c.1748C>A c.(1747-1749)aCc>aAc p.T583N AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000539124.1_Missense_Mutation_p.T507N|KLHL7_ENST00000545443.1_Missense_Mutation_p.T561N|KLHL7_ENST00000542558.1_Missense_Mutation_p.T358N|KLHL7_ENST00000322231.7_Missense_Mutation_p.T561N|KLHL7_ENST00000409689.1_Missense_Mutation_p.T535N NM_001031710.2 NP_001026880.2 Q8IXQ5 KLHL7_HUMAN kelch-like family member 7 583.0 protein ubiquitination (GO:0016567) Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) protein homodimerization activity (GO:0042803) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25.0 AATGAAGAGACCCTTGAAACA 0.408 0 110.0 110.0 110.0 7 23213904.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1 7p15.3 2013-01-30 2013-01-30 ENSG00000122550 ENSG00000122550 55975.0 55975.0 """Kelch-like"", ""BTB/POZ domain containing""" 15646.0 protein-coding gene gene with protein product """retinitis pigmentosa 42""" 611119.0 """kelch-like 7 (Drosophila)""" 19520207 Standard NM_018846 NM_001031710 Approved KLHL6, SBBI26, RP42 uc003svs.4 Q8IXQ5 OTTHUMG00000094813 ENST00000339077.5:c.1748C>A 7.__UNKNOWN__:g.23213904C>A ENSP00000343273:p.Thr583Asn A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9 __UNKNOWN__ CCDS34609.1 . . . . . . . . . . C 17.21 3.332027 0.60853 . . ENSG00000122550 ENST00000538858;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443 T;T;T;T;T;T 0.73363 -0.61;-0.61;-0.56;-0.74;-0.6;-0.61 5.05 5.05 0.67936 . 0.109676 0.64402 D 0.000005 T 0.68256 0.2981 N 0.08118 0 0.58432 D 0.999997 P;P;P 0.42039 0.659;0.659;0.769 B;B;P 0.49332 0.403;0.403;0.607 T 0.75382 -0.3337 10 0.66056 D 0.02 . 18.775 0.91908 0.0:1.0:0.0:0.0 . 358;583;561 B7Z3P9;Q8IXQ5;Q8IXQ5-2 .;KLHL7_HUMAN;. N 424;561;583;507;358;535;561 ENSP00000322958:T561N;ENSP00000343273:T583N;ENSP00000441136:T507N;ENSP00000442367:T358N;ENSP00000386263:T535N;ENSP00000442366:T561N ENSP00000322958:T561N T + 2 0 KLHL7 23180429 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 6.565000 0.73974 2.506000 0.84524 0.655000 0.94253 ACC KLHL7-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000326860.3 + ENST00000339077.5 Missense_Mutation SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 IL6ST 3572 broad.mit.edu 37 5 55259298 55259298 + Missense_Mutation SNP T T C TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr5:55259298T>C ENST00000381298.2 - 7.0 1007 c.695A>G c.(694-696)aAc>aGc p.N232S IL6ST_ENST00000536319.1_Missense_Mutation_p.N232S|IL6ST_ENST00000336909.5_Missense_Mutation_p.N232S|IL6ST_ENST00000381293.2_Missense_Mutation_p.N66S|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.N232S|IL6ST_ENST00000522633.2_Missense_Mutation_p.N232S|IL6ST_ENST00000502326.3_Missense_Mutation_p.N232S|IL6ST_ENST00000381287.4_Missense_Mutation_p.N232S 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 232.0 Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}. ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032) ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886) ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803) breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26.0 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) TTCCTCTGAGTTGATCACTGA 0.294 O hepatocellular ca Dom yes 5 5q11 3572.0 """interleukin 6 signal transducer (gp130, oncostatin M receptor)""" E 0 97.0 100.0 99.0 5 55259298.0 2203.0 4300.0 6503.0 SO:0001583 missense M57230 CCDS3971.1, CCDS47209.1, CCDS54856.1 5q11.2 2014-04-04 2014-04-04 ENSG00000134352 ENSG00000134352 3572.0 3572.0 """Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing""" 6021.0 protein-coding gene gene with protein product """gp130, oncostatin M receptor""" 600694.0 """interleukin 6 signal transducer (gp130, oncostatin M receptor)""" 2261637 Standard NM_002184 NM_002184 Approved GP130, CD130 uc003jqq.3 P40189 OTTHUMG00000097043 ENST00000381298.2:c.695A>G 5.__UNKNOWN__:g.55259298T>C ENSP00000370698:p.Asn232Ser A0N0L4|Q5FC04|Q9UQ41 __UNKNOWN__ CCDS3971.1 . . . . . . . . . . T 9.449 1.090049 0.20390 . . ENSG00000134352 ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000381293;ENST00000522633;ENST00000542298 T;T;T;T;T;T;T 0.57107 0.42;0.42;0.42;0.42;0.42;0.42;0.42 5.91 3.57 0.40892 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.816425 0.11492 N 0.558609 T 0.32164 0.0820 N 0.25647 0.755 0.80722 D 1 B;B;B;B 0.24576 0.106;0.0;0.0;0.0 B;B;B;B 0.23574 0.047;0.0;0.0;0.001 T 0.12319 -1.0552 10 0.05436 T 0.98 . 5.8146 0.18486 0.0:0.1445:0.1417:0.7138 . 66;232;232;232 Q5FC05;Q5FC04;P40189-2;P40189 .;.;.;IL6RB_HUMAN S 232;232;232;232;232;66;232;232 ENSP00000370698:N232S;ENSP00000338799:N232S;ENSP00000370694:N232S;ENSP00000370687:N232S;ENSP00000444456:N232S;ENSP00000370693:N66S;ENSP00000435399:N232S ENSP00000338799:N232S N - 2 0 IL6ST 55295055 0.581000 0.26741 1.000000 0.80357 0.992000 0.81027 0.017000 0.13399 1.067000 0.40740 0.533000 0.62120 AAC IL6ST-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000214146.3 - ENST00000381298.2 Missense_Mutation SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 NFE2L2 4780 broad.mit.edu 37 2 178095651 178095651 + Silent SNP T T C TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr2:178095651T>C ENST00000446151.2 - 5.0 1783 c.1611A>G c.(1609-1611)ttA>ttG p.L537L NFE2L2_ENST00000464747.1_Silent_p.L544L|NFE2L2_ENST00000397063.4_Silent_p.L544L|NFE2L2_ENST00000397062.3_Silent_p.L560L Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 560.0 bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}. cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366) centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700) 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) 158.0 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) CTTCGAGATATAAGGTGCTGA 0.358 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) Dom yes 2 2q31 4780.0 nuclear factor (erythroid-derived 2)-like 2 (NRF2) E 0 T ,, 0,3708 0,0,1854 206.0 186.0 192.0 1632,1611,1680 0.9 1.0 2 192.0 1,8183 0,1,4091 no coding-synonymous,coding-synonymous,coding-synonymous NFE2L2 NM_001145412.1,NM_001145413.1,NM_006164.3 ,, 0,1,5945 CC,CT,TT 0.0122,0.0,0.0084 ,, 544/590,537/583,560/606 178095651.0 1,11891 1854.0 4092.0 5946.0 SO:0001819 synonymous_variant CCDS42782.1, CCDS46457.1, CCDS46458.1 2q31 2013-08-23 2013-08-23 ENSG00000116044 ENSG00000116044 4780.0 4780.0 """basic leucine zipper proteins""" 7782.0 protein-coding gene gene with protein product """NF-E2-related factor 2""" 600492.0 """nuclear factor (erythroid-derived 2)-like 2""" 7937919 Standard NM_006164 NM_006164 Approved NRF2 uc002ulh.5 Q16236 OTTHUMG00000133620 ENST00000446151.2:c.1611A>G 2.__UNKNOWN__:g.178095651T>C B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71 __UNKNOWN__ CCDS46458.1 NFE2L2-008 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000334263.1 - ENST00000446151.2 Silent SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 ZMYND8 23613 broad.mit.edu 37 20 45910870 45910871 + Missense_Mutation DNP GC GC AT TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr20:45910870_45910871GC>AT ENST00000458360.2 - 10.0 947_948 c.898_899GC>AT c.(898-900)GCc>ATc p.A300I ZMYND8_ENST00000355972.4_Missense_Mutation_p.A305I|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A305I|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A332I|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A325I|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A300I|ZMYND8_ENST00000540497.1_Missense_Mutation_p.A300I|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A325I|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A242I|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A325I|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A300I|ZMYND8_ENST00000311275.7_Missense_Mutation_p.A305I|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A305I NM_001281771.1 NP_001268700.1 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 305.0 PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}. negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270) 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) 62.0 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) AAAGAATCGGGCATCGACCTGC 0.45 0 SO:0001583 missense U48251 CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1 20q13.12 2013-01-28 2007-01-29 2007-01-29 ENSG00000101040 ENSG00000101040 23613.0 23613.0 """Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type""" 9397.0 protein-coding gene gene with protein product 615713.0 """protein kinase C binding protein 1""" PRKCBP1 Standard NM_183047 NM_001281769 Approved RACK7 uc002xtb.1 Q9ULU4 OTTHUMG00000032667 ENST00000458360.2:c.898_899delinsAT 20.__UNKNOWN__:g.45910870_45910871delinsAT ENSP00000392964:p.Ala300Ile B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6 __UNKNOWN__ ZMYND8-011 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000354388.1 - ENST00000458360.2 Missense_Mutation DNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 ZNF485 220992 broad.mit.edu 37 10 44112593 44112593 + Missense_Mutation SNP A A G TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr10:44112593A>G ENST00000361807.3 + 5.0 1296 c.1102A>G c.(1102-1104)Acc>Gcc p.T368A ZNF485_ENST00000374437.2_Missense_Mutation_p.T277A|ZNF485_ENST00000374435.3_Missense_Mutation_p.T368A NM_145312.3 NP_660355.2 Q8NCK3 ZN485_HUMAN zinc finger protein 485 368.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16.0 AAAGAGCTCAACCCTTACTGG 0.443 0 97.0 86.0 89.0 10 44112593.0 2203.0 4300.0 6503.0 SO:0001583 missense AK074679 CCDS7205.2 10q11.21 2013-01-08 ENSG00000198298 ENSG00000198298 220992.0 220992.0 """Zinc fingers, C2H2-type"", ""-""" 23440.0 protein-coding gene gene with protein product Standard NM_145312 NM_145312 Approved uc010qfc.2 Q8NCK3 OTTHUMG00000018040 ENST00000361807.3:c.1102A>G 10.__UNKNOWN__:g.44112593A>G ENSP00000354694:p.Thr368Ala B4DSE6|Q96CL0 __UNKNOWN__ CCDS7205.2 . . . . . . . . . . A 1.304 -0.604060 0.03717 . . ENSG00000198298 ENST00000361807;ENST00000374437;ENST00000374435 T;T;T 0.06849 3.25;3.25;3.25 1.86 -0.72 0.11195 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.03305 0.0096 N 0.16066 0.365 0.09310 N 1 B 0.10296 0.003 B 0.15052 0.012 T 0.45440 -0.9261 9 0.05351 T 0.99 . 3.648 0.08192 0.3384:0.4835:0.1781:0.0 . 368 Q8NCK3 ZN485_HUMAN A 368;277;368 ENSP00000354694:T368A;ENSP00000363560:T277A;ENSP00000363558:T368A ENSP00000354694:T368A T + 1 0 ZNF485 43432599 0.000000 0.05858 0.000000 0.03702 0.974000 0.67602 -2.463000 0.00996 -0.196000 0.10366 0.260000 0.18958 ACC ZNF485-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047719.2 + ENST00000361807.3 Missense_Mutation SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 INPP1 3628 broad.mit.edu 37 2 191231466 191231466 + Missense_Mutation SNP C C G TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr2:191231466C>G ENST00000322522.4 + 4.0 767 c.311C>G c.(310-312)gCa>gGa p.A104G INPP1_ENST00000541441.1_Missense_Mutation_p.A104G|INPP1_ENST00000392329.2_Missense_Mutation_p.A104G NM_002194.3 NP_002185.1 P49441 INPP_HUMAN inositol polyphosphate-1-phosphatase 104.0 dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872) cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 11.0 OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057) GAGGAAACAGCAGAGCTTCTT 0.448 Melanoma(130;184 1743 2185 19805 38428) 0 162.0 160.0 161.0 2 191231466.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS2305.1 2q32 2008-02-07 ENSG00000151689 ENSG00000151689 3628.0 3628.0 3.1.3.57 6071.0 protein-coding gene gene with protein product 147263.0 8390685 Standard NM_002194 Approved uc010fsb.3 P49441 OTTHUMG00000132672 ENST00000322522.4:c.311C>G 2.__UNKNOWN__:g.191231466C>G ENSP00000325423:p.Ala104Gly __UNKNOWN__ CCDS2305.1 . . . . . . . . . . C 12.80 2.047487 0.36085 . . ENSG00000151689 ENST00000392329;ENST00000322522;ENST00000541441;ENST00000431594;ENST00000444194;ENST00000458647;ENST00000423767;ENST00000409027 T;T;T;T;T;T;T;T 0.28454 1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61 5.61 -2.27 0.06846 . 0.589442 0.18513 N 0.138997 T 0.22666 0.0547 L 0.49778 1.585 0.09310 N 1 B 0.17667 0.023 B 0.21360 0.034 T 0.25117 -1.0141 10 0.25106 T 0.35 -3.9546 9.05 0.36369 0.0:0.6077:0.2573:0.135 . 104 P49441 INPP_HUMAN G 104 ENSP00000376142:A104G;ENSP00000325423:A104G;ENSP00000440650:A104G;ENSP00000409786:A104G;ENSP00000404732:A104G;ENSP00000392814:A104G;ENSP00000395424:A104G;ENSP00000387079:A104G ENSP00000325423:A104G A + 2 0 INPP1 190939711 0.002000 0.14202 0.002000 0.10522 0.989000 0.77384 0.109000 0.15417 -0.351000 0.08249 -0.355000 0.07637 GCA INPP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255932.2 + ENST00000322522.4 Missense_Mutation SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 SCML2 10389 broad.mit.edu 37 X 18283726 18283726 + Frame_Shift_Del DEL T T - TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chrX:18283726delT ENST00000251900.4 - 8.0 1086 c.927delA c.(925-927)aaafs p.K309fs SCML2_ENST00000398048.3_Frame_Shift_Del_p.K45fs NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 309.0 anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|PcG protein complex (GO:0031519) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36.0 Hepatocellular(33;0.183) AGTTTGGACCTTTTTTCCTTG 0.358 Esophageal Squamous(100;1252 1965 19021 35517) 0 204.0 191.0 195.0 X 18283726.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant Y18004 CCDS14185.1 Xp22 2013-01-10 2001-11-28 ENSG00000102098 ENSG00000102098 10389.0 10389.0 """Sterile alpha motif (SAM) domain containing""" 10581.0 protein-coding gene gene with protein product 300208.0 """sex comb on midleg (Drosophila)-like 2""" 10331946 Standard NM_006089 NM_006089 Approved uc004cyl.2 Q9UQR0 OTTHUMG00000021212 ENST00000251900.4:c.927delA X.__UNKNOWN__:g.18283726delT ENSP00000251900:p.Lys309fs Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5 __UNKNOWN__ CCDS14185.1 SCML2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055941.1 - ENST00000251900.4 Frame_Shift_Del DEL PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 A2ML1 144568 bcgsc.ca 37 12 8995876 8995876 + Silent SNP C C T TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr12:8995876C>T ENST00000299698.7 + 12.0 1575 c.1395C>T c.(1393-1395)ggC>ggT p.G465G NM_001282424.1|NM_144670.4 NP_001269353.1|NP_653271 alpha-2-macroglobulin-like 1 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) 80.0 TGAAATGTGGCCAGCCCCAGG 0.567 0 73.0 73.0 73.0 12 8995876.0 1965.0 4151.0 6116.0 SO:0001819 synonymous_variant AK057908 CCDS8596.2, CCDS73439.1 12p13 2010-12-14 2005-09-01 2005-09-01 ENSG00000166535 ENSG00000166535 144568.0 144568.0 23336.0 protein-coding gene gene with protein product 610627 """C3 and PZP-like, alpha-2-macroglobulin domain containing 9""" CPAMD9 16298998 Standard NM_144670 NM_144670 Approved FLJ25179 uc001quz.5 A8K2U0 OTTHUMG00000128499 ENST00000299698.7:c.1395C>T 12.__UNKNOWN__:g.8995876C>T __UNKNOWN__ CCDS8596.2 A2ML1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250304.3 + ENST00000299698.7 Silent SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 Unknown 0 bcgsc.ca 37 2 108537462 108537462 + RNA SNP C C T TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr2:108537462C>T RGPD4 (30165 upstream) : SLC5A7 (65516 downstream) TATCACCATTCGACAGTTCCA 0.478 0 SO:0001628 intergenic_variant 2.__UNKNOWN__:g.108537462C>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 DCLRE1A 9937 bcgsc.ca 37 10 115609145 115609145 + Silent SNP T T C TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr10:115609145T>C ENST00000361384.2 - 2.0 2636 c.1719A>G c.(1717-1719)aaA>aaG p.K573K DCLRE1A_ENST00000369305.1_Silent_p.K573K NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 573.0 Nuclear focus formation. mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289) nucleus (GO:0005634) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31.0 Epithelial(162;0.0157)|all cancers(201;0.0171) CCCCTAGCAATTTCTCTTCCT 0.393 Other identified genes with known or suspected DNA repair function 0 157.0 155.0 156.0 10 115609145.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS7584.1 10q25.1 2010-06-24 2010-06-24 ENSG00000198924 ENSG00000198924 9937.0 9937.0 17660.0 protein-coding gene gene with protein product """PSO2 homolog (S. cerevisiae)""" 609682 """DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)""" 9806498, 17804464 Standard NM_014881 NM_014881 Approved SNM1, PSO2, KIAA0086, hSNM1 uc031pxf.1 Q6PJP8 OTTHUMG00000019077 ENST00000361384.2:c.1719A>G 10.__UNKNOWN__:g.115609145T>C D3DRC1|Q14701|Q6P5Y3|Q6PKL4 __UNKNOWN__ CCDS7584.1 DCLRE1A-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050444.1 - ENST00000361384.2 Silent SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 Unknown 390539 bcgsc.ca 37 15 22413880 22413880 + RNA SNP C C T TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr15:22413880C>T RP11-69H14.6 (30072 upstream) : RP11-2F9.4 (20009 downstream) AACTCTAGAGCCTGCTATGCA 0.517 0 SO:0001628 intergenic_variant 15.__UNKNOWN__:g.22413880C>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 KDM3B 51780 hgsc.bcm.edu 37 5 137756465 137756465 + Silent SNP C C A TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 C C . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr5:137756465C>A ENST00000314358.5 + 15.0 3986 c.3786C>A c.(3784-3786)tcC>tcA p.S1262S KDM3B_ENST00000394866.1_Silent_p.S918S|KDM3B_ENST00000542866.1_Silent_p.S294S|KDM3B_ENST00000508386.1_3'UTR NM_016604.3 NP_057688 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1262.0 chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872) 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) 65.0 CGTTCAACTCCACTGCAAAGG 0.507 0 99.0 97.0 98.0 5 137756465.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF251039 CCDS34242.1 5q31 2011-07-01 2009-04-06 2009-04-06 ENSG00000120733 ENSG00000120733 51780.0 51780.0 """Chromatin-modifying enzymes / K-demethylases""" 1337.0 protein-coding gene gene with protein product 609373 """chromosome 5 open reading frame 7"", ""jumonji domain containing 1B""" C5orf7, JMJD1B 15138608 Standard NM_016604 NM_016604 Approved KIAA1082, NET22 uc003lcy.1 Q7LBC6 OTTHUMG00000163469 ENST00000314358.5:c.3786C>A 5.__UNKNOWN__:g.137756465C>A A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0 __UNKNOWN__ CCDS34242.1 KDM3B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000373597.1 + ENST00000314358.5 Silent SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 TMC6 11322 hgsc.bcm.edu 37 17 76113575 76113575 + Silent SNP A A G rs139010324 byFrequency TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 A A . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr17:76113575A>G ENST00000590602.1 - 17.0 2331 c.2172T>C c.(2170-2172)ttT>ttC p.F724F TMC6_ENST00000322933.4_Silent_p.F303F|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000591436.1_Silent_p.F303F|TMC6_ENST00000322914.3_Silent_p.F724F|TMC6_ENST00000392467.3_Silent_p.F724F|TMC6_ENST00000306591.7_Intron Q7Z403 TMC6_HUMAN transmembrane channel-like 6 724.0 ion transport (GO:0006811) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 14.0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CCAGGAAGACAAAGAAGGTGT 0.697 0 A , 7,4387 0,7,2190 19.0 20.0 20.0 2172,2172 0.2 0.2 17 dbSNP_134 20.0 0,8588 0,0,4294 no coding-synonymous,coding-synonymous TMC6 NM_001127198.1,NM_007267.6 , 0,7,6484 GG,GA,AA 0.0,0.1593,0.0539 , 724/806,724/806 76113575.0 7,12975 2197.0 4294.0 6491.0 SO:0001819 synonymous_variant AY057379 CCDS32748.1 17q25.3 2014-09-17 2005-11-10 2005-11-10 ENSG00000141524 ENSG00000141524 11322.0 11322.0 18021.0 protein-coding gene gene with protein product 605828 """epidermodysplasia verruciformis 1""" EVER1 12426567 Standard NM_007267 Approved LAK-4P, EVIN1 uc002juk.2 Q7Z403 OTTHUMG00000177466 ENST00000590602.1:c.2172T>C 17.__UNKNOWN__:g.76113575A>G O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5 __UNKNOWN__ CCDS32748.1 TMC6-007 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000437146.1 - ENST00000590602.1 Silent SNP PCPG-TCGA-QR-A70C-Normal-SM-5EQF1 KCNH3 23416 broad.mit.edu 37 12 49938149 49938149 + Silent SNP C C T TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr12:49938149C>T ENST00000257981.6 + 7.0 1433 c.1173C>T c.(1171-1173)tcC>tcT p.S391S NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 391.0 potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249) NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36.0 GCAGCGAATCCGAGCTGCCTG 0.612 0 52.0 45.0 47.0 12 49938149.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB022696 CCDS8786.1 12q13 2012-07-05 ENSG00000135519 23416.0 23416.0 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels""" 6252.0 protein-coding gene gene with protein product 604527.0 10455180, 16382104 Standard NM_012284 NM_012284 Approved Kv12.2, BEC1, elk2 uc001ruh.1 Q9ULD8 OTTHUMG00000169517 ENST00000257981.6:c.1173C>T 12.__UNKNOWN__:g.49938149C>T Q9UQ06 __UNKNOWN__ CCDS8786.1 KCNH3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404571.2 + ENST00000257981.6 Silent SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 ZC3H7B 23264 broad.mit.edu 37 22 41735127 41735127 + Missense_Mutation SNP G G A TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr22:41735127G>A ENST00000352645.4 + 9.0 1005 c.748G>A c.(748-750)Gac>Aac p.D250N ZC3H7B_ENST00000351589.4_Missense_Mutation_p.D250N NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 266.0 viral process (GO:0016032) nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) 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) 38.0 CCCCAGCACCGACAGCCTGGA 0.662 0 98.0 84.0 88.0 22 41735127.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS14013.1 22q13.2 2013-01-10 2005-08-09 ENSG00000100403 ENSG00000100403 23264.0 23264.0 """Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing""" 30869.0 protein-coding gene gene with protein product 10470851, 11230166 Standard NM_017590 NM_017590 Approved RoXaN, FLJ13787, DKFZp434K0920, KIAA1031 uc003azw.4 Q9UGR2 OTTHUMG00000150969 ENST00000352645.4:c.748G>A 22.__UNKNOWN__:g.41735127G>A ENSP00000345793:p.Asp250Asn A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9 __UNKNOWN__ CCDS14013.1 . . . . . . . . . . G 12.81 2.048891 0.36181 . . ENSG00000100403 ENST00000352645;ENST00000351589 T;T 0.11604 2.76;2.76 4.98 4.98 0.66077 . 0.185402 0.45867 D 0.000323 T 0.07143 0.0181 N 0.14661 0.345 0.31091 N 0.71081 B 0.28933 0.228 B 0.20184 0.028 T 0.09975 -1.0650 10 0.15066 T 0.55 -25.9826 18.2407 0.89967 0.0:0.0:1.0:0.0 . 250 Q9UGR2-2 . N 250 ENSP00000345793:D250N;ENSP00000263243:D250N ENSP00000263243:D250N D + 1 0 ZC3H7B 40065073 1.000000 0.71417 0.852000 0.33557 0.604000 0.37047 6.674000 0.74487 2.286000 0.76751 0.561000 0.74099 GAC ZC3H7B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320696.1 + ENST00000352645.4 Missense_Mutation SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 SLC52A1 55065 broad.mit.edu 37 17 4937900 4937900 + Translation_Start_Site SNP A A G TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr17:4937900A>G ENST00000512825.2 - 2.0 1413 c.2T>C c.(1-3)aTg>aCg p.M1T SLC52A1_ENST00000424747.1_Start_Codon_SNP_p.M1T|SLC52A1_ENST00000254853.5_Start_Codon_SNP_p.M1T Q9NWF4 S52A1_HUMAN solute carrier family 52 (riboflavin transporter), member 1 1.0 riboflavin transport (GO:0032218) integral component of plasma membrane (GO:0005887) riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618) GGGTGCTGCCATTCAGCCCAA 0.597 0 44.0 45.0 45.0 17 4937900.0 2203.0 4300.0 6503.0 SO:0001582 initiator_codon_variant AY070775 CCDS11066.1 17p13.3 2013-07-17 2013-07-17 2012-02-29 ENSG00000132517 ENSG00000132517 55065.0 55065.0 """Solute carriers""" 30225.0 protein-coding gene gene with protein product """riboflavin transporter 1""" 607883.0 """G protein-coupled receptor 172B""" GPR172B 12740431, 18632736 Standard NM_017986 NM_001104577 Approved FLJ10060, GPCR42, PAR2, hRFT1, RFVT1 uc002gao.4 Q9NWF4 OTTHUMG00000099448 ENST00000512825.2:c.2T>C 17.__UNKNOWN__:g.4937900A>G ENSP00000443026:p.Met1Thr B5MEV1|B5MEV2|Q6P9E0|Q86UT0 __UNKNOWN__ . . . . . . . . . . A 13.85 2.360859 0.41801 . . ENSG00000132517 ENST00000254853;ENST00000512825;ENST00000424747 T;T;T 0.75154 -0.91;-0.73;-0.91 2.21 1.09 0.20402 . 0.122013 0.50627 D 0.000111 T 0.81422 0.4819 . . . 0.80722 D 1 D;D 0.58970 0.984;0.973 D;P 0.66716 0.946;0.885 T 0.78593 -0.2144 9 0.87932 D 0 . 5.576 0.17222 0.8422:0.0:0.1578:0.0 . 1;1 F5H5Y1;Q9NWF4 .;RFT_HUMAN T 1 ENSP00000254853:M1T;ENSP00000443026:M1T;ENSP00000399979:M1T ENSP00000254853:M1T M - 2 0 GPR172B 4878624 0.986000 0.35501 0.576000 0.28549 0.881000 0.50899 1.079000 0.30766 0.279000 0.22186 0.528000 0.53228 ATG SLC52A1-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000438891.1 Missense_Mutation - ENST00000512825.2 Start_Codon_SNP SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 PIK3CB 5291 broad.mit.edu 37 3 138382751 138382751 + Silent SNP G G A TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr3:138382751G>A ENST00000477593.1 - 20.0 2866 c.2793C>T c.(2791-2793)ggC>ggT p.G931G PIK3CB_ENST00000289153.2_Silent_p.G931G|PIK3CB_ENST00000544716.1_Silent_p.G382G P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 931.0 PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}. activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934) NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41.0 Caffeine(DB00201) AGCTCACCTGGCCAGTTTTTT 0.433 0 108.0 102.0 104.0 3 138382751.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS3104.1 3q22.3 2013-09-19 2012-07-13 ENSG00000051382 ENSG00000051382 5291.0 5291.0 2.7.1.153 8976.0 protein-coding gene gene with protein product 602925.0 """phosphoinositide-3-kinase, catalytic, beta polypeptide""" PIK3C1 8246984 Standard NM_006219 Approved uc011bmq.3 P42338 OTTHUMG00000159893 ENST00000477593.1:c.2793C>T 3.__UNKNOWN__:g.138382751G>A D3DNF0|Q24JU2 __UNKNOWN__ CCDS3104.1 . . . . . . . . . . G 9.665 1.145193 0.21288 . . ENSG00000051382 ENST00000493568 . . . 5.78 1.7 0.24286 . . . . . T 0.43545 0.1252 . . . 0.80722 D 1 . . . . . . T 0.24728 -1.0152 4 . . . -16.0574 2.298 0.04155 0.2431:0.3259:0.3187:0.1123 . . . . V 563 . . A - 2 0 PIK3CB 139865441 0.073000 0.21202 1.000000 0.80357 0.985000 0.73830 -0.599000 0.05700 0.430000 0.26230 0.655000 0.94253 GCC PIK3CB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000358019.1 - ENST00000477593.1 Silent SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 MYH14 79784 broad.mit.edu 37 19 50720881 50720881 + Missense_Mutation SNP G G A TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr19:50720881G>A ENST00000601313.1 + 3.0 445 c.415G>A c.(415-417)Ggc>Agc p.G139S MYH14_ENST00000440075.2_Missense_Mutation_p.G139S|MYH14_ENST00000262269.8_Missense_Mutation_p.G139S|MYH14_ENST00000598205.1_Missense_Mutation_p.G139S|MYH14_ENST00000596571.1_Missense_Mutation_p.G139S|MYH14_ENST00000425460.1_Missense_Mutation_p.G139S|MYH14_ENST00000376970.2_Missense_Mutation_p.G139S NM_001145809.1 NP_001139281.1 Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 139.0 Myosin motor. actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625) actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725) actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146) central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46.0 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GACGTACTCCGGCCTTTTCTG 0.602 0 115.0 126.0 122.0 19 50720881.0 2200.0 4296.0 6496.0 SO:0001583 missense AY165122 CCDS46151.1, CCDS54295.1, CCDS59411.1 19q13.33 2011-09-27 2009-11-19 ENSG00000105357 79784.0 79784.0 """Myosins / Myosin superfamily : Class II""" 23212.0 protein-coding gene gene with protein product 608568.0 """myosin, heavy polypeptide 14"", ""myosin, heavy chain 14""" DFNA4 12909352, 15015131, 17940200 Standard NM_024729 NM_024729 Approved FLJ13881, KIAA2034, MHC16, MYH17 uc010enu.1 Q7Z406 ENST00000601313.1:c.415G>A 19.__UNKNOWN__:g.50720881G>A ENSP00000470298:p.Gly139Ser B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882 __UNKNOWN__ CCDS54295.1 . . . . . . . . . . G 18.96 3.734538 0.69189 . . ENSG00000105357 ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269 D;D;D;D 0.92495 -3.05;-3.05;-3.05;-3.05 4.36 4.36 0.52297 Myosin head, motor domain (3); . . . . D 0.97120 0.9059 H 0.95539 3.685 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.998;0.999;0.999 D 0.98016 1.0368 9 0.87932 D 0 . 14.7762 0.69734 0.0:0.0:1.0:0.0 . 139;139;139 Q7Z406-2;Q7Z406;Q7Z406-6 .;MYH14_HUMAN;. S 139 ENSP00000406273:G139S;ENSP00000366169:G139S;ENSP00000407879:G139S;ENSP00000262269:G139S ENSP00000262269:G139S G + 1 0 MYH14 55412693 1.000000 0.71417 0.978000 0.43139 0.166000 0.22503 9.596000 0.98267 2.439000 0.82584 0.655000 0.94253 GGC MYH14-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000464709.2 + ENST00000601313.1 Missense_Mutation SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 BAZ2A 11176 broad.mit.edu 37 12 57009121 57009121 + Missense_Mutation SNP T T C TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr12:57009121T>C ENST00000549884.1 - 3.0 495 c.407A>G c.(406-408)cAt>cGt p.H136R BAZ2A_ENST00000379441.3_Missense_Mutation_p.H138R|BAZ2A_ENST00000179765.5_Missense_Mutation_p.H136R|BAZ2A_ENST00000551812.1_Missense_Mutation_p.H138R Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 138.0 chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553) DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270) breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31.0 GTTAGTGTTATGACTTGGGGA 0.547 0 78.0 78.0 78.0 12 57009121.0 1920.0 4126.0 6046.0 SO:0001583 missense AB032254 CCDS44924.1, CCDS73483.1 12q13.3 2013-01-28 ENSG00000076108 11176.0 11176.0 """Zinc fingers, PHD-type""" 962.0 protein-coding gene gene with protein product """TTF-I interacting peptide 5""" 605682.0 10662543, 11532953 Standard NM_013449 XM_005268596 Approved KIAA0314, TIP5, WALp3 uc001slq.1 Q9UIF9 OTTHUMG00000170332 ENST00000549884.1:c.407A>G 12.__UNKNOWN__:g.57009121T>C ENSP00000447941:p.His136Arg B3KN66|O00536|O15030|Q68DI8|Q96H26 __UNKNOWN__ . . . . . . . . . . T 15.53 2.861259 0.51482 . . ENSG00000076108 ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884 T;T;T;T 0.15952 2.38;2.38;2.38;2.38 4.75 4.75 0.60458 . 0.219149 0.38663 N 0.001619 T 0.11665 0.0284 N 0.14661 0.345 0.30897 N 0.729663 B;B;B 0.28636 0.103;0.218;0.139 B;B;B 0.31101 0.039;0.124;0.058 T 0.07385 -1.0775 10 0.59425 D 0.04 . 12.1768 0.54190 0.0:0.0:0.0:1.0 . 138;136;138 B7Z8F7;F8VU39;Q9UIF9 .;.;BAZ2A_HUMAN R 138;136;138;136 ENSP00000368754:H138R;ENSP00000179765:H136R;ENSP00000446880:H138R;ENSP00000447941:H136R ENSP00000179765:H136R H - 2 0 BAZ2A 55295388 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 3.037000 0.49775 2.126000 0.65437 0.533000 0.62120 CAT BAZ2A-003 NOVEL basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000408563.1 - ENST00000549884.1 Missense_Mutation SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 SGTA 6449 broad.mit.edu 37 19 2769040 2769040 + Silent SNP G G A TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr19:2769040G>A ENST00000221566.2 - 2.0 188 c.27C>T c.(25-27)taC>taT p.Y9Y NM_003021.3 NP_003012.1 O43765 SGTA_HUMAN small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha 9.0 viral process (GO:0016032) cytoplasm (GO:0005737) p.Y9Y(1) endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 7.0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGATGATGGCGTAGGCCAGGC 0.617 1 Substitution - coding silent(1) endometrium(1) 80.0 85.0 83.0 19 2769040.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AJ223828 CCDS12094.1 19p13 2013-01-10 2003-11-24 2003-11-26 ENSG00000104969 6449.0 6449.0 """Tetratricopeptide (TTC) repeat domain containing""" 10819.0 protein-coding gene gene with protein product 603419.0 """small glutamine-rich tetratricopeptide repeat (TPR)-containing""" SGT 9740675, 12735788 Standard NM_003021 NM_003021 Approved uc002lwi.1 O43765 ENST00000221566.2:c.27C>T 19.__UNKNOWN__:g.2769040G>A D6W610|Q6FIA9|Q9BTZ9 __UNKNOWN__ CCDS12094.1 SGTA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451448.2 - ENST00000221566.2 Silent SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 IPO8 10526 broad.mit.edu 37 12 30818753 30818753 + Silent SNP A A G TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr12:30818753A>G ENST00000544829.1 - 8.0 957 c.633T>C c.(631-633)tgT>tgC p.C211C IPO8_ENST00000256079.4_Silent_p.C416C NM_001190995.1 NP_001177924.1 O15397 IPO8_HUMAN importin 8 416.0 intracellular protein transport (GO:0006886)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|nucleus (GO:0005634) Ran GTPase binding (GO:0008536) 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) 52.0 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) GGATTTGATAACAGAATGCCA 0.378 0 93.0 94.0 94.0 12 30818753.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U77494 CCDS8719.1, CCDS53773.1 12p11.21 2011-05-23 2003-03-11 2003-03-14 ENSG00000133704 ENSG00000133704 10526.0 10526.0 """Importins""" 9853.0 protein-coding gene gene with protein product 605600.0 """RAN binding protein 8""" RANBP8 9214382 Standard NM_006390 NM_006390 Approved IMP8 uc001rjd.3 O15397 OTTHUMG00000169172 ENST00000544829.1:c.633T>C 12.__UNKNOWN__:g.30818753A>G B7Z7M3 __UNKNOWN__ CCDS53773.1 IPO8-002 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000402699.1 - ENST00000544829.1 Silent SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 AHNAK2 113146 broad.mit.edu 37 14 105417094 105417094 + Missense_Mutation SNP G G T TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr14:105417094G>T ENST00000557457.1 - 1.0 24 AHNAK2_ENST00000333244.5_Missense_Mutation_p.P1565H Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33.0 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) CTCGGACACAGGGCCCTCTGG 0.607 0 99.0 102.0 101.0 14 105417094.0 1874.0 4057.0 5931.0 SO:0001627 intron_variant AB095939 CCDS45177.1 14q32.33 2010-04-01 2007-03-26 2007-03-26 ENSG00000185567 ENSG00000185567 113146.0 113146.0 20125.0 protein-coding gene gene with protein product 608570.0 """chromosome 14 open reading frame 78""" C14orf78 15007166 Standard NM_138420 NM_138420 Approved uc010axc.1 Q8IVF2 ENST00000557457.1:c.219+3123C>A 14.__UNKNOWN__:g.105417094G>T Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9 __UNKNOWN__ . . . . . . . . . . g 1.710 -0.499229 0.04291 . . ENSG00000185567 ENST00000333244 T 0.00724 5.78 3.66 -7.33 0.01431 . . . . . T 0.00210 0.0006 N 0.00063 -2.32 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.49995 -0.8879 9 0.38643 T 0.18 . 0.8871 0.01246 0.2124:0.2311:0.3212:0.2353 . 1565 Q8IVF2 AHNK2_HUMAN H 1565 ENSP00000353114:P1565H ENSP00000353114:P1565H P - 2 0 AHNAK2 104488139 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.290000 0.08354 -1.672000 0.01464 -2.718000 0.00132 CCT AHNAK2-003 PUTATIVE basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000410299.1 - ENST00000557457.1 Intron SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 TAF1 6872 broad.mit.edu 37 X 70603867 70603867 + Missense_Mutation SNP C C T TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chrX:70603867C>T ENST00000276072.3 + 13.0 2073 c.2063C>T c.(2062-2064)aCa>aTa p.T688I TAF1_ENST00000423759.1_Missense_Mutation_p.T688I|TAF1_ENST00000449580.1_Missense_Mutation_p.T667I|TAF1_ENST00000373790.4_Missense_Mutation_p.T667I P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 667.0 Histone acetyltransferase (HAT). cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669) ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) 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) 124.0 Renal(35;0.156) all_lung(315;0.000321) TTTATGCGCACACCTCAGGAC 0.448 0 221.0 178.0 192.0 X 70603867.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS14412.1, CCDS35325.1, CCDS69783.1 Xq13.1 2011-07-01 2002-08-29 2001-12-07 ENSG00000147133 ENSG00000147133 6872.0 6872.0 """Chromatin-modifying enzymes / K-acetyltransferases""" 11535.0 protein-coding gene gene with protein product 313650.0 """TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)""" TAF2A, BA2R, CCG1, CCGS, DYT3 3556424, 12928496, 17952504 Standard NM_004606 XM_005262295 Approved NSCL2, TAFII250, KAT4, DYT3/TAF1 uc004dzt.4 P21675 OTTHUMG00000022723 ENST00000276072.3:c.2063C>T X.__UNKNOWN__:g.70603867C>T ENSP00000276072:p.Thr688Ile A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03 __UNKNOWN__ CCDS14412.1 . . . . . . . . . . . 26.8 4.774156 0.90108 . . ENSG00000147133 ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072 T;T;T;T 0.15139 2.45;2.45;2.45;2.45 5.88 5.88 0.94601 Transcription initiation factor TFIID subunit 1, domain of unknown function (1); 0.000000 0.85682 D 0.000000 T 0.48537 0.1505 M 0.83312 2.635 0.80722 D 1 D;D 0.71674 0.998;0.997 D;D 0.75484 0.986;0.953 T 0.51942 -0.8641 10 0.72032 D 0.01 . 19.1532 0.93499 0.0:1.0:0.0:0.0 . 667;688 P21675;P21675-2 TAF1_HUMAN;. I 667;667;688;688 ENSP00000362895:T667I;ENSP00000389000:T667I;ENSP00000406549:T688I;ENSP00000276072:T688I ENSP00000276072:T688I T + 2 0 TAF1 70520592 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.299000 0.78831 2.474000 0.83562 0.600000 0.82982 ACA TAF1-008 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000058996.2 + ENST00000276072.3 Missense_Mutation SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 PRKACA 5566 broad.mit.edu 37 19 14208594 14208594 + Silent SNP G G A TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr19:14208594G>A ENST00000308677.4 - 6.0 724 c.528C>T c.(526-528)gaC>gaT p.D176D PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.D168D NM_002730.3 NP_002721.1 P17612 KAPCA_HUMAN protein kinase, cAMP-dependent, catalytic, alpha 176.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833) AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225) ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625) central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16.0 AGCCCTGCTGGTCAATGAGCA 0.612 0 73.0 71.0 72.0 19 14208594.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS12304.1, CCDS12305.1 19p13.1 2012-10-02 ENSG00000072062 5566.0 5566.0 2.7.11.1 9380.0 protein-coding gene gene with protein product 601639.0 8884279 Standard NM_002730 NM_002730 Approved PKACa uc002myc.3 P17612 ENST00000308677.4:c.528C>T 19.__UNKNOWN__:g.14208594G>A Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9 __UNKNOWN__ CCDS12304.1 PRKACA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459004.1 - ENST00000308677.4 Silent SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 COL4A5 1287 broad.mit.edu 37 X 107936078 107936078 + Silent SNP C C T TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chrX:107936078C>T ENST00000328300.6 + 50.0 4873 c.4629C>T c.(4627-4629)taC>taT p.Y1543Y COL4A5_ENST00000361603.2_Silent_p.Y1537Y NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 0.0 Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}. axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528) basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594) extracellular matrix structural constituent (GO:0005201) 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) 99.0 ACTATTCTTACTGGCTCTCTA 0.478 Alport syndrome with Diffuse Leiomyomatosis 0 117.0 96.0 103.0 X 107936078.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant Familial Cancer Database M90464 CCDS14543.1, CCDS35366.1 Xq22 2014-09-17 2008-07-28 ENSG00000188153 ENSG00000188153 1287.0 1287.0 """Collagens""" 2207.0 protein-coding gene gene with protein product 303630.0 """Alport syndrome""" ASLN, ATS Standard NM_000495 Approved uc004enz.2 P29400 OTTHUMG00000022182 ENST00000328300.6:c.4629C>T X.__UNKNOWN__:g.107936078C>T Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7 __UNKNOWN__ CCDS35366.1 COL4A5-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000360023.1 + ENST00000328300.6 Silent SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 RFX3 5991 broad.mit.edu 37 9 3263080 3263080 + Missense_Mutation SNP G G A TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr9:3263080G>A ENST00000382004.3 - 14.0 1771 c.1460C>T c.(1459-1461)gCc>gTc p.A487V RFX3_ENST00000302303.1_Missense_Mutation_p.A487V|RFX3_ENST00000358730.2_Missense_Mutation_p.A487V NM_001282116.1|NM_134428.1 NP_001269045.1|NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 487.0 cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560) nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40.0 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) ACTTACAGCGGCAACCTGTAA 0.448 0 119.0 103.0 108.0 9 3263080.0 2203.0 4300.0 6503.0 SO:0001583 missense AI811824 CCDS6449.1, CCDS6450.1, CCDS75809.1 9p24.2 2008-02-05 ENSG00000080298 ENSG00000080298 5991.0 5991.0 9984.0 protein-coding gene gene with protein product 601337.0 8289803 Standard NM_002919 XM_005251534 Approved uc003zhr.3 P48380 OTTHUMG00000019456 ENST00000382004.3:c.1460C>T 9.__UNKNOWN__:g.3263080G>A ENSP00000371434:p.Ala487Val A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6 __UNKNOWN__ CCDS6449.1 . . . . . . . . . . G 21.1 4.091911 0.76756 . . ENSG00000080298 ENST00000382004;ENST00000358730;ENST00000302303;ENST00000458034 T;T;T;T 0.46451 0.87;0.87;0.87;0.87 6.16 6.16 0.99307 . 0.104953 0.64402 D 0.000003 T 0.40015 0.1100 N 0.20685 0.6 0.80722 D 1 B;P 0.36789 0.014;0.57 B;B 0.43225 0.022;0.412 T 0.08006 -1.0743 10 0.33940 T 0.23 -13.7307 20.8598 0.99761 0.0:0.0:1.0:0.0 . 487;487 P48380-2;P48380 .;RFX3_HUMAN V 487;487;487;60 ENSP00000371434:A487V;ENSP00000351574:A487V;ENSP00000303847:A487V;ENSP00000400026:A60V ENSP00000303847:A487V A - 2 0 RFX3 3253080 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 8.017000 0.88712 2.937000 0.99478 0.650000 0.86243 GCC RFX3-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051545.1 - ENST00000382004.3 Missense_Mutation SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 Unknown 440482 bcgsc.ca 37 18 14214260 14214260 + RNA SNP G G A TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr18:14214260G>A RNU6-316P (23455 upstream) : RP11-757O6.1 (30363 downstream) AGGCGTGAAAGAAGTGAAAAG 0.328 0 SO:0001628 intergenic_variant 18.__UNKNOWN__:g.14214260G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 CHST1 8534 bcgsc.ca 37 11 45671609 45671609 + Missense_Mutation SNP G G A TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr11:45671609G>A ENST00000308064.2 - 4.0 1535 c.865C>T c.(865-867)Cgg>Tgg p.R289W NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 289.0 carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146) breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42.0 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) CACGGGGGCCGCATGAGGCCG 0.617 0 87.0 77.0 80.0 11 45671609.0 2203.0 4299.0 6502.0 SO:0001583 missense U65637 CCDS7913.1 11p11.2 2010-04-29 ENSG00000175264 ENSG00000175264 8534.0 8534.0 """Sulfotransferases, membrane-bound""" 1969.0 protein-coding gene gene with protein product 603797 9405439, 9639683 Standard NM_003654 NM_003654 Approved C6ST, KSGal6ST uc001mys.2 O43916 ENST00000308064.2:c.865C>T 11.__UNKNOWN__:g.45671609G>A ENSP00000309270:p.Arg289Trp D3DQP2 __UNKNOWN__ CCDS7913.1 . . . . . . . . . . G 19.41 3.821565 0.71028 . . ENSG00000175264 ENST00000308064 T 0.76316 -1.01 4.89 4.89 0.63831 Sulfotransferase domain (1); 0.062547 0.64402 D 0.000005 D 0.86422 0.5929 M 0.67953 2.075 0.58432 D 0.999998 D 0.89917 1.0 D 0.70935 0.971 D 0.85721 0.1325 10 0.37606 T 0.19 -19.3412 18.0436 0.89326 0.0:0.0:1.0:0.0 . 289 O43916 CHST1_HUMAN W 289 ENSP00000309270:R289W ENSP00000309270:R289W R - 1 2 CHST1 45628185 1.000000 0.71417 0.850000 0.33497 0.988000 0.76386 5.503000 0.66962 2.252000 0.74401 0.462000 0.41574 CGG CHST1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390127.1 - ENST00000308064.2 Missense_Mutation SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 MED15P1 0 bcgsc.ca 37 14 19500200 19500200 + RNA SNP G G T TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr14:19500200G>T ENST00000552968.1 - 0.0 488 mediator complex subunit 15 pseudogene 1 GCCGTGGATGGCAGTCATGGC 0.602 0 14q11.2 2013-06-03 2010-02-25 2010-02-25 ENSG00000257853 ENSG00000257853 326615.0 326615.0 19271.0 pseudogene pseudogene """PCQAP pseudogene"", ""mediator complex subunit 15 pseudogene""" PCQAPP, MED15P Standard NG_002605 NG_002605 Approved OTTHUMG00000170337 ENST00000552968.1: 14.__UNKNOWN__:g.19500200G>T __UNKNOWN__ MED15P1-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000408573.1 - ENST00000552968.1 RNA SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 COG7 91949 ucsc.edu 37 16 23430028 23430028 + Missense_Mutation SNP A A G TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr16:23430028A>G ENST00000307149.5 - 8.0 1315 c.1130T>C c.(1129-1131)gTg>gCg p.V377A NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 377.0 intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020) breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27.0 GBM - Glioblastoma multiforme(48;0.0401) TACCAGAGGCACAGCACTCAT 0.572 0 113.0 86.0 95.0 16 23430028.0 2197.0 4300.0 6497.0 SO:0001583 missense AF070568 CCDS10610.1 16p12.2 2008-02-05 ENSG00000168434 ENSG00000168434 91949.0 91949.0 """Components of oligomeric golgi complex""" 18622.0 protein-coding gene gene with protein product 606978 11980916 Standard NM_153603 Approved uc002dlo.3 P83436 OTTHUMG00000094807 ENST00000307149.5:c.1130T>C 16.__UNKNOWN__:g.23430028A>G ENSP00000305442:p.Val377Ala Q6UWU7 __UNKNOWN__ CCDS10610.1 . . . . . . . . . . A 15.41 2.826711 0.50739 . . ENSG00000168434 ENST00000307149 T 0.52295 0.67 5.73 5.73 0.89815 . 0.165224 0.53938 D 0.000059 T 0.43500 0.1250 L 0.46157 1.445 0.49798 D 0.99982 B 0.29671 0.254 B 0.32342 0.144 T 0.28106 -1.0054 10 0.22706 T 0.39 -14.745 15.1912 0.73047 1.0:0.0:0.0:0.0 . 377 P83436 COG7_HUMAN A 377 ENSP00000305442:V377A ENSP00000305442:V377A V - 2 0 COG7 23337529 1.000000 0.71417 0.946000 0.38457 0.299000 0.27559 9.290000 0.96065 2.185000 0.69588 0.533000 0.62120 GTG COG7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000211625.1 - ENST00000307149.5 Missense_Mutation SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 EFHC1 114327 ucsc.edu 37 6 52344564 52344564 + Missense_Mutation SNP C C T TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr6:52344564C>T ENST00000371068.5 + 9.0 1722 c.1619C>T c.(1618-1620)gCg>gTg p.A540V EFHC1_ENST00000538167.1_Missense_Mutation_p.A521V|EFHC1_ENST00000433625.2_Missense_Mutation_p.A449V NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 540.0 axoneme (GO:0005930)|neuronal cell body (GO:0043025) calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022) breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27.0 Lung NSC(77;0.109) AAGCGAGAAGCGCCTGCTCCA 0.443 0 97.0 80.0 85.0 6 52344564.0 2203.0 4300.0 6503.0 SO:0001583 missense AK001328 CCDS4942.1, CCDS55021.1 6p12.3 2014-02-04 ENSG00000096093 ENSG00000096093 114327.0 114327.0 """EF-hand domain containing""" 16406.0 protein-coding gene gene with protein product """myoclonin-1""" 608815 """epilepsy, juvenile myoclonic 1""" EJM1, EJM 15258581 Standard NM_018100 NM_018100 Approved FLJ10466 uc003pap.4 Q5JVL4 OTTHUMG00000014848 ENST00000371068.5:c.1619C>T 6.__UNKNOWN__:g.52344564C>T ENSP00000360107:p.Ala540Val B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6 __UNKNOWN__ CCDS4942.1 . . . . . . . . . . C 11.18 1.563452 0.27915 . . ENSG00000096093 ENST00000371068;ENST00000433625;ENST00000538167 T;T;T 0.68181 -0.07;-0.31;-0.28 5.43 -1.36 0.09085 . 1.688590 0.03054 N 0.154993 T 0.20981 0.0505 N 0.14661 0.345 0.09310 N 1 B;B;B 0.10296 0.002;0.003;0.003 B;B;B 0.06405 0.002;0.001;0.002 T 0.03739 -1.1008 10 0.30078 T 0.28 -0.0114 1.6005 0.02673 0.2541:0.3471:0.248:0.1508 . 521;449;540 F5GZD8;B7Z2S4;Q5JVL4 .;.;EFHC1_HUMAN V 540;449;521 ENSP00000360107:A540V;ENSP00000416492:A449V;ENSP00000444521:A521V ENSP00000360107:A540V A + 2 0 EFHC1 52452523 0.000000 0.05858 0.000000 0.03702 0.010000 0.07245 -0.408000 0.07169 -0.263000 0.09378 0.555000 0.69702 GCG EFHC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040905.2 + ENST00000371068.5 Missense_Mutation SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 MED13 9969 ucsc.edu 37 17 60045615 60045615 + Silent SNP A A G TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr17:60045615A>G ENST00000397786.2 - 18.0 4048 c.3972T>C c.(3970-3972)acT>acC p.T1324T NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1324.0 androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367) mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809) 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) 88.0 GGGATTCATCAGTTCCTAAAT 0.323 0 54.0 50.0 51.0 17 60045615.0 1821.0 4070.0 5891.0 SO:0001819 synonymous_variant AB011165 CCDS42366.1 17q22-q23 2007-07-30 2007-07-30 2007-07-30 ENSG00000108510 9969.0 9969.0 22474.0 protein-coding gene gene with protein product 603808 """thyroid hormone receptor associated protein 1""" THRAP1 1019863 Standard NM_005121 NM_005121 Approved KIAA0593, TRAP240 uc002izo.3 Q9UHV7 ENST00000397786.2:c.3972T>C 17.__UNKNOWN__:g.60045615A>G B2RU05|O60334 __UNKNOWN__ CCDS42366.1 MED13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000445461.1 - ENST00000397786.2 Silent SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 OTX1 5013 ucsc.edu 37 2 63282747 63282747 + Missense_Mutation SNP T T C TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr2:63282747T>C ENST00000282549.2 + 5.0 637 c.361T>C c.(361-363)Tcc>Ccc p.S121P OTX1_ENST00000366671.3_Missense_Mutation_p.S121P NM_014562.3 NP_055377.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 121.0 anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20.0 Lung NSC(7;0.121)|all_lung(7;0.211) GAGCTCGGGCTCCGAAAGCAG 0.672 0 38.0 40.0 39.0 2 63282747.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS1873.1 2p15 2011-06-20 2007-02-15 ENSG00000115507 ENSG00000115507 5013.0 5013.0 """Homeoboxes / PRD class""" 8521.0 protein-coding gene gene with protein product 600036 """orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)""" 7959790 Standard NM_001199770 Approved uc002scd.3 P32242 OTTHUMG00000129454 ENST00000282549.2:c.361T>C 2.__UNKNOWN__:g.63282747T>C ENSP00000282549:p.Ser121Pro A6NHA2|B3KTJ4|Q53TG6 __UNKNOWN__ CCDS1873.1 . . . . . . . . . . T 16.84 3.233342 0.58886 . . ENSG00000115507 ENST00000366671;ENST00000282549 D;D 0.90504 -2.68;-2.68 3.89 2.67 0.31697 . 0.000000 0.64402 D 0.000001 D 0.90082 0.6902 L 0.35542 1.07 0.58432 D 0.999998 D 0.65815 0.995 D 0.70487 0.969 D 0.85743 0.1338 10 0.25106 T 0.35 . 8.7779 0.34774 0.1693:0.0:0.0:0.8307 . 121 P32242 OTX1_HUMAN P 121 ENSP00000355631:S121P;ENSP00000282549:S121P ENSP00000282549:S121P S + 1 0 OTX1 63136251 1.000000 0.71417 0.612000 0.29024 0.998000 0.95712 6.023000 0.70848 0.620000 0.30215 0.460000 0.39030 TCC OTX1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251617.1 + ENST00000282549.2 Missense_Mutation SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 PTPRK 5796 ucsc.edu 37 6 128312441 128312441 + Missense_Mutation SNP G G A TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr6:128312441G>A ENST00000368213.5 - 21.0 3219 c.2995C>T c.(2995-2997)Cgg>Tgg p.R999W PTPRK_ENST00000368207.3_Missense_Mutation_p.R1025W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1015W|PTPRK_ENST00000368226.4_Missense_Mutation_p.R993W|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1011W|PTPRK_ENST00000368215.3_Missense_Mutation_p.R992W|PTPRK_ENST00000368227.3_Missense_Mutation_p.R1010W NM_001135648.1 NP_001129120.1 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 992.0 Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}. cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179) axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750) beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) 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) 72.0 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CCTCTTACCCGGCCAACCTCA 0.348 0 87.0 83.0 85.0 6 128312441.0 2203.0 4300.0 6503.0 SO:0001583 missense L77886 CCDS5137.1, CCDS47473.1, CCDS75517.1 6q22.2-q22.3 2013-02-11 ENSG00000152894 ENSG00000152894 5796.0 5796.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 9674.0 protein-coding gene gene with protein product 602545 9047348, 8663237 Standard NM_002844 Approved R-PTP-kappa uc010kfc.3 Q15262 OTTHUMG00000015536 ENST00000368213.5:c.2995C>T 6.__UNKNOWN__:g.128312441G>A ENSP00000357196:p.Arg999Trp B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11 __UNKNOWN__ CCDS47473.1 . . . . . . . . . . G 19.31 3.802149 0.70682 . . ENSG00000152894 ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000415055 D;D;D;D;D;D;D;D 0.85013 -1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93 6.07 4.2 0.49525 Protein-tyrosine phosphatase, receptor/non-receptor type (3); 0.000000 0.85682 D 0.000000 D 0.94305 0.8170 H 0.97540 4.025 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.87578 0.998;0.996;0.993;0.988 D 0.96240 0.9175 10 0.87932 D 0 . 14.5837 0.68310 0.0:0.0:0.595:0.405 . 1015;999;992;993 B7ZMG0;Q15262-3;Q15262;Q15262-2 .;.;PTPRK_HUMAN;. W 993;1010;1015;999;1011;992;1025;252 ENSP00000357209:R993W;ENSP00000357210:R1010W;ENSP00000432973:R1015W;ENSP00000357196:R999W;ENSP00000357193:R1011W;ENSP00000357198:R992W;ENSP00000357190:R1025W;ENSP00000408180:R252W ENSP00000357190:R1025W R - 1 2 PTPRK 128354134 0.998000 0.40836 1.000000 0.80357 0.967000 0.64934 1.368000 0.34216 1.575000 0.49775 -0.158000 0.13435 CGG PTPRK-019 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000390044.2 - ENST00000368213.5 Missense_Mutation SNP PCPG-TCGA-QR-A70D-Normal-SM-5EQF9 HUWE1 10075 broad.mit.edu 37 X 53588818 53588818 + Missense_Mutation SNP T T C TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chrX:53588818T>C ENST00000342160.3 - 54.0 7863 c.7406A>G c.(7405-7407)gAg>gGg p.E2469G HUWE1_ENST00000262854.6_Missense_Mutation_p.E2469G Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2469.0 Asp-rich.|Glu-rich. base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634) DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842) 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) 153.0 AGGATAATCCTCATCCAATTC 0.468 0 175.0 130.0 145.0 X 53588818.0 2203.0 4300.0 6503.0 SO:0001583 missense AB071605 CCDS35301.1 Xp11.22 2014-06-09 2012-02-23 ENSG00000086758 ENSG00000086758 10075.0 10075.0 30892.0 protein-coding gene gene with protein product 300697.0 """HECT, UBA and WWE domain containing 1""" 9205841, 10998601 Standard XM_497119 NM_031407 Approved Ib772, KIAA0312, UREB1 uc004dsp.4 Q7Z6Z7 OTTHUMG00000021617 ENST00000342160.3:c.7406A>G X.__UNKNOWN__:g.53588818T>C ENSP00000340648:p.Glu2469Gly O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9 __UNKNOWN__ CCDS35301.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 12.22|12.22 1.872221|1.872221 0.33069|0.33069 .|. .|. ENSG00000086758|ENSG00000086758 ENST00000342160;ENST00000262854|ENST00000427052 T;T|. 0.54071|. 0.59;0.59|. 5.4|5.4 5.4|5.4 0.78164|0.78164 .|. 0.180655|. 0.38663|. N|. 0.001609|. T|. 0.42017|. 0.1184|. N|N 0.14661|0.14661 0.345|0.345 0.58432|0.58432 D|D 0.999993|0.999993 D;D|. 0.61080|. 0.981;0.989|. D;D|. 0.70487|. 0.932;0.969|. T|. 0.33727|. -0.9857|. 10|. 0.66056|. D|. 0.02|. .|. 13.3489|13.3489 0.60591|0.60591 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. 2469;2469|. Q7Z6Z7;Q7Z6Z7-2|. HUWE1_HUMAN;.|. G|W 2469|1502 ENSP00000340648:E2469G;ENSP00000262854:E2469G|. ENSP00000262854:E2469G|. E|X -|- 2|3 0|0 HUWE1|HUWE1 53605543|53605543 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.996000|0.996000 0.88848|0.88848 7.328000|7.328000 0.79160|0.79160 1.794000|1.794000 0.52575|0.52575 0.412000|0.412000 0.27726|0.27726 GAG|TGA HUWE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056766.1 - ENST00000342160.3 Missense_Mutation SNP PCPG-TCGA-QR-A70E-Normal-SM-5EQFV TYW1 55253 broad.mit.edu 37 7 66479413 66479413 + Silent SNP T T C rs145686658 by1000genomes TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr7:66479413T>C ENST00000359626.5 + 5.0 599 c.435T>C c.(433-435)acT>acC p.T145T NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 145.0 Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}. tRNA processing (GO:0008033) cytoplasm (GO:0005737)|nucleus (GO:0005634) 4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491) p.T145T(1) breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46.0 Lung NSC(55;0.0846)|all_lung(88;0.183) GCCTACCAACTGAAAGTGCAG 0.428 1 Substitution - coding silent(1) urinary_tract(1) SO:0001819 synonymous_variant AK001762 CCDS5538.1 7q11.21 2007-11-29 2007-11-29 2007-11-29 ENSG00000198874 ENSG00000198874 55253.0 55253.0 25598.0 protein-coding gene gene with protein product """tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)""" 611243.0 """radical S-adenosyl methionine and flavodoxin domains 1""" RSAFD1 16162496, 17150819 Standard NM_018264 NM_018264 Approved FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A uc003tvn.4 Q9NV66 OTTHUMG00000129723 ENST00000359626.5:c.435T>C 7.__UNKNOWN__:g.66479413T>C Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4 __UNKNOWN__ CCDS5538.1 TYW1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251932.2 + ENST00000359626.5 Silent SNP PCPG-TCGA-QR-A70E-Normal-SM-5EQFV PRICKLE3 4007 broad.mit.edu 37 X 49034506 49034506 + Missense_Mutation SNP G G A rs148273554 TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chrX:49034506G>A ENST00000376317.3 - 7.0 885 c.791C>T c.(790-792)aCg>aTg p.T264M PRICKLE3_ENST00000540849.1_Missense_Mutation_p.T196M|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.T183M|PRICKLE3_ENST00000538114.1_Splice_Site_p.T251M NM_006150.3 NP_006141.2 O43900 PRIC3_HUMAN prickle homolog 3 (Drosophila) 264.0 LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}. zinc ion binding (GO:0008270) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2) 22.0 CTCAGCCTCCGTGCACTCAGG 0.632 0 G MET/THR 0,3835 0,0,0,1632,571 37.0 32.0 34.0 791 3.8 1.0 X dbSNP_134 34.0 2,6726 0,1,1,2427,1871 yes missense PRICKLE3 NM_006150.3 81 0,1,1,4059,2442 AA,AG,A,GG,G 0.0297,0.0,0.0189 probably-damaging 264/616 49034506.0 2,10561 2203.0 4300.0 6503.0 SO:0001583 missense BC016856 CCDS14320.1 Xp11.23 2008-02-05 2007-09-18 2007-09-18 ENSG00000012211 ENSG00000012211 4007.0 4007.0 6645.0 protein-coding gene gene with protein product 300111.0 """LIM domain only 6""" LMO6 9344658 Standard NM_006150 XM_005272605 Approved uc004dmy.1 O43900 OTTHUMG00000024134 ENST00000376317.3:c.791C>T X.__UNKNOWN__:g.49034506G>A ENSP00000365494:p.Thr264Met B7Z8F2|O76007|Q53XR5 __UNKNOWN__ CCDS14320.1 . . . . . . . . . . G 18.01 3.527864 0.64860 0.0 2.97E-4 ENSG00000012211 ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114 D;D;D;T 0.88354 -2.37;-2.37;-2.37;-0.78 4.67 3.78 0.43462 Zinc finger, LIM-type (5); 0.000000 0.39341 N 0.001387 D 0.92873 0.7733 M 0.75884 2.315 0.58432 D 0.999999 D;D;D;D 0.89917 0.999;0.999;1.0;0.996 D;D;D;D 0.81914 0.981;0.97;0.995;0.91 D 0.92957 0.6385 10 0.87932 D 0 0.0076 9.9126 0.41415 0.1064:0.0:0.8936:0.0 . 264;226;183;264 B2RBS3;B7Z6S4;B7Z8F2;O43900 .;.;.;PRIC3_HUMAN M 264;183;196;251 ENSP00000365494:T264M;ENSP00000441385:T183M;ENSP00000446051:T196M;ENSP00000441743:T251M ENSP00000365494:T264M T - 2 0 PRICKLE3 48921450 1.000000 0.71417 0.972000 0.41901 0.862000 0.49288 7.618000 0.83043 2.138000 0.66242 0.416000 0.27883 ACG PRICKLE3-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000060811.1 - ENST00000376317.3 Missense_Mutation SNP PCPG-TCGA-QR-A70E-Normal-SM-5EQFV RXRB 6257 broad.mit.edu 37 6 33163151 33163151 + Missense_Mutation SNP A A G TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr6:33163151A>G ENST00000374685.4 - 8.0 1486 c.1349T>C c.(1348-1350)cTg>cCg p.L450P RXRB_ENST00000374680.3_Missense_Mutation_p.L446P|RXRB_ENST00000544186.1_Missense_Mutation_p.L260P P28702 RXRB_HUMAN retinoid X receptor, beta 446.0 Ligand-binding. {ECO:0000250}. cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012) nucleoplasm (GO:0005654)|nucleus (GO:0005634) 9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15.0 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755) TGGATTAAACAGAATGATTGC 0.527 0 128.0 123.0 125.0 6 33163151.0 1510.0 2709.0 4219.0 SO:0001583 missense M84820 CCDS4768.1, CCDS59007.1 6p21.3 2013-01-16 ENSG00000204231 ENSG00000204231 6257.0 6257.0 """Nuclear hormone receptors""" 10478.0 protein-coding gene gene with protein product """nuclear receptor subfamily 2 group B member 2""" 180246.0 8257090 Standard NM_021976 NM_021976 Approved NR2B2, H-2RIIBP, RCoR-1 uc003odc.4 P28702 OTTHUMG00000031298 ENST00000374685.4:c.1349T>C 6.__UNKNOWN__:g.33163151A>G ENSP00000363817:p.Leu450Pro P28703|Q59G65|Q5JP92|Q5STQ1 __UNKNOWN__ CCDS59007.1 . . . . . . . . . . A 17.35 3.366725 0.61513 . . ENSG00000204231 ENST00000374685;ENST00000374680;ENST00000544186 D;D;D 0.82167 -1.58;-1.58;-1.58 5.12 5.12 0.69794 Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2); 0.000000 0.64402 D 0.000001 D 0.94231 0.8148 H 0.99336 4.52 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 1.0;1.0;1.0;1.0 D 0.96035 0.9020 10 0.87932 D 0 . 12.9206 0.58230 1.0:0.0:0.0:0.0 . 260;446;490;446 E9PK95;Q5STP9;Q59G65;P28702 .;.;.;RXRB_HUMAN P 450;446;260 ENSP00000363817:L450P;ENSP00000363812:L446P;ENSP00000439222:L260P ENSP00000363812:L446P L - 2 0 RXRB 33271129 1.000000 0.71417 1.000000 0.80357 0.981000 0.71138 8.752000 0.91632 2.139000 0.66308 0.523000 0.50628 CTG RXRB-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000076644.2 - ENST00000374685.4 Missense_Mutation SNP PCPG-TCGA-QR-A70E-Normal-SM-5EQFV MKI67 4288 broad.mit.edu 37 10 129913862 129913862 + Silent SNP G G A TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr10:129913862G>A ENST00000368654.3 - 7.0 1185 c.810C>T c.(808-810)taC>taT p.Y270Y MKI67_ENST00000368653.3_Intron NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 270.0 cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070) chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022) 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) 159.0 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) TCTCTGTTGCGTAATCAGTTT 0.428 G 1.0 0.0005 2184.0 1.0 , , 0.0003 0.0013 0.0005 1.0 EXOME 0.0011 SNP 0 85.0 88.0 87.0 10 129913862.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X65550 CCDS7659.1, CCDS53588.1 10q26.2 2014-06-12 2013-10-10 ENSG00000148773 ENSG00000148773 4288.0 4288.0 7107.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 105""" 176741.0 """antigen identified by monoclonal antibody Ki-67""" 2571566, 16206250 Standard NM_002417 NM_002417 Approved MIB-, PPP1R105 uc001lke.3 P46013 OTTHUMG00000019255 ENST00000368654.3:c.810C>T 10.__UNKNOWN__:g.129913862G>A Q5VWH2 __UNKNOWN__ CCDS7659.1 MKI67-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000050999.1 - ENST00000368654.3 Silent SNP PCPG-TCGA-QR-A70E-Normal-SM-5EQFV ME3 10873 broad.mit.edu 37 11 86382833 86382833 + Missense_Mutation SNP C C T TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr11:86382833C>T ENST00000393324.3 - 1.0 407 c.154G>A c.(154-156)Gat>Aat p.D52N ME3_ENST00000359636.2_Missense_Mutation_p.D52N|ME3_ENST00000543262.1_Missense_Mutation_p.D52N NM_001014811.1 NP_001014811.1 Q16798 MAON_HUMAN malic enzyme 3, NADP(+)-dependent, mitochondrial 52.0 aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090) mitochondrion (GO:0005739) cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948) endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1) 27.0 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) CTGGTGACATCGTATCCGCGC 0.701 0 49.0 47.0 48.0 11 86382833.0 2202.0 4299.0 6501.0 SO:0001583 missense X79440 CCDS8277.1 11q14.2 2012-09-20 ENSG00000151376 ENSG00000151376 10873.0 10873.0 1.1.1.40 6985.0 protein-coding gene gene with protein product 604626.0 7818469 Standard NM_001161586 Approved uc001pbz.3 Q16798 OTTHUMG00000167217 ENST00000393324.3:c.154G>A 11.__UNKNOWN__:g.86382833C>T ENSP00000376998:p.Asp52Asn B7Z6V0|Q8TBJ0 __UNKNOWN__ CCDS8277.1 . . . . . . . . . . C 35 5.421899 0.96111 . . ENSG00000151376 ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826;ENST00000530335;ENST00000532471;ENST00000526834;ENST00000526944 T;T;T;T;T;T;T;T 0.56275 2.44;2.44;2.44;2.44;2.44;0.47;0.47;0.47 5.16 5.16 0.70880 . 0.101483 0.64402 N 0.000004 T 0.46073 0.1374 L 0.39245 1.2 0.80722 D 1 B 0.32010 0.351 B 0.35655 0.207 T 0.36261 -0.9755 9 . . . . 14.2024 0.65712 0.0:1.0:0.0:0.0 . 52 Q16798 MAON_HUMAN N 52 ENSP00000352657:D52N;ENSP00000440246:D52N;ENSP00000376998:D52N;ENSP00000431182:D52N;ENSP00000434690:D52N;ENSP00000435427:D52N;ENSP00000437204:D52N;ENSP00000434431:D52N . D - 1 0 ME3 86060481 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 4.300000 0.59079 2.408000 0.81797 0.555000 0.69702 GAT ME3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393767.2 - ENST00000393324.3 Missense_Mutation SNP PCPG-TCGA-QR-A70E-Normal-SM-5EQFV SLC22A12 116085 broad.mit.edu 37 11 64359373 64359373 + Silent SNP G G A TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr11:64359373G>A ENST00000377567.2 + 2.0 809 c.345G>A c.(343-345)ccG>ccA p.P115P SLC22A12_ENST00000377574.1_Silent_p.P115P|SLC22A12_ENST00000377572.1_Silent_p.P115P|SLC22A12_ENST00000336464.7_Silent_p.P115P|SLC22A12_ENST00000473690.1_5'UTR Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 115.0 cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27.0 Losartan(DB00678)|Probenecid(DB01032) ACACGGAGCCGTGTGTGGATG 0.662 0 32.0 35.0 34.0 11 64359373.0 2201.0 4297.0 6498.0 SO:0001819 synonymous_variant AB071863 CCDS8075.1, CCDS60835.1, CCDS60836.1 11q13.1 2013-05-22 2008-01-11 ENSG00000197891 ENSG00000197891 116085.0 116085.0 """Solute carriers""" 17989.0 protein-coding gene gene with protein product 607096.0 """solute carrier family 22 (organic anion/cation transporter), member 12""" 12024214 Standard NM_144585 NM_144585 Approved OAT4L, RST, URAT1 uc009yps.2 Q96S37 OTTHUMG00000045213 ENST00000377567.2:c.345G>A 11.__UNKNOWN__:g.64359373G>A B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2 __UNKNOWN__ SLC22A12-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000141957.2 + ENST00000377567.2 Silent SNP PCPG-TCGA-QR-A70E-Normal-SM-5EQFV LAMA3 3909 broad.mit.edu 37 18 21474265 21474265 + Missense_Mutation SNP G G A TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr18:21474265G>A ENST00000313654.9 + 43.0 5655 c.5414G>A c.(5413-5415)tGc>tAc p.C1805Y LAMA3_ENST00000399516.3_Missense_Mutation_p.C1805Y|LAMA3_ENST00000587184.1_Missense_Mutation_p.C196Y|LAMA3_ENST00000269217.6_Missense_Mutation_p.C196Y NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1805.0 Domain III A.|Laminin EGF-like 15; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}. cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610) structural molecule activity (GO:0005198) 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) 128.0 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) ATTTTAGACTGCATAAACCAA 0.373 0 93.0 91.0 92.0 18 21474265.0 2203.0 4300.0 6503.0 SO:0001583 missense L34155 CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1 18q11.2 2013-03-01 2002-08-29 ENSG00000053747 ENSG00000053747 3909.0 3909.0 """Laminins""" 6483.0 protein-coding gene gene with protein product 600805.0 """laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)""" LAMNA 8077230 Standard NM_000227, NM_198129 NM_000227 Approved nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin uc002kuq.3 Q16787 OTTHUMG00000131874 ENST00000313654.9:c.5414G>A 18.__UNKNOWN__:g.21474265G>A ENSP00000324532:p.Cys1805Tyr B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0 __UNKNOWN__ CCDS42419.1 . . . . . . . . . . G 19.21 3.783142 0.70222 . . ENSG00000053747 ENST00000313654;ENST00000399516;ENST00000269217 T;T;T 0.57595 0.39;0.81;2.16 5.63 5.63 0.86233 . . . . . T 0.71459 0.3342 M 0.72894 2.215 0.80722 D 1 D;D;D;D 0.76494 0.989;0.991;0.999;0.992 P;P;D;P 0.68192 0.768;0.822;0.956;0.907 T 0.73531 -0.3953 9 0.87932 D 0 . 16.9486 0.86237 0.0:0.0:1.0:0.0 . 196;196;1805;1805 Q6VU69;B0YJ33;Q6VU67;Q16787 .;.;.;LAMA3_HUMAN Y 1805;1805;196 ENSP00000324532:C1805Y;ENSP00000382432:C1805Y;ENSP00000269217:C196Y ENSP00000269217:C196Y C + 2 0 LAMA3 19728263 1.000000 0.71417 0.999000 0.59377 0.848000 0.48234 5.405000 0.66351 2.797000 0.96272 0.655000 0.94253 TGC LAMA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254824.3 + ENST00000313654.9 Missense_Mutation SNP PCPG-TCGA-QR-A70E-Normal-SM-5EQFV NKG2-E 3822 broad.mit.edu 37 12 10587970 10587970 + Missense_Mutation SNP A A T TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr12:10587970A>T ENST00000539033.1 - 2.0 241 c.227T>A c.(226-228)cTa>cAa p.L76Q KLRC2_ENST00000536833.2_Missense_Mutation_p.L17Q|KLRC2_ENST00000381902.2_Missense_Mutation_p.L76Q|KLRC2_ENST00000381901.1_Missense_Mutation_p.L76Q AATGATTCCTAGGACCTCGGC 0.423 0 183.0 204.0 197.0 12 10587970.0 2202.0 4298.0 6500.0 SO:0001583 missense ENST00000539033.1:c.227T>A 12.__UNKNOWN__:g.10587970A>T ENSP00000437563:p.Leu76Gln __UNKNOWN__ . . . . . . . . . . A 14.29 2.490623 0.44249 . . ENSG00000255641;ENSG00000205809;ENSG00000205809;ENSG00000205809 ENST00000539033;ENST00000381902;ENST00000381901;ENST00000536833 T;T;T;T 0.10573 2.86;2.86;2.86;2.86 2.99 2.99 0.34606 C-type lectin fold (1); 0.000000 0.40144 N 0.001178 T 0.38161 0.1030 M 0.94021 3.485 0.32719 N 0.510577 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 0.999;1.0;1.0 T 0.57021 -0.7882 10 0.87932 D 0 . 8.1179 0.30955 1.0:0.0:0.0:0.0 . 62;76;76 Q3KQS7;P26717;F5H6K3 .;NKG2C_HUMAN;. Q 76;76;76;17 ENSP00000437563:L76Q;ENSP00000371327:L76Q;ENSP00000371326:L76Q;ENSP00000444754:L17Q ENSP00000371326:L76Q L - 2 0 KLRC2;RP11-277P12.6 10479237 0.824000 0.29247 0.083000 0.20561 0.009000 0.06853 3.090000 0.50191 1.341000 0.45600 0.414000 0.27820 CTA NKG2-E-001 KNOWN basic|appris_principal|readthrough_transcript protein_coding protein_coding OTTHUMT00000400274.1 - ENST00000539033.1 Missense_Mutation SNP PCPG-TCGA-QR-A70E-Normal-SM-5EQFV TMC7 79905 broad.mit.edu 37 16 19063129 19063129 + Missense_Mutation SNP G G A TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr16:19063129G>A ENST00000304381.5 + 13.0 1992 c.1862G>A c.(1861-1863)aGc>aAc p.S621N TMC7_ENST00000421369.3_Missense_Mutation_p.S511N|TMC7_ENST00000569532.1_Missense_Mutation_p.S621N NM_024847.3 NP_079123.3 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 621.0 ion transport (GO:0006811) integral component of membrane (GO:0016021) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28.0 CTGACAATCAGCATATCACGG 0.403 0 245.0 230.0 235.0 16 19063129.0 2197.0 4300.0 6497.0 SO:0001583 missense AY263165 CCDS10573.1, CCDS53992.1, CCDS73837.1 16p13.11 2008-02-05 ENSG00000170537 ENSG00000170537 79905.0 79905.0 23000.0 protein-coding gene gene with protein product 12812529, 12906855 Standard NM_024847 XM_005255597 Approved FLJ21240 uc002dfq.3 Q7Z402 OTTHUMG00000131456 ENST00000304381.5:c.1862G>A 16.__UNKNOWN__:g.19063129G>A ENSP00000304710:p.Ser621Asn E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766 __UNKNOWN__ CCDS10573.1 . . . . . . . . . . G 28.7 4.938721 0.92526 . . ENSG00000170537 ENST00000304381;ENST00000421369 T;T 0.72835 -0.61;-0.69 5.62 5.62 0.85841 . 0.000000 0.85682 D 0.000000 T 0.76976 0.4063 M 0.80422 2.495 0.50039 D 0.999843 P;B 0.38420 0.63;0.431 B;B 0.40602 0.334;0.254 T 0.78909 -0.2018 10 0.52906 T 0.07 . 19.6767 0.95936 0.0:0.0:1.0:0.0 . 621;621 Q7Z402;B3KSZ3 TMC7_HUMAN;. N 621;511 ENSP00000304710:S621N;ENSP00000397081:S511N ENSP00000304710:S621N S + 2 0 TMC7 18970630 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 8.738000 0.91569 2.634000 0.89283 0.655000 0.94253 AGC TMC7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254276.3 + ENST00000304381.5 Missense_Mutation SNP PCPG-TCGA-QR-A70E-Normal-SM-5EQFV SYNE2 23224 broad.mit.edu 37 14 64450466 64450466 + Silent SNP G G A TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr14:64450466G>A ENST00000554584.1 + 17.0 2064 c.2013G>A c.(2011-2013)ctG>ctA p.L671L SYNE2_ENST00000344113.4_Silent_p.L671L|SYNE2_ENST00000358025.3_Silent_p.L671L|SYNE2_ENST00000357395.3_5'UTR Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 671.0 centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504) aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018) actin binding (GO:0003779) 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) 224.0 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAATGAACCTGCCACTGATGA 0.284 0 G , 0,3590 0,0,1795 39.0 37.0 38.0 2013,2013 -3.2 0.0 14 38.0 1,8119 0,1,4059 no coding-synonymous,coding-synonymous SYNE2 NM_015180.4,NM_182914.2 , 0,1,5854 AA,AG,GG 0.0123,0.0,0.0085 , 671/6886,671/6908 64450466.0 1,11709 1795.0 4060.0 5855.0 SO:0001819 synonymous_variant AB023228 CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1 14q22.1-q22.3 2014-09-17 ENSG00000054654 ENSG00000054654 23224.0 23224.0 17084.0 protein-coding gene gene with protein product """nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element""" 608442.0 10231032, 10878022 Standard NM_182914 NM_182910 Approved SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2 uc001xgl.3 Q8WXH0 OTTHUMG00000140349 ENST00000554584.1:c.2013G>A 14.__UNKNOWN__:g.64450466G>A Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1 __UNKNOWN__ SYNE2-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000411905.1 + ENST00000554584.1 Silent SNP PCPG-TCGA-QR-A70E-Normal-SM-5EQFV TEX10 54881 broad.mit.edu 37 9 103109543 103109543 + Missense_Mutation SNP T T A TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr9:103109543T>A ENST00000374902.4 - 3.0 502 c.326A>T c.(325-327)gAt>gTt p.D109V TEX10_ENST00000537512.1_Missense_Mutation_p.D44V|TEX10_ENST00000535814.1_Missense_Mutation_p.D112V NM_017746.3 NP_060216.2 Q9NXF1 TEX10_HUMAN testis expressed 10 109.0 cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339) NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 38.0 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) AGCATCTTTATCTGTAAACAC 0.368 0 145.0 152.0 150.0 9 103109543.0 2203.0 4300.0 6503.0 SO:0001583 missense AB060968 CCDS6748.1, CCDS55330.1 9q31.1 2012-05-02 2007-03-13 ENSG00000136891 ENSG00000136891 54881.0 54881.0 25988.0 protein-coding gene gene with protein product """testis expressed gene 10"", ""testis expressed sequence 10""" 12477932 Standard NM_017746 NM_017746 Approved FLJ20287, bA208F1.2, Ipi1 uc004bas.3 Q9NXF1 OTTHUMG00000020366 ENST00000374902.4:c.326A>T 9.__UNKNOWN__:g.103109543T>A ENSP00000364037:p.Asp109Val B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0 __UNKNOWN__ CCDS6748.1 . . . . . . . . . . T 18.99 3.740337 0.69304 . . ENSG00000136891 ENST00000535814;ENST00000374902;ENST00000537512 T;T;T 0.70631 -0.5;-0.5;-0.5 5.54 5.54 0.83059 Armadillo-like helical (1);Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 D 0.88112 0.6349 M 0.93808 3.46 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;0.999;1.0 D 0.91252 0.5030 10 0.87932 D 0 -11.3728 15.6679 0.77247 0.0:0.0:0.0:1.0 . 44;112;109 B7Z9D5;B4DYV2;Q9NXF1 .;.;TEX10_HUMAN V 112;109;44 ENSP00000444555:D112V;ENSP00000364037:D109V;ENSP00000438120:D44V ENSP00000364037:D109V D - 2 0 TEX10 102149364 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 8.040000 0.89188 2.092000 0.63282 0.482000 0.46254 GAT TEX10-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053416.1 - ENST00000374902.4 Missense_Mutation SNP PCPG-TCGA-QR-A70E-Normal-SM-5EQFV VPRBP 9730 broad.mit.edu 37 3 51455620 51455620 + Missense_Mutation SNP C C A TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr3:51455620C>A ENST00000335891.5 - 9.0 2130 c.2121G>T c.(2119-2121)tgG>tgT p.W707C Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 1156.0 B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244) 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) 41.0 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) AAGGCTGGCTCCAAGTAGCAG 0.423 0 57.0 54.0 55.0 3 51455620.0 1920.0 4126.0 6046.0 SO:0001583 missense AB018343 CCDS74943.1, CCDS74944.1 3p21.2 2011-06-17 ENSG00000145041 ENSG00000145041 9730.0 9730.0 """DDB1 and CUL4 associated factors""" 30911.0 protein-coding gene gene with protein product """DDB1 and CUL4 associated factor 1""" 8195203, 11223251 Standard NM_014703 NM_014703 Approved KIAA0800, MGC102804, DCAF1 uc003dbe.2 Q9Y4B6 OTTHUMG00000156895 ENST00000335891.5:c.2121G>T 3.__UNKNOWN__:g.51455620C>A ENSP00000338857:p.Trp707Cys Q2YD74|Q8TBD9|Q9HCA1|Q9UG37 __UNKNOWN__ . . . . . . . . . . C 24.5 4.535880 0.85812 . . ENSG00000145041 ENST00000423656;ENST00000335891 T;T 0.57595 0.39;0.39 6.17 6.17 0.99709 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1); 0.000000 0.85682 D 0.000000 T 0.69278 0.3093 L 0.47016 1.485 0.80722 D 1 D 0.76494 0.999 D 0.79784 0.993 T 0.65940 -0.6046 10 0.52906 T 0.07 -10.0922 20.8794 0.99867 0.0:1.0:0.0:0.0 . 1156 Q9Y4B6 VPRBP_HUMAN C 727;707 ENSP00000393183:W727C;ENSP00000338857:W707C ENSP00000338857:W707C W - 3 0 VPRBP 51430660 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.398000 0.79919 2.941000 0.99782 0.655000 0.94253 TGG VPRBP-201 KNOWN basic|appris_principal protein_coding protein_coding - ENST00000335891.5 Missense_Mutation SNP PCPG-TCGA-QR-A70E-Normal-SM-5EQFV RSRC2 65117 broad.mit.edu 37 12 122999719 122999724 + In_Frame_Del DEL TCCGGC TCCGGC - TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr12:122999719_122999724delTCCGGC ENST00000331738.7 - 6.0 798_803 c.653_658delGCCGGA c.(652-660)agccggact>act p.SR218del RSRC2_ENST00000354654.2_In_Frame_Del_p.SR170del NM_023012.5 NP_075388.2 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 218.0 poly(A) RNA binding (GO:0044822) p.S218S(1) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24.0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) GGACTTGGAGTCCGGCTTAAACTTCT 0.383 1 Substitution - coding silent(1) large_intestine(1) SO:0001651 inframe_deletion AF161432 CCDS31920.1 12q24.31 2007-02-13 ENSG00000111011 ENSG00000111011 65117.0 65117.0 30559.0 protein-coding gene gene with protein product 17203224 Standard NM_023012 NM_023012 Approved FLJ11021 uc001ucr.3 Q7L4I2 OTTHUMG00000167572 ENST00000331738.7:c.653_658delGCCGGA 12.__UNKNOWN__:g.122999719_122999724delTCCGGC ENSP00000330188:p.Ser218_Arg219del Q6N040|Q6NW16|Q9H864 __UNKNOWN__ CCDS31920.1 RSRC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395096.3 - ENST00000331738.7 In_Frame_Del DEL PCPG-TCGA-QR-A70E-Normal-SM-5EQFV GDF10 2662 ucsc.edu 37 10 48428883 48428883 + Missense_Mutation SNP G G T TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr10:48428883G>T ENST00000224605.2 - 2.0 1268 c.1003C>A c.(1003-1005)Cca>Aca p.P335T NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 335.0 fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179) extracellular space (GO:0005615) growth factor activity (GO:0008083) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31.0 TTGCGCCCTGGCCGGGGTTTC 0.672 0 37.0 36.0 36.0 10 48428883.0 2203.0 4300.0 6503.0 SO:0001583 missense L42113 CCDS73117.1 10q11.22 2014-04-10 ENSG00000107623 ENSG00000266524 2662.0 2662.0 """Endogenous ligands""" 4215.0 protein-coding gene gene with protein product 601361 8679252 Standard NM_004962 NM_004962 Approved BMP-3b uc001jfb.3 P55107 OTTHUMG00000188319 ENST00000224605.2:c.1003C>A 10.__UNKNOWN__:g.48428883G>T ENSP00000224605:p.Pro335Thr Q5VSQ8|Q9UCX6 __UNKNOWN__ CCDS7220.1 . . . . . . . . . . G 8.120 0.780673 0.16120 . . ENSG00000107623 ENST00000374247;ENST00000224605 T 0.74842 -0.88 5.3 -0.977 0.10282 . 0.551962 0.20862 N 0.084325 T 0.56062 0.1960 L 0.35644 1.08 0.09310 N 1 B;B 0.06786 0.0;0.001 B;B 0.04013 0.0;0.001 T 0.36792 -0.9733 10 0.32370 T 0.25 . 4.8261 0.13417 0.1289:0.5615:0.1722:0.1374 . 145;335 Q8N6T2;P55107 .;BMP3B_HUMAN T 145;335 ENSP00000224605:P335T ENSP00000224605:P335T P - 1 0 GDF10 48048889 0.423000 0.25482 0.007000 0.13788 0.822000 0.46500 0.227000 0.17795 -0.001000 0.14495 0.561000 0.74099 CCA GDF10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047884.1 - ENST00000224605.2 Missense_Mutation SNP PCPG-TCGA-QR-A70E-Normal-SM-5EQFV IRF1 3659 ucsc.edu 37 5 131825099 131825099 + Silent SNP G G A TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr5:131825099G>A ENST00000245414.4 - 2.0 330 c.72C>T c.(70-72)ctC>ctT p.L24L IRF1_ENST00000405885.2_Silent_p.L24L|IRF1_ENST00000463784.1_Intron NM_002198.2 NP_002189.1 P10914 IRF1_HUMAN interferon regulatory factor 1 24.0 apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11.0 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) TAATCCAGATGAGCCCCGGGA 0.473 0 101.0 102.0 101.0 5 131825099.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS4155.1 5q23-q31 2008-07-18 ENSG00000125347 ENSG00000125347 3659.0 3659.0 6116.0 protein-coding gene gene with protein product """interferon regulatory factor-1""" 147575 2726461, 1680796 Standard NM_002198 NM_002198 Approved MAR uc003kxa.2 P10914 OTTHUMG00000059497 ENST00000245414.4:c.72C>T 5.__UNKNOWN__:g.131825099G>A Q96GG7 __UNKNOWN__ CCDS4155.1 IRF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000132340.1 - ENST00000245414.4 Silent SNP PCPG-TCGA-QR-A70E-Normal-SM-5EQFV PDZRN4 29951 ucsc.edu 37 12 41966431 41966431 + Missense_Mutation SNP T T A TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr12:41966431T>A ENST00000402685.2 + 10.0 1858 c.1850T>A c.(1849-1851)aTt>aAt p.I617N PDZRN4_ENST00000298919.7_Missense_Mutation_p.I357N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.I359N NM_001164595.1 NP_001158067.1 Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 617.0 ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) 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) 77.0 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TCAGACTGCATTGGCAACCCA 0.473 0 87.0 87.0 87.0 12 41966431.0 2203.0 4300.0 6503.0 SO:0001583 missense AK094690 CCDS8739.1, CCDS53777.1 12q12 2008-08-14 2008-08-14 ENSG00000165966 29951.0 29951.0 """RING-type (C3HC4) zinc fingers""" 30552.0 protein-coding gene gene with protein product """similar to semaF cytoplasmic domain associated protein 3""" 609730 11230166, 15010864 Standard NM_013377 NM_013377 Approved DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589 uc010skn.2 Q6ZMN7 ENST00000402685.2:c.1850T>A 12.__UNKNOWN__:g.41966431T>A ENSP00000384197:p.Ile617Asn Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7 __UNKNOWN__ CCDS53777.1 . . . . . . . . . . T 1.773 -0.483899 0.04383 . . ENSG00000165966 ENST00000402685;ENST00000539469;ENST00000298919 T;T;T 0.72282 -0.64;3.8;3.8 4.08 -6.74 0.01743 . 1.547480 0.04225 N 0.334178 T 0.59169 0.2174 L 0.34521 1.04 0.09310 N 1 P;B;B 0.34462 0.454;0.03;0.004 B;B;B 0.26416 0.069;0.062;0.038 T 0.54384 -0.8302 10 0.62326 D 0.03 2.7839 17.7752 0.88505 0.0:0.1025:0.0:0.8975 . 617;357;359 Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2 PZRN4_HUMAN;.;. N 617;359;357 ENSP00000384197:I617N;ENSP00000439990:I359N;ENSP00000298919:I357N ENSP00000298919:I357N I + 2 0 PDZRN4 40252698 0.000000 0.05858 0.001000 0.08648 0.539000 0.34962 -0.153000 0.10144 -1.548000 0.01712 -0.248000 0.11899 ATT PDZRN4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403701.1 + ENST00000402685.2 Missense_Mutation SNP PCPG-TCGA-QR-A70E-Normal-SM-5EQFV KRTAP4-11 653240 hgsc.bcm.edu 37 17 39274424 39274424 + Missense_Mutation SNP G G C TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr17:39274424G>C ENST00000391413.2 - 1.0 182 c.144C>G c.(142-144)agC>agG p.S48R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 48.0 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}. keratin filament (GO:0045095) p.S48R(2) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33.0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCCTGCAGCAGCTGGACACAC 0.672 2 Substitution - Missense(2) lung(1)|endometrium(1) 11.0 16.0 14.0 17 39274424.0 687.0 1589.0 2276.0 SO:0001583 missense AC025904 CCDS45675.1 17q21.2 2013-06-25 ENSG00000212721 ENSG00000212721 653240.0 653240.0 """Keratin associated proteins""" 18911.0 protein-coding gene gene with protein product """keratin associated protein 4-14""" KRTAP4-14 Standard NM_033059 Approved KAP4.11, KAP4.14 uc002hvz.3 Q9BYQ6 OTTHUMG00000133586 ENST00000391413.2:c.144C>G 17.__UNKNOWN__:g.39274424G>C ENSP00000375232:p.Ser48Arg A0AUY2 __UNKNOWN__ CCDS45675.1 . . . . . . . . . . . 13.52 2.262143 0.39995 . . ENSG00000212721 ENST00000391413 T 0.01963 4.53 3.91 3.91 0.45181 . 0.663392 0.11138 N 0.595595 T 0.06826 0.0174 M 0.91717 3.235 0.27842 N 0.941075 B 0.21606 0.058 B 0.25614 0.062 T 0.08310 -1.0728 10 0.66056 D 0.02 . 7.305 0.26443 0.1194:0.0:0.8806:0.0 . 48 Q9BYQ6 KR411_HUMAN R 48 ENSP00000375232:S48R ENSP00000375232:S48R S - 3 2 KRTAP4-11 36527950 0.739000 0.28196 0.990000 0.47175 0.119000 0.20118 0.787000 0.26858 2.015000 0.59207 0.609000 0.83330 AGC KRTAP4-11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257690.1 - ENST00000391413.2 Missense_Mutation SNP PCPG-TCGA-QR-A70E-Normal-SM-5EQFV PER2 8864 broad.mit.edu 37 2 239186523 239186523 + Missense_Mutation SNP C C A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr2:239186523C>A ENST00000254657.3 - 2.0 334 c.55G>T c.(55-57)Gtg>Ttg p.V19L PER2_ENST00000355768.2_Missense_Mutation_p.V19L|PER2_ENST00000440245.1_Missense_Mutation_p.V19L|PER2_ENST00000254658.3_Missense_Mutation_p.V19L NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 19.0 circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872) cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130) 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) 37.0 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) TGGGGCTCCACGGGCTCCTTG 0.612 0 47.0 49.0 48.0 2 239186523.0 2203.0 4300.0 6503.0 SO:0001583 missense AB002345 CCDS2528.1 2q37.3 2012-12-13 2012-12-13 ENSG00000132326 ENSG00000132326 8864.0 8864.0 8846.0 protein-coding gene gene with protein product 603426.0 """period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)""" 9427249, 17218255 Standard NM_022817 NM_022817 Approved KIAA0347 uc002vyc.3 O15055 OTTHUMG00000152884 ENST00000254657.3:c.55G>T 2.__UNKNOWN__:g.239186523C>A ENSP00000254657:p.Val19Leu A2I2P7|Q4ZG49|Q6DT41|Q9UQ45 __UNKNOWN__ CCDS2528.1 . . . . . . . . . . C 0.493 -0.874511 0.02550 . . ENSG00000132326 ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768;ENST00000431832 T;T;T;T;T 0.43294 2.9;0.95;1.98;0.95;0.95 4.86 -9.73 0.00512 . 1.410840 0.04426 N 0.368353 T 0.24812 0.0602 L 0.36672 1.1 0.09310 N 1 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.06405 0.002;0.0;0.001;0.0 T 0.20338 -1.0278 10 0.07813 T 0.8 0.1016 9.4303 0.38606 0.0:0.3399:0.4303:0.2298 . 19;19;19;19 F5GYD5;B4DH14;O15055-2;O15055 .;.;.;PER2_HUMAN L 19 ENSP00000254657:V19L;ENSP00000254658:V19L;ENSP00000397516:V19L;ENSP00000348013:V19L;ENSP00000405891:V19L ENSP00000254657:V19L V - 1 0 PER2 238851262 0.000000 0.05858 0.000000 0.03702 0.005000 0.04900 -0.949000 0.03893 -1.959000 0.01018 -1.391000 0.01154 GTG PER2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257167.1 - ENST00000254657.3 Missense_Mutation SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO TTN 7273 broad.mit.edu 37 2 179596174 179596174 + Silent SNP G G A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr2:179596174G>A ENST00000589042.1 - 59.0 17543 c.17319C>T c.(17317-17319)gaC>gaT p.D5773D TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.D4529D|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.D5456D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5456.0 Ig-like 38. adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) 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) 1448.0 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTATATTATCGTCTTCAGTGA 0.483 0 114.0 108.0 110.0 2 179596174.0 1928.0 4141.0 6069.0 SO:0001819 synonymous_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273.0 7273.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403.0 protein-coding gene gene with protein product 188840.0 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_133378 NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.17319C>T 2.__UNKNOWN__:g.179596174G>A A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 __UNKNOWN__ CCDS59435.1 TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 - ENST00000589042.1 Silent SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO GLTSCR1L 23506 broad.mit.edu 37 6 42832767 42832767 + Silent SNP G G T TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr6:42832767G>T ENST00000314073.5 + 13.0 2999 c.2823G>T c.(2821-2823)cgG>cgT p.R941R GLTSCR1L_ENST00000394168.1_Silent_p.R941R Q6AI39 GSC1L_HUMAN GLTSCR1-like 941.0 AGGGGCACCGGAAAACCTCAT 0.547 0 62.0 63.0 63.0 6 42832767.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AL833540 CCDS34451.1 6p21.1 2012-11-29 2012-11-29 2012-11-29 ENSG00000112624 ENSG00000112624 23506.0 23506.0 21111.0 protein-coding gene gene with protein product """KIAA0240""" KIAA0240 Standard NM_015349 XM_005248972 Approved uc003osp.1 Q6AI39 OTTHUMG00000014706 ENST00000314073.5:c.2823G>T 6.__UNKNOWN__:g.42832767G>T A1L3W2|Q5TFZ3|Q92514 __UNKNOWN__ CCDS34451.1 GLTSCR1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040562.3 + ENST00000314073.5 Silent SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO KCNH5 27133 broad.mit.edu 37 14 63174996 63174996 + Nonsense_Mutation SNP G G A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr14:63174996G>A ENST00000322893.7 - 11.0 2465 c.2197C>T c.(2197-2199)Caa>Taa p.Q733* KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 733.0 potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268) cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886) phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99.0 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ACCTGGAGTTGGTTCCTCTCA 0.557 0 112.0 102.0 105.0 14 63174996.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained U69185 CCDS9756.1, CCDS45122.1 14q23.1 2012-07-05 ENSG00000140015 ENSG00000140015 27133.0 27133.0 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels""" 6254.0 protein-coding gene gene with protein product 605716.0 9738473, 16382104 Standard NM_139318 NM_139318 Approved Kv10.2, H-EAG2, eag2 uc001xfx.3 Q8NCM2 OTTHUMG00000029041 ENST00000322893.7:c.2197C>T 14.__UNKNOWN__:g.63174996G>A ENSP00000321427:p.Gln733* C9JP98 __UNKNOWN__ CCDS9756.1 . . . . . . . . . . G 23.7 4.443040 0.83993 . . ENSG00000140015 ENST00000322893 . . . 5.52 4.58 0.56647 . 0.171112 0.41500 D 0.000869 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.06236 T 0.91 . 11.6405 0.51230 0.0:0.1332:0.7289:0.1379 . . . . X 733 . ENSP00000321427:Q733X Q - 1 0 KCNH5 62244749 1.000000 0.71417 1.000000 0.80357 0.066000 0.16364 3.188000 0.50958 2.611000 0.88343 0.655000 0.94253 CAA KCNH5-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000411747.1 - ENST00000322893.7 Nonsense_Mutation SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO MUC5B 727897 broad.mit.edu 37 11 1272055 1272055 + Missense_Mutation SNP G G A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr11:1272055G>A ENST00000529681.1 + 31.0 14003 c.13945G>A c.(13945-13947)Gcc>Acc p.A4649T MUC5B_ENST00000447027.1_Missense_Mutation_p.A4652T NM_002458.2 NP_002449.2 Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4649.0 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) p.A4649T(1)|p.A4604T(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137.0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) cacccacaccgccagagtgct 0.612 2 Substitution - Missense(2) endometrium(2) C THR/ALA 1,4241 0,1,2120 123.0 151.0 141.0 13945 -0.8 0.0 11 141.0 0,8448 0,0,4224 no missense MUC5B NM_002458.2 58 0,1,6344 AA,AG,GG 0.0,0.0236,0.0079 4649/5763 1272055.0 1,12689 2121.0 4224.0 6345.0 SO:0001583 missense U95031, AF086604 CCDS44515.1, CCDS44515.2 11p15.5 2007-01-19 2006-03-14 ENSG00000117983 727897.0 727897.0 """Mucins""" 7516.0 protein-coding gene gene with protein product 600770.0 """mucin 5, subtype B, tracheobronchial""" MUC5 9804771 Standard XM_001126093 NM_002458 Approved MG1 uc001lta.3 Q9HC84 ENST00000529681.1:c.13945G>A 11.__UNKNOWN__:g.1272055G>A ENSP00000436812:p.Ala4649Thr O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28 __UNKNOWN__ CCDS44515.2 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. -|- 3.668|3.668 -0.068133|-0.068133 0.07228|0.07228 2.36E-4|2.36E-4 0.0|0.0 ENSG00000117983|ENSG00000117983 ENST00000529681;ENST00000447027;ENST00000349637|ENST00000535652 T;T|. 0.15834|. 2.39;2.57|. 0.976|0.976 -0.754|-0.754 0.11065|0.11065 .|. .|. .|. .|. .|. T|T 0.11623|0.11623 0.0283|0.0283 N|N 0.03608|0.03608 -0.345|-0.345 0.09310|0.09310 N|N 1|1 B|. 0.25235|. 0.121|. B|. 0.12156|. 0.007|. T|T 0.18366|0.18366 -1.0339|-1.0339 9|6 0.87932|0.45353 D|T 0|0.12 .|. 4.0397|4.0397 0.09745|0.09745 0.0:0.3403:0.4612:0.1985|0.0:0.3403:0.4612:0.1985 .|. 4652|. E9PBJ0|. .|. T|H 4649;4652;4593|423 ENSP00000436812:A4649T;ENSP00000415793:A4652T|. ENSP00000343037:A4593T|ENSP00000439776:R423H A|R +|+ 1|2 0|0 MUC5B|MUC5B 1228631|1228631 0.000000|0.000000 0.05858|0.05858 0.002000|0.002000 0.10522|0.10522 0.014000|0.014000 0.08584|0.08584 -5.897000|-5.897000 0.00092|0.00092 -1.423000|-1.423000 0.02002|0.02002 -1.123000|-1.123000 0.02005|0.02005 GCC|CGC MUC5B-002 NOVEL basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000390041.2 + ENST00000529681.1 Missense_Mutation SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO GABRA2 2555 broad.mit.edu 37 4 46252463 46252463 + Missense_Mutation SNP T T G TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr4:46252463T>G ENST00000507069.1 - 10.0 1404 c.1398A>C c.(1396-1398)gaA>gaC p.E466D GABRA2_ENST00000540012.1_Missense_Mutation_p.E411D|GABRA2_ENST00000356504.1_Missense_Mutation_p.E406D|GABRA2_ENST00000381620.4_Missense_Mutation_p.E406D|GABRA2_ENST00000510861.1_Missense_Mutation_p.E406D|GABRA2_ENST00000514090.1_Missense_Mutation_p.E406D P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 406.0 gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56.0 Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198) TTTTCTTTGCTTCAGCTGGCT 0.403 0 204.0 207.0 206.0 4 46252463.0 2203.0 4299.0 6502.0 SO:0001583 missense CCDS3471.1 4p12 2012-06-22 ENSG00000151834 ENSG00000151834 2555.0 2555.0 """GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors""" 4076.0 protein-coding gene gene with protein product """GABA(A) receptor, alpha 2""" 137140.0 Standard NM_000807 Approved uc010igc.2 P47869 OTTHUMG00000044266 ENST00000507069.1:c.1398A>C 4.__UNKNOWN__:g.46252463T>G ENSP00000427603:p.Glu466Asp A8K0U7|B7Z1H8|Q59G14 __UNKNOWN__ . . . . . . . . . . T 11.92 1.781779 0.31502 . . ENSG00000151834 ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069 D;D;D;D;D;D 0.86097 -2.07;-2.07;-2.07;-2.07;-2.07;-2.07 5.96 3.58 0.41010 Neurotransmitter-gated ion-channel transmembrane domain (2); 0.043351 0.85682 D 0.000000 T 0.75199 0.3817 L 0.33093 0.98 0.39836 D 0.973041 B;B 0.22480 0.04;0.07 B;B 0.25140 0.039;0.058 T 0.67719 -0.5598 10 0.27082 T 0.32 . 7.5695 0.27898 0.0:0.2263:0.0:0.7737 . 411;406 B7Z1H8;P47869 .;GBRA2_HUMAN D 406;406;406;406;411;466 ENSP00000421828:E406D;ENSP00000421300:E406D;ENSP00000371033:E406D;ENSP00000348897:E406D;ENSP00000444409:E411D;ENSP00000427603:E466D ENSP00000348897:E406D E - 3 2 GABRA2 45947220 0.995000 0.38212 1.000000 0.80357 0.932000 0.56968 0.289000 0.18957 1.085000 0.41206 0.533000 0.62120 GAA GABRA2-013 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000363658.1 - ENST00000507069.1 Missense_Mutation SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO FNDC7 163479 broad.mit.edu 37 1 109270464 109270464 + Missense_Mutation SNP G G T rs142706173 byFrequency TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr1:109270464G>T ENST00000370017.3 + 7.0 1423 c.1146G>T c.(1144-1146)ttG>ttT p.L382F FNDC7_ENST00000271311.2_Missense_Mutation_p.L383F NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 382.0 Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}. extracellular region (GO:0005576) breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20.0 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) ACCCCGTGTTGGTGTCCAGTG 0.522 0 298.0 262.0 274.0 1 109270464.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS44185.1 1p13.3 2013-02-11 ENSG00000143107 ENSG00000143107 163479.0 163479.0 """Fibronectin type III domain containing""" 26668.0 protein-coding gene gene with protein product 12477932 Standard NM_173532 NM_001144937 Approved FLJ35838 uc001dvx.3 Q5VTL7 OTTHUMG00000011120 ENST00000370017.3:c.1146G>T 1.__UNKNOWN__:g.109270464G>T ENSP00000359034:p.Leu382Phe A1L468|E9PAZ5|Q6PF16|Q8NA51 __UNKNOWN__ CCDS44185.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 10.92|10.92 1.486085|1.486085 0.26686|0.26686 .|. .|. ENSG00000143107|ENSG00000143107 ENST00000445274|ENST00000370017;ENST00000271311 .|T;T .|0.47869 .|0.83;0.83 5.73|5.73 0.683|0.683 0.17998|0.17998 .|Fibronectin, type III (3);Immunoglobulin-like fold (1); .|0.682071 .|0.15384 .|N .|0.265157 T|T 0.06600|0.06600 0.0169|0.0169 N|N 0.12182|0.12182 0.205|0.205 0.28422|0.28422 N|N 0.917692|0.917692 .|B;B .|0.11235 .|0.003;0.004 .|B;B .|0.12156 .|0.007;0.005 T|T 0.30475|0.30475 -0.9977|-0.9977 5|10 .|0.09338 .|T .|0.73 -2.791|-2.791 1.6266|1.6266 0.02724|0.02724 0.1545:0.2324:0.3493:0.2639|0.1545:0.2324:0.3493:0.2639 .|. .|383;382 .|Q5VTL7;E9PAZ5 .|FNDC7_HUMAN;. C|F 158|382;383 .|ENSP00000359034:L382F;ENSP00000271311:L383F .|ENSP00000271311:L383F G|L +|+ 1|3 0|2 FNDC7|FNDC7 109071987|109071987 0.798000|0.798000 0.28890|0.28890 0.999000|0.999000 0.59377|0.59377 0.980000|0.980000 0.70556|0.70556 0.171000|0.171000 0.16685|0.16685 0.364000|0.364000 0.24374|0.24374 0.561000|0.561000 0.74099|0.74099 GGT|TTG FNDC7-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000030589.4 + ENST00000370017.3 Missense_Mutation SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO STRN4 29888 broad.mit.edu 37 19 47228840 47228840 + Silent SNP G G A rs148663953 byFrequency TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr19:47228840G>A ENST00000391910.3 - 10.0 1785 c.1335C>T c.(1333-1335)taC>taT p.Y445Y STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Silent_p.Y438Y|STRN4_ENST00000539396.1_Silent_p.Y319Y Q9NRL3 STRN4_HUMAN striatin, calmodulin binding protein 4 438.0 cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020) armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721) NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17.0 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) GAATGCCGTCGTAGTGCGAGC 0.607 G 1.0 0.0005 2184.0 0.9999 , , 0.0003 0.0013 0.0005 0.9049 EXOME 0.0006 SNP 0 G , 1,4405 2.1+/-5.4 0,1,2202 100.0 99.0 99.0 1335,1314 -1.0 1.0 19 dbSNP_134 99.0 7,8593 5.7+/-21.5 0,7,4293 no coding-synonymous,coding-synonymous STRN4 NM_001039877.1,NM_013403.2 , 0,8,6495 AA,AG,GG 0.0814,0.0227,0.0615 , 445/761,438/754 47228840.0 8,12998 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF212940 CCDS12690.1, CCDS42581.1 19q13.32 2013-01-10 ENSG00000090372 ENSG00000090372 29888.0 29888.0 """WD repeat domain containing""" 15721.0 protein-coding gene gene with protein product 614767.0 10748158 Standard XM_006723171 Approved zinedin, ZIN uc002pfm.3 Q9NRL3 ENST00000391910.3:c.1335C>T 19.__UNKNOWN__:g.47228840G>A A0A024R0V2|B4DQH7|F8VYA6|Q8NE53 __UNKNOWN__ CCDS42581.1 STRN4-002 KNOWN NMD_exception|not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000466606.2 - ENST00000391910.3 Silent SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO DNAH3 55567 broad.mit.edu 37 16 21098274 21098274 + Missense_Mutation SNP G G C TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr16:21098274G>C ENST00000261383.3 - 19.0 2772 c.2773C>G c.(2773-2775)Cgc>Ggc p.R925G DNAH3_ENST00000415178.1_Missense_Mutation_p.R925G NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 925.0 Stem. {ECO:0000250}. cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|microtubule motor activity (GO:0003777) 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) 202.0 GBM - Glioblastoma multiforme(48;0.207) TCTGCTAAGCGCCTGGGTGCA 0.463 0 253.0 229.0 237.0 16 21098274.0 2201.0 4300.0 6501.0 SO:0001583 missense U83574 CCDS10594.1 16p12.2 2008-08-01 2006-09-04 ENSG00000158486 ENSG00000158486 55567.0 55567.0 """Axonemal dyneins""" 2949.0 protein-coding gene gene with protein product 603334.0 """dynein, axonemal, heavy polypeptide 3""" 9256245, 9373155 Standard NM_017539 NM_017539 Approved Dnahc3b, DLP3, Hsadhc3, DKFZp434N074 uc010vbe.2 Q8TD57 OTTHUMG00000090677 ENST00000261383.3:c.2773C>G 16.__UNKNOWN__:g.21098274G>C ENSP00000261383:p.Arg925Gly O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35 __UNKNOWN__ CCDS10594.1 . . . . . . . . . . G 18.66 3.672397 0.67928 . . ENSG00000158486 ENST00000261383;ENST00000415178 T;T 0.61274 0.12;0.12 5.58 5.58 0.84498 Dynein heavy chain, domain-2 (1); 0.178143 0.38605 N 0.001635 T 0.63153 0.2487 L 0.52266 1.64 0.80722 D 1 P 0.49783 0.928 P 0.51385 0.668 T 0.55692 -0.8101 10 0.17369 T 0.5 . 19.5697 0.95407 0.0:0.0:1.0:0.0 . 925 Q8TD57 DYH3_HUMAN G 925 ENSP00000261383:R925G;ENSP00000394245:R925G ENSP00000261383:R925G R - 1 0 DNAH3 21005775 1.000000 0.71417 0.954000 0.39281 0.953000 0.61014 5.925000 0.70062 2.631000 0.89168 0.655000 0.94253 CGC DNAH3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207361.1 - ENST00000261383.3 Missense_Mutation SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO PIKFYVE 200576 broad.mit.edu 37 2 209150561 209150561 + Missense_Mutation SNP C C T TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr2:209150561C>T ENST00000392202.3 + 4.0 592 c.434C>T c.(433-435)tCt>tTt p.S145F PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S242F|PIKFYVE_ENST00000264380.4_Missense_Mutation_p.S242F|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.S156F NM_152671.3 NP_689884.1 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 242.0 cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281) cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506) 1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270) 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) 107.0 TCTGCTTGCTCTGTGTCTGTG 0.428 0 149.0 146.0 147.0 2 209150561.0 2203.0 4300.0 6503.0 SO:0001583 missense AB023198 CCDS2382.1, CCDS33368.1, CCDS54431.1 2q34 2014-01-15 2009-04-17 2009-04-17 ENSG00000115020 ENSG00000115020 200576.0 200576.0 """Zinc fingers, FYVE domain containing""" 23785.0 protein-coding gene gene with protein product """zinc finger, FYVE domain containing 29""" 609414.0 """phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III""" PIP5K3 9858586, 12270933 Standard NM_015040 NM_015040 Approved MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1 uc002vcz.3 Q9Y2I7 OTTHUMG00000132945 ENST00000392202.3:c.434C>T 2.__UNKNOWN__:g.209150561C>T ENSP00000376038:p.Ser145Phe Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67 __UNKNOWN__ CCDS33368.1 . . . . . . . . . . C 17.52 3.409595 0.62399 . . ENSG00000115020 ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000452564 T;T;T 0.67698 1.44;-0.28;1.59 5.92 5.92 0.95590 . 0.000000 0.85682 D 0.000000 T 0.66157 0.2761 L 0.29908 0.895 0.58432 D 0.999997 P;P;D;B;D 0.54207 0.895;0.877;0.965;0.38;0.965 P;P;P;B;P 0.51135 0.548;0.467;0.66;0.191;0.66 T 0.68142 -0.5487 10 0.59425 D 0.04 -19.4426 16.5534 0.84478 0.0:0.8697:0.1303:0.0 . 242;242;156;242;145 Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2 FYV1_HUMAN;.;.;.;. F 145;242;242;156;242 ENSP00000264380:S242F;ENSP00000384356:S242F;ENSP00000405736:S242F ENSP00000264380:S242F S + 2 0 PIKFYVE 208858806 1.000000 0.71417 0.827000 0.32855 0.864000 0.49448 3.998000 0.57024 2.809000 0.96659 0.655000 0.94253 TCT PIKFYVE-002 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000319310.1 + ENST00000392202.3 Missense_Mutation SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO NCR1 9437 broad.mit.edu 37 19 55421398 55421398 + Missense_Mutation SNP C C T TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr19:55421398C>T ENST00000291890.4 + 5.0 693 c.655C>T c.(655-657)Ctt>Ttt p.L219F NCR1_ENST00000594765.1_Missense_Mutation_p.L219F|NCR1_ENST00000357397.5_Missense_Mutation_p.L112F|NCR1_ENST00000447255.1_Missense_Mutation_p.L219F|NCR1_ENST00000338835.5_Missense_Mutation_p.L219F|NCR1_ENST00000598576.1_Missense_Mutation_p.L207F|NCR1_ENST00000350790.5_Missense_Mutation_p.L124F NM_004829.5 NP_004820.2 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 219.0 cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514) receptor signaling protein activity (GO:0005057) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18.0 GBM - Glioblastoma multiforme(193;0.0449) GAACACCAGCCTTGCACCTGA 0.433 0 188.0 190.0 190.0 19 55421398.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ001383 CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1 19q13.42 2013-09-20 2002-11-13 2002-11-15 ENSG00000189430 ENSG00000189430 9437.0 9437.0 """CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 6731.0 protein-coding gene gene with protein product 604530.0 """lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)""" LY94 9730896 Standard NM_001145457 Approved NK-p46, NKP46, CD335 uc002qib.2 O76036 OTTHUMG00000183212 ENST00000291890.4:c.655C>T 19.__UNKNOWN__:g.55421398C>T ENSP00000291890:p.Leu219Phe B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018 __UNKNOWN__ CCDS12911.1 . . . . . . . . . . C 5.213 0.224786 0.09916 . . ENSG00000189430 ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397 T;T;T;T;T 0.00587 6.82;6.77;6.84;6.61;6.38 3.1 -4.38 0.03622 . 7.553560 0.00166 N 0.000005 T 0.00666 0.0022 L 0.31926 0.97 0.09310 N 1 B;B;B;B;B;B 0.22746 0.069;0.035;0.009;0.074;0.009;0.032 B;B;B;B;B;B 0.27076 0.031;0.013;0.008;0.02;0.067;0.076 T 0.45512 -0.9256 10 0.45353 T 0.12 . 9.0201 0.36195 0.0:0.3298:0.0:0.6702 . 112;124;219;124;219;219 O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036 .;.;.;.;.;NCTR1_HUMAN F 219;219;219;124;112 ENSP00000291890:L219F;ENSP00000404434:L219F;ENSP00000339515:L219F;ENSP00000344358:L124F;ENSP00000349972:L112F ENSP00000291890:L219F L + 1 0 NCR1 60113210 0.000000 0.05858 0.000000 0.03702 0.011000 0.07611 -0.187000 0.09656 -0.903000 0.03881 -0.496000 0.04628 CTT NCR1-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000465680.1 + ENST00000291890.4 Missense_Mutation SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO PTPN3 0 broad.mit.edu 37 9 112182720 112182720 + Silent SNP G G T TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr9:112182720G>T ENST00000374541.2 - 14.0 1401 c.1297C>A c.(1297-1299)Cga>Aga p.R433R PTPN3_ENST00000446349.1_Silent_p.R257R|PTPN3_ENST00000412145.1_Silent_p.R302R|PTPN3_ENST00000262539.3_Silent_p.R279R NM_001145368.1|NM_002829.3 NP_001138840.1|NP_002820.3 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 433.0 negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649) cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856) ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080) 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) 41.0 TGCGGGCTTCGGTTCTGAGAA 0.453 0 88.0 82.0 84.0 9 112182720.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS6776.1, CCDS48000.1, CCDS48001.1 9q31 2011-06-09 ENSG00000070159 ENSG00000070159 5774.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor""" 9655.0 protein-coding gene gene with protein product 176877.0 1648725 Standard NM_002829 Approved PTPH1 uc004bed.2 P26045 OTTHUMG00000020475 ENST00000374541.2:c.1297C>A 9.__UNKNOWN__:g.112182720G>T A0AUW9|E7EN99|E9PGU7 __UNKNOWN__ CCDS6776.1 PTPN3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053598.4 - ENST00000374541.2 Silent SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO CCDC88C 440193 broad.mit.edu 37 14 91875056 91875056 + Missense_Mutation SNP G G A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr14:91875056G>A ENST00000554165.1 - 0.0 204 CCDC88C_ENST00000389857.6_Missense_Mutation_p.L73F|CCDC88C_ENST00000553403.1_Missense_Mutation_p.L73F|CCDC88C_ENST00000389856.5_Missense_Mutation_p.L65F Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055) PDZ domain binding (GO:0030165)|protein self-association (GO:0043621) central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24.0 all_cancers(154;0.0468) TGAATGCGAAGGTTCACATCA 0.458 0 172.0 178.0 176.0 14 91875056.0 2027.0 4176.0 6203.0 SO:0001623 5_prime_UTR_variant CCDS45151.1 14q32.12 2014-07-30 2007-05-31 2007-05-31 ENSG00000015133 440193.0 440193.0 19967.0 protein-coding gene gene with protein product """Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40""" 611204.0 """KIAA1509""" KIAA1509 17185515, 25062847 Standard XM_029353 NM_001080414 Approved DAPLE, HkRP2, SCA40 uc010aty.3 Q9P219 ENST00000554165.1:c.-216C>T 14.__UNKNOWN__:g.91875056G>A Q69YK1|Q7L1M2|Q86SX7|Q8IYG8 __UNKNOWN__ . . . . . . . . . . G 17.32 3.360854 0.61403 . . ENSG00000015133 ENST00000389857;ENST00000541408;ENST00000389856;ENST00000553403 T;T;T 0.50001 1.55;0.76;0.76 5.02 5.02 0.67125 . 0.000000 0.32015 U 0.006711 T 0.71350 0.3329 M 0.80183 2.485 0.80722 D 1 D;D 0.76494 0.999;0.999 D;D 0.77557 0.99;0.948 T 0.75811 -0.3186 10 0.72032 D 0.01 -11.4815 18.2924 0.90135 0.0:0.0:1.0:0.0 . 73;73 Q9P219;G3V3S0 DAPLE_HUMAN;. F 73;37;65;73 ENSP00000374507:L73F;ENSP00000374506:L65F;ENSP00000451392:L73F ENSP00000374506:L65F L - 1 0 CCDC88C 90944809 1.000000 0.71417 0.997000 0.53966 0.105000 0.19272 8.022000 0.88759 2.501000 0.84356 0.650000 0.86243 CTT CCDC88C-007 PUTATIVE basic|exp_conf processed_transcript protein_coding OTTHUMT00000411660.1 - ENST00000554165.1 5'UTR SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO MMP14 4323 broad.mit.edu 37 14 23311796 23311796 + Missense_Mutation SNP T T A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr14:23311796T>A ENST00000311852.6 + 4.0 819 c.558T>A c.(556-558)caT>caA p.H186Q MMP14_ENST00000548162.1_3'UTR NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 186.0 angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638) extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20.0 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) Marimastat(DB00786) AGGGCTTCCATGGCGACAGCA 0.617 0 99.0 79.0 86.0 14 23311796.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS9577.1 14q11-q12 2011-06-29 2005-08-08 ENSG00000157227 ENSG00000157227 4323.0 4323.0 7160.0 protein-coding gene gene with protein product """membrane type 1 metalloprotease""" 600754.0 """matrix metalloproteinase 14 (membrane-inserted)""" 8015608 Standard NM_004995 NM_004995 Approved MT1-MMP uc001whc.3 P50281 OTTHUMG00000028704 ENST00000311852.6:c.558T>A 14.__UNKNOWN__:g.23311796T>A ENSP00000308208:p.His186Gln A8K5L0|Q6GSF3|Q92678 __UNKNOWN__ CCDS9577.1 . . . . . . . . . . T 22.4 4.283259 0.80803 . . ENSG00000157227 ENST00000311852;ENST00000548761 T;T 0.26957 1.7;1.7 5.67 -0.0364 0.13888 Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.60104 0.2243 H 0.97315 3.98 0.58432 D 0.999994 D 0.89917 1.0 D 0.97110 1.0 T 0.66337 -0.5949 10 0.87932 D 0 . 9.4758 0.38871 0.0:0.5212:0.0:0.4788 . 186 P50281 MMP14_HUMAN Q 186;192 ENSP00000308208:H186Q;ENSP00000446989:H192Q ENSP00000308208:H186Q H + 3 2 MMP14 22381636 0.190000 0.23276 0.993000 0.49108 0.987000 0.75469 -0.385000 0.07379 0.019000 0.15079 0.533000 0.62120 CAT MMP14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000071660.3 + ENST00000311852.6 Missense_Mutation SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO NPY1R 0 broad.mit.edu 37 4 164246696 164246696 + Missense_Mutation SNP C C G TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr4:164246696C>G ENST00000296533.2 - 3.0 1445 c.914G>C c.(913-915)tGc>tCc p.C305S NPY1R_ENST00000509586.1_Missense_Mutation_p.C62S NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 305.0 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601) breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30.0 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TGTGAGGTGGCAGAGCAGGAA 0.423 0 89.0 96.0 94.0 4 164246696.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS34089.1 4q31.3-q32 2012-08-08 ENSG00000164128 4886.0 """GPCR / Class A : Neuropeptide receptors : Y""" 7956.0 protein-coding gene gene with protein product 162641.0 NPYR 8095935 Standard NM_000909 Approved uc003iqm.2 P25929 ENST00000296533.2:c.914G>C 4.__UNKNOWN__:g.164246696C>G ENSP00000354652:p.Cys305Ser B2R6H5 __UNKNOWN__ CCDS34089.1 . . . . . . . . . . C 20.6 4.022262 0.75275 . . ENSG00000164128 ENST00000296533;ENST00000509586;ENST00000504391 T;T;T 0.72835 -0.69;-0.69;1.41 5.74 5.74 0.90152 GPCR, rhodopsin-like superfamily (1); 0.000000 0.85682 D 0.000000 D 0.83769 0.5326 M 0.65975 2.015 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.82762 -0.0297 10 0.48119 T 0.1 . 19.9311 0.97118 0.0:1.0:0.0:0.0 . 305 P25929 NPY1R_HUMAN S 305;62;62 ENSP00000354652:C305S;ENSP00000427284:C62S;ENSP00000422963:C62S ENSP00000354652:C305S C - 2 0 NPY1R 164466146 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.772000 0.85439 2.714000 0.92807 0.655000 0.94253 TGC NPY1R-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000364685.1 - ENST00000296533.2 Missense_Mutation SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO SLC22A2 6582 broad.mit.edu 37 6 160645781 160645781 + Silent SNP C C T TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr6:160645781C>T ENST00000366953.3 - 10.0 1815 c.1557G>A c.(1555-1557)ggG>ggA p.G519G SLC22A2_ENST00000491092.1_5'UTR NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 519.0 body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27.0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495) GCAAAGCTTTCCCTTTAGTTT 0.418 0 121.0 122.0 122.0 6 160645781.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X98333 CCDS5276.1 6q25.3 2013-05-22 ENSG00000112499 ENSG00000112499 6582.0 6582.0 """Solute carriers""" 10966.0 protein-coding gene gene with protein product 602608.0 9605850 Standard NM_003058 NM_003058 Approved OCT2 uc003qtf.3 O15244 OTTHUMG00000015950 ENST00000366953.3:c.1557G>A 6.__UNKNOWN__:g.160645781C>T Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9 __UNKNOWN__ CCDS5276.1 SLC22A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042943.1 - ENST00000366953.3 Silent SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO BOC 91653 broad.mit.edu 37 3 112987285 112987285 + Silent SNP C C A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr3:112987285C>A ENST00000495514.1 + 5.0 1220 c.516C>A c.(514-516)gcC>gcA p.A172A BOC_ENST00000355385.3_Silent_p.A172A|BOC_ENST00000273395.4_Silent_p.A172A Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 172.0 Ig-like C2-type 2. axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224) axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) 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) 68.0 Epithelial(53;0.227) GGCTGGAGGCCTCCAGAGGTG 0.617 0 56.0 50.0 52.0 3 112987285.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AY027658 CCDS2971.1 3q13.2 2013-02-11 2012-12-07 ENSG00000144857 ENSG00000144857 91653.0 91653.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 17173.0 protein-coding gene gene with protein product """brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2""" 608708.0 """Boc homolog (mouse)""" 11782431 Standard NM_033254 NM_033254 Approved CDON2 uc003dzy.3 Q9BWV1 OTTHUMG00000159305 ENST00000495514.1:c.516C>A 3.__UNKNOWN__:g.112987285C>A A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26 __UNKNOWN__ CCDS2971.1 BOC-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000354485.3 + ENST00000495514.1 Silent SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO MACROD2 140733 broad.mit.edu 37 20 15480461 15480461 + Missense_Mutation SNP T T C TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr20:15480461T>C ENST00000217246.4 + 8.0 1009 c.614T>C c.(613-615)aTt>aCt p.I205T MACROD2_ENST00000310348.4_Missense_Mutation_p.I205T|MACROD2_ENST00000402914.1_5'UTR NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 205.0 Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}. brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278) nucleus (GO:0005634) deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798) breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20.0 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) CTCAACACCATTAAGGAATGG 0.448 0 137.0 127.0 130.0 20 15480461.0 1959.0 4159.0 6118.0 SO:0001583 missense BC101218 CCDS13120.2, CCDS33443.1 20p12.1 2011-04-28 2007-07-24 2007-07-24 ENSG00000172264 ENSG00000172264 140733.0 140733.0 16126.0 protein-coding gene gene with protein product 611567.0 """chromosome 20 open reading frame 133""" C20orf133 Standard NM_080676 NM_080676 Approved dJ631M13.5 uc002wot.3 A1Z1Q3 OTTHUMG00000031919 ENST00000217246.4:c.614T>C 20.__UNKNOWN__:g.15480461T>C ENSP00000217246:p.Ile205Thr A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71 __UNKNOWN__ CCDS13120.2 . . . . . . . . . . T 12.22 1.872620 0.33069 . . ENSG00000172264 ENST00000217246;ENST00000310348 T;T 0.27402 1.67;1.67 5.86 3.61 0.41365 Appr-1-p processing (1); 0.134388 0.34386 N 0.004005 T 0.23649 0.0572 L 0.33753 1.03 0.80722 D 1 B;B 0.32467 0.007;0.372 B;B 0.35413 0.003;0.202 T 0.03423 -1.1038 10 0.42905 T 0.14 -1.0966 8.9465 0.35762 0.0:0.2111:0.0:0.7889 . 205;205 A1Z1Q3;A1Z1Q3-2 MACD2_HUMAN;. T 205 ENSP00000217246:I205T;ENSP00000309809:I205T ENSP00000217246:I205T I + 2 0 MACROD2 15428461 1.000000 0.71417 0.999000 0.59377 0.943000 0.58893 1.047000 0.30367 0.482000 0.27582 -0.263000 0.10527 ATT MACROD2-010 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000195553.3 + ENST00000217246.4 Missense_Mutation SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO DNER 92737 broad.mit.edu 37 2 230312065 230312065 + Missense_Mutation SNP C C T TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr2:230312065C>T ENST00000341772.4 - 8.0 1587 c.1453G>A c.(1453-1455)Gtg>Atg p.V485M NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 485.0 EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}. central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416) dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888) 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) 63.0 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) CTGGTGCCCACGCTGCGGCAC 0.552 0 41.0 38.0 39.0 2 230312065.0 2202.0 4299.0 6501.0 SO:0001583 missense AY358891 CCDS33390.1 2q36.3 2006-10-26 ENSG00000187957 ENSG00000187957 92737.0 92737.0 24456.0 protein-coding gene gene with protein product 607299.0 11950833, 11997712 Standard NM_139072 NM_139072 Approved UNQ26, bet uc002vpv.3 Q8NFT8 OTTHUMG00000153637 ENST00000341772.4:c.1453G>A 2.__UNKNOWN__:g.230312065C>T ENSP00000345229:p.Val485Met A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2 __UNKNOWN__ CCDS33390.1 . . . . . . . . . . C 15.51 2.855442 0.51376 . . ENSG00000187957 ENST00000341772;ENST00000543700 D 0.87729 -2.29 4.94 2.97 0.34412 EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1); 0.182021 0.48767 D 0.000169 D 0.84138 0.5406 N 0.16130 0.375 0.47994 D 0.999568 D 0.76494 0.999 D 0.66847 0.947 T 0.81052 -0.1107 10 0.31617 T 0.26 . 8.7086 0.34369 0.0:0.6322:0.2908:0.077 . 485 Q8NFT8 DNER_HUMAN M 485;203 ENSP00000345229:V485M ENSP00000345229:V485M V - 1 0 DNER 230020309 0.978000 0.34361 0.996000 0.52242 0.924000 0.55760 1.900000 0.39828 1.188000 0.43014 0.655000 0.94253 GTG DNER-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000331902.1 - ENST00000341772.4 Missense_Mutation SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO POLE2 5427 broad.mit.edu 37 14 50146494 50146494 + Missense_Mutation SNP G G C TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr14:50146494G>C ENST00000216367.5 - 3.0 293 c.194C>G c.(193-195)tCt>tGt p.S65C POLE2_ENST00000553805.2_Missense_Mutation_p.S65C|POLE2_ENST00000539565.2_Missense_Mutation_p.S65C|POLE2_ENST00000554396.1_Missense_Mutation_p.S65C|POLE2_ENST00000556584.1_5'UTR NM_002692.3 NP_002683.2 P56282 DPOE2_HUMAN polymerase (DNA directed), epsilon 2, accessory subunit 65.0 DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283) epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887) kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 10.0 all_epithelial(31;0.0021)|Breast(41;0.0124) Cladribine(DB00242) TTCCACCACAGATCGTTCAAT 0.368 0 100.0 85.0 90.0 14 50146494.0 2203.0 4300.0 6503.0 SO:0001583 missense AF025840 CCDS32073.1, CCDS55914.1, CCDS55915.1 14q21-q22 2012-05-18 2012-05-18 ENSG00000100479 ENSG00000100479 5427.0 5427.0 """DNA polymerases""" 9178.0 protein-coding gene gene with protein product """DNA polymerase epsilon subunit B""" 602670.0 """polymerase (DNA directed), epsilon 2 (p59 subunit)""" 9405441, 9443964 Standard NM_002692 NM_002692 Approved DPE2 uc001wwu.3 P56282 OTTHUMG00000170813 ENST00000216367.5:c.194C>G 14.__UNKNOWN__:g.50146494G>C ENSP00000216367:p.Ser65Cys A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560 __UNKNOWN__ CCDS32073.1 . . . . . . . . . . G 15.58 2.875742 0.51695 . . ENSG00000100479 ENST00000216367;ENST00000539565;ENST00000554396 T;T;T 0.32515 1.86;1.84;1.45 5.44 5.44 0.79542 DNA polymerase epsilon subunit B, N-terminal (1); 0.055833 0.64402 D 0.000001 T 0.32556 0.0833 L 0.45581 1.43 0.80722 D 1 B 0.06786 0.001 B 0.11329 0.006 T 0.05289 -1.0894 10 0.49607 T 0.09 -30.9224 18.8619 0.92276 0.0:0.0:1.0:0.0 . 65 P56282 DPOE2_HUMAN C 65 ENSP00000216367:S65C;ENSP00000446313:S65C;ENSP00000451621:S65C ENSP00000216367:S65C S - 2 0 POLE2 49216244 0.963000 0.33076 1.000000 0.80357 0.812000 0.45895 5.184000 0.65070 2.537000 0.85549 0.655000 0.94253 TCT POLE2-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000410512.1 - ENST00000216367.5 Missense_Mutation SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO IGFBP3 3486 broad.mit.edu 37 7 45956263 45956263 + Missense_Mutation SNP G G A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr7:45956263G>A ENST00000381083.4 - 3.0 762 c.652C>T c.(652-654)Ccc>Tcc p.P218S IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000275521.6_Missense_Mutation_p.P212S|IGFBP3_ENST00000381086.5_Missense_Mutation_p.P115S P17936 IBP3_HUMAN insulin-like growth factor binding protein 3 212.0 Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}. apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634) insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160) large_intestine(6)|lung(7)|pancreas(1)|prostate(3) 17.0 Mecasermin(DB01277) CTACGGCAGGGACCCTGGGGA 0.468 0 148.0 133.0 138.0 7 45956263.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS5505.1, CCDS34632.1 7p12.3 2014-09-17 ENSG00000146674 ENSG00000146674 3486.0 3486.0 5472.0 protein-coding gene gene with protein product """growth hormone-dependent binding protein"", ""acid stable subunit of the 140 K IGF complex"", ""binding protein 53"", ""binding protein 29"", ""IGF-binding protein 3""" 146732.0 1695633 Standard NM_001013398 NM_000598 Approved IBP3, BP-53 uc003tnr.3 P17936 OTTHUMG00000023769 ENST00000381083.4:c.652C>T 7.__UNKNOWN__:g.45956263G>A ENSP00000370473:p.Pro218Ser A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4 __UNKNOWN__ CCDS34632.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 25.2|25.2 4.617462|4.617462 0.87359|0.87359 .|. .|. ENSG00000146674|ENSG00000146674 ENST00000545032;ENST00000275521;ENST00000381086;ENST00000438491;ENST00000442142;ENST00000381083;ENST00000433047;ENST00000448817|ENST00000417621 T;T;T;T|. 0.65732|. -0.17;-0.17;-0.17;-0.17|. 4.83|4.83 4.83|4.83 0.62350|0.62350 Thyroglobulin type-1 (2);|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.73497|0.73497 0.3594|0.3594 M|M 0.72576|0.72576 2.205|2.205 0.80722|0.80722 D|D 1|1 D;D;D|. 0.89917|. 1.0;1.0;1.0|. D;D;D|. 0.85130|. 0.997;0.992;0.992|. T|T 0.74109|0.74109 -0.3771|-0.3771 10|5 0.56958|. D|. 0.05|. -32.6798|-32.6798 15.4189|15.4189 0.74995|0.74995 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 115;212;197|. B3KWK7;P17936;B4DN53|. .;IBP3_HUMAN;.|. S|F 189;212;115;198;110;218;184;102|73 ENSP00000275521:P212S;ENSP00000370476:P115S;ENSP00000370473:P218S;ENSP00000389668:P102S|. ENSP00000275521:P212S|. P|S -|- 1|2 0|0 IGFBP3|IGFBP3 45922788|45922788 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.871000|0.871000 0.50021|0.50021 9.272000|9.272000 0.95707|0.95707 2.236000|2.236000 0.73375|0.73375 0.655000|0.655000 0.94253|0.94253 CCC|TCC IGFBP3-020 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000353842.1 - ENST00000381083.4 Missense_Mutation SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO PODNL1 79883 broad.mit.edu 37 19 14043665 14043665 + Silent SNP C C T TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr19:14043665C>T ENST00000339560.5 - 8.0 1665 c.1392G>A c.(1390-1392)cgG>cgA p.R464R PODNL1_ENST00000538517.2_Silent_p.R373R|PODNL1_ENST00000254320.3_Silent_p.R382R|PODNL1_ENST00000538371.2_Silent_p.R462R NM_024825.3 NP_079101.3 Q6PEZ8 PONL1_HUMAN podocan-like 1 464.0 proteinaceous extracellular matrix (GO:0005578) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1) 8.0 OV - Ovarian serous cystadenocarcinoma(19;5.26e-23) CGACCCGGAGCCGGTTGTGCG 0.692 0 14.0 18.0 17.0 19 14043665.0 2194.0 4292.0 6486.0 SO:0001819 synonymous_variant AK027100 CCDS12300.1, CCDS54225.1, CCDS54226.1 19p13.12 2008-02-05 79883.0 79883.0 26275.0 protein-coding gene gene with protein product 12477932 Standard NM_024825 NM_024825 Approved FLJ23447, SLRR5B uc010xnj.2 Q6PEZ8 ENST00000339560.5:c.1392G>A 19.__UNKNOWN__:g.14043665C>T B7Z564|Q9H5G9 __UNKNOWN__ CCDS12300.1 PODNL1-003 KNOWN overlapping_uORF|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000457967.1 - ENST00000339560.5 Silent SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO Unknown 0 bcgsc.ca 37 2 73928333 73928333 + RNA SNP G G A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr2:73928333G>A ALMS1P (15630 upstream) : TPRKB (28623 downstream) AGTAATCGCCGGAAGGTGGCT 0.607 0 G TRP/ARG 1,4403 2.1+/-5.4 0,1,2201 70.0 75.0 73.0 100 -2.1 0.0 2 73.0 1,8599 1.2+/-3.3 0,1,4299 yes missense NAT8B NM_016347.2 101 0,2,6500 AA,AG,GG 0.0116,0.0227,0.0154 benign 34/228 73928333.0 2,13002 2202.0 4300.0 6502.0 SO:0001628 intergenic_variant 2.__UNKNOWN__:g.73928333G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO AFM 173 bcgsc.ca 37 4 74364841 74364841 + Missense_Mutation SNP A A G TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr4:74364841A>G ENST00000226355.3 + 11.0 1393 c.1300A>G c.(1300-1302)Agg>Ggg p.R434G NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 434.0 Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}. vitamin transport (GO:0051180) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) vitamin E binding (GO:0008431) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32.0 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTACCTCATCAGGCTCACGAA 0.453 0 172.0 154.0 160.0 4 74364841.0 2203.0 4300.0 6503.0 SO:0001583 missense L32140 CCDS3557.1 4q13.3 2008-06-11 ENSG00000079557 ENSG00000079557 173.0 173.0 316.0 protein-coding gene gene with protein product 104145 7517938 Standard NM_001133 Approved ALB2, ALBA uc003hhb.3 P43652 OTTHUMG00000130004 ENST00000226355.3:c.1300A>G 4.__UNKNOWN__:g.74364841A>G ENSP00000226355:p.Arg434Gly A8K3E1|Q32MR3|Q4W5C5 __UNKNOWN__ CCDS3557.1 . . . . . . . . . . A 1.564 -0.535924 0.04082 . . ENSG00000079557 ENST00000226355 T 0.58797 0.31 5.55 -1.48 0.08745 Serum albumin-like (1);Serum albumin, N-terminal (3); 1.147490 0.06350 N 0.709724 T 0.43433 0.1247 L 0.52573 1.65 0.09310 N 1 B 0.27416 0.178 B 0.28385 0.089 T 0.28004 -1.0057 10 0.18710 T 0.47 . 0.9983 0.01472 0.3674:0.3094:0.174:0.1491 . 434 P43652 AFAM_HUMAN G 434 ENSP00000226355:R434G ENSP00000226355:R434G R + 1 2 AFM 74583705 0.000000 0.05858 0.002000 0.10522 0.004000 0.04260 -0.099000 0.11007 0.394000 0.25230 0.533000 0.62120 AGG AFM-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252275.2 + ENST00000226355.3 Missense_Mutation SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO RTN4 57142 bcgsc.ca 37 2 55237310 55237310 + Missense_Mutation SNP A A C TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr2:55237310A>C ENST00000394609.2 - 0.0 275 RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Intron|RTN4_ENST00000404909.1_Intron|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000357376.3_Intron|RTN4_ENST00000337526.6_Intron|RTN4_ENST00000394611.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron NM_007008.2 NP_008939.1 Q9NQC3 RTN4_HUMAN reticulon 4 angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334) cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886) poly(A) RNA binding (GO:0044822) NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36.0 ATACCAACAGAAAAGCTGTAA 0.448 0 188.0 145.0 158.0 2 55237310.0 692.0 1591.0 2283.0 SO:0001623 5_prime_UTR_variant AF087901 CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1 2p14-p13 2008-05-23 ENSG00000115310 ENSG00000115310 57142.0 57142.0 14085.0 protein-coding gene gene with protein product 604475 10667797, 10773680 Standard NM_020532 Approved NSP-CL, KIAA0886, NOGO, ASY uc002rye.3 Q9NQC3 OTTHUMG00000129337 ENST00000394609.2:c.-54T>G 2.__UNKNOWN__:g.55237310A>C O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6 __UNKNOWN__ CCDS42685.1 RTN4-008 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000326317.1 - ENST00000394609.2 5'UTR SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO FBXO24 26261 ucsc.edu 37 7 100190440 100190440 + Missense_Mutation SNP G G A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr7:100190440G>A ENST00000241071.6 + 5.0 915 c.593G>A c.(592-594)cGt>cAt p.R198H FBXO24_ENST00000427939.2_Missense_Mutation_p.R236H|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.R184H|FBXO24_ENST00000468962.1_Missense_Mutation_p.R186H|FBXO24_ENST00000360609.2_Missense_Mutation_p.R184H NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 198.0 protein ubiquitination (GO:0016567) ubiquitin ligase complex (GO:0000151) ubiquitin-protein transferase activity (GO:0004842) NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28.0 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) ACAGTTTACCGTAAATACCTC 0.567 0 61.0 58.0 59.0 7 100190440.0 2203.0 4300.0 6503.0 SO:0001583 missense AF174604 CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1 7q22 2005-10-07 2004-06-15 ENSG00000106336 ENSG00000106336 26261.0 26261.0 """F-boxes / ""other""""" 13595.0 protein-coding gene gene with protein product 609097 """F-box only protein 24""" 10531035, 10531037 Standard NM_012172 Approved FBX24 uc011kjz.1 O75426 OTTHUMG00000159543 ENST00000241071.6:c.593G>A 7.__UNKNOWN__:g.100190440G>A ENSP00000241071:p.Arg198His A4D2D4|B4DX91|B4DY42|Q9H0G1 __UNKNOWN__ CCDS5698.1 . . . . . . . . . . G 27.4 4.830173 0.91036 . . ENSG00000106336 ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939 T;T;T;T;T 0.53857 2.13;0.6;0.6;2.13;2.1 5.74 5.74 0.90152 . 0.000000 0.53938 D 0.000045 T 0.57301 0.2044 N 0.14661 0.345 0.42017 D 0.990968 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.79784 0.991;0.991;0.991;0.993 T 0.63765 -0.6563 10 0.87932 D 0 -20.4615 15.4922 0.75615 0.0:0.0:1.0:0.0 . 186;236;198;184 B4DY42;B4DX91;O75426;O75426-2 .;.;FBX24_HUMAN;. H 198;184;184;186;236 ENSP00000241071:R198H;ENSP00000353821:R184H;ENSP00000419602:R184H;ENSP00000420239:R186H;ENSP00000416558:R236H ENSP00000241071:R198H R + 2 0 FBXO24 100028376 1.000000 0.71417 0.971000 0.41717 0.913000 0.54294 5.309000 0.65774 2.740000 0.93945 0.558000 0.71614 CGT FBXO24-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356104.1 + ENST00000241071.6 Missense_Mutation SNP PCPG-TCGA-QR-A70G-Normal-SM-5EQFO GPR124 25960 broad.mit.edu 37 8 37697651 37697651 + Missense_Mutation SNP C C G TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr8:37697651C>G ENST00000412232.2 + 17.0 2537 c.2524C>G c.(2524-2526)Ctg>Gtg p.L842V GPR124_ENST00000315215.7_Missense_Mutation_p.L625V NM_032777.9 NP_116166.9 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 842.0 central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040) cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37.0 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GGGCATCACCCTGCACTACTC 0.652 0 60.0 52.0 55.0 8 37697651.0 2203.0 4300.0 6503.0 SO:0001583 missense AB040964 CCDS6097.2 8p11.22 2014-08-08 ENSG00000020181 ENSG00000020181 25960.0 25960.0 """-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 17849.0 protein-coding gene gene with protein product """tumor endothelial marker 5""" 606823.0 11559528, 12565841 Standard NM_032777 Approved TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390 uc003xkj.3 Q96PE1 OTTHUMG00000156182 ENST00000412232.2:c.2524C>G 8.__UNKNOWN__:g.37697651C>G ENSP00000406367:p.Leu842Val A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4 __UNKNOWN__ CCDS6097.2 . . . . . . . . . . C 19.42 3.823331 0.71143 . . ENSG00000020181 ENST00000416514;ENST00000315215;ENST00000412232 T;T 0.51817 0.69;0.69 3.95 3.95 0.45737 GPCR, family 2-like (1); 0.000000 0.64402 D 0.000005 T 0.70509 0.3232 M 0.89095 3.005 0.58432 D 0.999997 D;D 0.89917 1.0;1.0 D;D 0.87578 0.997;0.998 T 0.75926 -0.3145 10 0.87932 D 0 -13.8914 10.7437 0.46168 0.0:0.8962:0.0:0.1038 . 625;842 Q96PE1-2;Q96PE1 .;GP124_HUMAN V 835;625;842 ENSP00000323508:L625V;ENSP00000406367:L842V ENSP00000323508:L625V L + 1 2 GPR124 37816809 0.927000 0.31430 1.000000 0.80357 0.653000 0.38743 1.349000 0.33998 2.192000 0.70111 0.655000 0.94253 CTG GPR124-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000343331.2 + ENST00000412232.2 Missense_Mutation SNP PCPG-TCGA-QR-A70H-Normal-SM-5EQGO PRUNE2 158471 broad.mit.edu 37 9 79322065 79322065 + Missense_Mutation SNP C C T TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr9:79322065C>T ENST00000376718.3 - 8.0 5248 c.5125G>A c.(5125-5127)Gtt>Att p.V1709I PRUNE2_ENST00000428286.1_Missense_Mutation_p.V1350I NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1709.0 apoptotic process (GO:0006915) cytoplasm (GO:0005737) metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462) endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16.0 TCCTCAGCAACGTGGCAGTTG 0.443 0 97.0 82.0 86.0 9 79322065.0 1568.0 3582.0 5150.0 SO:0001583 missense BC019095 CCDS47982.1 9q21.32 2013-04-29 2006-11-24 2006-11-24 ENSG00000106772 ENSG00000106772 158471.0 158471.0 25209.0 protein-coding gene gene with protein product """olfaxin""" 610691.0 """chromosome 9 open reading frame 65"", ""KIAA0367""" C9orf65, KIAA0367 16288218 Standard NM_138818 NM_015225 Approved BMCC1, BNIPXL, A214N16.3, bA214N16.3 uc010mpk.3 Q8WUY3 OTTHUMG00000020047 ENST00000376718.3:c.5125G>A 9.__UNKNOWN__:g.79322065C>T ENSP00000365908:p.Val1709Ile B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665 __UNKNOWN__ CCDS47982.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. c|c 0.066|0.066 -1.213072|-1.213072 0.01555|0.01555 .|. .|. ENSG00000106772|ENSG00000106772 ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033 .|T;T .|0.46819 .|0.86;0.86 5.56|5.56 2.72|2.72 0.32119|0.32119 .|. .|1.236560 .|0.05826 .|N .|0.616587 T|T 0.27594|0.27594 0.0678|0.0678 N|N 0.16478|0.16478 0.41|0.41 0.09310|0.09310 N|N 1|1 .|B .|0.14012 .|0.009 .|B .|0.06405 .|0.002 T|T 0.23976|0.23976 -1.0173|-1.0173 5|10 .|0.09338 .|T .|0.73 0.3567|0.3567 3.7712|3.7712 0.08642|0.08642 0.1356:0.588:0.131:0.1455|0.1356:0.588:0.131:0.1455 .|. .|1709 .|Q8WUY3 .|PRUN2_HUMAN H|I 1030|1709;1350;1708 .|ENSP00000365908:V1709I;ENSP00000397425:V1350I .|ENSP00000365908:V1709I R|V -|- 2|1 0|0 PRUNE2|PRUNE2 78511885|78511885 0.001000|0.001000 0.12720|0.12720 0.001000|0.001000 0.08648|0.08648 0.010000|0.010000 0.07245|0.07245 0.591000|0.591000 0.23969|0.23969 0.302000|0.302000 0.22762|0.22762 -0.739000|-0.739000 0.03532|0.03532 CGT|GTT PRUNE2-003 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052730.2 - ENST00000376718.3 Missense_Mutation SNP PCPG-TCGA-QR-A70H-Normal-SM-5EQGO BRCA2 675 broad.mit.edu 37 13 32968858 32968858 + Missense_Mutation SNP T T C TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr13:32968858T>C ENST00000380152.3 + 25.0 9522 c.9289T>C c.(9289-9291)Tgt>Cgt p.C3097R BRCA2_ENST00000544455.1_Missense_Mutation_p.C3097R P51587 BRCA2_HUMAN breast cancer 2, early onset 3097.0 brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283) BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141) gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697) 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) 183.0 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) GTCAGACGAATGTTACAATTT 0.353 """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) Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332) yes Rec yes Hereditary breast/ovarian cancer 13 13q12 675.0 familial breast/ovarian cancer gene 2 """L, E""" 0 72.0 71.0 71.0 13 32968858.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups) U43746 CCDS9344.1 13q12-q13 2014-09-17 2003-10-14 ENSG00000139618 ENSG00000139618 675.0 675.0 """Fanconi anemia, complementation groups""" 1101.0 protein-coding gene gene with protein product """BRCA1/BRCA2-containing complex, subunit 2""" 600185.0 """Fanconi anemia, complementation group D1""" FANCD1, FACD, FANCD 8091231, 7581463, 15057823 Standard NM_000059 NM_000059 Approved FAD, FAD1, BRCC2 uc001uub.1 P51587 OTTHUMG00000017411 ENST00000380152.3:c.9289T>C 13.__UNKNOWN__:g.32968858T>C ENSP00000369497:p.Cys3097Arg O00183|O15008|Q13879|Q5TBJ7 __UNKNOWN__ CCDS9344.1 . . . . . . . . . . T 6.451 0.451382 0.12223 . . ENSG00000139618 ENST00000380152;ENST00000544455 D;D 0.81579 -1.51;-1.51 5.9 2.01 0.26516 Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 3 (1); 0.621296 0.19246 N 0.119048 T 0.80053 0.4553 M 0.72479 2.2 0.24160 N 0.995665 D 0.57899 0.981 P 0.51806 0.68 T 0.70296 -0.4911 10 0.52906 T 0.07 . 2.3553 0.04294 0.3894:0.0716:0.1223:0.4166 . 3097 P51587 BRCA2_HUMAN R 3097 ENSP00000369497:C3097R;ENSP00000439902:C3097R ENSP00000369497:C3097R C + 1 0 BRCA2 31866858 0.877000 0.30153 0.338000 0.25549 0.199000 0.23934 0.403000 0.20982 0.112000 0.17975 0.460000 0.39030 TGT BRCA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000046000.2 + ENST00000380152.3 Missense_Mutation SNP PCPG-TCGA-QR-A70H-Normal-SM-5EQGO IHH 3549 broad.mit.edu 37 2 219924911 219924911 + Missense_Mutation SNP G G C TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr2:219924911G>C ENST00000295731.6 - 1.0 278 c.279C>G c.(277-279)gaC>gaG p.D93E NM_002181.3 NP_002172.2 Q14623 IHH_HUMAN indian hedgehog 93.0 bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704) extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233) breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14.0 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGTTCTCCTCGTCCTTGAAGA 0.657 0 63.0 63.0 63.0 2 219924911.0 2203.0 4300.0 6503.0 SO:0001583 missense L38517 CCDS33380.1 2q33-q35 2013-02-15 2013-02-15 ENSG00000163501 ENSG00000163501 3549.0 3549.0 5956.0 protein-coding gene gene with protein product 600726.0 """Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)""" 7590746, 14770182 Standard NM_002181 NM_002181 Approved HHG2, BDA1 uc002vjo.2 Q14623 OTTHUMG00000154631 ENST00000295731.6:c.279C>G 2.__UNKNOWN__:g.219924911G>C ENSP00000295731:p.Asp93Glu B9EGM5|O43322|Q8N4B9 __UNKNOWN__ CCDS33380.1 . . . . . . . . . . G 18.67 3.674368 0.67928 . . ENSG00000163501 ENST00000295731 D 0.99571 -6.19 4.22 3.32 0.38043 Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1); 0.054006 0.64402 N 0.000001 D 0.99468 0.9811 M 0.91818 3.245 0.45554 D 0.998505 D 0.61697 0.99 P 0.56216 0.794 D 0.98905 1.0778 10 0.87932 D 0 -10.2086 9.8323 0.40950 0.0:0.1513:0.6925:0.1562 . 93 Q14623 IHH_HUMAN E 93 ENSP00000295731:D93E ENSP00000295731:D93E D - 3 2 IHH 219633155 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 0.802000 0.27069 0.944000 0.37579 0.555000 0.69702 GAC IHH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000336408.2 - ENST00000295731.6 Missense_Mutation SNP PCPG-TCGA-QR-A70H-Normal-SM-5EQGO NUDCD2 134492 broad.mit.edu 37 5 162886940 162886941 + Missense_Mutation DNP GC GC TT rs141206788 TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr5:162886940_162886941GC>TT ENST00000302764.4 - 1.0 205_206 c.116_117GC>AA c.(115-117)cGC>cAA p.R39Q NUDCD2_ENST00000517501.1_Missense_Mutation_p.R39Q NM_145266.4 NP_660309.1 Q8WVJ2 NUDC2_HUMAN NudC domain containing 2 39.0 CS. {ECO:0000255|PROSITE- ProRule:PRU00547}. cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630) large_intestine(1)|prostate(1) 2.0 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) TATCCTGGGCGCGCGTGCCTGG 0.673 0 SO:0001583 missense BX538290 CCDS4361.1 5q34 2008-02-05 ENSG00000170584 ENSG00000170584 134492.0 134492.0 30535.0 protein-coding gene gene with protein product Standard NM_145266 NM_145266 Approved DKFZp686E10109 uc003lze.3 Q8WVJ2 OTTHUMG00000130378 ENST00000302764.4:c.116_117delinsTT 5.__UNKNOWN__:g.162886940_162886941delinsTT ENSP00000304854:p.Arg39Gln B2R4V0 __UNKNOWN__ CCDS4361.1 NUDCD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252747.3 - ENST00000302764.4 Missense_Mutation DNP PCPG-TCGA-QR-A70H-Normal-SM-5EQGO ETV7 51513 broad.mit.edu 37 6 36343733 36343733 + Silent SNP G G A TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr6:36343733G>A ENST00000340181.4 - 3.0 463 c.222C>T c.(220-222)tgC>tgT p.C74C ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373737.4_Silent_p.C74C|ETV7_ENST00000339796.5_Silent_p.C74C|ETV7_ENST00000373738.1_Intron NM_001207037.1|NM_001207040.1|NM_016135.3 NP_001193966.1|NP_001193969.1|NP_057219.1 Q9Y603 ETV7_HUMAN ets variant 7 74.0 PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}. cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10.0 GCTCCGCGGTGCATGGCAGAG 0.652 0 96.0 77.0 83.0 6 36343733.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF116508 CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1 6p21 2008-09-12 2008-09-12 ENSG00000010030 ENSG00000010030 51513.0 51513.0 18160.0 protein-coding gene gene with protein product """TEL2 oncogene""" 605255.0 """ets variant gene 7 (TEL2 oncogene)""" 10828014, 11108721 Standard NM_016135 NM_016135 Approved TEL2, TEL-2 uc003omb.3 Q9Y603 OTTHUMG00000014594 ENST00000340181.4:c.222C>T 6.__UNKNOWN__:g.36343733G>A B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604 __UNKNOWN__ CCDS4819.1 ETV7-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000040341.1 - ENST00000340181.4 Silent SNP PCPG-TCGA-QR-A70H-Normal-SM-5EQGO ZNF77 58492 broad.mit.edu 37 19 2936578 2936578 + Missense_Mutation SNP T T G TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr19:2936578T>G ENST00000314531.4 - 3.0 347 c.255A>C c.(253-255)gaA>gaC p.E85D NM_021217.2 NP_067040.1 Q15935 ZNF77_HUMAN zinc finger protein 77 85.0 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1) 17.0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) ATCTCCAATTTTCTCCAAAAA 0.468 0 83.0 86.0 85.0 19 2936578.0 2203.0 4300.0 6503.0 SO:0001583 missense X65230 CCDS12099.1 19p13.3 2013-01-08 2006-05-12 58492.0 58492.0 """Zinc fingers, C2H2-type"", ""-""" 13150.0 protein-coding gene gene with protein product 194551.0 """zinc finger protein 77 (pT1)""" 8478004 Standard NM_021217 NM_021217 Approved pT1 uc002lws.4 Q15935 ENST00000314531.4:c.255A>C 19.__UNKNOWN__:g.2936578T>G ENSP00000319053:p.Glu85Asp Q86XJ3|Q9NPP0 __UNKNOWN__ CCDS12099.1 . . . . . . . . . . T 6.760 0.509122 0.12883 . . ENSG00000175691 ENST00000314531 T 0.09073 3.02 2.52 0.228 0.15364 Krueppel-associated box (1); . . . . T 0.04137 0.0115 N 0.19112 0.55 0.09310 N 1 B 0.27498 0.18 B 0.14578 0.011 T 0.40997 -0.9533 9 0.38643 T 0.18 . 2.0317 0.03530 0.26:0.1566:0.0:0.5834 . 85 Q15935 ZNF77_HUMAN D 85 ENSP00000319053:E85D ENSP00000319053:E85D E - 3 2 ZNF77 2887578 0.004000 0.15560 0.000000 0.03702 0.007000 0.05969 0.166000 0.16583 -0.029000 0.13827 -0.604000 0.04097 GAA ZNF77-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451924.1 - ENST00000314531.4 Missense_Mutation SNP PCPG-TCGA-QR-A70H-Normal-SM-5EQGO MLLT6 4302 broad.mit.edu 37 17 36873756 36873756 + Missense_Mutation SNP C C T TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr17:36873756C>T ENST00000325718.7 + 11.0 1814 c.1723C>T c.(1723-1725)Ctc>Ttc p.L575F CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 575.0 regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634) zinc ion binding (GO:0008270) breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8.0 Breast(7;4.43e-21) CAGCACCCCTCTCTCCTCCAG 0.657 T MLL AL Dom yes 17 17q21 4302.0 """myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)""" L 0 47.0 50.0 49.0 17 36873756.0 2203.0 4299.0 6502.0 SO:0001583 missense CCDS11327.1 17q21 2014-04-10 2001-11-28 ENSG00000108292 ENSG00000275023 4302.0 4302.0 """Zinc fingers, PHD-type""" 7138.0 protein-coding gene gene with protein product """Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog""" 600328.0 """myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6""" 8058765 Standard NM_005937 NM_005937 Approved AF17, FLJ23480 uc002hqi.4 P55198 OTTHUMG00000188498 ENST00000325718.7:c.1723C>T 17.__UNKNOWN__:g.36873756C>T ENSP00000316426:p.Leu575Phe Q59F28|Q96IU3|Q9H5F6|Q9UF49 __UNKNOWN__ CCDS11327.1 . . . . . . . . . . C 25.7 4.662992 0.88251 . . ENSG00000108292 ENST00000325718 T 0.13657 2.57 4.93 4.93 0.64822 . 0.158384 0.43110 D 0.000606 T 0.34978 0.0916 L 0.59436 1.845 0.58432 D 0.999999 D;D 0.76494 0.999;0.998 D;D 0.87578 0.998;0.991 T 0.04005 -1.0985 10 0.72032 D 0.01 . 16.8774 0.86055 0.0:1.0:0.0:0.0 . 29;575 Q96I32;P55198 .;AF17_HUMAN F 575 ENSP00000316426:L575F ENSP00000316426:L575F L + 1 0 MLLT6 34127282 1.000000 0.71417 0.995000 0.50966 0.930000 0.56654 4.712000 0.61888 2.561000 0.86390 0.563000 0.77884 CTC MLLT6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256799.1 + ENST00000325718.7 Missense_Mutation SNP PCPG-TCGA-QR-A70H-Normal-SM-5EQGO GLG1 2734 broad.mit.edu 37 16 74502950 74502950 + Missense_Mutation SNP A A C TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr16:74502950A>C ENST00000447066.2 - 16.0 2314 c.2297T>G c.(2296-2298)gTg>gGg p.V766G GLG1_ENST00000205061.5_Missense_Mutation_p.V777G|GLG1_ENST00000422840.2_Missense_Mutation_p.V777G NM_001145666.1 NP_001139138.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 777.0 blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330) extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) receptor binding (GO:0005102) breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57.0 CAGGCAGATCACCACGTCCAC 0.622 0 55.0 49.0 51.0 16 74502950.0 2198.0 4300.0 6498.0 SO:0001583 missense CCDS32485.1, CCDS45526.1, CCDS45527.1 16q22-q23 2010-02-12 2010-02-12 ENSG00000090863 2734.0 2734.0 4316.0 protein-coding gene gene with protein product 600753.0 """golgi apparatus protein 1""" 8530051, 7531823 Standard NM_012201 NM_012201 Approved MG-160, ESL-1, CFR-1 uc002fcx.3 Q92896 ENST00000447066.2:c.2297T>G 16.__UNKNOWN__:g.74502950A>C ENSP00000406946:p.Val766Gly B7Z8Y4|D3DUJ7|Q13221|Q6P9D1 __UNKNOWN__ CCDS45526.1 . . . . . . . . . . A 28.0 4.884162 0.91814 . . ENSG00000090863 ENST00000205061;ENST00000447066;ENST00000422840 . . . 5.71 5.71 0.89125 . 0.000000 0.85682 D 0.000000 T 0.76321 0.3971 M 0.61703 1.905 0.80722 D 1 D;D;D 0.65815 0.972;0.989;0.995 D;P;P 0.68039 0.955;0.736;0.828 T 0.78879 -0.2030 9 0.87932 D 0 -6.6199 15.9855 0.80147 1.0:0.0:0.0:0.0 . 777;777;766 Q92896;Q92896-2;B7Z8Y4 GSLG1_HUMAN;.;. G 777;766;777 . ENSP00000205061:V777G V - 2 0 GLG1 73060451 1.000000 0.71417 1.000000 0.80357 0.880000 0.50808 9.335000 0.96500 2.180000 0.69256 0.383000 0.25322 GTG GLG1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000435751.1 - ENST00000447066.2 Missense_Mutation SNP PCPG-TCGA-QR-A70H-Normal-SM-5EQGO RAPH1 65059 broad.mit.edu 37 2 204354775 204354775 + Silent SNP G G A TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr2:204354775G>A ENST00000319170.5 - 4.0 563 c.264C>T c.(262-264)gcC>gcT p.A88A RAPH1_ENST00000374493.3_Silent_p.A88A|RAPH1_ENST00000439222.1_Silent_p.A88A|RAPH1_ENST00000374488.2_Silent_p.A88A|RAPH1_ENST00000423104.1_Silent_p.A88A|RAPH1_ENST00000453034.1_Silent_p.A88A|RAPH1_ENST00000308091.4_Silent_p.A88A|RAPH1_ENST00000457812.1_Silent_p.A88A|RAPH1_ENST00000418114.1_Silent_p.A88A|RAPH1_ENST00000419464.1_Silent_p.A88A|RAPH1_ENST00000374489.2_Silent_p.A88A NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 88.0 axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165) cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886) breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32.0 CAGCCATCAAGGCATCCAGAT 0.393 0 120.0 117.0 118.0 2 204354775.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant AJ584699 CCDS2359.1, CCDS2360.1 2q33 2013-01-10 2003-11-25 2003-11-26 ENSG00000173166 ENSG00000173166 65059.0 65059.0 """Pleckstrin homology (PH) domain containing""" 14436.0 protein-coding gene gene with protein product """amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18""" 609035.0 """amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9""" ALS2CR9, ALS2CR18 Standard NM_025252 NM_203365 Approved KIAA1681 uc002vad.3 Q70E73 OTTHUMG00000132876 ENST00000319170.5:c.264C>T 2.__UNKNOWN__:g.204354775G>A Q96Q37|Q9C0I2 __UNKNOWN__ CCDS2359.1 RAPH1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256363.2 - ENST00000319170.5 Silent SNP PCPG-TCGA-QR-A70H-Normal-SM-5EQGO SCYL2 55681 broad.mit.edu 37 12 100722992 100722992 + Silent SNP T T C TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr12:100722992T>C ENST00000360820.2 + 13.0 2093 c.1656T>C c.(1654-1656)tgT>tgC p.C552C NM_017988.4 NP_060458.3 Q6P3W7 SCYL2_HUMAN SCY1-like 2 (S. cerevisiae) 552.0 endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286) cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41.0 TTTACAAATGTACTTTTACTC 0.313 0 54.0 57.0 56.0 12 100722992.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant AB037781 CCDS9076.1 12q23.1 2005-01-20 ENSG00000136021 55681.0 55681.0 19286.0 protein-coding gene gene with protein product 10718198 Standard NM_017988 NM_017988 Approved KIAA1360 uc001thn.3 Q6P3W7 OTTHUMG00000170319 ENST00000360820.2:c.1656T>C 12.__UNKNOWN__:g.100722992T>C A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7 __UNKNOWN__ CCDS9076.1 SCYL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000408493.2 + ENST00000360820.2 Silent SNP PCPG-TCGA-QR-A70H-Normal-SM-5EQGO MTFR1 9650 broad.mit.edu 37 8 66617057 66617057 + Missense_Mutation SNP A A G TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr8:66617057A>G ENST00000262146.4 + 5.0 536 c.410A>G c.(409-411)aAt>aGt p.N137S MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.N104S NM_014637.3 NP_055452.3 Q15390 MTFR1_HUMAN mitochondrial fission regulator 1 137.0 aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1) 11.0 Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194) GCGCTGGCAAATGAGGAAGCA 0.493 0 50.0 51.0 50.0 8 66617057.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS6182.1, CCDS55240.1 8q13.1 2012-11-30 9650.0 9650.0 29510.0 protein-coding gene gene with protein product """likely ortholog of chicken chondrocyte protein with a poly proline region""" 7584026, 7584028, 15389597 Standard NM_014637 NM_014637 Approved CHPPR, KIAA0009, FAM54A2 uc003xvn.2 Q15390 ENST00000262146.4:c.410A>G 8.__UNKNOWN__:g.66617057A>G ENSP00000262146:p.Asn137Ser E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7 __UNKNOWN__ CCDS6182.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 10.38|10.38 1.334842|1.334842 0.24253|0.24253 .|. .|. ENSG00000066855|ENSG00000066855 ENST00000518800|ENST00000518609;ENST00000262146;ENST00000458689 .|T;T .|0.43688 .|0.94;0.94 5.39|5.39 3.04|3.04 0.35103|0.35103 .|. .|0.232106 .|0.49916 .|N .|0.000124 T|T 0.39306|0.39306 0.1073|0.1073 L|L 0.33245|0.33245 0.995|0.995 0.40849|0.40849 D|D 0.983738|0.983738 .|B;B;D;B .|0.53312 .|0.289;0.156;0.959;0.153 .|B;B;P;B .|0.52823 .|0.344;0.158;0.71;0.151 T|T 0.09314|0.09314 -1.0680|-1.0680 5|10 .|0.29301 .|T .|0.29 -18.2132|-18.2132 8.8586|8.8586 0.35242|0.35242 0.8456:0.0:0.1544:0.0|0.8456:0.0:0.1544:0.0 .|. .|137;121;104;137 .|B4E3G8;E5RJS5;E7EP84;Q15390 .|.;.;.;MTFR1_HUMAN V|S 95|121;137;104 .|ENSP00000262146:N137S;ENSP00000391502:N104S .|ENSP00000262146:N137S M|N +|+ 1|2 0|0 MTFR1|MTFR1 66779611|66779611 0.998000|0.998000 0.40836|0.40836 0.020000|0.020000 0.16555|0.16555 0.299000|0.299000 0.27559|0.27559 3.773000|3.773000 0.55333|0.55333 0.372000|0.372000 0.24591|0.24591 0.460000|0.460000 0.39030|0.39030 ATG|AAT MTFR1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378894.1 + ENST00000262146.4 Missense_Mutation SNP PCPG-TCGA-QR-A70H-Normal-SM-5EQGO OR8D1 283159 broad.mit.edu 37 11 124180178 124180178 + Missense_Mutation SNP G G A TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr11:124180178G>A ENST00000357821.2 - 1.0 555 c.485C>T c.(484-486)gCc>gTc p.A162V NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 162.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16.0 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) TTTCATCATGGCACTTGTATG 0.468 0 72.0 63.0 66.0 11 124180178.0 2201.0 4299.0 6500.0 SO:0001583 missense AF238489 CCDS31706.1 11q25 2012-08-09 ENSG00000196341 ENSG00000196341 283159.0 283159.0 """GPCR / Class A : Olfactory receptors""" 8481.0 protein-coding gene gene with protein product OR8D3 Standard NM_001002917 NM_001002917 Approved OST004 uc010sag.2 Q8WZ84 OTTHUMG00000165977 ENST00000357821.2:c.485C>T 11.__UNKNOWN__:g.124180178G>A ENSP00000350474:p.Ala162Val B2RNL4|Q6IEW1|Q8NGH0 __UNKNOWN__ CCDS31706.1 . . . . . . . . . . g 10.74 1.436325 0.25813 . . ENSG00000196341 ENST00000357821 T 0.00031 8.89 4.29 -0.275 0.12906 GPCR, rhodopsin-like superfamily (1); 0.802027 0.10068 U 0.720104 T 0.00073 0.0002 N 0.12611 0.24 0.09310 N 1 B 0.12013 0.005 B 0.15870 0.014 T 0.06285 -1.0835 10 0.54805 T 0.06 . 6.1175 0.20134 0.2383:0.4027:0.359:0.0 . 162 Q8WZ84 OR8D1_HUMAN V 162 ENSP00000350474:A162V ENSP00000350474:A162V A - 2 0 OR8D1 123685388 0.000000 0.05858 0.004000 0.12327 0.014000 0.08584 0.010000 0.13242 0.091000 0.17302 -0.429000 0.05907 GCC OR8D1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387285.1 - ENST00000357821.2 Missense_Mutation SNP PCPG-TCGA-QR-A70H-Normal-SM-5EQGO DNAH9 1770 broad.mit.edu 37 17 11593519 11593519 + Silent SNP C C T rs61732566 byFrequency TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr17:11593519C>T ENST00000454412.2 + 20.0 4380 c.4380C>T c.(4378-4380)ccC>ccT p.P1460P DNAH9_ENST00000262442.4_Silent_p.P1460P Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1460.0 Stem. {ECO:0000250}. cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283) axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774) 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) 290.0 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) CCAATGTCCCCCTCCTGTGCT 0.498 C 6.0 0.0027 0.01 2184.0 1.0 , , 0.0003 0.0027 0.992 LOWCOV,EXOME 0.0008 SNP 0 C 60,4346 57.4+/-93.9 0,60,2143 83.0 82.0 83.0 4380 -0.8 0.3 17 dbSNP_129 83.0 0,8600 0,0,4300 no coding-synonymous DNAH9 NM_001372.3 0,60,6443 TT,TC,CC 0.0,1.3618,0.4613 1460/4487 11593519.0 60,12946 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U61740 CCDS11160.1, CCDS11161.1 17p12 2009-05-07 2006-09-04 ENSG00000007174 ENSG00000007174 1770.0 1770.0 """Axonemal dyneins""" 2953.0 protein-coding gene gene with protein product 603330.0 """dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9""" DNAH17L 8812413, 11247663 Standard NM_001372 NM_001372 Approved Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9 uc002gne.3 Q9NYC9 OTTHUMG00000130383 ENST00000454412.2:c.4380C>T 17.__UNKNOWN__:g.11593519C>T A2VCQ8|O15064|O95494|Q9NQ28 __UNKNOWN__ DNAH9-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000252758.4 + ENST00000454412.2 Silent SNP PCPG-TCGA-QR-A70H-Normal-SM-5EQGO HNRNPUL2 221092 broad.mit.edu 37 11 62488846 62488846 + Frame_Shift_Del DEL A A - TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr11:62488846delA ENST00000301785.5 - 9.0 1724 c.1532delT c.(1531-1533)ttafs p.L511fs HNRNPUL2-BSCL2_ENST00000403734.2_Frame_Shift_Del_p.L511fs NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 511.0 membrane (GO:0016020)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20.0 TTGCTGAACTAAAAGGTCTCG 0.413 0 172.0 178.0 176.0 11 62488846.0 1856.0 4094.0 5950.0 SO:0001589 frameshift_variant CCDS41659.1 11q12 2013-07-16 2008-04-18 ENSG00000214753 ENSG00000214753 221092.0 221092.0 25451.0 protein-coding gene gene with protein product HNRPUL2 Standard XM_495877 NM_001079559 Approved DKFZp762N1910 uc001nuw.3 Q1KMD3 OTTHUMG00000167773 ENST00000301785.5:c.1532delT 11.__UNKNOWN__:g.62488846delA ENSP00000301785:p.Leu511fs Q8N3B3 __UNKNOWN__ CCDS41659.1 HNRNPUL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000396208.2 - ENST00000301785.5 Frame_Shift_Del DEL PCPG-TCGA-QR-A70H-Normal-SM-5EQGO KIF23 9493 bcgsc.ca 37 15 69732827 69732827 + Splice_Site SNP G G A TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr15:69732827G>A ENST00000395392.2 + 17.0 2240 c.e17+1 KIF23_ENST00000559279.1_Splice_Site|KIF23_ENST00000352331.4_Splice_Site|KIF23_ENST00000558585.1_Splice_Site|KIF23_ENST00000537891.1_Splice_Site|KIF23_ENST00000260363.4_Splice_Site Q02241 KIF23_HUMAN kinesin family member 23 antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256) centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777) central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21.0 ACCTGTGCCTGTAAGTTATTT 0.348 0 57.0 60.0 59.0 15 69732827.0 2181.0 4289.0 6470.0 SO:0001630 splice_region_variant X67155 CCDS32278.1, CCDS32279.1 15q23 2008-03-03 2003-01-13 2003-01-17 ENSG00000137807 9493.0 9493.0 """Kinesins""" 6392.0 protein-coding gene gene with protein product 605064 """kinesin-like 5 (mitotic kinesin-like protein 1)""" KNSL5 1406973 Standard NM_138555 Approved MKLP1, MKLP-1 uc002asb.3 Q02241 ENST00000395392.2:c.2067+1G>A 15.__UNKNOWN__:g.69732827G>A Q8WVP0 __UNKNOWN__ . . . . . . . . . . G 14.98 2.696320 0.48202 . . ENSG00000137807 ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891 . . . 5.32 5.32 0.75619 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 18.3343 0.90282 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . KIF23 67519881 1.000000 0.71417 0.951000 0.38953 0.196000 0.23810 9.695000 0.98691 2.641000 0.89580 0.591000 0.81541 . KIF23-006 NOVEL not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000416675.1 Intron + ENST00000395392.2 Splice_Site SNP PCPG-TCGA-QR-A70H-Normal-SM-5EQGO OR5AC1 81431 bcgsc.ca 37 3 97783674 97783674 + RNA SNP T T C TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr3:97783674T>C ENST00000429239.1 + 0.0 359 P0C628 O5AC1_HUMAN olfactory receptor, family 5, subfamily AC, member 1 (gene/pseudogene) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) AGTGATGGCCTATGACCGCTA 0.408 0 3q11.2 2013-09-05 2008-06-11 2008-06-11 ENSG00000213439 ENSG00000213439 81431.0 81431.0 """GPCR / Class A : Olfactory receptors""" 15047.0 protein-coding gene gene with protein product """olfactory receptor, family 5, subfamily AC, member 1 pseudogene""" OR5AC1P Standard NG_004267 Approved P0C628 OTTHUMG00000154300 ENST00000429239.1: 3.__UNKNOWN__:g.97783674T>C __UNKNOWN__ OR5AC1-001 KNOWN basic polymorphic_pseudogene polymorphic_pseudogene OTTHUMT00000334747.2 + ENST00000429239.1 RNA SNP PCPG-TCGA-QR-A70H-Normal-SM-5EQGO ROBO4 54538 broad.mit.edu 37 11 124761327 124761327 + Missense_Mutation SNP G G A TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chr11:124761327G>A ENST00000306534.3 - 12.0 2301 c.1816C>T c.(1816-1818)Cgc>Tgc p.R606C RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 606.0 angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334) external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) receptor activity (GO:0004872) 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) 76.0 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GGTGGGAGGCGCCTGACAGCT 0.662 0 26.0 32.0 30.0 11 124761327.0 2201.0 4299.0 6500.0 SO:0001583 missense AF361473 CCDS8455.1, CCDS73409.1 11q24.2 2013-02-11 2011-12-09 ENSG00000154133 ENSG00000154133 54538.0 54538.0 """Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 17985.0 protein-coding gene gene with protein product """magic roundabout""" 607528.0 """roundabout homolog 4 (Drosophila)""" 11076864 Standard NM_019055 NM_019055 Approved FLJ20798, MRB, ECSM4 uc001qbg.3 Q8WZ75 OTTHUMG00000165936 ENST00000306534.3:c.1816C>T 11.__UNKNOWN__:g.124761327G>A ENSP00000304945:p.Arg606Cys A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8 __UNKNOWN__ CCDS8455.1 . . . . . . . . . . G 8.823 0.937980 0.18206 . . ENSG00000154133 ENST00000306534;ENST00000374963;ENST00000533054 T;T 0.64991 -0.13;0.24 6.11 1.95 0.26073 . 0.389841 0.19154 N 0.121379 T 0.52468 0.1736 M 0.65975 2.015 0.34129 D 0.665067 B;B;B 0.13145 0.007;0.001;0.004 B;B;B 0.08055 0.002;0.001;0.003 T 0.52094 -0.8621 10 0.33141 T 0.24 . 4.1764 0.10353 0.2735:0.0:0.5689:0.1575 . 606;496;606 Q8WZ75-2;Q8WZ75-3;Q8WZ75 .;.;ROBO4_HUMAN C 606;496;461 ENSP00000304945:R606C;ENSP00000437129:R461C ENSP00000304945:R606C R - 1 0 ROBO4 124266537 0.937000 0.31787 0.452000 0.26994 0.311000 0.27955 0.378000 0.20569 0.419000 0.25927 -0.137000 0.14449 CGC ROBO4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387111.1 - ENST00000306534.3 Missense_Mutation SNP PCPG-TCGA-QR-A70I-Normal-SM-5EQGF VCPIP1 80124 broad.mit.edu 37 8 67577499 67577499 + Silent SNP A A G TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chr8:67577499A>G ENST00000310421.4 - 1.0 1953 c.1695T>C c.(1693-1695)tcT>tcC p.S565S NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 565.0 endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794) ubiquitin-specific protease activity (GO:0004843) breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45.0 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) CAGTGGACCTAGAATTAGTTC 0.433 NSCLC(179;265 2915 6144 43644) 0 157.0 136.0 143.0 8 67577499.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB058753 CCDS6192.1 8q13 2014-02-24 ENSG00000175073 ENSG00000175073 80124.0 80124.0 """OTU domain containing""" 30897.0 protein-coding gene gene with protein product 611745.0 11347906, 12509440 Standard NM_025054 Approved VCIP135, KIAA1850, FLJ23132, DUBA3 uc003xwn.3 Q96JH7 OTTHUMG00000164560 ENST00000310421.4:c.1695T>C 8.__UNKNOWN__:g.67577499A>G Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8 __UNKNOWN__ CCDS6192.1 VCPIP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000379227.1 - ENST00000310421.4 Silent SNP PCPG-TCGA-QR-A70I-Normal-SM-5EQGF OBSCN 84033 broad.mit.edu 37 1 228464238 228464238 + Missense_Mutation SNP C C T TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chr1:228464238C>T ENST00000570156.2 + 26.0 7507 c.7433C>T c.(7432-7434)gCg>gTg p.A2478V OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A2103V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.A950V|OBSCN_ENST00000284548.11_Missense_Mutation_p.A2103V NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1469.0 Ig-like 24. apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018) ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432) 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) 223.0 Prostate(94;0.0405) CTGTCGCATGCGGACGTGGAT 0.692 0 28.0 36.0 33.0 1 228464238.0 2164.0 4258.0 6422.0 SO:0001583 missense AJ002535 CCDS1570.2, CCDS58065.1, CCDS59204.1 1q42 2014-09-17 ENSG00000154358 ENSG00000154358 84033.0 84033.0 """Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 15719.0 protein-coding gene gene with protein product 608616.0 11448995, 11814696 Standard NM_052843 NM_001098623 Approved KIAA1556, UNC89, KIAA1639, ARHGEF30 uc001hsq.2 Q5VST9 OTTHUMG00000039772 ENST00000570156.2:c.7433C>T 1.__UNKNOWN__:g.228464238C>T ENSP00000455507:p.Ala2478Val Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6 __UNKNOWN__ CCDS59204.1 . . . . . . . . . . C 10.55 1.382574 0.25031 . . ENSG00000154358 ENST00000284548;ENST00000422127;ENST00000359599 T;T;T 0.04862 3.54;3.54;3.54 5.14 2.05 0.26809 Immunoglobulin subtype (1);Immunoglobulin-like fold (1); 0.912604 0.09243 N 0.828864 T 0.10723 0.0262 L 0.48642 1.525 0.20403 N 0.999903 P;D 0.69078 0.87;0.997 B;P 0.55345 0.069;0.774 T 0.28004 -1.0057 10 0.41790 T 0.15 . 2.7294 0.05223 0.4473:0.2988:0.1614:0.0926 . 2103;2103 Q5VST9;Q5VST9-3 OBSCN_HUMAN;. V 2103;2103;950 ENSP00000284548:A2103V;ENSP00000409493:A2103V;ENSP00000352613:A950V ENSP00000284548:A2103V A + 2 0 OBSCN 226530861 0.000000 0.05858 0.000000 0.03702 0.013000 0.08279 0.031000 0.13710 0.534000 0.28695 0.549000 0.68633 GCG OBSCN-011 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000421354.3 + ENST00000570156.2 Missense_Mutation SNP PCPG-TCGA-QR-A70I-Normal-SM-5EQGF AKAP9 10142 broad.mit.edu 37 7 91623993 91623993 + Missense_Mutation SNP C C A TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chr7:91623993C>A ENST00000356239.3 + 6.0 868 c.635C>A c.(634-636)gCt>gAt p.A212D AKAP9_ENST00000359028.2_Missense_Mutation_p.A224D|AKAP9_ENST00000394564.1_Missense_Mutation_p.A212D|AKAP9_ENST00000358100.2_Missense_Mutation_p.A224D NM_005751.4|NM_147185.2 NP_005742.4|NP_671714.1 Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 224.0 Gln-rich. G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076) ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102) 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) 155.0 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) CAGCTCACTGCTAATTTACAA 0.313 T BRAF papillary thyroid Dom yes 7 7q21-q22 10142.0 A kinase (PRKA) anchor protein (yotiao) 9 E 0 56.0 57.0 56.0 7 91623993.0 2203.0 4296.0 6499.0 SO:0001583 missense AF091711 CCDS5622.1 7q21-q22 2014-09-17 2013-09-25 ENSG00000127914 ENSG00000127914 10142.0 10142.0 """A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 379.0 protein-coding gene gene with protein product """A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao""" 604001.0 9482789, 10390370, 24475373 Standard NM_005751 NM_147185 Approved KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11 uc003ulg.3 Q99996 OTTHUMG00000131127 ENST00000356239.3:c.635C>A 7.__UNKNOWN__:g.91623993C>A ENSP00000348573:p.Ala212Asp A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2 __UNKNOWN__ CCDS5622.1 . . . . . . . . . . C 20.2 3.948720 0.73787 . . ENSG00000127914 ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564;ENST00000438114 T;T;T;T;T 0.40756 1.02;1.02;1.02;1.02;1.02 4.94 4.94 0.65067 . 0.000000 0.35838 N 0.002956 T 0.51584 0.1683 N 0.19112 0.55 0.43824 D 0.996397 D;D;D;D 0.76494 0.999;0.999;0.999;0.996 D;D;D;P 0.78314 0.971;0.991;0.976;0.866 T 0.58381 -0.7646 10 0.66056 D 0.02 . 18.5538 0.91075 0.0:1.0:0.0:0.0 . 212;212;224;212 Q99996-2;Q99996-3;A4D1E4;Q6PJH3 .;.;.;. D 212;224;224;224;224;212;163 ENSP00000348573:A212D;ENSP00000351922:A224D;ENSP00000350813:A224D;ENSP00000378065:A212D;ENSP00000391704:A163D ENSP00000348573:A212D A + 2 0 AKAP9 91461929 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.228000 0.78079 2.440000 0.82611 0.655000 0.94253 GCT AKAP9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253808.2 + ENST00000356239.3 Missense_Mutation SNP PCPG-TCGA-QR-A70I-Normal-SM-5EQGF JAK2 3717 broad.mit.edu 37 9 5069080 5069080 + Missense_Mutation SNP A A C TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chr9:5069080A>C ENST00000381652.3 + 11.0 1879 c.1385A>C c.(1384-1386)tAc>tCc p.Y462S JAK2_ENST00000544510.1_Missense_Mutation_p.Y313S|JAK2_ENST00000539801.1_Missense_Mutation_p.Y462S NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 462.0 SH2; atypical. {ECO:0000255|PROSITE- ProRule:PRU00191}. actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506) caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634) ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169) 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) 32998.0 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) Ruxolitinib(DB08877)|Tofacitinib(DB08895) AATGAAGAGTACAACCTCAGT 0.328 1.0 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial Dom yes 9 9p24 3717.0 Janus kinase 2 L 0 76.0 77.0 77.0 9 5069080.0 2203.0 4299.0 6502.0 SO:0001583 missense Familial Cancer Database CCDS6457.1 9p24 2014-09-17 2009-04-23 ENSG00000096968 ENSG00000096968 3717.0 3717.0 2.7.10.1 """SH2 domain containing""" 6192.0 protein-coding gene gene with protein product 147796.0 1848670 Standard NM_004972 Approved JTK10 uc003ziw.3 O60674 OTTHUMG00000019490 ENST00000381652.3:c.1385A>C 9.__UNKNOWN__:g.5069080A>C ENSP00000371067:p.Tyr462Ser O14636|O75297 __UNKNOWN__ CCDS6457.1 . . . . . . . . . . A 13.00 2.106533 0.37145 . . ENSG00000096968 ENST00000539801;ENST00000381652;ENST00000544510 D;D;D 0.90069 -2.61;-2.61;-2.61 5.02 2.24 0.28232 SH2 motif (4); 0.182599 0.49916 D 0.000140 D 0.87450 0.6180 M 0.62723 1.935 0.45318 D 0.998317 B 0.22480 0.07 B 0.32583 0.148 D 0.84949 0.0870 10 0.87932 D 0 -5.9771 11.045 0.47852 0.7394:0.0:0.0:0.2606 . 462 O60674 JAK2_HUMAN S 462;462;313 ENSP00000440387:Y462S;ENSP00000371067:Y462S;ENSP00000443103:Y313S ENSP00000371067:Y462S Y + 2 0 JAK2 5059080 1.000000 0.71417 0.998000 0.56505 0.771000 0.43674 1.520000 0.35899 0.708000 0.31955 0.482000 0.46254 TAC JAK2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051609.1 + ENST00000381652.3 Missense_Mutation SNP PCPG-TCGA-QR-A70I-Normal-SM-5EQGF C16orf70 80262 broad.mit.edu 37 16 67168285 67168285 + Silent SNP C C T TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chr16:67168285C>T ENST00000219139.3 + 8.0 764 c.576C>T c.(574-576)ttC>ttT p.F192F C16orf70_ENST00000569600.1_Silent_p.F192F|C16orf70_ENST00000569683.1_3'UTR NM_025187.3 NP_079463.2 Q9BSU1 CP070_HUMAN chromosome 16 open reading frame 70 192.0 cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17.0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) TGAGCTGTTTCCTGGGCAATG 0.532 0 306.0 294.0 298.0 16 67168285.0 2200.0 4300.0 6500.0 SO:0001819 synonymous_variant AK022138 CCDS10828.1 16q22.1 2011-01-25 2006-04-12 2006-04-12 ENSG00000125149 ENSG00000125149 80262.0 80262.0 29564.0 protein-coding gene gene with protein product """chromosome 16 open reading frame 6""" C16orf6, LIN10 12477932 Standard NM_025187 NM_025187 Approved lin-10, FLJ12076 uc002erd.3 Q9BSU1 OTTHUMG00000137510 ENST00000219139.3:c.576C>T 16.__UNKNOWN__:g.67168285C>T Q9HA86 __UNKNOWN__ CCDS10828.1 C16orf70-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268829.2 + ENST00000219139.3 Silent SNP PCPG-TCGA-QR-A70I-Normal-SM-5EQGF MYBPH 4608 ucsc.edu 37 1 203140516 203140516 + Missense_Mutation SNP A A G TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chr1:203140516A>G ENST00000255416.4 - 5.0 845 c.788T>C c.(787-789)gTg>gCg p.V263A NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 263.0 cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942) myosin filament (GO:0032982) structural constituent of muscle (GO:0008307) endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1) 20.0 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) CATACCAATCACCAGGATGTC 0.612 NSCLC(32;174 1025 14462 23899 42933) 0 63.0 47.0 52.0 1 203140516.0 2203.0 4300.0 6503.0 SO:0001583 missense BC044226 CCDS30975.1 1q32.1 2013-02-11 2001-11-28 ENSG00000133055 ENSG00000133055 4608.0 4608.0 """Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 7552.0 protein-coding gene gene with protein product 160795 """myosin-binding protein H""" 8486381 Standard NM_004997 NM_004997 Approved uc001gzh.1 Q13203 OTTHUMG00000042121 ENST00000255416.4:c.788T>C 1.__UNKNOWN__:g.203140516A>G ENSP00000255416:p.Val263Ala Q16886|Q86YC5 __UNKNOWN__ CCDS30975.1 . . . . . . . . . . A 25.6 4.649941 0.87958 . . ENSG00000133055 ENST00000255416 T 0.65916 -0.18 4.82 4.82 0.62117 Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like fold (1); 0.000000 0.48286 D 0.000183 D 0.84316 0.5445 M 0.93150 3.385 0.47698 D 0.999495 P 0.36587 0.559 P 0.60173 0.87 D 0.87251 0.2273 10 0.87932 D 0 . 14.8451 0.70254 1.0:0.0:0.0:0.0 . 263 Q13203 MYBPH_HUMAN A 263 ENSP00000255416:V263A ENSP00000255416:V263A V - 2 0 MYBPH 201407139 1.000000 0.71417 1.000000 0.80357 0.706000 0.40770 8.626000 0.90969 2.149000 0.67028 0.533000 0.62120 GTG MYBPH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000100264.1 - ENST00000255416.4 Missense_Mutation SNP PCPG-TCGA-QR-A70I-Normal-SM-5EQGF RNF213 57674 ucsc.edu 37 17 78264517 78264517 + Missense_Mutation SNP C C G TCGA-QR-A70I-01A-11D-A35D-08 TCGA-QR-A70I-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 511408e9-fa79-4e82-bc2f-b4c0ec0b9882 247885fd-4d02-4b07-a03b-d969f8937718 g.chr17:78264517C>G ENST00000508628.2 + 8.0 1553 c.1408C>G c.(1408-1410)Cac>Gac p.H470D RNF213_ENST00000582970.1_Missense_Mutation_p.H421D|RNF213_ENST00000456466.1_Missense_Mutation_p.H421D|RNF213_ENST00000319921.4_Missense_Mutation_p.H421D Q63HN8 RN213_HUMAN ring finger protein 213 421.0 ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567) cytoplasm (GO:0005737)|membrane (GO:0016020) ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) 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) 130.0 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CTGTGAGCTGCACTACACCAG 0.458 0 96.0 70.0 78.0 17 78264517.0 2203.0 4300.0 6503.0 SO:0001583 missense AK074030 CCDS58606.1 17q25.3 2013-01-09 2007-02-08 2007-02-08 ENSG00000173821 57674.0 57674.0 """RING-type (C3HC4) zinc fingers""" 14539.0 protein-coding gene gene with protein product 613768 """chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2""" C17orf27, KIAA1618, MYMY2 10997877, 21048783, 21799892 Standard NM_020914 NM_020954 Approved KIAA1554, NET57 uc021uen.2 Q63HN8 ENST00000508628.2:c.1408C>G 17.__UNKNOWN__:g.78264517C>G ENSP00000425956:p.His470Asp C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8 __UNKNOWN__ . . . . . . . . . . C 7.185 0.590375 0.13812 . . ENSG00000173821 ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921 . . . 4.62 -7.45 0.01374 . 1.609970 0.03810 N 0.265858 T 0.34250 0.0891 L 0.29908 0.895 0.40663 D 0.982146 B;B 0.34015 0.144;0.435 B;B 0.33042 0.082;0.157 T 0.14727 -1.0462 9 0.37606 T 0.19 -4.9391 5.4478 0.16546 0.3712:0.151:0.0:0.4778 . 421;421 Q9HCF4;Q9HCF4-2 ALO17_HUMAN;. D 421;470;421;421 . ENSP00000324392:H421D H + 1 0 RNF213 75879112 0.000000 0.05858 0.003000 0.11579 0.042000 0.13812 -2.619000 0.00879 -1.391000 0.02085 -0.369000 0.07265 CAC RNF213-001 NOVEL basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000364861.3 + ENST00000508628.2 Missense_Mutation SNP PCPG-TCGA-QR-A70I-Normal-SM-5EQGF TACC2 10579 broad.mit.edu 37 10 123970864 123970864 + Silent SNP C C A rs116727041 by1000genomes TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr10:123970864C>A ENST00000260733.3 + 3.0 1239 c.1158C>A c.(1156-1158)ccC>ccA p.P386P TACC2_ENST00000368999.1_Silent_p.P386P|TACC2_ENST00000360561.3_Silent_p.P386P|TACC2_ENST00000334433.3_Silent_p.P2308P|TACC2_ENST00000369000.1_Silent_p.P12P|TACC2_ENST00000513429.1_Silent_p.P454P|TACC2_ENST00000515273.1_Silent_p.P2312P|TACC2_ENST00000369004.3_Silent_p.P386P|TACC2_ENST00000453444.2_Silent_p.P2312P|TACC2_ENST00000369005.1_Silent_p.P2308P|TACC2_ENST00000515603.1_Silent_p.P2263P|TACC2_ENST00000369001.1_Silent_p.P12P|TACC2_ENST00000358010.1_Silent_p.P454P NM_006997.2 NP_008928.1 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2308.0 astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634) nuclear hormone receptor binding (GO:0035257) 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) 83.0 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AAAAGACACCCGAGAAACTTG 0.488 0 109.0 110.0 110.0 10 123970864.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF095791 CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1 10q26 2008-07-29 ENSG00000138162 ENSG00000138162 10579.0 10579.0 11523.0 protein-coding gene gene with protein product 605302.0 14767476 Standard XM_005269388 Approved AZU-1 uc001lfv.3 O95359 OTTHUMG00000019181 ENST00000260733.3:c.1158C>A 10.__UNKNOWN__:g.123970864C>A Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5 __UNKNOWN__ CCDS7627.1 TACC2-008 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000050774.1 + ENST00000260733.3 Silent SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 MEFV 4210 broad.mit.edu 37 16 3293277 3293277 + Missense_Mutation SNP C C A rs139092123 by1000genomes TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr16:3293277C>A ENST00000339854.4 - 10.0 1709 c.1670G>T c.(1669-1671)aGa>aTa p.R557I MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.R526I|MEFV_ENST00000219596.1_Missense_Mutation_p.R737I O15553 MEFV_HUMAN Mediterranean fever 737.0 Required for homotrimerization and induction of pyroptosomes. inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056) cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634) actin binding (GO:0003779)|zinc ion binding (GO:0008270) NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50.0 GATGTGGGATCTGGCTGTCAC 0.542 C 1.0 0.0005 0.002 2184.0 1.0 , , 0.0003 0.0005 1.0 EXOME 0.0007 SNP 0 112.0 105.0 108.0 16 3293277.0 2197.0 4300.0 6497.0 SO:0001583 missense AF018080 CCDS10498.1, CCDS55981.1 16p13.3 2014-09-17 ENSG00000103313 ENSG00000103313 4210.0 4210.0 """Tripartite motif containing / Tripartite motif containing""" 6998.0 protein-coding gene gene with protein product """pyrin""" 608107.0 MEF 9288094 Standard NM_000243 NM_000243 Approved FMF, TRIM20 uc002cun.1 O15553 OTTHUMG00000129324 ENST00000339854.4:c.1670G>T 16.__UNKNOWN__:g.3293277C>A ENSP00000339639:p.Arg557Ile D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5 __UNKNOWN__ 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 C 11.35 1.614053 0.28712 . . ENSG00000103313 ENST00000219596;ENST00000339854;ENST00000536379 T;T;T 0.69435 -0.4;-0.4;-0.4 5.23 2.79 0.32731 Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1); 0.246708 0.28612 N 0.014738 T 0.64068 0.2565 L 0.44542 1.39 0.09310 N 1 D 0.56968 0.978 P 0.56398 0.797 T 0.54860 -0.8230 10 0.54805 T 0.06 -13.8188 2.8979 0.05696 0.2583:0.4849:0.0:0.2568 . 737 O15553 MEFV_HUMAN I 737;557;526 ENSP00000219596:R737I;ENSP00000339639:R557I;ENSP00000445079:R526I ENSP00000219596:R737I R - 2 0 MEFV 3233278 0.000000 0.05858 0.679000 0.29978 0.193000 0.23685 -0.023000 0.12456 1.106000 0.41623 0.650000 0.86243 AGA MEFV-010 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000398510.1 - ENST00000339854.4 Missense_Mutation SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 FAM86DP 0 broad.mit.edu 37 3 75476706 75476706 + RNA SNP C C T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr3:75476706C>T ENST00000459803.1 - 0.0 650 NR_024241.1 family with sequence similarity 86, member D, pseudogene TAATGAGAGGCCATTGAGAAG 0.602 0 BC016686 3p12.3 2010-06-04 2010-06-04 2010-06-04 ENSG00000244026 ENSG00000244026 692099.0 692099.0 32659.0 pseudogene pseudogene """family with sequence similarity 86, member D""" FAM86D Standard NR_024241 NR_024241 Approved uc003dpp.4 OTTHUMG00000158855 ENST00000459803.1: 3.__UNKNOWN__:g.75476706C>T __UNKNOWN__ FAM86DP-003 KNOWN basic processed_transcript pseudogene OTTHUMT00000352425.1 - ENST00000459803.1 RNA SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 MMRN1 22915 broad.mit.edu 37 4 90816482 90816482 + Silent SNP C C T rs142099842 TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr4:90816482C>T ENST00000394980.1 + 2.0 679 c.360C>T c.(358-360)aaC>aaT p.N120N MMRN1_ENST00000264790.2_Silent_p.N120N|MMRN1_ENST00000394981.1_Silent_p.N86N Q13201 MMRN1_HUMAN multimerin 1 120.0 blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576) extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093) 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) 72.0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TCCCAACCAACGCTAGCATCA 0.438 0 C 1,4405 2.1+/-5.4 0,1,2202 127.0 122.0 124.0 360 -4.2 0.0 4 dbSNP_134 124.0 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous MMRN1 NM_007351.2 0,2,6501 TT,TC,CC 0.0116,0.0227,0.0154 120/1229 90816482.0 2,13004 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U27109 CCDS3635.1 4q22 2008-02-05 2004-03-02 2004-03-02 ENSG00000138722 ENSG00000138722 22915.0 22915.0 """EMI domain containing""" 7178.0 protein-coding gene gene with protein product """glycoprotein Ia*""" 601456.0 """multimerin""" MMRN 7629143, 10828608 Standard NM_007351 NM_007351 Approved ECM, EMILIN4, GPIa* uc003hst.3 Q13201 OTTHUMG00000130947 ENST00000394980.1:c.360C>T 4.__UNKNOWN__:g.90816482C>T Q4W5L1|Q6P3T8|Q6ZUL9 __UNKNOWN__ CCDS3635.1 MMRN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253546.2 + ENST00000394980.1 Silent SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 IGKV1-5 0 broad.mit.edu 37 2 89246997 89246997 + RNA SNP T T C TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr2:89246997T>C ENST00000496168.1 - 0.0 353 P01602 KV110_HUMAN immunoglobulin kappa variable 1-5 complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) antigen binding (GO:0003823) TTTCTGCTGATACCAGGCCAA 0.532 0 121.0 115.0 117.0 2 89246997.0 1928.0 4117.0 6045.0 Z00001 2p11.2 2012-02-08 ENSG00000243466 ENSG00000243466 28299.0 28299.0 """Immunoglobulins / IGK locus""" 5741.0 other immunoglobulin gene Standard NG_000834 NG_000834 Approved P01602 OTTHUMG00000151560 ENST00000496168.1: 2.__UNKNOWN__:g.89246997T>C __UNKNOWN__ IGKV1-5-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene IG_V_gene OTTHUMT00000323135.1 - ENST00000496168.1 RNA SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 KDM6B 23135 broad.mit.edu 37 17 7756355 7756355 + Missense_Mutation SNP C C G TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr17:7756355C>G ENST00000254846.5 + 21.0 5037 c.4648C>G c.(4648-4650)Caa>Gaa p.Q1550E KDM6B_ENST00000448097.2_Missense_Mutation_p.Q1550E NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 1550.0 cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) nucleoplasm (GO:0005654)|nucleus (GO:0005634) dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565) 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) 37.0 CTGCCAGGTGCAACGCGAGAG 0.627 0 91.0 80.0 84.0 17 7756355.0 2203.0 4300.0 6503.0 SO:0001583 missense AB002344 CCDS32552.1 17p13.1 2011-07-01 2009-04-17 2009-04-17 ENSG00000132510 23135.0 23135.0 """Chromatin-modifying enzymes / K-demethylases""" 29012.0 protein-coding gene gene with protein product 611577.0 """jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase""" JMJD3 10662545, 9205841 Standard XM_043272 NM_001080424 Approved KIAA0346 uc002giw.1 O15054 ENST00000254846.5:c.4648C>G 17.__UNKNOWN__:g.7756355C>G ENSP00000254846:p.Gln1550Glu C9IZ40|Q96G33 __UNKNOWN__ CCDS32552.1 . . . . . . . . . . C 13.67 2.307829 0.40795 . . ENSG00000132510 ENST00000254846;ENST00000448097 T;T 0.28666 1.6;1.6 5.28 5.28 0.74379 . 0.073162 0.56097 D 0.000032 T 0.37945 0.1022 L 0.29908 0.895 0.51767 D 0.999939 P;D 0.57257 0.528;0.979 B;P 0.53593 0.355;0.73 T 0.18116 -1.0347 10 0.72032 D 0.01 -12.2212 18.0612 0.89378 0.0:1.0:0.0:0.0 . 1550;1550 O15054;O15054-1 KDM6B_HUMAN;. E 1550 ENSP00000254846:Q1550E;ENSP00000412513:Q1550E ENSP00000254846:Q1550E Q + 1 0 KDM6B 7697080 0.983000 0.35010 0.954000 0.39281 0.106000 0.19336 7.326000 0.79133 2.643000 0.89663 0.462000 0.41574 CAA KDM6B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000440247.1 + ENST00000254846.5 Missense_Mutation SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 MYPN 84665 broad.mit.edu 37 10 69882049 69882049 + Missense_Mutation SNP G G A TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr10:69882049G>A ENST00000358913.5 + 2.0 1342 c.854G>A c.(853-855)cGa>cAa p.R285Q MYPN_ENST00000373675.3_Missense_Mutation_p.R285Q|MYPN_ENST00000540630.1_Missense_Mutation_p.R285Q|MYPN_ENST00000354393.2_Intron NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 285.0 Ig-like 1.|Interaction with CARP. sarcomere organization (GO:0045214) I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018) cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124) 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) 94.0 GAAGGAACTCGAGTACAGTTG 0.468 0 68.0 72.0 71.0 10 69882049.0 2203.0 4300.0 6503.0 SO:0001583 missense AL834247 CCDS7275.1, CCDS73142.1 10q22.1 2014-09-17 ENSG00000138347 ENSG00000138347 84665.0 84665.0 """Immunoglobulin superfamily / I-set domain containing""" 23246.0 protein-coding gene gene with protein product """sarcomeric protein myopalladin, 145 kDa""" 608517.0 11309420, 12482578 Standard NM_032578 NM_032578 Approved MYOP uc001jnm.5 Q86TC9 OTTHUMG00000018344 ENST00000358913.5:c.854G>A 10.__UNKNOWN__:g.69882049G>A ENSP00000351790:p.Arg285Gln Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5 __UNKNOWN__ CCDS7275.1 . . . . . . . . . . G 20.7 4.026773 0.75390 . . ENSG00000138347 ENST00000358913;ENST00000540630;ENST00000373675 T;T;T 0.66815 -0.23;-0.23;-0.23 5.78 5.78 0.91487 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.059185 0.64402 D 0.000002 T 0.46249 0.1383 N 0.11131 0.1 0.37068 D 0.898401 D;D 0.57899 0.981;0.958 P;B 0.44696 0.458;0.353 T 0.51244 -0.8730 9 . . . . 7.5708 0.27907 0.1947:0.0:0.8053:0.0 . 285;285 Q86TC9-3;Q86TC9 .;MYPN_HUMAN Q 285 ENSP00000351790:R285Q;ENSP00000441668:R285Q;ENSP00000362779:R285Q . R + 2 0 MYPN 69552055 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.713000 0.68415 2.722000 0.93159 0.561000 0.74099 CGA MYPN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000048307.1 + ENST00000358913.5 Missense_Mutation SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 CLASP2 23122 broad.mit.edu 37 3 33592821 33592821 + Missense_Mutation SNP T T G TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr3:33592821T>G ENST00000468888.2 - 30.0 3146 c.3100A>C c.(3100-3102)Aat>Cat p.N1034H CLASP2_ENST00000539981.1_Missense_Mutation_p.N803H|CLASP2_ENST00000461133.3_Missense_Mutation_p.N793H|CLASP2_ENST00000399362.4_Missense_Mutation_p.N1033H|CLASP2_ENST00000480013.1_Missense_Mutation_p.N813H|CLASP2_ENST00000359576.5_Missense_Mutation_p.N1025H|CLASP2_ENST00000307312.7_Missense_Mutation_p.N515H O75122 CLAP2_HUMAN cytoplasmic linker associated protein 2 814.0 Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization. axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802) galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010) 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) 48.0 TCACTGGAATTTATAAAATCT 0.408 0 82.0 80.0 80.0 3 33592821.0 1836.0 4078.0 5914.0 SO:0001583 missense AB014527 3p24.3 2013-01-18 ENSG00000163539 ENSG00000163539 23122.0 23122.0 17078.0 protein-coding gene gene with protein product 605853.0 9734811, 10899121 Standard NM_001207044 NM_015097 Approved KIAA0627 uc021wvc.1 O75122 OTTHUMG00000156489 ENST00000468888.2:c.3100A>C 3.__UNKNOWN__:g.33592821T>G ENSP00000419974:p.Asn1034His Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 24.3|24.3 4.515860|4.515860 0.85495|0.85495 .|. .|. ENSG00000163539|ENSG00000163539 ENST00000480385|ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133 .|T;T;T;T;T;T;T .|0.68331 .|-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32 5.27|5.27 5.27|5.27 0.74061|0.74061 .|Armadillo-type fold (1); .|0.000000 .|0.85682 .|D .|0.000000 T|T 0.79227|0.79227 0.4410|0.4410 M|M 0.64997|0.64997 1.995|1.995 0.80722|0.80722 D|D 1|1 .|P;D;P .|0.76494 .|0.911;0.999;0.784 .|B;D;P .|0.83275 .|0.288;0.996;0.465 T|T 0.81302|0.81302 -0.0994|-0.0994 5|10 .|0.72032 .|D .|0.01 -25.2129|-25.2129 14.0437|14.0437 0.64693|0.64693 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. .|814;1025;1033 .|O75122;F5H604;E7ERI8 .|CLAP2_HUMAN;.;. T|H 89|1034;1033;1025;515;803;813;793 .|ENSP00000419974:N1034H;ENSP00000382297:N1033H;ENSP00000352581:N1025H;ENSP00000304743:N515H;ENSP00000439039:N803H;ENSP00000417518:N813H;ENSP00000419305:N793H .|ENSP00000304743:N515H K|N -|- 2|1 0|0 CLASP2|CLASP2 33567825|33567825 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.994000|0.994000 0.84299|0.84299 7.993000|7.993000 0.88291|0.88291 2.106000|2.106000 0.64143|0.64143 0.482000|0.482000 0.46254|0.46254 AAA|AAT CLASP2-001 NOVEL basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000344320.4 - ENST00000468888.2 Missense_Mutation SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 IGHV3-38 0 broad.mit.edu 37 14 106866492 106866492 + RNA SNP A A T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr14:106866492A>T ENST00000390618.2 - 0.0 339 immunoglobulin heavy variable 3-38 (non-functional) TTGTCTCTGGAGATGGTGAAT 0.532 0 203.0 163.0 176.0 14 106866492.0 2197.0 4296.0 6493.0 M99669 14q32.33 2012-02-08 2008-08-22 ENSG00000211958 ENSG00000211958 28429.0 28429.0 """Immunoglobulins / IGH locus""" 5601.0 other immunoglobulin gene """immunoglobulin heavy variable 3-38""" Standard NG_001019 NG_001019 Approved OTTHUMG00000152093 ENST00000390618.2: 14.__UNKNOWN__:g.106866492A>T __UNKNOWN__ IGHV3-38-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene IG_V_gene OTTHUMT00000325190.1 - ENST00000390618.2 RNA SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 C4orf51 646603 broad.mit.edu 37 4 146650336 146650336 + Missense_Mutation SNP G G T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr4:146650336G>T ENST00000438731.1 + 4.0 382 c.382G>T c.(382-384)Gat>Tat p.D128Y NM_001080531.1 NP_001074000.1 C9J302 CD051_HUMAN chromosome 4 open reading frame 51 128.0 haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4) 6.0 TCAAATTTGGGATTTTGGTGA 0.313 0 100.0 94.0 96.0 4 146650336.0 1827.0 4081.0 5908.0 SO:0001583 missense CCDS47140.1 4q31.21 2009-09-09 ENSG00000237136 ENSG00000237136 646603.0 646603.0 37264.0 protein-coding gene gene with protein product Standard NM_001080531 NM_001080531 Approved uc003ikk.3 C9J302 OTTHUMG00000161367 ENST00000438731.1:c.382G>T 4.__UNKNOWN__:g.146650336G>T ENSP00000391404:p.Asp128Tyr __UNKNOWN__ CCDS47140.1 . . . . . . . . . . G 3.195 -0.165003 0.06502 . . ENSG00000237136 ENST00000438731 . . . 2.09 -3.67 0.04476 . . . . . T 0.14787 0.0357 N 0.08118 0 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.16482 -1.0401 8 0.62326 D 0.03 . 2.6003 0.04865 0.2972:0.0:0.2843:0.4185 . 128 C9J302 CD051_HUMAN Y 128 . ENSP00000391404:D128Y D + 1 0 C4orf51 146869786 0.179000 0.23135 0.026000 0.17262 0.114000 0.19823 -0.418000 0.07080 -1.010000 0.03396 -0.225000 0.12378 GAT C4orf51-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding + ENST00000438731.1 Missense_Mutation SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 MRPL24 79590 broad.mit.edu 37 1 156708205 156708205 + Missense_Mutation SNP G G A TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr1:156708205G>A ENST00000361531.2 - 3.0 345 c.209C>T c.(208-210)gCc>gTc p.A70V MRPL24_ENST00000368211.4_Missense_Mutation_p.A70V Q96A35 RM24_HUMAN mitochondrial ribosomal protein L24 70.0 KOW. translation (GO:0006412) mitochondrion (GO:0005739)|ribosome (GO:0005840) structural constituent of ribosome (GO:0003735) endometrium(1)|large_intestine(1)|lung(4) 6.0 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTGCTTCCCGGCATCCTTGCC 0.567 0 211.0 194.0 200.0 1 156708205.0 2203.0 4300.0 6503.0 SO:0001583 missense AB051341 CCDS1155.1 1q23.1 2012-11-14 ENSG00000143314 ENSG00000143314 79590.0 79590.0 """Mitochondrial ribosomal proteins / large subunits""" 14037.0 protein-coding gene gene with protein product 611836.0 Standard NM_145729 NM_145729 Approved MRP-L18 uc001fpx.1 Q96A35 OTTHUMG00000041296 ENST00000361531.2:c.209C>T 1.__UNKNOWN__:g.156708205G>A ENSP00000354525:p.Ala70Val D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3 __UNKNOWN__ CCDS1155.1 . . . . . . . . . . G 17.72 3.458233 0.63401 . . ENSG00000143314 ENST00000361531;ENST00000368211;ENST00000434558;ENST00000412846 . . . 5.57 4.6 0.57074 KOW (2);Translation protein SH3-like (1);Ribosomal protein L24/L26, conserved site (1);Ribosomal protein L24, SH3-like (1); 0.109682 0.64402 D 0.000007 T 0.40322 0.1112 M 0.67397 2.05 0.41365 D 0.987454 P 0.39352 0.669 B 0.31016 0.123 T 0.55866 -0.8073 9 0.72032 D 0.01 -17.5247 12.9383 0.58327 0.0:0.0:0.8372:0.1628 . 70 Q96A35 RM24_HUMAN V 70 . ENSP00000354525:A70V A - 2 0 MRPL24 154974829 0.996000 0.38824 0.984000 0.44739 0.912000 0.54170 2.423000 0.44705 2.633000 0.89246 0.650000 0.86243 GCC MRPL24-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000098955.1 - ENST00000361531.2 Missense_Mutation SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 TNR 7143 broad.mit.edu 37 1 175365905 175365905 + Missense_Mutation SNP C C T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr1:175365905C>T ENST00000367674.2 - 5.0 1723 c.1015G>A c.(1015-1017)Gac>Aac p.D339N TNR_ENST00000263525.2_Missense_Mutation_p.D339N Q92752 TENR_HUMAN tenascin R 339.0 Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}. associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177.0 Renal(580;0.146) ATGGACCTGTCGCTGATACCA 0.602 0 72.0 77.0 75.0 1 175365905.0 2203.0 4300.0 6503.0 SO:0001583 missense X98085 CCDS1318.1 1q24 2013-02-11 2012-07-12 ENSG00000116147 ENSG00000116147 7143.0 7143.0 """Fibrinogen C domain containing"", ""Fibronectin type III domain containing""" 11953.0 protein-coding gene gene with protein product """restrictin"", ""janusin""" 601995.0 8626505, 8940128 Standard NM_003285 NM_003285 Approved uc009wwu.1 Q92752 OTTHUMG00000034876 ENST00000367674.2:c.1015G>A 1.__UNKNOWN__:g.175365905C>T ENSP00000356646:p.Asp339Asn C9J563|Q15568|Q5R3G0 __UNKNOWN__ CCDS1318.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 25.4|25.4 4.637776|4.637776 0.87760|0.87760 .|. .|. ENSG00000116147|ENSG00000116147 ENST00000367674;ENST00000263525;ENST00000367673|ENST00000422274 T;T|. 0.73575|. -0.76;-0.76|. 5.95|5.95 5.95|5.95 0.96441|0.96441 Fibronectin, type III (4);Immunoglobulin-like fold (1);|. 0.053036|. 0.64402|. D|. 0.000001|. T|T 0.69151|0.69151 0.3079|0.3079 L|L 0.45422|0.45422 1.42|1.42 0.51767|0.51767 D|D 0.999932|0.999932 D|. 0.89917|. 1.0|. D|. 0.72075|. 0.976|. T|T 0.62859|0.62859 -0.6765|-0.6765 10|5 0.35671|. T|. 0.21|. .|. 19.9698|19.9698 0.97280|0.97280 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 339|. Q92752|. TENR_HUMAN|. N|Q 339|63 ENSP00000356646:D339N;ENSP00000263525:D339N|. ENSP00000263525:D339N|. D|R -|- 1|2 0|0 TNR|TNR 173632528|173632528 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 3.636000|3.636000 0.54317|0.54317 2.817000|2.817000 0.96982|0.96982 0.563000|0.563000 0.77884|0.77884 GAC|CGA TNR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000084414.4 - ENST00000367674.2 Missense_Mutation SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 SORBS2 8470 broad.mit.edu 37 4 186544307 186544307 + Missense_Mutation SNP C C T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr4:186544307C>T ENST00000437304.2 - 16.0 2259 SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.S755N|SORBS2_ENST00000418609.1_Missense_Mutation_p.S659N|SORBS2_ENST00000431808.1_Missense_Mutation_p.S755N|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.S855N|SORBS2_ENST00000498125.1_Intron NM_001145673.1 NP_001139145.1 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477) actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018) cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307) endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53.0 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) GTGCAGGATGCTGTTGTCCGG 0.537 Esophageal Squamous(153;41 2433 9491 36028) 0 135.0 155.0 149.0 4 186544307.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1 4q35.1 2008-02-05 ENSG00000154556 ENSG00000154556 8470.0 8470.0 24098.0 protein-coding gene gene with protein product """Arg/Abl interacting protein""" 9211900, 9872452 Standard NM_003603 NM_021069 Approved ARGBP2, KIAA0777 uc003iym.3 O94875 OTTHUMG00000157215 ENST00000437304.2:c.1676-3002G>A 4.__UNKNOWN__:g.186544307C>T A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0 __UNKNOWN__ CCDS47175.1 . . . . . . . . . . C 17.93 3.508816 0.64410 . . ENSG00000154556 ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634 T;T;T;T 0.53206 0.72;0.72;0.63;0.66 5.77 5.77 0.91146 . 0.000000 0.85682 D 0.000000 T 0.68403 0.2997 M 0.61703 1.905 0.80722 D 1 D;D;D 0.64830 0.994;0.993;0.994 D;D;D 0.72338 0.977;0.968;0.977 T 0.68800 -0.5313 10 0.72032 D 0.01 -19.6314 19.982 0.97329 0.0:1.0:0.0:0.0 . 659;855;755 B7Z3X6;B3KPQ7;O94875 .;.;SRBS2_HUMAN N 755;755;659;855 ENSP00000284776:S755N;ENSP00000411764:S755N;ENSP00000397482:S659N;ENSP00000347852:S855N ENSP00000284776:S755N S - 2 0 SORBS2 186781301 1.000000 0.71417 0.991000 0.47740 0.274000 0.26718 7.818000 0.86416 2.737000 0.93849 0.561000 0.74099 AGC SORBS2-009 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000347952.2 - ENST00000437304.2 Intron SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 RAB22A 57403 broad.mit.edu 37 20 56918775 56918775 + Splice_Site SNP G G A TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr20:56918775G>A ENST00000244040.3 + 3.0 399 c.118G>A c.(118-120)Gca>Aca p.A40T RAB22A_ENST00000488949.1_3'UTR NM_020673.2 NP_065724.1 Q9UL26 RB22A_HUMAN RAB22A, member RAS oncogene family 40.0 endocytosis (GO:0006897)|endosome organization (GO:0007032)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924) endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1) 6.0 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) TCTTTATAGGGCATCTTTTAT 0.403 0 98.0 92.0 94.0 20 56918775.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AF091034 CCDS33497.1 20q13 2008-07-03 ENSG00000124209 ENSG00000124209 57403.0 57403.0 """RAB, member RAS oncogene""" 9764.0 protein-coding gene gene with protein product 612966.0 Standard NM_020673 Approved uc002xyz.3 Q9UL26 OTTHUMG00000032844 ENST00000244040.3:c.117-1G>A 20.__UNKNOWN__:g.56918775G>A B3KR86|E1P605|Q8TF12|Q9H4E6 __UNKNOWN__ CCDS33497.1 . . . . . . . . . . G 36 5.761801 0.96906 . . ENSG00000124209 ENST00000244040 T 0.80033 -1.33 6.07 6.07 0.98685 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.90659 0.7070 M 0.83012 2.62 0.80722 D 1 D 0.76494 0.999 D 0.65773 0.938 D 0.90751 0.4657 10 0.87932 D 0 -25.3465 20.6439 0.99570 0.0:0.0:1.0:0.0 . 40 Q9UL26 RB22A_HUMAN T 40 ENSP00000244040:A40T ENSP00000244040:A40T A + 1 0 RAB22A 56352181 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.102000 0.94226 2.890000 0.99128 0.650000 0.86243 GCA RAB22A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079880.2 Missense_Mutation + ENST00000244040.3 Splice_Site SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 CPZ 8532 broad.mit.edu 37 4 8605723 8605723 + Missense_Mutation SNP G G A TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr4:8605723G>A ENST00000315782.6 + 3.0 562 c.484G>A c.(484-486)Gca>Aca p.A162T CPZ_ENST00000382480.2_Missense_Mutation_p.A36T|CPZ_ENST00000360986.4_Missense_Mutation_p.A173T|CPZ_ENST00000429646.2_5'UTR NM_003652.3 NP_003643 Q66K79 CBPZ_HUMAN carboxypeptidase Z 173.0 proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055) extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46.0 GGCTGACGAGGCACTGCCCTC 0.687 0 28.0 24.0 25.0 4 8605723.0 2167.0 4251.0 6418.0 SO:0001583 missense U83411 CCDS3404.1, CCDS33953.1, CCDS43212.1 4p16.1 2012-02-10 ENSG00000109625 ENSG00000109625 8532.0 8532.0 2333.0 protein-coding gene gene with protein product """metallocarboxypeptidase Z""" 603105.0 9099699 Standard NM_003652 NM_001014447 Approved uc003glm.3 Q66K79 OTTHUMG00000090513 ENST00000315782.6:c.484G>A 4.__UNKNOWN__:g.8605723G>A ENSP00000315074:p.Ala162Thr O00520|Q96MX2 __UNKNOWN__ CCDS3404.1 . . . . . . . . . . G 7.029 0.560268 0.13498 . . ENSG00000109625 ENST00000360986;ENST00000382480;ENST00000315782 T;T;T 0.58506 0.65;2.04;0.33 3.86 2.96 0.34315 . 1.277740 0.05772 U 0.606843 T 0.51719 0.1691 L 0.47716 1.5 0.58432 D 0.999998 B;B 0.10296 0.003;0.002 B;B 0.10450 0.005;0.002 T 0.18116 -1.0347 10 0.12766 T 0.61 -6.7555 12.0209 0.53342 0.0:0.1764:0.8236:0.0 . 162;173 Q66K79-2;Q66K79 .;CBPZ_HUMAN T 173;36;162 ENSP00000354255:A173T;ENSP00000371920:A36T;ENSP00000315074:A162T ENSP00000315074:A162T A + 1 0 CPZ 8656623 0.632000 0.27172 0.403000 0.26384 0.123000 0.20343 2.300000 0.43620 0.749000 0.32854 0.555000 0.69702 GCA CPZ-001 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000359214.1 + ENST00000315782.6 Missense_Mutation SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 ROCK2 9475 broad.mit.edu 37 2 11333967 11333967 + Nonsense_Mutation SNP G G A TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr2:11333967G>A ENST00000315872.6 - 30.0 4073 c.3625C>T c.(3625-3627)Cga>Tga p.R1209* ROCK2_ENST00000401753.1_Nonsense_Mutation_p.R966* NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 1209.0 PH. {ECO:0000255|PROSITE- ProRule:PRU00145}. actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939) centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198) 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) 43.0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) GTAACTGGTCGGACATGAAAT 0.299 0 77.0 70.0 72.0 2 11333967.0 1801.0 4072.0 5873.0 SO:0001587 stop_gained D87931 CCDS42654.1 2p24 2013-01-10 ENSG00000134318 ENSG00000134318 9475.0 9475.0 2.7.11.1 """Pleckstrin homology (PH) domain containing""" 10252.0 protein-coding gene gene with protein product 604002.0 9933571 Standard NM_004850 Approved uc002rbd.1 O75116 OTTHUMG00000149916 ENST00000315872.6:c.3625C>T 2.__UNKNOWN__:g.11333967G>A ENSP00000317985:p.Arg1209* Q53QZ0|Q53SJ7|Q9UQN5 __UNKNOWN__ CCDS42654.1 . . . . . . . . . . G 46 12.229000 0.99648 . . ENSG00000134318 ENST00000315872;ENST00000401753;ENST00000399089 . . . 5.88 5.88 0.94601 . 0.117701 0.56097 D 0.000023 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 20.2314 0.98350 0.0:0.0:1.0:0.0 . . . . X 1209;966;567 . ENSP00000317985:R1209X R - 1 2 ROCK2 11251418 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 4.509000 0.60448 2.789000 0.95967 0.591000 0.81541 CGA ROCK2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313886.3 - ENST00000315872.6 Nonsense_Mutation SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 USP19 10869 broad.mit.edu 37 3 49151652 49151652 + Silent SNP G G A TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr3:49151652G>A ENST00000434032.2 - 16.0 2563 c.2352C>T c.(2350-2352)ctC>ctT p.L784L USP19_ENST00000417901.1_Silent_p.L786L|USP19_ENST00000398892.3_Silent_p.L723L|USP19_ENST00000398888.2_Silent_p.L683L|USP19_ENST00000453664.1_Silent_p.L774L|USP19_ENST00000398898.2_Silent_p.L723L|USP19_ENST00000398896.1_Silent_p.L491L NM_001199160.1 NP_001186089.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 683.0 USP. ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732) cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843) 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) 38.0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AAAAGACAGGGAGAACCTTTT 0.547 0 119.0 123.0 122.0 3 49151652.0 1940.0 4148.0 6088.0 SO:0001819 synonymous_variant AB020698 CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1 3p21.31 2005-10-13 2005-08-08 ENSG00000172046 ENSG00000172046 10869.0 10869.0 """Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases""" 12617.0 protein-coding gene gene with protein product 614471.0 """ubiquitin specific protease 19""" 12838346 Standard NM_006677 NM_001199160 Approved KIAA0891, ZMYND9 uc011bch.2 O94966 OTTHUMG00000133611 ENST00000434032.2:c.2352C>T 3.__UNKNOWN__:g.49151652G>A A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9 __UNKNOWN__ CCDS56254.1 USP19-014 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000345934.1 - ENST00000434032.2 Silent SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 ST6GAL2 84620 broad.mit.edu 37 2 107460204 107460204 + Missense_Mutation SNP C C T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr2:107460204C>T ENST00000409382.3 - 2.0 840 c.230G>A c.(229-231)cGc>cAc p.R77H ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R77H|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R77H NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 77.0 growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65.0 CAGCGCCTGGCGTGCGTCCAG 0.677 0 17.0 22.0 20.0 2 107460204.0 2144.0 4211.0 6355.0 SO:0001583 missense AB059555 CCDS2073.1, CCDS46380.1 2q11-q12 2008-02-05 2005-02-07 2005-02-07 ENSG00000144057 ENSG00000144057 84620.0 84620.0 2.4.99.2 10861.0 protein-coding gene gene with protein product 608472.0 """sialyltransferase 2 (monosialoganglioside sialyltransferase)""" SIAT2 Standard NM_032528 NM_032528 Approved KIAA1877, St6gal2, St6GalII uc002tdr.3 Q96JF0 OTTHUMG00000130923 ENST00000409382.3:c.230G>A 2.__UNKNOWN__:g.107460204C>T ENSP00000386942:p.Arg77His D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4 __UNKNOWN__ CCDS2073.1 . . . . . . . . . . C 12.30 1.896345 0.33442 . . ENSG00000144057 ENST00000361686;ENST00000409382;ENST00000409087 T;T;T 0.32515 2.46;2.46;1.45 5.18 -4.98 0.03019 . 1.558860 0.03596 N 0.232558 T 0.13756 0.0333 N 0.03608 -0.345 0.09310 N 1 B;B 0.10296 0.003;0.001 B;B 0.06405 0.002;0.001 T 0.26985 -1.0087 10 0.41790 T 0.15 -0.4606 8.5868 0.33664 0.0:0.4994:0.1257:0.3749 . 77;77 Q96JF0-2;Q96JF0 .;SIAT2_HUMAN H 77 ENSP00000355273:R77H;ENSP00000386942:R77H;ENSP00000387332:R77H ENSP00000355273:R77H R - 2 0 ST6GAL2 106826636 0.014000 0.17966 0.000000 0.03702 0.000000 0.00434 0.727000 0.25999 -1.007000 0.03408 -0.793000 0.03317 CGC ST6GAL2-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000330065.1 - ENST00000409382.3 Missense_Mutation SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 SPINK5 11005 broad.mit.edu 37 5 147504400 147504400 + Missense_Mutation SNP G G T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr5:147504400G>T ENST00000359874.3 + 28.0 2812 c.2739G>T c.(2737-2739)aaG>aaT p.K913N SPINK5_ENST00000398454.1_Missense_Mutation_p.K913N|SPINK5_ENST00000256084.7_Splice_Site_p.K913N NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 913.0 Kazal-like 14. {ECO:0000255|PROSITE- ProRule:PRU00798}. anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471) serine-type endopeptidase inhibitor activity (GO:0004867) 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) 64.0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATAATGCAAAGGTTATTTATT 0.284 0 60.0 58.0 59.0 5 147504400.0 1799.0 4057.0 5856.0 SO:0001630 splice_region_variant AJ228139 CCDS43382.1, CCDS47300.1, CCDS47301.1 5q31-q32 2014-09-17 2005-08-17 ENSG00000133710 ENSG00000133710 11005.0 11005.0 """Serine peptidase inhibitors, Kazal type""" 15464.0 protein-coding gene gene with protein product """lymphoepithelial Kazal-type-related inhibitor""" 605010.0 """serine protease inhibitor, Kazal type 5""" 10419450 Standard NM_001127698 NM_001127698 Approved VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184 uc003loy.2 Q9NQ38 OTTHUMG00000134305 ENST00000359874.3:c.2739+1G>T 5.__UNKNOWN__:g.147504400G>T A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3 __UNKNOWN__ CCDS47300.1 . . . . . . . . . . G 13.43 2.235071 0.39498 . . ENSG00000133710 ENST00000398454;ENST00000359874;ENST00000256084 T;T;T 0.51071 0.72;0.89;3.2 4.63 4.63 0.57726 . 1.100660 0.06883 N 0.802878 T 0.56543 0.1992 L 0.29908 0.895 0.33291 D 0.563529 D;D;B 0.71674 0.998;0.996;0.296 D;P;B 0.68353 0.957;0.889;0.259 T 0.45381 -0.9265 10 0.19590 T 0.45 -19.9648 13.2871 0.60249 0.0:0.0:1.0:0.0 . 913;913;913 Q9NQ38-3;Q9NQ38;Q9NQ38-2 .;ISK5_HUMAN;. N 913 ENSP00000381472:K913N;ENSP00000352936:K913N;ENSP00000256084:K913N ENSP00000256084:K913N K + 3 2 SPINK5 147484593 1.000000 0.71417 1.000000 0.80357 0.098000 0.18820 3.779000 0.55379 2.860000 0.98153 0.655000 0.94253 AAG SPINK5-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000259217.1 Missense_Mutation + ENST00000359874.3 Splice_Site SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 RCOR1 23186 broad.mit.edu 37 14 103174910 103174910 + Missense_Mutation SNP C C T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr14:103174910C>T ENST00000262241.6 + 6.0 995 c.769C>T c.(769-771)Cgg>Tgg p.R257W RCOR1_ENST00000570597.1_Missense_Mutation_p.R254W NM_015156.3 NP_055971.2 Q9UKL0 RCOR1_HUMAN REST corepressor 1 254.0 blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 12.0 AAAACGGGAGCGGGAGGAGAG 0.468 0 102.0 109.0 106.0 14 103174910.0 2203.0 4300.0 6503.0 SO:0001583 missense AF155595 CCDS9974.1, CCDS9974.2 14q32.33 2004-04-16 2004-04-16 2004-04-16 ENSG00000089902 23186.0 23186.0 17441.0 protein-coding gene gene with protein product 607675.0 """REST corepressor""" RCOR 10449787 Standard NM_015156 NM_015156 Approved COREST, KIAA0071 uc001ymb.4 Q9UKL0 ENST00000262241.6:c.769C>T 14.__UNKNOWN__:g.103174910C>T ENSP00000262241:p.Arg257Trp Q15044|Q6P2I9|Q86VG5 __UNKNOWN__ CCDS9974.2 . . . . . . . . . . C 22.1 4.247023 0.80024 . . ENSG00000089902 ENST00000262241 . . . 5.88 4.99 0.66335 . 0.127305 0.56097 D 0.000037 T 0.56426 0.1984 L 0.59436 1.845 0.58432 D 0.999998 B 0.26809 0.16 B 0.18871 0.023 T 0.58340 -0.7653 9 0.72032 D 0.01 -18.6863 10.7992 0.46478 0.1306:0.8017:0.0:0.0677 . 254 Q9UKL0 RCOR1_HUMAN W 254 . ENSP00000262241:R254W R + 1 2 RCOR1 102244663 1.000000 0.71417 0.998000 0.56505 0.994000 0.84299 1.521000 0.35910 1.487000 0.48415 0.655000 0.94253 CGG RCOR1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000415058.3 + ENST00000262241.6 Missense_Mutation SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 CNNM3 26505 broad.mit.edu 37 2 97494331 97494331 + Missense_Mutation SNP A A G TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr2:97494331A>G ENST00000305510.3 + 6.0 1842 c.1814A>G c.(1813-1815)cAg>cGg p.Q605R ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000480035.1_3'UTR|CNNM3_ENST00000377060.3_Missense_Mutation_p.Q557R NM_017623.4 NP_060093.3 Q8NE01 CNNM3_HUMAN cyclin and CBS domain divalent metal cation transport mediator 3 605.0 ion transport (GO:0006811) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) adenyl nucleotide binding (GO:0030554) NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2) 13.0 TCCTCGCTCCAGCCCATCCGC 0.617 0 73.0 58.0 63.0 2 97494331.0 2203.0 4300.0 6503.0 SO:0001583 missense AF216965 CCDS2025.1, CCDS2026.1 2q11.2 2014-08-08 2014-08-07 ENSG00000168763 ENSG00000168763 26505.0 26505.0 104.0 protein-coding gene gene with protein product 607804.0 """cyclin M3""" ACDP3 21393841, 24632616 Standard NM_017623 XM_005263917 Approved uc002swy.3 Q8NE01 OTTHUMG00000130531 ENST00000305510.3:c.1814A>G 2.__UNKNOWN__:g.97494331A>G ENSP00000305449:p.Gln605Arg B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6 __UNKNOWN__ CCDS2025.1 . . . . . . . . . . A 11.50 1.656273 0.29425 . . ENSG00000168763 ENST00000377060;ENST00000424641;ENST00000305510 D;D 0.89875 -2.34;-2.58 5.79 2.14 0.27477 . 0.445473 0.22202 N 0.063227 T 0.74473 0.3721 N 0.20845 0.615 0.80722 D 1 B;B 0.02656 0.0;0.0 B;B 0.04013 0.0;0.001 T 0.58267 -0.7666 10 0.13853 T 0.58 -10.0899 3.2471 0.06801 0.449:0.2574:0.2936:0.0 . 557;605 Q8NE01-2;Q8NE01 .;CNNM3_HUMAN R 557;557;605 ENSP00000366260:Q557R;ENSP00000305449:Q605R ENSP00000305449:Q605R Q + 2 0 CNNM3 96858058 0.998000 0.40836 0.951000 0.38953 0.990000 0.78478 1.187000 0.32090 0.463000 0.27118 0.459000 0.35465 CAG CNNM3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252952.2 + ENST00000305510.3 Missense_Mutation SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 MUC5AC 4586 broad.mit.edu 37 11 1155162 1155162 + Missense_Mutation SNP C C T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr11:1155162C>T ENST00000356191.2 + 3.0 170 c.170C>T c.(169-171)gCg>gTg p.A57V P98088 MUC5A_HUMAN mucin 5AC, oligomeric mucus/gel-forming 57.0 cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) 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) 203.0 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) CTCCGTGGGGCGACTGTCTTC 0.672 0 26.0 28.0 28.0 11 1155162.0 875.0 1990.0 2865.0 SO:0001583 missense AJ001402, AJ298317 11p15.5 2007-04-23 2006-03-14 ENSG00000215182 ENSG00000215182 4586.0 4586.0 """Mucins""" 7515.0 protein-coding gene gene with protein product 158373.0 """mucin 5, subtypes A and C, tracheobronchial/gastric""" 7826332, 9588204 Standard XM_001130382 XM_006709945 Approved MUC5 uc001lsz.3 P98088 OTTHUMG00000154270 ENST00000356191.2:c.170C>T 11.__UNKNOWN__:g.1155162C>T ENSP00000348519:p.Ala57Val O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5 __UNKNOWN__ . . . . . . . . . . C 0.091 -1.167059 0.01660 . . ENSG00000215182 ENST00000534821;ENST00000356191 T;T 0.18174 2.23;2.53 3.46 1.06 0.20224 . . . . . T 0.03477 0.0100 N 0.00633 -1.31 . . . B 0.10296 0.003 B 0.01281 0.0 T 0.44283 -0.9338 8 0.02654 T 1 . 5.7801 0.18301 0.0:0.2362:0.0:0.7638 . 57 A7Y9J9 . V 57 ENSP00000435591:A57V;ENSP00000348519:A57V ENSP00000348519:A57V A + 2 0 MUC5AC 1145162 0.944000 0.32072 0.030000 0.17652 0.024000 0.10985 0.657000 0.24963 0.105000 0.17753 -0.915000 0.02750 GCG MUC5AC-201 KNOWN basic|appris_candidate protein_coding protein_coding + ENST00000356191.2 Missense_Mutation SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 GPR137 56834 broad.mit.edu 37 11 64056826 64056826 + Missense_Mutation SNP C C T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr11:64056826C>T ENST00000411458.1 + 9.0 1445 c.1417C>T c.(1417-1419)Ccg>Tcg p.P473S GPR137_ENST00000313074.3_Missense_Mutation_p.P415S|GPR137_ENST00000438980.2_3'UTR|GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000539851.1_3'UTR NM_001170726.1 NP_001164197.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 415.0 integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10.0 TGAGCTTGTGCCGTCCCCCTA 0.647 0 61.0 61.0 61.0 11 64056826.0 2201.0 4297.0 6498.0 SO:0001583 missense AJ250392 CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1 11q13.1 2014-02-12 2006-01-26 ENSG00000173264 ENSG00000173264 56834.0 56834.0 """GPCR / Unclassified : 7TM orphan receptors""" 24300.0 protein-coding gene gene with protein product 10873569, 12732197 Standard NM_020155 NM_001170726 Approved C11orf4, GPR137A, TM7SF1L1 uc010rni.2 Q96N19 OTTHUMG00000167817 ENST00000411458.1:c.1417C>T 11.__UNKNOWN__:g.64056826C>T ENSP00000411827:p.Pro473Ser B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6 __UNKNOWN__ CCDS53655.1 . . . . . . . . . . C 9.310 1.055330 0.19907 . . ENSG00000173264 ENST00000411458;ENST00000313074 T;T 0.51574 0.7;0.85 5.27 3.38 0.38709 . 1.323320 0.05536 N 0.564845 T 0.30293 0.0760 N 0.08118 0 0.58432 D 0.999993 B;B 0.09022 0.002;0.0 B;B 0.08055 0.003;0.001 T 0.06991 -1.0796 10 0.49607 T 0.09 -0.0272 7.3883 0.26895 0.0:0.7394:0.1696:0.091 . 473;415 B4DTG7;Q96N19 .;G137A_HUMAN S 473;415 ENSP00000411827:P473S;ENSP00000321698:P415S ENSP00000321698:P415S P + 1 0 GPR137 63813402 0.698000 0.27777 0.584000 0.28653 0.551000 0.35334 1.531000 0.36018 0.718000 0.32166 0.561000 0.74099 CCG GPR137-006 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000396415.1 + ENST00000411458.1 Missense_Mutation SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 WDR62 284403 broad.mit.edu 37 19 36585023 36585023 + Silent SNP A A T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr19:36585023A>T ENST00000401500.2 + 20.0 2459 c.2424A>T c.(2422-2424)ccA>ccT p.P808P WDR62_ENST00000270301.7_Silent_p.P808P NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 808.0 cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008) cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922) cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43.0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) AGTGTGAGCCAGAAGAGATGC 0.488 0 142.0 134.0 137.0 19 36585023.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BX647726 CCDS33001.1, CCDS46059.1 19q13.12 2013-01-09 2005-05-09 2005-05-09 ENSG00000075702 ENSG00000075702 284403.0 284403.0 """WD repeat domain containing""" 24502.0 protein-coding gene gene with protein product 613583.0 """chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2""" C19orf14, MCPH2 19910486, 20729831, 20890278, 21496009 Standard NM_015671 NM_001083961 Approved DKFZP434J046, FLJ33298 uc002odd.2 O43379 OTTHUMG00000048139 ENST00000401500.2:c.2424A>T 19.__UNKNOWN__:g.36585023A>T Q63HP9|Q659D7|Q8NBF7|Q96AD9 __UNKNOWN__ CCDS46059.1 WDR62-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000109534.3 + ENST00000401500.2 Silent SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 TCF7L2 6934 broad.mit.edu 37 10 114910867 114910867 + Missense_Mutation SNP G G A TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr10:114910867G>A ENST00000369397.4 + 8.0 1222 c.917G>A c.(916-918)gGc>gAc p.G306D TCF7L2_ENST00000538897.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000536810.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000355995.4_Missense_Mutation_p.G329D|TCF7L2_ENST00000369389.1_Missense_Mutation_p.G40D|TCF7L2_ENST00000545257.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000355717.4_Missense_Mutation_p.G353D|TCF7L2_ENST00000369386.1_5'UTR|TCF7L2_ENST00000542695.1_Missense_Mutation_p.G45D|TCF7L2_ENST00000543371.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000352065.5_Missense_Mutation_p.G306D|TCF7L2_ENST00000534894.1_Missense_Mutation_p.G329D NM_001198525.1|NM_001198527.1|NM_001198528.1|NM_030756.4 NP_001185454.1|NP_001185456.1|NP_001185457.1|NP_110383.2 Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 329.0 Mediates interaction with MAD2L2.|Pro-rich. blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351) beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667) armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41.0 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) AGTGATGTCGGCTCACTCCAT 0.532 T VTI1A colorectal Dom yes 10 10q25.3 6934.0 transcription factor 7-like 2 E 0 280.0 216.0 238.0 10 114910867.0 2203.0 4300.0 6503.0 SO:0001583 missense X62871 CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1 10q25.3 2006-11-24 ENSG00000148737 ENSG00000148737 6934.0 6934.0 11641.0 protein-coding gene gene with protein product 602228.0 TCF4 1741298 Standard NM_030756 NM_001146283 Approved TCF-4 uc001lae.4 Q9NQB0 OTTHUMG00000019070 ENST00000369397.4:c.917G>A 10.__UNKNOWN__:g.114910867G>A ENSP00000358404:p.Gly306Asp B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2 __UNKNOWN__ CCDS7576.1 . . . . . . . . . . g 10.99 1.506218 0.26949 . . ENSG00000148737 ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000352065;ENST00000542695;ENST00000369389;ENST00000277945 D;D;D;D;D;D;D;D;D;D;D;D 0.99201 -4.94;-4.95;-4.95;-4.97;-5.51;-5.52;-5.51;-4.95;-5.51;-4.96;-5.55;-5.52 5.17 4.23 0.50019 . 0.097331 0.64402 D 0.000001 D 0.96112 0.8733 N 0.05124 -0.11 0.58432 D 0.999995 B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B 0.29136 0.0;0.0;0.0;0.0;0.0;0.075;0.001;0.0;0.0;0.0;0.0;0.001;0.0;0.072;0.234;0.002;0.018;0.002;0.047 B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B 0.40825 0.001;0.001;0.001;0.001;0.001;0.028;0.004;0.001;0.001;0.001;0.0;0.002;0.002;0.031;0.341;0.002;0.06;0.005;0.04 D 0.94523 0.7729 10 0.09084 T 0.74 0.213 15.7386 0.77866 0.0:0.1362:0.8638:0.0 . 186;146;228;329;200;244;302;306;306;272;329;306;306;311;353;306;329;302;306 B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4 .;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;. D 329;329;329;329;353;329;329;306;306;45;40;46 ENSP00000348274:G329D;ENSP00000440547:G329D;ENSP00000444972:G329D;ENSP00000446238:G329D;ENSP00000347949:G353D;ENSP00000446172:G329D;ENSP00000443626:G329D;ENSP00000358404:G306D;ENSP00000344823:G306D;ENSP00000443883:G45D;ENSP00000358396:G40D;ENSP00000277945:G46D ENSP00000277945:G46D G + 2 0 TCF7L2 114900857 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.542000 0.67218 2.413000 0.81919 0.655000 0.94253 GGC TCF7L2-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000050413.1 + ENST00000369397.4 Missense_Mutation SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 PADI3 51702 broad.mit.edu 37 1 17597607 17597607 + Silent SNP C C T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 030f6d72-2301-46e1-9970-35bf1a3f3b3a 10a4b987-2a12-433b-96e9-7d0dac568184 g.chr1:17597607C>T ENST00000375460.3 + 9.0 1021 c.981C>T c.(979-981)gcC>gcT p.A327A NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 327.0 protein citrullination (GO:0018101) cytoplasm (GO:0005737) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32.0 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CAGAGCTGGCCAGGAAGGCCG 0.647 0 59.0 56.0 57.0 1 17597607.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB026831 CCDS179.1 1p36.13 2008-02-05 ENSG00000142619 ENSG00000142619 51702.0 51702.0 3.5.3.15 """Peptidyl arginine deiminases""" 18337.0 protein-coding gene gene with protein product 606755.0 11069618 Standard NM_016233 Approved PDI3 uc001bai.3 Q9ULW8 OTTHUMG00000002373 ENST00000375460.3:c.981C>T 1.__UNKNOWN__:g.17597607C>T Q58EY7|Q70SX5 __UNKNOWN__ CCDS179.1 PADI3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000006805.1 + ENST00000375460.3 Silent SNP PCPG-TCGA-QR-A70J-Normal-SM-5EQH3 SIMC1 375484 broad.mit.edu 37 5 175764121 175764121 + Silent SNP G G C TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr5:175764121G>C ENST00000430704.2 + 8.0 1225 c.1083G>C c.(1081-1083)ctG>ctC p.L361L SIMC1_ENST00000332772.4_Silent_p.L237L|SIMC1_ENST00000443967.1_Silent_p.L776L|SIMC1_ENST00000341199.6_Silent_p.L361L Q8NDZ2 SIMC1_HUMAN SUMO-interacting motifs containing 1 776.0 SUMO polymer binding (GO:0032184) TGCAGTTTCTGCTGTCCAGTT 0.408 0 G 0,4406 0,0,2203 204.0 201.0 202.0 1083 0.9 0.9 5 202.0 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous C5orf25 NM_198567.4 0,1,6502 CC,CG,GG 0.0116,0.0,0.0077 361/458 175764121.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC037298 CCDS4398.2 5q35.2 2013-08-14 2012-11-14 2012-11-14 ENSG00000170085 ENSG00000170085 375484.0 375484.0 24779.0 protein-coding gene gene with protein product """oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation""" """chromosome 5 open reading frame 25""" C5orf25 23086935, 23707407 Standard NM_198567 NM_198567 Approved FLJ44216, OOMA1, PLEIAD uc003mds.4 Q8NDZ2 OTTHUMG00000130663 ENST00000430704.2:c.1083G>C 5.__UNKNOWN__:g.175764121G>C J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15 __UNKNOWN__ CCDS4398.2 SIMC1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000329099.2 + ENST00000430704.2 Silent SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 AFAP1L2 84632 broad.mit.edu 37 10 116062114 116062114 + Missense_Mutation SNP C C T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr10:116062114C>T ENST00000304129.4 - 12.0 1443 c.1414G>A c.(1414-1416)Gcc>Acc p.A472T AFAP1L2_ENST00000369271.3_Missense_Mutation_p.A472T|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.A525T Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 472.0 inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346) cytoplasm (GO:0005737) protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124) p.A472T(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21.0 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) GAGTTTTTGGCCGCACTCACA 0.547 1 Substitution - Missense(1) prostate(1) 152.0 169.0 163.0 10 116062114.0 2203.0 4300.0 6503.0 SO:0001583 missense BC024314 CCDS31286.1, CCDS31287.1 10q26.11 2013-01-10 2007-02-07 2007-02-07 ENSG00000169129 ENSG00000169129 84632.0 84632.0 """Pleckstrin homology (PH) domain containing""" 25901.0 protein-coding gene gene with protein product 612420.0 """KIAA1914""" KIAA1914 11572484, 17412687 Standard NM_032550 XM_005270239 Approved FLJ14564, Em:AC005383.4, XB130 uc001lbn.3 Q8N4X5 OTTHUMG00000019086 ENST00000304129.4:c.1414G>A 10.__UNKNOWN__:g.116062114C>T ENSP00000303042:p.Ala472Thr A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5 __UNKNOWN__ CCDS31286.1 . . . . . . . . . . C 34 5.397481 0.96009 . . ENSG00000169129 ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353 T;T;T 0.16897 2.31;2.31;2.31 5.67 5.67 0.87782 . 0.112592 0.64402 D 0.000012 T 0.47021 0.1423 M 0.78801 2.425 0.80722 D 1 D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D 0.91635 0.999;0.993;0.998;0.998;0.999;0.998 T 0.44065 -0.9352 10 0.72032 D 0.01 -32.3907 19.773 0.96379 0.0:1.0:0.0:0.0 . 525;38;526;500;472;472 F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5 .;.;.;.;.;AF1L2_HUMAN T 472;472;499;525 ENSP00000358276:A472T;ENSP00000303042:A472T;ENSP00000444511:A525T ENSP00000303042:A472T A - 1 0 AFAP1L2 116052104 1.000000 0.71417 0.962000 0.40283 0.980000 0.70556 7.456000 0.80751 2.677000 0.91161 0.655000 0.94253 GCC AFAP1L2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000050462.1 - ENST00000304129.4 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 SNX19 399979 broad.mit.edu 37 11 130785052 130785052 + Missense_Mutation SNP G G C TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr11:130785052G>C ENST00000265909.4 - 1.0 1352 c.783C>G c.(781-783)caC>caG p.H261Q SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.H261Q|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron NM_014758.2 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 261.0 PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}. protein transport (GO:0015031) cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020) phosphatidylinositol binding (GO:0035091) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35.0 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) CGAGTACAAGGTGGATCCAGT 0.547 0 82.0 84.0 84.0 11 130785052.0 2201.0 4297.0 6498.0 SO:0001583 missense D87443 CCDS31721.1, CCDS73416.1 11q25 2010-04-20 ENSG00000120451 ENSG00000120451 399979.0 399979.0 """Sorting nexins""" 21532.0 protein-coding gene gene with protein product Standard NM_014758 NM_014758 Approved KIAA0254, CHET8 uc001qgk.4 Q92543 OTTHUMG00000165663 ENST00000265909.4:c.783C>G 11.__UNKNOWN__:g.130785052G>C ENSP00000265909:p.His261Gln E9PKB9|Q8IV55 __UNKNOWN__ CCDS31721.1 . . . . . . . . . . G 12.53 1.966965 0.34754 . . ENSG00000120451 ENST00000265909;ENST00000533214 T;T 0.13901 2.97;2.55 5.58 4.67 0.58626 Phox-associated domain (2);PX-associated, sorting nexin 13 (1); 0.043540 0.85682 D 0.000000 T 0.25121 0.0610 L 0.47716 1.5 0.80722 D 1 D;D 0.58970 0.984;0.984 P;P 0.59595 0.86;0.86 T 0.00928 -1.1511 10 0.87932 D 0 -11.8199 10.8752 0.46906 0.1439:0.0:0.8561:0.0 . 261;261 E9PKB9;Q92543 .;SNX19_HUMAN Q 261 ENSP00000265909:H261Q;ENSP00000435390:H261Q ENSP00000265909:H261Q H - 3 2 SNX19 130290262 1.000000 0.71417 0.999000 0.59377 0.480000 0.33159 2.057000 0.41365 1.364000 0.46038 -0.128000 0.14901 CAC SNX19-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385649.1 - ENST00000265909.4 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 CD96 0 broad.mit.edu 37 3 111263944 111263944 + Missense_Mutation SNP G G A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr3:111263944G>A ENST00000352690.4 + 2.0 353 c.113G>A c.(112-114)gGc>gAc p.G38D CD96_ENST00000283285.5_Missense_Mutation_p.G38D|CD96_ENST00000438817.2_Missense_Mutation_p.G38D NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 38.0 Ig-like V-type 1. cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35.0 GCTACACTTGGCTCTGATGTC 0.403 Opitz Trigonocephaly syndrome 0 168.0 146.0 153.0 3 111263944.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database C syndrome, Trigonocephaly syndrome M88282 CCDS2958.1, CCDS2959.1 3p13-q13.2 2013-01-11 2006-03-28 ENSG00000153283 ENSG00000153283 10225.0 """CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 16892.0 protein-coding gene gene with protein product 606037.0 """CD96 antigen""" 1313846 Standard XR_241462 Approved TACTILE uc003dxx.3 P40200 OTTHUMG00000159275 ENST00000352690.4:c.113G>A 3.__UNKNOWN__:g.111263944G>A ENSP00000342040:p.Gly38Asp Q5JPB3 __UNKNOWN__ CCDS2958.1 . . . . . . . . . . G 19.71 3.877481 0.72294 . . ENSG00000153283 ENST00000352690;ENST00000283285;ENST00000438817 T;T;T 0.54479 0.57;0.57;0.57 5.21 5.21 0.72293 Immunoglobulin subtype (1);Immunoglobulin-like fold (1); 0.000000 0.64402 D 0.000001 T 0.69637 0.3133 M 0.68952 2.095 0.39259 D 0.964183 D;D;D;D 0.69078 0.997;0.996;0.997;0.997 D;D;D;D 0.72338 0.977;0.962;0.977;0.977 T 0.74662 -0.3590 10 0.87932 D 0 -6.2189 14.2559 0.66051 0.0:0.0:1.0:0.0 . 38;38;38;38 E9PEJ1;P40200-2;P40200;Q8WUE2 .;.;TACT_HUMAN;. D 38 ENSP00000342040:G38D;ENSP00000283285:G38D;ENSP00000389801:G38D ENSP00000283285:G38D G + 2 0 CD96 112746634 1.000000 0.71417 1.000000 0.80357 0.689000 0.40095 4.828000 0.62730 2.438000 0.82558 0.655000 0.94253 GGC CD96-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000354313.2 + ENST00000352690.4 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 VPS13C 54832 broad.mit.edu 37 15 62253881 62253881 + Missense_Mutation SNP T T C TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr15:62253881T>C ENST00000261517.5 - 35.0 3888 c.3815A>G c.(3814-3816)cAt>cGt p.H1272R VPS13C_ENST00000395896.4_Missense_Mutation_p.H1272R|VPS13C_ENST00000249837.3_Missense_Mutation_p.H1229R|VPS13C_ENST00000395898.3_Missense_Mutation_p.H1229R NM_020821.2 NP_065872.1 vacuolar protein sorting 13 homolog C (S. cerevisiae) 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) 117.0 GAACTGATTATGAACTCTGAT 0.383 0 106.0 104.0 104.0 15 62253881.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ608770 CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1 15q21.3 2009-07-09 2006-04-04 ENSG00000129003 ENSG00000129003 54832.0 54832.0 23594.0 protein-coding gene gene with protein product 608879.0 """vacuolar protein sorting 13C (yeast)""" Standard NM_017684 NM_018080 Approved FLJ20136, FLJ10381, KIAA1421 uc002agz.3 Q709C8 OTTHUMG00000132801 ENST00000261517.5:c.3815A>G 15.__UNKNOWN__:g.62253881T>C ENSP00000261517:p.His1272Arg __UNKNOWN__ CCDS32257.1 . . . . . . . . . . T 8.689 0.906930 0.17833 . . ENSG00000129003 ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898 T;T;T 0.12774 2.65;2.65;2.65 5.76 5.76 0.90799 . 0.677816 0.14338 N 0.325921 T 0.08714 0.0216 N 0.08118 0 0.24977 N 0.991624 B;B;B;B 0.12013 0.005;0.005;0.003;0.003 B;B;B;B 0.17722 0.019;0.013;0.004;0.009 T 0.30563 -0.9974 10 0.15499 T 0.54 . 16.0677 0.80897 0.0:0.0:0.0:1.0 . 1229;1272;1229;1272 Q709C8-4;Q709C8-2;Q709C8-3;Q709C8 .;.;.;VP13C_HUMAN R 1229;1272;1272;1272 ENSP00000249837:H1229R;ENSP00000261517:H1272R;ENSP00000379233:H1272R ENSP00000249837:H1229R H - 2 0 VPS13C 60041173 0.998000 0.40836 0.914000 0.36105 0.942000 0.58702 3.055000 0.49916 2.185000 0.69588 0.460000 0.39030 CAT VPS13C-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000415997.1 - ENST00000261517.5 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 CPA4 51200 broad.mit.edu 37 7 129948219 129948219 + Missense_Mutation SNP T T G TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr7:129948219T>G ENST00000222482.4 + 8.0 803 c.775T>G c.(775-777)Tgg>Ggg p.W259G CPA4_ENST00000493259.1_Missense_Mutation_p.W155G|CPA4_ENST00000445470.2_Missense_Mutation_p.W226G NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 259.0 histone acetylation (GO:0016573) extracellular region (GO:0005576) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21.0 Melanoma(18;0.0435) AAATAGAAACTGGAACGCTAG 0.562 0 94.0 83.0 87.0 7 129948219.0 2203.0 4300.0 6503.0 SO:0001583 missense AF095719 CCDS5818.1, CCDS55163.1 7q32 2008-07-18 ENSG00000128510 ENSG00000128510 51200.0 51200.0 15740.0 protein-coding gene gene with protein product """carboxypeptidase A3""" 607635.0 10383164, 10860668 Standard NM_016352 NM_016352 Approved CPA3 uc003vpr.3 Q9UI42 OTTHUMG00000157825 ENST00000222482.4:c.775T>G 7.__UNKNOWN__:g.129948219T>G ENSP00000222482:p.Trp259Gly B7Z576|Q86UY9 __UNKNOWN__ CCDS5818.1 . . . . . . . . . . T 20.7 4.037455 0.75617 . . ENSG00000128510 ENST00000445470;ENST00000222482;ENST00000538687;ENST00000493259 T;T;T 0.14144 2.53;2.53;2.53 5.8 5.8 0.92144 Peptidase M14, carboxypeptidase A (3); 0.000000 0.85682 D 0.000000 T 0.50240 0.1604 H 0.95043 3.615 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.992 T 0.65170 -0.6233 10 0.87932 D 0 . 14.1132 0.65137 0.0:0.0:0.0:1.0 . 226;259 B7Z576;Q9UI42 .;CBPA4_HUMAN G 226;259;64;155 ENSP00000412947:W226G;ENSP00000222482:W259G;ENSP00000419660:W155G ENSP00000222482:W259G W + 1 0 CPA4 129735455 1.000000 0.71417 0.995000 0.50966 0.757000 0.42996 7.507000 0.81676 2.213000 0.71641 0.477000 0.44152 TGG CPA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000349725.1 + ENST00000222482.4 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 GUCY1A3 2982 broad.mit.edu 37 4 156632137 156632137 + Missense_Mutation SNP T T C TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr4:156632137T>C ENST00000296518.7 + 6.0 1029 c.820T>C c.(820-822)Tcg>Ccg p.S274P GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S274P|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S16P Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 274.0 blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565) guanylate cyclase complex, soluble (GO:0008074) GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64.0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) ACCCCAGTCCTCGCTGGTGAT 0.458 0 111.0 106.0 107.0 4 156632137.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS34085.1, CCDS54812.1 4q31.3-q33 2008-03-18 ENSG00000164116 2982.0 2982.0 4.6.1.2 4685.0 protein-coding gene gene with protein product 139396.0 GUC1A3 1352257 Standard NM_001130687 Approved GC-SA3 uc003iow.3 Q02108 ENST00000296518.7:c.820T>C 4.__UNKNOWN__:g.156632137T>C ENSP00000296518:p.Ser274Pro D3DP19|D6RDW3|O43843|Q8TAH3 __UNKNOWN__ CCDS34085.1 . . . . . . . . . . T 22.1 4.238171 0.79800 . . ENSG00000164116 ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574 D;D;D;D;D;D;D 0.88818 -2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43 5.76 4.56 0.56223 Haem NO binding associated (1); 0.104953 0.42964 D 0.000633 D 0.89392 0.6702 L 0.36672 1.1 0.41172 D 0.986177 D;D;D 0.53619 0.961;0.961;0.961 P;P;P 0.57846 0.828;0.828;0.828 D 0.89015 0.3431 10 0.49607 T 0.09 . 12.5278 0.56096 0.125:0.0:0.0:0.8749 . 274;274;274 B3KU69;Q02108;D6RDW3 .;GCYA3_HUMAN;. P 274;274;274;274;16;274;274 ENSP00000424361:S274P;ENSP00000421493:S274P;ENSP00000426968:S274P;ENSP00000412201:S274P;ENSP00000377418:S16P;ENSP00000296518:S274P;ENSP00000426040:S274P ENSP00000296518:S274P S + 1 0 GUCY1A3 156851587 1.000000 0.71417 0.999000 0.59377 0.976000 0.68499 4.452000 0.60054 1.087000 0.41251 0.523000 0.50628 TCG GUCY1A3-010 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000365786.2 + ENST00000296518.7 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 JOSD1 9929 broad.mit.edu 37 22 39085109 39085109 + Missense_Mutation SNP T T C TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr22:39085109T>C ENST00000216039.5 - 3.0 1019 c.340A>G c.(340-342)Aac>Gac p.N114D NM_014876.5 NP_055691.1 Q15040 JOS1_HUMAN Josephin domain containing 1 114.0 Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}. cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886) omega peptidase activity (GO:0008242) large_intestine(1)|lung(1)|ovary(2)|pancreas(1) 5.0 Melanoma(58;0.04) CCCATGACGTTAGTGAGGGCA 0.552 0 74.0 64.0 67.0 22 39085109.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS13976.1 22q13.1 2005-11-10 ENSG00000100221 ENSG00000100221 9929.0 9929.0 28953.0 protein-coding gene gene with protein product 615323.0 7584044 Standard NM_014876 NM_014876 Approved KIAA0063 uc003awf.3 Q15040 OTTHUMG00000151030 ENST00000216039.5:c.340A>G 22.__UNKNOWN__:g.39085109T>C ENSP00000216039:p.Asn114Asp A8K712 __UNKNOWN__ CCDS13976.1 . . . . . . . . . . T 19.26 3.792596 0.70452 . . ENSG00000100221 ENST00000216039;ENST00000427389 T;T 0.41065 1.01;1.01 5.76 4.73 0.59995 . 0.000000 0.85682 D 0.000000 T 0.63319 0.2501 M 0.82323 2.585 0.80722 D 1 D 0.69078 0.997 D 0.80764 0.994 T 0.62918 -0.6752 10 0.22109 T 0.4 . 11.7065 0.51599 0.0:0.0688:0.0:0.9312 . 114 Q15040 JOS1_HUMAN D 114 ENSP00000216039:N114D;ENSP00000410010:N114D ENSP00000216039:N114D N - 1 0 JOSD1 37415055 1.000000 0.71417 0.924000 0.36721 0.583000 0.36354 6.279000 0.72620 1.009000 0.39289 -0.256000 0.11100 AAC JOSD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000321047.1 - ENST00000216039.5 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 TXNDC2 0 broad.mit.edu 37 18 9886961 9886961 + Missense_Mutation SNP G G A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr18:9886961G>A ENST00000306084.6 + 2.0 684 c.485G>A c.(484-486)gGc>gAc p.G162D TXNDC2_ENST00000357775.5_Missense_Mutation_p.G95D|TXNDC2_ENST00000536353.2_Missense_Mutation_p.G95D NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 162.0 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520) nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31.0 CCCAAGCTGGGCAATATTCCC 0.562 0 123.0 131.0 128.0 18 9886961.0 2203.0 4300.0 6503.0 SO:0001583 missense AF080095 CCDS11846.1, CCDS42414.1 18p11.31-p11.2 2009-03-11 2009-03-11 2007-08-16 ENSG00000168454 ENSG00000168454 84203.0 16470.0 protein-coding gene gene with protein product """sperm-specific thioredoxin 1""" 11230166, 11399755 Standard NM_001098529 Approved SPTRX1 uc002koi.4 Q86VQ3 OTTHUMG00000131602 ENST00000306084.6:c.485G>A 18.__UNKNOWN__:g.9886961G>A ENSP00000304908:p.Gly162Asp A5YM73|Q8N7U4|Q96RX3|Q9H0L8 __UNKNOWN__ CCDS42414.1 . . . . . . . . . . g 8.901 0.956346 0.18507 . . ENSG00000168454 ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718 T;T;T 0.41758 1.94;0.99;0.99 3.16 -6.33 0.01988 . 1.685430 0.03585 N 0.230870 T 0.25082 0.0609 N 0.14661 0.345 0.09310 N 1 B 0.33637 0.42 B 0.37198 0.243 T 0.21655 -1.0239 9 . . . -1.0E-4 7.5046 0.27536 0.3653:0.4185:0.2161:0.0 . 162 Q86VQ3 TXND2_HUMAN D 95;95;162;162 ENSP00000437393:G95D;ENSP00000350419:G95D;ENSP00000304908:G162D . G + 2 0 TXNDC2 9876961 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -3.096000 0.00606 -2.727000 0.00386 -0.368000 0.07277 GGC TXNDC2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000254487.1 + ENST00000306084.6 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 AOC3 8639 broad.mit.edu 37 17 41003755 41003755 + Missense_Mutation SNP G G A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr17:41003755G>A ENST00000308423.2 + 1.0 555 c.395G>A c.(394-396)aGg>aAg p.R132K NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 132.0 amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677) cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886) aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593) breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41.0 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) TTCTTTGGCAGGCAACCCCAG 0.677 NSCLC(3;192 220 10664 11501 16477) 0 9.0 10.0 10.0 17 41003755.0 2077.0 4071.0 6148.0 SO:0001583 missense AF067406 CCDS11444.1, CCDS62198.1, CCDS74071.1 17q21 2013-05-08 2013-05-08 ENSG00000131471 8639.0 8639.0 1.4.3.21 550.0 protein-coding gene gene with protein product """vascular adhesion protein 1""" 603735.0 9653080, 8972912 Standard NM_003734 NM_003734 Approved VAP1, HPAO, VAP-1 uc002ibv.4 Q16853 ENST00000308423.2:c.395G>A 17.__UNKNOWN__:g.41003755G>A ENSP00000312326:p.Arg132Lys B2RCI5|K7ESB3|L0L8N9|Q45F94 __UNKNOWN__ CCDS11444.1 . . . . . . . . . . G 0.010 -1.770031 0.00645 . . ENSG00000131471 ENST00000308423 T 0.28255 1.62 4.75 -1.54 0.08584 Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1); 1.049840 0.07407 N 0.891659 T 0.12646 0.0307 N 0.02539 -0.55 0.09310 N 1 B 0.02656 0.0 B 0.06405 0.002 T 0.31530 -0.9940 10 0.21014 T 0.42 . 11.6568 0.51324 0.1254:0.7335:0.1412:0.0 . 132 Q16853 AOC3_HUMAN K 132 ENSP00000312326:R132K ENSP00000312326:R132K R + 2 0 AOC3 38257281 0.000000 0.05858 0.007000 0.13788 0.241000 0.25554 -0.217000 0.09253 -0.038000 0.13624 0.591000 0.81541 AGG AOC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452444.1 + ENST00000308423.2 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 DPPA2 151871 broad.mit.edu 37 3 109027103 109027103 + Missense_Mutation SNP C C T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr3:109027103C>T ENST00000478945.1 - 6.0 680 c.434G>A c.(433-435)cGa>cAa p.R145Q NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 145.0 lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32.0 CCTCGAACATCGCTGTAATCT 0.438 0 140.0 120.0 126.0 3 109027103.0 2203.0 4300.0 6503.0 SO:0001583 missense AY283672 CCDS2956.1 3q13.13 2010-05-04 ENSG00000163530 ENSG00000163530 151871.0 151871.0 19197.0 protein-coding gene gene with protein product """cancer/testis antigen 100""" 614445.0 15583978 Standard NM_138815 NM_138815 Approved PESCRG1, CT100 uc003dxo.3 Q7Z7J5 OTTHUMG00000159227 ENST00000478945.1:c.434G>A 3.__UNKNOWN__:g.109027103C>T ENSP00000417710:p.Arg145Gln Q8WVF0 __UNKNOWN__ CCDS2956.1 . . . . . . . . . . C 6.040 0.375697 0.11409 . . ENSG00000163530 ENST00000478945 T 0.47869 0.83 3.89 6.22E-6 0.14040 . 1.830180 0.02677 N 0.109176 T 0.22475 0.0542 N 0.04508 -0.205 0.09310 N 1 B 0.20261 0.043 B 0.12156 0.007 T 0.08391 -1.0724 10 0.22706 T 0.39 0.3328 1.0189 0.01513 0.2142:0.1891:0.4201:0.1766 . 145 Q7Z7J5 DPPA2_HUMAN Q 145 ENSP00000417710:R145Q ENSP00000417710:R145Q R - 2 0 DPPA2 110509793 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 0.058000 0.14301 -0.023000 0.13963 -0.321000 0.08615 CGA DPPA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353938.1 - ENST00000478945.1 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 TPO 7173 broad.mit.edu 37 2 1418187 1418187 + Missense_Mutation SNP G G A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr2:1418187G>A ENST00000345913.4 + 2.0 98 c.7G>A c.(7-9)Gcg>Acg p.A3T TPO_ENST00000382198.1_Missense_Mutation_p.A3T|TPO_ENST00000382269.3_Missense_Mutation_p.A3T|TPO_ENST00000329066.4_Missense_Mutation_p.A3T|TPO_ENST00000382201.3_Missense_Mutation_p.A3T|TPO_ENST00000349624.3_Missense_Mutation_p.A3T|TPO_ENST00000539820.1_Missense_Mutation_p.A3T|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.A3T|TPO_ENST00000346956.3_Missense_Mutation_p.A3T NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 3.0 cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590) extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601) 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) 95.0 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)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550) TAGAATGAGAGCGCTCGCTGT 0.522 0 71.0 69.0 70.0 2 1418187.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS1643.1, CCDS1644.1, CCDS1646.1 2p25 2008-02-05 ENSG00000115705 ENSG00000115705 7173.0 7173.0 1.11.1.7 12015.0 protein-coding gene gene with protein product 606765.0 Standard NM_000547 NM_175722 Approved TPX uc002qww.3 P07202 OTTHUMG00000090271 ENST00000345913.4:c.7G>A 2.__UNKNOWN__:g.1418187G>A ENSP00000318820:p.Ala3Thr P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9 __UNKNOWN__ CCDS1643.1 . . . . . . . . . . G 6.848 0.525663 0.13066 . . ENSG00000115705 ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198 T;T;T;T;T;T;T;T;T;T 0.66460 0.25;-0.21;-0.21;-0.16;0.07;0.25;-0.21;-0.12;0.28;0.07 5.39 -1.97 0.07503 . 1.351910 0.04684 N 0.412836 T 0.46927 0.1418 N 0.13043 0.29 0.09310 N 1 B;B;B;B;B 0.06786 0.001;0.0;0.001;0.001;0.001 B;B;B;B;B 0.09377 0.003;0.002;0.004;0.001;0.001 T 0.25082 -1.0142 10 0.16420 T 0.52 -1.8566 9.8779 0.41216 0.6312:0.0:0.3688:0.0 . 3;3;3;3;3 P07202-4;P07202-5;E9PFM6;P07202-2;P07202 .;.;.;.;PERT_HUMAN T 3 ENSP00000371704:A3T;ENSP00000337263:A3T;ENSP00000318820:A3T;ENSP00000263886:A3T;ENSP00000332044:A3T;ENSP00000444840:A3T;ENSP00000329869:A3T;ENSP00000371636:A3T;ENSP00000390994:A3T;ENSP00000371633:A3T ENSP00000329869:A3T A + 1 0 TPO 1397194 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.663000 0.05299 -0.382000 0.07870 -0.812000 0.03155 GCG TPO-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000206594.2 + ENST00000345913.4 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 MLLT6 4302 broad.mit.edu 37 17 36881820 36881820 + Missense_Mutation SNP A A G rs145698748 TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr17:36881820A>G ENST00000325718.7 + 20.0 3342 c.3251A>G c.(3250-3252)aAa>aGa p.K1084R NM_005937.3 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 1084.0 regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634) zinc ion binding (GO:0008270) breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8.0 Breast(7;4.43e-21) ACCGCTGACAAAGGAGCCTCA 0.582 T MLL AL Dom yes 17 17q21 4302.0 """myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)""" L 0 A ARG/LYS 2,4404 4.2+/-10.8 0,2,2201 56.0 54.0 54.0 3251 4.3 1.0 17 dbSNP_134 54.0 0,8600 0,0,4300 yes missense MLLT6 NM_005937.3 26 0,2,6501 GG,GA,AA 0.0,0.0454,0.0154 benign 1084/1094 36881820.0 2,13004 2203.0 4300.0 6503.0 SO:0001583 missense CCDS11327.1 17q21 2014-04-10 2001-11-28 ENSG00000108292 ENSG00000275023 4302.0 4302.0 """Zinc fingers, PHD-type""" 7138.0 protein-coding gene gene with protein product """Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog""" 600328.0 """myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6""" 8058765 Standard NM_005937 NM_005937 Approved AF17, FLJ23480 uc002hqi.4 P55198 OTTHUMG00000188498 ENST00000325718.7:c.3251A>G 17.__UNKNOWN__:g.36881820A>G ENSP00000316426:p.Lys1084Arg Q59F28|Q96IU3|Q9H5F6|Q9UF49 __UNKNOWN__ CCDS11327.1 . . . . . . . . . . A 15.49 2.847765 0.51164 4.54E-4 0.0 ENSG00000108292 ENST00000325718 T 0.54866 0.55 5.37 4.3 0.51218 . 0.000000 0.64402 D 0.000004 T 0.46405 0.1391 L 0.58101 1.795 0.33227 D 0.555458 B 0.06786 0.001 B 0.06405 0.002 T 0.56007 -0.8050 10 0.66056 D 0.02 . 7.6784 0.28499 0.9073:0.0:0.0927:0.0 . 1084 P55198 AF17_HUMAN R 1084 ENSP00000316426:K1084R ENSP00000316426:K1084R K + 2 0 MLLT6 34135346 1.000000 0.71417 1.000000 0.80357 0.952000 0.60782 2.549000 0.45803 1.069000 0.40788 0.533000 0.62120 AAA MLLT6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256799.1 + ENST00000325718.7 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 RTN4 57142 broad.mit.edu 37 2 55252359 55252359 + Missense_Mutation SNP G G A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr2:55252359G>A ENST00000337526.6 - 3.0 3119 c.2876C>T c.(2875-2877)gCc>gTc p.A959V RTN4_ENST00000405240.1_Missense_Mutation_p.A753V|RTN4_ENST00000404909.1_Missense_Mutation_p.A753V|RTN4_ENST00000354474.6_Missense_Mutation_p.A727V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.A753V|RTN4_ENST00000394611.2_Missense_Mutation_p.A753V|RTN4_ENST00000357732.4_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 959.0 angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334) cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886) poly(A) RNA binding (GO:0044822) NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36.0 TGCTTGAGTGGCCAAAGCAGA 0.403 0 128.0 128.0 128.0 2 55252359.0 2203.0 4300.0 6503.0 SO:0001583 missense AF087901 CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1 2p14-p13 2008-05-23 ENSG00000115310 ENSG00000115310 57142.0 57142.0 14085.0 protein-coding gene gene with protein product 604475.0 10667797, 10773680 Standard NM_020532 Approved NSP-CL, KIAA0886, NOGO, ASY uc002rye.3 Q9NQC3 OTTHUMG00000129337 ENST00000337526.6:c.2876C>T 2.__UNKNOWN__:g.55252359G>A ENSP00000337838:p.Ala959Val O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6 __UNKNOWN__ CCDS42684.1 . . . . . . . . . . G 3.438 -0.114770 0.06881 . . ENSG00000115310 ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474 T;T;T;T;T;T 0.18810 2.19;2.19;2.19;2.19;2.19;2.2 5.17 0.901 0.19284 . 1.119980 0.06721 N 0.774867 T 0.20170 0.0485 L 0.51422 1.61 0.09310 N 1 B 0.26318 0.146 B 0.22152 0.038 T 0.31280 -0.9949 10 0.33141 T 0.24 0.9988 9.1212 0.36788 0.0686:0.0:0.5082:0.4232 . 959 Q9NQC3 RTN4_HUMAN V 753;753;959;753;753;727 ENSP00000384471:A753V;ENSP00000349944:A753V;ENSP00000337838:A959V;ENSP00000378109:A753V;ENSP00000385650:A753V;ENSP00000346465:A727V ENSP00000337838:A959V A - 2 0 RTN4 55105863 0.003000 0.15002 0.012000 0.15200 0.006000 0.05464 1.295000 0.33377 0.224000 0.20940 0.655000 0.94253 GCC RTN4-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000251484.1 - ENST00000337526.6 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 OR10X1 128367 broad.mit.edu 37 1 158549598 158549598 + Missense_Mutation SNP A A G TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr1:158549598A>G ENST00000368150.1 - 1.0 91 c.92T>C c.(91-93)gTt>gCt p.V31A NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 31.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37.0 all_hematologic(112;0.0378) AGAAAAGCCAACAAGAATGAA 0.368 0 123.0 120.0 121.0 1 158549598.0 2203.0 4300.0 6503.0 SO:0001583 missense BK004194 CCDS30900.1 1q23.1 2013-10-10 2013-10-10 2004-03-10 ENSG00000186400 ENSG00000186400 128367.0 128367.0 """GPCR / Class A : Olfactory receptors""" 14995.0 protein-coding gene gene with protein product """olfactory receptor, family 10, subfamily X, member 1""" OR10X1P Standard NM_001004477 NM_001004477 Approved uc010pin.2 Q8NGY0 OTTHUMG00000019635 ENST00000368150.1:c.92T>C 1.__UNKNOWN__:g.158549598A>G ENSP00000357132:p.Val31Ala Q6IFR8 __UNKNOWN__ CCDS30900.1 . . . . . . . . . . A 8.714 0.912642 0.17907 . . ENSG00000186400 ENST00000368150 T 0.00448 7.38 5.13 5.13 0.70059 . 0.343745 0.21033 N 0.081313 T 0.00144 0.0004 L 0.52266 1.64 0.09310 N 1 P 0.40909 0.732 B 0.29716 0.106 T 0.21690 -1.0238 10 0.62326 D 0.03 . 9.4549 0.38750 0.8416:0.0:0.0:0.1584 . 31 Q8NGY0 O10X1_HUMAN A 31 ENSP00000357132:V31A ENSP00000357132:V31A V - 2 0 OR10X1 156816222 0.000000 0.05858 0.076000 0.20297 0.384000 0.30261 0.579000 0.23788 2.139000 0.66308 0.528000 0.53228 GTT OR10X1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051850.2 - ENST00000368150.1 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 TRIM51 84767 broad.mit.edu 37 11 55653270 55653270 + Silent SNP G G A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr11:55653270G>A ENST00000449290.2 + 2.0 458 c.366G>A c.(364-366)cgG>cgA p.R122R NM_032681.3 NP_116070.2 Q9BSJ1 TRI51_HUMAN tripartite motif-containing 51 122.0 intracellular (GO:0005622) zinc ion binding (GO:0008270) AGGAGCACCGGAATCACATAC 0.478 0 18.0 17.0 17.0 11 55653270.0 692.0 1591.0 2283.0 SO:0001819 synonymous_variant BC005014 11p11 2013-01-09 2012-05-18 2012-05-18 ENSG00000124900 ENSG00000124900 84767.0 84767.0 """Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers""" 19023.0 protein-coding gene gene with protein product """SPRY domain containing 5""" SPRYD5 Standard NM_032681 NM_032681 Approved TRIM51A uc010rip.2 Q9BSJ1 OTTHUMG00000156437 ENST00000449290.2:c.366G>A 11.__UNKNOWN__:g.55653270G>A A6NMG2 __UNKNOWN__ TRIM51-004 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000391522.1 + ENST00000449290.2 Silent SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 RP11-144F15.1 55703 broad.mit.edu 37 12 106897897 106897897 + Missense_Mutation SNP G G A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr12:106897897G>A ENST00000551505.1 - 2.0 229 POLR3B_ENST00000539066.1_Missense_Mutation_p.R988H|POLR3B_ENST00000228347.4_Missense_Mutation_p.R1046H GGTGGCTTGCGTCTCGGGGAA 0.418 0 257.0 222.0 234.0 12 106897897.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant ENST00000551505.1:c.210-3937C>T 12.__UNKNOWN__:g.106897897G>A __UNKNOWN__ . . . . . . . . . . G 36 5.605987 0.96626 . . ENSG00000013503 ENST00000228347;ENST00000539066 D;D 0.87650 -2.28;-2.28 5.75 5.75 0.90469 RNA polymerase Rpb2, domain 7 (1); 0.000000 0.85682 D 0.000000 D 0.97517 0.9187 H 0.99974 5.14 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.99201 1.0873 10 0.87932 D 0 -15.9032 19.9598 0.97242 0.0:0.0:1.0:0.0 . 1046 Q9NW08 RPC2_HUMAN H 1046;988 ENSP00000228347:R1046H;ENSP00000445721:R988H ENSP00000228347:R1046H R + 2 0 POLR3B 105422027 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 9.869000 0.99810 2.716000 0.92895 0.655000 0.94253 CGT RP11-144F15.1-001 PUTATIVE basic|appris_principal|exp_conf protein_coding protein_coding OTTHUMT00000407171.1 - ENST00000551505.1 Intron SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 PIGO 84720 broad.mit.edu 37 9 35092369 35092369 + Silent SNP C C T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr9:35092369C>T ENST00000378617.3 - 7.0 1909 c.1515G>A c.(1513-1515)gaG>gaA p.E505E PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Silent_p.E505E|PIGO_ENST00000361778.2_Intron NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 505.0 C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) transferase activity (GO:0016740) endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38.0 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CTAGCTTCAGCTCAATAGTTC 0.582 0 55.0 57.0 57.0 9 35092369.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB083625 CCDS6575.1, CCDS6576.1 9p13.2 2013-02-26 2006-06-28 ENSG00000165282 ENSG00000165282 84720.0 84720.0 """Phosphatidylinositol glycan anchor biosynthesis""" 23215.0 protein-coding gene gene with protein product 614730.0 """phosphatidylinositol glycan, class O""" 10781593 Standard NM_032634 NM_032634 Approved DKFZp434M222, FLJ00135 uc003zwd.3 Q8TEQ8 OTTHUMG00000019854 ENST00000378617.3:c.1515G>A 9.__UNKNOWN__:g.35092369C>T B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0 __UNKNOWN__ CCDS6575.1 PIGO-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052284.1 - ENST00000378617.3 Silent SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 HECA 51696 broad.mit.edu 37 6 139488311 139488311 + Missense_Mutation SNP C C T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr6:139488311C>T ENST00000367658.2 + 2.0 1447 c.1162C>T c.(1162-1164)Ctc>Ttc p.L388F RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA NM_016217.2 NP_057301.1 Q9UBI9 HDC_HUMAN headcase homolog (Drosophila) 388.0 respiratory tube development (GO:0030323) membrane (GO:0016020) endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1) 15.0 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) TCTGGCCGCGCTCAGTGCCAG 0.577 C 0.0 0.0 2184.0 1.0 , , 0.0003 0.0 0.0 EXOME 0.0005 SNP 0 51.0 46.0 48.0 6 139488311.0 2203.0 4300.0 6503.0 SO:0001583 missense AB033492 CCDS5194.1 6q23-q24 2010-11-25 ENSG00000112406 ENSG00000112406 51696.0 51696.0 21041.0 protein-coding gene gene with protein product 607977.0 11696983, 19643820 Standard NM_016217 NM_016217 Approved HDCL, hHDC, HDC, dJ225E12.1 uc003qin.3 Q9UBI9 OTTHUMG00000015686 ENST00000367658.2:c.1162C>T 6.__UNKNOWN__:g.139488311C>T ENSP00000356630:p.Leu388Phe __UNKNOWN__ CCDS5194.1 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 C 24.1 4.489696 0.84962 . . ENSG00000112406 ENST00000367658 . . . 5.07 5.07 0.68467 . 0.057651 0.64402 D 0.000001 T 0.62636 0.2444 L 0.34521 1.04 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 T 0.66976 -0.5787 9 0.87932 D 0 . 18.6449 0.91407 0.0:1.0:0.0:0.0 . 388 Q9UBI9 HDC_HUMAN F 388 . ENSP00000356630:L388F L + 1 0 HECA 139530004 1.000000 0.71417 0.992000 0.48379 0.921000 0.55340 5.532000 0.67154 2.642000 0.89623 0.563000 0.77884 CTC HECA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042456.1 + ENST00000367658.2 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 RP11-468E2.6 0 broad.mit.edu 37 14 24592285 24592285 + Splice_Site SNP C C T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr14:24592285C>T ENST00000558325.1 + 2.0 273 c.273C>T c.(271-273)ttC>ttT p.F91F DCAF11_ENST00000396936.1_Splice_Site_p.S402L|DCAF11_ENST00000559115.1_Splice_Site_p.S502L|DCAF11_ENST00000396941.4_Splice_Site_p.S476L|DCAF11_ENST00000446197.3_Splice_Site_p.S502L p.S502L(1) GTCAGCAGTTCGGTGAGGTTG 0.572 1 Substitution - Missense(1) large_intestine(1) 140.0 118.0 125.0 14 24592285.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant ENST00000558325.1:c.274+1C>T 14.__UNKNOWN__:g.24592285C>T __UNKNOWN__ . . . . . . . . . . c 31 5.092934 0.94149 . . ENSG00000100897 ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941 T;T 0.74421 -0.84;-0.84 5.33 5.33 0.75918 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.000000 0.85682 D 0.000000 D 0.91395 0.7285 H 0.98027 4.13 0.80722 D 1 D;D;D;D;D 0.89917 0.997;0.988;0.999;1.0;0.996 P;P;D;D;P 0.78314 0.889;0.592;0.937;0.991;0.788 D 0.94078 0.7341 10 0.87932 D 0 -6.6235 16.5604 0.84551 0.0:1.0:0.0:0.0 . 425;476;402;502;502 Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1 .;.;.;.;DCA11_HUMAN L 502;476;402;476 ENSP00000380142:S402L;ENSP00000380146:S476L ENSP00000323680:S502L S + 2 0 DCAF11 23662125 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 6.737000 0.74816 2.778000 0.95560 0.655000 0.94253 TCG RP11-468E2.6-001 PUTATIVE mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf protein_coding protein_coding OTTHUMT00000416525.1 Silent + ENST00000558325.1 Splice_Site SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 C5 727 broad.mit.edu 37 9 123742463 123742463 + Missense_Mutation SNP A A C TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr9:123742463A>C ENST00000223642.1 - 28.0 3585 c.3556T>G c.(3556-3558)Ttt>Gtt p.F1186V NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1186.0 activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579) chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46.0 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028) GCCAATGTAAAGGTGCTCTGG 0.408 0 142.0 140.0 141.0 9 123742463.0 2203.0 4300.0 6503.0 SO:0001583 missense M57729 CCDS6826.1 9q33-q34 2014-09-17 ENSG00000106804 ENSG00000106804 727.0 727.0 """Complement system"", ""Endogenous ligands""" 1331.0 protein-coding gene gene with protein product """prepro-C5"", ""C5a anaphylatoxin""" 120900.0 Standard NM_001735 NM_001735 Approved CPAMD4, C5a, C5b uc004bkv.3 P01031 OTTHUMG00000020579 ENST00000223642.1:c.3556T>G 9.__UNKNOWN__:g.123742463A>C ENSP00000223642:p.Phe1186Val Q14CJ0|Q27I61 __UNKNOWN__ CCDS6826.1 . . . . . . . . . . A 17.30 3.355313 0.61293 . . ENSG00000106804 ENST00000223642 T 0.35421 1.31 5.13 5.13 0.70059 Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1); 0.057909 0.64402 D 0.000001 T 0.43523 0.1251 M 0.78916 2.43 0.46849 D 0.999224 B 0.28713 0.22 B 0.33121 0.158 T 0.44651 -0.9314 10 0.52906 T 0.07 . 12.6951 0.56999 1.0:0.0:0.0:0.0 . 1186 P01031 CO5_HUMAN V 1186 ENSP00000223642:F1186V ENSP00000223642:F1186V F - 1 0 C5 122782284 1.000000 0.71417 0.974000 0.42286 0.947000 0.59692 5.235000 0.65348 1.932000 0.55993 0.533000 0.62120 TTT C5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053844.1 - ENST00000223642.1 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 KLRD1 3824 broad.mit.edu 37 12 10462061 10462061 + Nonsense_Mutation SNP G G T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr12:10462061G>T ENST00000381907.4 + 3.0 284 c.82G>T c.(82-84)Gga>Tga p.G28* KLRD1_ENST00000336164.4_Nonsense_Mutation_p.G28*|KLRD1_ENST00000543777.1_Nonsense_Mutation_p.G28*|KLRD1_ENST00000350274.5_Intron|KLRD1_ENST00000538997.1_Intron|KLRD1_ENST00000543420.1_Nonsense_Mutation_p.G28*|KLRD1_ENST00000381908.3_Nonsense_Mutation_p.G28* NM_001114396.1 NP_001107868 Q13241 KLRD1_HUMAN killer cell lectin-like receptor subfamily D, member 1 28.0 cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776) external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888) endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 10.0 GTCTACGTTGGGAATTTTGTT 0.343 0 104.0 94.0 97.0 12 10462061.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained U30610 CCDS8621.1, CCDS8622.1 12p13 2009-12-03 3824.0 3824.0 """Killer cell lectin-like receptors"", ""CD molecules""" 6378.0 protein-coding gene gene with protein product 602894.0 CD94 7589107 Standard NM_002262 NM_002262 Approved uc001qxx.4 Q13241 ENST00000381907.4:c.82G>T 12.__UNKNOWN__:g.10462061G>T ENSP00000371332:p.Gly28* O43321|O43773|Q9UBE3|Q9UEQ0 __UNKNOWN__ CCDS8621.1 . . . . . . . . . . G 35 5.537811 0.96460 . . ENSG00000134539 ENST00000381907;ENST00000381908;ENST00000336164;ENST00000543420;ENST00000543777 . . . 4.82 4.82 0.62117 . 0.309004 0.23676 N 0.045678 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.66056 D 0.02 . 14.1213 0.65189 0.0:0.0:1.0:0.0 . . . . X 28 . ENSP00000338130:G28X G + 1 0 KLRD1 10353328 1.000000 0.71417 0.602000 0.28890 0.019000 0.09904 1.303000 0.33470 2.602000 0.87976 0.591000 0.81541 GGA KLRD1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000399684.2 + ENST00000381907.4 Nonsense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 HAT1 8520 broad.mit.edu 37 2 172841113 172841113 + Missense_Mutation SNP A A G TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr2:172841113A>G ENST00000264108.4 + 9.0 877 c.841A>G c.(841-843)Agc>Ggc p.S281G SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.S196G NM_003642.3 NP_003633.1 O14929 HAT1_HUMAN histone acetyltransferase 1 281.0 chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234) H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402) breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1) 19.0 OV - Ovarian serous cystadenocarcinoma(117;0.216) TCCATCCAAAAGCTATGTGAA 0.333 0 81.0 80.0 80.0 2 172841113.0 2203.0 4300.0 6503.0 SO:0001583 missense AF030424 CCDS2245.1 2q31.2-q33.1 2011-07-01 ENSG00000128708 ENSG00000128708 8520.0 8520.0 2.3.1.48 """Chromatin-modifying enzymes / K-acetyltransferases""" 4821.0 protein-coding gene gene with protein product 603053.0 9427644 Standard NM_003642 NM_003642 Approved KAT1 uc002uhi.3 O14929 OTTHUMG00000132282 ENST00000264108.4:c.841A>G 2.__UNKNOWN__:g.172841113A>G ENSP00000264108:p.Ser281Gly Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9 __UNKNOWN__ CCDS2245.1 . . . . . . . . . . A 16.74 3.207325 0.58343 . . ENSG00000128708 ENST00000392584;ENST00000264108 . . . 5.63 5.63 0.86233 Acyl-CoA N-acyltransferase (2); 0.083649 0.85682 D 0.000000 T 0.56731 0.2005 L 0.43923 1.385 0.43430 D 0.995596 B;B 0.22146 0.065;0.039 B;B 0.12837 0.008;0.006 T 0.56408 -0.7984 9 0.87932 D 0 -32.3833 16.1381 0.81502 1.0:0.0:0.0:0.0 . 196;281 O14929-2;O14929 .;HAT1_HUMAN G 196;281 . ENSP00000264108:S281G S + 1 0 HAT1 172549359 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 8.638000 0.91019 2.258000 0.74832 0.533000 0.62120 AGC HAT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255377.1 + ENST00000264108.4 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 TRIP11 9321 broad.mit.edu 37 14 92470283 92470283 + Missense_Mutation SNP T T C TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr14:92470283T>C ENST00000267622.4 - 11.0 4410 c.4037A>G c.(4036-4038)cAg>cGg p.Q1346R NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1346.0 QQ -> HE (in Ref. 5; AAB84386). {ECO:0000305}. protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281) acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) transcription coactivator activity (GO:0003713) 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) 58.0 COAD - Colon adenocarcinoma(157;0.223) TAACTCTTGCTGAAGCAATTC 0.418 T PDGFRB AML Ovarian(84;609 1888 9852 42686) Dom yes 14 14q31-q32 9321.0 thyroid hormone receptor interactor 11 L 0 89.0 90.0 90.0 14 92470283.0 2203.0 4300.0 6503.0 SO:0001583 missense L40380 CCDS9899.1 14q31-q32 2008-05-02 ENSG00000100815 9321.0 9321.0 12305.0 protein-coding gene gene with protein product 604505.0 7776974, 9373237 Standard NM_004239 Approved CEV14, Trip230, GMAP-210 uc001xzy.3 Q15643 ENST00000267622.4:c.4037A>G 14.__UNKNOWN__:g.92470283T>C ENSP00000267622:p.Gln1346Arg B2RUT2|O14689|O15154|O95949 __UNKNOWN__ CCDS9899.1 . . . . . . . . . . T 2.411 -0.335304 0.05278 . . ENSG00000100815 ENST00000267622;ENST00000542257 T 0.04119 3.7 3.85 2.7 0.31948 . 0.460006 0.22711 N 0.056561 T 0.04227 0.0117 L 0.50333 1.59 0.09310 N 1 B;B 0.11235 0.0;0.004 B;B 0.10450 0.002;0.005 T 0.45556 -0.9253 10 0.14656 T 0.56 . 3.2645 0.06860 0.1723:0.1935:0.0:0.6342 . 1082;1346 F5H1Z0;Q15643 .;TRIPB_HUMAN R 1346;1082 ENSP00000267622:Q1346R ENSP00000267622:Q1346R Q - 2 0 TRIP11 91540036 0.073000 0.21202 0.011000 0.14972 0.220000 0.24768 0.275000 0.18698 0.366000 0.24427 0.374000 0.22700 CAG TRIP11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000411823.1 - ENST00000267622.4 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 FAM83D 81610 broad.mit.edu 37 20 37576619 37576619 + Missense_Mutation SNP T T A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr20:37576619T>A ENST00000217429.4 + 3.0 883 c.842T>A c.(841-843)aTc>aAc p.I281N NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 251.0 mitotic nuclear division (GO:0007067) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28.0 Myeloproliferative disorder(115;0.00878) ATTGATGGCATCCGCGTGGCA 0.418 0 103.0 97.0 99.0 20 37576619.0 1969.0 4158.0 6127.0 SO:0001583 missense AL023803 CCDS42872.1 20q11.23 2014-03-13 2006-03-23 2006-03-23 ENSG00000101447 ENSG00000101447 81610.0 81610.0 16122.0 protein-coding gene gene with protein product """chromosome 20 open reading frame 129""" C20orf129 23205133 Standard NM_030919 Approved dJ616B8.3 uc002xjg.3 Q9H4H8 OTTHUMG00000032462 ENST00000217429.4:c.842T>A 20.__UNKNOWN__:g.37576619T>A ENSP00000217429:p.Ile281Asn B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8 __UNKNOWN__ CCDS42872.1 . . . . . . . . . . T 12.77 2.036466 0.35893 . . ENSG00000101447 ENST00000217429;ENST00000424027 T 0.10477 2.87 6.16 6.16 0.99307 . 0.099623 0.64402 D 0.000002 T 0.07234 0.0183 N 0.05124 -0.11 0.44024 D 0.996748 P 0.40282 0.711 B 0.41374 0.355 T 0.51426 -0.8707 10 0.17369 T 0.5 . 16.4795 0.84153 0.0:0.0:0.0:1.0 . 251 Q9H4H8 FA83D_HUMAN N 281;235 ENSP00000217429:I281N ENSP00000217429:I281N I + 2 0 FAM83D 37010033 1.000000 0.71417 1.000000 0.80357 0.920000 0.55202 4.893000 0.63199 2.367000 0.80283 0.528000 0.53228 ATC FAM83D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079211.1 + ENST00000217429.4 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 DOCK8 81704 broad.mit.edu 37 9 441994 441994 + Silent SNP C C T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr9:441994C>T ENST00000469391.1 + 40.0 5254 c.5175C>T c.(5173-5175)atC>atT p.I1725I DOCK8_ENST00000432829.2_Silent_p.I1757I|DOCK8_ENST00000453981.1_Silent_p.I1825I|DOCK8_ENST00000382329.1_Silent_p.I1292I NM_001190458.1|NM_001193536.1 NP_001177387.1|NP_001180465.1 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1825.0 DHR-2. blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264) cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020) guanyl-nucleotide exchange factor activity (GO:0005085) 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) 65.0 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) TTCCTGAGATCTCACATAGAC 0.403 0 108.0 105.0 106.0 9 441994.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK090429 CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1 9p24.3 2014-09-17 ENSG00000107099 ENSG00000107099 81704.0 81704.0 19191.0 protein-coding gene gene with protein product 611432.0 11214971 Standard XM_036307 NM_203447 Approved FLJ00026, FLJ00152, ZIR8, FLJ00346 uc003zgf.2 Q8NF50 OTTHUMG00000078789 ENST00000469391.1:c.5175C>T 9.__UNKNOWN__:g.441994C>T A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2 __UNKNOWN__ CCDS55284.1 DOCK8-012 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000354646.1 + ENST00000469391.1 Silent SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 THOC1 9984 broad.mit.edu 37 18 246364 246364 + Missense_Mutation SNP C C T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr18:246364C>T ENST00000261600.6 - 11.0 885 c.878G>A c.(877-879)gGa>gAa p.G293E THOC1_ENST00000582313.1_5'UTR NM_005131.2 NP_005122.2 Q96FV9 THOC1_HUMAN THO complex 1 293.0 apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784) cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346) DNA binding (GO:0003677)|RNA binding (GO:0003723) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 20.0 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) TACATGTTCTCCTCCTGTTTT 0.274 0 48.0 47.0 47.0 18 246364.0 1783.0 4054.0 5837.0 SO:0001583 missense AK055354 CCDS45820.1 18p11.32 2013-02-11 ENSG00000079134 ENSG00000079134 9984.0 9984.0 """THO complex subunits""" 19070.0 protein-coding gene gene with protein product 606930.0 11979277 Standard NM_005131 NM_005131 Approved P84, HPR1 uc002kkj.4 Q96FV9 ENST00000261600.6:c.878G>A 18.__UNKNOWN__:g.246364C>T ENSP00000261600:p.Gly293Glu B2RBP6|Q15219|Q64I72|Q64I73 __UNKNOWN__ CCDS45820.1 . . . . . . . . . . C 17.12 3.308658 0.60305 . . ENSG00000079134 ENST00000261600 . . . 5.81 4.94 0.65067 . 0.000000 0.85682 D 0.000000 T 0.64972 0.2647 L 0.46157 1.445 0.80722 D 1 D;D 0.89917 0.998;1.0 D;D 0.79784 0.923;0.993 T 0.62263 -0.6891 9 0.05351 T 0.99 -18.902 14.866 0.70416 0.0:0.9314:0.0:0.0686 . 293;293 Q96FV9-2;Q96FV9 .;THOC1_HUMAN E 293 . ENSP00000261600:G293E G - 2 0 THOC1 236364 1.000000 0.71417 0.991000 0.47740 0.996000 0.88848 7.468000 0.80943 1.457000 0.47850 0.655000 0.94253 GGA THOC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000440348.5 - ENST00000261600.6 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 ATP5J2-PTCD1 10898 broad.mit.edu 37 7 99054072 99054072 + Silent SNP C C T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr7:99054072C>T ENST00000413834.1 - 2.0 144 CPSF4_ENST00000441580.1_Silent_p.H175H|CPSF4_ENST00000451876.1_Silent_p.H195H|ATP5J2_ENST00000466753.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000292476.5_Silent_p.H253H|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000436336.2_Silent_p.H228H ATP5J2-PTCD1 readthrough AGAAAGGACACTACGCCAACA 0.577 0 90.0 77.0 82.0 7 99054072.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant CCDS56496.1 7q22.1 2011-02-21 ENSG00000248919 ENSG00000248919 100526740.0 100526740.0 38844.0 other readthrough Standard NM_001198879.1 NM_001198879 Approved uc011kiw.2 OTTHUMG00000160779 ENST00000413834.1:c.121+3636G>A 7.__UNKNOWN__:g.99054072C>T __UNKNOWN__ CCDS56496.1 . . . . . . . . . . C 16.12 3.031925 0.54790 . . ENSG00000160917 ENST00000452047;ENST00000440514 T 0.33654 1.4 6.01 4.19 0.49359 . . . . . T 0.46698 0.1406 . . . 0.80722 D 1 . . . . . . T 0.43065 -0.9414 6 0.87932 D 0 -20.1672 8.7233 0.34454 0.0:0.736:0.0:0.264 . . . . I 164;150 ENSP00000392584:T164I ENSP00000415188:T150I T + 2 0 CPSF4 98892008 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 2.282000 0.43461 2.851000 0.98039 0.609000 0.83330 ACT ATP5J2-PTCD1-001 KNOWN basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000362258.1 - ENST00000413834.1 Intron SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 RTP4 64108 broad.mit.edu 37 3 187089150 187089150 + Missense_Mutation SNP A A G TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr3:187089150A>G ENST00000259030.2 + 2.0 840 c.730A>G c.(730-732)Aca>Gca p.T244A NM_022147.2 NP_071430.2 Q96DX8 RTP4_HUMAN receptor (chemosensory) transporter protein 4 244.0 detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11.0 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) CAAATGCTTTACATCAGAATG 0.378 0 47.0 41.0 43.0 3 187089150.0 2203.0 4300.0 6503.0 SO:0001583 missense BC013161 CCDS33910.1 3q27.3 2014-02-20 2006-11-21 ENSG00000136514 ENSG00000136514 64108.0 64108.0 """Receptor transporter proteins""" 23992.0 protein-coding gene gene with protein product """zinc finger, 3CxxC-type 4""" 609350.0 """receptor transporter protein 4""" 16271481, 15550249, 16720576 Standard NM_022147 NM_022147 Approved IFRG28, Z3CXXC4 uc003frm.3 Q96DX8 OTTHUMG00000156459 ENST00000259030.2:c.730A>G 3.__UNKNOWN__:g.187089150A>G ENSP00000259030:p.Thr244Ala Q9H4F3 __UNKNOWN__ CCDS33910.1 . . . . . . . . . . A 6.939 0.543016 0.13250 . . ENSG00000136514 ENST00000259030 T 0.18960 2.18 3.9 -3.41 0.04839 . 4.991230 0.00424 N 0.000068 T 0.12347 0.0300 N 0.14661 0.345 0.09310 N 1 B 0.11235 0.004 B 0.04013 0.001 T 0.33137 -0.9880 10 0.87932 D 0 6.2582 4.565 0.12180 0.2054:0.0:0.3787:0.4159 . 244 Q96DX8 RTP4_HUMAN A 244 ENSP00000259030:T244A ENSP00000259030:T244A T + 1 0 RTP4 188571844 0.000000 0.05858 0.000000 0.03702 0.014000 0.08584 -0.544000 0.06077 -0.604000 0.05760 -0.333000 0.08304 ACA RTP4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000344260.1 + ENST00000259030.2 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 OSBPL6 114880 broad.mit.edu 37 2 179255937 179255937 + Missense_Mutation SNP G G T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr2:179255937G>T ENST00000392505.2 + 23.0 3058 c.2514G>T c.(2512-2514)tgG>tgT p.W838C OSBPL6_ENST00000409045.3_Missense_Mutation_p.W782C|OSBPL6_ENST00000315022.2_Missense_Mutation_p.W817C|OSBPL6_ENST00000409631.1_Missense_Mutation_p.W777C|OSBPL6_ENST00000190611.4_Missense_Mutation_p.W813C|OSBPL6_ENST00000359685.3_Missense_Mutation_p.W777C NM_001201480.1 NP_001188409.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 813.0 lipid transport (GO:0006869) cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886) lipid binding (GO:0008289) 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) 46.0 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) AGTGCATTTGGAGACCAGGTG 0.527 0 138.0 121.0 127.0 2 179255937.0 2203.0 4300.0 6503.0 SO:0001583 missense AF392448 CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1 2q32.1 2008-05-27 ENSG00000079156 ENSG00000079156 114880.0 114880.0 """Oxysterol binding proteins""" 16388.0 protein-coding gene gene with protein product """OSBP-related protein 6""" 606734.0 11483621 Standard NM_032523 NM_001201480 Approved ORP6 uc002uly.3 Q9BZF3 OTTHUMG00000132579 ENST00000392505.2:c.2514G>T 2.__UNKNOWN__:g.179255937G>T ENSP00000376293:p.Trp838Cys B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1 __UNKNOWN__ CCDS56150.1 . . . . . . . . . . G 23.3 4.398950 0.83120 . . ENSG00000079156 ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022 T;T;T;T;T;T 0.47528 0.84;0.84;0.84;0.84;0.84;0.84 5.06 5.06 0.68205 . 0.000000 0.85682 D 0.000000 T 0.81399 0.4814 H 0.98027 4.13 0.80722 D 1 D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0 D;D;D;D;D 0.97110 1.0;1.0;0.998;0.999;1.0 D 0.88777 0.3268 10 0.87932 D 0 -7.4271 18.8281 0.92127 0.0:0.0:1.0:0.0 . 782;817;777;838;813 Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3 .;.;.;.;OSBL6_HUMAN C 838;777;782;813;777;817 ENSP00000376293:W838C;ENSP00000352713:W777C;ENSP00000387248:W782C;ENSP00000190611:W813C;ENSP00000386885:W777C;ENSP00000318723:W817C ENSP00000190611:W813C W + 3 0 OSBPL6 178964183 1.000000 0.71417 1.000000 0.80357 0.954000 0.61252 9.624000 0.98398 2.514000 0.84764 0.462000 0.41574 TGG OSBPL6-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000334394.1 + ENST00000392505.2 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 PYGB 5834 broad.mit.edu 37 20 25273158 25273158 + Missense_Mutation SNP G G A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr20:25273158G>A ENST00000216962.4 + 17.0 2196 c.2086G>A c.(2086-2088)Gcc>Acc p.A696T NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 696.0 carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31.0 CATGGACGGCGCCAACGTGGA 0.647 0 77.0 72.0 74.0 20 25273158.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS13171.1 20p11.21 2013-03-01 ENSG00000100994 ENSG00000100994 5834.0 5834.0 2.4.1.1 """Glycogen phosphorylases""" 9723.0 protein-coding gene gene with protein product """glycogen phosphorylase, brain form""" 138550.0 Standard NM_002862 NM_002862 Approved uc002wup.3 P11216 OTTHUMG00000032117 ENST00000216962.4:c.2086G>A 20.__UNKNOWN__:g.25273158G>A ENSP00000216962:p.Ala696Thr Q96AK1|Q9NPX8 __UNKNOWN__ CCDS13171.1 . . . . . . . . . . G 36 5.665160 0.96745 . . ENSG00000100994 ENST00000216962 D 0.95103 -3.61 4.28 4.28 0.50868 . 0.000000 0.85682 D 0.000000 D 0.98432 0.9478 H 0.99090 4.425 0.80722 D 1 D 0.67145 0.996 D 0.65140 0.932 D 0.99712 1.1007 10 0.87932 D 0 -33.9554 16.8738 0.86046 0.0:0.0:1.0:0.0 . 696 P11216 PYGB_HUMAN T 696 ENSP00000216962:A696T ENSP00000216962:A696T A + 1 0 PYGB 25221158 1.000000 0.71417 0.945000 0.38365 0.981000 0.71138 9.482000 0.97935 2.385000 0.81259 0.462000 0.41574 GCC PYGB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078415.2 + ENST00000216962.4 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 FGF16 8823 broad.mit.edu 37 X 76709702 76709702 + Missense_Mutation SNP A A G TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chrX:76709702A>G ENST00000439435.1 + 1.0 55 c.55A>G c.(55-57)Act>Gct p.T19A O43320 FGF16_HUMAN fibroblast growth factor 16 0.0 cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of brown fat cell proliferation (GO:0070349)|response to temperature stimulus (GO:0009266)|signal transduction (GO:0007165) extracellular region (GO:0005576)|extracellular space (GO:0005615) growth factor activity (GO:0008083) NS(1)|breast(1)|lung(2) 4.0 CGGGGAGTGGACTCTGGCCTG 0.428 0 87.0 81.0 83.0 X 76709702.0 1918.0 4116.0 6034.0 SO:0001583 missense AB009391 CCDS75996.1 Xq21.1 2014-01-31 ENSG00000196468 ENSG00000196468 8823.0 8823.0 3672.0 protein-coding gene gene with protein product 300827.0 """metacarpal 4-5 fusion""" MF4 9473496, 11474196, 23709756 Standard NM_003868 NM_003868 Approved uc011mqp.2 O43320 OTTHUMG00000013133 ENST00000439435.1:c.55A>G X.__UNKNOWN__:g.76709702A>G ENSP00000399324:p.Thr19Ala __UNKNOWN__ . . . . . . . . . . A 12.87 2.068734 0.36470 . . ENSG00000196468 ENST00000439435 . . . 4.3 4.3 0.51218 . . . . . T 0.62551 0.2437 . . . . . . . . . . . . T 0.70641 -0.4816 3 . . . . 12.9364 0.58316 1.0:0.0:0.0:0.0 . . . . A 19 . . T + 1 0 FGF16 76596358 1.000000 0.71417 1.000000 0.80357 0.953000 0.61014 9.037000 0.93765 1.691000 0.51100 0.486000 0.48141 ACT FGF16-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal protein_coding protein_coding OTTHUMT00000036814.1 + ENST00000439435.1 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 PROM1 8842 broad.mit.edu 37 4 15989292 15989292 + Silent SNP T T A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr4:15989292T>A ENST00000505450.1 - 19.0 2709 c.2097A>T c.(2095-2097)ggA>ggT p.G699G PROM1_ENST00000510224.1_Silent_p.G708G|PROM1_ENST00000508167.1_Silent_p.G699G|PROM1_ENST00000543373.1_Silent_p.G699G|PROM1_ENST00000539194.1_Silent_p.G708G|PROM1_ENST00000447510.2_Silent_p.G708G|PROM1_ENST00000540805.1_Silent_p.G708G NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 708.0 camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042) apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982) actinin binding (GO:0042805)|cadherin binding (GO:0045296) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35.0 TTACCAACAATCCATTCCCTG 0.353 0 175.0 169.0 171.0 4 15989292.0 1826.0 4087.0 5913.0 SO:0001819 synonymous_variant AF027208 CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1 4p15 2013-06-06 2001-11-28 2003-03-28 ENSG00000007062 ENSG00000007062 8842.0 8842.0 """CD molecules""" 9454.0 protein-coding gene gene with protein product 604365.0 """prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)""" PROML1, MCDR2, STGD4 11467842 Standard NM_006017 NM_006017 Approved AC133, CD133, RP41, CORD12 uc003goo.2 O43490 OTTHUMG00000160180 ENST00000505450.1:c.2097A>T 4.__UNKNOWN__:g.15989292T>A Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6 __UNKNOWN__ CCDS54746.1 PROM1-001 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000359592.2 - ENST00000505450.1 Silent SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 TSNAXIP1 55815 ucsc.edu 37 16 67855030 67855030 + Missense_Mutation SNP G G A TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 5b364e89-dcc0-4745-bbdb-815f52c81377 cb60fb86-b526-4433-8244-3174f160d475 g.chr16:67855030G>A ENST00000388833.3 + 4.0 504 c.127G>A c.(127-129)Gcc>Acc p.A43T TSNAXIP1_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.A97T|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.C59Y NM_018430.2 NP_060900.2 translin-associated factor X interacting protein 1 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1) 22.0 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) CTTTCGCACTGCCAAGCCCCA 0.617 0 24.0 29.0 27.0 16 67855030.0 2000.0 4152.0 6152.0 SO:0001583 missense AF132730 CCDS10846.2, CCDS73903.1, CCDS73904.1 16q22.2 2008-02-05 ENSG00000102904 ENSG00000102904 55815.0 55815.0 18586.0 protein-coding gene gene with protein product 607720 12036294 Standard NM_018430 XM_005256051 Approved TXI1 uc002euj.3 Q2TAA8 OTTHUMG00000137545 ENST00000388833.3:c.127G>A 16.__UNKNOWN__:g.67855030G>A ENSP00000373485:p.Ala43Thr __UNKNOWN__ CCDS10846.2 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 2.588|2.588 -0.295786|-0.295786 0.05532|0.05532 .|. .|. ENSG00000102904|ENSG00000102904 ENST00000388833|ENST00000415766 .|. .|. .|. 4.48|4.48 -0.563|-0.563 0.11778|0.11778 .|. 0.617977|. 0.15059|. N|. 0.282869|. T|T 0.07324|0.07324 0.0185|0.0185 N|N 0.01048|0.01048 -1.04|-1.04 0.09310|0.09310 N|N 1|1 B;B|B 0.02656|0.02656 0.0;0.0|0.0 B;B|B 0.08055|0.04013 0.003;0.002|0.001 T|T 0.33523|0.33523 -0.9865|-0.9865 9|8 0.10636|0.17369 T|T 0.68|0.5 -1.7966|-1.7966 0.6316|0.6316 0.00795|0.00795 0.2322:0.14:0.3304:0.2973|0.2322:0.14:0.3304:0.2973 .|. 97;43|59 B4DXD0;Q2TAA8|E7ENJ7 .;TXIP1_HUMAN|. T|Y 43|59 .|. ENSP00000373485:A43T|ENSP00000411472:C59Y A|C +|+ 1|2 0|0 TSNAXIP1|TSNAXIP1 66412531|66412531 0.093000|0.093000 0.21703|0.21703 0.117000|0.117000 0.21633|0.21633 0.124000|0.124000 0.20399|0.20399 0.199000|0.199000 0.17237|0.17237 0.111000|0.111000 0.17947|0.17947 0.643000|0.643000 0.83706|0.83706 GCC|TGC TSNAXIP1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000268876.2 + ENST00000388833.3 Missense_Mutation SNP PCPG-TCGA-QR-A70K-Normal-SM-5EQH7 ERCC6-PGBD3 0 broad.mit.edu 37 10 50724947 50724947 + Missense_Mutation SNP C C T TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr10:50724947C>T ENST00000515869.1 - 6.0 1738 c.1618G>A c.(1618-1620)Gag>Aag p.E540K PGBD3_ENST00000508005.2_Missense_Mutation_p.E72K|PGBD3_ENST00000374127.3_Missense_Mutation_p.E72K|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E540K|PGBD3_ENST00000603152.1_Missense_Mutation_p.E540K|ERCC6_ENST00000355832.5_Intron NM_001277059.1 NP_001263988.1 ERCC6-PGBD3 readthrough GAGTCAGACTCAGCATCAGAG 0.453 0 140.0 133.0 135.0 10 50724947.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS60529.1 10q11.23 2013-05-10 ENSG00000258838 ENSG00000258838 101243544.0 101243544.0 48347.0 other readthrough Standard NM_001277058 Approved OTTHUMG00000171334 ENST00000515869.1:c.1618G>A 10.__UNKNOWN__:g.50724947C>T ENSP00000423550:p.Glu540Lys __UNKNOWN__ . . . . . . . . . . C 15.33 2.800542 0.50315 . . ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838 ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839 T;T;T;T 0.16457 2.34;2.34;3.31;3.31 0.468 0.468 0.16732 . . . . . T 0.05777 0.0151 N 0.08118 0 0.21579 N 0.999633 B;B 0.32753 0.383;0.043 B;B 0.21708 0.036;0.007 T 0.37150 -0.9718 8 0.09590 T 0.72 -32.6777 . . . . 540;72 E7EV46;Q8N328 .;PGBD3_HUMAN K 72;72;540;540 ENSP00000363242:E72K;ENSP00000426963:E72K;ENSP00000423550:E540K;ENSP00000387966:E540K ENSP00000387966:E540K E - 1 0 PGBD3;RP11-123B3.6 50394953 0.990000 0.36364 0.877000 0.34402 0.866000 0.49608 1.611000 0.36879 0.488000 0.27723 0.491000 0.48974 GAG ERCC6-PGBD3-001 NOVEL basic|appris_principal|readthrough_transcript protein_coding protein_coding OTTHUMT00000413019.1 - ENST00000515869.1 Missense_Mutation SNP PCPG-TCGA-QR-A70M-Normal-SM-5EQF4 DDC 1644 broad.mit.edu 37 7 50595871 50595871 + Silent SNP C C T TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr7:50595871C>T ENST00000426377.1 - 4.0 512 c.444G>A c.(442-444)ctG>ctA p.L148L DDC_ENST00000357936.5_Silent_p.L226L|DDC_ENST00000431062.1_Intron|DDC_ENST00000380984.4_Silent_p.L226L|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000444124.2_Silent_p.L226L NM_001242888.1 NP_001229817 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 226.0 2 X approximate tandem repeats. catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842) axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021) amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170) breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40.0 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968) TGTCTCTCTCCAGGGCTTCCT 0.512 0 78.0 76.0 77.0 7 50595871.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1 7p12.1 2012-08-30 ENSG00000132437 ENSG00000132437 1644.0 1644.0 4.1.1.28 2719.0 protein-coding gene gene with protein product 107930.0 1612608 Standard NM_001082971 Approved AADC uc003tpf.4 P20711 OTTHUMG00000023353 ENST00000426377.1:c.444G>A 7.__UNKNOWN__:g.50595871C>T C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6 __UNKNOWN__ CCDS56485.1 . . . . . . . . . . C 7.647 0.682075 0.14907 . . ENSG00000132437 ENST00000430300 . . . 6.06 6.06 0.98353 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . -7.5574 9.4013 0.38435 0.0:0.8494:0.0:0.1506 . . . . X 107 . . W - 2 0 DDC 50563365 1.000000 0.71417 0.974000 0.42286 0.625000 0.37756 1.565000 0.36386 2.879000 0.98667 0.650000 0.86243 TGG DDC-013 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000342604.1 - ENST00000426377.1 Silent SNP PCPG-TCGA-QR-A70M-Normal-SM-5EQF4 ABCA13 154664 broad.mit.edu 37 7 48314803 48314803 + Missense_Mutation SNP T T G TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr7:48314803T>G ENST00000435803.1 + 17.0 5564 c.5540T>G c.(5539-5541)aTg>aGg p.M1847R NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1847.0 transport (GO:0006810) integral component of membrane (GO:0016021) ATP binding (GO:0005524)|ATPase activity (GO:0016887) 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) 270.0 CATGGGCTCATGTCTTCTTCC 0.448 0 61.0 60.0 60.0 7 48314803.0 1883.0 4112.0 5995.0 SO:0001583 missense AY204751 CCDS47584.1 7p12.3 2012-03-14 ENSG00000179869 ENSG00000179869 154664.0 154664.0 """ATP binding cassette transporters / subfamily A""" 14638.0 protein-coding gene gene with protein product 607807.0 12697998 Standard NM_152701 NM_152701 Approved FLJ33876, FLJ33951 uc003toq.2 Q86UQ4 OTTHUMG00000155840 ENST00000435803.1:c.5540T>G 7.__UNKNOWN__:g.48314803T>G ENSP00000411096:p.Met1847Arg K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248 __UNKNOWN__ CCDS47584.1 . . . . . . . . . . T 4.825 0.153456 0.09185 . . ENSG00000179869 ENST00000435803 T 0.15017 2.46 5.65 0.223 0.15292 . 2.354250 0.01931 N 0.041250 T 0.12475 0.0303 L 0.34521 1.04 0.09310 N 1 P 0.35363 0.497 B 0.28553 0.091 T 0.21552 -1.0242 9 . . . . 6.0895 0.19987 0.0:0.1873:0.3887:0.4239 . 1847 Q86UQ4 ABCAD_HUMAN R 1847 ENSP00000411096:M1847R . M + 2 0 ABCA13 48285349 0.000000 0.05858 0.000000 0.03702 0.094000 0.18550 -0.434000 0.06939 0.075000 0.16796 0.377000 0.23210 ATG ABCA13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000341964.2 + ENST00000435803.1 Missense_Mutation SNP PCPG-TCGA-QR-A70M-Normal-SM-5EQF4 SLC13A4 26266 broad.mit.edu 37 7 135370341 135370341 + Missense_Mutation SNP C C T TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr7:135370341C>T ENST00000354042.4 - 14.0 2223 c.1534G>A c.(1534-1536)Gtg>Atg p.V512M C7orf73_ENST00000422968.1_Intron|SLC13A4_ENST00000491630.1_5'UTR NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 512.0 sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) sodium:sulfate symporter activity (GO:0015382) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24.0 ACAATGGACACGAGGATGCAT 0.567 0 C MET/VAL 0,4406 0,0,2203 201.0 173.0 182.0 1534 6.0 1.0 7 182.0 1,8599 1.2+/-3.3 0,1,4299 no missense SLC13A4 NM_012450.2 21 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 probably-damaging 512/627 135370341.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AF169301 CCDS5840.1 7q33 2013-07-18 2013-07-18 ENSG00000164707 ENSG00000164707 26266.0 26266.0 """Solute carriers""" 15827.0 protein-coding gene gene with protein product """sulphate transporter 1""" 604309.0 """solute carrier family 13 (sodium/sulphate symporters), member 4""" 10535998 Standard NM_012450 NM_012450 Approved SUT-1, SUT1 uc003vta.3 Q9UKG4 OTTHUMG00000155539 ENST00000354042.4:c.1534G>A 7.__UNKNOWN__:g.135370341C>T ENSP00000297282:p.Val512Met A4D1Q4|Q8N631 __UNKNOWN__ CCDS5840.1 . . . . . . . . . . C 29.4 5.005035 0.93287 0.0 1.16E-4 ENSG00000164707 ENST00000354042 T 0.03468 3.92 6.03 6.03 0.97812 . 0.000000 0.85682 D 0.000000 T 0.16769 0.0403 L 0.59436 1.845 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 T 0.00002 -1.2620 10 0.87932 D 0 . 18.0507 0.89347 0.0:1.0:0.0:0.0 . 381;512 Q59HF0;Q9UKG4 .;S13A4_HUMAN M 512 ENSP00000297282:V512M ENSP00000297282:V512M V - 1 0 SLC13A4 135020881 1.000000 0.71417 1.000000 0.80357 0.963000 0.63663 6.027000 0.70881 2.861000 0.98227 0.655000 0.94253 GTG SLC13A4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340558.1 - ENST00000354042.4 Missense_Mutation SNP PCPG-TCGA-QR-A70M-Normal-SM-5EQF4 ZNF862 643641 broad.mit.edu 37 7 149545325 149545325 + Missense_Mutation SNP T T C TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr7:149545325T>C ENST00000223210.4 + 4.0 988 c.743T>C c.(742-744)cTg>cCg p.L248P NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 248.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) 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) 34.0 CCAGGGCCTCTGGGAGGATTT 0.582 0 19.0 21.0 20.0 7 149545325.0 1842.0 4096.0 5938.0 SO:0001583 missense AB011115 CCDS47741.1 7q36.1 2013-01-11 ENSG00000106479 ENSG00000106479 643641.0 643641.0 """Zinc fingers, C2H2-type"", ""-""" 34519.0 protein-coding gene gene with protein product Standard NM_001099220 NM_001099220 Approved uc010lpn.3 O60290 OTTHUMG00000158093 ENST00000223210.4:c.743T>C 7.__UNKNOWN__:g.149545325T>C ENSP00000223210:p.Leu248Pro A0AUL8 __UNKNOWN__ CCDS47741.1 . . . . . . . . . . T 15.00 2.702466 0.48307 . . ENSG00000106479 ENST00000223210 T 0.02121 4.44 4.68 3.52 0.40303 . 0.000000 0.36066 N 0.002810 T 0.03827 0.0108 L 0.32530 0.975 0.51233 D 0.999914 D 0.54601 0.967 P 0.52909 0.713 T 0.52260 -0.8599 10 0.87932 D 0 -18.8686 7.598 0.28058 0.1885:0.0:0.0:0.8115 . 248 O60290 ZN862_HUMAN P 248 ENSP00000223210:L248P ENSP00000223210:L248P L + 2 0 ZNF862 149176258 0.994000 0.37717 0.997000 0.53966 0.616000 0.37450 1.579000 0.36536 0.817000 0.34445 0.533000 0.62120 CTG ZNF862-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350165.1 + ENST00000223210.4 Missense_Mutation SNP PCPG-TCGA-QR-A70M-Normal-SM-5EQF4 ECE1 1889 broad.mit.edu 37 1 21573845 21573845 + Silent SNP G G A TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr1:21573845G>A ENST00000436918.2 - 9.0 1081 c.1032C>T c.(1030-1032)ccC>ccT p.P344P ECE1_ENST00000264205.6_Silent_p.P341P|ECE1_ENST00000415912.2_Silent_p.P328P|ECE1_ENST00000374893.6_Silent_p.P344P|ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000357071.4_Silent_p.P332P P42892 ECE1_HUMAN endothelin converting enzyme 1 344.0 bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814) early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093) endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803) endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25.0 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) AGTTGATGGCGGGTGCCAAGG 0.537 0 134.0 126.0 129.0 1 21573845.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D49471 CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1 1p36.1 2008-02-05 ENSG00000117298 ENSG00000117298 1889.0 1889.0 3146.0 protein-coding gene gene with protein product 600423.0 ECE 7805846, 7864876, 17592116 Standard NM_001397 NM_001397 Approved uc001bei.2 P42892 OTTHUMG00000002625 ENST00000436918.2:c.1032C>T 1.__UNKNOWN__:g.21573845G>A A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501 __UNKNOWN__ ECE1-008 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000007476.2 - ENST00000436918.2 Silent SNP PCPG-TCGA-QR-A70M-Normal-SM-5EQF4 NPIPB5 100132247 broad.mit.edu 37 16 22546262 22546262 + Missense_Mutation SNP C C T TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr16:22546262C>T ENST00000517539.1 + 8.0 2033 c.1958C>T c.(1957-1959)cCg>cTg p.P653L NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000424340.1_Missense_Mutation_p.P653L A8MRT5 NPIB5_HUMAN nuclear pore complex interacting protein family, member B5 653.0 Pro-rich. integral component of membrane (GO:0016021) AGACACCTGCCGAGCGTCTGC 0.582 0 3.0 4.0 4.0 16 22546262.0 622.0 1441.0 2063.0 SO:0001583 missense CCDS45443.1 16p12.2 2013-06-11 ENSG00000243716 ENSG00000243716 100132247.0 100132247.0 37233.0 protein-coding gene gene with protein product Standard NM_001135865 NM_001135865 Approved A8MRT5 OTTHUMG00000163573 ENST00000517539.1:c.1958C>T 16.__UNKNOWN__:g.22546262C>T ENSP00000430633:p.Pro653Leu B4DK13 __UNKNOWN__ CCDS45443.1 . . . . . . . . . . . 0.005 -2.131841 0.00338 . . ENSG00000243716 ENST00000424340;ENST00000342168;ENST00000457705;ENST00000503072;ENST00000517539 T;T 0.23348 1.91;1.91 . . . . . . . . T 0.14570 0.0352 N 0.19112 0.55 0.09310 N 1 . . . . . . T 0.34104 -0.9842 4 0.21014 T 0.42 . . . . . 646;653 F5GWX0;A8MRT5 .;K220L_HUMAN L 653;646;410;531;653 ENSP00000440703:P653L;ENSP00000430633:P653L ENSP00000441680:P646L P + 2 0 RP11-368J21.2 22453763 0.031000 0.19500 . . . . 0.064000 0.14437 . . . . CCG NPIPB5-002 NOVEL alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374343.2 + ENST00000517539.1 Missense_Mutation SNP PCPG-TCGA-QR-A70M-Normal-SM-5EQF4 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr11:533874T>C ENST00000451590.1 - 3.0 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R NM_001130442.1|NM_005343.2 NP_001123914.1|NP_005334.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61.0 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022) p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901.0 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6.0 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) yes Dom yes Costello syndrome 11 11p15.5 3265.0 v-Ha-ras Harvey rat sarcoma viral oncogene homolog """E, L, M""" 256 Substitution - Missense(256) skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1) 117.0 102.0 107.0 11 533874.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Facio-Cutaneous-Skeletal syndrome AJ437024 CCDS7698.1, CCDS7699.1 11p15.5 2014-09-17 2013-07-08 ENSG00000174775 ENSG00000174775 3265.0 3265.0 5173.0 protein-coding gene gene with protein product 190020.0 """v-Ha-ras Harvey rat sarcoma viral oncogene homolog""" HRAS1 Standard NM_176795 NM_176795 Approved uc010qvx.2 P01112 OTTHUMG00000131919 ENST00000451590.1:c.182A>G 11.__UNKNOWN__:g.533874T>C ENSP00000407586:p.Gln61Arg B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2 __UNKNOWN__ CCDS7698.1 . . . . . . . . . . T 14.48 2.546606 0.45383 . . ENSG00000174775 ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189 D;D;D;D;D 0.83673 -1.75;-1.75;-1.75;-1.75;-1.75 3.64 3.64 0.41730 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85613 0.5737 M 0.90870 3.155 0.80722 D 1 B;B 0.21071 0.051;0.008 B;B 0.22152 0.022;0.038 D 0.85970 0.1476 10 0.66056 D 0.02 . 11.8872 0.52608 0.0:0.0:0.0:1.0 . 61;61 P01112-2;P01112 .;RASH_HUMAN R 61 ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R ENSP00000309845:Q61R Q - 2 0 HRAS 523874 1.000000 0.71417 0.985000 0.45067 0.482000 0.33219 7.727000 0.84838 1.662000 0.50781 0.459000 0.35465 CAG HRAS-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259403.2 - ENST00000451590.1 Missense_Mutation SNP PCPG-TCGA-QR-A70M-Normal-SM-5EQF4 WISP1 8840 broad.mit.edu 37 8 134232871 134232871 + Missense_Mutation SNP G G A TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr8:134232871G>A ENST00000517423.1 + 3.0 410 WISP1_ENST00000220856.6_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000250160.6_Missense_Mutation_p.G133S NM_001204869.1 NP_001191798.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|extracellular space (GO:0005615) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21.0 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) CTACAACAACGGCCAGTCCTT 0.667 0 97.0 81.0 87.0 8 134232871.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AF100779 CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1 8q24.22 2007-05-14 ENSG00000104415 ENSG00000104415 8840.0 8840.0 12769.0 protein-coding gene gene with protein product 603398.0 9843955 Standard NM_003882 NM_003882 Approved CCN4 uc003yub.3 O95388 OTTHUMG00000164440 ENST00000517423.1:c.350-6783G>A 8.__UNKNOWN__:g.134232871G>A A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3 __UNKNOWN__ CCDS56555.1 . . . . . . . . . . G 28.6 4.934765 0.92458 . . ENSG00000104415 ENST00000250160 T 0.73575 -0.76 4.63 4.63 0.57726 von Willebrand factor, type C (3); 0.052098 0.85682 D 0.000000 D 0.88005 0.6321 M 0.89534 3.04 0.80722 D 1 D 0.89917 1.0 D 0.67103 0.949 D 0.91002 0.4843 10 0.87932 D 0 -8.8846 16.4485 0.83972 0.0:0.0:1.0:0.0 . 133 O95388 WISP1_HUMAN S 133 ENSP00000250160:G133S ENSP00000250160:G133S G + 1 0 WISP1 134302053 1.000000 0.71417 0.931000 0.37212 0.743000 0.42351 9.612000 0.98347 2.127000 0.65507 0.460000 0.39030 GGC WISP1-005 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000378797.1 + ENST00000517423.1 Intron SNP PCPG-TCGA-QR-A70M-Normal-SM-5EQF4 ZBTB11 27107 bcgsc.ca 37 3 101370297 101370297 + Missense_Mutation SNP T T C TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr3:101370297T>C ENST00000312938.4 - 11.0 3455 c.2875A>G c.(2875-2877)Act>Gct p.T959A NM_014415.3 NP_055230.2 O95625 ZBT11_HUMAN zinc finger and BTB domain containing 11 959.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37.0 GCCACTTGAGTTCCTTGGTTA 0.438 0 176.0 161.0 166.0 3 101370297.0 2203.0 4300.0 6503.0 SO:0001583 missense U69274 CCDS2943.1 3q12.3 2013-01-09 ENSG00000066422 ENSG00000066422 27107.0 27107.0 """-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type""" 16740.0 protein-coding gene gene with protein product Standard NM_014415 NM_014415 Approved ZNF-U69274, ZNF913 uc003dve.4 O95625 OTTHUMG00000159133 ENST00000312938.4:c.2875A>G 3.__UNKNOWN__:g.101370297T>C ENSP00000326200:p.Thr959Ala Q2NKP9 __UNKNOWN__ CCDS2943.1 . . . . . . . . . . T 25.6 4.649997 0.87958 . . ENSG00000066422 ENST00000312938 T 0.11495 2.77 5.61 5.61 0.85477 . 0.000000 0.85682 D 0.000000 T 0.20495 0.0493 N 0.24115 0.695 0.80722 D 1 D 0.76494 0.999 D 0.78314 0.991 T 0.03473 -1.1033 10 0.38643 T 0.18 -12.3485 15.8002 0.78447 0.0:0.0:0.0:1.0 . 959 O95625 ZBT11_HUMAN A 959 ENSP00000326200:T959A ENSP00000326200:T959A T - 1 0 ZBTB11 102852987 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 7.698000 0.84413 2.138000 0.66242 0.454000 0.30748 ACT ZBTB11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353441.2 - ENST00000312938.4 Missense_Mutation SNP PCPG-TCGA-QR-A70M-Normal-SM-5EQF4 MAPK7 5598 hgsc.bcm.edu 37 17 19286244 19286244 + Missense_Mutation SNP A A G TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 A A . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr17:19286244A>G ENST00000308406.5 + 6.0 2668 c.2282A>G c.(2281-2283)gAt>gGt p.D761G MAPK7_ENST00000395602.4_Missense_Mutation_p.D761G|MAPK7_ENST00000299612.7_Missense_Mutation_p.D622G|MAPK7_ENST00000395604.3_Missense_Mutation_p.D761G|MAPK7_ENST00000571657.1_3'UTR NM_139033.2 NP_620602.2 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 761.0 May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}. cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605) ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019) autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 30.0 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) GGCGTGGCTGATGGGCCACAG 0.582 0 116.0 113.0 114.0 17 19286244.0 2203.0 4300.0 6503.0 SO:0001583 missense U25278 CCDS11206.1, CCDS11207.1 17p11.2 2011-06-09 ENSG00000166484 ENSG00000166484 5598.0 5598.0 2.7.11.24 """Mitogen-activated protein kinase cascade / Kinases""" 6880.0 protein-coding gene gene with protein product """BMK1 kinase"", ""extracellular-signal-regulated kinase 5""" 602521 PRKM7 10072598, 7759517 Standard NM_139033 NM_139032 Approved BMK1, ERK5 uc002gvp.3 Q13164 OTTHUMG00000059587 ENST00000308406.5:c.2282A>G 17.__UNKNOWN__:g.19286244A>G ENSP00000311005:p.Asp761Gly Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51 __UNKNOWN__ CCDS11206.1 . . . . . . . . . . A 12.55 1.971293 0.34754 . . ENSG00000166484 ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602 T;T;T;T 0.74209 -0.56;-0.82;-0.56;-0.56 5.6 4.53 0.55603 . 0.053360 0.64402 D 0.000001 T 0.58509 0.2127 L 0.34521 1.04 0.41283 D 0.986929 B 0.18310 0.027 B 0.16289 0.015 T 0.53063 -0.8491 10 0.18276 T 0.48 -18.9632 7.4822 0.27411 0.9055:0.0:0.0945:0.0 . 761 Q13164 MK07_HUMAN G 761;622;761;761 ENSP00000311005:D761G;ENSP00000299612:D622G;ENSP00000378968:D761G;ENSP00000378966:D761G ENSP00000299612:D622G D + 2 0 MAPK7 19226837 0.827000 0.29292 0.996000 0.52242 0.987000 0.75469 1.356000 0.34079 2.134000 0.65973 0.402000 0.26972 GAT MAPK7-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000132506.1 + ENST00000308406.5 Missense_Mutation SNP PCPG-TCGA-QR-A70M-Normal-SM-5EQF4 ALS2 57679 broad.mit.edu 37 2 202619377 202619377 + Missense_Mutation SNP T T C TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr2:202619377T>C ENST00000264276.6 - 6.0 1861 c.1489A>G c.(1489-1491)Aga>Gga p.R497G NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 497.0 behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050) centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982) protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087) NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72.0 GCAGCCTTTCTTAAGAGCCTG 0.498 0 71.0 71.0 71.0 2 202619377.0 1875.0 4098.0 5973.0 SO:0001583 missense AB053305 CCDS42800.1, CCDS46492.1 2q33-q35 2014-09-17 2004-06-23 ENSG00000003393 ENSG00000003393 57679.0 57679.0 """Rho guanine nucleotide exchange factors""" 443.0 protein-coding gene gene with protein product """alsin""" 606352.0 """amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6""" ALS2CR6 11586298 Standard NM_020919 NM_020919 Approved uc002uyo.3 Q96Q42 OTTHUMG00000154507 ENST00000264276.6:c.1489A>G 2.__UNKNOWN__:g.202619377T>C ENSP00000264276:p.Arg497Gly Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9 __UNKNOWN__ CCDS42800.1 . . . . . . . . . . T 18.38 3.610966 0.66558 . . ENSG00000003393 ENST00000264276 T 0.59083 0.29 6.07 3.66 0.41972 . 0.000000 0.85682 D 0.000000 T 0.65101 0.2659 L 0.29908 0.895 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.87578 0.998;0.964;0.964 T 0.65780 -0.6085 10 0.56958 D 0.05 . 14.5777 0.68262 0.0:0.0:0.49:0.51 . 497;497;497 Q96Q42-3;Q6IQ41;Q96Q42 .;.;ALS2_HUMAN G 497 ENSP00000264276:R497G ENSP00000264276:R497G R - 1 2 ALS2 202327622 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 1.812000 0.38952 0.509000 0.28195 -0.313000 0.08912 AGA ALS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335562.3 - ENST00000264276.6 Missense_Mutation SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 PLXNA2 5362 broad.mit.edu 37 1 208212983 208212983 + Missense_Mutation SNP T T C TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr1:208212983T>C ENST00000367033.3 - 24.0 5240 c.4483A>G c.(4483-4485)Atc>Gtc p.I1495V NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1495.0 axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756) integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116) semaphorin receptor activity (GO:0017154) 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) 80.0 OV - Ovarian serous cystadenocarcinoma(81;0.199) TTGTACTCGATCTGCTGCCGG 0.582 0 86.0 90.0 89.0 1 208212983.0 2203.0 4300.0 6503.0 SO:0001583 missense X87831 CCDS31013.1 1q32.2 2008-07-18 ENSG00000076356 ENSG00000076356 5362.0 5362.0 """Plexins""" 9100.0 protein-coding gene gene with protein product """plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT""" 601054.0 PLXN2 8570614 Standard NM_025179 NM_025179 Approved OCT, FLJ11751, FLJ30634, KIAA0463 uc001hgz.3 O75051 OTTHUMG00000036564 ENST00000367033.3:c.4483A>G 1.__UNKNOWN__:g.208212983T>C ENSP00000356000:p.Ile1495Val A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1 __UNKNOWN__ CCDS31013.1 . . . . . . . . . . T 21.5 4.165272 0.78339 . . ENSG00000076356 ENST00000367033 T 0.11169 2.8 5.51 5.51 0.81932 Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1); 0.000000 0.85682 D 0.000000 T 0.25344 0.0616 L 0.42632 1.34 0.80722 D 1 D 0.54772 0.968 D 0.71184 0.972 T 0.00571 -1.1665 10 0.38643 T 0.18 . 15.6604 0.77182 0.0:0.0:0.0:1.0 . 1495 O75051 PLXA2_HUMAN V 1495 ENSP00000356000:I1495V ENSP00000356000:I1495V I - 1 0 PLXNA2 206279606 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 6.016000 0.70798 2.095000 0.63458 0.528000 0.53228 ATC PLXNA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000088932.6 - ENST00000367033.3 Missense_Mutation SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 COL11A1 1301 broad.mit.edu 37 1 103400017 103400018 + Missense_Mutation DNP TG TG GT TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr1:103400017_103400018TG>GT ENST00000370096.3 - 46.0 3899_3900 c.3587_3588CA>AC c.(3586-3588)cCA>cAC p.P1196H COL11A1_ENST00000353414.4_Missense_Mutation_p.P1157H|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1080H|COL11A1_ENST00000358392.2_Missense_Mutation_p.P1208H NM_001854.3 NP_001845.3 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1196.0 Triple-helical region. cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601) collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576) extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674) 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) 258.0 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) GAAGACCTATTGGACCAGGAGG 0.47 0 SO:0001583 missense J04177 CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1 1p21 2013-01-16 ENSG00000060718 ENSG00000060718 1301.0 1301.0 """Collagens""" 2186.0 protein-coding gene gene with protein product """collagen XI, alpha-1 polypeptide""" 120280.0 COLL6 3182841 Standard NM_080630 NM_080630 Approved STL2, CO11A1 uc001dul.3 P12107 OTTHUMG00000010872 ENST00000370096.3:c.3587_3588delinsGT 1.__UNKNOWN__:g.103400017_103400018delinsGT ENSP00000359114:p.Pro1196His B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6 __UNKNOWN__ CCDS778.1 COL11A1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000029997.1 - ENST00000370096.3 Missense_Mutation DNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 RP11-526D8.7 0 broad.mit.edu 37 9 95646900 95646900 + RNA SNP A A T TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr9:95646900A>T ENST00000446878.1 + 0.0 434 ANKRD19P_ENST00000473204.1_RNA TGCTTTCACAACTGCAGAGGT 0.612 0 ENST00000446878.1: 9.__UNKNOWN__:g.95646900A>T __UNKNOWN__ RP11-526D8.7-006 PUTATIVE basic processed_transcript pseudogene OTTHUMT00000316907.1 + ENST00000446878.1 RNA SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 CD163 9332 broad.mit.edu 37 12 7651662 7651662 + Missense_Mutation SNP A A T TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr12:7651662A>T ENST00000359156.4 - 4.0 782 c.580T>A c.(580-582)Tct>Act p.S194T CD163_ENST00000541972.1_Missense_Mutation_p.S182T|CD163_ENST00000396620.3_Missense_Mutation_p.S194T|CD163_ENST00000432237.2_Missense_Mutation_p.S194T NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 194.0 SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}. acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898) endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) scavenger receptor activity (GO:0005044) 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) 76.0 WF10(DB05389) CAAATGACAGATGCATGATCT 0.423 0 278.0 254.0 262.0 12 7651662.0 2203.0 4300.0 6503.0 SO:0001583 missense Z22968 CCDS8578.1, CCDS53742.1 12p13 2006-03-28 2006-03-28 ENSG00000177575 ENSG00000177575 9332.0 9332.0 """CD molecules""" 1631.0 protein-coding gene gene with protein product 605545.0 """CD163 antigen""" 10403791, 8370408 Standard NM_004244, NM_203416 NM_004244 Approved M130, MM130 uc001qsz.3 Q86VB7 OTTHUMG00000168353 ENST00000359156.4:c.580T>A 12.__UNKNOWN__:g.7651662A>T ENSP00000352071:p.Ser194Thr C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7 __UNKNOWN__ CCDS8578.1 . . . . . . . . . . A 8.121 0.780967 0.16120 . . ENSG00000177575 ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237 T;T;T;T 0.36157 1.27;1.27;1.27;1.27 5.16 -1.19 0.09585 Speract/scavenger receptor (2);Speract/scavenger receptor-related (2); 0.945300 0.08849 N 0.884681 T 0.19967 0.0480 N 0.21373 0.66 0.23204 N 0.998124 B;B;B 0.29378 0.153;0.002;0.243 B;B;B 0.27262 0.078;0.005;0.078 T 0.26360 -1.0105 10 0.23891 T 0.37 . 5.609 0.17394 0.2865:0.4357:0.0:0.2778 . 194;194;194 C9JHR8;Q86VB7-3;Q86VB7 .;.;C163A_HUMAN T 194;182;194;194 ENSP00000352071:S194T;ENSP00000444071:S182T;ENSP00000379863:S194T;ENSP00000403885:S194T ENSP00000352071:S194T S - 1 0 CD163 7542929 0.000000 0.05858 0.751000 0.31187 0.305000 0.27757 -0.409000 0.07160 0.013000 0.14918 0.528000 0.53228 TCT CD163-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000399396.2 - ENST00000359156.4 Missense_Mutation SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 PCDHGA6 0 broad.mit.edu 37 5 140753701 140753701 + Silent SNP C C A TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr5:140753701C>A ENST00000517434.1 + 1.0 51 c.51C>A c.(49-51)ctC>ctA p.L17L PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 17.0 homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(1)|large_intestine(1) 2.0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTGCTCCTCACGCTCCTGG 0.597 0 14.0 17.0 16.0 5 140753701.0 1997.0 4186.0 6183.0 SO:0001819 synonymous_variant AF152513 CCDS54926.1, CCDS75335.1 5q31 2010-01-26 ENSG00000253731 56109.0 56109.0 """Cadherins / Protocadherins : Clustered""" 8704.0 other protocadherin 606293.0 10380929 Standard NM_018919 NM_018919 Approved PCDH-GAMMA-A6 Q9Y5G7 ENST00000517434.1:c.51C>A 5.__UNKNOWN__:g.140753701C>A A6H8K7|B2RN55|Q9Y5D1 __UNKNOWN__ CCDS54926.1 PCDHGA6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374743.1 + ENST00000517434.1 Silent SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 WHSC1L1 54904 broad.mit.edu 37 8 38175553 38175553 + Nonsense_Mutation SNP G G T TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr8:38175553G>T ENST00000317025.8 - 9.0 2373 WHSC1L1_ENST00000527502.1_Intron|WHSC1L1_ENST00000433384.2_Intron|WHSC1L1_ENST00000316985.3_Nonsense_Mutation_p.S620*|WHSC1L1_ENST00000525081.1_5'UTR NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270) NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24.0 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) CCGGTCCGCCGACCCTGTGGA 0.557 T NUP98 AML Dom yes 8 8p12 54904.0 Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3) L 0 65.0 61.0 63.0 8 38175553.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AF332469 CCDS6105.1, CCDS43729.1 8p11.2 2013-05-20 ENSG00000147548 ENSG00000147548 54904.0 54904.0 12767.0 protein-coding gene gene with protein product 607083.0 10802047, 23269674 Standard NM_023034 NM_023034 Approved FLJ20353, NSD3 uc003xli.3 Q9BZ95 ENST00000317025.8:c.1855+859C>A 8.__UNKNOWN__:g.38175553G>T B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6 __UNKNOWN__ CCDS43729.1 . . . . . . . . . . G 41 8.572971 0.98868 . . ENSG00000147548 ENST00000316985 . . . 5.95 5.95 0.96441 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . 0.15499 T 0.54 . 15.8933 0.79318 0.0:0.0:1.0:0.0 . . . . X 620 . ENSP00000313410:S620X S - 2 0 WHSC1L1 38294710 1.000000 0.71417 1.000000 0.80357 1.000000 0.99986 1.563000 0.36364 2.824000 0.97209 0.655000 0.94253 TCG WHSC1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381924.3 - ENST00000317025.8 Intron SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 GPR98 84059 broad.mit.edu 37 5 90449066 90449066 + Missense_Mutation SNP T T C TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr5:90449066T>C ENST00000405460.2 + 89.0 18749 c.18653T>C c.(18652-18654)tTc>tCc p.F6218S GPR98_ENST00000425867.2_Missense_Mutation_p.F1879S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 6218.0 detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) 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) 269.0 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) AGAGCATCCTTCCAACAGGGC 0.493 0 45.0 43.0 44.0 5 90449066.0 1917.0 4131.0 6048.0 SO:0001583 missense AB014586 CCDS47246.1 5q13 2014-08-08 2006-05-26 2006-05-26 ENSG00000164199 ENSG00000164199 84059.0 84059.0 """-"", ""GPCR / Class B : Orphans""" 17416.0 protein-coding gene gene with protein product 602851.0 """monogenic, audiogenic seizure susceptibility 1 homolog (mouse)""" USH2C, MASS1 10976914, 14740321 Standard NM_032119 NM_032119 Approved DKFZp761P0710, KIAA0686, FEB4, VLGR1b uc003kju.3 Q8WXG9 OTTHUMG00000162668 ENST00000405460.2:c.18653T>C 5.__UNKNOWN__:g.90449066T>C ENSP00000384582:p.Phe6218Ser O75171|Q8TF58|Q9H0X5|Q9UL61 __UNKNOWN__ CCDS47246.1 . . . . . . . . . . T 19.72 3.880115 0.72294 . . ENSG00000164199 ENST00000405460;ENST00000296619;ENST00000425867 T;T 0.27557 1.71;1.66 6.07 6.07 0.98685 . 0.168751 0.44688 D 0.000421 T 0.27278 0.0669 N 0.08118 0 0.40317 D 0.978785 D;D;D 0.57571 0.966;0.966;0.98 P;P;P 0.53649 0.543;0.543;0.731 T 0.15896 -1.0421 9 . . . . 15.2117 0.73230 0.0:0.0:0.0:1.0 . 1879;6218;1879 E7EML1;Q8WXG9;Q8WXG9-2 .;GPR98_HUMAN;. S 6218;6218;1879 ENSP00000384582:F6218S;ENSP00000392618:F1879S . F + 2 0 GPR98 90484822 1.000000 0.71417 1.000000 0.80357 0.962000 0.63368 6.908000 0.75730 2.326000 0.78906 0.533000 0.62120 TTC GPR98-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000369993.2 + ENST00000405460.2 Missense_Mutation SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 CCDC40 55036 broad.mit.edu 37 17 78058656 78058656 + Missense_Mutation SNP G G A TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr17:78058656G>A ENST00000397545.4 + 13.0 2131 c.2104G>A c.(2104-2106)Gtg>Atg p.V702M CCDC40_ENST00000374877.3_Missense_Mutation_p.V702M NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 702.0 axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356) cilium (GO:0005929)|cytoplasm (GO:0005737) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38.0 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GGACCAGGACGTGAAGAAAGT 0.562 0 60.0 63.0 62.0 17 78058656.0 2130.0 4232.0 6362.0 SO:0001583 missense AB046860 CCDS42395.1, CCDS58604.1 17q25.3 2013-11-15 ENSG00000141519 ENSG00000141519 55036.0 55036.0 26090.0 protein-coding gene gene with protein product 613799.0 21131974 Standard XM_371082 NM_017950 Approved FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172 uc010dht.3 Q4G0X9 OTTHUMG00000132707 ENST00000397545.4:c.2104G>A 17.__UNKNOWN__:g.78058656G>A ENSP00000380679:p.Val702Met A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5 __UNKNOWN__ CCDS42395.1 . . . . . . . . . . G 12.38 1.919307 0.33908 . . ENSG00000141519 ENST00000374877;ENST00000397545 T;T 0.51817 0.69;0.7 5.35 4.38 0.52667 . . . . . T 0.36110 0.0955 M 0.65975 2.015 0.26834 N 0.968518 P;P 0.42296 0.775;0.676 B;B 0.29353 0.079;0.101 T 0.40961 -0.9535 9 0.35671 T 0.21 -50.2482 5.0736 0.14618 0.29:0.0:0.71:0.0 . 702;485 Q4G0X9;Q4G0X9-3 CCD40_HUMAN;. M 702 ENSP00000364011:V702M;ENSP00000380679:V702M ENSP00000364011:V702M V + 1 0 CCDC40 75673251 0.986000 0.35501 0.969000 0.41365 0.309000 0.27889 1.459000 0.35234 2.487000 0.83934 0.655000 0.94253 GTG CCDC40-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256005.2 + ENST00000397545.4 Missense_Mutation SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 WARS2 10352 broad.mit.edu 37 1 119575971 119575971 + Nonsense_Mutation SNP T T A TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr1:119575971T>A ENST00000235521.4 - 6.0 672 c.646A>T c.(646-648)Aag>Tag p.K216* WARS2_ENST00000537870.1_Nonsense_Mutation_p.K122*|WARS2_ENST00000369426.5_3'UTR NM_015836.3|NM_201263.2 NP_056651.1|NP_957715.1 Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 216.0 gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570) mitochondrial matrix (GO:0005759) ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15.0 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) GATTTTACCTTCTTCATGGAT 0.438 0 170.0 168.0 169.0 1 119575971.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained BC021722 CCDS900.1, CCDS30817.1 1p12 2011-07-01 2007-02-23 ENSG00000116874 ENSG00000116874 10352.0 10352.0 6.1.1.2 """Aminoacyl tRNA synthetases / Class I""" 12730.0 protein-coding gene gene with protein product """tryptophan tRNA ligase 2, mitochondrial""" 604733.0 10072595, 10828066 Standard NM_015836 NM_201263 Approved TrpRS uc001ehn.3 Q9UGM6 OTTHUMG00000012335 ENST00000235521.4:c.646A>T 1.__UNKNOWN__:g.119575971T>A ENSP00000235521:p.Lys216* B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0 __UNKNOWN__ CCDS900.1 . . . . . . . . . . T 27.3 4.823176 0.90873 . . ENSG00000116874 ENST00000235521;ENST00000537870 . . . 5.87 5.87 0.94306 . 0.132994 0.64402 D 0.000002 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.11794 T 0.64 -21.9079 16.27 0.82612 0.0:0.0:0.0:1.0 . . . . X 216;122 . ENSP00000235521:K216X K - 1 0 WARS2 119377494 1.000000 0.71417 1.000000 0.80357 0.963000 0.63663 7.456000 0.80751 2.248000 0.74166 0.533000 0.62120 AAG WARS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000034362.1 - ENST00000235521.4 Nonsense_Mutation SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 PIK3C2A 5286 broad.mit.edu 37 11 17111301 17111301 + Missense_Mutation SNP G G A TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr11:17111301G>A ENST00000265970.7 - 32.0 5044 c.5045C>T c.(5044-5046)gCg>gTg p.A1682V PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A1302V|PIK3C2A_ENST00000531428.1_Intron NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 1682.0 clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091) 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) 58.0 GTATGTTGCCGCAGTCAGCTG 0.428 0 142.0 132.0 136.0 11 17111301.0 2200.0 4294.0 6494.0 SO:0001583 missense Y13367 CCDS7824.1 11p15.5-p14 2012-07-13 2012-07-13 ENSG00000011405 5286.0 5286.0 2.7.1.154 8971.0 protein-coding gene gene with protein product 603601.0 """phosphoinositide-3-kinase, class 2, alpha polypeptide""" 9337861 Standard NM_002645 NM_002645 Approved PI3K-C2alpha uc001mmq.4 O00443 ENST00000265970.7:c.5045C>T 11.__UNKNOWN__:g.17111301G>A ENSP00000265970:p.Ala1682Val B0LPH2|B4E2G4|Q14CQ9 __UNKNOWN__ CCDS7824.1 . . . . . . . . . . G 19.35 3.811506 0.70797 . . ENSG00000011405 ENST00000265970;ENST00000540361 T;T 0.64803 -0.12;0.3 5.58 5.58 0.84498 . 0.099306 0.64402 D 0.000001 T 0.55114 0.1900 L 0.50333 1.59 0.54753 D 0.999989 D 0.56521 0.976 B 0.38655 0.278 T 0.62909 -0.6754 10 0.62326 D 0.03 -16.2899 14.7582 0.69583 0.0:0.0:0.8555:0.1445 . 1682 O00443 P3C2A_HUMAN V 1682;1302 ENSP00000265970:A1682V;ENSP00000438687:A1302V ENSP00000265970:A1682V A - 2 0 PIK3C2A 17067877 1.000000 0.71417 1.000000 0.80357 0.963000 0.63663 7.390000 0.79816 2.794000 0.96219 0.655000 0.94253 GCG PIK3C2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387553.1 - ENST00000265970.7 Missense_Mutation SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 TRAF2 7186 broad.mit.edu 37 9 139804402 139804402 + Missense_Mutation SNP T T G TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr9:139804402T>G ENST00000247668.2 + 6.0 611 c.559T>G c.(559-561)Tta>Gta p.L187V TRAF2_ENST00000536468.1_Missense_Mutation_p.L187V|TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000359662.3_Missense_Mutation_p.L239V NM_021138.3 NP_066961.2 Q12933 TRAF2_HUMAN TNF receptor-associated factor 2 187.0 activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209) CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151) CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17.0 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.229) OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06) CAAGTTCCCCTTAACTTGTGA 0.627 0 97.0 75.0 83.0 9 139804402.0 2203.0 4300.0 6503.0 SO:0001583 missense U12597 CCDS7013.1 9q34 2013-01-09 ENSG00000127191 ENSG00000127191 7186.0 7186.0 """RING-type (C3HC4) zinc fingers""" 12032.0 protein-coding gene gene with protein product 601895.0 7639698 Standard NM_021138 NM_021138 Approved TRAP3 uc004cjv.3 Q12933 OTTHUMG00000020952 ENST00000247668.2:c.559T>G 9.__UNKNOWN__:g.139804402T>G ENSP00000247668:p.Leu187Val A8K107|B4DPJ7|Q7Z337|Q96NT2 __UNKNOWN__ CCDS7013.1 . . . . . . . . . . T 9.803 1.181084 0.21787 . . ENSG00000127191 ENST00000536468;ENST00000429509;ENST00000247668;ENST00000359662 T;T;T;T 0.25579 1.82;1.79;1.82;1.82 4.53 -8.64 0.00874 Zinc finger, TRAF-type (1); 0.117935 0.53938 N 0.000058 T 0.11707 0.0285 N 0.25992 0.78 0.23731 N 0.996991 B;P;B 0.41102 0.384;0.738;0.006 B;P;B 0.46299 0.389;0.511;0.012 T 0.40270 -0.9572 10 0.02654 T 1 -7.7789 5.6785 0.17761 0.1007:0.4801:0.2047:0.2145 . 176;239;187 Q12933-3;Q12933-2;Q12933 .;.;TRAF2_HUMAN V 187;187;187;239 ENSP00000446414:L187V;ENSP00000406524:L187V;ENSP00000247668:L187V;ENSP00000352685:L239V ENSP00000247668:L187V L + 1 2 TRAF2 138924223 0.000000 0.05858 0.038000 0.18304 0.430000 0.31655 -1.218000 0.02976 -1.783000 0.01274 -0.441000 0.05720 TTA TRAF2-007 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055166.1 + ENST00000247668.2 Missense_Mutation SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 LRRC7 57554 broad.mit.edu 37 1 70504190 70504190 + Missense_Mutation SNP G G A TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr1:70504190G>A ENST00000035383.5 + 19.0 2599 c.2569G>A c.(2569-2571)Gct>Act p.A857T LRRC7_ENST00000415775.2_Missense_Mutation_p.A141T|LRRC7_ENST00000310961.5_Missense_Mutation_p.A862T NM_020794.2 NP_065845.1 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 857.0 cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211) p.A857T(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) 162.0 AGACAGGACCGCTTTTCCTTC 0.468 1 Substitution - Missense(1) endometrium(1) 80.0 89.0 86.0 1 70504190.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS645.1 1p31.1 2008-02-05 ENSG00000033122 ENSG00000033122 57554.0 57554.0 18531.0 protein-coding gene gene with protein product 614453.0 12525888 Standard NM_020794 NM_020794 Approved KIAA1365, densin-180 uc001dep.3 Q96NW7 OTTHUMG00000059194 ENST00000035383.5:c.2569G>A 1.__UNKNOWN__:g.70504190G>A ENSP00000035383:p.Ala857Thr Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2 __UNKNOWN__ CCDS645.1 . . . . . . . . . . G 23.6 4.437615 0.83885 . . ENSG00000033122 ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957 T;T;T 0.56275 0.47;0.57;1.68 5.92 5.92 0.95590 . 0.000000 0.85682 D 0.000000 T 0.62563 0.2438 L 0.53249 1.67 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.87578 0.998;0.996;0.99 T 0.53258 -0.8464 10 0.28530 T 0.3 . 19.3033 0.94151 0.0:0.0:1.0:0.0 . 141;857;857 F8WE45;Q96NW7-2;Q96NW7 .;.;LRRC7_HUMAN T 862;857;141;680 ENSP00000309245:A862T;ENSP00000035383:A857T;ENSP00000394867:A141T ENSP00000035383:A857T A + 1 0 LRRC7 70276778 1.000000 0.71417 0.998000 0.56505 0.857000 0.48899 9.447000 0.97595 2.809000 0.96659 0.467000 0.42956 GCT LRRC7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000131261.1 + ENST00000035383.5 Missense_Mutation SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 OR52D1 390066 broad.mit.edu 37 11 5510364 5510364 + Missense_Mutation SNP T T A TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr11:5510364T>A ENST00000322641.5 + 1.0 450 c.428T>A c.(427-429)gTc>gAc p.V143D AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 143.0 detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22.0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AACCATGCTGTCATAGGCAGA 0.483 0 265.0 247.0 253.0 11 5510364.0 2201.0 4297.0 6498.0 SO:0001583 missense BK004276 CCDS31384.1 11p15.4 2012-08-09 ENSG00000181609 ENSG00000181609 390066.0 390066.0 """GPCR / Class A : Olfactory receptors""" 15212.0 protein-coding gene gene with protein product Standard NM_001005163 NM_001005163 Approved uc010qzg.2 Q9H346 OTTHUMG00000066895 ENST00000322641.5:c.428T>A 11.__UNKNOWN__:g.5510364T>A ENSP00000326232:p.Val143Asp B9EGY9|Q6IFI6 __UNKNOWN__ CCDS31384.1 . . . . . . . . . . T 15.22 2.769300 0.49680 . . ENSG00000181609 ENST00000322641 T 0.39229 1.09 5.58 5.58 0.84498 GPCR, rhodopsin-like superfamily (1); 0.242522 0.30285 N 0.009964 T 0.55737 0.1939 M 0.89840 3.065 0.31530 N 0.661358 P 0.40302 0.712 P 0.47015 0.534 T 0.71206 -0.4661 10 0.87932 D 0 . 5.8667 0.18779 0.0:0.0822:0.1688:0.7491 . 143 Q9H346 O52D1_HUMAN D 143 ENSP00000326232:V143D ENSP00000326232:V143D V + 2 0 OR52D1 5466940 0.000000 0.05858 0.966000 0.40874 0.893000 0.52053 0.588000 0.23924 2.343000 0.79666 0.533000 0.62120 GTC OR52D1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000143372.1 + ENST00000322641.5 Missense_Mutation SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 VHL 7428 broad.mit.edu 37 3 10188286 10188286 + Missense_Mutation SNP C C G TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr3:10188286C>G ENST00000256474.2 + 2.0 1269 c.429C>G c.(427-429)gaC>gaG p.D143E VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 143.0 Involved in binding to CCT complex. D -> E (in VHLD; type II). {ECO:0000269|PubMed:8825918}. cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842) p.G144fs*14(4)|p.D143E(2)|p.D143fs*16(2)|p.V142fs*30(1)|p.Q145fs*30(1)|p.D143fs*29(1)|p.N141fs*30(1)|p.S139fs*12(1)|p.G144fs*19(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769.0 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) TCAATGTTGACGGACAGCCTA 0.423 1.0 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia yes Rec yes von Hippel-Lindau syndrome 3 3p25 7428.0 von Hippel-Lindau syndrome gene """E, M, O""" 14 Deletion - Frameshift(11)|Substitution - Missense(2)|Insertion - Frameshift(1) kidney(13)|adrenal_gland(1) GRCh37 CD951875 VHL D 219.0 202.0 208.0 3 10188286.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database VHL; ;Erythrocytosis, Familial type 2 L15409 CCDS2597.1, CCDS2598.1 3p25.3 2014-09-17 2012-02-23 ENSG00000134086 ENSG00000134086 7428.0 7428.0 12687.0 protein-coding gene gene with protein product 608537.0 """von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor""" 9671762 Standard NM_000551 NM_000551 Approved VHL1 uc003bvc.3 P40337 OTTHUMG00000128668 ENST00000256474.2:c.429C>G 3.__UNKNOWN__:g.10188286C>G ENSP00000256474:p.Asp143Glu B2RE45|Q13599|Q6PDA9 __UNKNOWN__ CCDS2597.1 . . . . . . . . . . C 12.49 1.952917 0.34471 . . ENSG00000134086 ENST00000256474;ENST00000450183 D 0.99823 -6.95 5.07 -2.72 0.05968 von Hippel-Lindau disease tumor suppressor, beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2); 0.344265 0.32719 N 0.005731 D 0.98235 0.9416 N 0.19112 0.55 0.80722 D 1 B 0.17268 0.021 B 0.17979 0.02 D 0.93621 0.6948 10 0.20519 T 0.43 0.1775 11.0594 0.47938 0.0:0.5225:0.0:0.4775 . 143 P40337 VHL_HUMAN E 143;61 ENSP00000256474:D143E ENSP00000256474:D143E D + 3 2 VHL 10163286 0.996000 0.38824 0.987000 0.45799 0.861000 0.49209 0.102000 0.15272 -0.425000 0.07371 -0.471000 0.05019 GAC VHL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250559.1 + ENST00000256474.2 Missense_Mutation SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 ITCH 83737 broad.mit.edu 37 20 32996466 32996466 + Missense_Mutation SNP C C A TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr20:32996466C>A ENST00000374864.4 + 4.0 293 c.80C>A c.(79-81)gCa>gAa p.A27E ITCH_ENST00000535650.1_Intron|ITCH_ENST00000262650.6_Missense_Mutation_p.A27E 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 27.0 C2. {ECO:0000255|PROSITE- ProRule:PRU00041}. apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842) NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36.0 GTCATCTCAGCAAAACTTAAG 0.318 0 69.0 65.0 66.0 20 32996466.0 2203.0 4300.0 6503.0 SO:0001583 missense AF095745 CCDS13234.1, CCDS58768.1, CCDS58769.1 20q11.22 2014-09-17 2012-02-23 ENSG00000078747 ENSG00000078747 83737.0 83737.0 13890.0 protein-coding gene gene with protein product 606409.0 """itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)""" 11318614 Standard NM_001257137 Approved AIP4 uc010geu.2 Q96J02 OTTHUMG00000032300 ENST00000374864.4:c.80C>A 20.__UNKNOWN__:g.32996466C>A ENSP00000363998:p.Ala27Glu A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5 __UNKNOWN__ CCDS13234.1 . . . . . . . . . . C 28.7 4.947214 0.92593 . . ENSG00000078747 ENST00000374864;ENST00000262650 T;T 0.80994 -1.44;-1.44 5.35 5.35 0.76521 C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1); 1.118330 0.06806 N 0.789566 D 0.93723 0.7994 M 0.94101 3.495 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.89411 0.3703 10 0.87932 D 0 . 18.6638 0.91481 0.0:1.0:0.0:0.0 . 27;27 Q96J02;Q5QP37 ITCH_HUMAN;. E 27 ENSP00000363998:A27E;ENSP00000262650:A27E ENSP00000262650:A27E A + 2 0 ITCH 32460127 1.000000 0.71417 1.000000 0.80357 0.979000 0.70002 7.418000 0.80167 2.522000 0.85027 0.655000 0.94253 GCA ITCH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078782.1 + ENST00000374864.4 Missense_Mutation SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 ZFC3H1 196441 broad.mit.edu 37 12 72030395 72030395 + Frame_Shift_Del DEL G G - TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr12:72030395delG ENST00000378743.3 - 9.0 2333 c.1975delC c.(1975-1977)ctgfs p.L659fs NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 659.0 RNA processing (GO:0006396) extracellular space (GO:0005615)|intracellular (GO:0005622) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) 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) 69.0 GAATTGTTCAGAACTGGAGGT 0.383 0 164.0 153.0 157.0 12 72030395.0 1901.0 4124.0 6025.0 SO:0001589 frameshift_variant AB011118 CCDS41813.1 12q21.1 2013-01-25 2008-10-01 2008-10-01 ENSG00000133858 196441.0 196441.0 """Zinc finger, C3H1-type containing""" 28328.0 protein-coding gene gene with protein product """proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131""" PSRC2, CCDC131 9628581 Standard NM_144982 NM_144982 Approved MGC23401, KIAA0546 uc001swo.2 O60293 OTTHUMG00000169545 ENST00000378743.3:c.1975delC 12.__UNKNOWN__:g.72030395delG ENSP00000368017:p.Leu659fs Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7 __UNKNOWN__ CCDS41813.1 ZFC3H1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404751.1 - ENST00000378743.3 Frame_Shift_Del DEL PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 ACOX3 8310 ucsc.edu 37 4 8411957 8411957 + Silent SNP C C T rs145260302 byFrequency TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr4:8411957C>T ENST00000356406.5 - 6.0 746 c.669G>A c.(667-669)ctG>ctA p.L223L ACOX3_ENST00000503233.1_Silent_p.L223L|ACOX3_ENST00000413009.2_Silent_p.L223L NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 223.0 cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281) membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42.0 TAAAGGGATGCAGCCCATGGC 0.562 0 C , 3,4403 6.2+/-15.9 0,3,2200 84.0 69.0 74.0 669,669 2.4 1.0 4 dbSNP_134 74.0 0,8600 0,0,4300 no coding-synonymous,coding-synonymous ACOX3 NM_001101667.1,NM_003501.2 , 0,3,6500 TT,TC,CC 0.0,0.0681,0.0231 , 223/625,223/701 8411957.0 3,13003 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant Y11411 CCDS3401.1, CCDS47017.1 4p15.3 2010-04-30 2010-04-30 ENSG00000087008 ENSG00000087008 8310.0 8310.0 1.3.3.6 121.0 protein-coding gene gene with protein product 603402 """acyl-Coenzyme A oxidase 3, pristanoyl""" 9271077 Standard NM_003501 Approved uc003glc.4 O15254 OTTHUMG00000090509 ENST00000356406.5:c.669G>A 4.__UNKNOWN__:g.8411957C>T Q96AJ8 __UNKNOWN__ CCDS3401.1 ACOX3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000206997.4 - ENST00000356406.5 Silent SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 IQGAP2 10788 ucsc.edu 37 5 75998390 75998390 + Missense_Mutation SNP T T C TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr5:75998390T>C ENST00000274364.6 + 35.0 4886 c.4589T>C c.(4588-4590)aTg>aCg p.M1530T CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000508410.1_3'UTR|IQGAP2_ENST00000502745.1_Missense_Mutation_p.M1026T|IQGAP2_ENST00000379730.3_Missense_Mutation_p.M1032T|IQGAP2_ENST00000396234.3_Missense_Mutation_p.M1026T NM_006633.2 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1530.0 M -> I. {ECO:0000269|PubMed:23033978}. negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902) actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099) 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) 68.0 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GGTGTTGAGATGGAAAAGGTG 0.363 0 122.0 118.0 119.0 5 75998390.0 2203.0 4300.0 6503.0 SO:0001583 missense U51903 CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1 5q 2008-07-18 ENSG00000145703 ENSG00000145703 10788.0 10788.0 6111.0 protein-coding gene gene with protein product 605401 8756646 Standard NM_006633 XM_005248409 Approved uc003kek.3 Q13576 OTTHUMG00000162432 ENST00000274364.6:c.4589T>C 5.__UNKNOWN__:g.75998390T>C ENSP00000274364:p.Met1530Thr A8K4V1|B7Z8A4|J3KR91 __UNKNOWN__ CCDS34188.1 . . . . . . . . . . T 22.9 4.343776 0.82022 . . ENSG00000145703 ENST00000274364;ENST00000379730;ENST00000396234;ENST00000502745 T;T;T;T 0.02863 4.23;4.13;4.13;4.13 5.41 5.41 0.78517 . 0.037643 0.85682 D 0.000000 T 0.15219 0.0367 M 0.80982 2.52 0.80722 D 1 D;D;D 0.58970 0.98;0.98;0.984 D;D;P 0.65010 0.931;0.931;0.856 T 0.00199 -1.1928 10 0.62326 D 0.03 -36.3989 15.4411 0.75184 0.0:0.0:0.0:1.0 . 1032;1026;1530 F5H7S7;Q13576-2;Q13576 .;.;IQGA2_HUMAN T 1530;1032;1026;1026 ENSP00000274364:M1530T;ENSP00000442313:M1032T;ENSP00000379535:M1026T;ENSP00000426027:M1026T ENSP00000274364:M1530T M + 2 0 IQGAP2 76034146 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 7.997000 0.88414 2.060000 0.61445 0.533000 0.62120 ATG IQGAP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000368877.1 + ENST00000274364.6 Missense_Mutation SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 IQSEC1 9922 ucsc.edu 37 3 12966214 12966214 + Missense_Mutation SNP T T C TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr3:12966214T>C ENST00000273221.4 - 4.0 1855 c.1639A>G c.(1639-1641)Atc>Gtc p.I547V NM_014869.5 NP_055684.3 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 547.0 SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}. actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012) cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730) ARF guanyl-nucleotide exchange factor activity (GO:0005086) breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24.0 CCACGCTCGATGAGGTACTGG 0.667 0 71.0 71.0 71.0 3 12966214.0 2203.0 4300.0 6503.0 SO:0001583 missense BC010267 CCDS33703.1, CCDS74902.1 3p25.2 2011-09-23 ENSG00000144711 ENSG00000144711 9922.0 9922.0 29112.0 protein-coding gene gene with protein product """brefeldin A-resistant ARF-GEF2""" 610166 9872452, 8619474 Standard NM_014869 NM_001134382 Approved KIAA0763, GEP100, BRAG2, ARF-GEP100 uc011auw.2 Q6DN90 OTTHUMG00000155398 ENST00000273221.4:c.1639A>G 3.__UNKNOWN__:g.12966214T>C ENSP00000273221:p.Ile547Val O94863|Q96D85 __UNKNOWN__ CCDS33703.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 16.64|16.64 3.180020|3.180020 0.57800|0.57800 .|. .|. ENSG00000144711|ENSG00000144711 ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247 .|T;T .|0.49139 .|0.79;0.79 4.28|4.28 4.28|4.28 0.50868|0.50868 .|SEC7-like (4); .|0.131371 .|0.50627 .|D .|0.000109 T|T 0.46964|0.46964 0.1420|0.1420 .|. .|. .|. 0.58432|0.58432 D|D 0.999996|0.999996 .|B;B;B .|0.24618 .|0.107;0.095;0.061 .|B;B;B .|0.35312 .|0.2;0.141;0.145 T|T 0.49781|0.49781 -0.8903|-0.8903 4|9 .|0.52906 .|T .|0.07 .|. 13.6929|13.6929 0.62559|0.62559 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. .|533;533;547 .|E9PG60;C9JMG9;Q6DN90 .|.;.;IQEC1_HUMAN R|V 547|547;533;533 .|ENSP00000273221:I547V;ENSP00000402299:I533V .|ENSP00000273221:I547V H|I -|- 2|1 0|0 IQSEC1|IQSEC1 12941214|12941214 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.992000|0.992000 0.81027|0.81027 6.224000|6.224000 0.72265|0.72265 1.694000|1.694000 0.51137|0.51137 0.533000|0.533000 0.62120|0.62120 CAT|ATC IQSEC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000339865.2 - ENST00000273221.4 Missense_Mutation SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 LCA5L 150082 ucsc.edu 37 21 40795072 40795072 + Missense_Mutation SNP T T C TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr21:40795072T>C ENST00000358268.2 - 5.0 1195 c.667A>G c.(667-669)Act>Gct p.T223A LCA5L_ENST00000485895.2_Missense_Mutation_p.T223A|LCA5L_ENST00000288350.3_Missense_Mutation_p.T223A|LCA5L_ENST00000380671.2_Missense_Mutation_p.T223A O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 223.0 breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 24.0 Prostate(19;1.2e-06) CTAGATAGAGTTCTTTCCTTT 0.353 0 117.0 117.0 117.0 21 40795072.0 2202.0 4299.0 6501.0 SO:0001583 missense AF121781 CCDS13665.1 21q22.2 2007-12-18 2007-12-18 2007-12-18 ENSG00000157578 ENSG00000157578 150082.0 150082.0 1255.0 protein-coding gene gene with protein product """chromosome 21 open reading frame 13""" C21orf13 Standard NM_152505 XM_005260926 Approved MGC33295 uc002yxu.3 O95447 OTTHUMG00000066280 ENST00000358268.2:c.667A>G 21.__UNKNOWN__:g.40795072T>C ENSP00000351008:p.Thr223Ala D3DSI0|Q3ZCT0 __UNKNOWN__ CCDS13665.1 . . . . . . . . . . T 5.785 0.329101 0.10956 . . ENSG00000157578 ENST00000288350;ENST00000380671;ENST00000358268 T;T;T 0.75938 -0.98;-0.98;-0.98 5.06 -1.79 0.07932 . 1.656620 0.02946 N 0.141075 T 0.46521 0.1397 N 0.02802 -0.49 0.09310 N 1 B 0.09022 0.002 B 0.06405 0.002 T 0.46076 -0.9217 10 0.07325 T 0.83 0.4825 7.0854 0.25254 0.0:0.3547:0.116:0.5293 . 223 O95447 LCA5L_HUMAN A 223 ENSP00000288350:T223A;ENSP00000370046:T223A;ENSP00000351008:T223A ENSP00000288350:T223A T - 1 0 LCA5L 39716942 0.000000 0.05858 0.013000 0.15412 0.469000 0.32828 -0.302000 0.08221 -0.506000 0.06558 0.533000 0.62120 ACT LCA5L-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000141807.2 - ENST00000358268.2 Missense_Mutation SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 RABL6 55684 ucsc.edu 37 9 139733381 139733381 + Missense_Mutation SNP G G A TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr9:139733381G>A ENST00000311502.7 + 11.0 1537 c.1301G>A c.(1300-1302)gGc>gAc p.G434D RABL6_ENST00000432842.2_Missense_Mutation_p.G396D|RABL6_ENST00000371663.4_Missense_Mutation_p.G435D|RABL6_ENST00000371675.3_Missense_Mutation_p.G319D|RABL6_ENST00000357466.2_Intron Q3YEC7 RABL6_HUMAN RAB, member RAS oncogene family-like 6 434.0 small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|nucleus (GO:0005634) GTP binding (GO:0005525) GCCCTGGGCGGCAACCCGATG 0.682 0 14.0 17.0 16.0 9 139733381.0 1949.0 4136.0 6085.0 SO:0001583 missense AK094382 CCDS48058.1, CCDS55352.1, CCDS55353.1 9q34.3 2012-06-28 2012-06-28 2012-06-28 ENSG00000196642 ENSG00000196642 55684.0 55684.0 24703.0 protein-coding gene gene with protein product """Rab-like protein 1"", ""partner of ARF""" 610615 """chromosome 9 open reading frame 86""" C9orf86 14702039, 16582619, 17962191, 19433581 Standard NM_024718 NM_024718 Approved FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1 uc004cjj.1 Q3YEC7 OTTHUMG00000020947 ENST00000311502.7:c.1301G>A 9.__UNKNOWN__:g.139733381G>A ENSP00000311134:p.Gly434Asp A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935 __UNKNOWN__ CCDS48058.1 . . . . . . . . . . . 15.80 2.940626 0.52972 . . ENSG00000196642 ENST00000371663;ENST00000311502;ENST00000432842;ENST00000371675;ENST00000435930 T;T;T;T;T 0.73681 -0.33;-0.34;0.63;-0.37;-0.77 4.4 4.4 0.53042 . 0.266206 0.36628 N 0.002497 D 0.82820 0.5120 M 0.72894 2.215 0.39517 D 0.968452 D;D;D 0.76494 0.999;0.998;0.997 D;D;P 0.66351 0.913;0.943;0.879 D 0.85025 0.0914 10 0.59425 D 0.04 -21.2603 11.5773 0.50869 0.0:0.1811:0.8189:0.0 . 228;435;434 B1AMX5;Q3YEC7-2;Q3YEC7 .;.;PARF_HUMAN D 435;434;396;319;228 ENSP00000360727:G435D;ENSP00000311134:G434D;ENSP00000414081:G396D;ENSP00000360740:G319D;ENSP00000408442:G228D ENSP00000311134:G434D G + 2 0 C9orf86 138853202 1.000000 0.71417 0.832000 0.32986 0.042000 0.13812 3.861000 0.56002 2.003000 0.58678 0.313000 0.20887 GGC RABL6-009 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000055141.4 + ENST00000311502.7 Missense_Mutation SNP PCPG-TCGA-QR-A70N-Normal-SM-5EQF7 OR2A2 442361 broad.mit.edu 37 7 143807200 143807200 + Missense_Mutation SNP C C A TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr7:143807200C>A ENST00000408979.2 + 1.0 594 c.525C>A c.(523-525)caC>caA p.H175Q NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 175.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22.0 Melanoma(164;0.0783) ATGTGAACCACCTCTTCTGTG 0.522 0 108.0 108.0 108.0 7 143807200.0 1974.0 4162.0 6136.0 SO:0001583 missense CCDS43671.1 7q35 2013-09-20 2004-03-10 ENSG00000221989 ENSG00000221989 442361.0 442361.0 """GPCR / Class A : Olfactory receptors""" 8230.0 protein-coding gene gene with protein product OR2A2P, OR2A17P Standard NM_001005480 Approved OST008 uc011ktz.2 Q6IF42 OTTHUMG00000158001 ENST00000408979.2:c.525C>A 7.__UNKNOWN__:g.143807200C>A ENSP00000386209:p.His175Gln B2RN85|Q8NGT6 __UNKNOWN__ CCDS43671.1 . . . . . . . . . . C 14.23 2.474182 0.43942 . . ENSG00000221989 ENST00000408979 T 0.00137 8.68 3.3 3.3 0.37823 GPCR, rhodopsin-like superfamily (1); 0.000000 0.35378 U 0.003259 T 0.00300 0.0009 M 0.73962 2.25 0.21782 N 0.999545 B 0.30068 0.267 P 0.45712 0.491 T 0.06534 -1.0821 10 0.72032 D 0.01 -12.5259 6.5506 0.22431 0.0:0.8635:0.0:0.1365 . 175 Q6IF42 OR2A2_HUMAN Q 175 ENSP00000386209:H175Q ENSP00000386209:H175Q H + 3 2 OR2A2 143438133 0.000000 0.05858 0.997000 0.53966 0.725000 0.41563 -0.339000 0.07832 1.852000 0.53769 0.511000 0.50034 CAC OR2A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000349978.1 + ENST00000408979.2 Missense_Mutation SNP PCPG-TCGA-QR-A70O-Normal-SM-5EQFT NUP107 57122 broad.mit.edu 37 12 69115645 69115645 + Missense_Mutation SNP G G A TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr12:69115645G>A ENST00000539906.1 + 16.0 1493 c.1249G>A c.(1249-1251)Gaa>Aaa p.E417K NUP107_ENST00000378905.2_Missense_Mutation_p.E295K|NUP107_ENST00000229179.4_Missense_Mutation_p.E446K P57740 NU107_HUMAN nucleoporin 107kDa 446.0 carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634) nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056) NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39.0 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) TGACACCTGGGAAGACACAGT 0.438 0 100.0 101.0 101.0 12 69115645.0 2203.0 4300.0 6503.0 SO:0001583 missense AK055629 CCDS8985.1 12q14 2004-03-19 ENSG00000111581 ENSG00000111581 57122.0 57122.0 29914.0 protein-coding gene gene with protein product 607617.0 12552102, 12705868 Standard NM_020401 XM_005269037 Approved NUP84 uc001suf.3 P57740 OTTHUMG00000169265 ENST00000539906.1:c.1249G>A 12.__UNKNOWN__:g.69115645G>A ENSP00000441448:p.Glu417Lys B4DZ67|Q6PJE1 __UNKNOWN__ . . . . . . . . . . G 33 5.232644 0.95207 . . ENSG00000111581 ENST00000229179;ENST00000378905;ENST00000539906 . . . 5.02 5.02 0.67125 . 0.000000 0.85682 D 0.000000 T 0.72755 0.3500 L 0.52905 1.665 0.80722 D 1 D;P;D 0.60575 0.988;0.771;0.988 P;P;P 0.59761 0.863;0.667;0.863 T 0.71441 -0.4592 8 . . . -22.667 18.7181 0.91684 0.0:0.0:1.0:0.0 . 417;295;446 B4DZ67;Q6PJE1;P57740 .;.;NU107_HUMAN K 446;295;417 . . E + 1 0 NUP107 67401912 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 9.230000 0.95299 2.519000 0.84933 0.455000 0.32223 GAA NUP107-003 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000403200.1 + ENST00000539906.1 Missense_Mutation SNP PCPG-TCGA-QR-A70O-Normal-SM-5EQFT SLC27A4 10999 broad.mit.edu 37 9 131118065 131118065 + Silent SNP G G A TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr9:131118065G>A ENST00000300456.4 + 12.0 1881 c.1764G>A c.(1762-1764)ctG>ctA p.L588L SLC27A4_ENST00000372870.1_Silent_p.L182L NM_005094.3 NP_005085.2 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid transporter), member 4 588.0 fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760) brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886) fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957) autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2) 13.0 TGCCTGAGCTGCACAAAACAG 0.612 Pancreas(107;1554 2241 10946 12953) 0 85.0 73.0 77.0 9 131118065.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF055899 CCDS6899.1 9q34.13 2013-05-22 ENSG00000167114 ENSG00000167114 10999.0 10999.0 """Acyl-CoA synthetase family"", ""Solute carriers""" 10998.0 protein-coding gene gene with protein product 604194.0 9878842 Standard NM_005094 Approved FATP4, ACSVL4 uc004but.3 Q6P1M0 OTTHUMG00000020746 ENST00000300456.4:c.1764G>A 9.__UNKNOWN__:g.131118065G>A A8K2F7|O95186|Q96G53 __UNKNOWN__ CCDS6899.1 SLC27A4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054432.2 + ENST00000300456.4 Silent SNP PCPG-TCGA-QR-A70O-Normal-SM-5EQFT LEFTY1 10637 broad.mit.edu 37 1 226076584 226076584 + Silent SNP G G A TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr1:226076584G>A ENST00000272134.5 - 1.0 262 c.183C>T c.(181-183)taC>taT p.Y61Y RP4-559A3.7_ENST00000432920.2_Intron|LEFTY1_ENST00000492457.1_Intron NM_020997.3 NP_066277.1 O75610 LFTY1_HUMAN left-right determination factor 1 61.0 cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179) extracellular space (GO:0005615) cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 10.0 Breast(184;0.197) GCAGGGCCACGTACTGGGCCC 0.697 0 31.0 33.0 32.0 1 226076584.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant AF081507 CCDS1548.1 1q42.1 2008-02-05 2004-11-17 2004-11-17 ENSG00000243709 ENSG00000243709 10637.0 10637.0 6552.0 protein-coding gene gene with protein product 603037.0 """left-right determination, factor B""" LEFTB 10053005, 10886363 Standard NM_020997 NM_020997 Approved LEFTYB uc001hpo.3 O75610 OTTHUMG00000037443 ENST00000272134.5:c.183C>T 1.__UNKNOWN__:g.226076584G>A B2R7U0|Q53H67|Q5TE94 __UNKNOWN__ CCDS1548.1 LEFTY1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000091155.1 - ENST00000272134.5 Silent SNP PCPG-TCGA-QR-A70O-Normal-SM-5EQFT TIMELESS 8914 broad.mit.edu 37 12 56822781 56822781 + Missense_Mutation SNP C C A TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr12:56822781C>A ENST00000553532.1 - 11.0 1340 c.1190G>T c.(1189-1191)gGc>gTc p.G397V TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Missense_Mutation_p.G396V timeless circadian clock 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) 49.0 AGAAACCAGGCCTGGCCGGAA 0.537 0 110.0 98.0 102.0 12 56822781.0 2203.0 4300.0 6503.0 SO:0001583 missense AF098162 CCDS8918.1 12q13.3 2012-12-14 2012-12-14 ENSG00000111602 ENSG00000111602 8914.0 8914.0 11813.0 protein-coding gene gene with protein product """Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1""" 603887.0 """timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)""" 9856465 Standard NM_003920 NM_003920 Approved hTIM, TIM, TIM1 uc001slf.2 Q9UNS1 OTTHUMG00000170600 ENST00000553532.1:c.1190G>T 12.__UNKNOWN__:g.56822781C>A ENSP00000450607:p.Gly397Val __UNKNOWN__ CCDS8918.1 . . . . . . . . . . C 12.25 1.881730 0.33255 . . ENSG00000111602 ENST00000229201;ENST00000553532 T;T 0.08102 3.13;3.13 5.47 4.58 0.56647 . 0.163844 0.53938 D 0.000052 T 0.09291 0.0229 L 0.46157 1.445 0.80722 D 1 B;B 0.24132 0.098;0.059 B;B 0.32928 0.155;0.074 T 0.14476 -1.0471 10 0.41790 T 0.15 -12.5298 6.1851 0.20493 0.0:0.6657:0.1792:0.155 . 396;397 Q9UNS1-2;Q9UNS1 .;TIM_HUMAN V 396;397 ENSP00000229201:G396V;ENSP00000450607:G397V ENSP00000229201:G397V G - 2 0 TIMELESS 55109048 1.000000 0.71417 1.000000 0.80357 0.647000 0.38526 3.079000 0.50104 1.431000 0.47355 -0.321000 0.08615 GGC TIMELESS-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000409771.1 - ENST00000553532.1 Missense_Mutation SNP PCPG-TCGA-QR-A70O-Normal-SM-5EQFT CAPG 822 broad.mit.edu 37 2 85628999 85628999 + Silent SNP C C T TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr2:85628999C>T ENST00000409921.1 - 3.0 171 c.105G>A c.(103-105)gcG>gcA p.A35A CAPG_ENST00000409670.1_Silent_p.A35A|CAPG_ENST00000263867.4_Silent_p.A35A|CAPG_ENST00000409724.1_Silent_p.A35A Q9BPX3 CND3_HUMAN capping protein (actin filament), gelsolin-like 0.0 mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076) actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6) 11.0 GGTTCTCTTGCGCCACAGGCA 0.597 0 95.0 93.0 93.0 2 85628999.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant M94345 CCDS1974.1, CCDS58715.1 2p11.2 2008-06-04 ENSG00000042493 ENSG00000042493 822.0 822.0 1474.0 protein-coding gene gene with protein product """macrophage capping protein""" 153615.0 AFCP 1322908, 12754261 Standard NM_001747 NM_001747 Approved MCP uc010fgi.2 P40121 OTTHUMG00000130183 ENST00000409921.1:c.105G>A 2.__UNKNOWN__:g.85628999C>T Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9 __UNKNOWN__ CCDS58715.1 CAPG-004 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000329383.1 - ENST00000409921.1 Silent SNP PCPG-TCGA-QR-A70O-Normal-SM-5EQFT CYP2B7P1 0 broad.mit.edu 37 19 41447337 41447337 + RNA SNP C C T TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr19:41447337C>T ENST00000599198.1 + 0.0 836 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12.0 CCCAGCGCCCCCAGGGACCTC 0.557 0 ENST00000599198.1: 19.__UNKNOWN__:g.41447337C>T __UNKNOWN__ . . . . . . . . . . C 16.53 3.147859 0.57151 . . ENSG00000256612 ENST00000541697 . . . 3.33 3.33 0.38152 . 0.000000 0.85682 D 0.000000 T 0.74084 0.3670 . . . . . . D 0.89917 1.0 D 0.97110 1.0 T 0.82559 -0.0397 7 0.72032 D 0.01 . 12.5332 0.56128 0.0:1.0:0.0:0.0 . 261 B6A7R5 . L 261 . ENSP00000441190:P261L P + 2 0 AC008537.4 46139177 0.969000 0.33509 0.017000 0.16124 0.095000 0.18619 2.593000 0.46180 1.875000 0.54330 0.423000 0.28283 CCC CYP2B7P1-006 KNOWN basic processed_transcript pseudogene OTTHUMT00000465180.1 + ENST00000599198.1 RNA SNP PCPG-TCGA-QR-A70O-Normal-SM-5EQFT KIAA0247 9766 broad.mit.edu 37 14 70170160 70170160 + Missense_Mutation SNP C C T TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr14:70170160C>T ENST00000342745.4 + 3.0 483 c.170C>T c.(169-171)cCc>cTc p.P57L NM_014734.3 NP_055549.1 Q92537 K0247_HUMAN KIAA0247 57.0 Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}. integral component of membrane (GO:0016021) endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1) 10.0 all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196) ATCTGCCACCCCCGGCCCTGC 0.567 0 77.0 78.0 78.0 14 70170160.0 2203.0 4300.0 6503.0 SO:0001583 missense D87434 CCDS9796.1 14q24.1 2012-11-29 ENSG00000100647 ENSG00000100647 9766.0 9766.0 19956.0 protein-coding gene gene with protein product 9039502 Standard NM_014734 NM_014734 Approved uc001xlk.3 Q92537 OTTHUMG00000171234 ENST00000342745.4:c.170C>T 14.__UNKNOWN__:g.70170160C>T ENSP00000344424:p.Pro57Leu __UNKNOWN__ CCDS9796.1 . . . . . . . . . . C 35 5.427403 0.96131 . . ENSG00000100647 ENST00000342745 T 0.63744 -0.06 5.9 5.9 0.94986 Complement control module (2);Sushi/SCR/CCP (3); 0.000000 0.85682 D 0.000000 T 0.81312 0.4796 M 0.78801 2.425 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.82153 -0.0598 10 0.87932 D 0 -22.1116 20.2631 0.98458 0.0:1.0:0.0:0.0 . 57 Q92537 K0247_HUMAN L 57 ENSP00000344424:P57L ENSP00000344424:P57L P + 2 0 KIAA0247 69239913 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.487000 0.81328 2.788000 0.95919 0.655000 0.94253 CCC KIAA0247-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000412453.1 + ENST00000342745.4 Missense_Mutation SNP PCPG-TCGA-QR-A70O-Normal-SM-5EQFT CEACAM5 1048 broad.mit.edu 37 19 42213811 42213811 + Missense_Mutation SNP C C T TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr19:42213811C>T ENST00000398599.4 + 2.0 424 c.277C>T c.(277-279)Ccc>Tcc p.P93S CEACAM5_ENST00000221992.6_Missense_Mutation_p.P93S|CEACAM5_ENST00000405816.1_Missense_Mutation_p.P93S|CEA_ENST00000598976.1_Missense_Mutation_p.P93S P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 93.0 Ig-like 1. homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832) anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887) GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803) breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34.0 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TACCCCAGGGCCCGCATACAG 0.458 0 196.0 201.0 199.0 19 42213811.0 2203.0 4300.0 6503.0 SO:0001583 missense M17303 CCDS12584.1 19q13.1-q13.2 2013-01-29 ENSG00000105388 ENSG00000105388 1048.0 1048.0 """CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 1817.0 protein-coding gene gene with protein product 114890.0 CEA Standard NM_004363 XM_005258413 Approved CD66e uc002orl.3 P06731 OTTHUMG00000151061 ENST00000398599.4:c.277C>T 19.__UNKNOWN__:g.42213811C>T ENSP00000381600:p.Pro93Ser H9KVA7 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. -|- 12.55|12.55 1.972683|1.972683 0.34848|0.34848 .|. .|. ENSG00000105388|ENSG00000105388 ENST00000398599|ENST00000221992;ENST00000405816;ENST00000378181 T|T;T 0.65732|0.01599 -0.17|4.74;4.74 2.56|2.56 -1.14|-1.14 0.09741|0.09741 .|Immunoglobulin V-set (1);Immunoglobulin-like fold (1); .|. .|. .|. .|. T|T 0.07503|0.07503 0.0189|0.0189 M|M 0.81497|0.81497 2.545|2.545 0.09310|0.09310 N|N 1|1 .|B;P;P .|0.41188 .|0.33;0.741;0.741 .|P;P;D .|0.63793 .|0.9;0.9;0.918 T|T 0.27020|0.27020 -1.0086|-1.0086 6|9 .|0.87932 .|D .|0 .|. 2.9661|2.9661 0.05908|0.05908 0.0:0.4593:0.2387:0.302|0.0:0.4593:0.2387:0.302 .|. .|93;93;93 .|Q8N4D0;P06731;Q53G30 .|.;CEAM5_HUMAN;. V|S 89|93 ENSP00000381600:A89V|ENSP00000221992:P93S;ENSP00000385072:P93S .|ENSP00000221992:P93S A|P +|+ 2|1 0|0 CEACAM5|CEACAM5 46905651|46905651 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.012000|0.012000 0.07955|0.07955 -0.360000|-0.360000 0.07622|0.07622 -0.136000|-0.136000 0.11475|0.11475 0.305000|0.305000 0.20034|0.20034 GCC|CCC CEACAM5-002 NOVEL basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000321133.2 + ENST00000398599.4 Missense_Mutation SNP PCPG-TCGA-QR-A70O-Normal-SM-5EQFT ZNF773 374928 broad.mit.edu 37 19 58018415 58018415 + Missense_Mutation SNP C C G TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr19:58018415C>G ENST00000282292.4 + 4.0 1092 c.952C>G c.(952-954)Ctc>Gtc p.L318V ZNF773_ENST00000598770.1_Missense_Mutation_p.L317V|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron NM_198542.1 NP_940944.1 Q6PK81 ZN773_HUMAN zinc finger protein 773 318.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22.0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) CAACTCCAGCCTCATGAAACA 0.423 0 125.0 127.0 126.0 19 58018415.0 2203.0 4300.0 6503.0 SO:0001583 missense BC005167 CCDS33134.1 19q13.43 2013-01-08 2006-12-15 2006-12-15 ENSG00000152439 374928.0 374928.0 """Zinc fingers, C2H2-type"", ""-""" 30487.0 protein-coding gene gene with protein product """zinc finger protein 419B""" ZNF419B 12477932 Standard NM_198542 NM_198542 Approved MGC4728 uc002qox.3 Q6PK81 ENST00000282292.4:c.952C>G 19.__UNKNOWN__:g.58018415C>G ENSP00000282292:p.Leu318Val Q96DL8 __UNKNOWN__ CCDS33134.1 . . . . . . . . . . C 10.84 1.464810 0.26335 . . ENSG00000152439 ENST00000282292 T 0.52983 0.64 1.17 1.17 0.20885 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.66992 0.2846 M 0.86953 2.85 0.09310 N 1 D;D 0.89917 1.0;0.998 D;D 0.87578 0.998;0.992 T 0.51764 -0.8664 9 0.72032 D 0.01 . 5.4629 0.16627 0.0:0.796:0.0:0.2039 . 317;318 Q6PK81-2;Q6PK81 .;ZN773_HUMAN V 318 ENSP00000282292:L318V ENSP00000282292:L318V L + 1 0 ZNF773 62710227 0.000000 0.05858 0.835000 0.33067 0.911000 0.54048 -0.142000 0.10311 0.945000 0.37605 0.305000 0.20034 CTC ZNF773-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000466475.1 + ENST00000282292.4 Missense_Mutation SNP PCPG-TCGA-QR-A70O-Normal-SM-5EQFT CMYA5 202333 broad.mit.edu 37 5 79031172 79031172 + Missense_Mutation SNP A A G TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr5:79031172A>G ENST00000446378.2 + 2.0 6615 c.6584A>G c.(6583-6585)aAa>aGa p.K2195R NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2195.0 negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733) costamere (GO:0043034) 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) 128.0 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) CCAGATAACAAAGTTGCTGAA 0.418 0 83.0 82.0 82.0 5 79031172.0 1874.0 4109.0 5983.0 SO:0001583 missense AW755254, AL831986 CCDS47238.1 5q14.1 2013-02-11 ENSG00000164309 ENSG00000164309 202333.0 202333.0 """Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing""" 14305.0 protein-coding gene gene with protein product """genethonin-3"", ""tripartite motif-containing 76""" 612193.0 """chromosome 5 open reading frame 10""" C5orf10 14688250 Standard NM_153610 NM_153610 Approved myospryn, SPRYD2, DKFZp451G223, TRIM76 uc003kgc.3 Q8N3K9 OTTHUMG00000162548 ENST00000446378.2:c.6584A>G 5.__UNKNOWN__:g.79031172A>G ENSP00000394770:p.Lys2195Arg A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88 __UNKNOWN__ CCDS47238.1 . . . . . . . . . . A 9.346 1.064169 0.20067 . . ENSG00000164309 ENST00000446378 T 0.20200 2.09 6.16 2.41 0.29592 . 0.576148 0.16882 N 0.195677 T 0.16599 0.0399 L 0.42245 1.32 0.09310 N 1 B 0.18461 0.028 B 0.15870 0.014 T 0.19516 -1.0303 10 0.49607 T 0.09 . 6.728 0.23367 0.6339:0.2912:0.0749:0.0 . 2195 Q8N3K9 CMYA5_HUMAN R 2195 ENSP00000394770:K2195R ENSP00000394770:K2195R K + 2 0 CMYA5 79066928 0.468000 0.25839 0.306000 0.25113 0.054000 0.15201 0.923000 0.28757 0.174000 0.19809 0.528000 0.53228 AAA CMYA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000369497.1 + ENST00000446378.2 Missense_Mutation SNP PCPG-TCGA-QR-A70O-Normal-SM-5EQFT FAM47C 442444 broad.mit.edu 37 X 37026997 37026997 + Missense_Mutation SNP A A C TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chrX:37026997A>C ENST00000358047.3 + 1.0 566 c.514A>C c.(514-516)Act>Cct p.T172P NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 172.0 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) 120.0 GGAGAAGACAACTGACGAACC 0.597 0 45.0 41.0 42.0 X 37026997.0 2202.0 4300.0 6502.0 SO:0001583 missense AK125992 CCDS35227.1 Xp21.1 2006-07-04 ENSG00000198173 ENSG00000198173 442444.0 442444.0 25301.0 protein-coding gene gene with protein product Standard NM_001013736 NM_001013736 Approved uc004ddl.2 Q5HY64 OTTHUMG00000024025 ENST00000358047.3:c.514A>C X.__UNKNOWN__:g.37026997A>C ENSP00000367913:p.Thr172Pro Q6ZU46 __UNKNOWN__ CCDS35227.1 . . . . . . . . . . A 9.626 1.135243 0.21123 . . ENSG00000198173 ENST00000358047 T 0.19394 2.15 0.502 -1.0 0.10196 . . . . . T 0.25269 0.0614 L 0.52266 1.64 0.09310 N 1 P 0.40180 0.705 P 0.51266 0.664 T 0.24835 -1.0149 8 0.32370 T 0.25 . . . . . 172 Q5HY64 FA47C_HUMAN P 172 ENSP00000367913:T172P ENSP00000367913:T172P T + 1 0 FAM47C 36936918 0.023000 0.18921 0.000000 0.03702 0.003000 0.03518 2.260000 0.43267 -0.619000 0.05648 0.242000 0.17961 ACT FAM47C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060508.1 + ENST00000358047.3 Missense_Mutation SNP PCPG-TCGA-QR-A70O-Normal-SM-5EQFT PRR12 57479 broad.mit.edu 37 19 50102938 50102938 + Missense_Mutation SNP G G A TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr19:50102938G>A ENST00000418929.2 + 5.0 4100 c.4088G>A c.(4087-4089)tGc>tAc p.C1363Y NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 0.0 DNA binding (GO:0003677) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11.0 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCTTCACCCTGCAAGCGGCTT 0.642 0 31.0 38.0 36.0 19 50102938.0 2116.0 4235.0 6351.0 SO:0001583 missense AB033031 CCDS46143.1 19q13.33 2008-07-02 2006-02-06 2006-02-06 ENSG00000126464 57479.0 57479.0 29217.0 protein-coding gene gene with protein product """KIAA1205""" KIAA1205 10574462 Standard NM_020719 NM_020719 Approved uc002poo.4 Q9ULL5 ENST00000418929.2:c.4088G>A 19.__UNKNOWN__:g.50102938G>A ENSP00000394510:p.Cys1363Tyr E9PB06|Q8N4J6 __UNKNOWN__ CCDS46143.1 . . . . . . . . . . G 11.36 1.614359 0.28712 . . ENSG00000126464 ENST00000418929;ENST00000246798;ENST00000314734 . . . 4.56 3.49 0.39957 . 0.283923 0.25792 N 0.028276 T 0.59662 0.2210 L 0.40543 1.245 0.47862 D 0.999536 D 0.58268 0.982 P 0.53954 0.738 T 0.63404 -0.6645 9 0.62326 D 0.03 -25.6593 13.0768 0.59091 0.0:0.0:0.8377:0.1623 . 1363 Q9ULL5-3 . Y 1363;543;543 . ENSP00000246798:C543Y C + 2 0 PRR12 54794750 0.998000 0.40836 1.000000 0.80357 0.956000 0.61745 1.614000 0.36911 1.234000 0.43709 0.563000 0.77884 TGC PRR12-001 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465915.1 + ENST00000418929.2 Missense_Mutation SNP PCPG-TCGA-QR-A70O-Normal-SM-5EQFT PSG11 5680 broad.mit.edu 37 19 43528993 43528993 + Missense_Mutation SNP C C T TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr19:43528993C>T ENST00000401740.1 - 2.0 383 c.280G>A c.(280-282)Gca>Aca p.A94T PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T|PSG11_ENST00000306322.7_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 11 94.0 Ig-like V-type. female pregnancy (GO:0007565) extracellular region (GO:0005576) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26.0 Prostate(69;0.00682) CCACTGTATGCCGGTCCATAT 0.443 0 247.0 230.0 236.0 19 43528993.0 2199.0 4298.0 6497.0 SO:0001583 missense U25988 CCDS12614.2, CCDS12615.2 19q13.2 2013-01-29 ENSG00000243130 ENSG00000243130 5680.0 5680.0 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 9516.0 protein-coding gene gene with protein product """pregnancy specific beta-1-glycoprotein 13""" 176401.0 PSG13, PSG14 7794280 Standard NM_002785 NM_001113410 Approved MGC22484 uc002ovm.1 Q9UQ72 OTTHUMG00000151546 ENST00000401740.1:c.280G>A 19.__UNKNOWN__:g.43528993C>T ENSP00000384995:p.Ala94Thr B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73 __UNKNOWN__ CCDS12614.2 . . . . . . . . . . c 9.498 1.102465 0.20632 . . ENSG00000243130 ENST00000320078;ENST00000401740 T;T 0.66280 -0.2;-0.2 0.929 -1.86 0.07760 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1); . . . . T 0.64023 0.2561 M 0.80746 2.51 0.09310 N 1 B 0.25563 0.129 B 0.39904 0.313 T 0.63812 -0.6552 9 0.62326 D 0.03 . 2.5413 0.04726 0.0:0.4411:0.3119:0.247 . 94 Q9UQ72 PSG11_HUMAN T 94 ENSP00000319140:A94T;ENSP00000384995:A94T ENSP00000319140:A94T A - 1 0 PSG11 48220833 0.000000 0.05858 0.001000 0.08648 0.001000 0.01503 -0.352000 0.07701 -0.979000 0.03529 -1.140000 0.01884 GCA PSG11-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000323079.1 - ENST00000401740.1 Missense_Mutation SNP PCPG-TCGA-QR-A70O-Normal-SM-5EQFT PPP1R17 10842 broad.mit.edu 37 7 31736577 31736577 + Splice_Site SNP A A T TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr7:31736577A>T ENST00000409146.3 + 3.0 210 c.e3-1 PPP1R17_ENST00000498609.1_Splice_Site|PPP1R17_ENST00000342032.3_Splice_Site NM_001145123.2 NP_001138595.1 O96001 PPR17_HUMAN protein phosphatase 1, regulatory subunit 17 central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921) protein serine/threonine phosphatase inhibitor activity (GO:0004865) CTAACCATGCAGGTGTGTTTT 0.373 0 83.0 82.0 82.0 7 31736577.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AF071789 CCDS5436.1, CCDS47570.1 7p15 2012-04-17 2011-10-11 2011-10-11 ENSG00000106341 ENSG00000106341 10842.0 10842.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 16973.0 protein-coding gene gene with protein product """G-substrate""" 604088.0 """chromosome 7 open reading frame 16""" C7orf16 10051666, 9920894 Standard NM_006658 NM_006658 Approved GSBS uc003tcl.3 O96001 OTTHUMG00000128629 ENST00000409146.3:c.83-1A>T 7.__UNKNOWN__:g.31736577A>T B4DE58|Q9UDQ0 __UNKNOWN__ CCDS47570.1 . . . . . . . . . . A 17.12 3.308453 0.60305 . . ENSG00000106341 ENST00000342032;ENST00000409146 . . . 5.63 5.63 0.86233 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 15.7971 0.78420 1.0:0.0:0.0:0.0 . . . . . -1 . . . + . . C7orf16 31703102 1.000000 0.71417 0.991000 0.47740 0.766000 0.43426 6.036000 0.70948 2.261000 0.74972 0.460000 0.39030 . PPP1R17-002 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000328334.1 Intron + ENST00000409146.3 Splice_Site SNP PCPG-TCGA-QR-A70O-Normal-SM-5EQFT ZNF419 79744 broad.mit.edu 37 19 58004913 58004913 + Missense_Mutation SNP C C G TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr19:58004913C>G ENST00000424930.2 + 5.0 1220 c.991C>G c.(991-993)Ctc>Gtc p.L331V ZNF419_ENST00000426954.2_Missense_Mutation_p.L318V|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000347466.6_Missense_Mutation_p.L298V|ZNF419_ENST00000442920.2_Missense_Mutation_p.L317V|ZNF419_ENST00000221735.7_Missense_Mutation_p.L330V|ZNF419_ENST00000354197.4_Missense_Mutation_p.L318V|ZNF419_ENST00000415379.2_Missense_Mutation_p.L284V NM_001098491.1|NM_024691.3 NP_001091961.1|NP_078967.3 Q96HQ0 ZN419_HUMAN zinc finger protein 419 330.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26.0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) CAACTCCAGCCTCATGAAACA 0.408 0 71.0 68.0 69.0 19 58004913.0 2203.0 4299.0 6502.0 SO:0001583 missense AK026886 CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1 19q13.43 2013-01-08 2006-12-15 2006-12-15 ENSG00000105136 ENSG00000105136 79744.0 79744.0 """Zinc fingers, C2H2-type"", ""-""" 20648.0 protein-coding gene gene with protein product """zinc finger protein 419A""" ZNF419A Standard NM_024691 NM_001098492 Approved uc010ety.1 Q96HQ0 OTTHUMG00000037073 ENST00000424930.2:c.991C>G 19.__UNKNOWN__:g.58004913C>G ENSP00000388864:p.Leu331Val B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0 __UNKNOWN__ CCDS54325.1 . . . . . . . . . . C 10.85 1.465696 0.26335 . . ENSG00000105136 ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735 T;T;T;T;T;T;T 0.52983 0.64;0.64;0.64;0.64;0.64;0.64;0.64 2.36 0.0554 0.14315 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.64394 0.2594 M 0.85777 2.775 0.09310 N 1 D;D;D;D;D;D;D 0.71674 0.962;0.994;0.998;0.994;0.984;0.997;0.984 D;D;D;D;P;D;P 0.79108 0.963;0.989;0.992;0.989;0.722;0.987;0.722 T 0.51332 -0.8719 9 0.87932 D 0 . 3.3297 0.07080 0.2308:0.5384:0.0:0.2308 . 284;284;317;318;331;298;330 E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0 .;.;.;.;.;.;ZN419_HUMAN V 305;331;318;318;317;331;298;284;330 ENSP00000388864:L331V;ENSP00000390916:L318V;ENSP00000346136:L318V;ENSP00000414709:L317V;ENSP00000299860:L298V;ENSP00000392129:L284V;ENSP00000221735:L330V ENSP00000221735:L330V L + 1 0 ZNF419 62696725 0.000000 0.05858 0.033000 0.17914 0.719000 0.41307 0.057000 0.14279 0.289000 0.22422 0.205000 0.17691 CTC ZNF419-004 KNOWN NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000378502.2 + ENST00000424930.2 Missense_Mutation SNP PCPG-TCGA-QR-A70O-Normal-SM-5EQFT SULT6B1 391365 broad.mit.edu 37 2 37406671 37406671 + Missense_Mutation SNP G G T TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr2:37406671G>T ENST00000407963.1 - 5.0 448 c.345C>A c.(343-345)caC>caA p.H115Q SULT6B1_ENST00000535679.1_Missense_Mutation_p.H153Q|SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Missense_Mutation_p.H115Q Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member 1 153.0 cytoplasm (GO:0005737) sulfotransferase activity (GO:0008146) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1) 12.0 all_hematologic(82;0.248) GGACATCGTTGTGGAAATGCA 0.363 0 144.0 136.0 139.0 2 37406671.0 2203.0 4300.0 6503.0 SO:0001583 missense AY289770, AY289774 CCDS33182.1 2p22.2 2007-07-26 ENSG00000138068 ENSG00000138068 391365.0 391365.0 """Sulfotransferases, cytosolic""" 33433.0 protein-coding gene gene with protein product 14676822 Standard NM_001032377 XM_005264307 Approved uc002rpu.3 Q6IMI4 OTTHUMG00000152160 ENST00000407963.1:c.345C>A 2.__UNKNOWN__:g.37406671G>T ENSP00000384950:p.His115Gln B2RTS7 __UNKNOWN__ CCDS33182.1 . . . . . . . . . . G 8.898 0.955671 0.18507 . . ENSG00000138068 ENST00000535679;ENST00000260637;ENST00000407963 T;T;T 0.81330 -1.48;-1.48;-1.48 4.27 1.42 0.22433 Sulfotransferase domain (1); 0.568993 0.19848 N 0.104713 T 0.67988 0.2952 L 0.42529 1.33 0.33972 D 0.646977 B 0.26363 0.147 B 0.28465 0.09 T 0.60910 -0.7169 10 0.29301 T 0.29 . 3.5799 0.07949 0.3905:0.0:0.4399:0.1696 . 153 Q6IMI4 ST6B1_HUMAN Q 153;115;115 ENSP00000444081:H153Q;ENSP00000260637:H115Q;ENSP00000384950:H115Q ENSP00000260637:H115Q H - 3 2 SULT6B1 37260175 0.998000 0.40836 1.000000 0.80357 0.796000 0.44982 0.238000 0.18004 0.176000 0.19873 -0.254000 0.11334 CAC SULT6B1-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000325505.1 - ENST00000407963.1 Missense_Mutation SNP PCPG-TCGA-QR-A70O-Normal-SM-5EQFT CREB3 10488 broad.mit.edu 37 9 35736088 35736089 + Frame_Shift_Del DEL GA GA - TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr9:35736088_35736089delGA ENST00000353704.2 + 7.0 1093_1094 c.655_656delGA c.(655-657)gagfs p.E219fs CREB3_ENST00000486056.1_3'UTR NM_006368.4 NP_006359.3 O43889 CREB3_HUMAN cAMP responsive element binding protein 3 243.0 Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}. chemotaxis (GO:0006935)|cytoplasmic sequestering of transcription factor (GO:0042994)|establishment of viral latency (GO:0019043)|induction of positive chemotaxis (GO:0050930)|negative regulation of cell cycle (GO:0045786)|negative regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000326)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|release from viral latency (GO:0019046)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nuclear body (GO:0016604)|nucleus (GO:0005634) cAMP response element binding protein binding (GO:0008140)|CCR1 chemokine receptor binding (GO:0031726)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1) 9.0 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GBM - Glioblastoma multiforme(74;0.0285) CATGGTGATTGAGATATCAAAC 0.52 OREG0019176 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001589 frameshift_variant AF211848 CCDS6588.1 9p13.3 2013-01-10 2003-11-06 ENSG00000107175 ENSG00000107175 10488.0 10488.0 """basic leucine zipper proteins""" 2347.0 protein-coding gene gene with protein product 606443.0 """cAMP responsive element binding protein 3 (luman)""" 9271389 Standard NM_006368 NM_006368 Approved LZIP, Luman uc003zxv.3 O43889 OTTHUMG00000019872 ENST00000353704.2:c.655_656delGA 9.__UNKNOWN__:g.35736090_35736091delGA ENSP00000342136:p.Glu219fs 857.0 D0PTW6|O14671|O14919|Q5TCV1|Q96GK8|Q9H2W3|Q9UE77 __UNKNOWN__ CCDS6588.1 CREB3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052349.1 + ENST00000353704.2 Frame_Shift_Del DEL PCPG-TCGA-QR-A70O-Normal-SM-5EQFT PRKAA2 5563 broad.mit.edu 37 1 57111088 57111089 + Frame_Shift_Ins INS - - G TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr1:57111088_57111089insG ENST00000371244.4 + 1.0 94_95 c.28_29insG c.(28-30)cggfs p.R10fs NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 10.0 autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) cytosol (GO:0005829)|nucleoplasm (GO:0005654) [acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712) breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23.0 Acetylsalicylic acid(DB00945) GCACGACGGGCGGGTGAAGATC 0.703 0 SO:0001589 frameshift_variant BC069823 CCDS605.1 1p31 2011-08-25 ENSG00000162409 ENSG00000162409 5563.0 5563.0 9377.0 protein-coding gene gene with protein product 600497.0 PRKAA 7959015 Standard NM_006252 NM_006252 Approved AMPK, AMPKa2 uc001cyk.4 P54646 OTTHUMG00000008282 ENST00000371244.4:c.31dupG 1.__UNKNOWN__:g.57111091_57111091dupG ENSP00000360290:p.Arg10fs Q9H1E8|Q9UD43 __UNKNOWN__ CCDS605.1 PRKAA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000022753.2 + ENST00000371244.4 Frame_Shift_Ins INS PCPG-TCGA-QR-A70O-Normal-SM-5EQFT FBXL12 54850 ucsc.edu 37 19 9921879 9921879 + Missense_Mutation SNP C C T TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr19:9921879C>T ENST00000247977.4 - 3.0 915 c.674G>A c.(673-675)cGc>cAc p.R225H FBXL12_ENST00000591009.1_Missense_Mutation_p.R172H|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.R172H NM_017703.1 NP_060173.1 Q9NXK8 FXL12_HUMAN F-box and leucine-rich repeat protein 12 225.0 protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151) endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2) 10.0 TCGGAGGTGGCGGCTGATGGC 0.667 0 25.0 27.0 26.0 19 9921879.0 2203.0 4299.0 6502.0 SO:0001583 missense AK000195 CCDS12218.1 19p13.2 2011-06-09 ENSG00000127452 54850.0 54850.0 """F-boxes / Leucine-rich repeats""" 13611.0 protein-coding gene gene with protein product 609079 10531037 Standard NM_017703 XM_005259964 Approved FLJ20188, Fbl12 uc002mme.3 Q9NXK8 ENST00000247977.4:c.674G>A 19.__UNKNOWN__:g.9921879C>T ENSP00000247977:p.Arg225His B3KSJ8|Q9H5K4 __UNKNOWN__ CCDS12218.1 . . . . . . . . . . C 20.2 3.942769 0.73672 . . ENSG00000127452 ENST00000247977 T 0.26660 1.72 4.55 0.937 0.19494 . 0.534882 0.17704 N 0.164828 T 0.09379 0.0231 N 0.08118 0 0.80722 D 1 B 0.16166 0.016 B 0.04013 0.001 T 0.17837 -1.0356 9 . . . . 3.7852 0.08697 0.0:0.5619:0.2021:0.236 . 225 Q9NXK8 FXL12_HUMAN H 225 ENSP00000247977:R225H . R - 2 0 FBXL12 9782879 1.000000 0.71417 0.999000 0.59377 0.990000 0.78478 1.755000 0.38379 0.601000 0.29879 0.563000 0.77884 CGC FBXL12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000450265.1 - ENST00000247977.4 Missense_Mutation SNP PCPG-TCGA-QR-A70O-Normal-SM-5EQFT TMEM130 222865 ucsc.edu 37 7 98445683 98445683 + Missense_Mutation SNP A A G TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr7:98445683A>G ENST00000450876.1 - 8.0 2331 c.1016T>C c.(1015-1017)gTg>gCg p.V339A TMEM130_ENST00000546258.1_Missense_Mutation_p.V404A|TMEM130_ENST00000345589.4_Missense_Mutation_p.V321A|TMEM130_ENST00000416379.2_Missense_Mutation_p.V435A|TMEM130_ENST00000339375.4_Missense_Mutation_p.V423A Q8N3G9 TM130_HUMAN transmembrane protein 130 435.0 Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25.0 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) GAGTGCTCACACGGTGTAAGT 0.547 0 52.0 53.0 53.0 7 98445683.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS5658.1, CCDS47649.1, CCDS47650.1 7q22.1 2006-03-09 ENSG00000166448 ENSG00000166448 222865.0 222865.0 25429.0 protein-coding gene gene with protein product 12975309 Standard NM_152913 NM_152913 Approved DKFZp761L1417, FLJ42643 uc003upo.3 Q8N3G9 OTTHUMG00000154419 ENST00000450876.1:c.1016T>C 7.__UNKNOWN__:g.98445683A>G ENSP00000390200:p.Val339Ala A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2 __UNKNOWN__ . . . . . . . . . . A 19.01 3.744270 0.69418 . . ENSG00000166448 ENST00000416379;ENST00000339375;ENST00000450876;ENST00000345589;ENST00000546258 T;T;T;T;T 0.37235 1.24;1.21;1.31;1.37;1.23 5.31 5.31 0.75309 . 0.000000 0.49305 D 0.000150 T 0.44519 0.1297 N 0.24115 0.695 0.36405 D 0.863396 D;D;D;D 0.76494 0.999;0.996;0.996;0.996 D;D;D;D 0.80764 0.994;0.986;0.986;0.986 T 0.56408 -0.7984 10 0.72032 D 0.01 -11.0084 11.66 0.51341 1.0:0.0:0.0:0.0 . 423;404;435;321 Q8N3G9-2;B7Z2F1;Q8N3G9;Q8N3G9-3 .;.;TM130_HUMAN;. A 435;423;339;321;404 ENSP00000413163:V435A;ENSP00000341256:V423A;ENSP00000390200:V339A;ENSP00000330262:V321A;ENSP00000445869:V404A ENSP00000341256:V423A V - 2 0 TMEM130 98283619 1.000000 0.71417 1.000000 0.80357 0.713000 0.41058 5.061000 0.64319 2.016000 0.59253 0.459000 0.35465 GTG TMEM130-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000335128.1 - ENST00000450876.1 Missense_Mutation SNP PCPG-TCGA-QR-A70O-Normal-SM-5EQFT RNPEPL1 57140 broad.mit.edu 37 2 241513564 241513564 + Missense_Mutation SNP A A G TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr2:241513564A>G ENST00000270357.4 + 5.0 873 c.280A>G c.(280-282)Atc>Gtc p.I94V NM_018226.4 NP_060696.4 Q9HAU8 RNPL1_HUMAN arginyl aminopeptidase (aminopeptidase B)-like 1 94.0 leukotriene biosynthetic process (GO:0019370) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 13.0 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) CTCCTTCCCCATCGTGGCCAT 0.627 0 130.0 94.0 107.0 2 241513564.0 2203.0 4300.0 6503.0 SO:0001583 missense 2q37.3 2012-03-06 ENSG00000142327 ENSG00000142327 57140.0 57140.0 10079.0 protein-coding gene gene with protein product 605287.0 19508204 Standard NM_018226 NM_018226 Approved uc002vzi.4 Q9HAU8 OTTHUMG00000133357 ENST00000270357.4:c.280A>G 2.__UNKNOWN__:g.241513564A>G ENSP00000270357:p.Ile94Val Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0 __UNKNOWN__ . . . . . . . . . . a 16.56 3.158742 0.57368 . . ENSG00000142327 ENST00000270357 T 0.02498 4.27 5.08 3.88 0.44766 Peptidase M1, membrane alanine aminopeptidase, N-terminal (2); 0.054715 0.64402 D 0.000001 T 0.03608 0.0103 N 0.19112 0.55 0.43360 D 0.995439 B 0.26318 0.146 B 0.39935 0.314 T 0.51132 -0.8744 10 0.72032 D 0.01 -8.666 9.1551 0.36988 0.8364:0.0:0.0:0.1636 . 94 Q9HAU8 RNPL1_HUMAN V 94 ENSP00000270357:I94V ENSP00000270357:I94V I + 1 0 RNPEPL1 241162237 1.000000 0.71417 1.000000 0.80357 0.963000 0.63663 6.740000 0.74832 0.716000 0.32124 0.398000 0.26397 ATC RNPEPL1-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000257190.4 + ENST00000270357.4 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB TANC2 26115 broad.mit.edu 37 17 61499249 61499249 + Missense_Mutation SNP G G A rs143701650 by1000genomes TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr17:61499249G>A ENST00000424789.2 + 25.0 5910 c.5906G>A c.(5905-5907)cGa>cAa p.R1969Q RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1979Q NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1969.0 in utero embryonic development (GO:0001701) 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) 44.0 CAGCTGTCCCGAGACTCTCGG 0.532 G 1.0 0.0005 0.002 2184.0 0.9996 , , 0.0003 0.0006 0.7604 LOWCOV 0.0015 SNP 0 62.0 64.0 64.0 17 61499249.0 2029.0 4191.0 6220.0 SO:0001583 missense AB032974 CCDS45754.1 17q23.3 2013-01-11 ENSG00000170921 26115.0 26115.0 """Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing""" 30212.0 protein-coding gene gene with protein product """rolling pebbles homolog B (Drosophila)""" 615047.0 Standard NM_025185 Approved DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA uc002jal.4 Q9HCD6 ENST00000424789.2:c.5906G>A 17.__UNKNOWN__:g.61499249G>A ENSP00000387593:p.Arg1969Gln Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2 __UNKNOWN__ CCDS45754.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 G 21.0 4.086452 0.76642 . . ENSG00000170921 ENST00000389520;ENST00000424789 T;T 0.69040 -0.37;-0.37 5.75 5.75 0.90469 . 0.000000 0.85682 D 0.000000 T 0.62792 0.2457 N 0.24115 0.695 0.50813 D 0.999899 D 0.61697 0.99 P 0.47603 0.551 T 0.65059 -0.6260 10 0.51188 T 0.08 . 20.312 0.98644 0.0:0.0:1.0:0.0 . 1969 Q9HCD6 TANC2_HUMAN Q 1979;1969 ENSP00000374171:R1979Q;ENSP00000387593:R1969Q ENSP00000374171:R1979Q R + 2 0 TANC2 58852981 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 8.005000 0.88553 2.866000 0.98385 0.650000 0.86243 CGA TANC2-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000444765.1 + ENST00000424789.2 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB FAM71A 149647 broad.mit.edu 37 1 212798288 212798288 + Silent SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr1:212798288C>T ENST00000294829.3 + 1.0 500 c.69C>T c.(67-69)acC>acT p.T23T RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 23.0 nucleus (GO:0005634) 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) 36.0 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) TGTTCAACACCACCATGGGGA 0.488 0 109.0 98.0 101.0 1 212798288.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS1507.1 1q32.3 2008-02-05 ENSG00000162771 ENSG00000162771 149647.0 149647.0 26541.0 protein-coding gene gene with protein product 12477932 Standard NM_153606 NM_153606 Approved FLJ32796 uc010pth.1 Q8IYT1 OTTHUMG00000041084 ENST00000294829.3:c.69C>T 1.__UNKNOWN__:g.212798288C>T Q5VTZ1 __UNKNOWN__ CCDS1507.1 FAM71A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000098529.1 + ENST00000294829.3 Silent SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB CFDP1 10428 broad.mit.edu 37 16 75446587 75446587 + Missense_Mutation SNP T T C TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr16:75446587T>C ENST00000283882.3 - 3.0 380 c.248A>G c.(247-249)gAg>gGg p.E83G CFDP1_ENST00000564286.1_5'UTR|RP11-77K12.1_ENST00000567194.1_Missense_Mutation_p.E140G NM_006324.2 NP_006315.1 Q9UEE9 CFDP1_HUMAN craniofacial development protein 1 83.0 Glu-rich. cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360) endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5.0 ACTGCTTCCCTCAGATTCTGA 0.493 0 228.0 209.0 215.0 16 75446587.0 2198.0 4300.0 6498.0 SO:0001583 missense AB009285 CCDS10916.1 16q22.2-q22.3 2011-08-12 ENSG00000153774 ENSG00000153774 10428.0 10428.0 1873.0 protein-coding gene gene with protein product """Bucentaur"", ""centromere protein 29""" 608108.0 9602175, 9006920, 11992732 Standard NM_006324 NM_006324 Approved BCNT, p97, CP27, SWC5, Yeti, CENP-29 uc002fdy.3 Q9UEE9 OTTHUMG00000137615 ENST00000283882.3:c.248A>G 16.__UNKNOWN__:g.75446587T>C ENSP00000283882:p.Glu83Gly O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8 __UNKNOWN__ CCDS10916.1 . . . . . . . . . . T 8.604 0.887425 0.17540 . . ENSG00000153774 ENST00000283882 T 0.47177 0.85 5.98 0.953 0.19590 . 0.660478 0.15326 N 0.268307 T 0.21550 0.0519 N 0.05230 -0.09 0.25185 N 0.990172 B 0.02656 0.0 B 0.01281 0.0 T 0.18304 -1.0341 10 0.22109 T 0.4 -4.4653 6.7592 0.23530 0.0:0.3824:0.0:0.6176 . 83 Q9UEE9 CFDP1_HUMAN G 83 ENSP00000283882:E83G ENSP00000283882:E83G E - 2 0 CFDP1 74004088 0.048000 0.20356 0.880000 0.34516 0.353000 0.29299 0.475000 0.22164 0.295000 0.22570 0.482000 0.46254 GAG CFDP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269031.2 - ENST00000283882.3 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB VSIG4 11326 broad.mit.edu 37 X 65242294 65242294 + Silent SNP G G A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chrX:65242294G>A ENST00000374737.4 - 8.0 1119 c.1011C>T c.(1009-1011)gcC>gcT p.A337A VSIG4_ENST00000455586.2_3'UTR|VSIG4_ENST00000412866.2_Silent_p.A243A NM_001257403.1|NM_007268.2 NP_001244332.1|NP_009199.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 337.0 complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29.0 TTGCGAAGATGGCCACCCTCA 0.562 0 62.0 43.0 49.0 X 65242294.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AJ132502 CCDS14383.1, CCDS48132.1, CCDS55435.1 Xq12-q13.3 2013-01-29 ENSG00000155659 ENSG00000155659 11326.0 11326.0 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 17032.0 protein-coding gene gene with protein product 300353.0 10899594, 11004523, 17016555, 17016562 Standard NM_007268 NM_007268 Approved Z39IG uc004dwh.2 Q9Y279 OTTHUMG00000021727 ENST00000374737.4:c.1011C>T X.__UNKNOWN__:g.65242294G>A Q6UXI4 __UNKNOWN__ CCDS14383.1 VSIG4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000056986.1 - ENST00000374737.4 Silent SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB CXADRP3 0 broad.mit.edu 37 18 14479160 14479160 + RNA SNP G G C TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr18:14479160G>C ENST00000581457.1 - 0.0 748 NR_024076.1 coxsackie virus and adenovirus receptor pseudogene 3 CAGATAGGTAGTTTCCCCTTT 0.493 0 18p11.21 2013-09-19 ENSG00000265766 ENSG00000265766 440224.0 440224.0 33974.0 pseudogene pseudogene Standard NR_024076 NR_024076 Approved uc010xai.2 OTTHUMG00000178700 ENST00000581457.1: 18.__UNKNOWN__:g.14479160G>C __UNKNOWN__ CXADRP3-001 KNOWN basic lincRNA lincRNA OTTHUMT00000443008.1 - ENST00000581457.1 lincRNA SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB SIX4 51804 broad.mit.edu 37 14 61190752 61190753 + Missense_Mutation DNP GC GC TT TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr14:61190752_61190753GC>TT ENST00000216513.4 - 1.0 99_100 c.40_41GC>AA c.(40-42)GCg>AAg p.A14K NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 14.0 anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28.0 OV - Ovarian serous cystadenocarcinoma(108;0.0275) CTTGATGTCCGCCGCACTTGCG 0.604 0 SO:0001583 missense AB024687 CCDS9749.2 14q23.1 2012-10-02 2007-07-13 ENSG00000100625 ENSG00000100625 51804.0 51804.0 """Homeoboxes / SINE class""" 10890.0 protein-coding gene gene with protein product 606342.0 """sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)""" 10512683, 10640827 Standard NM_017420 Approved AREC3 uc001xfc.3 Q9UIU6 OTTHUMG00000028996 ENST00000216513.4:c.40_41delinsTT 14.__UNKNOWN__:g.61190752_61190753delinsTT ENSP00000216513:p.Ala14Lys Q4QQH5|Q4V764 __UNKNOWN__ CCDS9749.2 SIX4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000072397.2 - ENST00000216513.4 Missense_Mutation DNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB NDUFS8 4728 broad.mit.edu 37 11 67800684 67800684 + Silent SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr11:67800684C>T ENST00000313468.5 + 5.0 413 c.306C>T c.(304-306)cgC>cgT p.R102R NDUFS8_ENST00000528492.1_Intron NM_002496.3 NP_002487.1 O00217 NDUS8_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) 102.0 4Fe-4S ferredoxin-type 1. R -> H (in LS). {ECO:0000269|PubMed:9837812}. cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739) 4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137) endometrium(1)|kidney(1)|lung(5)|skin(1) 8.0 ATGCGCTGCGCCGGTACCCAT 0.687 Colon(116;1205 2770 20054) 0 33.0 33.0 33.0 11 67800684.0 2199.0 4294.0 6493.0 SO:0001819 synonymous_variant U65579 CCDS8176.1 11q13.2 2011-07-04 2002-08-29 ENSG00000110717 ENSG00000110717 4728.0 4728.0 1.6.5.3 """Mitochondrial respiratory chain complex / Complex I""" 7715.0 protein-coding gene gene with protein product """complex I 23kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial""" 602141.0 """NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)""" 9666055, 9116042 Standard NM_002496 NM_002496 Approved TYKY, CI-23k uc001onc.3 O00217 OTTHUMG00000167331 ENST00000313468.5:c.306C>T 11.__UNKNOWN__:g.67800684C>T B2RB86|Q0VDA8 __UNKNOWN__ CCDS8176.1 NDUFS8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394193.1 + ENST00000313468.5 Silent SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB STON2 85439 broad.mit.edu 37 14 81743629 81743629 + Missense_Mutation SNP G G A rs148063041 TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr14:81743629G>A ENST00000555447.1 - 6.0 2438 c.2026C>T c.(2026-2028)Cgg>Tgg p.R676W STON2_ENST00000267540.2_Missense_Mutation_p.R676W NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 676.0 MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}. hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488) cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34.0 BRCA - Breast invasive adenocarcinoma(234;0.0348) GTCCTGAACCGCATTAGCTCA 0.537 0 G TRP/ARG 0,4406 0,0,2203 115.0 105.0 108.0 2026 4.2 1.0 14 dbSNP_134 108.0 1,8599 1.2+/-3.3 0,1,4299 no missense STON2 NM_033104.2 101 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 probably-damaging 676/906 81743629.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AB208948 CCDS9875.1, CCDS58332.1 14q31.1 2007-08-01 ENSG00000140022 85439.0 85439.0 30652.0 protein-coding gene gene with protein product """stoned B homolog 2 (Drosophila)""" 608467.0 11381094, 11454741 Standard NM_033104 NM_033104 Approved STNB2, STN2 uc001xvk.2 Q8WXE9 ENST00000555447.1:c.2026C>T 14.__UNKNOWN__:g.81743629G>A ENSP00000450857:p.Arg676Trp G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6 __UNKNOWN__ CCDS58332.1 . . . . . . . . . . G 16.25 3.070494 0.55539 0.0 1.16E-4 ENSG00000140022 ENST00000555447;ENST00000546306;ENST00000267540 T;T 0.22336 1.96;1.96 6.06 4.19 0.49359 Clathrin adaptor, mu subunit, C-terminal (3); 0.070917 0.56097 D 0.000028 T 0.51991 0.1707 M 0.86805 2.84 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.87578 0.998;0.997 T 0.61372 -0.7076 10 0.87932 D 0 -23.5617 15.0097 0.71542 0.0:0.0:0.5028:0.4972 . 676;676 Q8WXE9;G3V2T7 STON2_HUMAN;. W 676;688;676 ENSP00000450857:R676W;ENSP00000267540:R676W ENSP00000267540:R676W R - 1 2 STON2 80813382 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 3.286000 0.51724 0.838000 0.34948 0.650000 0.86243 CGG STON2-002 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000413314.1 - ENST00000555447.1 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB LGALS9C 654346 broad.mit.edu 37 17 18396088 18396088 + Missense_Mutation SNP G G A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr17:18396088G>A ENST00000328114.6 + 10.0 920 c.839G>A c.(838-840)cGt>cAt p.R280H LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000412421.2_Missense_Mutation_p.R192H|LGALS9C_ENST00000583322.1_Missense_Mutation_p.R247H|LGALS9C_ENST00000584941.1_Intron NM_001040078.2 NP_001035167.2 Q6DKI2 LEG9C_HUMAN lectin, galactoside-binding, soluble, 9C 280.0 Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}. carbohydrate binding (GO:0030246) NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 7.0 GCTGTGGTCCGTAACACCCAG 0.587 0 58.0 35.0 43.0 17 18396088.0 2193.0 4194.0 6387.0 SO:0001583 missense CCDS32587.1 17p11.2 2011-08-04 ENSG00000171916 ENSG00000171916 654346.0 654346.0 """Lectins, galactoside-binding""" 33874.0 protein-coding gene gene with protein product Standard NM_001040078 NM_001040078 Approved uc002gtw.3 Q6DKI2 OTTHUMG00000059251 ENST00000328114.6:c.839G>A 17.__UNKNOWN__:g.18396088G>A ENSP00000329932:p.Arg280His B0AZM7 __UNKNOWN__ CCDS32587.1 . . . . . . . . . . g 15.86 2.957948 0.53400 . . ENSG00000171916 ENST00000412421;ENST00000328114 T;T 0.14144 2.53;2.53 2.26 2.26 0.28386 Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1); 0.000000 0.85682 D 0.000000 T 0.46151 0.1378 H 0.96691 3.865 0.45995 D 0.998808 D 0.89917 1.0 D 0.67725 0.953 T 0.62163 -0.6912 10 0.72032 D 0.01 . 10.6469 0.45626 0.0:0.0:1.0:0.0 . 280 Q6DKI2 LEG9C_HUMAN H 192;280 ENSP00000390286:R192H;ENSP00000329932:R280H ENSP00000329932:R280H R + 2 0 LGALS9C 18336813 0.987000 0.35691 0.991000 0.47740 0.372000 0.29890 6.994000 0.76251 1.578000 0.49821 0.184000 0.17185 CGT LGALS9C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000131456.2 + ENST00000328114.6 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB LGALS9B 284194 broad.mit.edu 37 17 20354879 20354879 + Missense_Mutation SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr17:20354879C>T ENST00000423676.3 - 10.0 902 c.839G>A c.(838-840)cGt>cAt p.R280H LGALS9B_ENST00000324290.5_Missense_Mutation_p.R279H Q3B8N2 LEG9B_HUMAN lectin, galactoside-binding, soluble, 9B 280.0 Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}. carbohydrate binding (GO:0030246) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 10.0 CTGGGTGTTACGGACCACAGC 0.587 0 SO:0001583 missense CCDS42283.1 17p11.2 2011-08-04 ENSG00000170298 ENSG00000170298 284194.0 284194.0 """Lectins, galactoside-binding""" 24842.0 protein-coding gene gene with protein product 11997339 Standard NM_001042685 NM_001042685 Approved uc002gwz.1 Q3B8N2 OTTHUMG00000130730 ENST00000423676.3:c.839G>A 17.__UNKNOWN__:g.20354879C>T ENSP00000388841:p.Arg280His A6NLF8|A8K2J8 __UNKNOWN__ . . . . . . . . . . C 14.72 2.620517 0.46736 . . ENSG00000170298 ENST00000423676;ENST00000324290 . . . 1.97 1.97 0.26223 Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1); 0.000000 0.85682 D 0.000000 D 0.85102 0.5620 H 0.96691 3.865 0.44523 D 0.997471 D;D 0.89917 0.998;1.0 D;D 0.74348 0.927;0.983 D 0.87431 0.2388 9 0.66056 D 0.02 . 10.0176 0.42024 0.0:1.0:0.0:0.0 . 280;279 Q3B8N2;Q3B8N2-2 LEG9B_HUMAN;. H 279;280 . ENSP00000315564:R280H R - 2 0 LGALS9B 20295471 1.000000 0.71417 0.998000 0.56505 0.415000 0.31203 5.479000 0.66813 1.434000 0.47414 0.194000 0.17425 CGT LGALS9B-001 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000253230.2 - ENST00000423676.3 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB HOXA1 3198 broad.mit.edu 37 7 27135188 27135188 + Missense_Mutation SNP T T A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr7:27135188T>A ENST00000343060.4 - 1.0 405 c.344A>T c.(343-345)cAg>cTg p.Q115L HOXA1_ENST00000355633.5_Missense_Mutation_p.Q115L NM_005522.4 NP_005513 P49639 HXA1_HUMAN homeobox A1 115.0 abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565) endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31.0 GTCTGCTTCCTGATTTAACGC 0.562 0 80.0 84.0 82.0 7 27135188.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS5401.1, CCDS5402.2 7p15.2 2011-06-20 2005-12-22 ENSG00000105991 ENSG00000105991 3198.0 3198.0 """Homeoboxes / ANTP class : HOXL subclass""" 5099.0 protein-coding gene gene with protein product 142955.0 """homeo box A1""" HOX1F, HOX1 1973146 Standard NM_153620 Approved uc003sye.3 P49639 OTTHUMG00000023207 ENST00000343060.4:c.344A>T 7.__UNKNOWN__:g.27135188T>A ENSP00000343246:p.Gln115Leu A4D184|B2R8U7|O43363 __UNKNOWN__ CCDS5401.1 . . . . . . . . . . T 15.73 2.921068 0.52653 . . ENSG00000105991 ENST00000343060;ENST00000355633 T;T 0.33865 1.39;1.39 5.28 5.28 0.74379 . 0.325797 0.33753 N 0.004593 T 0.44030 0.1274 L 0.60455 1.87 0.54753 D 0.999982 P;D 0.56035 0.608;0.974 B;P 0.51415 0.08;0.669 T 0.37865 -0.9687 10 0.46703 T 0.11 . 10.7917 0.46436 0.0:0.0:0.1588:0.8412 . 115;115 P49639;E7ERT8 HXA1_HUMAN;. L 115 ENSP00000343246:Q115L;ENSP00000347851:Q115L ENSP00000343246:Q115L Q - 2 0 HOXA1 27101713 1.000000 0.71417 1.000000 0.80357 0.960000 0.62799 5.666000 0.68059 2.005000 0.58758 0.260000 0.18958 CAG HOXA1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000358454.1 - ENST00000343060.4 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB PAX1 5075 broad.mit.edu 37 20 21687217 21687217 + Missense_Mutation SNP C C A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr20:21687217C>A ENST00000398485.2 + 2.0 482 c.428C>A c.(427-429)tCc>tAc p.S143Y PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.S119Y NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 143.0 Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}. bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38.0 CTCCGCGTATCCCACGGCTGC 0.682 0 48.0 49.0 49.0 20 21687217.0 2203.0 4299.0 6502.0 SO:0001583 missense CCDS13146.2, CCDS74709.1 20p11.22 2007-07-12 2007-07-12 ENSG00000125813 ENSG00000125813 5075.0 5075.0 """Paired boxes""" 8615.0 protein-coding gene gene with protein product 167411.0 """paired box gene 1""" 1358810 Standard NM_006192 Approved uc002wsj.3 P15863 OTTHUMG00000032034 ENST00000398485.2:c.428C>A 20.__UNKNOWN__:g.21687217C>A ENSP00000381499:p.Ser143Tyr B4E0D6|Q642X9|Q6NTC0|Q9Y558 __UNKNOWN__ CCDS13146.2 . . . . . . . . . . C 15.80 2.941119 0.53079 . . ENSG00000125813 ENST00000398485;ENST00000444366 D;D 0.99701 -6.45;-6.45 5.14 4.18 0.49190 Paired box protein, N-terminal (5);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1); 0.000000 0.85682 D 0.000000 D 0.99785 0.9910 H 0.94771 3.58 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;0.999 D 0.97042 0.9758 10 0.87932 D 0 . 15.2419 0.73476 0.0:0.8585:0.1415:0.0 . 119;49;143 P15863-2;C9J775;P15863 .;.;PAX1_HUMAN Y 143;119 ENSP00000381499:S143Y;ENSP00000410355:S119Y ENSP00000381499:S143Y S + 2 0 PAX1 21635217 1.000000 0.71417 0.988000 0.46212 0.144000 0.21451 7.653000 0.83643 1.136000 0.42199 -0.175000 0.13238 TCC PAX1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078282.3 + ENST00000398485.2 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB MUC16 94025 broad.mit.edu 37 19 9075100 9075100 + Missense_Mutation SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr19:9075100C>T ENST00000397910.4 - 3.0 12549 c.12346G>A c.(12346-12348)Gcc>Acc p.A4116T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4118.0 Ser-rich.|Thr-rich. cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982) 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) 590.0 GTCCAGGAGGCTGTGGCTGAT 0.493 0 110.0 107.0 108.0 19 9075100.0 2105.0 4220.0 6325.0 SO:0001583 missense AF414442 CCDS54212.1 19p13.2 2008-02-05 2006-03-14 ENSG00000181143 94025.0 94025.0 """Mucins""" 15582.0 protein-coding gene gene with protein product 606154.0 11369781 Standard NM_024690 XM_006722941 Approved CA125, FLJ14303 uc002mkp.3 Q8WXI7 ENST00000397910.4:c.12346G>A 19.__UNKNOWN__:g.9075100C>T ENSP00000381008:p.Ala4116Thr Q6ZQW5|Q96RK2 __UNKNOWN__ CCDS54212.1 . . . . . . . . . . c 11.27 1.589977 0.28357 . . ENSG00000181143 ENST00000397910 T 0.23348 1.91 2.09 -1.9 0.07665 . . . . . T 0.26231 0.0640 L 0.50333 1.59 . . . D 0.54964 0.969 P 0.50192 0.634 T 0.31696 -0.9934 8 0.87932 D 0 . 4.4288 0.11517 0.4457:0.3348:0.2195:0.0 . 4116 B5ME49 . T 4116 ENSP00000381008:A4116T ENSP00000381008:A4116T A - 1 0 MUC16 8936100 0.000000 0.05858 0.000000 0.03702 0.738000 0.42128 -1.196000 0.03041 -0.342000 0.08363 0.313000 0.20887 GCC MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402806.1 - ENST00000397910.4 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB IGHV1OR21-1 0 broad.mit.edu 37 21 10862645 10862645 + RNA SNP G G C TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr21:10862645G>C ENST00000559480.1 + 0.0 24 A6NJS3 IV1U1_HUMAN immunoglobulin heavy variable 1/OR21-1 (non-functional) extracellular region (GO:0005576) breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26.0 GGAGGATCCTGTTTTTGGTGG 0.507 0 352.0 330.0 337.0 21 10862645.0 1950.0 4148.0 6098.0 21p11.2 2014-05-06 2010-11-09 ENSG00000169861 ENSG00000277282 390530.0 390530.0 """Immunoglobulins / IGH orphons""" 38040.0 other immunoglobulin gene """immunoglobulin heavy variable 1/OR21-1 pseudogene""" Standard NG_011680 NG_011680 Approved IGHV1/OR21-1 A6NJS3 OTTHUMG00000188295 ENST00000559480.1: 21.__UNKNOWN__:g.10862645G>C __UNKNOWN__ IGHV1OR21-1-201 KNOWN basic|appris_principal IG_V_gene IG_V_gene + ENST00000559480.1 RNA SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB RNF10 9921 broad.mit.edu 37 12 121002881 121002881 + Nonsense_Mutation SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr12:121002881C>T ENST00000325954.4 + 11.0 2133 c.1672C>T c.(1672-1674)Cga>Tga p.R558* RNF10_ENST00000413266.2_Nonsense_Mutation_p.R563* NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 558.0 negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27.0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTAGGATGTTCGACAGCGTCA 0.453 0 209.0 195.0 200.0 12 121002881.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AB027196 CCDS9201.1 12q23-q24 2013-01-09 ENSG00000022840 ENSG00000022840 9921.0 9921.0 """RING-type (C3HC4) zinc fingers""" 10055.0 protein-coding gene gene with protein product Standard NM_014868 Approved KIAA0262, RIE2 uc001typ.4 Q8N5U6 OTTHUMG00000168999 ENST00000325954.4:c.1672C>T 12.__UNKNOWN__:g.121002881C>T ENSP00000322242:p.Arg558* Q92550|Q9NPP8|Q9ULW4 __UNKNOWN__ CCDS9201.1 . . . . . . . . . . C 37 6.487559 0.97607 . . ENSG00000022840 ENST00000325954;ENST00000458409;ENST00000413266;ENST00000546262;ENST00000540046 . . . 5.71 4.82 0.62117 . 0.197037 0.44688 D 0.000425 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 12.328 0.55022 0.1408:0.7381:0.1211:0.0 . . . . X 558;558;563;6;102 . ENSP00000322242:R558X R + 1 2 RNF10 119487264 1.000000 0.71417 1.000000 0.80357 0.064000 0.16182 6.003000 0.70701 1.410000 0.46936 -0.176000 0.13171 CGA RNF10-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000401898.4 + ENST00000325954.4 Nonsense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB ZNF780A 284323 broad.mit.edu 37 19 40580901 40580901 + Missense_Mutation SNP T T C TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr19:40580901T>C ENST00000594395.1 - 5.0 1565 c.1451A>G c.(1450-1452)aAt>aGt p.N484S ZNF780A_ENST00000455521.1_Missense_Mutation_p.N484S|ZNF780A_ENST00000340963.5_Missense_Mutation_p.N483S|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.N483S|ZNF780A_ENST00000450241.2_Missense_Mutation_p.N449S|ZNF780A_ENST00000414720.2_Intron O75290 Z780A_HUMAN zinc finger protein 780A 483.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31.0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TGAGCCACGATTGAAGGCCTT 0.423 0 115.0 112.0 113.0 19 40580901.0 2203.0 4300.0 6503.0 SO:0001583 missense AK091274 CCDS33026.2, CCDS46078.1, CCDS46079.1 19q13.2 2014-02-12 2006-08-15 ENSG00000197782 ENSG00000197782 284323.0 284323.0 """Zinc fingers, C2H2-type"", ""-""" 27603.0 protein-coding gene gene with protein product Standard NM_001010880 NM_001142577 Approved ZNF780 uc010xvh.2 O75290 OTTHUMG00000155119 ENST00000594395.1:c.1451A>G 19.__UNKNOWN__:g.40580901T>C ENSP00000469786:p.Asn484Ser E9PB48|Q6ZN87 __UNKNOWN__ CCDS46079.1 . . . . . . . . . . t 0.066 -1.212240 0.01555 . . ENSG00000197782 ENST00000450241;ENST00000455521;ENST00000340963 T;T 0.07216 3.21;3.21 1.93 0.815 0.18763 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.01940 0.0061 N 0.00859 -1.14 0.09310 N 1 B;B 0.28933 0.228;0.013 B;B 0.33454 0.164;0.027 T 0.42849 -0.9427 9 0.02654 T 1 . 2.9832 0.05960 0.0:0.5077:0.2858:0.2065 . 484;483 E9PB48;O75290 .;Z780A_HUMAN S 483;484;483 ENSP00000400997:N484S;ENSP00000341507:N483S ENSP00000341507:N483S N - 2 0 ZNF780A 45272741 0.000000 0.05858 0.003000 0.11579 0.654000 0.38779 -5.575000 0.00112 0.096000 0.17463 0.260000 0.18958 AAT ZNF780A-008 KNOWN NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000462498.2 - ENST00000594395.1 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB SPAG17 200162 broad.mit.edu 37 1 118548121 118548121 + Silent SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr1:118548121C>T ENST00000336338.5 - 32.0 4757 c.4692G>A c.(4690-4692)gaG>gaA p.E1564E NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1564.0 cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126) p.E1564D(1) 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) 123.0 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) CTCGCAGCTGCTCACGCTTTT 0.443 1 Substitution - Missense(1) lung(1) 130.0 126.0 128.0 1 118548121.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS899.1 1p12 2014-01-21 ENSG00000155761 ENSG00000155761 200162.0 200162.0 26620.0 protein-coding gene gene with protein product Standard NM_206996 NM_206996 Approved FLJ34497, PF6, RP4-776P7.2, CT143 uc001ehk.2 Q6Q759 OTTHUMG00000012198 ENST00000336338.5:c.4692G>A 1.__UNKNOWN__:g.118548121C>T Q8NAZ1|Q9NT21 __UNKNOWN__ CCDS899.1 SPAG17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033723.1 - ENST00000336338.5 Silent SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB SUPT7L 9913 broad.mit.edu 37 2 27876404 27876404 + Missense_Mutation SNP C C G TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr2:27876404C>G ENST00000337768.5 - 6.0 1762 c.1193G>C c.(1192-1194)gGg>gCg p.G398A SUPT7L_ENST00000464789.2_Missense_Mutation_p.G396A|SUPT7L_ENST00000405491.1_Missense_Mutation_p.G396A|SUPT7L_ENST00000404798.2_Missense_Mutation_p.G263A|SUPT7L_ENST00000406540.1_Missense_Mutation_p.G396A NM_001282729.1|NM_014860.1 NP_001269658.1|NP_055675.1 O94864 ST65G_HUMAN suppressor of Ty 7 (S. cerevisiae)-like 398.0 chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|STAGA complex (GO:0030914) transcription coactivator activity (GO:0003713) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 16.0 Acute lymphoblastic leukemia(172;0.155) AGGGGAGGACCCCATGAGGCT 0.498 0 103.0 106.0 105.0 2 27876404.0 1908.0 4137.0 6045.0 SO:0001583 missense AF197954 CCDS42667.1, CCDS62885.1, CCDS62886.1 2p23.3 2008-02-05 ENSG00000119760 ENSG00000119760 9913.0 9913.0 30632.0 protein-coding gene gene with protein product 612762.0 9872452, 11564863 Standard NM_014860 NM_001282732 Approved STAF65, gamma, KIAA0764, SPT7L uc002rli.1 O94864 OTTHUMG00000151947 ENST00000337768.5:c.1193G>C 2.__UNKNOWN__:g.27876404C>G ENSP00000336750:p.Gly398Ala B4E3W3|Q6IB21|Q9H2T6 __UNKNOWN__ CCDS42667.1 . . . . . . . . . . C 26.3 4.724138 0.89298 . . ENSG00000119760 ENST00000337768;ENST00000406540;ENST00000405491;ENST00000464789;ENST00000404798 . . . 6.17 6.17 0.99709 . 0.000000 0.85682 D 0.000000 T 0.55016 0.1894 L 0.29908 0.895 0.80722 D 1 P;P;P 0.41393 0.633;0.748;0.633 B;B;B 0.42555 0.219;0.391;0.219 T 0.57464 -0.7807 9 0.87932 D 0 -29.8978 20.8794 0.99867 0.0:1.0:0.0:0.0 . 263;396;398 B4E3W3;O94864-2;O94864 .;.;ST65G_HUMAN A 398;396;396;396;263 . ENSP00000336750:G398A G - 2 0 SUPT7L 27729908 1.000000 0.71417 1.000000 0.80357 0.979000 0.70002 5.644000 0.67902 2.941000 0.99782 0.655000 0.94253 GGG SUPT7L-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000324568.1 - ENST00000337768.5 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB MYO18B 84700 broad.mit.edu 37 22 26165009 26165009 + Missense_Mutation SNP G G A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr22:26165009G>A ENST00000407587.2 + 4.0 1295 c.1126G>A c.(1126-1128)Ggt>Agt p.G376S MYO18B_ENST00000536101.1_Missense_Mutation_p.G376S|MYO18B_ENST00000335473.7_Missense_Mutation_p.G376S Q8IUG5 MY18B_HUMAN myosin XVIIIB 376.0 cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461) ATP binding (GO:0005524)|motor activity (GO:0003774) 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) 146.0 GGAGAAAGCAGGTGAGCTTCG 0.572 0 38.0 42.0 41.0 22 26165009.0 2092.0 4209.0 6301.0 SO:0001583 missense AJ310931 CCDS54507.1 22q12.1 2011-09-27 ENSG00000133454 ENSG00000133454 84700.0 84700.0 """Myosins / Myosin superfamily : Class XVIII""" 18150.0 protein-coding gene gene with protein product 607295.0 12209013, 12547197 Standard NM_032608 NM_032608 Approved BK125H2.1 uc003abz.1 Q8IUG5 OTTHUMG00000151129 ENST00000407587.2:c.1126G>A 22.__UNKNOWN__:g.26165009G>A ENSP00000386096:p.Gly376Ser B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9 __UNKNOWN__ . . . . . . . . . . G 11.40 1.627690 0.28978 . . ENSG00000133454 ENST00000536101;ENST00000335473;ENST00000407587 D;D;D 0.86956 -2.14;-2.14;-2.19 3.15 -1.89 0.07689 . 1.041620 0.07694 N 0.939220 T 0.75302 0.3831 N 0.24115 0.695 0.09310 N 1 B;B;B 0.32829 0.267;0.386;0.386 B;B;B 0.30646 0.055;0.118;0.118 T 0.59215 -0.7496 10 0.19147 T 0.46 . 9.3198 0.37957 0.0:0.4501:0.4049:0.145 . 376;376;376 Q8IUG5;F5GXR6;F5GYU7 MY18B_HUMAN;.;. S 376 ENSP00000441229:G376S;ENSP00000334563:G376S;ENSP00000386096:G376S ENSP00000334563:G376S G + 1 0 MYO18B 24495009 0.027000 0.19231 0.007000 0.13788 0.149000 0.21700 2.366000 0.44204 -0.253000 0.09514 0.491000 0.48974 GGT MYO18B-006 NOVEL non_canonical_conserved|basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000400691.1 + ENST00000407587.2 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB COL6A3 1293 broad.mit.edu 37 2 238283663 238283663 + Splice_Site SNP A A T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr2:238283663A>T ENST00000295550.4 - 8.0 3523 c.3071T>A c.(3070-3072)gTt>gAt p.V1024D COL6A3_ENST00000392003.2_Splice_Site_p.V617D|COL6A3_ENST00000353578.4_Splice_Site_p.V818D|COL6A3_ENST00000392004.3_Splice_Site_p.V818D|COL6A3_ENST00000346358.4_Splice_Site_p.V824D|COL6A3_ENST00000472056.1_Splice_Site_p.V417D|COL6A3_ENST00000409809.1_Splice_Site_p.V818D|COL6A3_ENST00000347401.3_Splice_Site_p.V823D NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1024.0 Nonhelical region. axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749) collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982) serine-type endopeptidase inhibitor activity (GO:0004867) 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) 217.0 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) TTCACCTGAAACTGGGAGGAG 0.522 0 42.0 45.0 44.0 2 238283663.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant X52022 CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1 2q37 2014-09-17 ENSG00000163359 ENSG00000163359 1293.0 1293.0 """Collagens""" 2213.0 protein-coding gene gene with protein product 120250.0 1339440, 11992252 Standard NM_004369 NM_004369 Approved uc002vwl.2 P12111 OTTHUMG00000150020 ENST00000295550.4:c.3071-1T>A 2.__UNKNOWN__:g.238283663A>T A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6 __UNKNOWN__ CCDS33412.1 . . . . . . . . . . A 5.725 0.318153 0.10845 . . ENSG00000163359 ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003 D;D;D;D;D;D;T;T 0.89746 -2.56;-2.53;-2.52;-2.48;-2.52;-2.49;0.02;-0.09 5.33 2.81 0.32909 . 0.413650 0.20012 N 0.101082 T 0.69726 0.3143 N 0.04508 -0.205 0.58432 D 0.999999 B;B;B;B;B 0.16396 0.004;0.0;0.0;0.017;0.003 B;B;B;B;B 0.25614 0.008;0.001;0.003;0.062;0.004 T 0.56739 -0.7929 10 0.11794 T 0.64 . 1.9858 0.03436 0.5844:0.1665:0.0889:0.1602 . 417;617;818;818;1024 E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111 .;.;.;.;CO6A3_HUMAN D 1024;823;818;417;818;824;818;617 ENSP00000295550:V1024D;ENSP00000315609:V823D;ENSP00000315873:V818D;ENSP00000418285:V417D;ENSP00000386844:V818D;ENSP00000295546:V824D;ENSP00000375861:V818D;ENSP00000375860:V617D ENSP00000295550:V1024D V - 2 0 COL6A3 237948402 1.000000 0.71417 0.997000 0.53966 0.725000 0.41563 0.964000 0.29306 0.981000 0.38548 0.533000 0.62120 GTT COL6A3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000315790.2 Missense_Mutation - ENST00000295550.4 Splice_Site SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB KRTAP12-3 386683 broad.mit.edu 37 21 46077965 46077965 + Silent SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr21:46077965C>T ENST00000397907.1 + 1.0 117 c.69C>T c.(67-69)tcC>tcT p.S23S TSPEAR_ENST00000323084.4_Intron NM_198697.2 NP_941970.2 P60328 KR123_HUMAN keratin associated protein 12-3 23.0 14 X 5 AA approximate repeats. keratin filament (GO:0045095) central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 7.0 GCCAGGCATCCTGCTATGTGC 0.672 0 82.0 97.0 92.0 21 46077965.0 2188.0 4263.0 6451.0 SO:0001819 synonymous_variant AB076361 CCDS42964.1 21q22.3 2006-03-13 ENSG00000205439 ENSG00000205439 386683.0 386683.0 """Keratin associated proteins""" 20531.0 protein-coding gene gene with protein product Standard NM_198697 Approved KRTAP12.3 uc002zft.3 P60328 OTTHUMG00000057630 ENST00000397907.1:c.69C>T 21.__UNKNOWN__:g.46077965C>T __UNKNOWN__ CCDS42964.1 KRTAP12-3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000128033.1 + ENST00000397907.1 Silent SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB CDKL3 51265 broad.mit.edu 37 5 133648028 133648028 + Missense_Mutation SNP T T C TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr5:133648028T>C ENST00000265334.4 - 7.0 954 c.836A>G c.(835-837)gAt>gGt p.D279G CDKL3_ENST00000521118.1_Missense_Mutation_p.D279G|CDKL3_ENST00000523054.1_Missense_Mutation_p.D90G|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000609383.1_Intron|CDKL3_ENST00000523832.1_Missense_Mutation_p.D279G|CDKL3_ENST00000435211.1_Missense_Mutation_p.D279G|CDKL3_ENST00000609654.1_Missense_Mutation_p.D90G|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000536186.1_5'UTR NM_001113575.1 NP_001107047.1 Q8IVW4 CDKL3_HUMAN cyclin-dependent kinase-like 3 279.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. cellular protein modification process (GO:0006464) cytoplasm (GO:0005737) ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3) 11.0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATGCAAAAGATCACTAGATGA 0.328 0 52.0 48.0 49.0 5 133648028.0 1810.0 4072.0 5882.0 SO:0001583 missense AF130372 CCDS47264.1, CCDS47265.1, CCDS75303.1 5q31.1 2014-09-09 ENSG00000006837 ENSG00000006837 51265.0 51265.0 2.7.11.22 """Cyclin-dependent kinases""" 15483.0 protein-coding gene gene with protein product """serine-threonine protein kinase NKIAMRE""" 608459.0 10463609 Standard NM_001113575 NM_016508 Approved NKIAMRE uc003kzf.4 Q8IVW4 OTTHUMG00000186341 ENST00000265334.4:c.836A>G 5.__UNKNOWN__:g.133648028T>C ENSP00000265334:p.Asp279Gly D3DQA0|D3DQA1|Q9P114 __UNKNOWN__ CCDS47264.1 . . . . . . . . . . T 18.09 3.545375 0.65198 . . ENSG00000006837 ENST00000265334;ENST00000523054;ENST00000521118;ENST00000523832;ENST00000435211 T;T;T;T;T 0.47177 0.85;2.45;0.85;0.85;0.85 5.65 4.42 0.53409 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.308092 0.27996 N 0.017007 T 0.46112 0.1376 L 0.53780 1.695 0.37618 D 0.921199 P;B;P 0.47545 0.897;0.427;0.565 P;B;B 0.44946 0.465;0.142;0.393 T 0.56408 -0.7984 10 0.59425 D 0.04 -26.3078 10.2692 0.43473 0.0:0.0:0.1657:0.8343 . 90;90;279 B4DX41;B7Z2C5;Q8IVW4 .;.;CDKL3_HUMAN G 279;90;279;279;279 ENSP00000265334:D279G;ENSP00000428500:D90G;ENSP00000428689:D279G;ENSP00000430496:D279G;ENSP00000395559:D279G ENSP00000265334:D279G D - 2 0 CDKL3 133675927 1.000000 0.71417 1.000000 0.80357 0.962000 0.63368 3.227000 0.51262 2.149000 0.67028 0.482000 0.46254 GAT CDKL3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000377697.1 - ENST00000265334.4 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB TRHR 7201 broad.mit.edu 37 8 110100449 110100449 + Silent SNP T T C TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr8:110100449T>C ENST00000518632.1 + 2.0 1059 c.708T>C c.(706-708)aaT>aaC p.N236N TRHR_ENST00000311762.2_Silent_p.N236N P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 236.0 G-protein coupled receptor signaling pathway (GO:0007186) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) thyrotropin-releasing hormone receptor activity (GO:0004997) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37.0 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CATGGAAAAATGATTCAACCC 0.373 0 56.0 55.0 56.0 8 110100449.0 2201.0 4300.0 6501.0 SO:0001819 synonymous_variant CCDS6311.1 8q23.1 2013-09-20 ENSG00000174417 ENSG00000174417 7201.0 7201.0 12299.0 protein-coding gene gene with protein product 188545.0 8128317 Standard NM_003301 Approved uc003ymz.4 P34981 OTTHUMG00000164910 ENST00000518632.1:c.708T>C 8.__UNKNOWN__:g.110100449T>C Q2M339 __UNKNOWN__ CCDS6311.1 TRHR-002 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000380892.1 + ENST00000518632.1 Silent SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB FAM179A 165186 broad.mit.edu 37 2 29225514 29225514 + Silent SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr2:29225514C>T ENST00000379558.4 + 5.0 891 c.540C>T c.(538-540)agC>agT p.S180S FAM179A_ENST00000403861.2_Silent_p.S180S NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 180.0 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26.0 TCATCCAGAGCATCCCTACCA 0.662 0 30.0 37.0 35.0 2 29225514.0 1996.0 4164.0 6160.0 SO:0001819 synonymous_variant AK125239, AK125744 CCDS1769.2 2p23.2 2008-10-30 ENSG00000189350 ENSG00000189350 165186.0 165186.0 33715.0 protein-coding gene gene with protein product 16344560 Standard NM_199280 NM_199280 Approved FLJ43249, LOC165186 uc010ezl.3 Q6ZUX3 OTTHUMG00000128432 ENST00000379558.4:c.540C>T 2.__UNKNOWN__:g.29225514C>T Q6ZUF5 __UNKNOWN__ CCDS1769.2 FAM179A-003 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317848.4 + ENST00000379558.4 Silent SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB SLC44A1 23446 broad.mit.edu 37 9 108128699 108128699 + Missense_Mutation SNP T T A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr9:108128699T>A ENST00000374720.3 + 12.0 1730 c.1483T>A c.(1483-1485)Tat>Aat p.Y495N SLC44A1_ENST00000343170.7_Missense_Mutation_p.Y287N|SLC44A1_ENST00000374723.1_Missense_Mutation_p.Y495N|SLC44A1_ENST00000374724.1_Missense_Mutation_p.Y495N NM_080546.3 NP_536856.2 Q8WWI5 CTL1_HUMAN solute carrier family 44 (choline transporter), member 1 495.0 choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886) choline transmembrane transporter activity (GO:0015220) breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 38.0 Choline(DB00122) GTGCCTAAATTATTTAAATCA 0.299 0 46.0 46.0 46.0 9 108128699.0 2203.0 4298.0 6501.0 SO:0001583 missense AJ420812 CCDS6763.1, CCDS75868.1 9q31.2 2014-01-28 2013-07-17 2005-09-06 ENSG00000070214 ENSG00000070214 23446.0 23446.0 """CD molecules"", ""Solute carriers""" 18798.0 protein-coding gene gene with protein product 606105.0 """CDW92 antigen""" CDW92 11698453, 10677542 Standard NM_080546 NM_080546 Approved CDw92, CTL1, CHTL1, CD92 uc004bcn.3 Q8WWI5 OTTHUMG00000020421 ENST00000374720.3:c.1483T>A 9.__UNKNOWN__:g.108128699T>A ENSP00000363852:p.Tyr495Asn A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69 __UNKNOWN__ CCDS6763.1 . . . . . . . . . . T 25.3 4.621855 0.87460 . . ENSG00000070214 ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170 T;T;T;T 0.26518 1.73;1.73;1.73;1.73 5.56 5.56 0.83823 . 0.000000 0.85682 D 0.000000 T 0.56601 0.1996 M 0.85462 2.755 0.80722 D 1 D;D;D 0.89917 0.992;0.992;1.0 D;D;D 0.97110 0.948;0.948;1.0 T 0.63629 -0.6594 10 0.72032 D 0.01 -15.8992 16.0048 0.80354 0.0:0.0:0.0:1.0 . 495;495;495 Q8WWI5-3;Q8WWI5-2;Q8WWI5 .;.;CTL1_HUMAN N 495;495;495;287 ENSP00000363855:Y495N;ENSP00000363852:Y495N;ENSP00000363856:Y495N;ENSP00000341856:Y287N ENSP00000341856:Y287N Y + 1 0 SLC44A1 107168520 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.538000 0.82048 2.237000 0.73441 0.528000 0.53228 TAT SLC44A1-003 KNOWN alternative_3_UTR|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000053500.1 + ENST00000374720.3 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB CKAP5 9793 broad.mit.edu 37 11 46791574 46791574 + Silent SNP G G A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr11:46791574G>A ENST00000529230.1 - 26.0 3307 c.3261C>T c.(3259-3261)ccC>ccT p.P1087P CKAP5_ENST00000354558.3_Silent_p.P1087P|CKAP5_ENST00000415402.1_Silent_p.P1087P|CKAP5_ENST00000312055.5_Silent_p.P1087P Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1087.0 centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051) centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922) 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) 43.0 TTGCTTTAGTGGGTGGAGCAG 0.448 Ovarian(4;85 273 2202 4844 13323) 0 181.0 168.0 172.0 11 46791574.0 2201.0 4299.0 6500.0 SO:0001819 synonymous_variant CCDS7924.1, CCDS31477.1 11p11.2 2006-09-20 ENSG00000175216 ENSG00000175216 9793.0 9793.0 28959.0 protein-coding gene gene with protein product 611142.0 7788527, 8536682 Standard NM_014756 NM_014756 Approved ch-TOG, KIAA0097, TOG, TOGp uc001ndi.2 Q14008 OTTHUMG00000166599 ENST00000529230.1:c.3261C>T 11.__UNKNOWN__:g.46791574G>A Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4 __UNKNOWN__ CCDS31477.1 CKAP5-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390679.1 - ENST00000529230.1 Silent SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB DDAH1 23576 broad.mit.edu 37 1 85790441 85790441 + Missense_Mutation SNP C C A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr1:85790441C>A ENST00000284031.8 - 5.0 817 c.723G>T c.(721-723)gaG>gaT p.E241D DDAH1_ENST00000426972.3_Missense_Mutation_p.E148D|DDAH1_ENST00000542148.1_Missense_Mutation_p.E141D|DDAH1_ENST00000483110.1_5'UTR|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000535924.2_Missense_Mutation_p.E138D|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000539042.1_Missense_Mutation_p.E241D NM_012137.3 NP_036269.1 O94760 DDAH1_HUMAN dimethylarginine dimethylaminohydrolase 1 241.0 arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1) 5.0 all cancers(265;0.0318)|Epithelial(280;0.0657) L-Citrulline(DB00155) TTTCTGGATACTCTTCCGGGG 0.473 0 109.0 107.0 107.0 1 85790441.0 2203.0 4300.0 6503.0 SO:0001583 missense AB001915 CCDS705.1, CCDS44170.1 1p22 2008-02-05 ENSG00000153904 ENSG00000153904 23576.0 23576.0 3.5.3.18 2715.0 protein-coding gene gene with protein product 604743.0 9874257 Standard NM_012137 Approved DDAH uc001dlb.3 O94760 OTTHUMG00000010578 ENST00000284031.8:c.723G>T 1.__UNKNOWN__:g.85790441C>A ENSP00000284031:p.Glu241Asp Q5HYC8|Q86XK5 __UNKNOWN__ CCDS705.1 . . . . . . . . . . C 12.03 1.815862 0.32145 . . ENSG00000153904 ENST00000284031;ENST00000539042;ENST00000535924;ENST00000426972;ENST00000542148 . . . 5.77 1.87 0.25490 . 0.158919 0.56097 D 0.000035 T 0.19446 0.0467 L 0.31371 0.925 0.47949 D 0.999553 B;B 0.15141 0.012;0.002 B;B 0.17433 0.018;0.005 T 0.05649 -1.0872 9 0.21014 T 0.42 -28.2893 4.8905 0.13724 0.1346:0.5152:0.0:0.3502 . 141;241 B4DYP1;O94760 .;DDAH1_HUMAN D 241;241;138;148;141 . ENSP00000284031:E241D E - 3 2 DDAH1 85563029 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 1.000000 0.29770 0.377000 0.24735 0.655000 0.94253 GAG DDAH1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000029189.1 - ENST00000284031.8 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB PHRF1 57661 broad.mit.edu 37 11 605191 605191 + Missense_Mutation SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr11:605191C>T ENST00000416188.2 + 11.0 1318 c.1225C>T c.(1225-1227)Ccg>Tcg p.P409S PHRF1_ENST00000413872.2_Missense_Mutation_p.P408S|PHRF1_ENST00000264555.5_Missense_Mutation_p.P409S|PHRF1_ENST00000533464.1_Missense_Mutation_p.P405S Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 409.0 mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366) membrane (GO:0016020) RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270) breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28.0 CAGCTGCATCCCGTCAGTGTT 0.557 0 51.0 56.0 54.0 11 605191.0 2069.0 4209.0 6278.0 SO:0001583 missense BC004950 CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1 11p15.5 2014-06-13 ENSG00000070047 ENSG00000070047 57661.0 57661.0 """RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type""" 24351.0 protein-coding gene gene with protein product """CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125""" 611780.0 RNF221 Standard NM_020901 XM_005253027 Approved KIAA1542, PPP1R125 uc010qwc.2 Q9P1Y6 OTTHUMG00000165141 ENST00000416188.2:c.1225C>T 11.__UNKNOWN__:g.605191C>T ENSP00000410626:p.Pro409Ser A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2 __UNKNOWN__ CCDS44507.1 . . . . . . . . . . C 16.00 2.997192 0.54147 . . ENSG00000070047 ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464 D;D;D;D 0.83591 -1.72;-1.74;-1.71;-1.71 4.65 4.65 0.58169 . 0.000000 0.37955 N 0.001880 D 0.89591 0.6759 M 0.70275 2.135 0.47407 D 0.999413 D;D;D;D 0.89917 0.999;1.0;1.0;0.999 D;D;D;D 0.77557 0.978;0.99;0.99;0.978 D 0.90443 0.4433 10 0.72032 D 0.01 -15.3045 13.4536 0.61184 0.0:0.8428:0.1571:0.0 . 405;408;409;409 E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6 .;.;.;PHRF1_HUMAN S 409;408;409;405 ENSP00000264555:P409S;ENSP00000388589:P408S;ENSP00000410626:P409S;ENSP00000431870:P405S ENSP00000264555:P409S P + 1 0 PHRF1 595191 1.000000 0.71417 0.374000 0.26016 0.005000 0.04900 7.014000 0.76380 2.398000 0.81561 0.563000 0.77884 CCG PHRF1-008 KNOWN NAGNAG_splice_site|basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000398149.1 + ENST00000416188.2 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB NCKAP1L 3071 broad.mit.edu 37 12 54917726 54917726 + Missense_Mutation SNP G G C TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr12:54917726G>C ENST00000293373.6 + 20.0 2221 c.2142G>C c.(2140-2142)gaG>gaC p.E714D NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E664D NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 714.0 actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209) protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675) 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) 80.0 GCCACCTGGAGGCCAGACTCA 0.443 0 130.0 118.0 122.0 12 54917726.0 2203.0 4300.0 6503.0 SO:0001583 missense AI924363 CCDS31813.1, CCDS53799.1 12q13.1 2005-10-11 2005-10-11 2005-10-11 ENSG00000123338 3071.0 3071.0 4862.0 protein-coding gene gene with protein product 141180.0 """hematopoietic protein 1""" HEM1 1932118 Standard NM_005337 NM_005337 Approved uc001sgc.4 P55160 OTTHUMG00000169843 ENST00000293373.6:c.2142G>C 12.__UNKNOWN__:g.54917726G>C ENSP00000293373:p.Glu714Asp B4DUT5|Q52LW0 __UNKNOWN__ CCDS31813.1 . . . . . . . . . . G 18.94 3.730269 0.69074 . . ENSG00000123338 ENST00000293373;ENST00000545638 T;T 0.35048 1.33;1.33 5.16 -0.00244 0.14030 . 0.000000 0.85682 D 0.000000 T 0.54935 0.1889 M 0.81497 2.545 0.45995 D 0.998802 D 0.69078 0.997 D 0.79108 0.992 T 0.52668 -0.8545 10 0.41790 T 0.15 -19.6491 9.6496 0.39888 0.4141:0.0:0.5859:0.0 . 714 P55160 NCKPL_HUMAN D 714;664 ENSP00000293373:E714D;ENSP00000445596:E664D ENSP00000293373:E714D E + 3 2 NCKAP1L 53203993 0.999000 0.42202 0.995000 0.50966 0.950000 0.60333 1.197000 0.32211 0.019000 0.15079 -0.123000 0.14984 GAG NCKAP1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406195.1 + ENST00000293373.6 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB RSBN1 54665 broad.mit.edu 37 1 114354414 114354414 + Silent SNP G G A rs147797898 TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr1:114354414G>A ENST00000261441.5 - 1.0 684 c.621C>T c.(619-621)tgC>tgT p.C207C NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 207.0 nucleus (GO:0005634) breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29.0 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GATCGGTTCCGCAGGAGCTGG 0.632 0 G 0,4406 0,0,2203 97.0 84.0 88.0 621 3.3 1.0 1 dbSNP_134 88.0 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous RSBN1 NM_018364.3 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 207/803 114354414.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK002082 CCDS862.1 1p13.1 2008-02-05 ENSG00000081019 ENSG00000081019 54665.0 54665.0 25642.0 protein-coding gene gene with protein product 615858.0 12477932 Standard NM_018364 NM_018364 Approved FLJ11220, ROSBIN uc001edq.3 Q5VWQ0 OTTHUMG00000011938 ENST00000261441.5:c.621C>T 1.__UNKNOWN__:g.114354414G>A A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6 __UNKNOWN__ CCDS862.1 RSBN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033022.2 - ENST00000261441.5 Silent SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB MTR 4548 broad.mit.edu 37 1 237054510 237054510 + Missense_Mutation SNP C C T rs139771804 TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr1:237054510C>T ENST00000366577.5 + 29.0 3479 c.3085C>T c.(3085-3087)Cgg>Tgg p.R1029W MTR_ENST00000535889.1_Missense_Mutation_p.R978W NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 1029.0 AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}. cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270) 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) 67.0 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) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) ACTCCGGGCCCGGGGTGTGGT 0.522 0 C TRP/ARG 0,4406 0,0,2203 101.0 108.0 106.0 3085 -1.9 1.0 1 dbSNP_134 106.0 1,8599 1.2+/-3.3 0,1,4299 no missense MTR NM_000254.2 101 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 probably-damaging 1029/1266 237054510.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense U73338 CCDS1614.1, CCDS73054.1 1q43 2011-05-12 ENSG00000116984 ENSG00000116984 4548.0 4548.0 2.1.1.13 7468.0 protein-coding gene gene with protein product 156570.0 8968735 Standard NM_000254 NM_000254 Approved cblG uc001hyi.4 Q99707 OTTHUMG00000040060 ENST00000366577.5:c.3085C>T 1.__UNKNOWN__:g.237054510C>T ENSP00000355536:p.Arg1029Trp A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723 __UNKNOWN__ CCDS1614.1 . . . . . . . . . . C 19.60 3.858805 0.71834 0.0 1.16E-4 ENSG00000116984 ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576 T;T;T 0.79653 -1.29;-1.29;-1.29 5.48 -1.91 0.07641 Vitamin B12-dependent methionine synthase, activation domain (3); 0.165190 0.49916 D 0.000131 D 0.87830 0.6276 M 0.87758 2.905 0.37278 D 0.907722 D;D;D 0.71674 0.998;0.998;0.998 P;P;P 0.58577 0.841;0.841;0.841 D 0.89966 0.4090 10 0.87932 D 0 -10.6896 16.3981 0.83630 0.4283:0.5717:0.0:0.0 . 1029;978;1029 B7ZLW8;B7ZLW7;Q99707 .;.;METH_HUMAN W 883;1029;978;583 ENSP00000355536:R1029W;ENSP00000441845:R978W;ENSP00000355535:R583W ENSP00000355535:R583W R + 1 2 MTR 235121133 1.000000 0.71417 0.962000 0.40283 0.688000 0.40055 1.640000 0.37186 -0.604000 0.05760 -1.383000 0.01170 CGG MTR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000096632.2 + ENST00000366577.5 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB PSG8 0 broad.mit.edu 37 19 43262332 43262332 + Silent SNP G G A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr19:43262332G>A ENST00000306511.4 - 3.0 628 c.531C>T c.(529-531)agC>agT p.S177S PSG8_ENST00000401467.2_Intron|PSG8_ENST00000404209.4_Silent_p.S177S|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Silent_p.S55S NM_182707.2 NP_874366.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 177.0 Ig-like C2-type 1. extracellular region (GO:0005576) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40.0 Prostate(69;0.00899) ACCACAGGTAGCTTGCGTCCG 0.527 0 230.0 235.0 233.0 19 43262332.0 2203.0 4297.0 6500.0 SO:0001819 synonymous_variant M74106 CCDS33037.1, CCDS46090.1, CCDS46091.1 19q13.2 2013-01-29 ENSG00000124467 ENSG00000124467 440533.0 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 9525.0 protein-coding gene gene with protein product 176397.0 1672663, 1572651 Standard NM_182707 Approved uc002ouo.2 Q9UQ74 OTTHUMG00000151118 ENST00000306511.4:c.531C>T 19.__UNKNOWN__:g.43262332G>A A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6 __UNKNOWN__ CCDS33037.1 PSG8-008 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000464526.1 - ENST00000306511.4 Silent SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB VIT 5212 broad.mit.edu 37 2 36982171 36982171 + Translation_Start_Site SNP G G A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr2:36982171G>A ENST00000404084.1 + 4.0 483 c.317G>A c.(316-318)cGa>cAa p.R106Q VIT_ENST00000457137.2_Missense_Mutation_p.R128Q|VIT_ENST00000389975.3_Missense_Mutation_p.R128Q|VIT_ENST00000379241.3_Missense_Mutation_p.R128Q|VIT_ENST00000497382.1_De_novo_Start_OutOfFrame|VIT_ENST00000401530.1_Missense_Mutation_p.R128Q|VIT_ENST00000379242.3_Missense_Mutation_p.R128Q Q6UXI7 VITRN_HUMAN vitrin 128.0 LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}. extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811) interstitial matrix (GO:0005614) glycosaminoglycan binding (GO:0005539) autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57.0 all_hematologic(82;0.248) TCCCTACCACGATGGAGAGAA 0.443 0 141.0 121.0 128.0 2 36982171.0 2203.0 4300.0 6503.0 SO:0001583 missense AF063833 CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1 2p22.2 2008-05-15 ENSG00000205221 ENSG00000205221 5212.0 5212.0 12697.0 protein-coding gene gene with protein product Standard NM_001177969 Approved uc002rpl.3 Q6UXI7 OTTHUMG00000152149 ENST00000404084.1:c.317G>A 2.__UNKNOWN__:g.36982171G>A ENSP00000384154:p.Arg106Gln A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0 __UNKNOWN__ . . . . . . . . . . G 22.0 4.223858 0.79576 . . ENSG00000205221 ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530 D;D;D;D;D;D 0.89123 -2.47;-2.47;-2.47;-2.47;-2.47;-2.47 5.63 5.63 0.86233 LCCL (4); 0.205105 0.42548 D 0.000692 D 0.90700 0.7082 N 0.20881 0.62 0.40950 D 0.984533 D;D;D;D;D;D 0.89917 0.999;0.999;1.0;0.999;0.999;1.0 D;D;D;D;D;D 0.69142 0.939;0.962;0.937;0.932;0.937;0.953 D 0.91892 0.5524 10 0.59425 D 0.04 -11.4084 19.3046 0.94155 0.0:0.0:1.0:0.0 . 128;128;128;128;128;128 B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3 .;.;.;VITRN_HUMAN;.;. Q 128;128;128;128;106;128;128 ENSP00000368544:R128Q;ENSP00000374625:R128Q;ENSP00000393561:R128Q;ENSP00000384154:R106Q;ENSP00000368543:R128Q;ENSP00000385658:R128Q ENSP00000368543:R128Q R + 2 0 VIT 36835675 0.998000 0.40836 0.922000 0.36590 0.368000 0.29767 4.666000 0.61554 2.652000 0.90054 0.655000 0.94253 CGA VIT-003 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000325453.1 + ENST00000404084.1 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB SEMG2 6407 broad.mit.edu 37 20 43850691 43850691 + Missense_Mutation SNP C C A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr20:43850691C>A ENST00000372769.3 + 2.0 508 c.418C>A c.(418-420)Caa>Aaa p.Q140K NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 140.0 Repeat-rich region. sexual reproduction (GO:0019953) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141) structural molecule activity (GO:0005198) 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) 36.0 Myeloproliferative disorder(115;0.0122) TCATGGGACACAAAATCCTTC 0.388 0 104.0 93.0 96.0 20 43850691.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS13346.1 20q12-q13.1 2008-07-02 ENSG00000124157 ENSG00000124157 6407.0 6407.0 10743.0 protein-coding gene gene with protein product """Semenogelin 2""" 182141.0 1517240, 9523691 Standard NM_003008 NM_003008 Approved SGII uc002xnk.3 Q02383 OTTHUMG00000032566 ENST00000372769.3:c.418C>A 20.__UNKNOWN__:g.43850691C>A ENSP00000361855:p.Gln140Lys Q53ZU2|Q6X2M5|Q6X2M6 __UNKNOWN__ CCDS13346.1 . . . . . . . . . . C 11.73 1.725720 0.30593 . . ENSG00000124157 ENST00000372769 T 0.11063 2.81 1.2 1.2 0.21068 . . . . . T 0.26268 0.0641 M 0.73217 2.22 0.09310 N 1 P;D;D 0.59357 0.932;0.985;0.985 D;D;D 0.73708 0.949;0.981;0.981 T 0.04041 -1.0982 9 0.87932 D 0 . 5.7752 0.18275 0.0:1.0:0.0:0.0 . 140;140;140 A8K6Z6;Q6IRW3;Q02383 .;.;SEMG2_HUMAN K 140 ENSP00000361855:Q140K ENSP00000361855:Q140K Q + 1 0 SEMG2 43284105 0.003000 0.15002 0.028000 0.17463 0.004000 0.04260 -0.680000 0.05197 0.956000 0.37904 0.655000 0.94253 CAA SEMG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079417.1 + ENST00000372769.3 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB KIF15 56992 broad.mit.edu 37 3 44847335 44847335 + Splice_Site SNP A A G TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr3:44847335A>G ENST00000326047.4 + 16.0 1978 c.e16-1 KIF15_ENST00000425755.1_Splice_Site NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067) centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36.0 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) AATATCTATTAGGAAAAGGCA 0.343 0 103.0 122.0 116.0 3 44847335.0 2202.0 4300.0 6502.0 SO:0001630 splice_region_variant AB035898 CCDS33744.1 3p21.31 2008-03-03 2005-03-15 2005-03-17 ENSG00000163808 ENSG00000163808 56992.0 56992.0 """Kinesins""" 17273.0 protein-coding gene gene with protein product """kinesin-like 7""" KNSL7 10878014 Standard NM_020242 Approved HKLP2, NY-BR-62 uc003cnx.4 Q9NS87 OTTHUMG00000156307 ENST00000326047.4:c.1830-1A>G 3.__UNKNOWN__:g.44847335A>G Q17RV9|Q69YL6|Q96JX7|Q9H280 __UNKNOWN__ CCDS33744.1 . . . . . . . . . . A 19.69 3.875290 0.72180 . . ENSG00000163808 ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755 . . . 5.3 5.3 0.74995 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 15.5304 0.75956 1.0:0.0:0.0:0.0 . . . . . -1 . . . + . . KIF15 44822339 1.000000 0.71417 0.974000 0.42286 0.834000 0.47266 8.665000 0.91144 2.133000 0.65898 0.533000 0.62120 . KIF15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000343831.2 Intron + ENST00000326047.4 Splice_Site SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB ANKRD27 84079 broad.mit.edu 37 19 33113510 33113510 + Missense_Mutation SNP C C G TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr19:33113510C>G ENST00000306065.4 - 18.0 1803 c.1645G>C c.(1645-1647)Gtt>Ctt p.V549L NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 549.0 early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547) cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020) GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085) breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42.0 Esophageal squamous(110;0.137) TCGTAGTAAACCAGAGCCTTC 0.547 0 128.0 110.0 116.0 19 33113510.0 2203.0 4300.0 6503.0 SO:0001583 missense AK054561 CCDS32986.1 19q13.12 2013-01-10 ENSG00000105186 84079.0 84079.0 """Ankyrin repeat domain containing""" 25310.0 protein-coding gene gene with protein product """Vps9 domain and ankyrin-repeat-containing protein""" 11230166, 16525121 Standard NM_032139 NM_032139 Approved FLJ00040, DKFZp434L0718, VARP uc002ntn.1 Q96NW4 ENST00000306065.4:c.1645G>C 19.__UNKNOWN__:g.33113510C>G ENSP00000304292:p.Val549Leu Q71MF5|Q86UC3|Q8ND80|Q9H0I4 __UNKNOWN__ CCDS32986.1 . . . . . . . . . . C 15.80 2.939617 0.52972 . . ENSG00000105186 ENST00000306065 T 0.56776 0.44 5.31 5.31 0.75309 Ankyrin repeat-containing domain (3); 0.246207 0.28130 N 0.016485 T 0.26304 0.0642 N 0.00894 -1.105 0.80722 D 1 B 0.28713 0.22 B 0.30495 0.116 T 0.29640 -1.0005 10 0.10636 T 0.68 -15.6216 19.3213 0.94240 0.0:1.0:0.0:0.0 . 549 Q96NW4 ANR27_HUMAN L 549 ENSP00000304292:V549L ENSP00000304292:V549L V - 1 0 ANKRD27 37805350 1.000000 0.71417 1.000000 0.80357 0.902000 0.53008 7.307000 0.78920 2.645000 0.89757 0.655000 0.94253 GTT ANKRD27-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000450329.1 - ENST00000306065.4 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB RBPMS 11030 broad.mit.edu 37 8 30402178 30402180 + In_Frame_Del DEL CAC CAC - TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr8:30402178_30402180delCAC ENST00000339877.4 + 6.0 1110 RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000519647.1_Intron|RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000517860.1_In_Frame_Del_p.H190del|RBPMS_ENST00000287771.5_Intron|RBPMS_ENST00000520191.1_In_Frame_Del_p.H86del|RBPMS_ENST00000520161.1_Intron NM_001008712.1 NP_001008712.1 Q93062 RBPMS_HUMAN RNA binding protein with multiple splicing positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13.0 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) TCACTCACTTCACCACCAGTCCT 0.502 0 SO:0001627 intron_variant D84110 CCDS6077.1, CCDS34875.1, CCDS34876.1 8p12 2013-06-07 ENSG00000157110 ENSG00000157110 11030.0 11030.0 """RNA binding motif (RRM) containing""" 19097.0 protein-coding gene gene with protein product 601558.0 8855282 Standard NM_001008710 Approved HERMES uc003xib.3 Q93062 OTTHUMG00000163845 ENST00000339877.4:c.528+37CAC>- 8.__UNKNOWN__:g.30402181_30402183delCAC D3DSU9|Q92516|Q92517|Q92518|Q96J26 __UNKNOWN__ CCDS34876.1 RBPMS-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000376356.1 + ENST00000339877.4 Intron DEL PCPG-TCGA-QR-A70P-Normal-SM-5EQFB KIF1A 547 broad.mit.edu 37 2 241702149 241702151 + In_Frame_Del DEL CTC CTC - TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr2:241702149_241702151delCTC ENST00000320389.7 - 22.0 2232_2234 c.2074_2076delGAG c.(2074-2076)gagdel p.E692del KIF1A_ENST00000498729.2_In_Frame_Del_p.E701del NM_004321.6 NP_004312.2 Q12756 KIF1A_HUMAN kinesin family member 1A 692.0 anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574) 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) 66.0 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) CATCCTCGGGCTCCTCCTCCTCC 0.621 0 SO:0001651 inframe_deletion AF004425 CCDS46561.1, CCDS58757.1 2q37.2 2014-09-17 2004-01-09 2004-01-14 ENSG00000130294 ENSG00000130294 547.0 547.0 """Kinesins"", ""Pleckstrin homology (PH) domain containing""" 888.0 protein-coding gene gene with protein product 601255.0 """axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)""" ATSV, C2orf20, SPG30 7539720, 10323250, 22258533 Standard NM_138483 NM_001244008 Approved UNC104 uc010fzk.3 Q12756 OTTHUMG00000151940 ENST00000320389.7:c.2074_2076delGAG 2.__UNKNOWN__:g.241702158_241702160delCTC ENSP00000322791:p.Glu692del B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57 __UNKNOWN__ CCDS46561.1 KIF1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000324536.3 - ENST00000320389.7 In_Frame_Del DEL PCPG-TCGA-QR-A70P-Normal-SM-5EQFB MYH14 79784 broad.mit.edu 37 19 50771562 50771564 + In_Frame_Del DEL GAG GAG - TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr19:50771562_50771564delGAG ENST00000601313.1 + 24.0 3001_3003 c.2971_2973delGAG c.(2971-2973)gagdel p.E994del MYH14_ENST00000440075.2_In_Frame_Del_p.E994del|MYH14_ENST00000425460.1_In_Frame_Del_p.E961del|MYH14_ENST00000376970.2_In_Frame_Del_p.E986del|MYH14_ENST00000596571.1_In_Frame_Del_p.E953del|MYH14_ENST00000598205.1_In_Frame_Del_p.E961del|MYH14_ENST00000262269.8_In_Frame_Del_p.E994del NM_001145809.1 NP_001139281.1 Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 953.0 actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625) actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725) actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146) central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46.0 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) TCGCGTGGGCGAGGAGGAGGAGT 0.655 0 SO:0001651 inframe_deletion AY165122 CCDS46151.1, CCDS54295.1, CCDS59411.1 19q13.33 2011-09-27 2009-11-19 ENSG00000105357 79784.0 79784.0 """Myosins / Myosin superfamily : Class II""" 23212.0 protein-coding gene gene with protein product 608568.0 """myosin, heavy polypeptide 14"", ""myosin, heavy chain 14""" DFNA4 12909352, 15015131, 17940200 Standard NM_024729 NM_024729 Approved FLJ13881, KIAA2034, MHC16, MYH17 uc010enu.1 Q7Z406 ENST00000601313.1:c.2971_2973delGAG 19.__UNKNOWN__:g.50771571_50771573delGAG ENSP00000470298:p.Glu994del B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882 __UNKNOWN__ CCDS54295.1 MYH14-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000464709.2 + ENST00000601313.1 In_Frame_Del DEL PCPG-TCGA-QR-A70P-Normal-SM-5EQFB Unknown 389053 bcgsc.ca 37 2 136957337 136957337 + RNA SNP G G A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr2:136957337G>A CXCR4 (81602 upstream) : RN7SKP141 (190564 downstream) GGGCGTCCACGGTCGTCAGCA 0.473 0 SO:0001628 intergenic_variant 2.__UNKNOWN__:g.136957337G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB NME7 29922 bcgsc.ca 37 1 169336968 169336968 + Missense_Mutation SNP T T C TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr1:169336968T>C ENST00000367811.3 - 0.0 237 NME7_ENST00000472647.1_5'UTR NM_013330.3 NP_037462.1 Q9Y5B8 NDK7_HUMAN NME/NM23 family member 7 brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228) centrosome (GO:0005813)|ciliary basal body (GO:0036064) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550) central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1) 16.0 all_hematologic(923;0.208) ATCTCAGCACTAGAAAATAGG 0.552 0 132.0 118.0 122.0 1 169336968.0 2203.0 4300.0 6503.0 SO:0001623 5_prime_UTR_variant AF153191 CCDS1277.1, CCDS44274.1 1q24.2 2014-07-31 2012-05-18 ENSG00000143156 ENSG00000143156 29922.0 29922.0 20461.0 protein-coding gene gene with protein product """cilia and flagella associated protein 67""" 613465 """non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)""" 19852809 Standard NM_013330 NM_197972 Approved FLJ37194, NM23-H7, CFAP67 uc001gfu.3 Q9Y5B8 OTTHUMG00000034586 ENST00000367811.3:c.-20A>G 1.__UNKNOWN__:g.169336968T>C A8K3T6|A8MY09|B3KSW9|Q5TGZ4 __UNKNOWN__ CCDS1277.1 NME7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000083688.1 - ENST00000367811.3 5'UTR SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB SENP1 29843 bcgsc.ca 37 12 48477525 48477525 + Missense_Mutation SNP G G A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr12:48477525G>A ENST00000004980.5 - 6.0 879 c.401C>T c.(400-402)gCg>gTg p.A134V SENP1_ENST00000448372.1_Missense_Mutation_p.A134V|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000549518.1_Missense_Mutation_p.A134V|SENP1_ENST00000549595.1_Missense_Mutation_p.A134V|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000551330.1_Missense_Mutation_p.A134V Q9P0U3 SENP1_HUMAN SUMO1/sentrin specific peptidase 1 134.0 Ser-rich. activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929) large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7.0 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) TGACTTTCCCGCAAAACTGTT 0.333 0 93.0 90.0 91.0 12 48477525.0 1822.0 4083.0 5905.0 SO:0001583 missense AF149770 CCDS44868.1, CCDS44868.2 12q13.1 2008-02-05 2005-08-17 ENSG00000079387 29843.0 29843.0 17927.0 protein-coding gene gene with protein product 612157 """SUMO1/sentrin specific protease 1""" 10652325, 14563852 Standard NM_014554 NM_001267595 Approved uc009zkx.4 Q9P0U3 OTTHUMG00000169896 ENST00000004980.5:c.401C>T 12.__UNKNOWN__:g.48477525G>A ENSP00000004980:p.Ala134Val A8K7P5|Q86XC8 __UNKNOWN__ CCDS44868.2 . . . . . . . . . . G 6.595 0.478212 0.12521 . . ENSG00000079387 ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518;ENST00000551798 T;T;T;T;T 0.12672 2.66;2.66;2.66;2.66;2.66 4.67 -3.99 0.04069 . 1.576540 0.03148 N 0.167532 T 0.06462 0.0166 N 0.03608 -0.345 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.38779 -0.9645 10 0.10902 T 0.67 4.3555 13.6443 0.62272 0.6562:0.0:0.3438:0.0 . 134;134 Q9P0U3;Q9P0U3-2 SENP1_HUMAN;. V 134;134;134;134;134;127 ENSP00000004980:A134V;ENSP00000394791:A134V;ENSP00000446681:A134V;ENSP00000450076:A134V;ENSP00000447328:A134V ENSP00000004980:A134V A - 2 0 SENP1 46763792 0.000000 0.05858 0.006000 0.13384 0.670000 0.39368 -0.080000 0.11339 -0.887000 0.03961 0.655000 0.94253 GCG SENP1-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000406471.1 - ENST00000004980.5 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB ASL 435 ucsc.edu 37 7 65548107 65548107 + Missense_Mutation SNP C C T rs143793815 byFrequency TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr7:65548107C>T ENST00000304874.9 + 6.0 494 c.392C>T c.(391-393)aCg>aTg p.T131M ASL_ENST00000380839.4_Missense_Mutation_p.T131M|ASL_ENST00000395332.3_Missense_Mutation_p.T131M|ASL_ENST00000395331.3_Missense_Mutation_p.T131M NM_000048.3 NP_000039.2 P04424 ARLY_HUMAN argininosuccinate lyase 131.0 arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) argininosuccinate lyase activity (GO:0004056) breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18.0 L-Arginine(DB00125) ACCTGCTCCACGCTCTCGGGC 0.627 c 2.0 0.0009 0.0028 2184.0 1.0 , , 0.0003 0.0013 0.0009 0.9768 EXOME 0.0009 SNP 0 GRCh37 CM022315 ASL M rs143793815 C MET/THR,MET/THR,MET/THR,MET/THR 0,4406 0,0,2203 50.0 45.0 47.0 392,392,392,392 -9.3 0.0 7 dbSNP_134 47.0 7,8593 6.4+/-24.3 0,7,4293 yes missense,missense,missense,missense ASL NM_000048.3,NM_001024943.1,NM_001024944.1,NM_001024946.1 81,81,81,81 0,7,6496 TT,TC,CC 0.0814,0.0,0.0538 possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging 131/465,131/465,131/445,131/439 65548107.0 7,12999 2203.0 4300.0 6503.0 SO:0001583 missense CCDS5531.1, CCDS47597.1, CCDS47598.1 7q11.21 2012-10-02 ENSG00000126522 ENSG00000126522 435.0 435.0 4.3.2.1 746.0 protein-coding gene gene with protein product 608310 Standard NM_000048 NM_001024943 Approved uc003tuo.3 P04424 OTTHUMG00000022876 ENST00000304874.9:c.392C>T 7.__UNKNOWN__:g.65548107C>T ENSP00000307188:p.Thr131Met E7EMI0|E9PE48|Q6LDS5|Q96HS2 __UNKNOWN__ CCDS5531.1 2 9.157509157509158E-4 0 0.0 1 0.0027624309392265192 0 0.0 1 0.0013192612137203166 c 6.679 0.493829 0.12702 0.0 8.14E-4 ENSG00000126522 ENST00000304874;ENST00000380839;ENST00000395332;ENST00000362000;ENST00000395331 D;D;D;D;D 0.99388 -5.81;-5.81;-5.81;-5.81;-5.81 4.82 -9.32 0.00643 Lyase 1, N-terminal (1);L-Aspartase-like (1); 0.615885 0.17377 N 0.176431 D 0.95639 0.8582 L 0.53561 1.675 0.09310 N 1 B;B;B;B 0.30793 0.035;0.084;0.295;0.183 B;B;B;B 0.19391 0.023;0.025;0.021;0.021 D 0.86744 0.1956 10 0.52906 T 0.07 . 0.4831 0.00551 0.3037:0.2823:0.1527:0.2613 . 131;131;131;131 B4DU69;E9PE48;E7EMI0;P04424 .;.;.;ARLY_HUMAN M 131;131;131;66;131 ENSP00000307188:T131M;ENSP00000370219:T131M;ENSP00000378741:T131M;ENSP00000354710:T66M;ENSP00000378740:T131M ENSP00000307188:T131M T + 2 0 ASL 65185542 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.127000 0.10547 -2.506000 0.00507 -1.254000 0.01491 ACG ASL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251695.2 + ENST00000304874.9 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB PGM5 5239 ucsc.edu 37 9 71144559 71144559 + Missense_Mutation SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr9:71144559C>T ENST00000396396.1 + 11.0 1920 c.1691C>T c.(1690-1692)aCt>aTt p.T564I NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 564.0 carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155) cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018) intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198) endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34.0 AGGGGACCCACTGTCATCACC 0.517 0 52.0 45.0 48.0 9 71144559.0 2203.0 4299.0 6502.0 SO:0001583 missense L40933 CCDS6622.2 9q13 2008-02-05 ENSG00000154330 ENSG00000154330 5239.0 5239.0 8908.0 protein-coding gene gene with protein product """phosphoglucomutase-related protein""" 600981 8586438, 8631316 Standard NM_021965 NM_021965 Approved PGMRP uc004agr.3 Q15124 OTTHUMG00000019966 ENST00000396396.1:c.1691C>T 9.__UNKNOWN__:g.71144559C>T ENSP00000379678:p.Thr564Ile B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4 __UNKNOWN__ CCDS6622.2 . . . . . . . . . . C 20.7 4.027276 0.75390 . . ENSG00000154330 ENST00000396396 T 0.52295 0.67 5.53 5.53 0.82687 . 0.210907 0.48767 D 0.000179 T 0.59197 0.2176 M 0.88377 2.95 0.58432 D 0.999991 P 0.35872 0.525 B 0.35727 0.209 T 0.67975 -0.5531 10 0.87932 D 0 . 18.2252 0.89915 0.0:1.0:0.0:0.0 . 564 Q15124 PGM5_HUMAN I 564 ENSP00000379678:T564I ENSP00000379678:T564I T + 2 0 PGM5 70334379 0.998000 0.40836 0.942000 0.38095 0.959000 0.62525 3.830000 0.55768 2.606000 0.88127 0.563000 0.77884 ACT PGM5-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052548.2 + ENST00000396396.1 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB SMAD7 4092 ucsc.edu 37 18 46448019 46448019 + Missense_Mutation SNP C C A TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 857459e5-c09d-4ae3-b2e6-f7945e943573 b41e573f-9738-41d3-b8b4-94dc2b98514d g.chr18:46448019C>A ENST00000262158.2 - 4.0 1290 c.1004G>T c.(1003-1005)cGc>cTc p.R335L SMAD7_ENST00000589634.1_Missense_Mutation_p.R334L|SMAD7_ENST00000591805.1_Missense_Mutation_p.R120L|SMAD7_ENST00000585986.1_5'UTR NM_001190821.1|NM_005904.3 NP_001177750.1|NP_005895.1 O15105 SMAD7_HUMAN SMAD family member 7 335.0 MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}. adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667) activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625) p.R335H(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 10.0 Colorectal(1;0.0518) GTAACTGCTGCGGTTGTACAC 0.572 1 Substitution - Missense(1) breast(1) 145.0 95.0 112.0 18 46448019.0 2203.0 4300.0 6503.0 SO:0001583 missense AF010193 CCDS11936.1, CCDS54186.1, CCDS59317.1 18q21.1 2006-11-06 2006-11-06 2004-05-26 ENSG00000101665 ENSG00000101665 4092.0 4092.0 """SMADs""" 6773.0 protein-coding gene gene with protein product 602932 """MAD, mothers against decapentaplegic homolog 7 (Drosophila)"", ""SMAD, mothers against DPP homolog 7 (Drosophila)""" MADH8, MADH7 9256479, 9730599 Standard NM_005904 NM_005904 Approved uc002ldg.3 O15105 OTTHUMG00000132655 ENST00000262158.2:c.1004G>T 18.__UNKNOWN__:g.46448019C>A ENSP00000262158:p.Arg335Leu B7Z773|K7EQ10|O14740|Q6DK23 __UNKNOWN__ CCDS11936.1 . . . . . . . . . . C 25.6 4.658902 0.88154 . . ENSG00000101665 ENST00000545051;ENST00000262158 D 0.96685 -4.09 5.66 5.66 0.87406 SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3); 0.000000 0.85682 D 0.000000 D 0.95749 0.8617 N 0.12502 0.225 0.80722 D 1 D;D 0.89917 0.995;1.0 D;D 0.87578 0.982;0.998 D 0.94772 0.7946 10 0.24483 T 0.36 . 19.7417 0.96234 0.0:1.0:0.0:0.0 . 335;147 O15105;B3KYA8 SMAD7_HUMAN;. L 120;335 ENSP00000262158:R335L ENSP00000262158:R335L R - 2 0 SMAD7 44702017 1.000000 0.71417 1.000000 0.80357 0.975000 0.68041 7.818000 0.86416 2.658000 0.90341 0.591000 0.81541 CGC SMAD7-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000255906.1 - ENST00000262158.2 Missense_Mutation SNP PCPG-TCGA-QR-A70P-Normal-SM-5EQFB CCT4 10575 broad.mit.edu 37 2 62099293 62099293 + Missense_Mutation SNP T T C TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr2:62099293T>C ENST00000394440.3 - 12.0 1711 c.1415A>G c.(1414-1416)aAt>aGt p.N472S AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544185.1_Missense_Mutation_p.N322S|CCT4_ENST00000538252.1_Missense_Mutation_p.N416S|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544079.1_Missense_Mutation_p.N442S NM_006430.3 NP_006421.2 P50991 TCPD_HUMAN chaperonin containing TCP1, subunit 4 (delta) 472.0 'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457) cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199) ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082) breast(1)|large_intestine(2)|lung(6)|ovary(2) 11.0 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) AGAAATGGGATTCAGGCCGGC 0.433 0 102.0 101.0 101.0 2 62099293.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS33206.1, CCDS58711.1 2p15 2011-09-02 ENSG00000115484 ENSG00000115484 10575.0 10575.0 """Heat Shock Proteins / Chaperonins""" 1617.0 protein-coding gene gene with protein product 605142.0 9819444 Standard NM_001256721 Approved Cctd uc002sbo.4 P50991 OTTHUMG00000152166 ENST00000394440.3:c.1415A>G 2.__UNKNOWN__:g.62099293T>C ENSP00000377958:p.Asn472Ser B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51 __UNKNOWN__ CCDS33206.1 . . . . . . . . . . T 16.56 3.157601 0.57368 . . ENSG00000115484 ENST00000394440;ENST00000544079;ENST00000544185;ENST00000538252 T;T;T;T 0.79749 -1.3;-1.3;-1.3;-1.3 5.59 5.59 0.84812 . 0.000000 0.85682 D 0.000000 T 0.76169 0.3950 L 0.42632 1.34 0.80722 D 1 B;B 0.20459 0.045;0.016 B;B 0.23018 0.043;0.027 T 0.72394 -0.4307 10 0.48119 T 0.1 -25.4008 15.7401 0.77887 0.0:0.0:0.0:1.0 . 442;472 F5H5W3;P50991 .;TCPD_HUMAN S 472;442;322;416 ENSP00000377958:N472S;ENSP00000443061:N442S;ENSP00000443451:N322S;ENSP00000442174:N416S ENSP00000377958:N472S N - 2 0 CCT4 61952797 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 6.231000 0.72307 2.246000 0.74042 0.533000 0.62120 AAT CCT4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000325548.2 - ENST00000394440.3 Missense_Mutation SNP PCPG-TCGA-QR-A70Q-Normal-SM-5EQGL TADA3 10474 broad.mit.edu 37 3 9831245 9831245 + Missense_Mutation SNP C C T rs149462962 TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr3:9831245C>T ENST00000301964.2 - 4.0 1070 c.512G>A c.(511-513)cGc>cAc p.R171H TADA3_ENST00000343450.2_Missense_Mutation_p.R171H|TADA3_ENST00000440161.1_Missense_Mutation_p.R171H NM_006354.2 NP_006345.1 O75528 TADA3_HUMAN transcriptional adaptor 3 171.0 chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351) Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276) ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16.0 CTCAAGTGTGCGGACCTCCTC 0.562 0 C HIS/ARG,HIS/ARG 2,4404 4.2+/-10.8 0,2,2201 76.0 65.0 69.0 512,512 5.6 1.0 3 dbSNP_134 69.0 0,8600 0,0,4300 no missense,missense TADA3 NM_006354.2,NM_133480.1 29,29 0,2,6501 TT,TC,CC 0.0,0.0454,0.0154 possibly-damaging,possibly-damaging 171/433,171/370 9831245.0 2,13004 2203.0 4300.0 6503.0 SO:0001583 missense AF069733 CCDS2583.1, CCDS2584.1 3p25.3 2010-08-13 2009-10-02 2009-10-02 ENSG00000171148 ENSG00000171148 10474.0 10474.0 19422.0 protein-coding gene gene with protein product 602945.0 """transcriptional adaptor 3 (NGG1 homolog, yeast)-like""" TADA3L 9674425, 11707411 Standard NM_006354 Approved FLJ20221, FLJ21329, ADA3, hADA3, NGG1 uc010hcn.2 O75528 OTTHUMG00000128440 ENST00000301964.2:c.512G>A 3.__UNKNOWN__:g.9831245C>T ENSP00000307684:p.Arg171His Q6FI83|Q9UFS2 __UNKNOWN__ CCDS2583.1 . . . . . . . . . . C 19.16 3.774272 0.69992 4.54E-4 0.0 ENSG00000171148 ENST00000301964;ENST00000440161;ENST00000343450 . . . 5.56 5.56 0.83823 . 0.055093 0.64402 D 0.000001 T 0.47637 0.1456 L 0.57536 1.79 0.80722 D 1 P 0.48350 0.909 B 0.38327 0.271 T 0.55315 -0.8160 9 0.62326 D 0.03 -29.5567 12.8232 0.57704 0.0:0.9253:0.0:0.0747 . 171 O75528 TADA3_HUMAN H 171 . ENSP00000307684:R171H R - 2 0 TADA3 9806245 1.000000 0.71417 0.999000 0.59377 0.397000 0.30659 5.742000 0.68646 2.622000 0.88805 0.655000 0.94253 CGC TADA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250236.1 - ENST00000301964.2 Missense_Mutation SNP PCPG-TCGA-QR-A70Q-Normal-SM-5EQGL COG5 0 broad.mit.edu 37 7 107167714 107167714 + Missense_Mutation SNP A A G TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr7:107167714A>G ENST00000297135.3 - 6.0 1123 c.599T>C c.(598-600)aTa>aCa p.I200T COG5_ENST00000347053.3_Missense_Mutation_p.I200T|COG5_ENST00000393603.2_Missense_Mutation_p.I200T|COG5_ENST00000475638.2_5'UTR NM_006348.3 NP_006339.3 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 200.0 intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031) Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020) breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40.0 AGCTTTTGTTATCTCTCTACT 0.348 0 110.0 99.0 103.0 7 107167714.0 2203.0 4300.0 6503.0 SO:0001583 missense AF058718 CCDS5742.1, CCDS5743.1, CCDS55152.1 7q31 2010-06-24 2001-12-07 2002-05-10 ENSG00000164597 ENSG00000164597 10466.0 """Components of oligomeric golgi complex""" 14857.0 protein-coding gene gene with protein product 606821.0 """golgi transport complex 1 (90 kDa subunit)""" GOLTC1 9792665, 11980916 Standard NM_006348 Approved GTC90 uc003vec.2 Q9UP83 OTTHUMG00000023895 ENST00000297135.3:c.599T>C 7.__UNKNOWN__:g.107167714A>G ENSP00000297135:p.Ile200Thr A4D0R6|A4D0R7|O14555|O95008|Q6NUL5 __UNKNOWN__ CCDS5742.1 . . . . . . . . . . A 26.6 4.748835 0.89753 . . ENSG00000164597 ENST00000347053;ENST00000297135;ENST00000393603 T;T;T 0.20332 2.1;2.1;2.08 5.47 5.47 0.80525 . 0.000000 0.85682 D 0.000000 T 0.46464 0.1394 M 0.77616 2.38 0.80722 D 1 D;D 0.71674 0.979;0.998 P;D 0.66351 0.702;0.943 T 0.42749 -0.9433 10 0.42905 T 0.14 -17.4091 15.837 0.78805 1.0:0.0:0.0:0.0 . 200;200 Q9UP83;Q9UP83-2 COG5_HUMAN;. T 200 ENSP00000334703:I200T;ENSP00000297135:I200T;ENSP00000377228:I200T ENSP00000297135:I200T I - 2 0 COG5 106954950 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 8.910000 0.92685 2.199000 0.70637 0.528000 0.53228 ATA COG5-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000349394.1 - ENST00000297135.3 Missense_Mutation SNP PCPG-TCGA-QR-A70Q-Normal-SM-5EQGL DPPA4 55211 broad.mit.edu 37 3 109050579 109050579 + Splice_Site SNP A A G TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr3:109050579A>G ENST00000335658.6 - 4.0 445 c.e4+1 DPPA4_ENST00000478791.1_Splice_Site NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25.0 TTAAAAAGTTACCTTTTGATT 0.398 0 96.0 91.0 93.0 3 109050579.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AK001575 CCDS33814.1 3q13.13 2014-01-28 ENSG00000121570 ENSG00000121570 55211.0 55211.0 19200.0 protein-coding gene gene with protein product 614125.0 Standard NM_018189 NM_018189 Approved FLJ10713 uc003dxq.4 Q7L190 OTTHUMG00000159222 ENST00000335658.6:c.390+1T>C 3.__UNKNOWN__:g.109050579A>G A8K4M7|Q9H9N5|Q9NVI6 __UNKNOWN__ CCDS33814.1 . . . . . . . . . . A 12.89 2.072356 0.36566 . . ENSG00000121570 ENST00000335658 . . . 4.11 4.11 0.48088 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 9.8438 0.41015 1.0:0.0:0.0:0.0 . . . . . -1 . . . - . . DPPA4 110533269 0.997000 0.39634 0.718000 0.30602 0.208000 0.24298 3.282000 0.51693 2.104000 0.64026 0.529000 0.55759 . DPPA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353897.1 Intron - ENST00000335658.6 Splice_Site SNP PCPG-TCGA-QR-A70Q-Normal-SM-5EQGL WDR33 55339 broad.mit.edu 37 2 128522429 128522429 + Missense_Mutation SNP G G A TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr2:128522429G>A ENST00000322313.4 - 6.0 757 c.599C>T c.(598-600)gCa>gTa p.A200V WDR33_ENST00000393006.1_Missense_Mutation_p.A200V|WDR33_ENST00000409658.3_Missense_Mutation_p.A200V NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 200.0 mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283) collagen trimer (GO:0005581)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39.0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) CTCCTTATGTGCCTGGAACAT 0.413 0 190.0 152.0 165.0 2 128522429.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS2150.1, CCDS42746.1, CCDS46407.1 2q21.1 2013-01-09 ENSG00000136709 ENSG00000136709 55339.0 55339.0 """WD repeat domain containing""" 25651.0 protein-coding gene gene with protein product 11162572 Standard NM_018383 NM_001006622 Approved FLJ11294, WDC146, NET14 uc002tpg.2 Q9C0J8 OTTHUMG00000131534 ENST00000322313.4:c.599C>T 2.__UNKNOWN__:g.128522429G>A ENSP00000325377:p.Ala200Val Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1 __UNKNOWN__ CCDS2150.1 . . . . . . . . . . G 25.0 4.592900 0.86953 . . ENSG00000136709 ENST00000322313;ENST00000436787;ENST00000393006;ENST00000409658 T;T;T;T 0.62498 0.02;0.02;0.02;5.01 5.7 5.7 0.88788 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.000000 0.85682 D 0.000000 T 0.75722 0.3888 L 0.47716 1.5 0.80722 D 1 D;D;D 0.69078 0.994;0.99;0.997 D;P;D 0.80764 0.91;0.817;0.994 T 0.76206 -0.3044 10 0.66056 D 0.02 -11.5499 19.8478 0.96722 0.0:0.0:1.0:0.0 . 200;200;200 Q9C0J8-2;Q6NUQ0;Q9C0J8 .;.;WDR33_HUMAN V 200;122;200;200 ENSP00000325377:A200V;ENSP00000397547:A122V;ENSP00000376730:A200V;ENSP00000387186:A200V ENSP00000325377:A200V A - 2 0 WDR33 128238899 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.869000 0.99810 2.698000 0.92095 0.655000 0.94253 GCA WDR33-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000331141.2 - ENST00000322313.4 Missense_Mutation SNP PCPG-TCGA-QR-A70Q-Normal-SM-5EQGL NPHP4 261734 broad.mit.edu 37 1 5951016 5951016 + Missense_Mutation SNP G G A TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr1:5951016G>A ENST00000378156.4 - 17.0 2481 c.2216C>T c.(2215-2217)gCc>gTc p.A739V NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 739.0 actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632) cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923) structural molecule activity (GO:0005198) NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47.0 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) CAGGTAGCGGGCAAAGCAGCG 0.622 0 24.0 27.0 26.0 1 5951016.0 1978.0 4151.0 6129.0 SO:0001583 missense AB014573 CCDS44052.1 1p36 2010-03-26 ENSG00000131697 ENSG00000131697 261734.0 261734.0 19104.0 protein-coding gene gene with protein product """nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)""" 607215.0 11920287, 12205563 Standard XR_244787 Approved SLSN4, KIAA0673, POC10 uc001alq.2 O75161 OTTHUMG00000000701 ENST00000378156.4:c.2216C>T 1.__UNKNOWN__:g.5951016G>A ENSP00000367398:p.Ala739Val Q8IWC0 __UNKNOWN__ CCDS44052.1 . . . . . . . . . . G 0.032 -1.330645 0.01298 . . ENSG00000131697 ENST00000378156;ENST00000378160 D 0.87103 -2.21 5.61 0.824 0.18818 . 1.519840 0.04091 N 0.311309 T 0.74566 0.3733 N 0.21097 0.63 0.09310 N 1 B 0.02656 0.0 B 0.04013 0.001 T 0.60454 -0.7260 10 0.02654 T 1 . 4.4452 0.11593 0.5107:0.1659:0.3233:0.0 . 739 O75161 NPHP4_HUMAN V 739;142 ENSP00000367398:A739V ENSP00000367398:A739V A - 2 0 NPHP4 5873603 0.773000 0.28580 0.000000 0.03702 0.001000 0.01503 3.208000 0.51114 -0.085000 0.12573 -0.469000 0.05056 GCC NPHP4-001 KNOWN non_canonical_polymorphism|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000001715.2 - ENST00000378156.4 Missense_Mutation SNP PCPG-TCGA-QR-A70Q-Normal-SM-5EQGL TMC1 117531 broad.mit.edu 37 9 75420375 75420375 + Missense_Mutation SNP T T G TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr9:75420375T>G ENST00000297784.5 + 18.0 2184 c.1644T>G c.(1642-1644)tgT>tgG p.C548W TMC1_ENST00000396237.3_Missense_Mutation_p.C548W|TMC1_ENST00000340019.3_Missense_Mutation_p.C548W|TMC1_ENST00000486417.1_3'UTR NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 548.0 auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005) external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426) voltage-gated calcium channel activity (GO:0005245) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36.0 TAAGGGCATGTTTTGTGAGGT 0.353 Pancreas(75;173 1345 14232 34245 43413) 0 280.0 272.0 275.0 9 75420375.0 2203.0 4300.0 6503.0 SO:0001583 missense AF417578 CCDS6643.1 9q21 2014-01-28 ENSG00000165091 ENSG00000165091 117531.0 117531.0 16513.0 protein-coding gene gene with protein product 606706.0 """transmembrane, cochlear expressed, 1""" DFNA36, DFNB7, DFNB11 11850618, 11850623 Standard NM_138691 Approved uc004aiz.1 Q8TDI8 OTTHUMG00000020014 ENST00000297784.5:c.1644T>G 9.__UNKNOWN__:g.75420375T>G ENSP00000297784:p.Cys548Trp A8MVZ2|B1AM91 __UNKNOWN__ CCDS6643.1 . . . . . . . . . . T 16.76 3.212777 0.58452 . . ENSG00000165091 ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237 T;T;T 0.62941 -0.01;-0.01;-0.01 6.08 -0.185 0.13276 . 0.116963 0.56097 D 0.000025 T 0.56247 0.1972 N 0.14661 0.345 0.45806 D 0.998683 D;D;D 0.69078 0.997;0.997;0.997 D;D;D 0.68353 0.957;0.957;0.932 T 0.56341 -0.7995 10 0.72032 D 0.01 -20.2147 6.7617 0.23544 0.1157:0.4045:0.0:0.4798 . 515;515;548 A5D8Y1;A4FUA6;Q8TDI8 .;.;TMC1_HUMAN W 548;548;515;515;515;542;548 ENSP00000297784:C548W;ENSP00000341433:C548W;ENSP00000379538:C548W ENSP00000297784:C548W C + 3 2 TMC1 74610195 0.165000 0.22948 1.000000 0.80357 0.985000 0.73830 -0.579000 0.05834 0.159000 0.19401 0.482000 0.46254 TGT TMC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052655.1 + ENST00000297784.5 Missense_Mutation SNP PCPG-TCGA-QR-A70Q-Normal-SM-5EQGL DEFB112 245915 broad.mit.edu 37 6 50011343 50011343 + Missense_Mutation SNP A A T TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr6:50011343A>T ENST00000322246.4 - 2.0 286 c.287T>A c.(286-288)aTc>aAc p.I96N NM_001037498.1 NP_001032587.1 Q30KQ8 DB112_HUMAN defensin, beta 112 96.0 defense response to bacterium (GO:0042742) extracellular region (GO:0005576) central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19.0 Lung NSC(77;0.042) GTCCTTTGGGATCCAATTATT 0.413 0 152.0 128.0 136.0 6 50011343.0 2203.0 4300.0 6503.0 SO:0001583 missense DQ012016 CCDS34476.1 6p12.3 2010-03-30 ENSG00000180872 ENSG00000180872 245915.0 245915.0 """Defensins, beta""" 18093.0 protein-coding gene gene with protein product 11854508, 16033865 Standard NM_001037498 NM_001037498 Approved DEFB-12 uc011dws.2 Q30KQ8 OTTHUMG00000160215 ENST00000322246.4:c.287T>A 6.__UNKNOWN__:g.50011343A>T ENSP00000319126:p.Ile96Asn Q8NET0 __UNKNOWN__ CCDS34476.1 . . . . . . . . . . A 7.536 0.659665 0.14645 . . ENSG00000180872 ENST00000322246 . . . 0.649 0.649 0.17806 . . . . . T 0.05823 0.0152 N 0.08118 0 0.09310 N 1 D 0.54964 0.969 B 0.41332 0.354 T 0.15407 -1.0438 7 0.87932 D 0 . . . . . 96 Q30KQ8 DB112_HUMAN N 96 . ENSP00000319126:I96N I - 2 0 DEFB112 50119302 0.001000 0.12720 0.002000 0.10522 0.002000 0.02628 0.491000 0.22419 0.535000 0.28714 0.524000 0.50904 ATC DEFB112-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359672.1 - ENST00000322246.4 Missense_Mutation SNP PCPG-TCGA-QR-A70Q-Normal-SM-5EQGL ALB 213 broad.mit.edu 37 4 74280766 74280766 + Missense_Mutation SNP A A G TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr4:74280766A>G ENST00000503124.1 + 7.0 830 c.623A>G c.(622-624)tAt>tGt p.Y208C ALB_ENST00000295897.4_Missense_Mutation_p.Y358C|ALB_ENST00000509063.1_Missense_Mutation_p.Y358C|ALB_ENST00000415165.2_Missense_Mutation_p.Y166C|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.Y243C Q8TES7 FBF1_HUMAN albumin 0.0 apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162) cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922) NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48.0 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) TTGTATGAATATGCAAGAAGG 0.373 0 139.0 140.0 140.0 4 74280766.0 2203.0 4300.0 6503.0 SO:0001583 missense V00494 CCDS3555.1 4q13.3 2008-02-05 2006-06-30 2006-06-30 ENSG00000163631 ENSG00000163631 213.0 213.0 399.0 protein-coding gene gene with protein product 103600.0 6292049, 6192711 Standard NM_000477 NM_000477 Approved uc003hgs.4 P02768 OTTHUMG00000129919 ENST00000503124.1:c.623A>G 4.__UNKNOWN__:g.74280766A>G ENSP00000421027:p.Tyr208Cys B5MEM5|Q96IF6|Q96JG4|Q96MA8 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 13.85|13.85 2.359738|2.359738 0.41801|0.41801 .|. .|. ENSG00000163631|ENSG00000163631 ENST00000511370|ENST00000295897;ENST00000415165;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202 .|T;T;T;T;T .|0.74209 .|-0.82;-0.82;-0.82;-0.82;-0.82 5.84|5.84 -1.58|-1.58 0.08479|0.08479 .|Serum albumin-like (1);Serum albumin, N-terminal (3); .|0.630252 .|0.15625 .|N .|0.252689 D|D 0.83806|0.83806 0.5334|0.5334 M|M 0.86502|0.86502 2.82|2.82 0.09310|0.09310 N|N 1|1 .|D;D;D;D;P .|0.89917 .|1.0;0.994;1.0;0.983;0.884 .|D;D;D;P;P .|0.97110 .|1.0;0.912;0.998;0.847;0.76 T|T 0.72500|0.72500 -0.4274|-0.4274 5|10 .|0.87932 .|D .|0 -18.4176|-18.4176 6.6849|6.6849 0.23140|0.23140 0.4917:0.0:0.066:0.4422|0.4917:0.0:0.066:0.4422 .|. .|243;166;208;358;358 .|B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768 .|.;.;.;.;ALBU_HUMAN M|C 202|358;166;208;358;243;367 .|ENSP00000295897:Y358C;ENSP00000401820:Y166C;ENSP00000421027:Y208C;ENSP00000422784:Y358C;ENSP00000384695:Y243C .|ENSP00000295897:Y358C I|Y +|+ 3|2 3|0 ALB|ALB 74499630|74499630 0.012000|0.012000 0.17670|0.17670 0.021000|0.021000 0.16686|0.16686 0.756000|0.756000 0.42949|0.42949 1.352000|1.352000 0.34033|0.34033 0.079000|0.079000 0.16929|0.16929 -0.333000|-0.333000 0.08304|0.08304 ATA|TAT ALB-011 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000365419.1 + ENST00000503124.1 Missense_Mutation SNP PCPG-TCGA-QR-A70Q-Normal-SM-5EQGL ARSA 410 broad.mit.edu 37 22 51065311 51065311 + Missense_Mutation SNP G G A TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr22:51065311G>A ENST00000216124.5 - 3.0 1027 c.635C>T c.(634-636)gCc>gTc p.A212V ARSA_ENST00000453344.2_Missense_Mutation_p.A126V|ARSA_ENST00000547307.1_Missense_Mutation_p.A210V|ARSA_ENST00000547805.1_Missense_Mutation_p.A210V|ARSA_ENST00000395621.3_Missense_Mutation_p.A212V|ARSA_ENST00000395619.3_Missense_Mutation_p.A212V|ARSA_ENST00000356098.5_Missense_Mutation_p.A212V NM_000487.5 NP_000478.3 P15289 ARSA_HUMAN arylsulfatase A 210.0 A -> P (in MLD; loss of enzymatic activity; dbSNP:rs199476341). {ECO:0000269|PubMed:18693274, ECO:0000269|PubMed:19606494}.|A -> V (in MLD; dbSNP:rs74315467). {ECO:0000269|PubMed:10477432, ECO:0000269|PubMed:14517960, ECO:0000269|PubMed:7906588}. autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665) acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764) arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484) endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9.0 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141)|Suramin(DB04786) CTGGGCGTCGGCCATGAGGTC 0.657 0 92.0 108.0 103.0 22 51065311.0 2202.0 4300.0 6502.0 SO:0001583 missense X52150 CCDS14100.1, CCDS46736.1, CCDS14100.2 22q13.33 2013-09-19 ENSG00000100299 ENSG00000100299 410.0 410.0 3.1.6.8 """Arylsulfatase family""" 713.0 protein-coding gene gene with protein product """metachromatic leucodystrophy""" 607574.0 15772092 Standard NM_000487 NM_000487 Approved uc003bmz.5 P15289 OTTHUMG00000150180 ENST00000216124.5:c.635C>T 22.__UNKNOWN__:g.51065311G>A ENSP00000216124:p.Ala212Val B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0 __UNKNOWN__ CCDS14100.2 . . . . . . . . . . G 7.148 0.583216 0.13749 . . ENSG00000100299 ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619 D;D;D;D;D;D;D 0.95412 -3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7 5.37 2.93 0.34026 Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1); 0.859545 0.10840 N 0.628376 D 0.91556 0.7333 L 0.48362 1.52 0.09310 N 1 B 0.13145 0.007 B 0.11329 0.006 T 0.82750 -0.0303 10 0.35671 T 0.21 . 5.3441 0.16000 0.1936:0.0:0.6401:0.1664 . 210 P15289 ARSA_HUMAN V 212;212;210;210;212;126;212 ENSP00000348406:A212V;ENSP00000216124:A212V;ENSP00000448440:A210V;ENSP00000448932:A210V;ENSP00000378983:A212V;ENSP00000412542:A126V;ENSP00000378981:A212V ENSP00000216124:A212V A - 2 0 ARSA 49412177 0.004000 0.15560 0.269000 0.24586 0.299000 0.27559 1.494000 0.35616 1.279000 0.44446 0.505000 0.49811 GCC ARSA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000316725.2 - ENST00000216124.5 Missense_Mutation SNP PCPG-TCGA-QR-A70Q-Normal-SM-5EQGL NUP188 23511 broad.mit.edu 37 9 131760467 131760467 + Missense_Mutation SNP G G A TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr9:131760467G>A ENST00000372577.2 + 31.0 3410 c.3389G>A c.(3388-3390)cGc>cAc p.R1130H NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1130.0 carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643) breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60.0 GTGGTGCGTCGCCAGCTCTTT 0.438 0 203.0 205.0 204.0 9 131760467.0 2203.0 4300.0 6503.0 SO:0001583 missense D79991 CCDS35156.1 9q34.13 2014-01-28 2004-03-19 2004-03-24 ENSG00000095319 ENSG00000095319 23511.0 23511.0 17859.0 protein-coding gene gene with protein product 615587.0 """KIAA0169""" KIAA0169 11029043 Standard NM_015354 Approved uc004bws.2 Q5SRE5 OTTHUMG00000020768 ENST00000372577.2:c.3389G>A 9.__UNKNOWN__:g.131760467G>A ENSP00000361658:p.Arg1130His Q14675|Q2TA87|Q7Z3K8|Q8IWF1 __UNKNOWN__ CCDS35156.1 . . . . . . . . . . G 9.043 0.990052 0.18966 . . ENSG00000095319 ENST00000356693;ENST00000372577 T 0.31510 1.49 5.67 2.86 0.33363 . 0.257998 0.39544 N 0.001326 T 0.20740 0.0499 L 0.36672 1.1 0.30026 N 0.813911 B;B 0.06786 0.001;0.0 B;B 0.01281 0.0;0.0 T 0.22347 -1.0219 10 0.15499 T 0.54 -2.5035 9.5606 0.39366 0.3138:0.0:0.6862:0.0 . 463;1130 E9PET9;Q5SRE5 .;NU188_HUMAN H 1019;1130 ENSP00000361658:R1130H ENSP00000349125:R1019H R + 2 0 NUP188 130800288 0.998000 0.40836 1.000000 0.80357 0.579000 0.36224 0.717000 0.25851 0.349000 0.23975 -1.149000 0.01842 CGC NUP188-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054529.2 + ENST00000372577.2 Missense_Mutation SNP PCPG-TCGA-QR-A70Q-Normal-SM-5EQGL PPP1R13L 10848 broad.mit.edu 37 19 45900240 45900240 + Missense_Mutation SNP C C G TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr19:45900240C>G ENST00000418234.2 - 4.0 353 c.275G>C c.(274-276)gGc>gCc p.G92A PPP1R13L_ENST00000360957.5_Missense_Mutation_p.G92A NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 92.0 Pro-rich. apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229) cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634) identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26.0 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) GGTGTCTGCGCCGTCGGTGGC 0.721 Pancreas(61;1447 1663 31419 50578) 0 15.0 22.0 20.0 19 45900240.0 2155.0 4225.0 6380.0 SO:0001583 missense AF078036 CCDS33050.1 19q13.32 2013-01-10 2011-10-04 ENSG00000104881 ENSG00000104881 10848.0 10848.0 """Ankyrin repeat domain containing""" 18838.0 protein-coding gene gene with protein product 607463.0 """protein phosphatase 1, regulatory (inhibitor) subunit 13 like""" 10336463 Standard NM_006663 NM_006663 Approved RAI, IASPP uc002pbo.3 Q8WUF5 ENST00000418234.2:c.275G>C 19.__UNKNOWN__:g.45900240C>G ENSP00000403902:p.Gly92Ala Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290 __UNKNOWN__ CCDS33050.1 . . . . . . . . . . C 12.14 1.849579 0.32699 . . ENSG00000104881 ENST00000418234;ENST00000360957 T;T 0.59502 0.26;0.26 4.86 2.73 0.32206 . 0.736542 0.13822 N 0.360316 T 0.36580 0.0972 N 0.24115 0.695 0.09310 N 1 P;B 0.42456 0.78;0.147 B;B 0.39068 0.289;0.06 T 0.11966 -1.0566 10 0.10377 T 0.69 . 7.3649 0.26768 0.0:0.7966:0.0:0.2034 . 92;92 Q6ZNZ8;Q8WUF5 .;IASPP_HUMAN A 92 ENSP00000403902:G92A;ENSP00000354218:G92A ENSP00000354218:G92A G - 2 0 PPP1R13L 50592080 0.041000 0.20044 0.173000 0.22940 0.748000 0.42578 1.383000 0.34385 0.572000 0.29383 0.462000 0.41574 GGC PPP1R13L-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457586.1 - ENST00000418234.2 Missense_Mutation SNP PCPG-TCGA-QR-A70Q-Normal-SM-5EQGL HIST4H4 121504 bcgsc.ca 37 12 14924036 14924036 + Missense_Mutation SNP T T A TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr12:14924036T>A ENST00000539745.1 - 0.0 29 NM_175054.2 NP_778224.1 P62805 H4_HUMAN histone cluster 4, H4 CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234) DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2) 6.0 TCACAGCGCCTACTCAGCAGA 0.557 0 33.0 37.0 36.0 12 14924036.0 2203.0 4300.0 6503.0 SO:0001623 5_prime_UTR_variant AY128653 CCDS8665.1 12p12.3 2011-01-27 2006-10-11 ENSG00000197837 121504.0 121504.0 """Histones / Replication-dependent""" 20510.0 protein-coding gene gene with protein product 615069 """histone 4, H4""" 12408966 Standard NM_175054 NM_175054 Approved MGC24116 uc001rcf.4 P62805 ENST00000539745.1:c.-18A>T 12.__UNKNOWN__:g.14924036T>A A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7 __UNKNOWN__ CCDS8665.1 HIST4H4-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000400844.1 - ENST00000539745.1 5'UTR SNP PCPG-TCGA-QR-A70Q-Normal-SM-5EQGL NEDD4 4734 bcgsc.ca 37 15 56144735 56144735 + Missense_Mutation SNP G G A TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr15:56144735G>A ENST00000506154.1 - 9.0 2518 c.2242C>T c.(2242-2244)Cct>Tct p.P748S NEDD4_ENST00000338963.2_Missense_Mutation_p.P692S|NEDD4_ENST00000435532.3_Missense_Mutation_p.P345S|NEDD4_ENST00000508342.1_Missense_Mutation_p.P764S NM_001284339.1 NP_001271268.1 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 764.0 Mediates interaction with TNIK. {ECO:0000250}. adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162) apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151) beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842) 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) 43.0 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) GATGAAGTAGGCAAAAGCTAA 0.373 0 119.0 101.0 107.0 15 56144735.0 2193.0 4292.0 6485.0 SO:0001583 missense D42055 CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1 15q 2012-02-23 2012-02-23 ENSG00000069869 ENSG00000069869 4734.0 4734.0 7727.0 protein-coding gene gene with protein product """receptor-potentiating factor 1""" 602278 """neural precursor cell expressed, developmentally down-regulated 4""" 9073511, 8649367 Standard NM_198400 XR_243101 Approved KIAA0093, MGC176705, NEDD4-1, RPF1 uc002adi.3 P46934 OTTHUMG00000132015 ENST00000506154.1:c.2242C>T 15.__UNKNOWN__:g.56144735G>A ENSP00000422705:p.Pro748Ser A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89 __UNKNOWN__ . . . . . . . . . . G 21.0 4.085540 0.76642 . . ENSG00000069869 ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154 T;T;T;T 0.19938 2.12;2.2;2.13;2.11 5.13 5.13 0.70059 WW/Rsp5/WWP (1); 0.300942 0.33040 N 0.005359 T 0.37892 0.1020 L 0.36672 1.1 0.80722 D 1 D;D;D;D 0.89917 1.0;0.975;0.972;0.984 D;P;P;P 0.87578 0.998;0.875;0.87;0.79 T 0.06356 -1.0831 10 0.42905 T 0.14 . 17.5976 0.88016 0.0:0.0:1.0:0.0 . 748;345;764;692 P46934-2;P46934-4;P46934;P46934-3 .;.;NEDD4_HUMAN;. S 764;345;692;748 ENSP00000424827:P764S;ENSP00000410613:P345S;ENSP00000345530:P692S;ENSP00000422705:P748S ENSP00000345530:P692S P - 1 0 NEDD4 53932027 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 9.007000 0.93597 2.387000 0.81309 0.555000 0.69702 CCT NEDD4-003 KNOWN basic|exp_conf protein_coding protein_coding OTTHUMT00000359818.1 - ENST00000506154.1 Missense_Mutation SNP PCPG-TCGA-QR-A70Q-Normal-SM-5EQGL MYO18A 399687 ucsc.edu 37 17 27438454 27438454 + Missense_Mutation SNP T T C TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr17:27438454T>C ENST00000531253.1 - 17.0 3020 c.2888A>G c.(2887-2889)cAg>cGg p.Q963R MYO18A_ENST00000354329.4_Missense_Mutation_p.Q963R|MYO18A_ENST00000527372.1_Missense_Mutation_p.Q963R|MYO18A_ENST00000533112.1_Missense_Mutation_p.Q963R NM_203318.1 NP_976063.1 Q92614 MY18A_HUMAN myosin XVIIIA 963.0 Myosin motor. actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714) actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802) actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822) NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36.0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CTGGGAGTCCTGCAGGAGCCG 0.602 OREG0024287 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) Esophageal Squamous(182;472 2015 7001 15270 22562) 0 58.0 61.0 60.0 17 27438454.0 1916.0 4125.0 6041.0 SO:0001583 missense D86970 CCDS45641.1, CCDS45642.1 17q11.2 2011-09-27 ENSG00000196535 ENSG00000196535 399687.0 399687.0 """Myosins / Myosin superfamily : Class XVIII""" 31104.0 protein-coding gene gene with protein product 610067 12761286 Standard NM_078471 NM_078471 Approved KIAA0216, MysPDZ uc002hdt.1 Q92614 OTTHUMG00000166360 ENST00000531253.1:c.2888A>G 17.__UNKNOWN__:g.27438454T>C ENSP00000434228:p.Gln963Arg 794.0 Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8 __UNKNOWN__ CCDS45641.1 . . . . . . . . . . T 17.16 3.318868 0.60524 . . ENSG00000196535 ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428 D;D;D;D 0.87650 -2.28;-2.28;-2.28;-2.28 5.29 5.29 0.74685 Myosin head, motor domain (2); 0.000000 0.85682 D 0.000000 D 0.90120 0.6913 L 0.52823 1.66 0.45056 D 0.998071 P;P;P;P;D 0.52996 0.694;0.867;0.933;0.933;0.957 P;P;P;P;P 0.57101 0.452;0.461;0.623;0.623;0.813 D 0.91156 0.4957 10 0.72032 D 0.01 . 15.2261 0.73352 0.0:0.0:0.0:1.0 . 632;575;963;963;963 Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614 .;.;.;.;MY18A_HUMAN R 963;963;963;963;963;575 ENSP00000346291:Q963R;ENSP00000435932:Q963R;ENSP00000434228:Q963R;ENSP00000437073:Q963R ENSP00000346291:Q963R Q - 2 0 MYO18A 24462580 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 5.829000 0.69316 1.997000 0.58415 0.460000 0.39030 CAG MYO18A-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389395.1 - ENST00000531253.1 Missense_Mutation SNP PCPG-TCGA-QR-A70Q-Normal-SM-5EQGL MDN1 23195 hgsc.bcm.edu 37 6 90417109 90417109 + Missense_Mutation SNP A A G TCGA-QR-A70Q-01A-13D-A35D-08 TCGA-QR-A70Q-10A-01D-A35B-08 A A . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq ceb88eff-474b-4640-bb0f-c69066b69dac e2fe5304-a8b9-49ba-997c-7c930b54f411 g.chr6:90417109A>G ENST00000369393.3 - 52.0 8100 c.7985T>C c.(7984-7986)gTt>gCt p.V2662A MDN1_ENST00000428876.1_Missense_Mutation_p.V2662A Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2662.0 ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082) 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) 218.0 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) CATTCTCAAAACACTCTCTCT 0.363 0 138.0 135.0 136.0 6 90417109.0 2203.0 4300.0 6503.0 SO:0001583 missense AF503925 CCDS5024.1 6q15 2014-01-28 ENSG00000112159 ENSG00000112159 23195.0 23195.0 18302.0 protein-coding gene gene with protein product 9205841, 12102729 Standard XM_005248699 Approved KIAA0301 uc003pnn.1 Q9NU22 OTTHUMG00000015213 ENST00000369393.3:c.7985T>C 6.__UNKNOWN__:g.90417109A>G ENSP00000358400:p.Val2662Ala O15019|Q5T794 __UNKNOWN__ CCDS5024.1 . . . . . . . . . . A 11.63 1.697414 0.30142 . . ENSG00000112159 ENST00000369393;ENST00000428876 T;T 0.03272 3.99;3.99 5.93 2.29 0.28610 . 0.142073 0.45606 N 0.000356 T 0.00496 0.0016 N 0.08118 0 0.25186 N 0.990161 B 0.15473 0.013 B 0.06405 0.002 T 0.47861 -0.9084 10 0.02654 T 1 . 8.3364 0.32217 0.7103:0.0:0.2897:0.0 . 2662 Q9NU22 MDN1_HUMAN A 2662 ENSP00000358400:V2662A;ENSP00000413970:V2662A ENSP00000358400:V2662A V - 2 0 MDN1 90473830 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 1.219000 0.32479 1.027000 0.39758 0.482000 0.46254 GTT MDN1-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041514.2 - ENST00000369393.3 Missense_Mutation SNP PCPG-TCGA-QR-A70Q-Normal-SM-5EQGL FOXD4 2298 broad.mit.edu 37 9 117692 117692 + Missense_Mutation SNP C C T TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr9:117692C>T ENST00000382500.2 - 1.0 725 c.428G>A c.(427-429)cGc>cAc p.R143H NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 143.0 transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14.0 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GGGGAACTTGCGGCGGTAGTA 0.642 0 41.0 67.0 58.0 9 117692.0 2098.0 4152.0 6250.0 SO:0001583 missense U13223 CCDS34975.1 9p24.3 2014-09-17 ENSG00000170122 ENSG00000170122 2298.0 2298.0 """Forkhead boxes""" 3805.0 protein-coding gene gene with protein product 601092.0 FKHL9 7957066, 8825632, 12234674 Standard NM_207305 NM_207305 Approved FREAC5, FOXD4a uc003zfz.4 Q12950 OTTHUMG00000021015 ENST00000382500.2:c.428G>A 9.__UNKNOWN__:g.117692C>T ENSP00000371940:p.Arg143His B2RN05|B9EGL7|Q5VVK1|Q8WXT6 __UNKNOWN__ CCDS34975.1 . . . . . . . . . . . 16.90 3.250380 0.59212 . . ENSG00000170122 ENST00000382500 D 0.95518 -3.73 2.24 2.24 0.28232 Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3); 0.000000 0.35870 U 0.002935 D 0.91099 0.7198 N 0.03194 -0.395 0.32415 N 0.550161 D 0.76494 0.999 D 0.67725 0.953 D 0.88700 0.3215 10 0.72032 D 0.01 . 3.6941 0.08357 0.0:0.5791:0.2634:0.1575 . 143 Q12950 FOXD4_HUMAN H 143 ENSP00000371940:R143H ENSP00000371940:R143H R - 2 0 FOXD4 107692 1.000000 0.71417 1.000000 0.80357 0.936000 0.57629 2.898000 0.48672 1.253000 0.44018 0.291000 0.19559 CGC FOXD4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055433.1 - ENST00000382500.2 Missense_Mutation SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH SUN1 23353 broad.mit.edu 37 7 882981 882981 + Missense_Mutation SNP G G T TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr7:882981G>T ENST00000405266.1 + 5.0 506 c.482G>T c.(481-483)gGa>gTa p.G161V SUN1_ENST00000389574.3_Missense_Mutation_p.G111V|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000456758.2_Missense_Mutation_p.G219V|SUN1_ENST00000457378.2_Missense_Mutation_p.G182V|SUN1_ENST00000401592.1_Missense_Mutation_p.G161V|SUN1_ENST00000403868.1_Missense_Mutation_p.G161V|SUN1_ENST00000425407.2_Missense_Mutation_p.G111V O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 161.0 cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292) acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993) NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30.0 ACTTTAGGTGGAAATAAAGCT 0.468 0 74.0 83.0 80.0 7 882981.0 1932.0 4113.0 6045.0 SO:0001583 missense AF202724 CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1 7p22.3 2010-01-27 2010-01-27 2010-01-27 ENSG00000164828 ENSG00000164828 23353.0 23353.0 18587.0 protein-coding gene gene with protein product """Sad1 unc-84 domain protein 1""" 607723.0 """unc-84 homolog A (C. elegans)""" UNC84A 11593002 Standard NM_025154 NM_001130965 Approved KIAA0810, FLJ12407 uc021zym.1 O94901 OTTHUMG00000151426 ENST00000405266.1:c.482G>T 7.__UNKNOWN__:g.882981G>T ENSP00000384116:p.Gly161Val A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 11.62|11.62 1.691605|1.691605 0.30052|0.30052 .|. .|. ENSG00000164828|ENSG00000164828 ENST00000419312|ENST00000456758;ENST00000389574;ENST00000457378;ENST00000435699;ENST00000405266;ENST00000401592;ENST00000403868;ENST00000297445;ENST00000425407 .|T;T;T;T;T;T;T;T .|0.54479 .|2.13;1.56;0.79;0.57;2.14;2.13;0.81;1.56 4.59|4.59 2.66|2.66 0.31614|0.31614 .|. .|0.648698 .|0.15865 .|N .|0.240810 .|T .|0.59878 .|0.2226 M|M 0.71581|0.71581 2.175|2.175 0.80722|0.80722 D|D 1|1 .|P;D;P;P .|0.61697 .|0.825;0.99;0.886;0.484 .|P;P;P;B .|0.52909 .|0.511;0.713;0.586;0.207 .|T .|0.55736 .|-0.8094 .|10 .|0.33141 .|T .|0.24 -10.4919|-10.4919 10.5913|10.5913 0.45310|0.45310 0.0:0.1448:0.7049:0.1503|0.0:0.1448:0.7049:0.1503 .|. .|161;182;111;161 .|E9PF23;F8WD13;O94901-5;O94901-3 .|.;.;.;. X|V 2|219;111;182;161;161;161;161;161;111 .|ENSP00000388743:G219V;ENSP00000374225:G111V;ENSP00000395952:G182V;ENSP00000388430:G161V;ENSP00000384116:G161V;ENSP00000384015:G161V;ENSP00000383947:G161V;ENSP00000392309:G111V .|ENSP00000297445:G161V E|G +|+ 1|2 0|0 SUN1|SUN1 849507|849507 1.000000|1.000000 0.71417|0.71417 0.638000|0.638000 0.29380|0.29380 0.705000|0.705000 0.40729|0.40729 3.411000|3.411000 0.52672|0.52672 0.421000|0.421000 0.25980|0.25980 0.591000|0.591000 0.81541|0.81541 GAA|GGA SUN1-001 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000322566.1 + ENST00000405266.1 Missense_Mutation SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH PRKD2 25865 broad.mit.edu 37 19 47197153 47197153 + Missense_Mutation SNP C C A TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr19:47197153C>A ENST00000291281.4 - 10.0 1780 c.1555G>T c.(1555-1557)Gcc>Tcc p.A519S PRKD2_ENST00000433867.1_Missense_Mutation_p.A519S|PRKD2_ENST00000595515.1_Missense_Mutation_p.A519S|PRKD2_ENST00000600194.1_Missense_Mutation_p.A362S|PRKD2_ENST00000601806.1_Missense_Mutation_p.A362S Q9BZL6 KPCD2_HUMAN protein kinase D2 519.0 angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674) 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) 41.0 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) TGGCCTGGGGCGCTGGGTGCG 0.672 0 54.0 58.0 57.0 19 47197153.0 2203.0 4300.0 6503.0 SO:0001583 missense AF151021 CCDS12689.1, CCDS59401.1 19q13.2 2013-01-10 ENSG00000105287 25865.0 25865.0 """Pleckstrin homology (PH) domain containing""" 17293.0 protein-coding gene gene with protein product 607074.0 11042152, 11062248 Standard NM_016457 NM_001079880 Approved PKD2, HSPC187, DKFZP586E0820 uc002pfj.3 Q9BZL6 ENST00000291281.4:c.1555G>T 19.__UNKNOWN__:g.47197153C>A ENSP00000291281:p.Ala519Ser Q8TB08|Q9P0T6|Q9Y3X8 __UNKNOWN__ CCDS12689.1 . . . . . . . . . . C 5.637 0.302135 0.10678 . . ENSG00000105287 ENST00000291281;ENST00000433867 T;T 0.64991 -0.13;-0.13 5.08 -2.62 0.06152 . 0.150448 0.42548 D 0.000695 T 0.31918 0.0812 N 0.08118 0 0.29016 N 0.886558 B;B 0.15473 0.001;0.013 B;B 0.17979 0.008;0.02 T 0.35549 -0.9784 10 0.07175 T 0.84 -14.5096 11.0448 0.47852 0.0:0.4617:0.0:0.5383 . 519;519 E7ER94;Q9BZL6 .;KPCD2_HUMAN S 519 ENSP00000291281:A519S;ENSP00000393978:A519S ENSP00000291281:A519S A - 1 0 PRKD2 51888993 0.004000 0.15560 0.472000 0.27241 0.953000 0.61014 0.112000 0.15479 -0.234000 0.09782 0.555000 0.69702 GCC PRKD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466591.1 - ENST00000291281.4 Missense_Mutation SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH WDR63 126820 broad.mit.edu 37 1 85547042 85547042 + Missense_Mutation SNP G G A TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr1:85547042G>A ENST00000294664.6 + 4.0 409 c.229G>A c.(229-231)Gac>Aac p.D77N WDR63_ENST00000370596.1_Missense_Mutation_p.D77N|WDR63_ENST00000326813.8_Missense_Mutation_p.D77N NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 77.0 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) 36.0 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) CATTTTTGAGGACCTGCGCAA 0.378 0 107.0 108.0 108.0 1 85547042.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS702.1, CCDS72818.1 1p22.3 2014-02-21 2013-02-19 2013-02-19 ENSG00000162643 ENSG00000162643 126820.0 126820.0 """WD repeat domain containing""" 30711.0 protein-coding gene gene with protein product 21953912 Standard NM_145172 XM_005270438 Approved DIC3, FLJ30067, NYD-SP29 uc001dkt.3 Q8IWG1 OTTHUMG00000009953 ENST00000294664.6:c.229G>A 1.__UNKNOWN__:g.85547042G>A ENSP00000294664:p.Asp77Asn A8K988|Q96L72|Q96NU4 __UNKNOWN__ CCDS702.1 . . . . . . . . . . G 19.58 3.854088 0.71719 . . ENSG00000162643 ENST00000370596;ENST00000326813;ENST00000294664;ENST00000528899 T;T;T;T 0.47528 0.84;0.84;0.84;0.84 5.84 5.84 0.93424 . 0.000000 0.85682 D 0.000000 T 0.61702 0.2368 M 0.63428 1.95 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 0.998;1.0 T 0.54370 -0.8304 10 0.35671 T 0.21 -0.447 20.1484 0.98083 0.0:0.0:1.0:0.0 . 77;77 Q8IWG1-2;Q8IWG1 .;WDR63_HUMAN N 77;77;77;64 ENSP00000359628:D77N;ENSP00000317463:D77N;ENSP00000294664:D77N;ENSP00000435102:D64N ENSP00000294664:D77N D + 1 0 WDR63 85319630 1.000000 0.71417 0.197000 0.23402 0.045000 0.14185 9.135000 0.94478 2.770000 0.95276 0.650000 0.86243 GAC WDR63-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000027565.2 + ENST00000294664.6 Missense_Mutation SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH TTI1 9675 broad.mit.edu 37 20 36640810 36640810 + Missense_Mutation SNP C C T TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr20:36640810C>T ENST00000373448.2 - 3.0 1647 c.1409G>A c.(1408-1410)cGc>cAc p.R470H TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000449821.1_Missense_Mutation_p.R470H|TTI1_ENST00000373447.3_Missense_Mutation_p.R470H NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 470.0 regulation of TOR signaling (GO:0032006) cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47.0 CCTCTGGATGCGGTTCCAAGG 0.463 0 63.0 67.0 66.0 20 36640810.0 2203.0 4300.0 6503.0 SO:0001583 missense BC013121 CCDS13300.1 20q11.23 2011-11-10 2011-11-10 2010-06-22 ENSG00000101407 ENSG00000101407 9675.0 9675.0 29029.0 protein-coding gene gene with protein product """smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)""" 614425.0 """KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)""" KIAA0406 9455477, 20427287, 20371770 Standard NM_014657 NM_014657 Approved smg-10 uc002xhl.3 O43156 OTTHUMG00000032433 ENST00000373448.2:c.1409G>A 20.__UNKNOWN__:g.36640810C>T ENSP00000362547:p.Arg470His D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0 __UNKNOWN__ CCDS13300.1 . . . . . . . . . . c 0.557 -0.847090 0.02651 . . ENSG00000101407 ENST00000373448;ENST00000373447;ENST00000449821 T;T;T 0.68479 -0.33;-0.33;-0.33 5.08 -1.07 0.09968 Armadillo-type fold (1); 1.096590 0.06874 N 0.801308 T 0.50718 0.1632 N 0.25647 0.755 0.09310 N 1 B 0.10296 0.003 B 0.06405 0.002 T 0.34378 -0.9831 10 0.40728 T 0.16 -25.4045 7.537 0.27717 0.0:0.5185:0.1562:0.3253 . 470 O43156 TTI1_HUMAN H 470 ENSP00000362547:R470H;ENSP00000362546:R470H;ENSP00000407270:R470H ENSP00000362546:R470H R - 2 0 TTI1 36074224 0.001000 0.12720 0.000000 0.03702 0.286000 0.27126 0.351000 0.20096 -0.395000 0.07715 -0.285000 0.09966 CGC TTI1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079138.2 - ENST00000373448.2 Missense_Mutation SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH TRBV6-5 0 broad.mit.edu 37 7 142180979 142180979 + RNA SNP C C T TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr7:142180979C>T ENST00000390368.2 - 0.0 37 T cell receptor beta variable 6-5 GAGGGGTCTTCTGTATCTGTG 0.602 0 52.0 58.0 56.0 7 142180979.0 1954.0 4156.0 6110.0 L36092 7q34 2012-02-07 ENSG00000211721 ENSG00000211721 28602.0 28602.0 """T cell receptors / TRB locus""" 12230.0 other T cell receptor gene 8650574 Standard NG_001333 NG_001333 Approved TRBV65, TCRBV13S1, TCRBV6S5 OTTHUMG00000158519 ENST00000390368.2: 7.__UNKNOWN__:g.142180979C>T __UNKNOWN__ TRBV6-5-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene TR_V_gene OTTHUMT00000351225.1 - ENST00000390368.2 RNA SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH CRELD2 79174 broad.mit.edu 37 22 50316920 50316920 + Missense_Mutation SNP G G A TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr22:50316920G>A ENST00000404488.3 + 8.0 1009 c.874G>A c.(874-876)Gct>Act p.A292T CRELD2_ENST00000407217.3_Missense_Mutation_p.A243T|CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000328268.4_Missense_Mutation_p.A243T NM_001135101.1 NP_001128573.1 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 243.0 EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794) calcium ion binding (GO:0005509) endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3) 9.0 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) TCCCTGCAGCGCTGCGCAGTT 0.692 0 21.0 24.0 23.0 22 50316920.0 2201.0 4295.0 6496.0 SO:0001583 missense BC050675 CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1 22q13.33 2005-12-08 ENSG00000184164 ENSG00000184164 79174.0 79174.0 28150.0 protein-coding gene gene with protein product 607171.0 12137942 Standard NM_024324 XM_005261737 Approved MGC11256 uc010hal.2 Q6UXH1 OTTHUMG00000150292 ENST00000404488.3:c.874G>A 22.__UNKNOWN__:g.50316920G>A ENSP00000383938:p.Ala292Thr A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47 __UNKNOWN__ CCDS46730.1 . . . . . . . . . . G 11.41 1.629362 0.28978 . . ENSG00000184164 ENST00000404488;ENST00000328268;ENST00000407217 T;T;D 0.92397 0.62;0.42;-3.03 4.57 -0.118 0.13547 EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1); 0.757438 0.12278 N 0.483217 T 0.76190 0.3953 N 0.16656 0.425 0.09310 N 0.999999 B;B;P;B;B 0.39094 0.09;0.371;0.659;0.111;0.072 B;B;B;B;B 0.21708 0.005;0.031;0.036;0.004;0.004 T 0.67941 -0.5540 10 0.13470 T 0.59 . 4.5619 0.12165 0.3352:0.0:0.5199:0.145 . 243;292;243;243;243 Q6UXH1-2;Q6UXH1-5;A5GZA6;Q6UXH1;Q6UXH1-3 .;.;.;CREL2_HUMAN;. T 292;243;243 ENSP00000383938:A292T;ENSP00000332223:A243T;ENSP00000386034:A243T ENSP00000332223:A243T A + 1 0 CRELD2 48702924 0.822000 0.29219 0.000000 0.03702 0.000000 0.00434 3.180000 0.50895 -0.215000 0.10063 -0.482000 0.04802 GCT CRELD2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000317410.1 + ENST00000404488.3 Missense_Mutation SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH LDLRAD2 401944 broad.mit.edu 37 1 22142457 22142457 + Missense_Mutation SNP G G A TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr1:22142457G>A ENST00000344642.2 + 3.0 720 c.533G>A c.(532-534)cGc>cAc p.R178H LDLRAD2_ENST00000543870.1_Missense_Mutation_p.R178H NM_001013693.2 NP_001013715.2 Q5SZI1 LRAD2_HUMAN low density lipoprotein receptor class A domain containing 2 178.0 LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}. integral component of membrane (GO:0016021) endometrium(2)|large_intestine(1)|lung(3) 6.0 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) GCCTACTTCCGCTGCCAGAAT 0.622 0 G HIS/ARG 1,4405 2.1+/-5.4 0,1,2202 85.0 78.0 80.0 533 -1.5 0.8 1 80.0 0,8600 0,0,4300 no missense LDLRAD2 NM_001013693.2 29 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 benign 178/273 22142457.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AL590103 CCDS30624.1 1p36.12 2008-02-05 2005-10-07 ENSG00000187942 ENSG00000187942 401944.0 401944.0 32071.0 protein-coding gene gene with protein product """low density lipoprotein receptor A domain containing 2""" Standard NM_001013693 NM_001013693 Approved uc001bfg.1 Q5SZI1 OTTHUMG00000002675 ENST00000344642.2:c.533G>A 1.__UNKNOWN__:g.22142457G>A ENSP00000340988:p.Arg178His B9EJB3|Q6ZSN5 __UNKNOWN__ CCDS30624.1 . . . . . . . . . . G 12.95 2.090065 0.36855 2.27E-4 0.0 ENSG00000187942 ENST00000344642;ENST00000543870 D;D 0.96136 -3.92;-3.92 4.29 -1.52 0.08637 . 1.045830 0.07567 N 0.917991 D 0.89072 0.6611 L 0.41356 1.27 0.25032 N 0.991268 B 0.29936 0.262 B 0.28849 0.095 T 0.77905 -0.2413 10 0.13853 T 0.58 -9.3861 1.2341 0.01949 0.2035:0.3268:0.3026:0.1671 . 178 Q5SZI1 LRAD2_HUMAN H 178 ENSP00000340988:R178H;ENSP00000444097:R178H ENSP00000340988:R178H R + 2 0 LDLRAD2 22015044 0.020000 0.18652 0.847000 0.33407 0.743000 0.42351 -0.686000 0.05161 0.082000 0.17018 -0.374000 0.07098 CGC LDLRAD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007601.1 + ENST00000344642.2 Missense_Mutation SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH SORCS3 22986 broad.mit.edu 37 10 106982994 106982994 + Missense_Mutation SNP G G A TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr10:106982994G>A ENST00000369701.3 + 20.0 3082 c.2855G>A c.(2854-2856)gGc>gAc p.G952D SORCS3_ENST00000369699.4_3'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 952.0 learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452) integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481) neuropeptide receptor activity (GO:0008188) 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) 131.0 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) TGGTGGTTCGGCAATAGCACA 0.458 NSCLC(116;1497 1690 7108 13108 14106) 0 200.0 193.0 196.0 10 106982994.0 2203.0 4300.0 6503.0 SO:0001583 missense AB028982 CCDS7558.1 10q23-q25 2006-04-12 ENSG00000156395 ENSG00000156395 22986.0 22986.0 16699.0 protein-coding gene gene with protein product 606285.0 11499680 Standard NM_014978 NM_014978 Approved KIAA1059, SORCS uc001kyi.1 Q9UPU3 OTTHUMG00000019011 ENST00000369701.3:c.2855G>A 10.__UNKNOWN__:g.106982994G>A ENSP00000358715:p.Gly952Asp Q5VXF9|Q9NQJ2 __UNKNOWN__ CCDS7558.1 . . . . . . . . . . G 16.12 3.032574 0.54790 . . ENSG00000156395 ENST00000369701 T 0.59906 0.23 5.06 5.06 0.68205 PKD domain (1); 0.329234 0.33040 N 0.005351 T 0.59838 0.2223 M 0.69523 2.12 0.80722 D 1 B 0.27166 0.17 B 0.28465 0.09 T 0.57911 -0.7729 9 . . . . 18.7786 0.91922 0.0:0.0:1.0:0.0 . 952 Q9UPU3 SORC3_HUMAN D 952 ENSP00000358715:G952D . G + 2 0 SORCS3 106972984 1.000000 0.71417 0.998000 0.56505 0.992000 0.81027 5.087000 0.64480 2.516000 0.84829 0.563000 0.77884 GGC SORCS3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050221.1 + ENST00000369701.3 Missense_Mutation SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH MGAM 8972 broad.mit.edu 37 7 141708443 141708443 + Nonsense_Mutation SNP G G T TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr7:141708443G>T ENST00000475668.2 + 3.0 319 c.265G>T c.(265-267)Gaa>Taa p.E89* MGAM_ENST00000549489.2_Nonsense_Mutation_p.E89* O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 89.0 P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}. carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13.0 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGTTTCTGCTGAATGTCCAGT 0.448 0 94.0 92.0 93.0 7 141708443.0 1887.0 4105.0 5992.0 SO:0001587 stop_gained AF016833 CCDS47727.1 7q34 2012-10-03 ENSG00000257335 ENSG00000257335 8972.0 8972.0 7043.0 protein-coding gene gene with protein product 154360.0 9446624 Standard NM_004668 Approved MGA uc003vwy.3 O43451 OTTHUMG00000158395 ENST00000475668.2:c.265G>T 7.__UNKNOWN__:g.141708443G>T ENSP00000417515:p.Glu89* Q0VAX6|Q75ME7|Q86UM5 __UNKNOWN__ . . . . . . . . . . G 20.6 4.010148 0.75046 . . ENSG00000257335 ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668 . . . 4.18 1.37 0.22104 . 2.011330 0.02571 N 0.097759 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.10111 T 0.7 . 6.415 0.21712 0.3133:0.0:0.6867:0.0 . . . . X 89 . ENSP00000373973:E89X E + 1 0 MGAM 141354912 0.000000 0.05858 0.000000 0.03702 0.034000 0.12701 0.118000 0.15605 0.302000 0.22762 0.655000 0.94253 GAA MGAM-007 PUTATIVE basic|appris_principal protein_coding protein_coding OTTHUMT00000351290.4 + ENST00000475668.2 Nonsense_Mutation SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH ODAM 54959 broad.mit.edu 37 4 71062416 71062416 + Missense_Mutation SNP C C G TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr4:71062416C>G ENST00000396094.2 + 2.0 107 c.59C>G c.(58-60)cCa>cGa p.P20R NM_017855.3 NP_060325.3 A1E959 ODAM_HUMAN odontogenic, ameloblast asssociated 20.0 biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634) NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2) 20.0 TAGCTTATCCCACAGCGTCTC 0.333 0 69.0 62.0 64.0 4 71062416.0 1824.0 4080.0 5904.0 SO:0001583 missense AK000520 CCDS3536.2 4q13.3 2010-11-23 ENSG00000109205 ENSG00000109205 54959.0 54959.0 26043.0 protein-coding gene gene with protein product 614843.0 14647039 Standard NM_017855 NM_017855 Approved APin, FLJ20513 uc003hfc.3 A1E959 OTTHUMG00000129406 ENST00000396094.2:c.59C>G 4.__UNKNOWN__:g.71062416C>G ENSP00000379401:p.Pro20Arg Q8WWE5|Q9NWZ9 __UNKNOWN__ CCDS3536.2 . . . . . . . . . . C 14.08 2.428435 0.43122 . . ENSG00000109205 ENST00000396094 T 0.53423 0.62 5.39 5.39 0.77823 . . . . . T 0.56601 0.1996 L 0.39898 1.24 0.80722 D 1 D 0.67145 0.996 P 0.62298 0.9 T 0.53858 -0.8379 9 0.48119 T 0.1 -3.6559 14.5147 0.67811 0.0:1.0:0.0:0.0 . 20 A1E959 ODAM_HUMAN R 20 ENSP00000379401:P20R ENSP00000379401:P20R P + 2 0 ODAM 71097005 0.984000 0.35163 0.951000 0.38953 0.210000 0.24377 3.347000 0.52200 2.804000 0.96469 0.650000 0.86243 CCA ODAM-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251562.1 + ENST00000396094.2 Missense_Mutation SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH ZNF773 374928 broad.mit.edu 37 19 58016080 58016080 + Missense_Mutation SNP G G T TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr19:58016080G>T ENST00000282292.4 + 2.0 229 c.89G>T c.(88-90)aGa>aTa p.R30I AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000598770.1_Missense_Mutation_p.R29I|ZNF773_ENST00000593916.1_Missense_Mutation_p.R29I|ZNF773_ENST00000599847.1_Missense_Mutation_p.R30I NM_198542.1 NP_940944.1 Q6PK81 ZN773_HUMAN zinc finger protein 773 30.0 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22.0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) GAGGAATGGAGATTGCTTGAT 0.532 0 179.0 153.0 162.0 19 58016080.0 2203.0 4300.0 6503.0 SO:0001583 missense BC005167 CCDS33134.1 19q13.43 2013-01-08 2006-12-15 2006-12-15 ENSG00000152439 374928.0 374928.0 """Zinc fingers, C2H2-type"", ""-""" 30487.0 protein-coding gene gene with protein product """zinc finger protein 419B""" ZNF419B 12477932 Standard NM_198542 NM_198542 Approved MGC4728 uc002qox.3 Q6PK81 ENST00000282292.4:c.89G>T 19.__UNKNOWN__:g.58016080G>T ENSP00000282292:p.Arg30Ile Q96DL8 __UNKNOWN__ CCDS33134.1 . . . . . . . . . . G 12.96 2.095047 0.36952 . . ENSG00000152439 ENST00000332030;ENST00000282292 T 0.01838 4.61 1.39 0.261 0.15592 Krueppel-associated box (4); . . . . T 0.04137 0.0115 L 0.56769 1.78 0.32365 N 0.556623 P;D 0.61080 0.666;0.989 B;P 0.52159 0.22;0.691 T 0.41342 -0.9514 9 0.44086 T 0.13 . 2.954 0.05870 0.1991:0.2917:0.5092:0.0 . 29;30 Q6PK81-2;Q6PK81 .;ZN773_HUMAN I 53;30 ENSP00000282292:R30I ENSP00000282292:R30I R + 2 0 ZNF773 62707892 0.000000 0.05858 0.222000 0.23844 0.854000 0.48673 -0.485000 0.06520 0.147000 0.19030 0.305000 0.20034 AGA ZNF773-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000466475.1 + ENST00000282292.4 Missense_Mutation SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH GDF1 0 broad.mit.edu 37 19 18989771 18989771 + Silent SNP G G A TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr19:18989771G>A ENST00000247005.6 - 0.0 1001 CERS1_ENST00000429504.2_Silent_p.A326A|CERS1_ENST00000542296.2_Silent_p.A228A|CERS1_ENST00000427170.2_Silent_p.A326A P27539 GDF1_HUMAN growth differentiation factor 1 growth (GO:0040007) extracellular space (GO:0005615) TCTGGGCCTCGGCTGTGTCAT 0.642 0 43.0 49.0 47.0 19 18989771.0 2123.0 4223.0 6346.0 SO:0001623 5_prime_UTR_variant M62302 CCDS42526.1 19p13.11 2014-01-30 ENSG00000130283 ENSG00000130283 2657.0 2657.0 """Endogenous ligands""" 4214.0 protein-coding gene gene with protein product 602880.0 2034669 Standard NM_001492 NM_001492 Approved P27539 ENST00000247005.6:c.-345C>T 19.__UNKNOWN__:g.18989771G>A O43344 __UNKNOWN__ CCDS42526.1 GDF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465926.1 - ENST00000247005.6 5'UTR SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH NRSN2 80023 broad.mit.edu 37 20 333947 333947 + Missense_Mutation SNP G G A TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr20:333947G>A ENST00000382291.3 + 4.0 523 c.283G>A c.(283-285)Gag>Aag p.E95K NRSN2_ENST00000382285.2_Missense_Mutation_p.E95K|NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000492242.1_3'UTR NM_024958.2 NP_079234.1 Q9GZP1 NRSN2_HUMAN neurensin 2 95.0 integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133) endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8.0 all_cancers(10;0.0834) GGGCATCGGTGAGGGTGAGTT 0.652 0 87.0 82.0 84.0 20 333947.0 2203.0 4300.0 6503.0 SO:0001583 missense AL136915 CCDS12996.1 20p13 2008-02-04 2006-07-04 2006-07-04 ENSG00000125841 ENSG00000125841 80023.0 80023.0 16229.0 protein-coding gene gene with protein product 610666.0 """chromosome 20 open reading frame 98""" C20orf98 16527258 Standard NM_024958 NM_024958 Approved dJ1103G7.6 uc002wdi.4 Q9GZP1 OTTHUMG00000031628 ENST00000382291.3:c.283G>A 20.__UNKNOWN__:g.333947G>A ENSP00000371728:p.Glu95Lys A8K3B2|Q6FII5|Q9NUD3 __UNKNOWN__ CCDS12996.1 . . . . . . . . . . G 13.81 2.348610 0.41599 . . ENSG00000125841 ENST00000382291;ENST00000382285 T;T 0.18960 2.18;2.18 4.76 2.76 0.32466 . 0.421310 0.24511 N 0.037885 T 0.17662 0.0424 L 0.56769 1.78 0.09310 N 1 B 0.29037 0.231 B 0.25291 0.059 T 0.16660 -1.0395 10 0.42905 T 0.14 -4.051 5.2707 0.15622 0.1043:0.0:0.6729:0.2228 . 95 Q9GZP1 NRSN2_HUMAN K 95 ENSP00000371728:E95K;ENSP00000371722:E95K ENSP00000371722:E95K E + 1 0 NRSN2 281947 0.279000 0.24239 0.001000 0.08648 0.979000 0.70002 2.845000 0.48254 0.570000 0.29347 0.643000 0.83706 GAG NRSN2-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077446.1 + ENST00000382291.3 Missense_Mutation SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH HEPN1 641654 broad.mit.edu 37 11 124789688 124789688 + Silent SNP C C T TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr11:124789688C>T ENST00000408930.5 + 1.0 543 c.42C>T c.(40-42)ggC>ggT p.G14G HEPACAM_ENST00000298251.4_3'UTR NM_001037558.2 NP_001032647.2 Q6WQI6 HEPN1_HUMAN hepatocellular carcinoma, down-regulated 1 14.0 cytoplasm (GO:0005737) large_intestine(1)|lung(1)|stomach(1) 3.0 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287) GGGTTGATGGCGAATCAGAGC 0.512 0 134.0 140.0 138.0 11 124789688.0 2018.0 4183.0 6201.0 SO:0001819 synonymous_variant BC148521 CCDS41729.1 11q24 2013-07-02 2011-02-11 ENSG00000221932 ENSG00000221932 641654.0 641654.0 34400.0 protein-coding gene gene with protein product """cancer susceptibility gene HEPN1""" 611641.0 """HEPACAM opposite strand 1""" 12971969, 23548416 Standard NM_001037558 NM_001037558 Approved uc001qbj.1 Q6WQI6 OTTHUMG00000165939 ENST00000408930.5:c.42C>T 11.__UNKNOWN__:g.124789688C>T __UNKNOWN__ CCDS41729.1 HEPN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387129.1 + ENST00000408930.5 Silent SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH ING3 54556 broad.mit.edu 37 7 120607662 120607662 + Silent SNP A A G TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr7:120607662A>G ENST00000315870.5 + 7.0 664 c.516A>G c.(514-516)ctA>ctG p.L172L ING3_ENST00000431467.1_Silent_p.L157L NM_019071.2 NP_061944.2 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 172.0 chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812) methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270) NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 12.0 all_neural(327;0.117) AAGCTCTTCTATCCACCCTTA 0.303 0 78.0 83.0 82.0 7 120607662.0 2203.0 4295.0 6498.0 SO:0001819 synonymous_variant AF074968 CCDS5778.1, CCDS35497.1 7q31 2013-01-28 ENSG00000071243 ENSG00000071243 54556.0 54556.0 """Zinc fingers, PHD-type""" 14587.0 protein-coding gene gene with protein product 607493.0 12080476 Standard NM_019071 NM_019071 Approved p47ING3, FLJ20089, Eaf4, MEAF4 uc003vjn.3 Q9NXR8 OTTHUMG00000141270 ENST00000315870.5:c.516A>G 7.__UNKNOWN__:g.120607662A>G A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081 __UNKNOWN__ CCDS5778.1 ING3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000280453.2 + ENST00000315870.5 Silent SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH SNHG14 0 broad.mit.edu 37 15 25467500 25467500 + RNA SNP G G C TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr15:25467500G>C ENST00000453082.2 + 0.0 753 SNORD115-28_ENST00000363931.1_RNA NR_003343.1 small nucleolar RNA host gene 14 (non-protein coding) GGTTGGGGTGGTGATGAGAAC 0.522 0 15q11.2 2014-01-17 2011-08-22 2011-08-22 ENSG00000224078 ENSG00000224078 """Long non-coding RNAs""" 37462.0 non-coding RNA RNA, long non-coding """non-protein coding RNA 214""" """UBE3A antisense RNA 1 (non-protein coding)""" UBE3A-AS1 23771028 Standard Approved NCRNA00214, UBE3A-AS OTTHUMG00000056661 ENST00000453082.2: 15.__UNKNOWN__:g.25467500G>C __UNKNOWN__ SNHG14-003 KNOWN non_canonical_TEC|basic antisense processed_transcript OTTHUMT00000126730.2 + ENST00000453082.2 RNA SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH PAK1 5058 broad.mit.edu 37 11 77090940 77090940 + Translation_Start_Site SNP G G A TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr11:77090940G>A ENST00000530617.1 - 3.0 601 c.290C>T c.(289-291)aCg>aTg p.T97M PAK1_ENST00000278568.4_Splice_Site_p.T97M|PAK1_ENST00000528203.1_De_novo_Start_InFrame|PAK1_ENST00000356341.3_Splice_Site_p.T97M Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 97.0 Autoregulatory region.|GTPase-binding. actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060) axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018) ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29.0 all_cancers(14;1.75e-18) AGGACTTACCGTAAACTCCCC 0.423 0 115.0 107.0 110.0 11 77090940.0 2200.0 4292.0 6492.0 SO:0001630 splice_region_variant U51120 CCDS8250.1, CCDS44687.1 11q13-q14 2008-06-17 2008-06-17 5058.0 5058.0 8590.0 protein-coding gene gene with protein product """STE20 homolog, yeast""" 602590.0 """p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)""" 8805275, 9533029 Standard NM_002576 NM_002576 Approved uc001oyg.4 Q13153 ENST00000530617.1:c.291+1C>T 11.__UNKNOWN__:g.77090940G>A O75561|Q13567|Q32M53|Q32M54|Q86W79 __UNKNOWN__ . . . . . . . . . . G 29.5 5.007838 0.93287 . . ENSG00000149269 ENST00000356341;ENST00000530617;ENST00000278568;ENST00000529248;ENST00000524847 D;D;D;D;D 0.88354 -2.37;-2.37;-2.37;-2.37;-2.37 5.32 5.32 0.75619 PAK-box/P21-Rho-binding (2); 0.091433 0.85682 D 0.000000 D 0.96140 0.8742 M 0.93150 3.385 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.79108 0.992;0.977;0.967 D 0.96877 0.9643 10 0.87932 D 0 . 19.3621 0.94445 0.0:0.0:1.0:0.0 . 97;97;97 B3KNX7;Q13153;Q13153-2 .;PAK1_HUMAN;. M 97 ENSP00000348696:T97M;ENSP00000433423:T97M;ENSP00000278568:T97M;ENSP00000433518:T97M;ENSP00000432477:T97M ENSP00000278568:T97M T - 2 0 PAK1 76768588 1.000000 0.71417 1.000000 0.80357 0.959000 0.62525 9.420000 0.97426 2.648000 0.89879 0.563000 0.77884 ACG PAK1-003 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000382082.2 Missense_Mutation - ENST00000530617.1 Splice_Site SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH NBEAL2 23218 broad.mit.edu 37 3 47041446 47041446 + Translation_Start_Site SNP A A T TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr3:47041446A>T ENST00000450053.3 + 27.0 4036 c.3857A>T c.(3856-3858)gAt>gTt p.D1286V NBEAL2_ENST00000383740.2_De_novo_Start_OutOfFrame|NBEAL2_ENST00000292309.5_Intron NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1286.0 blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) 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) 51.0 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) GGCTGGCAAGATGTGCTGACC 0.632 0 26.0 32.0 30.0 3 47041446.0 2183.0 4284.0 6467.0 SO:0001583 missense AB011112 CCDS46817.1 3p21.31 2014-09-17 ENSG00000160796 ENSG00000160796 23218.0 23218.0 """WD repeat domain containing""" 31928.0 protein-coding gene gene with protein product 614169.0 Standard XM_291064 NM_015175 Approved KIAA0540 uc003cqp.3 Q6ZNJ1 OTTHUMG00000156497 ENST00000450053.3:c.3857A>T 3.__UNKNOWN__:g.47041446A>T ENSP00000415034:p.Asp1286Val O60288|Q6P994|Q6UX91|Q8NAC9 __UNKNOWN__ CCDS46817.1 . . . . . . . . . . A 19.84 3.902208 0.72754 . . ENSG00000160796 ENST00000450053 T 0.62498 0.02 5.5 5.5 0.81552 . . . . . T 0.74966 0.3786 L 0.58101 1.795 0.80722 D 1 D 0.89917 1.0 D 0.74674 0.984 T 0.77670 -0.2501 9 0.87932 D 0 . 13.5512 0.61734 1.0:0.0:0.0:0.0 . 1286 Q6ZNJ1 NBEL2_HUMAN V 1286 ENSP00000415034:D1286V ENSP00000415034:D1286V D + 2 0 NBEAL2 47016450 1.000000 0.71417 0.995000 0.50966 0.623000 0.37688 7.293000 0.78740 2.085000 0.62840 0.459000 0.35465 GAT NBEAL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000344363.3 + ENST00000450053.3 Missense_Mutation SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH SREBF1 6720 broad.mit.edu 37 17 17720609 17720609 + Frame_Shift_Del DEL G G - TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr17:17720609delG ENST00000261646.5 - 8.0 1751 c.1567delC c.(1567-1569)catfs p.H523fs SREBF1_ENST00000355815.4_Frame_Shift_Del_p.H553fs|SREBF1_ENST00000338854.5_Frame_Shift_Del_p.H523fs|SREBF1_ENST00000395757.1_Frame_Shift_Del_p.H269fs NM_004176.4 NP_004167.3 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 523.0 aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810) cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14.0 CCAGGGCTATGGTAGACGCTG 0.677 0 17.0 19.0 18.0 17 17720609.0 2194.0 4289.0 6483.0 SO:0001589 frameshift_variant BC057388 CCDS11189.1, CCDS32583.1 17p11.2 2013-05-21 ENSG00000072310 ENSG00000072310 6720.0 6720.0 """Basic helix-loop-helix proteins""" 11289.0 protein-coding gene gene with protein product 184756.0 8402897, 7759101 Standard NM_004176 NM_001005291 Approved SREBP1, bHLHd1, SREBP-1c uc002grt.2 P36956 OTTHUMG00000059313 ENST00000261646.5:c.1567delC 17.__UNKNOWN__:g.17720609delG ENSP00000261646:p.His523fs B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9 __UNKNOWN__ CCDS11189.1 SREBF1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000131771.1 - ENST00000261646.5 Frame_Shift_Del DEL PCPG-TCGA-QR-A70R-Normal-SM-5EQGH Unknown 503543 bcgsc.ca 37 1 227621995 227621995 + RNA SNP T T C TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr1:227621995T>C CTD-2090I13.1 (3259 upstream) : RP11-275O4.3 (76301 downstream) ATGACGATGATGAAGTTCCAG 0.433 0 SO:0001628 intergenic_variant 1.__UNKNOWN__:g.227621995T>C __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH TBC1D16 125058 ucsc.edu 37 17 77984317 77984317 + Missense_Mutation SNP T T C TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq bf81a264-33bd-46bd-b03c-7c4537ee09e5 98d97958-f30c-438c-8f84-9d556fce7477 g.chr17:77984317T>C ENST00000310924.2 - 3.0 536 c.421A>G c.(421-423)Atc>Gtc p.I141V 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 16 141.0 Rab GTPase activator activity (GO:0005097) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3) 28.0 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) ACCACCAGGATGTCCTCATCT 0.706 Ovarian(14;397 562 4850 31922 49378) 0 22.0 22.0 22.0 17 77984317.0 2202.0 4296.0 6498.0 SO:0001583 missense AL157485 CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1 17q25.3 2013-07-10 ENSG00000167291 125058.0 125058.0 28356.0 protein-coding gene gene with protein product 23019362 Standard NM_019020 NM_019020 Approved MGC25062, FLJ20748 uc002jxj.4 Q8TBP0 ENST00000310924.2:c.421A>G 17.__UNKNOWN__:g.77984317T>C ENSP00000309794:p.Ile141Val B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7 __UNKNOWN__ CCDS11766.1 . . . . . . . . . . T 7.771 0.707500 0.15239 . . ENSG00000167291 ENST00000310924 T 0.09255 3.0 4.38 0.808 0.18719 . 0.934426 0.08934 N 0.872639 T 0.09158 0.0226 L 0.44542 1.39 0.80722 D 1 B 0.02656 0.0 B 0.01281 0.0 T 0.25916 -1.0118 10 0.12766 T 0.61 -13.3501 8.3816 0.32474 0.0:0.2382:0.0:0.7618 . 141 Q8TBP0 TBC16_HUMAN V 141 ENSP00000309794:I141V ENSP00000309794:I141V I - 1 0 TBC1D16 75598912 0.000000 0.05858 0.953000 0.39169 0.937000 0.57800 -0.471000 0.06631 -0.164000 0.10927 0.482000 0.46254 ATC TBC1D16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000437145.1 - ENST00000310924.2 Missense_Mutation SNP PCPG-TCGA-QR-A70R-Normal-SM-5EQGH ALPK1 80216 broad.mit.edu 37 4 113303581 113303581 + Missense_Mutation SNP T T A TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr4:113303581T>A ENST00000458497.1 + 4.0 428 c.149T>A c.(148-150)cTg>cAg p.L50Q ALPK1_ENST00000504176.2_Intron|ALPK1_ENST00000177648.9_Missense_Mutation_p.L50Q NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 50.0 ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53.0 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) TTAAGGACCCTGATCCAGGAG 0.478 0 73.0 67.0 69.0 4 113303581.0 2203.0 4300.0 6503.0 SO:0001583 missense AY044164 CCDS3697.1, CCDS58923.1 4q26 2008-02-05 ENSG00000073331 ENSG00000073331 80216.0 80216.0 20917.0 protein-coding gene gene with protein product """lymphocyte alpha-kinase""" 607347.0 10021370, 10819331 Standard NM_025144 NM_025144 Approved Lak, FLJ22670, KIAA1527 uc003ian.4 Q96QP1 OTTHUMG00000132911 ENST00000458497.1:c.149T>A 4.__UNKNOWN__:g.113303581T>A ENSP00000398048:p.Leu50Gln B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201 __UNKNOWN__ CCDS3697.1 . . . . . . . . . . T 22.8 4.331480 0.81690 . . ENSG00000073331 ENST00000458497;ENST00000177648;ENST00000309610 T;T 0.29142 1.58;1.58 5.63 5.63 0.86233 . 0.000000 0.64402 D 0.000001 T 0.58119 0.2100 M 0.77616 2.38 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 T 0.63355 -0.6656 10 0.87932 D 0 -10.9578 15.839 0.78831 0.0:0.0:0.0:1.0 . 50;50 Q96QP1;B3KUH8 ALPK1_HUMAN;. Q 50;50;25 ENSP00000398048:L50Q;ENSP00000177648:L50Q ENSP00000177648:L50Q L + 2 0 ALPK1 113523030 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.230000 0.78097 2.130000 0.65690 0.533000 0.62120 CTG ALPK1-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256421.2 + ENST00000458497.1 Missense_Mutation SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ POLR1A 25885 broad.mit.edu 37 2 86308796 86308796 + Missense_Mutation SNP T T A TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr2:86308796T>A ENST00000263857.6 - 8.0 1229 c.851A>T c.(850-852)gAt>gTt p.D284V POLR1A_ENST00000409681.1_Missense_Mutation_p.D284V O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 284.0 gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361) cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270) 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) 63.0 ACCATCATCATCCATTCCCGA 0.403 0 103.0 95.0 98.0 2 86308796.0 1857.0 4089.0 5946.0 SO:0001583 missense AK025568 CCDS42706.1 2p11.2 2013-01-21 ENSG00000068654 ENSG00000068654 25885.0 25885.0 """RNA polymerase subunits""" 17264.0 protein-coding gene gene with protein product 9236775 Standard NM_015425 NM_015425 Approved DKFZP586M0122, FLJ21915, RPO1-4, RPA1 uc002sqs.3 O95602 OTTHUMG00000153165 ENST00000263857.6:c.851A>T 2.__UNKNOWN__:g.86308796T>A ENSP00000263857:p.Asp284Val B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9 __UNKNOWN__ CCDS42706.1 . . . . . . . . . . T 7.344 0.621519 0.14193 . . ENSG00000068654 ENST00000263857;ENST00000409681 T;T 0.69040 -0.37;-0.37 5.18 2.76 0.32466 RNA polymerase Rpb1, domain 1 (1); 0.426269 0.27866 N 0.017531 T 0.53690 0.1812 L 0.39020 1.185 0.39819 D 0.972818 B;B 0.30146 0.27;0.064 B;B 0.33960 0.173;0.077 T 0.44847 -0.9301 10 0.32370 T 0.25 -8.8747 8.0118 0.30357 0.0:0.077:0.4663:0.4567 . 284;284 B9ZVN9;O95602 .;RPA1_HUMAN V 284 ENSP00000263857:D284V;ENSP00000386300:D284V ENSP00000263857:D284V D - 2 0 POLR1A 86162307 0.990000 0.36364 0.966000 0.40874 0.009000 0.06853 2.068000 0.41471 0.382000 0.24878 0.533000 0.62120 GAT POLR1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000329830.2 - ENST00000263857.6 Missense_Mutation SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ TFAM 7019 broad.mit.edu 37 10 60146034 60146034 + Silent SNP A A G TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr10:60146034A>G ENST00000487519.1 + 2.0 682 c.156A>G c.(154-156)aaA>aaG p.K52K TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Silent_p.K52K NM_001270782.1|NM_003201.2 NP_001257711.1|NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial 52.0 DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391) mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700) kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7.0 GTCCAAAGAAACCTGTAAGTT 0.363 0 154.0 154.0 154.0 10 60146034.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC018628 CCDS7253.1, CCDS59217.1 10q21 2010-09-24 ENSG00000108064 ENSG00000108064 7019.0 7019.0 11741.0 protein-coding gene gene with protein product 600438.0 TCF6, TCF6L2 7789991 Standard NM_003201 NM_003201 Approved uc001jkf.4 Q00059 OTTHUMG00000018270 ENST00000487519.1:c.156A>G 10.__UNKNOWN__:g.60146034A>G A8MRB2|A9QXC6|B5BU05|Q5U0C6 __UNKNOWN__ CCDS7253.1 . . . . . . . . . . A 4.255 0.046284 0.08243 . . ENSG00000108064 ENST00000395377 . . . 5.64 2.51 0.30379 . . . . . T 0.53318 0.1789 . . . 0.80722 D 1 . . . . . . T 0.40701 -0.9549 4 . . . . 5.3886 0.16231 0.5932:0.0:0.4068:0.0 . . . . A 34 . . T + 1 0 TFAM 59816040 1.000000 0.71417 0.995000 0.50966 0.240000 0.25518 0.429000 0.21412 0.179000 0.19938 0.533000 0.62120 ACC TFAM-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048146.1 + ENST00000487519.1 Silent SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ HTR6 3362 broad.mit.edu 37 1 20005098 20005098 + Silent SNP C C T TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr1:20005098C>T ENST00000289753.1 + 2.0 1220 c.753C>T c.(751-753)gaC>gaT p.D251D NM_000871.1 NP_000862.1 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled 251.0 brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268) cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993) endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13.0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246) AGTCTGCTGACAGCAGGCGTC 0.627 Esophageal Squamous(168;1879 2619 6848 21062) 0 64.0 62.0 62.0 1 20005098.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant L41147 CCDS197.1 1p36-p35 2012-08-08 2012-02-03 ENSG00000158748 ENSG00000158748 3362.0 3362.0 """5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only""" 5301.0 protein-coding gene gene with protein product 601109.0 """5-hydroxytryptamine (serotonin) receptor 6""" 8522988 Standard NM_000871 NM_000871 Approved 5-HT6, 5-HT6R uc001bcl.3 P50406 OTTHUMG00000002713 ENST00000289753.1:c.753C>T 1.__UNKNOWN__:g.20005098C>T Q13640|Q5TGZ1 __UNKNOWN__ CCDS197.1 HTR6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007704.1 + ENST00000289753.1 Silent SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ FMN1 342184 broad.mit.edu 37 15 33358928 33358928 + Silent SNP T T C TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr15:33358928T>C ENST00000559047.1 - 3.0 2043 FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Silent_p.P386P|FMN1_ENST00000334528.9_Silent_p.P386P|FMN1_ENST00000559150.1_Intron Q68DA7 FMN1_HUMAN formin 1 actin nucleation (GO:0045010) actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29.0 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) CCTGGGTTTGTGGTACTCCAG 0.592 0 70.0 72.0 71.0 15 33358928.0 2031.0 4191.0 6222.0 SO:0001627 intron_variant AH002864 CCDS45209.1, CCDS61581.1, CCDS61582.1 15q13.3 2013-06-13 2005-01-20 2005-01-22 ENSG00000248905 ENSG00000248905 342184.0 342184.0 3768.0 protein-coding gene gene with protein product """limb deformity protein""" 136535.0 """formin (limb deformity)""" LD, FMN 1673046 Standard NM_001103184 NM_001277313 Approved DKFZP686C2281, FLJ45135, MGC125288, MGC125289 uc031qrh.1 Q68DA7 OTTHUMG00000172201 ENST00000559047.1:c.2044-1653A>G 15.__UNKNOWN__:g.33358928T>C Q3B7I6|Q3ZAR4|Q6ZSY1 __UNKNOWN__ FMN1-005 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000417414.1 - ENST00000559047.1 Intron SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ AWAT1 158833 broad.mit.edu 37 X 69457054 69457054 + Missense_Mutation SNP G G C TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chrX:69457054G>C ENST00000374521.3 + 4.0 457 c.416G>C c.(415-417)tGg>tCg p.W139S AWAT1_ENST00000480702.1_3'UTR NM_001013579.2 NP_001013597.1 Q58HT5 AWAT1_HUMAN acyl-CoA wax alcohol acyltransferase 1 139.0 lipid metabolic process (GO:0006629) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196) breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1) 15.0 ACGCTGTCCTGGTTCTTCAAG 0.537 0 72.0 57.0 62.0 X 69457054.0 2203.0 4300.0 6503.0 SO:0001583 missense BC039181 CCDS35321.1 Xq13.1 2010-01-25 2009-02-23 2009-02-23 ENSG00000204195 ENSG00000204195 158833.0 158833.0 23252.0 protein-coding gene gene with protein product 300924.0 """diacylglycerol O-acyltransferase 2-like 3""" DGAT2L3 14970677, 15671038 Standard NM_001013579 NM_001013579 Approved uc004dxy.3 Q58HT5 OTTHUMG00000021773 ENST00000374521.3:c.416G>C X.__UNKNOWN__:g.69457054G>C ENSP00000363645:p.Trp139Ser Q5JT21|Q6IEE4 __UNKNOWN__ CCDS35321.1 . . . . . . . . . . G 11.51 1.660230 0.29515 . . ENSG00000204195 ENST00000374521 T 0.12361 2.69 4.5 4.5 0.54988 . 0.093223 0.44902 D 0.000414 T 0.11965 0.0291 N 0.03209 -0.39 0.52501 D 0.999953 P 0.47841 0.901 P 0.55055 0.767 T 0.42916 -0.9423 10 0.19590 T 0.45 -5.9742 14.9796 0.71301 0.0:0.0:1.0:0.0 . 139 Q58HT5 AWAT1_HUMAN S 139 ENSP00000363645:W139S ENSP00000363645:W139S W + 2 0 AWAT1 69373779 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 3.481000 0.53179 2.086000 0.62901 0.456000 0.33151 TGG AWAT1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057066.3 + ENST00000374521.3 Missense_Mutation SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ CEBPZ 10153 broad.mit.edu 37 2 37455268 37455268 + Silent SNP A A G TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr2:37455268A>G ENST00000234170.5 - 2.0 1213 c.1068T>C c.(1066-1068)gaT>gaC p.D356D NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 356.0 positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28.0 all_hematologic(82;0.21) TTACTAATGTATCATGACTTA 0.403 0 81.0 88.0 85.0 2 37455268.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant M37197 CCDS1787.1 2p22.3 2008-09-03 2008-09-03 ENSG00000115816 ENSG00000115816 10153.0 10153.0 24218.0 protein-coding gene gene with protein product 612828.0 2247079, 12534345 Standard NM_005760 NM_005760 Approved CBF2, CTF2 uc002rpz.3 Q03701 OTTHUMG00000100960 ENST00000234170.5:c.1068T>C 2.__UNKNOWN__:g.37455268A>G Q8NE75 __UNKNOWN__ CCDS1787.1 CEBPZ-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000218569.2 - ENST00000234170.5 Silent SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ GANAB 23193 broad.mit.edu 37 11 62400986 62400986 + Splice_Site SNP C C G TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr11:62400986C>G ENST00000534422.1 - 0.0 470 GANAB_ENST00000540933.1_Splice_Site_p.S90S|GANAB_ENST00000534779.1_Splice_Site_p.R95S|GANAB_ENST00000356638.3_Splice_Site_p.S187S|GANAB_ENST00000346178.4_Splice_Site_p.R209S Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822) central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35.0 Miglitol(DB00491) TTGATCCTTGCCTGGAAGGTA 0.607 Melanoma(23;1005 1074 15747 18937) 0 78.0 73.0 75.0 11 62400986.0 2202.0 4299.0 6501.0 SO:0001623 5_prime_UTR_variant AF144074 CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1 11q12.3 2012-10-02 ENSG00000089597 ENSG00000089597 23193.0 23193.0 3.2.1.20 4138.0 protein-coding gene gene with protein product 104160.0 10764838, 6342981 Standard NM_198334 NM_198335 Approved GluII, G2AN, KIAA0088 uc001nua.4 Q14697 OTTHUMG00000167696 ENST00000534422.1:c.-232G>C 11.__UNKNOWN__:g.62400986C>G A6NC20|Q8WTS9|Q9P0X0 __UNKNOWN__ . . . . . . . . . . C 12.44 1.937973 0.34189 . . ENSG00000089597 ENST00000346178;ENST00000534779;ENST00000525994 D;D;T 0.87966 -2.26;-2.32;1.61 5.33 5.33 0.75918 . 0.662303 0.16092 N 0.230028 T 0.77452 0.4132 . . . 0.80722 D 1 B;B 0.09022 0.002;0.002 B;B 0.09377 0.002;0.004 T 0.69335 -0.5172 9 0.10377 T 0.69 . 14.4067 0.67088 0.0:1.0:0.0:0.0 . 95;209 E9PKU7;Q14697-2 .;. S 209;95;95 ENSP00000340466:R209S;ENSP00000435306:R95S;ENSP00000434805:R95S ENSP00000340466:R209S R - 3 2 GANAB 62157562 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 3.347000 0.52200 2.771000 0.95319 0.563000 0.77884 AGG GANAB-008 KNOWN basic|exp_conf processed_transcript protein_coding OTTHUMT00000395693.3 - ENST00000534422.1 5'UTR SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ TLE1 7088 broad.mit.edu 37 9 84205889 84205889 + Silent SNP A A G TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr9:84205889A>G ENST00000376499.3 - 16.0 2724 c.1660T>C c.(1660-1662)Ttg>Ctg p.L554L NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 554.0 multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29.0 CAAATGGACAAAGTACTGGCT 0.547 NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870) 0 75.0 76.0 76.0 9 84205889.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS6661.1 9q21.32 2013-01-10 2001-11-28 ENSG00000196781 ENSG00000196781 7088.0 7088.0 """WD repeat domain containing""" 11837.0 protein-coding gene gene with protein product """enhancer of split groucho 1""" 600189.0 """transducin-like enhancer of split 1, homolog of Drosophila E(sp1)""" 8365415, 8808280 Standard NM_005077 NM_005077 Approved ESG1, GRG1, ESG uc004aly.3 Q04724 OTTHUMG00000021008 ENST00000376499.3:c.1660T>C 9.__UNKNOWN__:g.84205889A>G A8K495|Q5T3G4|Q969V9 __UNKNOWN__ CCDS6661.1 TLE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055407.1 - ENST00000376499.3 Silent SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ SLC29A3 55315 broad.mit.edu 37 10 73111447 73111447 + Missense_Mutation SNP G G A TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr10:73111447G>A ENST00000373189.5 + 4.0 564 c.512G>A c.(511-513)tGc>tAc p.C171Y SLC29A3_ENST00000469204.1_3'UTR NM_001174098.1|NM_018344.5 NP_001167569.1|NP_060814.4 Q9BZD2 S29A3_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 3 171.0 transmembrane transport (GO:0055085) endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) nucleoside transmembrane transporter activity (GO:0005337) endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15.0 ACCATTGTCTGCATGGTGATC 0.547 Esophageal Squamous(200;1319 2142 18949 31248 39672) 0 182.0 134.0 150.0 10 73111447.0 2203.0 4300.0 6503.0 SO:0001583 missense AF326987 CCDS7310.1 10q22.2 2013-07-17 2013-07-17 ENSG00000198246 ENSG00000198246 55315.0 55315.0 """Solute carriers""" 23096.0 protein-coding gene gene with protein product 612373.0 """solute carrier family 29 (nucleoside transporters), member 3""" 11396612 Standard NM_018344 NM_018344 Approved ENT3, FLJ11160 uc001jrr.4 Q9BZD2 OTTHUMG00000018424 ENST00000373189.5:c.512G>A 10.__UNKNOWN__:g.73111447G>A ENSP00000362285:p.Cys171Tyr B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9 __UNKNOWN__ CCDS7310.1 . . . . . . . . . . G 21.1 4.093047 0.76756 . . ENSG00000198246 ENST00000373189 T 0.57107 0.42 5.83 5.83 0.93111 . 0.102753 0.64402 D 0.000002 T 0.74374 0.3708 M 0.80028 2.48 0.44136 D 0.996922 D 0.58970 0.984 D 0.67900 0.954 T 0.76340 -0.2995 9 0.66056 D 0.02 -32.3077 18.2887 0.90122 0.0:0.0:1.0:0.0 . 171 Q9BZD2 S29A3_HUMAN Y 171 ENSP00000362285:C171Y ENSP00000362285:C171Y C + 2 0 SLC29A3 72781453 1.000000 0.71417 0.987000 0.45799 0.645000 0.38454 7.560000 0.82277 2.764000 0.94973 0.555000 0.69702 TGC SLC29A3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048544.1 + ENST00000373189.5 Missense_Mutation SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ RIN1 9610 broad.mit.edu 37 11 66102456 66102456 + Missense_Mutation SNP C C T TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr11:66102456C>T ENST00000530056.1 - 5.0 713 c.499G>A c.(499-501)Ggg>Agg p.G167R RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000311320.4_Missense_Mutation_p.G272R|RIN1_ENST00000424433.2_Missense_Mutation_p.G167R Q13671 RIN1_HUMAN Ras and Rab interactor 1 272.0 associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) GTPase activator activity (GO:0005096) breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14.0 GGGACTGCCCCTGGCAGCACG 0.667 0 C ARG/GLY 0,4396 0,0,2198 23.0 22.0 22.0 814 2.3 0.7 11 22.0 8,8572 0,8,4282 no missense RIN1 NM_004292.2 125 0,8,6480 TT,TC,CC 0.0932,0.0,0.0617 benign 272/784 66102456.0 8,12968 2198.0 4290.0 6488.0 SO:0001583 missense L36463 CCDS31614.1 11q13.2 2005-09-18 ENSG00000174791 9610.0 9610.0 18749.0 protein-coding gene gene with protein product 605965.0 9144171, 1849280 Standard NM_004292 NM_004292 Approved uc001ohn.1 Q13671 ENST00000530056.1:c.499G>A 11.__UNKNOWN__:g.66102456C>T ENSP00000432798:p.Gly167Arg O15010|Q00427|Q96CC8 __UNKNOWN__ . . . . . . . . . . C 8.489 0.861481 0.17178 0.0 9.32E-4 ENSG00000174791 ENST00000311320;ENST00000424433;ENST00000530056 T;T;T 0.13420 3.11;2.98;2.59 4.26 2.26 0.28386 . 0.917458 0.09005 N 0.862443 T 0.10809 0.0264 N 0.22421 0.69 0.09310 N 1 B;B 0.22541 0.071;0.005 B;B 0.22386 0.039;0.005 T 0.36065 -0.9763 10 0.41790 T 0.15 -10.8817 10.5604 0.45142 0.0:0.6178:0.3822:0.0 . 167;272 E9PNR2;Q13671 .;RIN1_HUMAN R 272;167;167 ENSP00000310406:G272R;ENSP00000400560:G167R;ENSP00000432798:G167R ENSP00000310406:G272R G - 1 0 RIN1 65859032 0.002000 0.14202 0.663000 0.29738 0.318000 0.28184 0.335000 0.19806 0.326000 0.23384 0.462000 0.41574 GGG RIN1-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000392983.1 - ENST00000530056.1 Missense_Mutation SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ CSPP1 79848 broad.mit.edu 37 8 68084697 68084697 + Missense_Mutation SNP C C T TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr8:68084697C>T ENST00000262210.5 + 23.0 2891 c.2860C>T c.(2860-2862)Cgg>Tgg p.R954W CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.R609W NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 989.0 positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467) centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49.0 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) GGCTAGACATCGGTTGCAAGC 0.388 0 88.0 90.0 89.0 8 68084697.0 1847.0 4094.0 5941.0 SO:0001583 missense AJ583433 CCDS43744.1 8q13.2 2014-02-24 ENSG00000104218 ENSG00000104218 79848.0 79848.0 26193.0 protein-coding gene gene with protein product 611654.0 15580290, 24360807 Standard NM_024790 NM_024790 Approved FLJ22490, CSPP, JBTS21 uc003xxj.3 Q1MSJ5 OTTHUMG00000164564 ENST00000262210.5:c.2860C>T 8.__UNKNOWN__:g.68084697C>T ENSP00000262210:p.Arg954Trp A6ND63|Q70F00|Q8TBC1 __UNKNOWN__ CCDS43744.1 . . . . . . . . . . C 20.8 4.054960 0.75960 . . ENSG00000104218 ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668 T;T;T 0.40476 1.03;1.09;1.09 5.81 3.9 0.45041 . 0.078311 0.51477 D 0.000085 T 0.59487 0.2197 M 0.66939 2.045 0.35050 D 0.760524 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.91635 0.999;0.992;0.997;0.997 T 0.71371 -0.4613 10 0.87932 D 0 -12.6442 10.2613 0.43427 0.2717:0.5969:0.1314:0.0 . 112;609;954;989 Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5 .;.;.;CSPP1_HUMAN W 954;989;609;609 ENSP00000262210:R954W;ENSP00000415782:R609W;ENSP00000430092:R609W ENSP00000262210:R954W R + 1 2 CSPP1 68247251 1.000000 0.71417 0.997000 0.53966 0.997000 0.91878 2.660000 0.46749 1.440000 0.47531 0.655000 0.94253 CGG CSPP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000379254.1 + ENST00000262210.5 Missense_Mutation SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ HIPK1 204851 broad.mit.edu 37 1 114514513 114514513 + Silent SNP C C T TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr1:114514513C>T ENST00000369558.1 + 15.0 3313 c.3081C>T c.(3079-3081)acC>acT p.T1027T HIPK1_ENST00000406344.1_Silent_p.T633T|HIPK1_ENST00000369559.4_Silent_p.T1027T|HIPK1_ENST00000369554.2_Silent_p.T982T|HIPK1_ENST00000369553.1_Silent_p.T633T|HIPK1_ENST00000369555.2_Silent_p.T982T|HIPK1_ENST00000426820.2_Silent_p.T1027T|HIPK1_ENST00000369561.4_Silent_p.T993T|HIPK1_ENST00000340480.4_Silent_p.T653T Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 1027.0 Interaction with TP53. anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39.0 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCTGTATCACCCCCACAGGGT 0.517 0 135.0 113.0 121.0 1 114514513.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB089957 CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1 1p13.1 2008-02-05 ENSG00000163349 ENSG00000163349 204851.0 204851.0 19006.0 protein-coding gene gene with protein product 608003.0 Standard NM_198268 NM_198268 Approved KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548 uc001eem.3 Q86Z02 OTTHUMG00000011983 ENST00000369558.1:c.3081C>T 1.__UNKNOWN__:g.114514513C>T A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1 __UNKNOWN__ CCDS867.1 . . . . . . . . . . C 5.004 0.186378 0.09495 . . ENSG00000163349 ENST00000361587 . . . 5.89 0.746 0.18365 . . . . . T 0.34978 0.0916 . . . 0.80722 D 1 . . . . . . T 0.20240 -1.0281 4 . . . . 4.7972 0.13277 0.2003:0.4609:0.0:0.3388 . . . . S 308 . . P + 1 0 HIPK1 114316036 0.103000 0.21917 0.999000 0.59377 0.903000 0.53119 -0.889000 0.04144 0.110000 0.17919 -0.251000 0.11542 CCC HIPK1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000033127.1 + ENST00000369558.1 Silent SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ MUC16 94025 broad.mit.edu 37 19 9009599 9009599 + Silent SNP G G A TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr19:9009599G>A ENST00000397910.4 - 39.0 39330 c.39127C>T c.(39127-39129)Ctg>Ttg p.L13043L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13045.0 SEA 7. {ECO:0000255|PROSITE- ProRule:PRU00188}. cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982) 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) 590.0 AGACCCTGCAGGACCCTCTCT 0.552 0 188.0 157.0 167.0 19 9009599.0 2008.0 4171.0 6179.0 SO:0001819 synonymous_variant AF414442 CCDS54212.1 19p13.2 2008-02-05 2006-03-14 ENSG00000181143 94025.0 94025.0 """Mucins""" 15582.0 protein-coding gene gene with protein product 606154.0 11369781 Standard NM_024690 XM_006722941 Approved CA125, FLJ14303 uc002mkp.3 Q8WXI7 ENST00000397910.4:c.39127C>T 19.__UNKNOWN__:g.9009599G>A Q6ZQW5|Q96RK2 __UNKNOWN__ CCDS54212.1 MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402806.1 - ENST00000397910.4 Silent SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ FOLH1B 219595 broad.mit.edu 37 11 89392730 89392730 + RNA SNP G G A TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr11:89392730G>A ENST00000532352.1 + 0.0 553 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48.0 GCTGGCAGGGGCCAAAGGAGT 0.438 0 AF261715 11q14.3 2014-03-18 ENSG00000134612 ENSG00000134612 219595.0 219595.0 13636.0 protein-coding gene gene with protein product """prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III""" 609020.0 """folate hydrolase 2""" FOLH2, FOLHP 9838072, 14716746 Standard NM_153696 NM_153696 Approved PSMAL, GCPIII uc001pda.3 Q9HBA9 OTTHUMG00000167376 ENST00000532352.1: 11.__UNKNOWN__:g.89392730G>A __UNKNOWN__ FOLH1B-004 KNOWN basic processed_transcript pseudogene OTTHUMT00000395421.1 + ENST00000532352.1 RNA SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ DIP2A 23181 broad.mit.edu 37 21 47918530 47918530 + Missense_Mutation SNP C C T TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr21:47918530C>T ENST00000400274.1 + 5.0 672 c.439C>T c.(439-441)Cgg>Tgg p.R147W DIP2A_ENST00000466639.1_Missense_Mutation_p.R147W|DIP2A_ENST00000427143.2_Missense_Mutation_p.R83W|DIP2A_ENST00000417564.2_Missense_Mutation_p.R147W|DIP2A_ENST00000435722.3_Missense_Mutation_p.R147W|DIP2A_ENST00000318711.7_Missense_Mutation_p.R147W|DIP2A_ENST00000457905.3_Missense_Mutation_p.R147W Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 147.0 multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981) cell surface (GO:0009986)|nucleus (GO:0005634) catalytic activity (GO:0003824) p.R147R(2)|p.R83R(1) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43.0 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) GGGCTCTTTACGGCGACCCGG 0.587 3 Substitution - coding silent(3) urinary_tract(3) C TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG 0,4262 0,0,2131 136.0 152.0 147.0 247,439,439,439,439,439,439 3.6 1.0 21 147.0 1,8471 0,1,4235 no missense,missense,missense,missense,missense,missense,missense DIP2A NM_001146114.1,NM_001146115.1,NM_001146116.1,NM_015151.3,NM_206889.2,NM_206890.2,NM_206891.2 101,101,101,101,101,101,101 0,1,6366 TT,TC,CC 0.0118,0.0,0.0079 probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging 83/1111,147/799,147/1568,147/1572,147/890,147/842,147/813 47918530.0 1,12733 2131.0 4236.0 6367.0 SO:0001583 missense AF490768 CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1 21q22.3 2010-08-20 2006-01-13 2006-01-13 ENSG00000160305 ENSG00000160305 23181.0 23181.0 17217.0 protein-coding gene gene with protein product 607711.0 """chromosome 21 open reading frame 106""" C21orf106 Standard NM_015151 NM_015151 Approved Dip2, KIAA0184 uc002zjo.2 Q14689 OTTHUMG00000090717 ENST00000400274.1:c.439C>T 21.__UNKNOWN__:g.47918530C>T ENSP00000383133:p.Arg147Trp A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9 __UNKNOWN__ CCDS54490.1 . . . . . . . . . . C 17.72 3.459437 0.63401 0.0 1.18E-4 ENSG00000160305 ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564 T;T;T;T;T;T;T 0.25912 1.84;1.78;1.84;1.82;1.77;1.83;1.84 5.4 3.6 0.41247 . 0.144354 0.47455 D 0.000239 T 0.30070 0.0753 M 0.71581 2.175 0.54753 D 0.999985 B;B;B;B;B;B 0.15141 0.004;0.006;0.007;0.002;0.012;0.005 B;B;B;B;B;B 0.20767 0.001;0.006;0.005;0.001;0.031;0.013 T 0.10382 -1.0632 10 0.72032 D 0.01 -7.8351 11.8016 0.52130 0.0:0.8722:0.0:0.1278 . 147;83;147;147;147;147 E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2 .;.;.;DIP2A_HUMAN;.;. W 147;83;147;147;147;147;147;147 ENSP00000383133:R147W;ENSP00000400528:R83W;ENSP00000323633:R147W;ENSP00000393434:R147W;ENSP00000430249:R147W;ENSP00000415089:R147W;ENSP00000392066:R147W ENSP00000323633:R147W R + 1 2 DIP2A 46742958 1.000000 0.71417 0.998000 0.56505 0.989000 0.77384 3.875000 0.56108 0.653000 0.30826 0.555000 0.69702 CGG DIP2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207431.1 + ENST00000400274.1 Missense_Mutation SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ POC1B-GALNT4 0 broad.mit.edu 37 12 89917393 89917393 + Missense_Mutation SNP C C T TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr12:89917393C>T ENST00000548729.1 - 3.0 1227 c.925G>A c.(925-927)Gga>Aga p.G309R POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000549035.1_Intron|GALNT4_ENST00000413530.1_Missense_Mutation_p.G140R|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549504.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.G312R|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000313546.3_Intron NM_001199781.1|NM_001199782.1 NP_001186710.1|NP_001186711.1 POC1B-GALNT4 readthrough GCAAACAGTCCTCCAGCCATG 0.468 0 130.0 130.0 130.0 12 89917393.0 1967.0 4156.0 6123.0 SO:0001583 missense CCDS55860.1 12q21.33 2011-09-28 ENSG00000259075 ENSG00000259075 100528030.0 100528030.0 42957.0 other readthrough Standard NM_001199782 Approved OTTHUMG00000171333 ENST00000548729.1:c.925G>A 12.__UNKNOWN__:g.89917393C>T ENSP00000447852:p.Gly309Arg __UNKNOWN__ CCDS55860.1 . . . . . . . . . . C 27.0 4.788616 0.90367 . . ENSG00000259075;ENSG00000259075;ENSG00000257594 ENST00000548729;ENST00000413530;ENST00000529983 T;D;T 0.90844 0.12;-2.74;0.12 5.85 5.85 0.93711 Glycosyl transferase, family 2 (1); . . . . D 0.97040 0.9033 H 0.95611 3.695 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 D 0.97679 1.0171 9 0.87932 D 0 . 19.1613 0.93533 0.0:1.0:0.0:0.0 . 309;312 F8VUJ3;Q8N4A0 .;GALT4_HUMAN R 309;140;312 ENSP00000447852:G309R;ENSP00000389686:G140R;ENSP00000436604:G312R ENSP00000436604:G312R G - 1 0 GALNT4;RP11-1109F11.4 88441524 1.000000 0.71417 0.997000 0.53966 0.992000 0.81027 7.760000 0.85248 2.768000 0.95171 0.655000 0.94253 GGA POC1B-GALNT4-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS protein_coding protein_coding OTTHUMT00000413016.1 - ENST00000548729.1 Missense_Mutation SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ C1S 716 broad.mit.edu 37 12 7172601 7172601 + Missense_Mutation SNP G G A TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr12:7172601G>A ENST00000402681.3 + 5.0 861 c.214G>A c.(214-216)Gtt>Att p.V72I C1S_ENST00000328916.3_Missense_Mutation_p.V239I|C1S_ENST00000406697.1_Missense_Mutation_p.V239I|C1S_ENST00000360817.5_Missense_Mutation_p.V239I P09871 C1S_HUMAN complement component 1, s subcomponent 239.0 CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}. complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252) p.V239F(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33.0 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TGACAGTTTAGTTGTGCGTGA 0.453 GBM(156;750 1943 12971 24779 31015) 1 Substitution - Missense(1) endometrium(1) 100.0 100.0 100.0 12 7172601.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS31735.1 12p13 2014-09-17 ENSG00000182326 ENSG00000182326 716.0 716.0 3.4.21.42 """Complement system""" 1247.0 protein-coding gene gene with protein product 120580.0 Standard NM_001734 NM_201442 Approved uc001qsl.3 P09871 OTTHUMG00000150305 ENST00000402681.3:c.214G>A 12.__UNKNOWN__:g.7172601G>A ENSP00000384171:p.Val72Ile D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14 __UNKNOWN__ . . . . . . . . . . G 12.64 1.998065 0.35226 . . ENSG00000182326 ENST00000406697;ENST00000328916;ENST00000360817;ENST00000402681;ENST00000542978 T;T;T;T;T 0.17854 2.25;2.25;2.25;2.25;2.25 5.83 -4.78 0.03209 CUB (5); 2.071210 0.02388 N 0.079421 T 0.12433 0.0302 N 0.25332 0.735 0.09310 N 1 B 0.06786 0.001 B 0.09377 0.004 T 0.36383 -0.9750 10 0.45353 T 0.12 . 8.9678 0.35887 0.6102:0.2241:0.1657:0.0 . 239 P09871 C1S_HUMAN I 239;239;239;72;72 ENSP00000385035:V239I;ENSP00000328173:V239I;ENSP00000354057:V239I;ENSP00000384171:V72I;ENSP00000442298:V72I ENSP00000328173:V239I V + 1 0 C1S 7042862 0.000000 0.05858 0.112000 0.21494 0.781000 0.44180 -0.770000 0.04705 -0.643000 0.05473 0.655000 0.94253 GTT C1S-017 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000401825.1 + ENST00000402681.3 Missense_Mutation SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ TRRAP 8295 broad.mit.edu 37 7 98533274 98533274 + Missense_Mutation SNP G G A rs140553884 by1000genomes TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr7:98533274G>A ENST00000446306.3 + 27.0 4145 c.4084G>A c.(4084-4086)Gta>Ata p.V1362I TRRAP_ENST00000355540.3_Missense_Mutation_p.V1363I|TRRAP_ENST00000359863.4_Missense_Mutation_p.V1363I Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1363.0 chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276) phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712) 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) 176.0 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) TCCGTCACTCGTACCTTTACG 0.378 G 3.0 0.0014 0.01 2184.0 1.0 , , 0.0003 0.0014 1.0 LOWCOV,EXOME 0.0004 SNP 0 G ILE/VAL 0,4406 0,0,2203 83.0 76.0 79.0 4087 6.2 0.1 7 dbSNP_134 79.0 1,8599 1.2+/-3.3 0,1,4299 no missense TRRAP NM_003496.3 29 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 benign 1363/3831 98533274.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AF076974 CCDS5659.1, CCDS59066.1 7q21.2-q22.1 2010-06-22 ENSG00000196367 ENSG00000196367 8295.0 8295.0 12347.0 protein-coding gene gene with protein product 603015.0 9708738, 9885574 Standard NM_003496 NM_003496 Approved TR-AP, PAF400, Tra1 uc003upp.3 Q9Y4A5 OTTHUMG00000150403 ENST00000446306.3:c.4084G>A 7.__UNKNOWN__:g.98533274G>A ENSP00000403708:p.Val1362Ile A4D265|O75218|Q9Y631|Q9Y6H4 __UNKNOWN__ 3 0.0013736263736263737 3 0.006097560975609756 0 0.0 0 0.0 0 0.0 G 9.614 1.131952 0.21041 0.0 1.16E-4 ENSG00000196367 ENST00000359863;ENST00000355540;ENST00000446306 T;T 0.03301 3.98;3.98 6.17 6.17 0.99709 Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.01489 0.0048 N 0.03983 -0.305 0.80722 D 1 B;B;P 0.35050 0.371;0.177;0.482 B;B;B 0.23275 0.045;0.009;0.038 T 0.66312 -0.5955 10 0.17369 T 0.5 . 20.8794 0.99867 0.0:0.0:1.0:0.0 . 1363;1077;1363 Q9Y4A5-2;Q59FH1;Q9Y4A5 .;.;TRRAP_HUMAN I 1363;1363;1361 ENSP00000352925:V1363I;ENSP00000347733:V1363I ENSP00000347733:V1363I V + 1 0 TRRAP 98371210 1.000000 0.71417 0.132000 0.22025 0.094000 0.18550 9.619000 0.98369 2.941000 0.99782 0.655000 0.94253 GTA TRRAP-004 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000317981.3 + ENST00000446306.3 Missense_Mutation SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ LRP6 4040 broad.mit.edu 37 12 12301949 12301949 + Missense_Mutation SNP C C G TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr12:12301949C>G ENST00000543091.1 - 14.0 3166 c.3133G>C c.(3133-3135)Ggg>Cgg p.G1045R LRP6_ENST00000261349.4_Missense_Mutation_p.G1045R O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 1045.0 Beta-propeller 4. anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244) cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202) apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) 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) 85.0 Prostate(47;0.0865) ACTGATCTCCCATCTAATCTT 0.463 0 264.0 246.0 252.0 12 12301949.0 2203.0 4300.0 6503.0 SO:0001583 missense AF074264 CCDS8647.1 12p13.2 2013-05-29 ENSG00000070018 ENSG00000070018 4040.0 4040.0 """Low density lipoprotein receptors""" 6698.0 protein-coding gene gene with protein product 603507.0 9704021 Standard NM_002336 Approved ADCAD2 uc001rah.4 O75581 OTTHUMG00000168540 ENST00000543091.1:c.3133G>C 12.__UNKNOWN__:g.12301949C>G ENSP00000442472:p.Gly1045Arg Q17RZ2 __UNKNOWN__ . . . . . . . . . . C 31 5.097020 0.94197 . . ENSG00000070018 ENST00000261349;ENST00000543091 D;D 0.93307 -3.2;-3.2 5.71 5.71 0.89125 Six-bladed beta-propeller, TolB-like (1); 0.000000 0.64402 U 0.000011 D 0.96941 0.9001 M 0.80332 2.49 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.969 D 0.96911 0.9667 10 0.66056 D 0.02 . 19.8604 0.96781 0.0:1.0:0.0:0.0 . 1045;1045 F5H7J9;O75581 .;LRP6_HUMAN R 1045 ENSP00000261349:G1045R;ENSP00000442472:G1045R ENSP00000261349:G1045R G - 1 0 LRP6 12193216 1.000000 0.71417 0.998000 0.56505 0.996000 0.88848 7.487000 0.81328 2.699000 0.92147 0.650000 0.86243 GGG LRP6-004 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000400140.1 - ENST00000543091.1 Missense_Mutation SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ ANKK1 255239 broad.mit.edu 37 11 113266945 113266945 + Splice_Site SNP G G T TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr11:113266945G>T ENST00000303941.3 + 5.0 932 c.e5+1 NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29.0 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) TGCTTTCTAGGTGCTTATCCA 0.612 0 76.0 80.0 79.0 11 113266945.0 1938.0 4118.0 6056.0 SO:0001630 splice_region_variant AJ541797 CCDS44734.1 11q23.2 2013-01-10 ENSG00000170209 ENSG00000170209 255239.0 255239.0 """Ankyrin repeat domain containing""" 21027.0 protein-coding gene gene with protein product 608774.0 15146457 Standard NM_178510 NM_178510 Approved X-kinase uc001pny.3 Q8NFD2 OTTHUMG00000167715 ENST00000303941.3:c.838+1G>T 11.__UNKNOWN__:g.113266945G>T __UNKNOWN__ CCDS44734.1 . . . . . . . . . . G 15.42 2.826964 0.50739 . . ENSG00000170209 ENST00000303941 . . . 4.44 4.44 0.53790 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 16.2135 0.82186 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . ANKK1 112772155 1.000000 0.71417 0.449000 0.26957 0.025000 0.11179 9.278000 0.95766 2.285000 0.76669 0.462000 0.41574 . ANKK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395830.1 Intron + ENST00000303941.3 Splice_Site SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ MST1 4485 broad.mit.edu 37 3 49722300 49722300 + Missense_Mutation SNP C C A TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr3:49722300C>A ENST00000449682.2 - 15.0 2001 c.1640G>T c.(1639-1641)gGc>gTc p.G547V AC099668.5_ENST00000563780.1_RNA NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 533.0 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. embryo implantation (GO:0007566)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283) extracellular vesicular exosome (GO:0070062) serine-type endopeptidase activity (GO:0004252) 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) 41.0 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TACCTCATAGCCCGTGAGAGG 0.582 GBM(110;181 1524 8005 22865 46297) 0 40.0 41.0 41.0 3 49722300.0 2201.0 4293.0 6494.0 SO:0001583 missense M74178 CCDS33757.2 3p21 2008-09-05 ENSG00000173531 ENSG00000173531 4485.0 4485.0 7380.0 protein-coding gene gene with protein product """hepatocyte growth factor-like protein homolog""" 142408.0 D3F15S2, HGFL, DNF15S2 2902784, 8393443 Standard NM_020998 NM_020998 Approved MSP, NF15S2 uc003cxg.3 P26927 OTTHUMG00000155918 ENST00000449682.2:c.1640G>T 3.__UNKNOWN__:g.49722300C>A ENSP00000414287:p.Gly547Val A6NLA3|A8MSX3|Q13350|Q14870|Q6GTN4 __UNKNOWN__ CCDS33757.2 . . . . . . . . . . C 21.2 4.119922 0.77323 . . ENSG00000173531 ENST00000449682 D 0.88354 -2.37 5.5 5.5 0.81552 . 0.000000 0.40818 N 0.001004 D 0.91713 0.7380 L 0.37466 1.105 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.90997 0.4839 10 0.39692 T 0.17 . 17.9501 0.89050 0.0:1.0:0.0:0.0 . 547 G3XAK1 . V 547 ENSP00000414287:G547V ENSP00000414287:G547V G - 2 0 MST1 49697304 1.000000 0.71417 0.993000 0.49108 0.721000 0.41392 6.545000 0.73883 2.567000 0.86603 0.563000 0.77884 GGC MST1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000342315.3 - ENST00000449682.2 Missense_Mutation SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ FBP2 8789 broad.mit.edu 37 9 97355969 97355969 + Frame_Shift_Del DEL G G - TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr9:97355969delG ENST00000375337.3 - 1.0 106 c.40delC c.(40-42)ctgfs p.L14fs NM_003837.2 NP_003828.2 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 14.0 carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281) cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872) endometrium(1)|large_intestine(3)|lung(5) 9.0 Acute lymphoblastic leukemia(62;0.136) TAGCGGGTCAGGGTGAGCATG 0.552 0 134.0 113.0 120.0 9 97355969.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant Y10812 CCDS6711.1 9q22.3 2012-08-13 ENSG00000130957 ENSG00000130957 8789.0 8789.0 3.1.3.11 3607.0 protein-coding gene gene with protein product 603027.0 9678974 Standard NM_003837 NM_003837 Approved uc004auv.3 O00757 OTTHUMG00000020269 ENST00000375337.3:c.40delC 9.__UNKNOWN__:g.97355969delG ENSP00000364486:p.Leu14fs Q17R39|Q6FI53 __UNKNOWN__ CCDS6711.1 FBP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053189.1 - ENST00000375337.3 Frame_Shift_Del DEL PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ KRTAP10-4 386672 broad.mit.edu 37 21 45993755 45993769 + In_Frame_Del DEL CTGCTGCGCCCCCAG CTGCTGCGCCCCCAG - TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr21:45993755_45993769delCTGCTGCGCCCCCAG ENST00000400374.3 + 1.0 150_164 c.120_134delCTGCTGCGCCCCCAG c.(118-135)ccctgctgcgcccccagc>ccc p.CCAPS41del TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 41.0 36 X 5 AA repeats of C-C-X(3). keratin filament (GO:0045095) NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18.0 GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC 0.698 0 , 484,3132 52,380,1376 , -1.3 0.6 35.0 26,7806 0,26,3890 no coding,intron TSPEAR,KRTAP10-4 NM_198687.1,NM_144991.2 , 52,406,5266 A1A1,A1R,RR 0.332,13.385,4.4549 , , 510,10938 SO:0001651 inframe_deletion AB076351 CCDS42957.1 21q22.3 2006-03-13 2004-07-12 2004-07-14 ENSG00000215454 ENSG00000215454 386672.0 386672.0 """Keratin associated proteins""" 20521.0 protein-coding gene gene with protein product """keratin associated protein 18-4""" KRTAP18-4 Standard NM_198687 NM_198687 Approved KRTAP18.4, KAP10.4 uc002zfk.1 P60372 OTTHUMG00000057641 ENST00000400374.3:c.120_134delCTGCTGCGCCCCCAG 21.__UNKNOWN__:g.45993755_45993769delCTGCTGCGCCCCCAG ENSP00000383225:p.Cys41_Ser45del Q08AS0 __UNKNOWN__ CCDS42957.1 KRTAP10-4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000128045.1 + ENST00000400374.3 In_Frame_Del DEL PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ COL20A1 57642 ucsc.edu 37 20 61941751 61941751 + Missense_Mutation SNP G G A TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr20:61941751G>A ENST00000422202.1 + 10.0 1371 c.1303G>A c.(1303-1305)Gcc>Acc p.A435T COL20A1_ENST00000326996.6_Missense_Mutation_p.A428T|COL20A1_ENST00000435874.1_Missense_Mutation_p.A435T|COL20A1_ENST00000358894.6_Missense_Mutation_p.A428T Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 428.0 Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}. extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576) NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36.0 all_cancers(38;1.39e-10) GGAGGGACCCGCCGCCTCCAC 0.682 0 16.0 18.0 17.0 20 61941751.0 1944.0 4118.0 6062.0 SO:0001583 missense BC043183 CCDS46628.1 20q13.33 2014-02-12 ENSG00000101203 ENSG00000101203 57642.0 57642.0 """Collagens"", ""Fibronectin type III domain containing""" 14670.0 protein-coding gene gene with protein product 10819331 Standard NM_020882 NM_020882 Approved KIAA1510 uc011aau.2 Q9P218 OTTHUMG00000032964 ENST00000422202.1:c.1303G>A 20.__UNKNOWN__:g.61941751G>A ENSP00000414753:p.Ala435Thr Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7 __UNKNOWN__ . . . . . . . . . . G 1.978 -0.434956 0.04669 . . ENSG00000101203 ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202 T;T;T;T 0.54279 0.58;0.58;0.58;0.58 4.59 -1.86 0.07760 Fibronectin, type III (4);Immunoglobulin-like fold (1); 1.048780 0.07485 N 0.904582 T 0.24586 0.0596 N 0.02685 -0.53 0.09310 N 1 B;B 0.12630 0.006;0.003 B;B 0.06405 0.001;0.002 T 0.22836 -1.0205 10 0.11485 T 0.65 . 10.4394 0.44455 0.4275:0.0:0.5725:0.0 . 435;428 Q9P218-2;Q9P218 .;COKA1_HUMAN T 428;428;435;435 ENSP00000351767:A428T;ENSP00000323077:A428T;ENSP00000408690:A435T;ENSP00000414753:A435T ENSP00000323077:A428T A + 1 0 COL20A1 61412196 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 0.424000 0.21330 -0.298000 0.08921 0.467000 0.42956 GCC COL20A1-001 KNOWN basic protein_coding protein_coding OTTHUMT00000080130.4 + ENST00000422202.1 Missense_Mutation SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ SPTB 6710 ucsc.edu 37 14 65218983 65218983 + Missense_Mutation SNP T T C TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr14:65218983T>C ENST00000556626.1 - 33.0 6745 SPTB_ENST00000389722.3_Intron|SPTB_ENST00000342835.4_Intron P11277 SPTB1_HUMAN spectrin, beta, erythrocytic actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779) actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200) 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) 106.0 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) Ttcctcctcctcttcatcctc 0.522 0 23.0 22.0 22.0 14 65218983.0 876.0 1991.0 2867.0 SO:0001627 intron_variant CCDS32099.1, CCDS32100.1 14q24.1-q24.2 2013-01-10 2008-07-29 ENSG00000070182 6710.0 6710.0 """Pleckstrin homology (PH) domain containing""" 11274.0 protein-coding gene gene with protein product """spherocytosis, clinical type I""" 182870 2209094 Standard NM_001024858 Approved uc001xhr.3 P11277 ENST00000556626.1:c.6602+1271A>G 14.__UNKNOWN__:g.65218983T>C Q15510|Q15519 __UNKNOWN__ CCDS32099.1 . . . . . . . . . . T 3.488 -0.104527 0.06967 . . ENSG00000070182 ENST00000335612;ENST00000553938 T 0.59772 0.24 0.858 -0.676 0.11361 . . . . . T 0.33498 0.0865 . . . 0.21325 N 0.999725 B 0.32573 0.376 B 0.30316 0.114 T 0.14924 -1.0455 8 0.23302 T 0.38 . 3.0079 0.06034 0.0:0.3421:0.0:0.6579 . 1002 E7EV95 . G 1002;883 ENSP00000451324:E883G ENSP00000334218:E1002G E - 2 0 SPTB 64288736 0.012000 0.17670 0.149000 0.22428 0.342000 0.28953 -0.370000 0.07523 -0.213000 0.10094 0.255000 0.18592 GAG SPTB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000414076.1 - ENST00000556626.1 Intron SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ MGAT5B 146664 hgsc.bcm.edu 37 17 74898688 74898688 + Silent SNP C C T rs113033355 byFrequency TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 C C . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr17:74898688C>T ENST00000569840.2 + 4.0 955 c.381C>T c.(379-381)aaC>aaT p.N127N MGAT5B_ENST00000428789.2_Silent_p.N138N|MGAT5B_ENST00000301618.4_Silent_p.N127N|MGAT5B_ENST00000374998.3_3'UTR NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 127.0 protein N-linked glycosylation (GO:0006487) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872) breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29.0 TTGCCCAGAACGTCTCCGACA 0.647 C 7.0 0.0032 0.01 0.0028 2184.0 0.9998 , , 0.0003 0.0031 0.972 LOWCOV,EXOME 0.0003 SNP 0 C ,, 77,4327 0,77,2125 28.0 26.0 27.0 381,381,414 -5.1 0.7 17 dbSNP_132 27.0 2,8598 0,2,4298 no coding-synonymous,coding-synonymous,coding-synonymous MGAT5B NM_001199172.1,NM_144677.2,NM_198955.1 ,, 0,79,6423 TT,TC,CC 0.0233,1.7484,0.6075 ,, 127/793,127/791,138/802 74898688.0 79,12925 2202.0 4300.0 6502.0 SO:0001819 synonymous_variant AB109185 CCDS11751.1, CCDS45788.1, CCDS59299.1 17q25.3 2013-02-25 2005-11-16 ENSG00000167889 ENSG00000167889 146664.0 146664.0 """Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases""" 24140.0 protein-coding gene gene with protein product 612441 """mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B""" 14617637, 14623122 Standard NM_144677 NM_001199172 Approved GnT-IX, FLJ25132, GnT-VB uc002jth.3 Q3V5L5 OTTHUMG00000177278 ENST00000569840.2:c.381C>T 17.__UNKNOWN__:g.74898688C>T Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2 __UNKNOWN__ CCDS59299.1 MGAT5B-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000460624.2 + ENST00000569840.2 Silent SNP PCPG-TCGA-QR-A70T-Normal-SM-5EQGZ PDE7A 5150 broad.mit.edu 37 8 66635840 66635840 + Silent SNP T T C TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr8:66635840T>C ENST00000401827.3 - 12.0 1622 c.1179A>G c.(1177-1179)aaA>aaG p.K393K PDE7A_ENST00000396642.3_Silent_p.K393K|PDE7A_ENST00000379419.4_Silent_p.K367K NM_001242318.2 NP_001229247.1 Q13946 PDE7A_HUMAN phosphodiesterase 7A 393.0 Catalytic. {ECO:0000250}. cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165) cytosol (GO:0005829) 3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872) large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1) 10.0 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920) CCAAATGATATTTTTTTTCTA 0.294 0 39.0 41.0 41.0 8 66635840.0 2203.0 4298.0 6501.0 SO:0001819 synonymous_variant L12052 CCDS34901.1, CCDS56538.1 8q13 2008-03-18 ENSG00000205268 5150.0 5150.0 3.1.4.17 """Phosphodiesterases""" 8791.0 protein-coding gene gene with protein product 171885.0 8389765, 9521885 Standard NM_001242318 Approved HCP1 uc003xvq.3 Q13946 ENST00000401827.3:c.1179A>G 8.__UNKNOWN__:g.66635840T>C A0AVH6|A8K436|A8K9G5|O15380|Q96T72 __UNKNOWN__ CCDS56538.1 PDE7A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378905.1 - ENST00000401827.3 Silent SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 RDH8 50700 broad.mit.edu 37 19 10129527 10129527 + Missense_Mutation SNP G G A TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr19:10129527G>A ENST00000591589.1 + 3.0 632 c.443G>A c.(442-444)gGc>gAc p.G148D RDH8_ENST00000171214.1_Missense_Mutation_p.G128D Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 128.0 estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601) cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887) estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745) endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21.0 Epithelial(33;4.24e-05) Vitamin A(DB00162) GTGCTTCCAGGCATGAAGAGG 0.602 0 88.0 85.0 86.0 19 10129527.0 2203.0 4300.0 6503.0 SO:0001583 missense AF229845 CCDS12223.1, CCDS12223.2 19p13.2 2011-09-14 ENSG00000080511 50700.0 50700.0 1.1.1.- """Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2""" 14423.0 protein-coding gene gene with protein product """short chain dehydrogenase/reductase family 28C, member 2""" 608575.0 10753906, 19027726 Standard NM_015725 Approved PRRDH, SDR28C2 uc002mmr.4 Q9NYR8 ENST00000591589.1:c.443G>A 19.__UNKNOWN__:g.10129527G>A ENSP00000466058:p.Gly148Asp Q9H838 __UNKNOWN__ CCDS12223.2 . . . . . . . . . . G 3.858 -0.030382 0.07543 . . ENSG00000080511 ENST00000171214 D 0.93076 -3.16 5.34 3.14 0.36123 NAD(P)-binding domain (1); 0.465573 0.25319 N 0.031536 D 0.85652 0.5746 L 0.38733 1.17 0.32445 N 0.546249 B 0.02656 0.0 B 0.11329 0.006 T 0.75169 -0.3412 10 0.02654 T 1 . 8.0772 0.30722 0.0887:0.1635:0.7478:0.0 . 128 Q9NYR8 RDH8_HUMAN D 128 ENSP00000171214:G128D ENSP00000171214:G128D G + 2 0 RDH8 9990527 0.965000 0.33210 0.609000 0.28983 0.980000 0.70556 2.843000 0.48238 1.177000 0.42855 0.491000 0.48974 GGC RDH8-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000451125.1 + ENST00000591589.1 Missense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 USP9X 8239 broad.mit.edu 37 X 41045776 41045776 + Nonsense_Mutation SNP C C T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chrX:41045776C>T ENST00000378308.2 + 24.0 4198 c.3565C>T c.(3565-3567)Caa>Taa p.Q1189* USP9X_ENST00000324545.8_Nonsense_Mutation_p.Q1189* Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 1189.0 axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511) apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020) co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221) 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) 87.0 TCAGATCAACCAAGTTACCCA 0.408 Ovarian(172;1807 2695 35459 49286) 0 150.0 133.0 139.0 X 41045776.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained X98296 CCDS43930.1, CCDS55403.1 Xp11.4 2010-08-03 2006-02-14 ENSG00000124486 ENSG00000124486 8239.0 8239.0 """Ubiquitin-specific peptidases""" 12632.0 protein-coding gene gene with protein product 300072.0 """ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)""" 8922996 Standard NM_004652 NM_001039590 Approved DFFRX, FAF uc004dfb.3 Q93008 OTTHUMG00000021367 ENST00000378308.2:c.3565C>T X.__UNKNOWN__:g.41045776C>T ENSP00000367558:p.Gln1189* O75550|Q8WWT3|Q8WX12 __UNKNOWN__ CCDS55403.1 . . . . . . . . . . C 48 14.703832 0.99806 . . ENSG00000124486 ENST00000378308;ENST00000324545 . . . 5.56 5.56 0.83823 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.09338 T 0.73 . 18.7026 0.91626 0.0:1.0:0.0:0.0 . . . . X 1189 . ENSP00000316357:Q1189X Q + 1 0 USP9X 40930720 1.000000 0.71417 1.000000 0.80357 0.908000 0.53690 7.445000 0.80570 2.447000 0.82792 0.600000 0.82982 CAA USP9X-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056248.2 + ENST00000378308.2 Nonsense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 PCID2 55795 broad.mit.edu 37 13 113854816 113854816 + Missense_Mutation SNP G G C TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr13:113854816G>C ENST00000337344.4 - 2.0 127 c.51C>G c.(49-51)atC>atG p.I17M PCID2_ENST00000375459.1_Missense_Mutation_p.I15M|PCID2_ENST00000375457.2_Missense_Mutation_p.I15M|PCID2_ENST00000246505.5_Missense_Mutation_p.I17M|PCID2_ENST00000375477.1_Missense_Mutation_p.I17M|PCID2_ENST00000375479.2_Missense_Mutation_p.I17M NM_001127202.2 NP_001120674.1 Q5JVF3 PCID2_HUMAN PCI domain containing 2 17.0 negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10) 20.0 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) CTCTGCTGTCGATGGCTTCGT 0.418 0 112.0 113.0 112.0 13 113854816.0 2203.0 4300.0 6503.0 SO:0001583 missense AK002167 CCDS9532.2, CCDS58301.1, CCDS58302.1 13q34 2006-03-31 ENSG00000126226 ENSG00000126226 55795.0 55795.0 25653.0 protein-coding gene gene with protein product 613713.0 12477932 Standard NM_018386 NM_001127203 Approved FLJ11305 uc031qnm.1 Q5JVF3 OTTHUMG00000017385 ENST00000337344.4:c.51C>G 13.__UNKNOWN__:g.113854816G>C ENSP00000337405:p.Ile17Met A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3 __UNKNOWN__ CCDS9532.2 . . . . . . . . . . G 7.486 0.649608 0.14516 . . ENSG00000126226 ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317 . . . 5.45 -5.0 0.03001 . 0.109437 0.64402 D 0.000011 T 0.55386 0.1917 L 0.55103 1.725 0.48975 D 0.999737 B;B 0.34147 0.438;0.075 B;B 0.39706 0.307;0.023 T 0.51872 -0.8650 9 0.52906 T 0.07 -11.2457 13.2846 0.60235 0.555:0.0:0.445:0.0 . 17;17 Q5JVF3-4;Q5JVF3 .;PCID2_HUMAN M 17;17;17;17;15;15;17;15;17 . ENSP00000246505:I17M I - 3 3 PCID2 112902817 0.931000 0.31567 0.300000 0.25030 0.188000 0.23474 0.049000 0.14099 -1.033000 0.03299 0.655000 0.94253 ATC PCID2-002 KNOWN alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045897.1 - ENST00000337344.4 Missense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 OPRM1 4988 broad.mit.edu 37 6 154414493 154414493 + Missense_Mutation SNP G G T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr6:154414493G>T ENST00000522236.1 + 3.0 2172 OPRM1_ENST00000360422.4_Intron|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000229768.5_Missense_Mutation_p.R418I|OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000419506.2_Intron|OPRM1_ENST00000330432.7_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000522555.1_Intron NM_001145287.1 NP_001138759.1 P35372 OPRM_HUMAN opioid receptor, mu 1 adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33.0 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193) CCTCTTGTCAGATATGACCTC 0.512 0 241.0 230.0 234.0 6 154414493.0 1980.0 4165.0 6145.0 SO:0001627 intron_variant L29301 CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1 6q24-q25 2012-08-08 ENSG00000112038 ENSG00000112038 4988.0 4988.0 """GPCR / Class A : Opioid receptors""" 8156.0 protein-coding gene gene with protein product 600018.0 Standard NM_000914 NM_001145285 Approved MOR1 uc003qpo.1 P35372 OTTHUMG00000015870 ENST00000522236.1:c.864+1886G>T 6.__UNKNOWN__:g.154414493G>T B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57 __UNKNOWN__ CCDS55071.1 . . . . . . . . . . C 5.991 0.366772 0.11352 . . ENSG00000112038 ENST00000229768 T 0.71222 -0.55 5.91 1.79 0.24919 . . . . . T 0.35799 0.0944 . . . 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.35724 -0.9777 8 0.87932 D 0 . 4.4757 0.11739 0.0:0.3778:0.1626:0.4596 . 418 P35372-3 . I 418 ENSP00000229768:R418I ENSP00000229768:R418I R + 2 0 OPRM1 154456186 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.485000 0.06520 -0.202000 0.10268 -0.120000 0.15030 AGA OPRM1-020 PUTATIVE alternative_5_UTR|basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000375975.1 + ENST00000522236.1 Intron SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 NLRP6 171389 broad.mit.edu 37 11 281682 281682 + Missense_Mutation SNP C C T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr11:281682C>T ENST00000312165.5 + 4.0 1948 c.1948C>T c.(1948-1950)Cgc>Tgc p.R650C NLRP6_ENST00000534750.1_Missense_Mutation_p.R650C NM_138329.1 NP_612202.2 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 650.0 G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000) breast(1)|skin(1)|upper_aerodigestive_tract(2) 4.0 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) GCAGCGAGTGCGCTTCTGCCG 0.637 0 78.0 84.0 82.0 11 281682.0 2203.0 4300.0 6503.0 SO:0001583 missense AF479748 CCDS7693.1, CCDS60680.1 11p15 2006-12-08 2006-12-08 2006-12-08 ENSG00000174885 ENSG00000174885 171389.0 171389.0 """Nucleotide-binding domain and leucine rich repeat containing""" 22944.0 protein-coding gene gene with protein product """nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6""" 609650.0 """NACHT, leucine rich repeat and PYD containing 6""" NALP6 12563287, 12019269 Standard NM_138329 NM_138329 Approved PYPAF5, PAN3, CLR11.4 uc010qvs.3 P59044 OTTHUMG00000119070 ENST00000312165.5:c.1948C>T 11.__UNKNOWN__:g.281682C>T ENSP00000309767:p.Arg650Cys A8K9F3|E9PJZ8 __UNKNOWN__ CCDS7693.1 . . . . . . . . . . C 0.394 -0.921719 0.02396 . . ENSG00000174885 ENST00000534750;ENST00000312165 T;T 0.55234 0.53;0.53 2.93 -4.87 0.03123 . 1.387370 0.05169 N 0.499252 T 0.43033 0.1229 L 0.57536 1.79 0.09310 N 1 B;B 0.18013 0.025;0.013 B;B 0.10450 0.003;0.005 T 0.36089 -0.9762 10 0.56958 D 0.05 . 3.361 0.07186 0.3218:0.2303:0.0:0.4479 . 650;650 E9PJZ8;P59044 .;NALP6_HUMAN C 650 ENSP00000433617:R650C;ENSP00000309767:R650C ENSP00000309767:R650C R + 1 0 NLRP6 271682 0.000000 0.05858 0.001000 0.08648 0.020000 0.10135 -1.644000 0.02002 -1.212000 0.02620 -0.521000 0.04368 CGC NLRP6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000239283.1 + ENST00000312165.5 Missense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 ZNF35 7584 broad.mit.edu 37 3 44692675 44692675 + Missense_Mutation SNP A A T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr3:44692675A>T ENST00000453164.1 + 2.0 310 c.116A>T c.(115-117)cAc>cTc p.H39L ZNF35_ENST00000542250.1_5'UTR|ZNF35_ENST00000296092.3_Missense_Mutation_p.H39L|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000396056.2_Missense_Mutation_p.H39L|ZNF35_ENST00000399560.2_Missense_Mutation_p.H39L P13682 ZNF35_HUMAN zinc finger protein 35 39.0 Globular domain. cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12.0 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) CAACAAGTGCACTCCGAGAAC 0.542 0 70.0 69.0 69.0 3 44692675.0 2203.0 4300.0 6503.0 SO:0001583 missense X07289 CCDS2718.2 3p21.32 2013-01-08 2006-05-11 ENSG00000169981 ENSG00000169981 7584.0 7584.0 """Zinc fingers, C2H2-type""" 13099.0 protein-coding gene gene with protein product 194533.0 """zinc finger protein 35 (clone HF.10)""" 2108922, 1572646 Standard NM_003420 NM_003420 Approved HF.10, HF10, Zfp105 uc003cnq.3 P13682 OTTHUMG00000133091 ENST00000453164.1:c.116A>T 3.__UNKNOWN__:g.44692675A>T ENSP00000401311:p.His39Leu B2RBU6|Q53Y54|Q96D01 __UNKNOWN__ . . . . . . . . . . A 13.06 2.122953 0.37436 . . ENSG00000169981 ENST00000396056;ENST00000415571;ENST00000432115;ENST00000296092;ENST00000399560;ENST00000453164 T 0.09073 3.02 3.7 -4.21 0.03812 . 1.255730 0.05811 N 0.614052 T 0.04724 0.0128 N 0.24115 0.695 0.09310 N 0.999999 B 0.12013 0.005 B 0.06405 0.002 T 0.42965 -0.9420 10 0.54805 T 0.06 1.9234 0.9277 0.01328 0.2582:0.3308:0.2487:0.1623 . 39 P13682 ZNF35_HUMAN L 39 ENSP00000379368:H39L ENSP00000296092:H39L H + 2 0 ZNF35 44667679 0.000000 0.05858 0.000000 0.03702 0.550000 0.35303 -0.614000 0.05604 -0.762000 0.04664 -0.471000 0.05019 CAC ZNF35-006 PUTATIVE alternative_5_UTR|basic|exp_conf protein_coding protein_coding OTTHUMT00000343851.1 + ENST00000453164.1 Missense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 PCDH18 54510 broad.mit.edu 37 4 138451498 138451498 + Missense_Mutation SNP C C T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr4:138451498C>T ENST00000507846.1 - 2.0 1638 c.1085G>A c.(1084-1086)cGt>cAt p.R362H PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000344876.4_Missense_Mutation_p.R582H Q9HCL0 PCD18_HUMAN protocadherin 18 582.0 Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}. brain development (GO:0007420)|homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) p.R582H(2) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86.0 all_hematologic(180;0.24) CGTATTATTACGCAATGCAGG 0.463 C 1.0 0.0005 0.0028 2184.0 1.0 , , 0.0003 0.0005 0.9547 EXOME 0.0006 SNP 2 Substitution - Missense(2) breast(1)|pancreas(1) C HIS/ARG 0,4406 0,0,2203 207.0 193.0 197.0 1745 4.1 0.1 4 197.0 1,8599 1.2+/-3.3 0,1,4299 yes missense PCDH18 NM_019035.3 29 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 benign 582/1136 138451498.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AL137471 CCDS34064.1, CCDS75193.1 4q28.3 2010-01-26 ENSG00000189184 ENSG00000189184 54510.0 54510.0 """Cadherins / Protocadherins : Non-clustered""" 14268.0 protein-coding gene gene with protein product 608287.0 10835267, 11549318 Standard NM_019035 XM_005263070 Approved KIAA1562, PCDH68L uc003ihe.4 Q9HCL0 OTTHUMG00000161348 ENST00000507846.1:c.1085G>A 4.__UNKNOWN__:g.138451498C>T ENSP00000425903:p.Arg362His A8K7K3|B7ZKT1|Q52LS2 __UNKNOWN__ 1 4.578754578754579E-4 0 0.0 1 0.0027624309392265192 0 0.0 0 0.0 C 3.828 -0.036444 0.07497 0.0 1.16E-4 ENSG00000189184 ENST00000344876;ENST00000412923;ENST00000507846 T;T;T 0.55413 0.61;0.62;0.52 5.93 4.05 0.47172 Cadherin (2);Cadherin-like (1); 0.321942 0.22435 N 0.060092 T 0.29093 0.0723 N 0.05199 -0.095 0.80722 D 1 B;B;B 0.06786 0.0;0.001;0.0 B;B;B 0.06405 0.0;0.002;0.001 T 0.04752 -1.0929 10 0.42905 T 0.14 . 7.9972 0.30275 0.0:0.5295:0.0:0.4705 . 362;582;582 D6RIG4;Q9HCL0-2;Q9HCL0 .;.;PCD18_HUMAN H 582;582;362 ENSP00000355082:R582H;ENSP00000390688:R582H;ENSP00000425903:R362H ENSP00000355082:R582H R - 2 0 PCDH18 138670948 1.000000 0.71417 0.067000 0.19924 0.245000 0.25701 1.744000 0.38268 0.679000 0.31345 0.563000 0.77884 CGT PCDH18-003 NOVEL alternative_5_UTR|basic|exp_conf protein_coding protein_coding OTTHUMT00000364616.1 - ENST00000507846.1 Missense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 SDR42E1 93517 broad.mit.edu 37 16 82033014 82033014 + Missense_Mutation SNP T T C TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr16:82033014T>C ENST00000328945.5 - 3.0 1011 c.884A>G c.(883-885)gAg>gGg p.E295G NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 295.0 steroid biosynthetic process (GO:0006694) integral component of membrane (GO:0016021) 3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854) NS(2)|endometrium(1)|lung(4)|skin(3) 10.0 GTGAACCATCTCTGTTAGAAA 0.478 0 72.0 70.0 71.0 16 82033014.0 1933.0 4144.0 6077.0 SO:0001583 missense AF161368 CCDS42205.1 16q23.3 2011-09-14 ENSG00000184860 93517.0 93517.0 1.1.1.- """Short chain dehydrogenase/reductase superfamily / Extended SDR fold""" 29834.0 protein-coding gene gene with protein product 19027726 Standard NM_145168 NM_145168 Approved HSPC105 uc002fgu.3 Q8WUS8 ENST00000328945.5:c.884A>G 16.__UNKNOWN__:g.82033014T>C ENSP00000332407:p.Glu295Gly B2RDS1|Q9P0D1 __UNKNOWN__ CCDS42205.1 . . . . . . . . . . T 17.49 3.401563 0.62288 . . ENSG00000184860 ENST00000328945 D 0.87029 -2.2 5.24 5.24 0.73138 . 0.000000 0.85682 D 0.000000 D 0.91057 0.7186 H 0.94925 3.6 0.80722 D 1 P 0.42556 0.783 B 0.41174 0.349 D 0.92393 0.5923 10 0.51188 T 0.08 -24.4455 14.3302 0.66550 0.0:0.0:0.0:1.0 . 295 Q8WUS8 D42E1_HUMAN G 295 ENSP00000332407:E295G ENSP00000332407:E295G E - 2 0 SDR42E1 80590515 1.000000 0.71417 0.614000 0.29051 0.984000 0.73092 8.040000 0.89188 1.978000 0.57642 0.533000 0.62120 GAG SDR42E1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000388081.2 - ENST00000328945.5 Missense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 USP9X 8239 broad.mit.edu 37 X 41069761 41069761 + Splice_Site SNP G G A TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chrX:41069761G>A ENST00000378308.2 + 33.0 5648 c.e33-1 USP9X_ENST00000324545.8_Splice_Site Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511) apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020) co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221) 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) 87.0 TCATTTCTTAGGCTTTGGGGT 0.328 Ovarian(172;1807 2695 35459 49286) 0 109.0 103.0 105.0 X 41069761.0 2160.0 4277.0 6437.0 SO:0001630 splice_region_variant X98296 CCDS43930.1, CCDS55403.1 Xp11.4 2010-08-03 2006-02-14 ENSG00000124486 ENSG00000124486 8239.0 8239.0 """Ubiquitin-specific peptidases""" 12632.0 protein-coding gene gene with protein product 300072.0 """ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)""" 8922996 Standard NM_004652 NM_001039590 Approved DFFRX, FAF uc004dfb.3 Q93008 OTTHUMG00000021367 ENST00000378308.2:c.5016-1G>A X.__UNKNOWN__:g.41069761G>A O75550|Q8WWT3|Q8WX12 __UNKNOWN__ CCDS55403.1 . . . . . . . . . . G 21.4 4.146363 0.77888 . . ENSG00000124486 ENST00000378308;ENST00000324545 . . . 5.1 5.1 0.69264 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 17.6223 0.88085 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . USP9X 40954705 1.000000 0.71417 1.000000 0.80357 0.977000 0.68977 9.476000 0.97823 2.090000 0.63153 0.594000 0.82650 . USP9X-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056248.2 Intron + ENST00000378308.2 Splice_Site SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 BRD1 23774 broad.mit.edu 37 22 50192316 50192316 + Missense_Mutation SNP C C T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr22:50192316C>T ENST00000216267.8 - 4.0 2161 c.1675G>A c.(1675-1677)Gcc>Acc p.A559T BRD1_ENST00000404760.1_Missense_Mutation_p.A559T|BRD1_ENST00000457780.2_Missense_Mutation_p.A559T|BRD1_ENST00000404034.1_Missense_Mutation_p.A559T|BRD1_ENST00000342989.5_Missense_Mutation_p.A154T|BRD1_ENST00000542442.1_Missense_Mutation_p.A252T NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 559.0 histone H3 acetylation (GO:0043966) MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634) histone binding (GO:0042393)|zinc ion binding (GO:0008270) endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37.0 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) AGCTCCATGGCGACCTGCTCC 0.672 0 29.0 29.0 29.0 22 50192316.0 2201.0 4299.0 6500.0 SO:0001583 missense AF005067 CCDS14080.1 22q13.33 2008-07-01 2002-01-14 ENSG00000100425 ENSG00000100425 23774.0 23774.0 1102.0 protein-coding gene gene with protein product """BR140-like""" 604589.0 """bromodomain-containing 1""" 10591208, 10602503 Standard NM_014577 NM_014577 Approved BRL, BRPF2 uc003biv.3 O95696 OTTHUMG00000150288 ENST00000216267.8:c.1675G>A 22.__UNKNOWN__:g.50192316C>T ENSP00000216267:p.Ala559Thr A6ZJA4 __UNKNOWN__ CCDS14080.1 . . . . . . . . . . C 14.31 2.498554 0.44455 . . ENSG00000100425 ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212 T;T;T;T;T;T 0.62498 2.43;2.43;2.37;2.19;0.02;0.02 4.96 4.96 0.65561 Bromodomain (1); 0.112377 0.64402 D 0.000011 T 0.56746 0.2006 M 0.64567 1.98 0.45676 D 0.998597 B;B;B;B 0.27559 0.027;0.181;0.015;0.046 B;B;B;B 0.14578 0.004;0.011;0.003;0.009 T 0.55566 -0.8121 10 0.31617 T 0.26 . 13.5565 0.61761 0.0:0.9222:0.0:0.0778 . 559;154;559;559 Q86X06;B7Z926;O95696;O95696-2 .;.;BRD1_HUMAN;. T 559;559;559;559;252;154;19 ENSP00000216267:A559T;ENSP00000384076:A559T;ENSP00000385858:A559T;ENSP00000410042:A559T;ENSP00000437514:A252T;ENSP00000345886:A154T ENSP00000216267:A559T A - 1 0 BRD1 48578320 0.928000 0.31464 0.999000 0.59377 0.355000 0.29361 1.988000 0.40697 2.316000 0.78162 0.655000 0.94253 GCC BRD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317402.1 - ENST00000216267.8 Missense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 FGFR1 2260 broad.mit.edu 37 8 38274849 38274849 + Missense_Mutation SNP G G T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr8:38274849G>T ENST00000397103.1 - 10.0 1427 c.1371C>A c.(1369-1371)aaC>aaA p.N457K FGFR1_ENST00000447712.2_Missense_Mutation_p.N546K|FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K|FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K|FGFR1_ENST00000341462.5_Missense_Mutation_p.N546K|FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 546.0 angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847) cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713) p.N546K(4) FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50.0 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398) CCCCCAGCAGGTTGATGATAT 0.542 1.0 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" Melanoma(146;1153 1840 21453 21841 43625) Dom yes 8 8p11.2-p11.1 2260.0 fibroblast growth factor receptor 1 yes L 4 Substitution - Missense(4) central_nervous_system(4) 87.0 95.0 92.0 8 38274849.0 2154.0 4289.0 6443.0 SO:0001583 missense M34185 CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1 8p11.23-p11.22 2014-04-03 2008-08-01 ENSG00000077782 ENSG00000077782 2260.0 2260.0 2.7.10.1 """CD molecules"", ""Immunoglobulin superfamily / I-set domain containing""" 3688.0 protein-coding gene gene with protein product """Pfeiffer syndrome""" 136350.0 """fms-related tyrosine kinase 2""" FLT2, KAL2 2162671 Standard NM_015850 Approved H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331 uc011lbu.2 P11362 OTTHUMG00000147366 ENST00000397103.1:c.1371C>A 8.__UNKNOWN__:g.38274849G>T ENSP00000380292:p.Asn457Lys A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2 __UNKNOWN__ . . . . . . . . . . G 23.4 4.406498 0.83230 . . ENSG00000077782 ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108 D;D;D;D;D;D;D;D;D;D;D 0.90620 -2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7 5.57 3.76 0.43208 Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 D 0.87577 0.6212 N 0.04387 -0.21 0.80722 D 1 D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0 D;D;D;D;D 0.97110 1.0;1.0;1.0;1.0;1.0 D 0.88572 0.3130 10 0.87932 D 0 . 9.3132 0.37919 0.2169:0.0:0.7831:0.0 . 455;455;546;536;544 P11362-14;P11362-4;P11362;P11362-20;P11362-2 .;.;FGFR1_HUMAN;.;. K 544;577;546;546;546;544;544;457;536;455;457;544 ENSP00000380280:N544K;ENSP00000393312:N577K;ENSP00000400162:N546K;ENSP00000340636:N546K;ENSP00000432972:N544K;ENSP00000380302:N544K;ENSP00000348537:N457K;ENSP00000337247:N536K;ENSP00000327229:N455K;ENSP00000380292:N457K;ENSP00000380297:N544K ENSP00000311337:N546K N - 3 2 FGFR1 38394006 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 2.001000 0.40825 1.491000 0.48482 0.655000 0.94253 AAC FGFR1-011 NOVEL non_canonical_conserved|basic|exp_conf protein_coding protein_coding OTTHUMT00000304020.1 - ENST00000397103.1 Missense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 CHD3 1107 broad.mit.edu 37 17 7803968 7803968 + Missense_Mutation SNP G G A TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr17:7803968G>A ENST00000380358.4 + 18.0 3075 c.3074G>A c.(3073-3075)cGg>cAg p.R1025Q CHD3_ENST00000330494.7_Missense_Mutation_p.R966Q|CHD3_ENST00000358181.4_Missense_Mutation_p.R966Q NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 966.0 centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351) centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65.0 Prostate(122;0.202) CACATGCTGCGGAGACTCAAG 0.512 0 73.0 71.0 72.0 17 7803968.0 2203.0 4300.0 6503.0 SO:0001583 missense U08379 CCDS32553.2, CCDS32554.1, CCDS32555.1 17p13 2013-01-28 ENSG00000170004 ENSG00000170004 1107.0 1107.0 """Zinc fingers, PHD-type""" 1918.0 protein-coding gene gene with protein product 602120.0 9326634, 7560064 Standard NM_001005273 NM_001005271 Approved Mi-2a, ZFH, Mi2-ALPHA uc002gjd.2 Q12873 OTTHUMG00000150427 ENST00000380358.4:c.3074G>A 17.__UNKNOWN__:g.7803968G>A ENSP00000369716:p.Arg1025Gln D3DTQ9|E9PG89|Q9Y4I0 __UNKNOWN__ CCDS32553.2 . . . . . . . . . . G 19.39 3.817556 0.70912 . . ENSG00000170004 ENST00000380358;ENST00000358181;ENST00000330494 D;D;D 0.95272 -3.66;-3.66;-3.66 4.73 4.73 0.59995 SNF2-related (1); 0.000000 0.39407 N 0.001368 D 0.97898 0.9309 M 0.92555 3.32 0.80722 D 1 D;D;D 0.76494 0.998;0.998;0.999 D;D;D 0.80764 0.986;0.992;0.994 D 0.98810 1.0743 10 0.87932 D 0 -21.7737 18.2447 0.89981 0.0:0.0:1.0:0.0 . 966;966;1025 Q12873-2;Q12873;E9PG89 .;CHD3_HUMAN;. Q 1025;966;966 ENSP00000369716:R1025Q;ENSP00000350907:R966Q;ENSP00000332628:R966Q ENSP00000332628:R966Q R + 2 0 CHD3 7744693 1.000000 0.71417 1.000000 0.80357 0.950000 0.60333 7.763000 0.85283 2.627000 0.88993 0.561000 0.74099 CGG CHD3-003 NOVEL not_organism_supported|basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000318052.1 + ENST00000380358.4 Missense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 THADA 63892 broad.mit.edu 37 2 43799001 43799001 + Splice_Site SNP C C T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr2:43799001C>T ENST00000405006.4 - 13.0 2260 c.1909G>A c.(1909-1911)Gta>Ata p.V637I THADA_ENST00000404790.1_Splice_Site_p.V637I|THADA_ENST00000405975.2_Splice_Site_p.V637I|THADA_ENST00000415080.2_Splice_Site_p.V347I|THADA_ENST00000402360.2_Splice_Site_p.V637I|THADA_ENST00000330266.7_Splice_Site_p.V347I|THADA_ENST00000403856.1_Splice_Site_p.V637I NM_001083953.1|NM_001271643.1 NP_001077422.1|NP_001258572.1 Q6YHU6 THADA_HUMAN thyroid adenoma associated 637.0 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) 66.0 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TCTATCCTTACCTAAAAAACA 0.318 0 99.0 99.0 99.0 2 43799001.0 1835.0 4088.0 5923.0 SO:0001630 splice_region_variant AY149629 CCDS46268.1, CCDS62901.1, CCDS62902.1 2p21 2008-02-05 ENSG00000115970 ENSG00000115970 63892.0 63892.0 19217.0 protein-coding gene gene with protein product 611800.0 12063398, 11214970 Standard NM_022065 NM_022065 Approved FLJ21877, KIAA1767, GITA uc002rsx.4 Q6YHU6 OTTHUMG00000152398 ENST00000405006.4:c.1909-1G>A 2.__UNKNOWN__:g.43799001C>T A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7 __UNKNOWN__ CCDS46268.1 . . . . . . . . . . C 16.23 3.064687 0.55432 . . ENSG00000115970 ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856 T;T;T;T;T;T;T 0.36878 1.23;1.23;1.23;1.23;1.44;1.43;1.23 5.16 4.29 0.51040 Armadillo-type fold (1); 0.000000 0.64402 D 0.000001 T 0.58424 0.2121 M 0.73598 2.24 0.46954 D 0.999265 B;D;D;D;D 0.76494 0.075;0.999;0.991;0.983;0.999 B;D;D;P;D 0.80764 0.074;0.994;0.926;0.776;0.987 T 0.59418 -0.7458 10 0.37606 T 0.19 -5.2672 14.2286 0.65875 0.0:0.9277:0.0:0.0723 . 637;637;637;347;637 B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6 .;.;.;.;THADA_HUMAN I 347;637;637;347;637;637;637;637 ENSP00000331105:V347I;ENSP00000386088:V637I;ENSP00000416048:V347I;ENSP00000385995:V637I;ENSP00000385441:V637I;ENSP00000384266:V637I;ENSP00000385469:V637I ENSP00000331105:V347I V - 1 0 THADA 43652505 1.000000 0.71417 1.000000 0.80357 0.555000 0.35460 5.635000 0.67841 1.322000 0.45245 -0.186000 0.12905 GTA THADA-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000326070.3 Missense_Mutation - ENST00000405006.4 Splice_Site SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 WHAMMP3 0 broad.mit.edu 37 15 23191911 23191911 + RNA SNP C C T rs147199465 by1000genomes TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr15:23191911C>T ENST00000400153.2 - 0.0 1785 NR_003521.1 Q1A5X7 WHAL1_HUMAN WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3 TGATTTTCTTCGCACTGATCC 0.408 231.0 0.11 0.22 0.09 2184.0 0.02 0.9622 , , 0.0118 0.1 0.1077 0.8697 LOWCOV 0.0074 SNP 0 BC048987 15q11.2 2014-03-20 2011-06-24 2011-06-24 ENSG00000187667 ENSG00000276141 339005.0 339005.0 27892.0 pseudogene pseudogene """WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)""" WHDC1L1, WHAMML1 18226259 Standard NR_003521 NR_003521 Approved uc001yvg.3 Q1A5X7 OTTHUMG00000171921 ENST00000400153.2: 15.__UNKNOWN__:g.23191911C>T Q1A5X8|Q52M16|Q52M18 __UNKNOWN__ WHAMMP3-001 KNOWN basic processed_transcript pseudogene OTTHUMT00000415907.1 - ENST00000400153.2 RNA SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 CACNA1H 8912 broad.mit.edu 37 16 1261283 1261283 + Missense_Mutation SNP T T A TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr16:1261283T>A ENST00000565831.1 + 21.0 4339 c.4339T>A c.(4339-4341)Ttg>Atg p.L1447M CACNA1H_ENST00000348261.5_Missense_Mutation_p.L1447M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.L1447M O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1447.0 aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810) caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891) low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110) breast(4)|endometrium(5)|kidney(2)|lung(23) 34.0 Hepatocellular(780;0.00369) Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909) TTTTGGCATTTTGGGTGTGCA 0.637 0 114.0 129.0 124.0 16 1261283.0 2163.0 4243.0 6406.0 SO:0001583 missense AL031703 CCDS45375.1, CCDS45376.1 16p13.3 2012-03-07 2007-02-16 8912.0 8912.0 """Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels""" 1395.0 protein-coding gene gene with protein product 607904.0 9670923, 16382099 Standard NM_001005407 NM_021098 Approved Cav3.2 uc002cks.3 O95180 ENST00000565831.1:c.4339T>A 16.__UNKNOWN__:g.1261283T>A ENSP00000455840:p.Leu1447Met B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5 __UNKNOWN__ CCDS45376.1 . . . . . . . . . . T 10.18 1.279856 0.23392 . . ENSG00000196557 ENST00000348261;ENST00000358590 D;D 0.98567 -5.0;-5.0 4.35 2.23 0.28157 Ion transport (1); 0.000000 0.64402 D 0.000002 D 0.97898 0.9309 L 0.49778 1.585 0.36730 D 0.881661 D;D;D;D;D 0.89917 1.0;1.0;1.0;0.999;0.999 D;D;D;D;D 0.97110 1.0;1.0;0.999;0.999;0.998 D 0.97931 1.0320 10 0.87932 D 0 . 7.8163 0.29260 0.0:0.697:0.0:0.303 . 188;188;188;1447;1447 A2SX38;A2SX35;A2SX37;O95180-2;O95180 .;.;.;.;CAC1H_HUMAN M 1447 ENSP00000334198:L1447M;ENSP00000351401:L1447M ENSP00000334198:L1447M L + 1 2 CACNA1H 1201284 0.904000 0.30761 0.389000 0.26208 0.049000 0.14656 1.362000 0.34148 0.554000 0.29061 -0.608000 0.04076 TTG CACNA1H-002 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000421602.2 + ENST00000565831.1 Missense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 SCUBE2 57758 broad.mit.edu 37 11 9068919 9068919 + Silent SNP A A G TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr11:9068919A>G ENST00000520467.1 - 16.0 2056 c.1986T>C c.(1984-1986)caT>caC p.H662H SCUBE2_ENST00000309263.3_Silent_p.H633H|SCUBE2_ENST00000457346.2_Silent_p.H662H|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Silent_p.H507H NM_020974.2 NP_066025 Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 633.0 extracellular region (GO:0005576) calcium ion binding (GO:0005509) 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) 42.0 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) GGTTTTCTGCATGACCCTGGC 0.542 0 72.0 69.0 70.0 11 9068919.0 2201.0 4296.0 6497.0 SO:0001819 synonymous_variant AK131552 CCDS7797.1, CCDS7797.2, CCDS53599.1 11p15.4 2014-09-04 ENSG00000175356 ENSG00000175356 57758.0 57758.0 30425.0 protein-coding gene gene with protein product 611747.0 12270931, 11528127 Standard NM_020974 NM_020974 Approved Cegf1, Cegb1, FLJ16792 uc001mhi.2 Q9NQ36 OTTHUMG00000163880 ENST00000520467.1:c.1986T>C 11.__UNKNOWN__:g.9068919A>G Q2NKQ8|Q6ZWI1 __UNKNOWN__ CCDS7797.2 SCUBE2-001 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000376181.1 - ENST00000520467.1 Silent SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 ROBO2 6092 broad.mit.edu 37 3 77614243 77614243 + Missense_Mutation SNP T T G TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr3:77614243T>G ENST00000332191.8 + 12.0 1877 c.1821T>G c.(1819-1821)agT>agG p.S607R ROBO2_ENST00000461745.1_Missense_Mutation_p.S607R|ROBO2_ENST00000487694.3_Missense_Mutation_p.S623R Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 607.0 Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}. apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657) axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802) 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) 117.0 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) GTGACCCAAGTCCCATGTCAG 0.468 0 136.0 135.0 135.0 3 77614243.0 1986.0 4162.0 6148.0 SO:0001583 missense AF040991 CCDS43109.1, CCDS54609.1 3p12.3 2013-02-11 2001-11-28 ENSG00000185008 ENSG00000185008 6092.0 6092.0 """Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 10250.0 protein-coding gene gene with protein product 602431.0 """roundabout (axon guidance receptor, Drosophila) homolog 2""" 9458045 Standard XM_031246 NM_002942 Approved KIAA1568 uc003dpy.4 Q9HCK4 OTTHUMG00000158935 ENST00000332191.8:c.1821T>G 3.__UNKNOWN__:g.77614243T>G ENSP00000327536:p.Ser607Arg O43608|Q19AB4|Q19AB5 __UNKNOWN__ . . . . . . . . . . T 17.39 3.377706 0.61735 . . ENSG00000185008 ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467 T;T;T 0.70749 -0.51;-0.51;-0.51 6.02 -1.74 0.08056 Fibronectin, type III (3);Immunoglobulin-like fold (1); 0.000000 0.53938 D 0.000047 D 0.87281 0.6138 H 0.97265 3.97 0.49130 D 0.999755 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 D 0.88407 0.3019 9 0.87932 D 0 . 11.5634 0.50792 0.0:0.4115:0.0:0.5885 . 623;607;607 Q19AB5;F8W703;Q9HCK4 .;.;ROBO2_HUMAN R 623;623;627;607;607;328 ENSP00000417335:S623R;ENSP00000417164:S607R;ENSP00000327536:S607R ENSP00000327536:S607R S + 3 2 ROBO2 77696933 0.031000 0.19500 0.581000 0.28614 0.908000 0.53690 -0.607000 0.05648 -0.717000 0.04955 -0.248000 0.11899 AGT ROBO2-003 NOVEL basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000352601.1 + ENST00000332191.8 Missense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 GBA 2629 broad.mit.edu 37 1 155207977 155207977 + Missense_Mutation SNP T T G TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr1:155207977T>G ENST00000327247.5 - 7.0 941 c.709A>C c.(709-711)Aag>Cag p.K237Q GBA_ENST00000536770.1_Missense_Mutation_p.K124Q|GBA_ENST00000427500.3_Missense_Mutation_p.K188Q|GBA_ENST00000428024.3_Missense_Mutation_p.K150Q|GBA_ENST00000368373.3_Missense_Mutation_p.K237Q NM_001005741.2|NM_001005742.2 NP_001005741.1|NP_001005742.1 P04062 GLCM_HUMAN glucosidase, beta, acid 237.0 K -> E (in GD; severe; loss of activity; increases susceptibility to proteolytic degradation). {ECO:0000269|PubMed:11933202}. carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021) extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765) glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26.0 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Velaglucerase alfa(DB06720) GGCTGTCCCTTGAGTGACCCC 0.577 Gaucher disease type I 0 GRCh37 CM020712 GBA M 109.0 92.0 98.0 1 155207977.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database glucocerebrosidase insufficiency M19285 CCDS1102.1, CCDS53373.1, CCDS53374.1 1q22 2010-01-19 2010-01-19 ENSG00000177628 ENSG00000177628 2629.0 2629.0 3.2.1.21 4177.0 protein-coding gene gene with protein product 606463.0 """glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)""" GLUC 3359914 Standard NM_000157 NM_001005742 Approved GBA1 uc001fjl.3 P04062 OTTHUMG00000035841 ENST00000327247.5:c.709A>C 1.__UNKNOWN__:g.155207977T>G ENSP00000314508:p.Lys237Gln A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8 __UNKNOWN__ CCDS1102.1 . . . . . . . . . . . 12.43 1.934514 0.34189 . . ENSG00000177628 ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928 D;D;D;D;D 0.99232 -5.6;-5.6;-5.6;-5.6;-5.6 3.66 3.66 0.41972 Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1); 0.072863 0.52532 D 0.000080 D 0.98667 0.9553 M 0.82923 2.615 0.50813 D 0.999895 P;P;P 0.51933 0.949;0.616;0.667 P;B;B 0.54431 0.752;0.097;0.22 D 0.98338 1.0537 10 0.34782 T 0.22 . 8.8757 0.35343 0.0:0.0:0.0:1.0 . 188;124;237 B7Z5G2;F5H241;P04062 .;.;GLCM_HUMAN Q 188;150;237;237;124;194;222 ENSP00000402577:K188Q;ENSP00000397986:K150Q;ENSP00000357357:K237Q;ENSP00000314508:K237Q;ENSP00000445560:K124Q ENSP00000314508:K237Q K - 1 0 GBA 153474601 1.000000 0.71417 1.000000 0.80357 0.492000 0.33523 7.134000 0.77268 1.663000 0.50791 0.248000 0.18094 AAG GBA-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087204.1 - ENST00000327247.5 Missense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 AUP1 550 broad.mit.edu 37 2 74754875 74754875 + Missense_Mutation SNP G G A TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr2:74754875G>A ENST00000377526.3 - 8.0 1138 c.829C>T c.(829-831)Cgc>Tgc p.R277C NM_181575.3 NP_853553.1 Q9Y679 AUP1_HUMAN ancient ubiquitous protein 1 343.0 endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 11.0 GACTGGGGGCGCAATCTGGGG 0.512 0 156.0 170.0 166.0 2 74754875.0 1998.0 4164.0 6162.0 SO:0001583 missense CCDS42702.1 2p13 2008-05-21 ENSG00000115307 ENSG00000115307 550.0 550.0 891.0 protein-coding gene gene with protein product 602434.0 8812468, 12042322 Standard NM_181575 XM_005264392 Approved uc002smf.3 Q9Y679 OTTHUMG00000129964 ENST00000377526.3:c.829C>T 2.__UNKNOWN__:g.74754875G>A ENSP00000366748:p.Arg277Cys C0H5W8|Q9H866|Q9UNQ6|Q9Y685 __UNKNOWN__ CCDS42702.1 . . . . . . . . . . G 12.32 1.903540 0.33628 . . ENSG00000115307 ENST00000377526;ENST00000258081;ENST00000412627 . . . 5.42 3.61 0.41365 . 0.363552 0.27284 N 0.020078 T 0.22589 0.0545 N 0.08118 0 0.36431 D 0.864931 D;D;P 0.58620 0.983;0.958;0.61 B;B;B 0.41299 0.353;0.197;0.169 T 0.31392 -0.9945 9 0.66056 D 0.02 -5.1007 10.3604 0.43989 0.1647:0.0:0.8353:0.0 . 334;343;277 E7EU18;Q9Y679;Q9Y679-2 .;AUP1_HUMAN;. C 277;341;279 . ENSP00000258081:R341C R - 1 0 AUP1 74608383 0.118000 0.22208 0.865000 0.33974 0.980000 0.70556 3.183000 0.50918 1.304000 0.44892 0.561000 0.74099 CGC AUP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252228.2 - ENST00000377526.3 Missense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 CASP3 836 broad.mit.edu 37 4 185553476 185553476 + Missense_Mutation SNP C C T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr4:185553476C>T ENST00000308394.4 - 5.0 515 c.253G>A c.(253-255)Gtc>Atc p.V85I CASP3_ENST00000393585.2_Missense_Mutation_p.V85I|CASP3_ENST00000517513.1_Missense_Mutation_p.V85I|CASP3_ENST00000523916.1_Missense_Mutation_p.V85I|CASP3_ENST00000393588.4_Missense_Mutation_p.V85I NM_004346.3 NP_004337.2 P42574 CASP3_HUMAN caspase 3, apoptosis-related cysteine peptidase 85.0 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029) cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12.0 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Minocycline(DB01017) TTATTCCTGACTTCATATTTC 0.338 0 128.0 120.0 123.0 4 185553476.0 2203.0 4300.0 6503.0 SO:0001583 missense BC016926 CCDS3836.1 4q34 2008-02-05 2005-08-17 ENSG00000164305 ENSG00000164305 836.0 836.0 """Caspases""" 1504.0 protein-coding gene gene with protein product 600636.0 """caspase 3, apoptosis-related cysteine protease""" 8780721 Standard NM_004346 NM_004346 Approved CPP32, CPP32B, Yama, apopain uc003iwi.3 P42574 OTTHUMG00000133681 ENST00000308394.4:c.253G>A 4.__UNKNOWN__:g.185553476C>T ENSP00000311032:p.Val85Ile A8K5M2|D3DP53|Q96AN1|Q96KP2 __UNKNOWN__ CCDS3836.1 . . . . . . . . . . C 16.27 3.075339 0.55646 . . ENSG00000164305 ENST00000308394;ENST00000393585;ENST00000523916;ENST00000438467;ENST00000517513;ENST00000393588;ENST00000447121 T;T;T;T;T;T 0.56275 0.47;3.53;0.47;3.53;3.53;3.53 6.17 5.33 0.75918 Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1); 0.110082 0.64402 D 0.000007 T 0.53061 0.1773 M 0.73598 2.24 0.58432 D 0.999999 B;B 0.34103 0.156;0.437 B;B 0.33254 0.16;0.11 T 0.57015 -0.7883 10 0.54805 T 0.06 . 11.9645 0.53027 0.1229:0.8134:0.0:0.0637 . 85;85 P42574;A8MVM1 CASP3_HUMAN;. I 85;85;85;94;85;85;85 ENSP00000311032:V85I;ENSP00000377210:V85I;ENSP00000428929:V85I;ENSP00000428372:V85I;ENSP00000377213:V85I;ENSP00000407142:V85I ENSP00000311032:V85I V - 1 0 CASP3 185790470 1.000000 0.71417 1.000000 0.80357 0.711000 0.40976 1.641000 0.37197 1.606000 0.50161 -0.182000 0.12963 GTC CASP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257885.2 - ENST00000308394.4 Missense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 DOCK4 9732 broad.mit.edu 37 7 111484935 111484935 + Nonsense_Mutation SNP C C A TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr7:111484935C>A ENST00000437633.1 - 25.0 2876 c.2620G>T c.(2620-2622)Gaa>Taa p.E874* DOCK4_ENST00000428084.1_Nonsense_Mutation_p.E874* NM_014705.3 NP_055520.3 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 874.0 cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421) guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971) 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) 72.0 Acute lymphoblastic leukemia(1;0.0441) ACATCTATTTCCTCCAGCACA 0.428 0 121.0 118.0 119.0 7 111484935.0 1873.0 4116.0 5989.0 SO:0001587 stop_gained CCDS47688.1 7q31.1 2007-08-07 ENSG00000128512 ENSG00000128512 9732.0 9732.0 19192.0 protein-coding gene gene with protein product 607679.0 12432077, 12628187 Standard NM_014705 XM_006716188 Approved FLJ34238, KIAA0716 uc003vfx.3 Q8N1I0 OTTHUMG00000155077 ENST00000437633.1:c.2620G>T 7.__UNKNOWN__:g.111484935C>A ENSP00000404179:p.Glu874* O14584|O94824|Q8NB45 __UNKNOWN__ CCDS47688.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 42|42 9.409225|9.409225 0.99163|0.99163 .|. .|. ENSG00000128512|ENSG00000128512 ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000423057;ENST00000445943 .|. .|. .|. 5.65|5.65 5.65|5.65 0.86999|0.86999 .|. 0.000000|. 0.85682|. D|. 0.000000|. .|T .|0.76666 .|0.4019 .|. .|. .|. 0.80722|0.80722 D|D 1|1 .|. .|. .|. .|. .|. .|. .|T .|0.73691 .|-0.3903 .|4 0.62326|. D|. 0.03|. .|. 19.9142|19.9142 0.97043|0.97043 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|. .|. .|. X|S 862;874;874;862;873|325;861 .|. ENSP00000345432:E862X|. E|R -|- 1|3 0|2 DOCK4|DOCK4 111272171|111272171 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 7.084000|7.084000 0.76866|0.76866 2.941000|2.941000 0.99782|0.99782 0.655000|0.655000 0.94253|0.94253 GAA|AGG DOCK4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000338369.4 - ENST00000437633.1 Nonsense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 DEPDC5 9681 broad.mit.edu 37 22 32164840 32164840 + Missense_Mutation SNP C C T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr22:32164840C>T ENST00000382112.3 + 6.0 474 c.404C>T c.(403-405)gCt>gTt p.A135V DEPDC5_ENST00000400242.3_Missense_Mutation_p.A135V|DEPDC5_ENST00000536766.1_Missense_Mutation_p.A107V|DEPDC5_ENST00000382111.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000382105.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000535622.1_Missense_Mutation_p.A135V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000400246.1_Missense_Mutation_p.A135V|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A135V|DEPDC5_ENST00000400248.2_Missense_Mutation_p.A135V NM_001136029.2|NM_001242896.1 NP_001129501.1|NP_001229825.1 O75140 DEPD5_HUMAN DEP domain containing 5 135.0 intracellular signal transduction (GO:0035556) cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471) GTPase activator activity (GO:0005096) 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) 63.0 GTGGAGTTTGCTGGCATCAGG 0.488 0 226.0 213.0 217.0 22 32164840.0 1953.0 4152.0 6105.0 SO:0001583 missense AB014545 CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1 22q12.3 2013-04-29 ENSG00000100150 ENSG00000100150 9681.0 9681.0 18423.0 protein-coding gene gene with protein product 614191.0 23542697, 23542701 Standard NM_014662 NM_001242896 Approved KIAA0645, DEP.5 uc011alu.2 O75140 OTTHUMG00000030926 ENST00000382112.3:c.404C>T 22.__UNKNOWN__:g.32164840C>T ENSP00000371546:p.Ala135Val A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13 __UNKNOWN__ CCDS46692.1 . . . . . . . . . . C 25.7 4.667570 0.88348 . . ENSG00000100150 ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248 T;T;T;T;T;T;T;T;T;T 0.44482 1.49;1.51;0.92;1.88;1.89;1.88;1.5;1.89;1.88;1.89 5.11 5.11 0.69529 . 0.000000 0.85682 D 0.000000 T 0.52549 0.1741 L 0.34521 1.04 0.80722 D 1 D;D;D;P;D;B 0.71674 0.998;0.998;0.982;0.888;0.998;0.34 D;D;P;P;D;B 0.80764 0.948;0.994;0.903;0.731;0.948;0.176 T 0.42155 -0.9468 10 0.27082 T 0.32 . 16.4014 0.83642 0.0:1.0:0.0:0.0 . 135;107;135;135;135;135 B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2 .;.;.;.;DEPD5_HUMAN;. V 135;107;135;135;135;135;135;135;135;135;135 ENSP00000440210:A135V;ENSP00000441358:A107V;ENSP00000383101:A135V;ENSP00000266091:A135V;ENSP00000383108:A135V;ENSP00000383105:A135V;ENSP00000371539:A135V;ENSP00000371546:A135V;ENSP00000371545:A135V;ENSP00000383107:A135V ENSP00000266091:A135V A + 2 0 DEPDC5 30494840 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 6.610000 0.74178 2.519000 0.84933 0.655000 0.94253 GCT DEPDC5-006 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000129087.1 + ENST00000382112.3 Missense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 EPX 8288 broad.mit.edu 37 17 56281693 56281693 + Missense_Mutation SNP G G C TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr17:56281693G>C ENST00000225371.5 + 12.0 2167 c.2057G>C c.(2056-2058)aGg>aCg p.R686T NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 686.0 defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753) extracellular vesicular exosome (GO:0070062) heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601) breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48.0 Melatonin(DB01065) ACGGTTTCAAGGGACATCTTC 0.512 0 110.0 96.0 101.0 17 56281693.0 2203.0 4300.0 6503.0 SO:0001583 missense M26515 CCDS11602.1 17q23.1 2006-09-25 ENSG00000121053 8288.0 8288.0 1.11.1.7 3423.0 protein-coding gene gene with protein product 131399.0 2550461, 2541222 Standard NM_000502 NM_000502 Approved EPO, EPP, EPX-PEN uc002ivq.3 P11678 ENST00000225371.5:c.2057G>C 17.__UNKNOWN__:g.56281693G>C ENSP00000225371:p.Arg686Thr Q4TVP3 __UNKNOWN__ CCDS11602.1 . . . . . . . . . . G 10.94 1.494198 0.26774 . . ENSG00000121053 ENST00000225371 T 0.68903 -0.36 5.62 3.64 0.41730 . 0.264861 0.41938 D 0.000786 T 0.71779 0.3380 M 0.69823 2.125 0.09310 N 1 P 0.45011 0.848 P 0.52031 0.688 T 0.61715 -0.7006 10 0.29301 T 0.29 -18.0962 10.5999 0.45360 0.1578:0.0:0.8422:0.0 . 686 P11678 PERE_HUMAN T 686 ENSP00000225371:R686T ENSP00000225371:R686T R + 2 0 EPX 53636692 0.000000 0.05858 0.342000 0.25602 0.889000 0.51656 -0.051000 0.11885 0.736000 0.32559 0.563000 0.77884 AGG EPX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000443367.1 + ENST00000225371.5 Missense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 TATDN2 9797 broad.mit.edu 37 3 10302293 10302293 + Missense_Mutation SNP A A C TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr3:10302293A>C ENST00000287652.4 + 3.0 1938 c.887A>C c.(886-888)gAc>gCc p.D296A RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.D296A NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 296.0 activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968) intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654) deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872) 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) 28.0 ACTGTCATTGACAAATGCTCT 0.473 0 87.0 89.0 89.0 3 10302293.0 2203.0 4300.0 6503.0 SO:0001583 missense D86972 CCDS33698.1 3p25.3 2010-11-24 ENSG00000157014 ENSG00000157014 9797.0 9797.0 28988.0 protein-coding gene gene with protein product 9039502 Standard XM_376203 NM_014760 Approved KIAA0218 uc003bvf.3 Q93075 OTTHUMG00000155361 ENST00000287652.4:c.887A>C 3.__UNKNOWN__:g.10302293A>C ENSP00000287652:p.Asp296Ala Q3MIL9|Q5BKU0 __UNKNOWN__ CCDS33698.1 . . . . . . . . . . A 12.99 2.102026 0.37048 . . ENSG00000157014 ENST00000287652;ENST00000448281 T;T 0.24908 1.83;1.83 5.15 5.15 0.70609 . 0.961376 0.08478 N 0.939991 T 0.23014 0.0556 L 0.44542 1.39 0.09310 N 0.999999 P 0.38922 0.651 B 0.30943 0.122 T 0.17592 -1.0364 10 0.72032 D 0.01 -10.5292 11.5386 0.50653 1.0:0.0:0.0:0.0 . 296 Q93075 TATD2_HUMAN A 296 ENSP00000287652:D296A;ENSP00000408736:D296A ENSP00000287652:D296A D + 2 0 TATDN2 10277293 0.408000 0.25360 0.037000 0.18230 0.538000 0.34931 2.011000 0.40922 2.288000 0.76882 0.533000 0.62120 GAC TATDN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000339641.1 + ENST00000287652.4 Missense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 ZNF106 64397 broad.mit.edu 37 15 42710149 42710149 + Splice_Site SNP A A T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr15:42710149A>T ENST00000565611.1 - 17.0 3313 c.3004T>A c.(3004-3006)Tgg>Agg p.W1002R ZNF106_ENST00000263805.4_Splice_Site_p.W1817R|ZNF106_ENST00000565380.1_Splice_Site_p.W1045R Q9H2Y7 ZN106_HUMAN zinc finger protein 106 1817.0 insulin receptor signaling pathway (GO:0008286) cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) CAACCATGCCACTGGAGAGAA 0.463 0 69.0 64.0 66.0 15 42710149.0 2203.0 4299.0 6502.0 SO:0001630 splice_region_variant AF205632 CCDS32208.1, CCDS61602.1, CCDS61603.1 15q15.1 2012-11-27 2012-11-27 ENSG00000103994 ENSG00000103994 64397.0 64397.0 """Zinc fingers, C2H2-type""" 12886.0 protein-coding gene gene with protein product """SH3-domain binding protein 3""" """zinc finger protein 106 homolog (mouse)""" ZFP106 Standard NM_022473 XM_005254591 Approved ZNF474, SH3BP3 uc001zpw.3 Q9H2Y7 OTTHUMG00000173244 ENST00000565611.1:c.3004-1T>A 15.__UNKNOWN__:g.42710149A>T B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8 __UNKNOWN__ . . . . . . . . . . A 26.1 4.705560 0.89018 . . ENSG00000103994 ENST00000263805;ENST00000434903 D 0.92299 -3.01 5.09 5.09 0.68999 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1); 0.000000 0.85682 D 0.000000 D 0.95427 0.8515 M 0.71206 2.165 0.80722 D 1 D;D;D 0.89917 0.999;1.0;0.999 D;D;D 0.87578 0.997;0.998;0.997 D 0.95778 0.8814 10 0.66056 D 0.02 -6.6125 15.0357 0.71744 1.0:0.0:0.0:0.0 . 1045;1817;1045 E9PE29;Q9H2Y7;B4DZ40 .;ZF106_HUMAN;. R 1817;1045 ENSP00000263805:W1817R ENSP00000263805:W1817R W - 1 0 ZFP106 40497441 1.000000 0.71417 1.000000 0.80357 0.918000 0.54935 8.742000 0.91588 2.136000 0.66102 0.460000 0.39030 TGG ZNF106-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000422589.2 Missense_Mutation - ENST00000565611.1 Splice_Site SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 SGSM1 129049 broad.mit.edu 37 22 25289433 25289433 + Silent SNP C C T TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr22:25289433C>T ENST00000400358.4 + 17.0 1863 c.1806C>T c.(1804-1806)acC>acT p.T602T SGSM1_ENST00000400359.4_Silent_p.T657T NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 657.0 Golgi apparatus (GO:0005794) Rab GTPase activator activity (GO:0005097) 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) 41.0 ATGCACAGACCATGGCTGAGT 0.652 0 34.0 37.0 36.0 22 25289433.0 2118.0 4231.0 6349.0 SO:0001819 synonymous_variant AB075821 CCDS46674.1, CCDS46675.1, CCDS74834.1 22q11.23 2013-07-09 2007-08-14 2007-08-14 ENSG00000167037 ENSG00000167037 129049.0 129049.0 """Small G protein signaling modulators""" 29410.0 protein-coding gene gene with protein product 611417.0 """RUN and TBC1 domain containing 2""" RUTBC2 11853319, 17509819, 22637480 Standard XM_059318 NM_133454 Approved KIAA1941 uc003abg.2 Q2NKQ1 OTTHUMG00000150837 ENST00000400358.4:c.1806C>T 22.__UNKNOWN__:g.25289433C>T A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60 __UNKNOWN__ CCDS46675.1 SGSM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320279.1 + ENST00000400358.4 Silent SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 USP9X 8239 broad.mit.edu 37 X 41012243 41012246 + Frame_Shift_Del DEL AATC AATC - TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chrX:41012243_41012246delAATC ENST00000378308.2 + 14.0 2439_2442 c.1806_1809delAATC c.(1804-1809)ttaatcfs p.LI602fs USP9X_ENST00000324545.8_Frame_Shift_Del_p.LI602fs Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 602.0 axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511) apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020) co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221) 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) 87.0 GCCATGACTTAATCAATCAACTTC 0.368 Ovarian(172;1807 2695 35459 49286) 0 SO:0001589 frameshift_variant X98296 CCDS43930.1, CCDS55403.1 Xp11.4 2010-08-03 2006-02-14 ENSG00000124486 ENSG00000124486 8239.0 8239.0 """Ubiquitin-specific peptidases""" 12632.0 protein-coding gene gene with protein product 300072.0 """ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)""" 8922996 Standard NM_004652 NM_001039590 Approved DFFRX, FAF uc004dfb.3 Q93008 OTTHUMG00000021367 ENST00000378308.2:c.1806_1809delAATC X.__UNKNOWN__:g.41012247_41012250delAATC ENSP00000367558:p.Leu602fs O75550|Q8WWT3|Q8WX12 __UNKNOWN__ CCDS55403.1 USP9X-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056248.2 + ENST00000378308.2 Frame_Shift_Del DEL PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 ZNF106 64397 broad.mit.edu 37 15 42710138 42710145 + Frame_Shift_Del DEL GCAACCAT GCAACCAT - TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr15:42710138_42710145delGCAACCAT ENST00000565611.1 - 17.0 3317_3324 c.3008_3015delATGGTTGC c.(3007-3015)catggttgcfs p.HGC1003fs ZNF106_ENST00000263805.4_Frame_Shift_Del_p.HGC1818fs|ZNF106_ENST00000565380.1_Frame_Shift_Del_p.HGC1046fs Q9H2Y7 ZN106_HUMAN zinc finger protein 106 1818.0 insulin receptor signaling pathway (GO:0008286) cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) ATATCAGAGAGCAACCATGCCACTGGAG 0.476 0 SO:0001589 frameshift_variant AF205632 CCDS32208.1, CCDS61602.1, CCDS61603.1 15q15.1 2012-11-27 2012-11-27 ENSG00000103994 ENSG00000103994 64397.0 64397.0 """Zinc fingers, C2H2-type""" 12886.0 protein-coding gene gene with protein product """SH3-domain binding protein 3""" """zinc finger protein 106 homolog (mouse)""" ZFP106 Standard NM_022473 XM_005254591 Approved ZNF474, SH3BP3 uc001zpw.3 Q9H2Y7 OTTHUMG00000173244 ENST00000565611.1:c.3008_3015delATGGTTGC 15.__UNKNOWN__:g.42710138_42710145delGCAACCAT ENSP00000457637:p.His1003fs B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8 __UNKNOWN__ ZNF106-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000422589.2 - ENST00000565611.1 Frame_Shift_Del DEL PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 IFNGR2 3460 broad.mit.edu 37 21 34799292 34799292 + Frame_Shift_Del DEL T T - TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr21:34799292delT ENST00000290219.6 + 4.0 1162 c.514delT c.(514-516)tttfs p.F173fs IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 173.0 Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}. cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615) endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) interferon-gamma receptor activity (GO:0004906) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13.0 Interferon gamma-1b(DB00033) CTCCACGGCCTTTTTTTGTTA 0.458 0 226.0 232.0 230.0 21 34799292.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant CCDS33544.1 21q22.1 2014-09-17 ENSG00000159128 ENSG00000159128 3460.0 3460.0 """Interferons"", ""Fibronectin type III domain containing""" 5440.0 protein-coding gene gene with protein product 147569.0 IFNGT1 3136170 Standard NM_005534 Approved AF-1 uc002yrp.4 P38484 OTTHUMG00000065188 ENST00000290219.6:c.514delT 21.__UNKNOWN__:g.34799292delT ENSP00000290219:p.Phe173fs Q9BTL5 __UNKNOWN__ CCDS33544.1 IFNGR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000139916.1 + ENST00000290219.6 Frame_Shift_Del DEL PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 OR10G4 390264 bcgsc.ca 37 11 123887115 123887115 + Silent SNP G G A TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr11:123887115G>A ENST00000320891.4 + 1.0 834 c.834G>A c.(832-834)ctG>ctA p.L278L NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 278.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48.0 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) ACACTGTGCTGACGCCCCTTC 0.473 0 109.0 94.0 99.0 11 123887115.0 2201.0 4299.0 6500.0 SO:0001819 synonymous_variant AB065757 CCDS31702.1 11q24.1 2012-08-09 ENSG00000254737 ENSG00000254737 390264.0 390264.0 """GPCR / Class A : Olfactory receptors""" 14809.0 protein-coding gene gene with protein product Standard NM_001004462 NM_001004462 Approved uc010sac.2 Q8NGN3 OTTHUMG00000165966 ENST00000320891.4:c.834G>A 11.__UNKNOWN__:g.123887115G>A Q6IEW0 __UNKNOWN__ CCDS31702.1 OR10G4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387268.1 + ENST00000320891.4 Silent SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 FGFR3 2261 ucsc.edu 37 4 1804693 1804693 + Missense_Mutation SNP T T A TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr4:1804693T>A ENST00000481110.2 + 8.0 1191 FGFR3_ENST00000440486.2_Intron|FGFR3_ENST00000260795.2_Intron|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000340107.4_Missense_Mutation_p.V328E|FGFR3_ENST00000474521.1_3'UTR P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762) cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091.0 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901) CTGGCCAATGTGTCGGAGCGG 0.677 1.0 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome Dom yes 4 4p16.3 2261.0 fibroblast growth factor receptor 3 yes """L, E""" 0 23.0 26.0 25.0 4 1804693.0 1563.0 3580.0 5143.0 SO:0001627 intron_variant Familial Cancer Database Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis M64347 CCDS3353.1, CCDS3354.1, CCDS54706.1 4p16.3 2013-01-11 2008-08-01 ENSG00000068078 ENSG00000068078 2261.0 2261.0 """CD molecules"", ""Immunoglobulin superfamily / I-set domain containing""" 3690.0 protein-coding gene gene with protein product 134934 """achondroplasia, thanatophoric dwarfism""" ACH 1847508 Standard NM_000142 NM_000142 Approved CEK2, JTK4, CD333 uc003gdu.2 P22607 OTTHUMG00000121148 ENST00000481110.2:c.931-726T>A 4.__UNKNOWN__:g.1804693T>A D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9 __UNKNOWN__ . . . . . . . . . . t 28.4 4.914142 0.92178 . . ENSG00000068078 ENST00000340107 T 0.72394 -0.65 4.08 4.08 0.47627 . . . . . D 0.90577 0.7046 H 0.99444 4.57 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 D 0.93923 0.7207 9 0.87932 D 0 . 13.2193 0.59877 0.0:0.0:0.0:1.0 . 328 P22607-2 . E 328 ENSP00000339824:V328E ENSP00000339824:V328E V + 2 0 FGFR3 1774491 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 5.660000 0.68018 1.719000 0.51432 0.533000 0.62120 GTG FGFR3-006 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000358204.2 + ENST00000481110.2 Intron SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 PDE2A 5138 ucsc.edu 37 11 72307681 72307681 + Missense_Mutation SNP G G A TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr11:72307681G>A ENST00000334456.5 - 6.0 690 c.445C>T c.(445-447)Ccg>Tcg p.P149S PDE2A_ENST00000418754.2_Intron|PDE2A_ENST00000540380.1_5'UTR|PDE2A_ENST00000444035.2_Missense_Mutation_p.P140S|PDE2A_ENST00000540345.1_Missense_Mutation_p.P140S|PDE2A_ENST00000544570.1_Missense_Mutation_p.P142S|PDE2A_ENST00000376450.3_Intron NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 149.0 blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626) axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734) calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911) breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36.0 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Caffeine(DB00201)|Tofisopam(DB08811) TCCGCTAGCGGCATGACCAGC 0.642 0 58.0 44.0 49.0 11 72307681.0 2200.0 4293.0 6493.0 SO:0001583 missense U67733 CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1 11q13.1-q14.1 2008-05-14 ENSG00000186642 ENSG00000186642 5138.0 5138.0 3.1.4.17 """Phosphodiesterases""" 8777.0 protein-coding gene gene with protein product 602658 9210593 Standard NM_002599 NM_002599 Approved uc010rrc.2 O00408 OTTHUMG00000102045 ENST00000334456.5:c.445C>T 11.__UNKNOWN__:g.72307681G>A ENSP00000334910:p.Pro149Ser B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1 __UNKNOWN__ CCDS8216.1 . . . . . . . . . . G 21.1 4.104499 0.77096 . . ENSG00000186642 ENST00000334456;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000540345;ENST00000538749 D;D;D;D;D 0.95447 -3.71;-3.71;-3.71;-3.71;-3.71 5.61 5.61 0.85477 . 0.635159 0.14847 N 0.294914 D 0.95878 0.8658 L 0.29908 0.895 0.34641 D 0.720633 D;D;D;D 0.76494 0.993;0.958;0.999;0.993 P;P;D;P 0.68943 0.777;0.549;0.961;0.777 D 0.97174 0.9846 10 0.72032 D 0.01 . 15.49 0.75597 0.0:0.0:1.0:0.0 . 149;140;142;149 O00408;E9PGI1;F6W5Z0;B2R646 PDE2A_HUMAN;.;.;. S 149;140;218;142;140;128 ENSP00000334910:P149S;ENSP00000411657:P140S;ENSP00000442256:P142S;ENSP00000446399:P140S;ENSP00000439683:P128S ENSP00000334910:P149S P - 1 0 PDE2A 71985329 1.000000 0.71417 1.000000 0.80357 0.914000 0.54420 5.083000 0.64456 2.813000 0.96785 0.655000 0.94253 CCG PDE2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000219839.2 - ENST00000334456.5 Missense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 CPQ 10404 unc.edu 37 8 98155344 98155344 + Missense_Mutation SNP C C G TCGA-QR-A70U-01A-11D-A35D-08 TCGA-QR-A70U-10A-01D-A35B-08 Untested Somatic Phase_I WXS;RNA-Seq none Illumina HiSeq 9a3547db-d8b6-4da9-9586-080cf4ade52e eeaad513-715a-4a3e-b710-a8a99aa281ae g.chr8:98155344C>G ENST00000220763.5 + 8.0 1562 c.1352C>G c.(1351-1353)gCt>gGt p.A451G NM_016134.2 NP_057218.1 Q9Y646 CBPQ_HUMAN carboxypeptidase Q 451.0 peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764) carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803) ATGAATGTTGCTGCTGCTGTT 0.438 0 169.0 157.0 161.0 8 98155344.0 2203.0 4300.0 6503.0 SO:0001583 missense AF107834 CCDS6273.1 8q22.2 2012-02-17 ENSG00000104324 ENSG00000104324 10404.0 10404.0 16910.0 protein-coding gene gene with protein product """lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase""" 10206990 Standard NM_016134 NM_016134 Approved LDP, PGCP uc003yhw.3 Q9Y646 OTTHUMG00000164690 ENST00000220763.5:c.1352C>G 8.__UNKNOWN__:g.98155344C>G ENSP00000220763:p.Ala451Gly B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6 __UNKNOWN__ CCDS6273.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 17.10|17.10 3.302990|3.302990 0.60195|0.60195 .|. .|. ENSG00000104324|ENSG00000104324 ENST00000220763|ENST00000522617 T|. 0.45276|. 0.9|. 5.93|5.93 5.0|5.0 0.66597|0.66597 .|. .|1.650600 .|0.03726 .|N .|0.252613 T|T 0.64283|0.64283 0.2584|0.2584 L|L 0.45352|0.45352 1.415|1.415 0.36360|0.36360 D|D 0.860638|0.860638 B|. 0.10296|. 0.003|. B|. 0.09377|. 0.004|. T|T 0.49579|0.49579 -0.8925|-0.8925 9|6 0.16896|. T|. 0.51|. -28.2229|-28.2229 13.5163|13.5163 0.61543|0.61543 0.0:0.7061:0.2939:0.0|0.0:0.7061:0.2939:0.0 .|. 451|. Q9Y646|. PGCP_HUMAN|. G|V 451|109 ENSP00000220763:A451G|. ENSP00000220763:A451G|. A|L +|+ 2|1 0|2 AC010859.1|AC010859.1 98224520|98224520 1.000000|1.000000 0.71417|0.71417 0.573000|0.573000 0.28510|0.28510 0.985000|0.985000 0.73830|0.73830 5.966000|5.966000 0.70395|0.70395 2.814000|2.814000 0.96858|0.96858 0.655000|0.655000 0.94253|0.94253 GCT|CTG CPQ-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000379757.2 + ENST00000220763.5 Missense_Mutation SNP PCPG-TCGA-QR-A70U-Normal-SM-5EQH8 C8orf37 157657 broad.mit.edu 37 8 96264494 96264494 + Missense_Mutation SNP C C T rs139137766 byFrequency TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr8:96264494C>T ENST00000286688.5 - 5.0 403 c.392G>A c.(391-393)cGt>cAt p.R131H NM_177965.3 NP_808880.1 Q96NL8 CH037_HUMAN chromosome 8 open reading frame 37 131.0 cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886) kidney(1)|large_intestine(1)|lung(5) 7.0 Breast(36;3.41e-05) GGCTATACAACGCAGATGGTC 0.328 C 1.0 0.0005 0.002 2184.0 1.0 , , 0.0003 0.0004 0.95 LOWCOV,EXOME 0.0004 SNP 0 C HIS/ARG 10,4396 16.8+/-37.8 0,10,2193 99.0 94.0 96.0 392 5.0 1.0 8 dbSNP_134 96.0 0,8600 0,0,4300 yes missense C8orf37 NM_177965.3 29 0,10,6493 TT,TC,CC 0.0,0.227,0.0769 probably-damaging 131/208 96264494.0 10,12996 2203.0 4300.0 6503.0 SO:0001583 missense AK055162 CCDS6268.1 8q22.1 2014-01-28 ENSG00000156172 ENSG00000156172 157657.0 157657.0 27232.0 protein-coding gene gene with protein product 614477.0 22177090 Standard NM_177965 NM_177965 Approved FLJ30600, CORD16, RP64 uc003yho.2 Q96NL8 OTTHUMG00000164663 ENST00000286688.5:c.392G>A 8.__UNKNOWN__:g.96264494C>T ENSP00000286688:p.Arg131His __UNKNOWN__ CCDS6268.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 C 16.19 3.052537 0.55218 0.00227 0.0 ENSG00000156172 ENST00000286688 D 0.87809 -2.3 4.98 4.98 0.66077 . 0.000000 0.85682 D 0.000000 D 0.93625 0.7964 M 0.83953 2.67 0.47547 D 0.999459 D 0.89917 1.0 D 0.66196 0.942 D 0.94497 0.7706 10 0.87932 D 0 -10.1524 18.6169 0.91305 0.0:1.0:0.0:0.0 . 131 Q96NL8 CH037_HUMAN H 131 ENSP00000286688:R131H ENSP00000286688:R131H R - 2 0 C8orf37 96333670 1.000000 0.71417 1.000000 0.80357 0.069000 0.16628 6.877000 0.75562 2.480000 0.83734 0.555000 0.69702 CGT C8orf37-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000379672.1 - ENST00000286688.5 Missense_Mutation SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY CCT6B 10693 broad.mit.edu 37 17 33269552 33269552 + Missense_Mutation SNP T T C TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr17:33269552T>C ENST00000314144.5 - 7.0 951 c.836A>G c.(835-837)gAc>gGc p.D279G CCT6B_ENST00000421975.3_Missense_Mutation_p.D242G|CCT6B_ENST00000436961.3_Missense_Mutation_p.D234G NM_006584.3 NP_006575.2 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B (zeta 2) 279.0 chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283) chaperonin-containing T-complex (GO:0005832) ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 20.0 Ovarian(249;0.17) ACAGACTTTGTCCTTCAGGTC 0.294 0 74.0 70.0 71.0 17 33269552.0 2203.0 4296.0 6499.0 SO:0001583 missense D78333 CCDS32617.1, CCDS54105.1, CCDS54106.1 17q 2011-09-02 ENSG00000132141 ENSG00000132141 10693.0 10693.0 """Heat Shock Proteins / Chaperonins""" 1621.0 protein-coding gene gene with protein product 610730.0 8812458, 9013858 Standard NM_006584 NM_006584 Approved Cctz2, TSA303 uc002hig.3 Q92526 ENST00000314144.5:c.836A>G 17.__UNKNOWN__:g.33269552T>C ENSP00000327191:p.Asp279Gly B4DX20|B4DYB0|Q8TC34 __UNKNOWN__ CCDS32617.1 . . . . . . . . . . T 12.57 1.977448 0.34848 . . ENSG00000132141 ENST00000421975;ENST00000314144;ENST00000436961 T;T;T 0.78364 -1.17;-1.17;-1.17 4.06 1.85 0.25348 . 0.577782 0.19827 N 0.105172 T 0.59972 0.2233 N 0.14661 0.345 0.20821 N 0.999841 B;B;B 0.13594 0.004;0.0;0.008 B;B;B 0.25987 0.045;0.005;0.065 T 0.54302 -0.8314 10 0.59425 D 0.04 -0.1507 6.7278 0.23367 0.0:0.2128:0.0:0.7872 . 234;242;279 B4DYB0;B4DX20;Q92526 .;.;TCPW_HUMAN G 242;279;234 ENSP00000398044:D242G;ENSP00000327191:D279G;ENSP00000400917:D234G ENSP00000327191:D279G D - 2 0 CCT6B 30293665 0.999000 0.42202 0.895000 0.35142 0.832000 0.47134 3.547000 0.53663 0.695000 0.31675 0.482000 0.46254 GAC CCT6B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000448014.1 - ENST00000314144.5 Missense_Mutation SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY BCHE 590 broad.mit.edu 37 3 165547533 165547533 + Missense_Mutation SNP G G A TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr3:165547533G>A ENST00000264381.3 - 2.0 1455 c.1289C>T c.(1288-1290)gCc>gTc p.A430V BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 430.0 cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271) blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641) acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802) breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55.0 Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116) GAACTCCAAGGCAGGGCATAT 0.438 0 92.0 99.0 97.0 3 165547533.0 2203.0 4300.0 6503.0 SO:0001583 missense M16541 CCDS3198.1 3q26.1-q26.2 2013-07-10 ENSG00000114200 ENSG00000114200 590.0 590.0 3.1.1.8 983.0 protein-coding gene gene with protein product 177400.0 """cholinesterase 1"", ""cholinesterase (serum) 2""" CHE1, CHE2 1769657, 2318303 Standard NM_000055 Approved E1 uc003fem.4 P06276 OTTHUMG00000158131 ENST00000264381.3:c.1289C>T 3.__UNKNOWN__:g.165547533G>A ENSP00000264381:p.Ala430Val A8K7P8 __UNKNOWN__ CCDS3198.1 . . . . . . . . . . G 0.013 -1.634635 0.00806 . . ENSG00000114200 ENST00000264381 D 0.95238 -3.65 5.46 4.58 0.56647 Carboxylesterase, type B (1); 0.403282 0.28338 N 0.015719 D 0.83571 0.5283 N 0.05330 -0.07 0.80722 D 1 B 0.14012 0.009 B 0.15484 0.013 T 0.76774 -0.2835 10 0.02654 T 1 . 9.1388 0.36890 0.1612:0.0:0.8388:0.0 . 430 P06276 CHLE_HUMAN V 430 ENSP00000264381:A430V ENSP00000264381:A430V A - 2 0 BCHE 167030227 0.001000 0.12720 0.914000 0.36105 0.244000 0.25665 1.348000 0.33987 2.570000 0.86706 0.591000 0.81541 GCC BCHE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350254.1 - ENST00000264381.3 Missense_Mutation SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY DNAI2 64446 broad.mit.edu 37 17 72285858 72285858 + Nonsense_Mutation SNP C C A TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr17:72285858C>A ENST00000311014.6 + 5.0 660 c.593C>A c.(592-594)tCa>tAa p.S198* DNAI2_ENST00000307504.5_Nonsense_Mutation_p.S55*|DNAI2_ENST00000582036.1_Nonsense_Mutation_p.S198*|DNAI2_ENST00000579490.1_Nonsense_Mutation_p.S255*|DNAI2_ENST00000446837.2_Nonsense_Mutation_p.S198* Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 198.0 cilium assembly (GO:0042384)|metabolic process (GO:0008152) axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874) microtubule motor activity (GO:0003777) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39.0 AGCAGCGATTCATACATCTGG 0.637 Kartagener syndrome 0 62.0 60.0 61.0 17 72285858.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome AF250288 CCDS11697.1, CCDS58589.1 17q25 2013-02-19 2006-09-04 ENSG00000171595 64446.0 64446.0 """Axonemal dyneins"", ""WD repeat domain containing""" 18744.0 protein-coding gene gene with protein product """dynein intermediate chain 2""" 605483.0 """dynein, axonemal, intermediate polypeptide 2""" 11153919, 21953912 Standard NM_023036 NM_023036 Approved CILD9, DIC2 uc002jkf.3 Q9GZS0 ENST00000311014.6:c.593C>A 17.__UNKNOWN__:g.72285858C>A ENSP00000308312:p.Ser198* C9J0S6|Q8IUW4|Q9H179|Q9NT53 __UNKNOWN__ CCDS11697.1 . . . . . . . . . . C 41 8.596512 0.98879 . . ENSG00000171595 ENST00000311014;ENST00000307504;ENST00000446837 . . . 4.81 4.81 0.61882 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -15.2476 17.857 0.88767 0.0:1.0:0.0:0.0 . . . . X 198;55;198 . ENSP00000302929:S55X S + 2 0 DNAI2 69797453 1.000000 0.71417 0.628000 0.29241 0.898000 0.52572 7.077000 0.76814 2.229000 0.72834 0.491000 0.48974 TCA DNAI2-001 KNOWN NMD_exception|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000442537.1 + ENST00000311014.6 Nonsense_Mutation SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY VPS54 51542 broad.mit.edu 37 2 64199342 64199342 + Missense_Mutation SNP G G C TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr2:64199342G>C ENST00000354504.3 - 2.0 653 c.64C>G c.(64-66)Cct>Gct p.P22A VPS54_ENST00000409558.4_Missense_Mutation_p.P127A|VPS54_ENST00000272322.4_Missense_Mutation_p.P139A Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) 139.0 growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147) GARP complex (GO:0000938) endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27.0 TCTTTAGGAGGACAAATATTC 0.289 0 76.0 74.0 74.0 2 64199342.0 2202.0 4292.0 6494.0 SO:0001583 missense AF102177 CCDS33208.1, CCDS46302.1 2p15-p14 2014-06-13 2006-12-19 ENSG00000143952 ENSG00000143952 51542.0 51542.0 18652.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 164""" 614633.0 """vacuolar protein sorting 54 (yeast)""" 12039048 Standard NM_016516 NM_016516 Approved HCC8, PPP1R164 uc002scq.3 Q9P1Q0 OTTHUMG00000152627 ENST00000354504.3:c.64C>G 2.__UNKNOWN__:g.64199342G>C ENSP00000346499:p.Pro22Ala Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0 __UNKNOWN__ . . . . . . . . . . G 16.69 3.193820 0.58017 . . ENSG00000143952 ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400 T;T;T 0.29655 1.56;1.56;1.56 5.66 5.66 0.87406 . 0.000000 0.85682 D 0.000000 T 0.28566 0.0707 L 0.51422 1.61 0.80722 D 1 B;B;B 0.27068 0.167;0.049;0.082 B;B;B 0.28011 0.053;0.039;0.085 T 0.05852 -1.0860 10 0.08599 T 0.76 . 16.0392 0.80651 0.0:0.0:0.8653:0.1347 . 22;139;127 Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4 .;VPS54_HUMAN;. A 22;139;127;127;139 ENSP00000346499:P22A;ENSP00000272322:P139A;ENSP00000386980:P127A ENSP00000272322:P139A P - 1 0 VPS54 64052846 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 6.685000 0.74543 2.682000 0.91365 0.555000 0.69702 CCT VPS54-003 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000327064.1 - ENST00000354504.3 Missense_Mutation SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY DKK3 27122 broad.mit.edu 37 11 12020296 12020296 + Missense_Mutation SNP A A T TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr11:12020296A>T ENST00000525493.1 - 4.0 539 c.382T>A c.(382-384)Ttt>Att p.F128I DKK3_ENST00000396505.2_Missense_Mutation_p.F128I|DKK3_ENST00000450094.2_Intron|DKK3_ENST00000326932.4_Missense_Mutation_p.F128I|DKK3_ENST00000527132.1_Intron Q9UBP4 DKK3_HUMAN dickkopf WNT signaling pathway inhibitor 3 128.0 adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055) extracellular space (GO:0005615) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1) 8.0 Epithelial(150;0.000502) GTCTCTGAAAAGACCATTTGT 0.418 0 199.0 174.0 182.0 11 12020296.0 2201.0 4294.0 6495.0 SO:0001583 missense AF177396 CCDS7808.1 11p15.3 2013-05-15 2013-05-15 ENSG00000050165 ENSG00000050165 27122.0 27122.0 2893.0 protein-coding gene gene with protein product """regulated in glioma""" 605416.0 """dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)""" 10570958 Standard NM_013253 XM_006718177 Approved REIC, RIG uc001mjv.3 Q9UBP4 OTTHUMG00000165709 ENST00000525493.1:c.382T>A 11.__UNKNOWN__:g.12020296A>T ENSP00000433112:p.Phe128Ile A8K1I2|D3DQW1|Q9ULB7 __UNKNOWN__ . . . . . . . . . . A 10.63 1.402864 0.25291 . . ENSG00000050165 ENST00000396505;ENST00000326932;ENST00000366345;ENST00000525493;ENST00000533813 T;T;T;T 0.20598 2.35;2.35;2.35;2.06 4.99 2.58 0.30949 . 0.444283 0.26103 N 0.026338 T 0.10380 0.0254 N 0.24115 0.695 0.58432 D 0.999991 P;B 0.39022 0.655;0.013 B;B 0.31191 0.125;0.004 T 0.13522 -1.0506 10 0.42905 T 0.14 -0.7928 6.5928 0.22656 0.6884:0.1672:0.0:0.1444 . 128;128 F6SYF8;Q9UBP4 .;DKK3_HUMAN I 128;128;71;128;128 ENSP00000379762:F128I;ENSP00000314910:F128I;ENSP00000433112:F128I;ENSP00000435269:F128I ENSP00000314910:F128I F - 1 0 DKK3 11976872 1.000000 0.71417 0.978000 0.43139 0.274000 0.26718 2.177000 0.42509 0.910000 0.36722 -0.336000 0.08194 TTT DKK3-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000385865.1 - ENST00000525493.1 Missense_Mutation SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY FBXO21 23014 broad.mit.edu 37 12 117595766 117595766 + Missense_Mutation SNP C C G TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr12:117595766C>G ENST00000330622.5 - 10.0 1449 c.1450G>C c.(1450-1452)Gag>Cag p.E484Q FBXO21_ENST00000427718.2_Missense_Mutation_p.E477Q O94952 FBX21_HUMAN F-box protein 21 484.0 protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511) ubiquitin ligase complex (GO:0000151) DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842) breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29.0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) CCCACCTCCTCCTTTTTGCGC 0.582 GBM(168;452 2038 13535 17701 43680) 0 230.0 202.0 212.0 12 117595766.0 2203.0 4300.0 6503.0 SO:0001583 missense AB020682 CCDS9184.1, CCDS44989.1 12q24.23 2004-06-15 2004-06-15 23014.0 23014.0 """F-boxes / ""other""""" 13592.0 protein-coding gene gene with protein product 609095.0 """F-box only protein 21""" 10048485, 10531035 Standard NM_033624 NM_033624 Approved FBX21, KIAA0875 uc001twk.3 O94952 OTTHUMG00000169495 ENST00000330622.5:c.1450G>C 12.__UNKNOWN__:g.117595766C>G ENSP00000328187:p.Glu484Gln B3KMF0|Q5BJG0|Q9H087 __UNKNOWN__ CCDS9184.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 18.37|18.37 3.609802|3.609802 0.66558|0.66558 .|. .|. ENSG00000135108|ENSG00000135108 ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622;ENST00000548840|ENST00000550180 T;T|. 0.46819|. 0.87;0.86|. 5.02|5.02 5.02|5.02 0.67125|0.67125 F-box domain, Skp2-like (1);|. 0.125479|. 0.56097|. D|. 0.000035|. T|T 0.53594|0.53594 0.1806|0.1806 N|N 0.19112|0.19112 0.55|0.55 0.51767|0.51767 D|D 0.999935|0.999935 P;B;P;P|. 0.51933|. 0.932;0.07;0.948;0.949|. P;B;P;P|. 0.51324|. 0.478;0.016;0.666;0.498|. T|T 0.48581|0.48581 -0.9023|-0.9023 10|5 0.36615|. T|. 0.2|. -14.1729|-14.1729 18.5372|18.5372 0.91014|0.91014 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 333;227;484;477|. Q8IUQ5;B3KQC8;O94952;O94952-1|. .;.;FBX21_HUMAN;.|. Q|A 477;393;333;484;136|360 ENSP00000414468:E477Q;ENSP00000328187:E484Q|. ENSP00000257563:E393Q|. E|G -|- 1|2 0|0 FBXO21|FBXO21 116080149|116080149 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 5.750000|5.750000 0.68712|0.68712 2.607000|2.607000 0.88179|0.88179 0.655000|0.655000 0.94253|0.94253 GAG|GGA FBXO21-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000404409.1 - ENST00000330622.5 Missense_Mutation SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY FGD6 55785 broad.mit.edu 37 12 95528532 95528532 + Missense_Mutation SNP T T C TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr12:95528532T>C ENST00000343958.4 - 8.0 3288 c.3065A>G c.(3064-3066)tAc>tGc p.Y1022C FGD6_ENST00000546711.1_Missense_Mutation_p.Y1022C|FGD6_ENST00000549499.1_Missense_Mutation_p.Y1022C NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 1022.0 DH. {ECO:0000255|PROSITE- ProRule:PRU00062}. actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726) guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267) 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) 56.0 CAACAGCCTGTACTGGGGGAT 0.517 0 56.0 49.0 52.0 12 95528532.0 2203.0 4300.0 6503.0 SO:0001583 missense AB037783 CCDS31878.1 12q23.1 2013-01-10 ENSG00000180263 55785.0 55785.0 """Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing""" 21740.0 protein-coding gene gene with protein product 613520.0 Standard NM_018351 NM_018351 Approved ZFYVE24, FLJ11183 uc001tdp.4 Q6ZV73 OTTHUMG00000170133 ENST00000343958.4:c.3065A>G 12.__UNKNOWN__:g.95528532T>C ENSP00000344446:p.Tyr1022Cys Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5 __UNKNOWN__ CCDS31878.1 . . . . . . . . . . T 23.0 4.357624 0.82243 . . ENSG00000180263 ENST00000343958;ENST00000546711;ENST00000549499 T;T;T 0.69306 -0.39;-0.39;-0.39 5.85 5.85 0.93711 Dbl homology (DH) domain (5); 0.000000 0.44285 D 0.000465 D 0.87641 0.6228 H 0.95850 3.73 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.81914 0.994;0.995 D 0.91507 0.5224 10 0.87932 D 0 -16.3465 16.2303 0.82332 0.0:0.0:0.0:1.0 . 1022;1022 Q6ZV73-2;Q6ZV73 .;FGD6_HUMAN C 1022 ENSP00000344446:Y1022C;ENSP00000450342:Y1022C;ENSP00000449005:Y1022C ENSP00000344446:Y1022C Y - 2 0 FGD6 94052663 1.000000 0.71417 1.000000 0.80357 0.977000 0.68977 7.625000 0.83145 2.233000 0.73108 0.533000 0.62120 TAC FGD6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407600.1 - ENST00000343958.4 Missense_Mutation SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY IQSEC2 23096 broad.mit.edu 37 X 53279664 53279664 + Silent SNP G G A TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chrX:53279664G>A ENST00000396435.3 - 5.0 2294 c.2094C>T c.(2092-2094)agC>agT p.S698S IQSEC2_ENST00000375365.2_Silent_p.S493S|IQSEC2_ENST00000375368.5_Silent_p.S688S NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 688.0 actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012) cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634) ARF guanyl-nucleotide exchange factor activity (GO:0005086) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29.0 AGCTCTCAAGGCTCTCGTTAT 0.617 0 77.0 57.0 64.0 X 53279664.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB011094 CCDS35298.1, CCDS48130.1 Xp11.23 2014-01-31 ENSG00000124313 ENSG00000124313 23096.0 23096.0 29059.0 protein-coding gene gene with protein product 300522.0 """mental retardation, X-linked 1 (non-dysmorphic)""" MRX1 9628581, 20473311 Standard XM_291345 NM_001243197 Approved KIAA0522 uc004dsd.3 Q5JU85 OTTHUMG00000021608 ENST00000396435.3:c.2094C>T X.__UNKNOWN__:g.53279664G>A B3KT97|C7SDG1|O60275|Q5JUX1 __UNKNOWN__ CCDS48130.1 IQSEC2-012 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000056743.2 - ENST00000396435.3 Silent SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY MRPL46 26589 broad.mit.edu 37 15 89010473 89010473 + Missense_Mutation SNP G G A TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr15:89010473G>A ENST00000312475.4 - 1.0 177 c.136C>T c.(136-138)Cgc>Tgc p.R46C NM_022163.3 NP_071446.2 Q9H2W6 RM46_HUMAN mitochondrial ribosomal protein L46 46.0 mitochondrion (GO:0005739)|ribosome (GO:0005840) hydrolase activity (GO:0016787) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5.0 Lung NSC(78;0.203) BRCA - Breast invasive adenocarcinoma(143;0.188) CCCAACAAGCGCCATGGGGAT 0.652 0 41.0 41.0 41.0 15 89010473.0 2201.0 4299.0 6500.0 SO:0001583 missense AF210056 CCDS10341.1 15q25.3 2012-10-08 2001-12-10 2001-12-14 ENSG00000259494 ENSG00000259494 26589.0 26589.0 """Mitochondrial ribosomal proteins / large subunits""" 1192.0 protein-coding gene gene with protein product 611851.0 """chromosome 15 open reading frame 4""" C15orf4 11761714, 11551941 Standard NM_022163 NM_022163 Approved LIECG2, P2ECSL uc002bmj.2 Q9H2W6 OTTHUMG00000148683 ENST00000312475.4:c.136C>T 15.__UNKNOWN__:g.89010473G>A ENSP00000312311:p.Arg46Cys B2RD75|Q9HBU8 __UNKNOWN__ CCDS10341.1 . . . . . . . . . . G 15.82 2.946674 0.53186 . . ENSG00000173867 ENST00000312475 T 0.45668 0.89 4.86 3.95 0.45737 . 0.327917 0.31976 N 0.006771 T 0.58581 0.2132 M 0.73962 2.25 0.58432 D 0.999996 D 0.89917 1.0 D 0.68621 0.959 T 0.59799 -0.7386 10 0.54805 T 0.06 . 7.9062 0.29763 0.086:0.0:0.7543:0.1597 . 46 Q9H2W6 RM46_HUMAN C 46 ENSP00000312311:R46C ENSP00000312311:R46C R - 1 0 MRPL46 86811477 0.986000 0.35501 0.992000 0.48379 0.273000 0.26683 1.280000 0.33202 1.264000 0.44198 0.655000 0.94253 CGC MRPL46-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000309073.1 - ENST00000312475.4 Missense_Mutation SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY PSG7 5676 broad.mit.edu 37 19 43441282 43441282 + RNA SNP T T A TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr19:43441282T>A ENST00000406070.2 - 0.0 43 PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy (GO:0007565) extracellular region (GO:0005576) Prostate(69;0.00682) GGATCCAGAATCTTCCTGAGC 0.597 0 41.0 45.0 44.0 19 43441282.0 692.0 1591.0 2283.0 19q13.2 2013-01-29 2010-02-26 ENSG00000221878 ENSG00000221878 5676.0 5676.0 """Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 9524.0 protein-coding gene gene with protein product 176396.0 """pregnancy specific beta-1-glycoprotein 7""" Standard NM_001206650 NM_002783 Approved uc010xwl.2 Q13046 OTTHUMG00000151125 ENST00000406070.2: 19.__UNKNOWN__:g.43441282T>A Q15232 __UNKNOWN__ PSG7-001 KNOWN basic polymorphic_pseudogene polymorphic_pseudogene OTTHUMT00000321431.2 - ENST00000406070.2 RNA SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY RNF17 56163 broad.mit.edu 37 13 25399864 25399864 + Silent SNP T T C TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr13:25399864T>C ENST00000255324.5 + 16.0 2251 c.2199T>C c.(2197-2199)tgT>tgC p.C733C RNF17_ENST00000381921.1_Silent_p.C733C NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 733.0 Tudor 1. {ECO:0000255|PROSITE- ProRule:PRU00211}. multicellular organismal development (GO:0007275)|spermatid development (GO:0007286) cytoplasm (GO:0005737)|nucleus (GO:0005634) hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36.0 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ATCAAGCCTGTGTAGCTAAAT 0.363 0 104.0 101.0 102.0 13 25399864.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF285602, AK001907 CCDS9308.2 13q12.13 2013-01-23 ENSG00000132972 ENSG00000132972 56163.0 56163.0 """RING-type (C3HC4) zinc fingers"", ""Tudor domain containing""" 10060.0 protein-coding gene gene with protein product """spermatogenesis associated 23""" 605793.0 """tudor domain containing 4""" TDRD4 11279525 Standard NM_031994 NM_001184993 Approved Mmip-2, SPATA23, FLJ11045 uc001upr.3 Q9BXT8 OTTHUMG00000016589 ENST00000255324.5:c.2199T>C 13.__UNKNOWN__:g.25399864T>C Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9 __UNKNOWN__ CCDS9308.2 RNF17-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044217.1 + ENST00000255324.5 Silent SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY PCDHB6 0 broad.mit.edu 37 5 140530109 140530109 + Missense_Mutation SNP C C T TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr5:140530109C>T ENST00000231136.1 + 1.0 271 c.271C>T c.(271-273)Cgg>Tgg p.R91W PCDHB6_ENST00000543635.1_5'UTR NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 91.0 Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}. calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) calcium ion binding (GO:0005509) 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) 84.0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAAACTGGACCGGGAGGAGCT 0.507 0 71.0 77.0 75.0 5 140530109.0 2203.0 4300.0 6503.0 SO:0001583 missense AF152499 CCDS4248.1 5q31 2010-01-26 ENSG00000113211 ENSG00000113211 56130.0 56130.0 """Cadherins / Protocadherins : Clustered""" 8691.0 other protocadherin 606332.0 10380929 Standard NM_018939 NM_018939 Approved PCDH-BETA6 uc003lir.3 Q9Y5E3 OTTHUMG00000129623 ENST00000231136.1:c.271C>T 5.__UNKNOWN__:g.140530109C>T ENSP00000231136:p.Arg91Trp B2R8R9 __UNKNOWN__ CCDS4248.1 . . . . . . . . . . C 11.02 1.514877 0.27123 . . ENSG00000113211 ENST00000231136 T 0.54071 0.59 4.97 3.14 0.36123 Cadherin, N-terminal (1);Cadherin (3); . . . . D 0.83510 0.5270 H 0.99555 4.625 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 D 0.88780 0.3270 9 0.87932 D 0 . 13.3638 0.60671 0.543:0.457:0.0:0.0 . 91 Q9Y5E3 PCDB6_HUMAN W 91 ENSP00000231136:R91W ENSP00000231136:R91W R + 1 2 PCDHB6 140510293 0.566000 0.26618 0.994000 0.49952 0.130000 0.20726 0.212000 0.17497 0.566000 0.29273 -0.314000 0.08810 CGG PCDHB6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251818.2 + ENST00000231136.1 Missense_Mutation SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY PCDHB4 0 broad.mit.edu 37 5 140502263 140502263 + Missense_Mutation SNP G G A TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr5:140502263G>A ENST00000194152.1 + 1.0 683 c.683G>A c.(682-684)cGa>cAa p.R228Q NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 228.0 Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}. calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67.0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTCATGGTTCGAATCCTGATC 0.537 0 130.0 120.0 123.0 5 140502263.0 2203.0 4300.0 6503.0 SO:0001583 missense AF152497 CCDS4246.1 5q31 2010-01-26 ENSG00000081818 ENSG00000081818 56131.0 56131.0 """Cadherins / Protocadherins : Clustered""" 8689.0 other protocadherin 606330.0 10380929 Standard NM_018938 NM_018938 Approved PCDH-BETA4 uc003lip.1 Q9Y5E5 OTTHUMG00000129617 ENST00000194152.1:c.683G>A 5.__UNKNOWN__:g.140502263G>A ENSP00000194152:p.Arg228Gln Q4V761 __UNKNOWN__ CCDS4246.1 . . . . . . . . . . G 6.363 0.435166 0.12045 . . ENSG00000081818 ENST00000194152 T 0.52754 0.65 4.31 -0.709 0.11237 Cadherin (4);Cadherin-like (1); . . . . T 0.34221 0.0890 L 0.28608 0.87 0.09310 N 1 B 0.15473 0.013 B 0.19391 0.025 T 0.25882 -1.0119 9 0.34782 T 0.22 . 11.0503 0.47882 0.5953:0.0:0.4047:0.0 . 228 Q9Y5E5 PCDB4_HUMAN Q 228 ENSP00000194152:R228Q ENSP00000194152:R228Q R + 2 0 PCDHB4 140482447 0.000000 0.05858 0.054000 0.19295 0.749000 0.42624 -3.184000 0.00567 -0.281000 0.09141 -0.781000 0.03364 CGA PCDHB4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251812.2 + ENST00000194152.1 Missense_Mutation SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY CYP11B1 0 broad.mit.edu 37 8 143961139 143961139 + Missense_Mutation SNP C C A TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr8:143961139C>A ENST00000377675.3 - 1.0 97 c.91G>T c.(91-93)Gtc>Ttc p.V31F CYP11B1_ENST00000292427.4_Missense_Mutation_p.V31F|CYP11B1_ENST00000517471.1_Missense_Mutation_p.V31F P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 31.0 aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805) mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507) 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) 67.0 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) Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421) GTCCTGGGGACCCGGGCGGCT 0.642 Familial Hyperaldosteronism type I 0 71.0 70.0 70.0 8 143961139.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database Dexamethasone Sensitive Aldosteronism, FH-I D16153 CCDS6392.1, CCDS34953.1 8q21-q22 2013-06-19 2003-01-14 ENSG00000160882 ENSG00000160882 1584.0 1.14.15.4 """Cytochrome P450s""" 2591.0 protein-coding gene gene with protein product """steroid 11-beta-monooxygenase""" 610613.0 """cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1""" CYP11B 1303253 Standard XM_005250807 Approved P450C11, FHI, CPN1 uc003yxi.3 P15538 OTTHUMG00000164637 ENST00000377675.3:c.91G>T 8.__UNKNOWN__:g.143961139C>A ENSP00000366903:p.Val31Phe Q14095|Q4VAQ8|Q4VAQ9|Q9UML2 __UNKNOWN__ . . . . . . . . . . C 9.651 1.141469 0.21205 . . ENSG00000160882 ENST00000292427;ENST00000517471;ENST00000377675 T;D;T 0.83914 -1.0;-1.78;-1.08 2.96 -0.279 0.12890 . 0.844623 0.09777 N 0.757221 T 0.64227 0.2579 N 0.08118 0 0.09310 N 1 B;B;B 0.26512 0.151;0.008;0.082 B;B;B 0.29942 0.109;0.003;0.05 T 0.55127 -0.8189 10 0.62326 D 0.03 . 2.9415 0.05831 0.2136:0.5148:0.0:0.2716 . 31;31;31 Q4VAR0;Q4VAQ9;P15538 .;.;C11B1_HUMAN F 31 ENSP00000292427:V31F;ENSP00000428043:V31F;ENSP00000366903:V31F ENSP00000292427:V31F V - 1 0 CYP11B1 143958141 0.000000 0.05858 0.000000 0.03702 0.013000 0.08279 0.024000 0.13555 -0.239000 0.09710 0.305000 0.20034 GTC CYP11B1-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000379655.1 - ENST00000377675.3 Missense_Mutation SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY PCMTD1 115294 broad.mit.edu 37 8 52732912 52732912 + Nonstop_Mutation SNP T T G TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr8:52732912T>G ENST00000360540.5 - 7.0 1479 c.1073A>C c.(1072-1074)tAa>tCa p.*358S PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Nonstop_Mutation_p.*358S|PCMTD1_ENST00000544451.1_Nonstop_Mutation_p.*282S NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 0.0 cytoplasm (GO:0005737) protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37.0 Lung NSC(129;0.0795)|all_lung(136;0.144) TGATCTAAGTTATTTGTCTCT 0.338 0 35.0 35.0 35.0 8 52732912.0 2199.0 4298.0 6497.0 SO:0001578 stop_lost CCDS6148.1, CCDS69480.1 8q11.23 2010-08-05 ENSG00000168300 ENSG00000168300 115294.0 115294.0 30483.0 protein-coding gene gene with protein product Standard NM_052937 XM_005251146 Approved FLJ10883 uc003xqx.4 Q96MG8 OTTHUMG00000164246 ENST00000360540.5:c.1073A>C 8.__UNKNOWN__:g.52732912T>G Q96FK9 __UNKNOWN__ CCDS6148.1 . . . . . . . . . . T 19.34 3.809016 0.70797 . . ENSG00000168300 ENST00000360540;ENST00000544451;ENST00000522514 . . . 6.07 6.07 0.98685 . . . . . . . . . . . 0.09310 N 1 . . . . . . . . . . . . . . 10.8996 0.47043 0.0:0.0695:0.0:0.9305 . . . . S 358;282;358 . . X - 2 2 PCMTD1 52895465 1.000000 0.71417 0.995000 0.50966 0.910000 0.53928 4.327000 0.59247 2.326000 0.78906 0.533000 0.62120 TAA PCMTD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000377909.2 - ENST00000360540.5 Nonstop_Mutation SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY NF1 4763 broad.mit.edu 37 17 29653263 29653263 + Frame_Shift_Del DEL C C - TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr17:29653263delC ENST00000358273.4 + 37.0 5644 c.5261delC c.(5260-5262)tctfs p.S1754fs NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Del_p.S1733fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1754.0 Lipid binding. actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060) axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634) phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099) 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) 599.0 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) ACCAAAGTTTCTATTAAAGTA 0.423 """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) yes Rec yes Neurofibromatosis type 1 17 17q12 4763.0 neurofibromatosis type 1 gene O 11 Whole gene deletion(8)|Unknown(3) soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1) 59.0 56.0 57.0 17 29653263.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant Familial Cancer Database NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome CCDS11264.1, CCDS42292.1, CCDS45645.1 17q11.2 2014-09-17 2008-07-31 ENSG00000196712 ENSG00000196712 4763.0 4763.0 7765.0 protein-coding gene gene with protein product """neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease""" 613113.0 1715669 Standard NM_000267 NM_000267 Approved uc002hgg.3 P21359 OTTHUMG00000132871 ENST00000358273.4:c.5261delC 17.__UNKNOWN__:g.29653263delC ENSP00000351015:p.Ser1754fs O00662|Q14284|Q14930|Q14931|Q9UMK3 __UNKNOWN__ CCDS42292.1 NF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256351.2 + ENST00000358273.4 Frame_Shift_Del DEL PCPG-TCGA-QR-A70V-Normal-SM-5EQEY HSPG2 3339 broad.mit.edu 37 1 22207315 22207315 + Frame_Shift_Del DEL C C - TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr1:22207315delC ENST00000374695.3 - 15.0 1911 c.1832delG c.(1831-1833)ggcfs p.G612fs NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 612.0 Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}. angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) 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) 127.0 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) Palifermin(DB00039) CAGGGAGCCGCCATAGGAGTC 0.637 0 26.0 27.0 26.0 1 22207315.0 2191.0 4282.0 6473.0 SO:0001589 frameshift_variant M85289 CCDS30625.1 1p36.1-p35 2013-01-29 2007-02-16 2007-02-16 ENSG00000142798 ENSG00000142798 3339.0 3339.0 """Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 5273.0 protein-coding gene gene with protein product """perlecan proteoglycan""" 142461.0 """Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)""" SJS1 1685141, 11941538 Standard NM_005529 XM_005245863 Approved perlecan, PRCAN uc001bfj.3 P98160 OTTHUMG00000002674 ENST00000374695.3:c.1832delG 1.__UNKNOWN__:g.22207315delC ENSP00000363827:p.Gly612fs Q16287|Q5SZI3|Q9H3V5 __UNKNOWN__ CCDS30625.1 HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007598.1 - ENST00000374695.3 Frame_Shift_Del DEL PCPG-TCGA-QR-A70V-Normal-SM-5EQEY SH3KBP1 30011 bcgsc.ca 37 X 19606775 19606775 + Silent SNP C C T rs145308311 byFrequency TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chrX:19606775C>T ENST00000397821.3 - 12.0 1574 c.1284G>A c.(1282-1284)ccG>ccA p.P428P SH3KBP1_ENST00000379716.1_Silent_p.P190P|SH3KBP1_ENST00000379698.4_Silent_p.P391P|SH3KBP1_ENST00000379697.3_Silent_p.P472P|SH3KBP1_ENST00000541422.1_Silent_p.P167P NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 428.0 Pro-rich. apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360) cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202) breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29.0 TGTGTGTCAGCGGACCCACCG 0.622 c 9.0 0.01 0.02 0.01 1659.0 1.0 , , 0.0002 0.0055 1.0 LOWCOV,EXOME 0.0009 SNP 0 T ,, 38,3797 2,32,2,1598,569 110.0 104.0 106.0 1173,570,1284 -5.7 0.6 X dbSNP_134 106.0 0,6728 0,0,0,2428,1872 no coding-synonymous,coding-synonymous,coding-synonymous SH3KBP1 NM_001024666.2,NM_001184960.1,NM_031892.2 ,, 2,32,2,4026,2441 TT,TC,T,CC,C 0.0,0.9909,0.3597 ,, 391/629,190/428,428/666 19606775.0 38,10525 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF230904 CCDS14193.1, CCDS35213.1, CCDS55383.1 Xp22.1-p21.3 2008-02-05 ENSG00000147010 ENSG00000147010 30011.0 30011.0 13867.0 protein-coding gene gene with protein product 300374 8889549, 7566098 Standard NM_031892 NM_031892 Approved CIN85 uc004czm.3 Q96B97 OTTHUMG00000021227 ENST00000397821.3:c.1284G>A X.__UNKNOWN__:g.19606775C>T B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0 __UNKNOWN__ CCDS14193.1 SH3KBP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055992.1 - ENST00000397821.3 Silent SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY MYT1L 23040 ucsc.edu 37 2 1915829 1915829 + Missense_Mutation SNP G G A TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr2:1915829G>A ENST00000428368.2 - 12.0 2335 c.1666C>T c.(1666-1668)Cgc>Tgc p.R556C MYT1L_ENST00000399161.2_Missense_Mutation_p.R558C Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 558.0 cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) 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) 97.0 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) ACATGCCCGCGCCCCGTGCAG 0.592 0 46.0 48.0 47.0 2 1915829.0 2050.0 4220.0 6270.0 SO:0001583 missense AF036943 CCDS46222.1 2p25.3 2013-01-10 ENSG00000186487 ENSG00000186487 23040.0 23040.0 """Zinc fingers, C2HC-type containing""" 7623.0 protein-coding gene gene with protein product """neural zinc finger transcription factor 1""" 613084 9373037 Standard NM_015025 XM_006711862 Approved KIAA1106, NZF1, ZC2HC4B uc002qxd.3 Q9UL68 OTTHUMG00000151407 ENST00000428368.2:c.1666C>T 2.__UNKNOWN__:g.1915829G>A ENSP00000396103:p.Arg556Cys A7E2C7|B2RP54|Q6IQ17|Q9UPP6 __UNKNOWN__ CCDS46222.1 . . . . . . . . . . G 22.6 4.306352 0.81247 . . ENSG00000186487 ENST00000399161;ENST00000295067;ENST00000428368 T;T 0.57436 0.4;0.4 5.24 4.3 0.51218 . 0.000000 0.85682 D 0.000000 T 0.68568 0.3015 M 0.65975 2.015 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.78314 0.991;0.988 T 0.71567 -0.4554 10 0.87932 D 0 -14.8821 12.8692 0.57955 0.0:0.0:0.7164:0.2836 . 558;556 Q9UL68;Q9UL68-4 MYT1L_HUMAN;. C 558;504;556 ENSP00000382114:R558C;ENSP00000396103:R556C ENSP00000295067:R504C R - 1 0 MYT1L 1894836 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 5.281000 0.65609 2.595000 0.87683 0.561000 0.74099 CGC MYT1L-013 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000377210.1 - ENST00000428368.2 Missense_Mutation SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY REXO1 57455 ucsc.edu 37 19 1819991 1819991 + Silent SNP G G A TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr19:1819991G>A ENST00000170168.4 - 7.0 2686 c.2592C>T c.(2590-2592)gcC>gcT p.A864A NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 864.0 nucleus (GO:0005634) exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16.0 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGTGTTCACGGCCACATTCA 0.667 0 G 1,4405 2.1+/-5.4 0,1,2202 40.0 38.0 38.0 2592 -5.1 0.1 19 38.0 0,8600 0,0,4300 no coding-synonymous REXO1 NM_020695.3 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 864/1222 1819991.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB032964 CCDS32866.1 19p13.3 2014-05-28 2005-08-22 2005-08-22 ENSG00000079313 ENSG00000079313 57455.0 57455.0 24616.0 protein-coding gene gene with protein product """elongin A binding protein 1""" 609614 """transcription elongation factor B polypeptide 3 binding protein 1""" TCEB3BP1 10574461 Standard NM_020695 NM_020695 Approved EloA-BP1, KIAA1138 uc002lua.4 Q8N1G1 OTTHUMG00000179991 ENST00000170168.4:c.2592C>T 19.__UNKNOWN__:g.1819991G>A Q9ULT2 __UNKNOWN__ CCDS32866.1 REXO1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000449200.1 - ENST00000170168.4 Silent SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY MUSK 4593 hgsc.bcm.edu 37 9 113538102 113538102 + Missense_Mutation SNP G G A TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr9:113538102G>A ENST00000189978.5 + 9.0 1353 c.1219G>A c.(1219-1221)Gca>Aca p.A407T MUSK_ENST00000374438.1_5'UTR|MUSK_ENST00000416899.2_Missense_Mutation_p.A407T|MUSK_ENST00000374448.4_Missense_Mutation_p.A407T O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 407.0 FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}. cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235) ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49.0 GCTCTTCTGCGCAAAAGAATG 0.438 0 81.0 80.0 81.0 9 113538102.0 1878.0 4112.0 5990.0 SO:0001583 missense AF006464 CCDS48005.1, CCDS75874.1 9q31.3-q32 2013-01-29 ENSG00000030304 ENSG00000030304 4593.0 4593.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 7525.0 protein-coding gene gene with protein product 601296 7546737 Standard NM_005592 Approved uc022blv.1 O15146 OTTHUMG00000020485 ENST00000189978.5:c.1219G>A 9.__UNKNOWN__:g.113538102G>A ENSP00000189978:p.Ala407Thr Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8 __UNKNOWN__ . . . . . . . . . . G 12.62 1.991803 0.35131 . . ENSG00000030304 ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899 T 0.76186 -1.0 5.63 4.67 0.58626 Frizzled domain (2); 0.309429 0.35407 N 0.003227 T 0.60766 0.2294 L 0.36672 1.1 0.80722 D 1 B 0.30179 0.271 B 0.21917 0.037 T 0.56577 -0.7956 10 0.22706 T 0.39 . 11.925 0.52814 0.0:0.0:0.7007:0.2992 . 407 O15146 MUSK_HUMAN T 413;407;407;329;329;413 ENSP00000363571:A407T ENSP00000189978:A413T A + 1 0 MUSK 112577923 1.000000 0.71417 1.000000 0.80357 0.978000 0.69477 2.818000 0.48041 2.805000 0.96524 0.655000 0.94253 GCA MUSK-001 PUTATIVE non_canonical_TEC|basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000053627.2 + ENST00000189978.5 Missense_Mutation SNP PCPG-TCGA-QR-A70V-Normal-SM-5EQEY SAG 6295 broad.mit.edu 37 2 234243689 234243689 + Silent SNP C C T TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr2:234243689C>T ENST00000409110.1 + 11.0 1118 c.888C>T c.(886-888)ggC>ggT p.G296G SAG_ENST00000449594.2_Silent_p.G162G NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 296.0 cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601) cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750) protein phosphatase inhibitor activity (GO:0004864) cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9.0 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) AAAGGAGAGGCATTGCCCTGG 0.542 0 79.0 85.0 83.0 2 234243689.0 2173.0 4284.0 6457.0 SO:0001819 synonymous_variant CCDS46545.1 2q37.1 2013-02-14 ENSG00000130561 ENSG00000130561 6295.0 6295.0 10521.0 protein-coding gene gene with protein product """arrestin 1""" 181031.0 2249983 Standard NM_000541 NM_000541 Approved ARRESTIN, RP47 uc002vuh.2 P10523 OTTHUMG00000153213 ENST00000409110.1:c.888C>T 2.__UNKNOWN__:g.234243689C>T A0FDN6|Q53SV3|Q99858 __UNKNOWN__ CCDS46545.1 SAG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000330126.1 + ENST00000409110.1 Silent SNP PCPG-TCGA-QR-A70W-Normal-SM-5EQF6 PLEKHG4B 153478 broad.mit.edu 37 5 162009 162009 + Missense_Mutation SNP A A G TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr5:162009A>G ENST00000283426.6 + 10.0 1581 c.1531A>G c.(1531-1533)Agg>Ggg p.R511G NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 511.0 Rho guanyl-nucleotide exchange factor activity (GO:0005089) endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11.0 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GGCTGAGTGCAGGGAGGGAGA 0.632 0 82.0 70.0 74.0 5 162009.0 2203.0 4300.0 6503.0 SO:0001583 missense BC008352 CCDS34124.1 5p15.33 2013-01-11 ENSG00000153404 ENSG00000153404 153478.0 153478.0 """Pleckstrin homology (PH) domain containing""" 29399.0 protein-coding gene gene with protein product 11572484 Standard NM_052909 NM_052909 Approved KIAA1909 uc003jak.2 Q96PX9 OTTHUMG00000161570 ENST00000283426.6:c.1531A>G 5.__UNKNOWN__:g.162009A>G ENSP00000283426:p.Arg511Gly __UNKNOWN__ CCDS34124.1 . . . . . . . . . . A 8.792 0.930784 0.18131 . . ENSG00000153404 ENST00000283426 D 0.92446 -3.04 2.59 -0.344 0.12628 . . . . . D 0.86083 0.5848 L 0.58101 1.795 0.09310 N 1 P 0.43477 0.808 B 0.39027 0.288 T 0.74497 -0.3646 9 0.21540 T 0.41 . 3.0878 0.06284 0.5972:0.249:0.1538:0.0 . 511 Q96PX9 PKH4B_HUMAN G 511 ENSP00000283426:R511G ENSP00000283426:R511G R + 1 2 PLEKHG4B 215009 0.115000 0.22152 0.000000 0.03702 0.002000 0.02628 0.295000 0.19065 -0.340000 0.08388 -0.556000 0.04195 AGG PLEKHG4B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000365359.1 + ENST00000283426.6 Missense_Mutation SNP PCPG-TCGA-QR-A70W-Normal-SM-5EQF6 PTCHD4 442213 broad.mit.edu 37 6 48036151 48036151 + Missense_Mutation SNP C C T TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr6:48036151C>T ENST00000339488.4 - 1.0 274 c.241G>A c.(241-243)Gcc>Acc p.A81T PTCHD4_ENST00000543600.1_Missense_Mutation_p.A64T NM_001013732.3 NP_001013754.3 Q6ZW05 PTHD4_HUMAN patched domain containing 4 81.0 integral component of membrane (GO:0016021) hedgehog receptor activity (GO:0008158) TCGATCTTGGCCAGGCTGTGG 0.652 0 47.0 53.0 51.0 6 48036151.0 1972.0 4150.0 6122.0 SO:0001583 missense CCDS34473.2 6p12.3 2012-02-06 2012-02-06 2012-02-06 ENSG00000244694 ENSG00000244694 442213.0 442213.0 21345.0 protein-coding gene gene with protein product """chromosome 6 open reading frame 138""" C6orf138 Standard NM_001013732 NM_001013732 Approved dJ402H5.2, FLJ41841 uc011dwm.2 Q6ZW05 OTTHUMG00000150404 ENST00000339488.4:c.241G>A 6.__UNKNOWN__:g.48036151C>T ENSP00000341914:p.Ala81Thr B0QZ29|B4DRK3|Q5T884 __UNKNOWN__ CCDS34473.2 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 18.70|18.70 3.679259|3.679259 0.68042|0.68042 .|. .|. ENSG00000244694|ENSG00000244694 ENST00000339488;ENST00000543600|ENST00000398738 D;T|. 0.94280|. -3.39;0.19|. 4.88|4.88 4.88|4.88 0.63580|0.63580 .|. 0.060335|. 0.64402|. D|. 0.000005|. T|T 0.68897|0.68897 0.3051|0.3051 M|M 0.71036|0.71036 2.16|2.16 0.80722|0.80722 D|D 1|1 D;D|. 0.89917|. 1.0;0.993|. D;D|. 0.80764|. 0.994;0.984|. T|T 0.69503|0.69503 -0.5128|-0.5128 10|5 0.62326|. D|. 0.03|. .|. 18.0082|18.0082 0.89215|0.89215 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 81;64|. Q6ZW05;B0QZ29|. CF138_HUMAN;.|. T|D 81;64|80 ENSP00000341914:A81T;ENSP00000439864:A64T|. ENSP00000341914:A81T|. A|G -|- 1|2 0|0 C6orf138|C6orf138 48144110|48144110 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.994000|0.994000 0.84299|0.84299 7.394000|7.394000 0.79862|0.79862 2.237000|2.237000 0.73441|0.73441 0.563000|0.563000 0.77884|0.77884 GCC|GGC PTCHD4-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317987.2 - ENST00000339488.4 Missense_Mutation SNP PCPG-TCGA-QR-A70W-Normal-SM-5EQF6 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr11:533874T>C ENST00000451590.1 - 3.0 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R NM_001130442.1|NM_005343.2 NP_001123914.1|NP_005334.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61.0 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022) p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901.0 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6.0 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) yes Dom yes Costello syndrome 11 11p15.5 3265.0 v-Ha-ras Harvey rat sarcoma viral oncogene homolog """E, L, M""" 256 Substitution - Missense(256) skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1) 117.0 102.0 107.0 11 533874.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Facio-Cutaneous-Skeletal syndrome AJ437024 CCDS7698.1, CCDS7699.1 11p15.5 2014-09-17 2013-07-08 ENSG00000174775 ENSG00000174775 3265.0 3265.0 5173.0 protein-coding gene gene with protein product 190020.0 """v-Ha-ras Harvey rat sarcoma viral oncogene homolog""" HRAS1 Standard NM_176795 NM_176795 Approved uc010qvx.2 P01112 OTTHUMG00000131919 ENST00000451590.1:c.182A>G 11.__UNKNOWN__:g.533874T>C ENSP00000407586:p.Gln61Arg B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2 __UNKNOWN__ CCDS7698.1 . . . . . . . . . . T 14.48 2.546606 0.45383 . . ENSG00000174775 ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189 D;D;D;D;D 0.83673 -1.75;-1.75;-1.75;-1.75;-1.75 3.64 3.64 0.41730 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85613 0.5737 M 0.90870 3.155 0.80722 D 1 B;B 0.21071 0.051;0.008 B;B 0.22152 0.022;0.038 D 0.85970 0.1476 10 0.66056 D 0.02 . 11.8872 0.52608 0.0:0.0:0.0:1.0 . 61;61 P01112-2;P01112 .;RASH_HUMAN R 61 ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R ENSP00000309845:Q61R Q - 2 0 HRAS 523874 1.000000 0.71417 0.985000 0.45067 0.482000 0.33219 7.727000 0.84838 1.662000 0.50781 0.459000 0.35465 CAG HRAS-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259403.2 - ENST00000451590.1 Missense_Mutation SNP PCPG-TCGA-QR-A70W-Normal-SM-5EQF6 PI3 5266 broad.mit.edu 37 20 43804501 43804501 + Splice_Site SNP G G A TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr20:43804501G>A ENST00000243924.3 + 2.0 126 c.e2-1 NM_002638.3 NP_002629.1 P19957 ELAF_HUMAN peptidase inhibitor 3, skin-derived copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951) extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867) large_intestine(1)|lung(5)|skin(1) 7.0 Myeloproliferative disorder(115;0.0122) TCTTTTAACAGTTCCTGTTAA 0.448 0 84.0 81.0 82.0 20 43804501.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant D13156 CCDS13344.1 20q13.12 2013-01-21 2008-10-03 ENSG00000124102 ENSG00000124102 5266.0 5266.0 """WAP four-disulfide core domain containing""" 8947.0 protein-coding gene gene with protein product """skin-derived antileukoproteinase"", ""trappin-2""" 182257.0 """protease inhibitor 3, skin-derived (SKALP)""" 8287685, 12206714 Standard NM_002638 NM_002638 Approved ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin uc002xng.3 P19957 OTTHUMG00000032567 ENST00000243924.3:c.80-1G>A 20.__UNKNOWN__:g.43804501G>A E1P618|Q6FG74 __UNKNOWN__ CCDS13344.1 . . . . . . . . . . G 11.02 1.517264 0.27123 . . ENSG00000124102 ENST00000243924 . . . 3.78 2.81 0.32909 . . . . . . . . . . . 0.24368 N 0.994842 . . . . . . . . . . . . . . 9.4187 0.38536 0.0:0.2169:0.7831:0.0 . . . . . -1 . . . + . . PI3 43237915 0.011000 0.17503 0.030000 0.17652 0.318000 0.28184 0.785000 0.26830 1.153000 0.42468 0.655000 0.94253 . PI3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079418.3 Intron + ENST00000243924.3 Splice_Site SNP PCPG-TCGA-QR-A70W-Normal-SM-5EQF6 KIAA1958 158405 broad.mit.edu 37 9 115421618 115421627 + Frame_Shift_Del DEL CTGGCCACCT CTGGCCACCT - TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr9:115421618_115421627delCTGGCCACCT ENST00000337530.6 + 4.0 1716_1725 c.1420_1429delCTGGCCACCT c.(1420-1431)ctggccacctcgfs p.LATS474fs KIAA1958_ENST00000536272.1_Frame_Shift_Del_p.LATS502fs NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 474.0 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25.0 CTCGGACTTCCTGGCCACCTCGCTCCATGC 0.543 0 SO:0001589 frameshift_variant AB075838 CCDS35108.1, CCDS69642.1 9q33.1 2009-09-22 ENSG00000165185 ENSG00000165185 158405.0 158405.0 23427.0 protein-coding gene gene with protein product Standard NM_133465 NM_001287038 Approved FLJ39294 uc004bgf.1 Q8N8K9 OTTHUMG00000020508 ENST00000337530.6:c.1420_1429delCTGGCCACCT 9.__UNKNOWN__:g.115421618_115421627delCTGGCCACCT ENSP00000336940:p.Leu474fs B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02 __UNKNOWN__ CCDS35108.1 KIAA1958-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000053690.1 + ENST00000337530.6 Frame_Shift_Del DEL PCPG-TCGA-QR-A70W-Normal-SM-5EQF6 ATG14 22863 ucsc.edu 37 14 55864143 55864143 + Silent SNP G G A TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr14:55864143G>A ENST00000247178.5 - 2.0 266 c.231C>T c.(229-231)gaC>gaT p.D77D NM_014924.4 NP_055739.2 Q6ZNE5 BAKOR_HUMAN autophagy related 14 77.0 autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508) autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2) 13.0 TTTCCTTCTTGTCGATAAACC 0.338 0 122.0 103.0 109.0 14 55864143.0 2202.0 4299.0 6501.0 SO:0001819 synonymous_variant AB020638 CCDS32087.1 14q22.2 2014-02-12 2012-06-06 2010-06-29 ENSG00000126775 ENSG00000126775 22863.0 22863.0 19962.0 protein-coding gene gene with protein product """Barkor"", ""beclin 1-associated autophagy-related key regulator""" 613515 """KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)""" KIAA0831 18843052 Standard NM_014924 NM_014924 Approved ATG14L uc001xbx.2 Q6ZNE5 OTTHUMG00000172129 ENST00000247178.5:c.231C>T 14.__UNKNOWN__:g.55864143G>A A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8 __UNKNOWN__ CCDS32087.1 ATG14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000416992.1 - ENST00000247178.5 Silent SNP PCPG-TCGA-QR-A70W-Normal-SM-5EQF6 CERS2 29956 ucsc.edu 37 1 150938765 150938765 + Splice_Site SNP C C A TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr1:150938765C>A ENST00000345896.4 - 10.0 1054 c.e10-1 CERS2_ENST00000271688.6_Splice_Site|CERS2_ENST00000561294.1_Intron|CERS2_ENST00000368954.5_Splice_Site Q96G23 CERS2_HUMAN ceramide synthase 2 ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965) DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291) CTTCTACCAGCTGTGGAAAAG 0.547 0 63.0 60.0 61.0 1 150938765.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AF189062 CCDS973.1 1q21.3 2012-09-20 2011-07-08 2011-07-08 ENSG00000143418 ENSG00000143418 29956.0 29956.0 """Homeoboxes / CERS class""" 14076.0 protein-coding gene gene with protein product 606920 """longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2""" LASS2 11543633 Standard NM_022075 NM_181746 Approved SP260, FLJ10243 uc001evz.3 Q96G23 OTTHUMG00000035064 ENST00000345896.4:c.1117-1G>T 1.__UNKNOWN__:g.150938765C>A D3DV06|Q5SZE5|Q9HD96|Q9NW79 __UNKNOWN__ . . . . . . . . . . C 11.50 1.657453 0.29425 . . ENSG00000143418 ENST00000368954;ENST00000271688;ENST00000345896 . . . 5.33 5.33 0.75918 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 18.8195 0.92090 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . CERS2 149205389 1.000000 0.71417 0.991000 0.47740 0.552000 0.35366 2.434000 0.44802 2.766000 0.95052 0.655000 0.94253 . CERS2-002 KNOWN basic|exp_conf processed_transcript protein_coding OTTHUMT00000084898.2 Intron - ENST00000345896.4 Splice_Site SNP PCPG-TCGA-QR-A70W-Normal-SM-5EQF6 NFIX 4784 ucsc.edu 37 19 13192561 13192561 + Silent SNP G G A TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr19:13192561G>A ENST00000360105.4 + 7.0 1097 c.1032G>A c.(1030-1032)ccG>ccA p.P344P NFIX_ENST00000587760.1_Silent_p.P374P|NFIX_ENST00000587260.1_Silent_p.P381P|NFIX_ENST00000588228.1_Silent_p.P335P|NFIX_ENST00000397661.2_Silent_p.P382P|NFIX_ENST00000592199.1_Silent_p.P382P|NFIX_ENST00000358552.3_Silent_p.P340P|NFIX_ENST00000585575.1_Silent_p.P374P Q14938 NFIX_HUMAN nuclear factor I/X (CCAAT-binding transcription factor) 382.0 astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11.0 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) AGTCGAGCCCGTATTTCACGC 0.632 0 54.0 64.0 61.0 19 13192561.0 2137.0 4236.0 6373.0 SO:0001819 synonymous_variant U18761 CCDS45996.1, CCDS59359.1 19p13.3 2008-02-05 ENSG00000008441 4784.0 4784.0 7788.0 protein-coding gene gene with protein product 164005 8340106, 7590749 Standard NM_002501 NM_001271043 Approved NF1A uc010xmx.2 Q14938 ENST00000360105.4:c.1032G>A 19.__UNKNOWN__:g.13192561G>A B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8 __UNKNOWN__ NFIX-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000452768.1 + ENST00000360105.4 Silent SNP PCPG-TCGA-QR-A70W-Normal-SM-5EQF6 EVC2 132884 hgsc.bcm.edu 37 4 5567031 5567031 + Missense_Mutation SNP T T C TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 T T . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr4:5567031T>C ENST00000344408.5 - 21.0 3666 c.3613A>G c.(3613-3615)Agc>Ggc p.S1205G EVC2_ENST00000344938.1_Missense_Mutation_p.S1205G|EVC2_ENST00000310917.2_Missense_Mutation_p.S1125G NM_147127.4 NP_667338.3 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 1205.0 smoothened signaling pathway (GO:0007224) cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) 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) 81.0 AATCCTCTGCTTATCAGATCT 0.517 0 156.0 148.0 151.0 4 5567031.0 2203.0 4300.0 6503.0 SO:0001583 missense AB083067 CCDS3382.2, CCDS54718.1 4p16.2-p16.1 2008-08-01 2008-08-01 ENSG00000173040 ENSG00000173040 132884.0 132884.0 19747.0 protein-coding gene gene with protein product 607261 12136126, 12571802 Standard NM_147127 NM_147127 Approved LBN uc003gij.3 Q86UK5 OTTHUMG00000125493 ENST00000344408.5:c.3613A>G 4.__UNKNOWN__:g.5567031T>C ENSP00000342144:p.Ser1205Gly Q86YT3|Q86YT4|Q8NG49 __UNKNOWN__ CCDS3382.2 . . . . . . . . . . T 7.855 0.724766 0.15439 . . ENSG00000173040 ENST00000344938;ENST00000310917;ENST00000344408 T;T;T 0.76448 -1.02;-0.97;-0.97 4.67 3.49 0.39957 . 0.169406 0.40302 N 0.001122 T 0.60958 0.2309 L 0.27053 0.805 0.23113 N 0.998272 B 0.34372 0.451 B 0.30179 0.112 T 0.54043 -0.8352 10 0.49607 T 0.09 -16.4093 7.2547 0.26168 0.0:0.1026:0.0:0.8974 . 1205 Q86UK5 LBN_HUMAN G 1205;1125;1205 ENSP00000339954:S1205G;ENSP00000311683:S1125G;ENSP00000342144:S1205G ENSP00000311683:S1125G S - 1 0 EVC2 5617932 0.951000 0.32395 0.171000 0.22900 0.042000 0.13812 1.060000 0.30530 0.759000 0.33084 -0.256000 0.11100 AGC EVC2-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000289822.2 - ENST00000344408.5 Missense_Mutation SNP PCPG-TCGA-QR-A70W-Normal-SM-5EQF6 SLC35G5 83650 hgsc.bcm.edu 37 8 11189387 11189387 + Missense_Mutation SNP G G A TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr8:11189387G>A ENST00000382435.4 + 1.0 991 c.772G>A c.(772-774)Gca>Aca p.A258T NM_001282300.1|NM_054028.1 NP_001269229.1|NP_473369.1 Q96KT7 S35G5_HUMAN solute carrier family 35, member G5 258.0 integral component of membrane (GO:0016021) p.A258T(1) TTGTGTGGGGGCAGAGGGGAT 0.632 1 Substitution - Missense(1) skin(1) 113.0 111.0 111.0 8 11189387.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ291677 CCDS5980.1 8p23.1 2013-05-22 2011-08-03 2011-08-03 ENSG00000177710 ENSG00000177710 83650.0 83650.0 """Solute carriers""" 15546.0 protein-coding gene gene with protein product 615199 """acyl-malonyl condensing enzyme 1-like 2""" AMAC, AMAC1L2 Standard NM_054028 NM_054028 Approved uc003wtp.1 Q96KT7 OTTHUMG00000090653 ENST00000382435.4:c.772G>A 8.__UNKNOWN__:g.11189387G>A ENSP00000371872:p.Ala258Thr A2RRL6 __UNKNOWN__ CCDS5980.1 . . . . . . . . . . G 9.059 0.994027 0.19043 . . ENSG00000177710 ENST00000382435 T 0.52983 0.64 . . . . 0.157695 0.28865 N 0.013888 T 0.37156 0.0993 M 0.61703 1.905 0.09310 N 1 B 0.10296 0.003 B 0.10450 0.005 T 0.22034 -1.0228 9 0.23302 T 0.38 -0.0577 5.8679 0.18786 8.0E-4:0.0:0.9992:0.0 . 258 Q96KT7 S35G5_HUMAN T 258 ENSP00000371872:A258T ENSP00000371872:A258T A + 1 0 SLC35G5 11226797 0.004000 0.15560 0.149000 0.22428 0.151000 0.21798 1.286000 0.33273 0.088000 0.17205 0.089000 0.15464 GCA SLC35G5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207313.2 + ENST00000382435.4 Missense_Mutation SNP PCPG-TCGA-QR-A70W-Normal-SM-5EQF6 SMPD4 55627 hgsc.bcm.edu 37 2 130912789 130912789 + Missense_Mutation SNP A A C rs148027738 byFrequency TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 A A . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr2:130912789A>C ENST00000409031.1 - 15.0 2598 c.1450T>G c.(1450-1452)Ttt>Gtt p.F484V SMPD4_ENST00000452225.2_Missense_Mutation_p.F225V|SMPD4_ENST00000339679.7_Missense_Mutation_p.F342V|SMPD4_ENST00000351288.6_Missense_Mutation_p.F455V|SMPD4_ENST00000453750.1_Missense_Mutation_p.F233V|SMPD4_ENST00000426662.2_Missense_Mutation_p.F120V|SMPD4_ENST00000443958.2_Missense_Mutation_p.F148V|SMPD4_ENST00000431183.2_Missense_Mutation_p.F382V NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 445.0 cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802) metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29.0 Colorectal(110;0.1) Phosphatidylserine(DB00144) AAGCCCACAAACAACTTGGTG 0.602 0 97.0 88.0 91.0 2 130912789.0 2203.0 4300.0 6503.0 SO:0001583 missense AF052134 CCDS2156.2, CCDS42751.1, CCDS54398.1 2q21.1 2009-11-06 ENSG00000136699 ENSG00000136699 55627.0 55627.0 32949.0 protein-coding gene gene with protein product 610457 16517606 Standard NM_017751 NM_001171083 Approved FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13 uc002tqr.2 Q9NXE4 OTTHUMG00000131624 ENST00000409031.1:c.1450T>G 2.__UNKNOWN__:g.130912789A>C ENSP00000386531:p.Phe484Val B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9 __UNKNOWN__ CCDS42751.1 .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. 15.92|15.92|15.92 2.974600|2.974600|2.974600 0.53720|0.53720|0.53720 .|.|. .|.|. ENSG00000136699|ENSG00000136699|ENSG00000136699 ENST00000439886|ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662;ENST00000457039;ENST00000449159;ENST00000451542|ENST00000430682 .|.|. .|.|. .|.|. 4.24|4.24|4.24 4.24|4.24|4.24 0.50183|0.50183|0.50183 .|.|. .|0.000000|. .|0.85682|. .|D|. .|0.000000|. T|T|T 0.73636|0.73636|0.73636 0.3612|0.3612|0.3612 M|M|M 0.81497|0.81497|0.81497 2.545|2.545|2.545 0.58432|0.58432|0.58432 D|D|D 0.999999|0.999999|0.999999 .|D;D;P;P;D;P;D;D;D|. .|0.76494|. .|0.982;0.982;0.907;0.896;0.999;0.885;0.991;0.998;0.992|. .|P;P;P;P;D;P;D;D;D|. .|0.78314|. .|0.849;0.888;0.751;0.818;0.991;0.492;0.94;0.981;0.974|. T|T|T 0.75340|0.75340|0.75340 -0.3352|-0.3352|-0.3352 5|9|5 .|0.37606|. .|T|. .|0.19|. .|.|. 11.314|11.314|11.314 0.49381|0.49381|0.49381 1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0 .|.|. .|120;225;382;342;233;416;445;484;491|. .|B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4|. .|.;.;.;.;.;.;NSMA3_HUMAN;.;.|. W|V|G 358|455;484;382;233;148;342;225;120;81;20;226|165 .|.|. .|ENSP00000339721:F342V|. C|F|V -|-|- 3|1|2 2|0|0 SMPD4|SMPD4|SMPD4 130629259|130629259|130629259 1.000000|1.000000|1.000000 0.71417|0.71417|0.71417 0.969000|0.969000|0.969000 0.41365|0.41365|0.41365 0.096000|0.096000|0.096000 0.18686|0.18686|0.18686 6.723000|6.723000|6.723000 0.74742|0.74742|0.74742 1.538000|1.538000|1.538000 0.49270|0.49270|0.49270 0.254000|0.254000|0.254000 0.18369|0.18369|0.18369 TGT|TTT|GTT SMPD4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254516.3 - ENST00000409031.1 Missense_Mutation SNP PCPG-TCGA-QR-A70W-Normal-SM-5EQF6 C10orf91 170393 broad.mit.edu 37 10 134261549 134261549 + Missense_Mutation SNP C C T TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr10:134261549C>T ENST00000392630.3 + 3.0 483 c.422C>T c.(421-423)gCg>gTg p.A141V C10orf91_ENST00000321248.2_Missense_Mutation_p.A141V NM_173541.2 NP_775812.1 Q5T1B1 CJ091_HUMAN chromosome 10 open reading frame 91 141.0 endometrium(1)|kidney(1)|lung(1)|ovary(2) 5.0 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162) TTCAGGAATGCGGCCTTCGAA 0.662 0 56.0 70.0 65.0 10 134261549.0 2177.0 4281.0 6458.0 SO:0001583 missense BC030794 CCDS7668.1 10q26.3 2004-03-16 ENSG00000180066 ENSG00000180066 170393.0 170393.0 27275.0 protein-coding gene gene with protein product 12477932 Standard NM_173541 NM_173541 Approved bA432J24.4 uc001llm.3 Q5T1B1 OTTHUMG00000019289 ENST00000392630.3:c.422C>T 10.__UNKNOWN__:g.134261549C>T ENSP00000376407:p.Ala141Val Q8N0T7 __UNKNOWN__ CCDS7668.1 . . . . . . . . . . C 11.24 1.580944 0.28180 . . ENSG00000180066 ENST00000392630;ENST00000321248 T;T 0.07444 3.19;3.19 1.8 0.838 0.18902 . . . . . T 0.02571 0.0078 N 0.08118 0 0.09310 N 1 P 0.49862 0.929 B 0.32090 0.14 T 0.40776 -0.9545 8 . . . . 3.6076 0.08049 0.0:0.739:0.0:0.261 . 141 Q5T1B1 CJ091_HUMAN V 141 ENSP00000376407:A141V;ENSP00000323241:A141V . A + 2 0 C10orf91 134111539 0.006000 0.16342 0.088000 0.20740 0.017000 0.09413 -0.406000 0.07187 0.289000 0.22422 0.313000 0.20887 GCG C10orf91-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051078.2 + ENST00000392630.3 Missense_Mutation SNP PCPG-TCGA-QR-A70X-Normal-SM-5EQG3 LINC00933 0 broad.mit.edu 37 15 85121267 85121267 + RNA SNP C C T rs144259916 by1000genomes TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr15:85121267C>T ENST00000557887.1 + 0.0 467 NR_038273.1|NR_038274.1 long intergenic non-protein coding RNA 933 GGAGGCCAGCCGAACACACAG 0.473 0 15q25.2 2013-05-29 ENSG00000259728 ENSG00000259728 100506874.0 100506874.0 """Long non-coding RNAs""" 48625.0 non-coding RNA RNA, long non-coding Standard NR_038273 Approved OTTHUMG00000172445 ENST00000557887.1: 15.__UNKNOWN__:g.85121267C>T __UNKNOWN__ LINC00933-001 KNOWN basic processed_transcript pseudogene OTTHUMT00000418591.1 + ENST00000557887.1 RNA SNP PCPG-TCGA-QR-A70X-Normal-SM-5EQG3 KRT8 3856 broad.mit.edu 37 12 53295659 53295659 + Silent SNP G G A TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr12:53295659G>A ENST00000552551.1 - 3.0 954 c.522C>T c.(520-522)gaC>gaT p.D174D KRT8_ENST00000546897.1_Silent_p.D174D|KRT8_ENST00000293308.6_Silent_p.D174D|KRT8_ENST00000552150.1_Silent_p.D202D P05787 K2C8_HUMAN keratin 8 174.0 Coil 1B.|Rod. cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032) cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018) scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198) endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13.0 BRCA - Breast invasive adenocarcinoma(357;0.108) Tenecteplase(DB00031) TGTTCTTGAAGTCCTCCACCA 0.592 0 148.0 143.0 145.0 12 53295659.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC000654 CCDS8841.1, CCDS58234.1 12q13.13 2013-01-16 ENSG00000170421 ENSG00000170421 3856.0 3856.0 """-"", ""Intermediate filaments type II, keratins (basic)""" 6446.0 protein-coding gene gene with protein product 148060.0 2434381, 1705144, 16831889 Standard NM_002273 NM_002273 Approved CARD2, K8, CK8, CYK8, K2C8, KO uc009zmk.1 P05787 OTTHUMG00000169881 ENST00000552551.1:c.522C>T 12.__UNKNOWN__:g.53295659G>A A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60 __UNKNOWN__ CCDS8841.1 . . . . . . . . . . G 19.44 3.828336 0.71143 . . ENSG00000170421 ENST00000547176 D 0.81996 -1.56 4.53 3.64 0.41730 . . . . . D 0.87059 0.6083 . . . 0.80722 D 1 . . . . . . D 0.87587 0.2488 6 0.62326 D 0.03 . 12.1438 0.54012 0.0871:0.0:0.9129:0.0 . . . . F 25 ENSP00000449010:L25F ENSP00000449010:L25F L - 1 0 KRT8 51581926 1.000000 0.71417 1.000000 0.80357 0.959000 0.62525 0.986000 0.29590 1.206000 0.43276 0.455000 0.32223 CTT KRT8-001 KNOWN alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406385.1 - ENST00000552551.1 Silent SNP PCPG-TCGA-QR-A70X-Normal-SM-5EQG3 ABCA13 154664 broad.mit.edu 37 7 48327637 48327637 + Missense_Mutation SNP G G A TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr7:48327637G>A ENST00000435803.1 + 20.0 8941 c.8917G>A c.(8917-8919)Gct>Act p.A2973T NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2973.0 transport (GO:0006810) integral component of membrane (GO:0016021) ATP binding (GO:0005524)|ATPase activity (GO:0016887) 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) 270.0 CATTTTATCTGCTATACAAGG 0.448 0 175.0 171.0 172.0 7 48327637.0 1861.0 4106.0 5967.0 SO:0001583 missense AY204751 CCDS47584.1 7p12.3 2012-03-14 ENSG00000179869 ENSG00000179869 154664.0 154664.0 """ATP binding cassette transporters / subfamily A""" 14638.0 protein-coding gene gene with protein product 607807.0 12697998 Standard NM_152701 NM_152701 Approved FLJ33876, FLJ33951 uc003toq.2 Q86UQ4 OTTHUMG00000155840 ENST00000435803.1:c.8917G>A 7.__UNKNOWN__:g.48327637G>A ENSP00000411096:p.Ala2973Thr K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248 __UNKNOWN__ CCDS47584.1 . . . . . . . . . . G 16.84 3.234058 0.58886 . . ENSG00000179869 ENST00000435803 D 0.87571 -2.27 5.63 3.8 0.43715 . 0.351640 0.20494 N 0.091221 T 0.75831 0.3903 L 0.27053 0.805 0.09310 N 0.999998 P;B 0.40731 0.728;0.147 B;B 0.33690 0.168;0.035 T 0.70252 -0.4923 10 0.87932 D 0 . 8.1827 0.31319 0.0875:0.1683:0.7442:0.0 . 675;2973 Q86UQ4-3;Q86UQ4 .;ABCAD_HUMAN T 2973 ENSP00000411096:A2973T ENSP00000411096:A2973T A + 1 0 ABCA13 48298183 0.001000 0.12720 0.010000 0.14722 0.609000 0.37215 0.607000 0.24209 1.357000 0.45904 0.591000 0.81541 GCT ABCA13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000341964.2 + ENST00000435803.1 Missense_Mutation SNP PCPG-TCGA-QR-A70X-Normal-SM-5EQG3 PTTG1IP 754 broad.mit.edu 37 21 46271411 46271411 + Silent SNP G G A TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr21:46271411G>A ENST00000397887.3 - 0.0 501 PTTG1IP_ENST00000330938.3_3'UTR|PTTG1IP_ENST00000397886.3_3'UTR|PTTG1IP_ENST00000445724.2_Silent_p.C100C P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634) receptor activity (GO:0004872) ovary(1)|prostate(1) 2.0 Colorectal(79;0.0659) TCAGGAGACCGCAATGGCCAC 0.622 0 SO:0001624 3_prime_UTR_variant AF149785 CCDS13715.1, CCDS68221.1 21q22.3 2008-07-04 ENSG00000183255 ENSG00000183255 754.0 754.0 13524.0 protein-coding gene gene with protein product 603784.0 C21orf3, C21orf1 9570958, 10830953 Standard NM_004339 Approved PBF uc002zgb.2 P53801 OTTHUMG00000090254 ENST00000397887.3:c.*85C>T 21.__UNKNOWN__:g.46271411G>A B2RDP7|D3DSL9|Q9NS09 __UNKNOWN__ PTTG1IP-005 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000206557.1 - ENST00000397887.3 3'UTR SNP PCPG-TCGA-QR-A70X-Normal-SM-5EQG3 UBAP2 55833 broad.mit.edu 37 9 33927038 33927038 + Silent SNP C C G TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr9:33927038C>G ENST00000379238.1 - 21.0 2529 c.2412G>C c.(2410-2412)ctG>ctC p.L804L UBAP2_ENST00000539807.1_Silent_p.L559L|UBAP2_ENST00000449054.1_Silent_p.L804L|UBAP2_ENST00000379235.1_Silent_p.L43L|UBAP2_ENST00000379239.4_Silent_p.L537L|UBAP2_ENST00000360802.1_Silent_p.L804L ubiquitin associated protein 2 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32.0 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) GGTTGTGCAGCAGGGGAGGCA 0.582 0 49.0 51.0 50.0 9 33927038.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB040924 CCDS6547.1, CCDS75828.1 9p11.2 2008-02-05 ENSG00000137073 ENSG00000137073 55833.0 55833.0 14185.0 protein-coding gene gene with protein product 8871400 Standard NM_018449 NM_018449 Approved KIAA1491, bA176F3.5, FLJ22435 uc003ztq.1 Q5T6F2 OTTHUMG00000000427 ENST00000379238.1:c.2412G>C 9.__UNKNOWN__:g.33927038C>G __UNKNOWN__ CCDS6547.1 UBAP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000001071.1 - ENST00000379238.1 Silent SNP PCPG-TCGA-QR-A70X-Normal-SM-5EQG3 ANO8 57719 broad.mit.edu 37 19 17444305 17444305 + Silent SNP G G A TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr19:17444305G>A ENST00000159087.4 - 3.0 434 c.276C>T c.(274-276)ccC>ccT p.P92P NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 92.0 chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886) intracellular calcium activated chloride channel activity (GO:0005229) autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27.0 CGATGAGCTCGGGAATGCCCA 0.652 0 131.0 120.0 124.0 19 17444305.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB046843 CCDS32949.1 19p13.12 2014-04-09 2008-08-28 2008-08-28 ENSG00000074855 57719.0 57719.0 """Ion channels / Chloride channels : Calcium activated : Anoctamins""" 29329.0 protein-coding gene gene with protein product 610216.0 """KIAA1623"", ""transmembrane protein 16H""" KIAA1623, TMEM16H 10997877, 24692353 Standard XM_050644 NM_020959 Approved uc002ngf.2 Q9HCE9 ENST00000159087.4:c.276C>T 19.__UNKNOWN__:g.17444305G>A A6NIJ0 __UNKNOWN__ CCDS32949.1 ANO8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000462943.1 - ENST00000159087.4 Silent SNP PCPG-TCGA-QR-A70X-Normal-SM-5EQG3 LMAN2L 81562 broad.mit.edu 37 2 97373550 97373550 + Silent SNP A A G TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr2:97373550A>G ENST00000377079.4 - 8.0 861 c.838T>C c.(838-840)Ttg>Ctg p.L280L LMAN2L_ENST00000264963.4_Silent_p.L269L|LMAN2L_ENST00000537039.1_Silent_p.L131L|LMAN2L_ENST00000534882.1_Silent_p.L124L|LMAN2L_ENST00000426463.2_Silent_p.L135L NM_001142292.1 NP_001135764.1 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like 269.0 ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031) endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) mannose binding (GO:0005537)|metal ion binding (GO:0046872) NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7.0 AACAACTTCAAGGAAATGACA 0.418 0 104.0 104.0 104.0 2 97373550.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AL136617 CCDS2023.1, CCDS46365.1 2q11.1 2008-02-05 ENSG00000114988 ENSG00000114988 81562.0 81562.0 19263.0 protein-coding gene gene with protein product 609552.0 12609988 Standard NM_030805 NM_001142292 Approved DKFZp564L2423, VIPL uc002swv.3 Q9H0V9 OTTHUMG00000130453 ENST00000377079.4:c.838T>C 2.__UNKNOWN__:g.97373550A>G B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14 __UNKNOWN__ CCDS46365.1 LMAN2L-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000339027.1 - ENST00000377079.4 Silent SNP PCPG-TCGA-QR-A70X-Normal-SM-5EQG3 SLC22A11 55867 broad.mit.edu 37 11 64323500 64323500 + Missense_Mutation SNP C C T TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr11:64323500C>T ENST00000377585.3 + 1.0 339 c.29C>T c.(28-30)gCc>gTc p.A10V SLC22A11_ENST00000377581.3_Missense_Mutation_p.A10V|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000301891.4_Missense_Mutation_p.A10V Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 10.0 organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347) breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23.0 Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495) TTGGAGCAAGCCGGAGGCGTG 0.592 OREG0004031 type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 68.0 61.0 64.0 11 64323500.0 2201.0 4297.0 6498.0 SO:0001583 missense AB026116 CCDS8074.1 11q13.3 2013-05-22 2008-01-11 ENSG00000168065 ENSG00000168065 55867.0 55867.0 """Solute carriers""" 18120.0 protein-coding gene gene with protein product 607097.0 10660625, 15576633, 17229912 Standard NM_018484 NM_018484 Approved OAT4 uc001oai.3 Q9NSA0 OTTHUMG00000045142 ENST00000377585.3:c.29C>T 11.__UNKNOWN__:g.64323500C>T ENSP00000366809:p.Ala10Val 1075.0 A8K426|Q53GR2|Q6ZP72|Q8NBU4 __UNKNOWN__ . . . . . . . . . . C 0.334 -0.954636 0.02285 . . ENSG00000168065 ENST00000301891;ENST00000377585;ENST00000377581 T;T;T 0.39592 1.07;1.07;1.07 3.62 -1.65 0.08291 . 0.411149 0.23506 N 0.047444 T 0.10551 0.0258 N 0.00683 -1.26 0.09310 N 1 B;B;B;B 0.25904 0.046;0.01;0.002;0.137 B;B;B;B 0.31751 0.027;0.007;0.007;0.135 T 0.41502 -0.9505 10 0.02654 T 1 . 8.2321 0.31603 0.0:0.3289:0.0:0.6711 . 10;10;10;10 Q9NSA0-2;A6NCG2;Q9NSA0;B4DJH6 .;.;S22AB_HUMAN;. V 10 ENSP00000301891:A10V;ENSP00000366809:A10V;ENSP00000366804:A10V ENSP00000301891:A10V A + 2 0 SLC22A11 64080076 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 0.239000 0.18023 -0.200000 0.10300 -0.490000 0.04691 GCC SLC22A11-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000141960.1 + ENST00000377585.3 Missense_Mutation SNP PCPG-TCGA-QR-A70X-Normal-SM-5EQG3 SHC1 6464 broad.mit.edu 37 1 154942999 154942999 + Missense_Mutation SNP C C G TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr1:154942999C>G ENST00000448116.2 - 1.0 224 c.4G>C c.(4-6)Gat>Cat p.D2H SHC1_ENST00000368449.4_5'UTR|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000606391.1_Missense_Mutation_p.D2H|SHC1_ENST00000368445.5_Missense_Mutation_p.D2H NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 2.0 D -> N (in Ref. 3; CAA70977). {ECO:0000305}. actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337) cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435) ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068) breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20.0 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGCAGGAGATCCATAGTTGAG 0.647 NSCLC(4;32 234 1864 2492 3259 13747 17376) 0 26.0 31.0 29.0 1 154942999.0 1923.0 3788.0 5711.0 SO:0001583 missense U73377 CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1 1q21 2013-02-14 2002-01-14 ENSG00000160691 ENSG00000160691 6464.0 6464.0 """SH2 domain containing""" 10840.0 protein-coding gene gene with protein product 600560.0 """SHC (Src homology 2 domain-containing) transforming protein 1""" SHC 1623525 Standard NM_183001 NM_003029 Approved p66 uc001ffw.3 P29353 OTTHUMG00000037295 ENST00000448116.2:c.4G>C 1.__UNKNOWN__:g.154942999C>G ENSP00000401303:p.Asp2His B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1 __UNKNOWN__ CCDS44233.1 . . . . . . . . . . C 21.1 4.096807 0.76870 . . ENSG00000160691 ENST00000368445;ENST00000448116;ENST00000368449 T;T;T 0.51071 0.72;0.72;1.21 4.27 4.27 0.50696 . 0.201461 0.38381 N 0.001718 T 0.40297 0.1111 N 0.08118 0 0.80722 D 1 D;D 0.76494 0.999;0.998 D;D 0.72982 0.979;0.953 T 0.57159 -0.7859 10 0.72032 D 0.01 . 16.8789 0.86058 0.0:1.0:0.0:0.0 . 2;2 P29353-6;P29353 .;SHC1_HUMAN H 2 ENSP00000357430:D2H;ENSP00000401303:D2H;ENSP00000357434:D2H ENSP00000357430:D2H D - 1 0 SHC1 153209623 1.000000 0.71417 1.000000 0.80357 0.790000 0.44656 6.693000 0.74582 2.371000 0.80710 0.555000 0.69702 GAT SHC1-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000090779.2 - ENST00000448116.2 Missense_Mutation SNP PCPG-TCGA-QR-A70X-Normal-SM-5EQG3 ANK3 288 broad.mit.edu 37 10 61833944 61833944 + Missense_Mutation SNP C C T TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr10:61833944C>T ENST00000280772.2 - 37.0 6886 c.6695G>A c.(6694-6696)cGg>cAg p.R2232Q ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2232.0 axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165) axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018) cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200) 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) 196.0 GCTTAAAACCCGATTGTGGTC 0.413 0 212.0 197.0 202.0 10 61833944.0 2203.0 4300.0 6503.0 SO:0001583 missense U13616 CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1 10q21 2013-01-10 ENSG00000151150 ENSG00000151150 288.0 288.0 """Ankyrin repeat domain containing""" 494.0 protein-coding gene gene with protein product """ankyrin-3, node of Ranvier"", ""ankyrin-G""" 600465.0 7665168 Standard NM_020987 NM_020987 Approved uc001jky.3 Q12955 OTTHUMG00000018288 ENST00000280772.2:c.6695G>A 10.__UNKNOWN__:g.61833944C>T ENSP00000280772:p.Arg2232Gln B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5 __UNKNOWN__ CCDS7258.1 . . . . . . . . . . C 11.06 1.527127 0.27299 . . ENSG00000151150 ENST00000280772 T 0.62639 0.01 6.05 4.2 0.49525 . 0.000000 0.37053 N 0.002280 T 0.49525 0.1562 L 0.36672 1.1 0.54753 D 0.999985 B 0.32128 0.357 B 0.23275 0.045 T 0.47674 -0.9099 10 0.49607 T 0.09 . 13.4971 0.61432 0.0:0.8722:0.0:0.1278 . 2232 Q12955 ANK3_HUMAN Q 2232 ENSP00000280772:R2232Q ENSP00000280772:R2232Q R - 2 0 ANK3 61503950 0.028000 0.19301 0.023000 0.16930 0.823000 0.46562 1.390000 0.34464 0.888000 0.36160 0.643000 0.83706 CGG ANK3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000048201.4 - ENST00000280772.2 Missense_Mutation SNP PCPG-TCGA-QR-A70X-Normal-SM-5EQG3 QSOX2 169714 broad.mit.edu 37 9 139118701 139118701 + Silent SNP G G A TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr9:139118701G>A ENST00000358701.5 - 2.0 385 c.348C>T c.(346-348)cgC>cgT p.R116R NM_181701.3 NP_859052.3 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 116.0 Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}. cell redox homeostasis (GO:0045454) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) thiol oxidase activity (GO:0016972) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 22.0 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) GAGCTGCGACGCGAATGGCAC 0.607 OREG0019616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 204.0 169.0 181.0 9 139118701.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AJ318051 CCDS35178.1 9q34.3 2008-02-05 2007-04-23 2007-04-23 ENSG00000165661 ENSG00000165661 169714.0 169714.0 30249.0 protein-coding gene gene with protein product 612860.0 """quiescin Q6-like 1""" QSCN6L1 12176051 Standard NM_181701 NM_181701 Approved SOXN, DKFZp762A2013 uc010nbi.2 Q6ZRP7 OTTHUMG00000020923 ENST00000358701.5:c.348C>T 9.__UNKNOWN__:g.139118701G>A 1646.0 A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2 __UNKNOWN__ CCDS35178.1 QSOX2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055046.2 - ENST00000358701.5 Silent SNP PCPG-TCGA-QR-A70X-Normal-SM-5EQG3 TIGD7 91151 broad.mit.edu 37 16 3350052 3350052 + Missense_Mutation SNP G G A TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr16:3350052G>A ENST00000396862.1 - 2.0 2391 c.563C>T c.(562-564)cCa>cTa p.P188L TIGD7_ENST00000268674.2_Missense_Mutation_p.P188L NM_033208.3 NP_149985.2 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 188.0 DDE. nucleus (GO:0005634) DNA binding (GO:0003677) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12.0 agaattttctggcattgactt 0.408 0 144.0 144.0 144.0 16 3350052.0 2197.0 4300.0 6497.0 SO:0001583 missense AF251050 CCDS10500.1 16p13.11 2008-02-05 ENSG00000140993 ENSG00000140993 91151.0 91151.0 18331.0 protein-coding gene gene with protein product 612969.0 Standard NM_033208 NM_033208 Approved Sancho uc002cus.3 Q6NT04 OTTHUMG00000129325 ENST00000396862.1:c.563C>T 16.__UNKNOWN__:g.3350052G>A ENSP00000380071:p.Pro188Leu Q9BXZ0 __UNKNOWN__ CCDS10500.1 . . . . . . . . . . G 17.45 3.391729 0.62066 . . ENSG00000140993 ENST00000426381;ENST00000396862;ENST00000268674 T;T 0.39997 1.05;1.05 5.22 5.22 0.72569 . 0.198530 0.24247 U 0.040206 T 0.56031 0.1958 M 0.68317 2.08 0.41841 D 0.990123 P 0.51537 0.946 P 0.55391 0.775 T 0.57063 -0.7875 10 0.46703 T 0.11 . 14.2675 0.66129 0.0:0.0:1.0:0.0 . 188 Q6NT04 TIGD7_HUMAN L 188 ENSP00000380071:P188L;ENSP00000268674:P188L ENSP00000268674:P188L P - 2 0 TIGD7 3290053 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 2.633000 0.46519 2.442000 0.82660 0.655000 0.94253 CCA TIGD7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251465.1 - ENST00000396862.1 Missense_Mutation SNP PCPG-TCGA-QR-A70X-Normal-SM-5EQG3 ATP9B 374868 broad.mit.edu 37 18 76886309 76886309 + Missense_Mutation SNP G G C TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr18:76886309G>C ENST00000307671.7 + 5.0 615 c.601G>C c.(601-603)Gaa>Caa p.E201Q ATP9B_ENST00000426216.2_Missense_Mutation_p.E201Q|ATP9B_ENST00000591464.1_3'UTR O43861 ATP9B_HUMAN ATPase, class II, type 9B 201.0 establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332) integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38.0 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) AGCAATTGATGAATTTCGGCG 0.348 0 177.0 151.0 160.0 18 76886309.0 2203.0 4300.0 6503.0 SO:0001583 missense R51412 CCDS12014.1 18q23 2010-04-20 2007-09-19 ENSG00000166377 ENSG00000166377 374868.0 374868.0 """ATPases / P-type""" 13541.0 protein-coding gene gene with protein product 614446.0 """ATPase, Class II, type 9B""" 9548971, 11015572 Standard NM_198531 NM_198531 Approved ATPIIB uc002lmx.3 O43861 OTTHUMG00000132898 ENST00000307671.7:c.601G>C 18.__UNKNOWN__:g.76886309G>C ENSP00000304500:p.Glu201Gln O60872|Q08AD8|Q08AD9 __UNKNOWN__ . . . . . . . . . . G 20.3 3.959612 0.74016 . . ENSG00000166377 ENST00000542323;ENST00000426216;ENST00000307671 T;T 0.77098 -1.07;-1.07 5.42 5.42 0.78866 ATPase, P-type, ATPase-associated domain (1);ATPase, P-type, cytoplasmic transduction domain A (1); 0.000000 0.85682 D 0.000000 D 0.87160 0.6108 M 0.65975 2.015 0.80722 D 1 D;D 0.67145 0.996;0.996 D;D 0.68621 0.959;0.931 D 0.87931 0.2710 10 0.87932 D 0 . 19.164 0.93546 0.0:0.0:1.0:0.0 . 201;201 O43861;O43861-2 ATP9B_HUMAN;. Q 124;201;201 ENSP00000398076:E201Q;ENSP00000304500:E201Q ENSP00000304500:E201Q E + 1 0 ATP9B 74987297 1.000000 0.71417 1.000000 0.80357 0.430000 0.31655 8.533000 0.90617 2.703000 0.92315 0.591000 0.81541 GAA ATP9B-004 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000450474.1 + ENST00000307671.7 Missense_Mutation SNP PCPG-TCGA-QR-A70X-Normal-SM-5EQG3 HSD17B2 3294 bcgsc.ca 37 16 82124668 82124668 + Missense_Mutation SNP T T A TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr16:82124668T>A ENST00000199936.4 + 4.0 995 RP11-510J16.5_ENST00000567021.1_RNA NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10.0 CCCAAGAACCTGTGATGTTCA 0.483 0 86.0 85.0 86.0 16 82124668.0 2201.0 4300.0 6501.0 SO:0001627 intron_variant CCDS10936.1 16q24.1-q24.2 2011-09-14 ENSG00000086696 ENSG00000086696 3294.0 3294.0 1.1.1.62 """Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2""" 5211.0 protein-coding gene gene with protein product """short chain dehydrogenase/reductase family 9C, member 2""" 109685 7759109, 19027726 Standard NM_002153 NM_002153 Approved HSD17, SDR9C2 uc002fgv.3 P37059 OTTHUMG00000137631 ENST00000199936.4:c.802+24T>A 16.__UNKNOWN__:g.82124668T>A B2R7T4 __UNKNOWN__ CCDS10936.1 HSD17B2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269057.2 + ENST00000199936.4 Intron SNP PCPG-TCGA-QR-A70X-Normal-SM-5EQG3 OR5D16 390144 bcgsc.ca 37 11 55606937 55606937 + Missense_Mutation SNP G G A rs148616685 TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr11:55606937G>A ENST00000378396.1 + 1.0 710 c.710G>A c.(709-711)cGc>cAc p.R237H NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 237.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44.0 all_epithelial(135;0.208) AGTGGGCACCGCAAAGTCTTC 0.488 0 G HIS/ARG 0,4402 0,0,2201 157.0 132.0 141.0 710 -1.2 0.0 11 dbSNP_134 141.0 1,8591 0,1,4295 no missense OR5D16 NM_001005496.1 29 0,1,6496 AA,AG,GG 0.0116,0.0,0.0077 benign 237/329 55606937.0 1,12993 2201.0 4296.0 6497.0 SO:0001583 missense AB065783 CCDS31512.1 11q11 2012-08-09 ENSG00000205029 ENSG00000205029 390144.0 390144.0 """GPCR / Class A : Olfactory receptors""" 15283.0 protein-coding gene gene with protein product Standard NM_001005496 NM_001005496 Approved uc010rio.2 Q8NGK9 OTTHUMG00000154233 ENST00000378396.1:c.710G>A 11.__UNKNOWN__:g.55606937G>A ENSP00000367649:p.Arg237His Q6IF65|Q96RB4 __UNKNOWN__ CCDS31512.1 . . . . . . . . . . . 0.243 -1.011894 0.02095 0.0 1.16E-4 ENSG00000205029 ENST00000378396 T 0.00034 8.87 4.0 -1.2 0.09554 GPCR, rhodopsin-like superfamily (1); . . . . T 0.00073 0.0002 N 0.11892 0.195 0.09310 N 1 B 0.25235 0.121 B 0.29440 0.102 T 0.01298 -1.1392 9 0.10636 T 0.68 -0.4145 4.9223 0.13876 0.4668:0.0:0.3947:0.1386 . 237 Q8NGK9 OR5DG_HUMAN H 237 ENSP00000367649:R237H ENSP00000367649:R237H R + 2 0 OR5D16 55363513 0.000000 0.05858 0.000000 0.03702 0.321000 0.28281 -2.847000 0.00734 -0.526000 0.06383 -0.430000 0.05897 CGC OR5D16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000334506.1 + ENST00000378396.1 Missense_Mutation SNP PCPG-TCGA-QR-A70X-Normal-SM-5EQG3 PHF7 51533 bcgsc.ca 37 3 52448050 52448050 + Missense_Mutation SNP C C T TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr3:52448050C>T ENST00000327906.3 + 3.0 740 c.80C>T c.(79-81)cCg>cTg p.P27L PHF7_ENST00000347025.2_Missense_Mutation_p.P27L|PHF7_ENST00000482327.1_3'UTR NM_016483.4 NP_057567.3 Q9BWX1 PHF7_HUMAN PHD finger protein 7 27.0 Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) breast(2)|large_intestine(4)|lung(3) 9.0 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) CAGAGGAAACCGTCTTCAGGG 0.478 c 1.0 0.0005 0.002 2184.0 0.9999 , , 0.0003 0.0004 0.8551 EXOME 0.0015 SNP 0 82.0 87.0 85.0 3 52448050.0 2203.0 4300.0 6503.0 SO:0001583 missense AY014283 CCDS2854.1, CCDS2855.1 3p21.31 2013-01-28 ENSG00000010318 ENSG00000010318 51533.0 51533.0 """Zinc fingers, PHD-type""" 18458.0 protein-coding gene gene with protein product 11042152, 11829468 Standard NM_016483 NM_016483 Approved NYD-SP6, HSPC226 uc003ddy.3 Q9BWX1 OTTHUMG00000158495 ENST00000327906.3:c.80C>T 3.__UNKNOWN__:g.52448050C>T ENSP00000333024:p.Pro27Leu K4DI82 __UNKNOWN__ CCDS2854.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 c 7.027 0.559919 0.13436 . . ENSG00000010318 ENST00000478707;ENST00000327906;ENST00000347025 D;D;D 0.92752 -2.1;-2.1;-3.1 4.87 0.719 0.18208 . 0.777723 0.12139 N 0.496066 T 0.75889 0.3911 N 0.04018 -0.295 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.62445 -0.6853 9 . . . -12.7841 1.2652 0.02010 0.1782:0.4498:0.1733:0.1987 . 27;27 A8K856;Q9BWX1 .;PHF7_HUMAN L 27 ENSP00000419316:P27L;ENSP00000333024:P27L;ENSP00000246282:P27L . P + 2 0 PHF7 52423090 0.034000 0.19679 0.075000 0.20258 0.767000 0.43475 -0.303000 0.08210 0.337000 0.23665 -0.119000 0.15052 CCG PHF7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351155.1 + ENST00000327906.3 Missense_Mutation SNP PCPG-TCGA-QR-A70X-Normal-SM-5EQG3 HSPG2 3339 ucsc.edu 37 1 22160353 22160353 + Missense_Mutation SNP A A G TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr1:22160353A>G ENST00000374695.3 - 78.0 10865 c.10786T>C c.(10786-10788)Tgc>Cgc p.C3596R NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3596.0 Ig-like C2-type 22. angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) 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) 127.0 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) Palifermin(DB00039) GAGGCTATGCAGGGGAAGACA 0.572 0 69.0 54.0 59.0 1 22160353.0 2203.0 4300.0 6503.0 SO:0001583 missense M85289 CCDS30625.1 1p36.1-p35 2013-01-29 2007-02-16 2007-02-16 ENSG00000142798 ENSG00000142798 3339.0 3339.0 """Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 5273.0 protein-coding gene gene with protein product """perlecan proteoglycan""" 142461 """Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)""" SJS1 1685141, 11941538 Standard NM_005529 XM_005245863 Approved perlecan, PRCAN uc001bfj.3 P98160 OTTHUMG00000002674 ENST00000374695.3:c.10786T>C 1.__UNKNOWN__:g.22160353A>G ENSP00000363827:p.Cys3596Arg Q16287|Q5SZI3|Q9H3V5 __UNKNOWN__ CCDS30625.1 . . . . . . . . . . A 21.4 4.140145 0.77775 . . ENSG00000142798 ENST00000374695;ENST00000426143 D;D 0.94537 -1.99;-3.45 4.96 4.96 0.65561 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.42172 D 0.000757 D 0.98488 0.9496 H 0.99347 4.525 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.999 D 0.99282 1.0896 10 0.87932 D 0 . 13.7583 0.62950 1.0:0.0:0.0:0.0 . 1536;3596 Q59EG0;P98160 .;PGBM_HUMAN R 3596;148 ENSP00000363827:C3596R;ENSP00000392022:C148R ENSP00000363827:C3596R C - 1 0 HSPG2 22032940 1.000000 0.71417 1.000000 0.80357 0.973000 0.67179 8.534000 0.90620 1.986000 0.57962 0.260000 0.18958 TGC HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007598.1 - ENST00000374695.3 Missense_Mutation SNP PCPG-TCGA-QR-A70X-Normal-SM-5EQG3 NR1H2 7376 ucsc.edu 37 19 50885820 50885820 + Silent SNP G G A TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr19:50885820G>A ENST00000253727.5 + 10.0 1579 c.1344G>A c.(1342-1344)ctG>ctA p.L448L NR1H2_ENST00000411902.2_Silent_p.L351L|NR1H2_ENST00000542413.1_Silent_p.L179L|NR1H2_ENST00000599105.1_Silent_p.L404L|NR1H2_ENST00000598168.1_Silent_p.L418L|NR1H2_ENST00000593926.1_Silent_p.L448L NM_007121.5 NP_009052 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 448.0 Ligand-binding. {ECO:0000255}. cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8.0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) ACAAGAAGCTGCCGCCTCTGC 0.657 0 24.0 30.0 28.0 19 50885820.0 2055.0 4223.0 6278.0 SO:0001819 synonymous_variant U14534 CCDS42593.1, CCDS58673.1 19q13.3 2013-01-16 ENSG00000131408 7376.0 7376.0 """Nuclear hormone receptors""" 7965.0 protein-coding gene gene with protein product """liver X receptor-beta""" 600380 """ubiquitously-expressed nuclear receptor""" UNR 7782080, 7971966 Standard NM_007121 Approved NER, NER-I, RIP15, LXR-b uc010enw.4 P55055 ENST00000253727.5:c.1344G>A 19.__UNKNOWN__:g.50885820G>A A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1 __UNKNOWN__ CCDS42593.1 NR1H2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464724.2 + ENST00000253727.5 Silent SNP PCPG-TCGA-QR-A70X-Normal-SM-5EQG3 ZXDA 7789 broad.mit.edu 37 X 57935103 57935103 + Silent SNP A A G TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chrX:57935103A>G ENST00000358697.4 - 1.0 1964 c.1752T>C c.(1750-1752)ctT>ctC p.L584L NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 584.0 Required for transcriptional activation. positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37.0 TGCTGGGTGTAAGAGAATTTG 0.458 0 A 4,3810 0,0,4,1628,554 191.0 162.0 172.0 1752 1.6 0.9 X 172.0 2,6720 0,0,2,2426,1868 no coding-synonymous ZXDA NM_007156.4 0,0,6,4054,2422 GG,GA,G,AA,A 0.0298,0.1049,0.0569 584/800 57935103.0 6,10530 2186.0 4296.0 6482.0 SO:0001819 synonymous_variant L14787 CCDS14376.1 Xp11.21 2013-01-08 ENSG00000198205 ENSG00000198205 7789.0 7789.0 """Zinc fingers, C2H2-type""" 13198.0 protein-coding gene gene with protein product """zinc finger protein 896""" 300235.0 8268913 Standard NM_007156 NM_007156 Approved ZNF896 uc004dve.3 P98168 OTTHUMG00000021688 ENST00000358697.4:c.1752T>C X.__UNKNOWN__:g.57935103A>G Q9UJP7 __UNKNOWN__ CCDS14376.1 ZXDA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056925.1 - ENST00000358697.4 Silent SNP PCPG-TCGA-QR-A7IN-Normal-SM-5EQFD IL4R 3566 broad.mit.edu 37 16 27357864 27357864 + Silent SNP G G A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr16:27357864G>A ENST00000395762.2 + 6.0 697 c.438G>A c.(436-438)ccG>ccA p.P146P IL4R_ENST00000170630.2_Silent_p.P146P|IL4R_ENST00000543915.2_Silent_p.P146P|IL4R_ENST00000449195.1_Silent_p.P146P|IL4R_ENST00000380922.3_Silent_p.P131P NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 146.0 Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}. defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165) extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235) interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33.0 GGAGCAACCCGTATCCCCCTG 0.522 0 113.0 103.0 106.0 16 27357864.0 2197.0 4300.0 6497.0 SO:0001819 synonymous_variant X52425 CCDS10629.1, CCDS58441.1 16p12.1-p11.2 2008-05-14 ENSG00000077238 ENSG00000077238 3566.0 3566.0 """Interleukins and interleukin receptors"", ""CD molecules""" 6015.0 protein-coding gene gene with protein product 147781.0 1679753 Standard NM_000418 Approved CD124 uc010bxy.4 P24394 OTTHUMG00000097015 ENST00000395762.2:c.438G>A 16.__UNKNOWN__:g.27357864G>A B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188 __UNKNOWN__ CCDS10629.1 IL4R-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214104.4 + ENST00000395762.2 Silent SNP PCPG-TCGA-QR-A7IN-Normal-SM-5EQFD CYP4F8 11283 broad.mit.edu 37 19 15739116 15739116 + RNA SNP G G A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr19:15739116G>A ENST00000441682.2 + 0.0 1181 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26.0 CCTTAGGGACGACCTGGCCCA 0.607 0 84.0 91.0 89.0 19 15739116.0 2203.0 4300.0 6503.0 AF133298 CCDS74303.1 19p13.12 2013-11-11 2003-01-14 ENSG00000186526 ENSG00000186526 11283.0 11283.0 """Cytochrome P450s""" 2648.0 protein-coding gene gene with protein product 611545.0 """cytochrome P450, subfamily IVF, polypeptide 8""" 10405341 Standard NM_007253 NM_007253 Approved uc002nbi.3 P98187 OTTHUMG00000182386 ENST00000441682.2: 19.__UNKNOWN__:g.15739116G>A __UNKNOWN__ . . . . . . . . . . . 19.19 3.778874 0.70107 . . ENSG00000186526 ENST00000441682;ENST00000325723;ENST00000443973 . . . 3.45 3.45 0.39498 . 0.063242 0.64402 U 0.000010 T 0.65729 0.2719 . . . 0.39201 D 0.963147 D;D 0.60160 0.973;0.987 P;P 0.54401 0.751;0.751 T 0.77958 -0.2392 7 0.66056 D 0.02 . 12.4524 0.55684 0.0:0.0:1.0:0.0 . 186;374 B4DU85;P98187 .;CP4F8_HUMAN N 373;186;223 . ENSP00000314398:D186N D + 1 0 CYP4F8 15600116 1.000000 0.71417 0.999000 0.59377 0.987000 0.75469 8.260000 0.89857 1.753000 0.51906 0.543000 0.68304 GAC CYP4F8-201 KNOWN basic processed_transcript processed_transcript + ENST00000441682.2 RNA SNP PCPG-TCGA-QR-A7IN-Normal-SM-5EQFD MDC1 9656 broad.mit.edu 37 6 30672358 30672358 + Silent SNP G G T TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr6:30672358G>T ENST00000376406.3 - 10.0 5249 c.4602C>A c.(4600-4602)gcC>gcA p.A1534A MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.A1270A NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1534.0 Interaction with the PRKDC complex. DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573) chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022) breast(2)|kidney(1)|ovary(1) 4.0 GGAGCTCAGGGGCTGCGGGCA 0.592 Other conserved DNA damage response genes 0 120.0 138.0 132.0 6 30672358.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D79992 CCDS34384.1 6p21.3 2010-02-17 2009-06-12 ENSG00000137337 ENSG00000137337 9656.0 9656.0 21163.0 protein-coding gene gene with protein product 607593.0 10975465, 12607005 Standard NM_014641 NM_014641 Approved NFBD1, KIAA0170, Em:AB023051.5 uc003nrg.4 Q14676 OTTHUMG00000031075 ENST00000376406.3:c.4602C>A 6.__UNKNOWN__:g.30672358G>T A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2 __UNKNOWN__ CCDS34384.1 MDC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000076103.1 - ENST00000376406.3 Silent SNP PCPG-TCGA-QR-A7IN-Normal-SM-5EQFD EPAS1 2034 broad.mit.edu 37 2 46607403 46607403 + Missense_Mutation SNP C C T TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr2:46607403C>T ENST00000263734.3 + 12.0 2102 c.1592C>T c.(1591-1593)cCc>cTc p.P531L NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 531.0 NTAD. angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601) cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134) 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) 39.0 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) ACACTGGCACCCTATATCCCC 0.592 0 85.0 93.0 91.0 2 46607403.0 2203.0 4300.0 6503.0 SO:0001583 missense U81984 CCDS1825.1 2p21-p16 2013-05-21 ENSG00000116016 ENSG00000116016 2034.0 2034.0 """Basic helix-loop-helix proteins""" 3374.0 protein-coding gene gene with protein product """HIF-1 alpha-like factor""" 603349.0 9000051, 9079689, 18378852 Standard NM_001430 NM_001430 Approved MOP2, PASD2, HIF2A, HLF, bHLHe73 uc002ruv.3 Q99814 OTTHUMG00000128818 ENST00000263734.3:c.1592C>T 2.__UNKNOWN__:g.46607403C>T ENSP00000263734:p.Pro531Leu Q86VA2|Q99630 __UNKNOWN__ CCDS1825.1 . . . . . . . . . . C 31 5.063493 0.93898 . . ENSG00000116016 ENST00000263734 D 0.99511 -6.05 5.06 5.06 0.68205 . 0.000000 0.85682 D 0.000000 D 0.99444 0.9803 M 0.70595 2.14 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.98897 1.0775 10 0.87932 D 0 . 18.4411 0.90666 0.0:1.0:0.0:0.0 . 531 Q99814 EPAS1_HUMAN L 531 ENSP00000263734:P531L ENSP00000263734:P531L P + 2 0 EPAS1 46460907 1.000000 0.71417 1.000000 0.80357 0.960000 0.62799 7.814000 0.86154 2.361000 0.80049 0.491000 0.48974 CCC EPAS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250752.2 + ENST00000263734.3 Missense_Mutation SNP PCPG-TCGA-QR-A7IN-Normal-SM-5EQFD GPR128 84873 broad.mit.edu 37 3 100373746 100373746 + Missense_Mutation SNP C C G TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr3:100373746C>G ENST00000475887.1 + 6.0 831 c.562C>G c.(562-564)Ctc>Gtc p.L188V GPR128_ENST00000273352.3_Missense_Mutation_p.L483V|GPR128_ENST00000481506.1_3'UTR Q96K78 GP128_HUMAN G protein-coupled receptor 128 483.0 G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) 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) 56.0 GATTTTCAACCTCCTCTTTGT 0.323 Pancreas(87;185 1975 7223 18722) 0 106.0 101.0 103.0 3 100373746.0 2203.0 4300.0 6503.0 SO:0001583 missense AK027360 CCDS2938.1 3q12.3 2014-08-08 ENSG00000144820 ENSG00000144820 84873.0 84873.0 """-"", ""GPCR / Class B : Orphans""" 19241.0 protein-coding gene gene with protein product 612307.0 Standard NM_032787 Approved FLJ14454 uc003duc.3 Q96K78 OTTHUMG00000159083 ENST00000475887.1:c.562C>G 3.__UNKNOWN__:g.100373746C>G ENSP00000419788:p.Leu188Val Q14D94|Q86SQ2 __UNKNOWN__ . . . . . . . . . . C 15.35 2.807928 0.50421 . . ENSG00000144820 ENST00000273352;ENST00000475887 T;T 0.41065 1.01;1.01 5.48 1.24 0.21308 GPCR, family 2-like (1); 0.398747 0.22258 N 0.062458 T 0.39036 0.1063 L 0.61218 1.895 0.28574 N 0.910462 B;P 0.49185 0.095;0.92 B;P 0.48089 0.2;0.566 T 0.37709 -0.9694 10 0.62326 D 0.03 . 1.3738 0.02216 0.222:0.4554:0.1379:0.1847 . 188;483 E9PHI0;Q96K78 .;GP128_HUMAN V 483;188 ENSP00000273352:L483V;ENSP00000419788:L188V ENSP00000273352:L483V L + 1 0 GPR128 101856436 1.000000 0.71417 0.999000 0.59377 0.875000 0.50365 1.583000 0.36579 0.666000 0.31087 -0.175000 0.13238 CTC GPR128-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000353237.1 + ENST00000475887.1 Missense_Mutation SNP PCPG-TCGA-QR-A7IN-Normal-SM-5EQFD SRRM2 23524 broad.mit.edu 37 16 2815446 2815446 + Silent SNP T T A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr16:2815446T>A ENST00000301740.8 + 11.0 5466 c.4917T>A c.(4915-4917)ggT>ggA p.G1639G NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1639.0 Ser-rich. mRNA splicing, via spliceosome (GO:0000398) Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634) C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485) 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) 105.0 GCAGATCAGGTTCATCAAGCA 0.562 0 67.0 67.0 67.0 16 2815446.0 2198.0 4300.0 6498.0 SO:0001819 synonymous_variant AF201422 CCDS32373.1 16p13.3 2012-07-02 ENSG00000167978 ENSG00000167978 23524.0 23524.0 16639.0 protein-coding gene gene with protein product 606032.0 10668804, 11004489 Standard NM_016333 Approved SRm300, SRL300, KIAA0324, Cwc21 uc002crk.3 Q9UQ35 OTTHUMG00000177358 ENST00000301740.8:c.4917T>A 16.__UNKNOWN__:g.2815446T>A A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40 __UNKNOWN__ CCDS32373.1 SRRM2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000436411.1 + ENST00000301740.8 Silent SNP PCPG-TCGA-QR-A7IN-Normal-SM-5EQFD DNAJC7 7266 broad.mit.edu 37 17 40141571 40141571 + Missense_Mutation SNP T T C TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr17:40141571T>C ENST00000457167.4 - 7.0 840 c.604A>G c.(604-606)Att>Gtt p.I202V DNAJC7_ENST00000316603.7_Missense_Mutation_p.I146V|DNAJC7_ENST00000426588.3_Missense_Mutation_p.I146V NM_003315.3 NP_003306.3 Q99615 DNJC7_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 7 202.0 chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634) heat shock protein binding (GO:0031072) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1) 9.0 all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305) ATTCGTAGAATGTCACTGCAA 0.428 Colon(63;618 1117 8600 10857 19751) 0 167.0 160.0 163.0 17 40141571.0 1983.0 4168.0 6151.0 SO:0001583 missense U46571 CCDS45677.1, CCDS45678.1 17q11.2 2013-01-10 ENSG00000168259 7266.0 7266.0 """Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing""" 12392.0 protein-coding gene gene with protein product 601964.0 TTC2 8836031, 11147971 Standard NR_029431 Approved TPR2 uc002hyo.3 Q99615 ENST00000457167.4:c.604A>G 17.__UNKNOWN__:g.40141571T>C ENSP00000406463:p.Ile202Val Q7Z784 __UNKNOWN__ CCDS45677.1 . . . . . . . . . . T 9.482 1.098382 0.20552 . . ENSG00000168259 ENST00000457167;ENST00000426588;ENST00000316603 T;T;T 0.74842 -0.67;-0.88;-0.88 5.42 5.42 0.78866 Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1); 0.000000 0.85682 D 0.000000 T 0.59810 0.2221 N 0.25144 0.715 0.80722 D 1 B;B;B 0.15930 0.015;0.011;0.008 B;B;B 0.25614 0.062;0.028;0.028 T 0.55611 -0.8114 10 0.02654 T 1 -2.604 15.4721 0.75446 0.0:0.0:0.0:1.0 . 191;146;202 Q59EH7;Q7Z784;Q99615 .;.;DNJC7_HUMAN V 202;146;146 ENSP00000406463:I202V;ENSP00000394327:I146V;ENSP00000313311:I146V ENSP00000313311:I146V I - 1 0 DNAJC7 37395097 1.000000 0.71417 1.000000 0.80357 0.955000 0.61496 7.698000 0.84413 2.071000 0.62044 0.379000 0.24179 ATT DNAJC7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000453366.2 - ENST00000457167.4 Missense_Mutation SNP PCPG-TCGA-QR-A7IN-Normal-SM-5EQFD CHRNA9 55584 broad.mit.edu 37 4 40356467 40356467 + Missense_Mutation SNP G G A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr4:40356467G>A ENST00000310169.2 + 5.0 1509 c.1370G>A c.(1369-1371)cGa>cAa p.R457Q NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 457.0 detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268) acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33.0 Galantamine(DB00674)|Nicotine(DB00184) GTCATAGACCGATTCTTCATG 0.433 Esophageal Squamous(115;1297 1602 22235 25158 43327) 0 182.0 162.0 169.0 4 40356467.0 2203.0 4300.0 6503.0 SO:0001583 missense AF227732 CCDS3459.1 4p14 2012-02-11 2012-02-07 ENSG00000174343 ENSG00000174343 55584.0 55584.0 """Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic""" 14079.0 protein-coding gene gene with protein product """acetylcholine receptor, nicotinic, alpha 9 (neuronal)""" 605116.0 """cholinergic receptor, nicotinic, alpha polypeptide 9""" Standard NM_017581 Approved NACHRA9 uc003gva.2 Q9UGM1 OTTHUMG00000099375 ENST00000310169.2:c.1370G>A 4.__UNKNOWN__:g.40356467G>A ENSP00000312663:p.Arg457Gln Q14CY7|Q4W5A2|Q9NYV2 __UNKNOWN__ CCDS3459.1 . . . . . . . . . . G 35 5.437160 0.96168 . . ENSG00000174343 ENST00000310169 D 0.88818 -2.43 5.35 5.35 0.76521 Neurotransmitter-gated ion-channel transmembrane domain (2); 0.047328 0.85682 D 0.000000 D 0.96178 0.8754 H 0.97103 3.94 0.80722 D 1 D 0.67145 0.996 P 0.60173 0.87 D 0.97509 1.0065 10 0.87932 D 0 . 19.0761 0.93163 0.0:0.0:1.0:0.0 . 457 Q9UGM1 ACHA9_HUMAN Q 457 ENSP00000312663:R457Q ENSP00000312663:R457Q R + 2 0 CHRNA9 40051224 1.000000 0.71417 0.999000 0.59377 0.992000 0.81027 9.476000 0.97823 2.527000 0.85204 0.455000 0.32223 CGA CHRNA9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000216822.1 + ENST00000310169.2 Missense_Mutation SNP PCPG-TCGA-QR-A7IN-Normal-SM-5EQFD OSBPL6 114880 broad.mit.edu 37 2 179196280 179196280 + Splice_Site SNP G G A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr2:179196280G>A ENST00000392505.2 + 6.0 864 c.320G>A c.(319-321)cGt>cAt p.R107H OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000409045.3_Splice_Site_p.R107H|OSBPL6_ENST00000315022.2_Splice_Site_p.R86H|OSBPL6_ENST00000357080.4_Splice_Site_p.R107H|OSBPL6_ENST00000409631.1_Splice_Site_p.R107H|OSBPL6_ENST00000190611.4_Splice_Site_p.R107H|OSBPL6_ENST00000359685.3_Splice_Site_p.R107H NM_001201480.1 NP_001188409.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 107.0 PH. {ECO:0000255|PROSITE- ProRule:PRU00145}. lipid transport (GO:0006869) cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886) lipid binding (GO:0008289) 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) 46.0 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) TTCTTGCAGCGTTTTTTTGTC 0.363 0 234.0 234.0 234.0 2 179196280.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AF392448 CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1 2q32.1 2008-05-27 ENSG00000079156 ENSG00000079156 114880.0 114880.0 """Oxysterol binding proteins""" 16388.0 protein-coding gene gene with protein product """OSBP-related protein 6""" 606734.0 11483621 Standard NM_032523 NM_001201480 Approved ORP6 uc002uly.3 Q9BZF3 OTTHUMG00000132579 ENST00000392505.2:c.319-1G>A 2.__UNKNOWN__:g.179196280G>A B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1 __UNKNOWN__ CCDS56150.1 . . . . . . . . . . G 35 5.507353 0.96386 . . ENSG00000079156 ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022 T;T;T;T;T;T;T 0.43688 0.94;1.01;1.29;0.98;0.94;1.01;1.0 5.58 5.58 0.84498 Pleckstrin homology-type (1);Pleckstrin homology domain (2); 0.000000 0.85682 D 0.000000 T 0.77398 0.4124 H 0.96489 3.83 0.80722 D 1 D;D;D;D;D;D 0.89917 1.0;1.0;0.999;1.0;1.0;1.0 D;D;D;D;D;D 0.97110 1.0;0.998;0.994;0.998;0.991;0.996 D 0.84732 0.0746 10 0.87932 D 0 -9.5614 19.5679 0.95403 0.0:0.0:1.0:0.0 . 107;86;107;107;107;107 Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84 .;.;.;.;OSBL6_HUMAN;. H 107;107;107;107;107;107;86 ENSP00000376293:R107H;ENSP00000352713:R107H;ENSP00000349591:R107H;ENSP00000387248:R107H;ENSP00000190611:R107H;ENSP00000386885:R107H;ENSP00000318723:R86H ENSP00000190611:R107H R + 2 0 OSBPL6 178904526 1.000000 0.71417 0.995000 0.50966 0.995000 0.86356 9.781000 0.99029 2.611000 0.88343 0.655000 0.94253 CGT OSBPL6-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000334394.1 Missense_Mutation + ENST00000392505.2 Splice_Site SNP PCPG-TCGA-QR-A7IN-Normal-SM-5EQFD AHDC1 27245 broad.mit.edu 37 1 27876195 27876195 + Missense_Mutation SNP G G A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr1:27876195G>A ENST00000247087.5 - 5.0 3028 c.2432C>T c.(2431-2433)tCa>tTa p.S811L AHDC1_ENST00000374011.2_Missense_Mutation_p.S811L Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 811.0 Gly-rich. DNA binding (GO:0003677) 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) 42.0 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) GCCACGGCCTGAGGCTCCACT 0.657 0 40.0 45.0 44.0 1 27876195.0 2188.0 4274.0 6462.0 SO:0001583 missense AK125431 CCDS30652.1 1p36.13 2008-02-05 ENSG00000126705 ENSG00000126705 27245.0 27245.0 25230.0 protein-coding gene gene with protein product 615790.0 8619474, 9110174 Standard XM_005245848 Approved DJ159A19.3, RP1-159A19.1 uc009vsy.3 Q5TGY3 OTTHUMG00000003398 ENST00000247087.5:c.2432C>T 1.__UNKNOWN__:g.27876195G>A ENSP00000247087:p.Ser811Leu Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5 __UNKNOWN__ CCDS30652.1 . . . . . . . . . . G 12.81 2.048610 0.36181 . . ENSG00000126705 ENST00000247087;ENST00000374011 T;T 0.45668 0.89;0.89 5.88 5.88 0.94601 . 0.556823 0.15917 N 0.238281 T 0.33381 0.0861 N 0.14661 0.345 0.09310 N 1 B 0.18013 0.025 B 0.19666 0.026 T 0.34850 -0.9812 10 0.72032 D 0.01 -3.4164 19.0137 0.92884 0.0:0.0:1.0:0.0 . 811 Q5TGY3 AHDC1_HUMAN L 811 ENSP00000247087:S811L;ENSP00000363123:S811L ENSP00000247087:S811L S - 2 0 AHDC1 27748782 0.894000 0.30519 0.750000 0.31169 0.919000 0.55068 4.694000 0.61760 2.782000 0.95742 0.655000 0.94253 TCA AHDC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000009523.3 - ENST00000247087.5 Missense_Mutation SNP PCPG-TCGA-QR-A7IN-Normal-SM-5EQFD ADCY2 108 broad.mit.edu 37 5 7766829 7766829 + Silent SNP C C A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr5:7766829C>A ENST00000338316.4 + 17.0 2213 c.2124C>A c.(2122-2124)atC>atA p.I708I ADCY2_ENST00000537121.1_Silent_p.I528I NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 708.0 activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234) adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982) 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) 119.0 AGGAAACAATCCCTCCAACTG 0.393 0 118.0 115.0 116.0 5 7766829.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB028983 CCDS3872.2 5p15.3 2013-02-04 ENSG00000078295 ENSG00000078295 108.0 108.0 4.6.1.1 """Adenylate cyclases""" 233.0 protein-coding gene gene with protein product 103071.0 1427768 Standard NM_020546 NM_020546 Approved HBAC2, KIAA1060, AC2 uc003jdz.1 Q08462 OTTHUMG00000090476 ENST00000338316.4:c.2124C>A 5.__UNKNOWN__:g.7766829C>A B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2 __UNKNOWN__ CCDS3872.2 ADCY2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000206930.2 + ENST00000338316.4 Silent SNP PCPG-TCGA-QR-A7IN-Normal-SM-5EQFD CHEK2P2 0 broad.mit.edu 37 15 20496630 20496630 + RNA SNP G G A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr15:20496630G>A ENST00000555186.1 + 0.0 683 NR_038836.1 checkpoint kinase 2 pseudogene 2 TCATGAAGGGGAAGCCGAGGG 0.438 0 15q11.1 2011-11-11 ENSG00000259156 ENSG00000259156 646096.0 646096.0 43578.0 pseudogene pseudogene Standard NR_038836 NR_038836 Approved uc001ytf.1 OTTHUMG00000171660 ENST00000555186.1: 15.__UNKNOWN__:g.20496630G>A __UNKNOWN__ CHEK2P2-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000414654.1 + ENST00000555186.1 RNA SNP PCPG-TCGA-QR-A7IN-Normal-SM-5EQFD PSMC3 5702 broad.mit.edu 37 11 47444499 47444499 + Missense_Mutation SNP A A T TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr11:47444499A>T ENST00000298852.3 - 7.0 774 c.617T>A c.(616-618)aTg>aAg p.M206K PSMC3_ENST00000530912.1_Missense_Mutation_p.M164K|PSMC3_ENST00000602866.1_Missense_Mutation_p.M190K NM_002804.4 NP_002795.2 P17980 PRS6A_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 3 206.0 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032) cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1) 17.0 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) CTTGTGGTTCATTGGCAAGAC 0.597 0 102.0 102.0 102.0 11 47444499.0 2201.0 4298.0 6499.0 SO:0001583 missense M34079 CCDS7935.1 11p11.2 2010-04-21 ENSG00000165916 ENSG00000165916 5702.0 5702.0 """Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type""" 9549.0 protein-coding gene gene with protein product 186852.0 9048938, 9473509 Standard NM_002804 NM_002804 Approved TBP1, TBP-1 uc001nfh.2 P17980 OTTHUMG00000167692 ENST00000298852.3:c.617T>A 11.__UNKNOWN__:g.47444499A>T ENSP00000298852:p.Met206Lys B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3 __UNKNOWN__ CCDS7935.1 . . . . . . . . . . A 25.1 4.598424 0.87055 . . ENSG00000165916 ENST00000298852;ENST00000530912;ENST00000524447;ENST00000531051;ENST00000530887;ENST00000530651;ENST00000527906 D;D 0.94613 -3.47;-3.47 5.24 5.24 0.73138 . 0.000000 0.85682 D 0.000000 D 0.91016 0.7174 N 0.16307 0.4 0.80722 D 1 P;P 0.49090 0.919;0.856 P;B 0.46543 0.52;0.424 D 0.92694 0.6169 10 0.87932 D 0 -47.1287 15.1702 0.72865 1.0:0.0:0.0:0.0 . 164;206 E9PM69;P17980 .;PRS6A_HUMAN K 206;164;150;150;171;171;171 ENSP00000298852:M206K;ENSP00000433097:M164K ENSP00000298852:M206K M - 2 0 PSMC3 47401075 1.000000 0.71417 1.000000 0.80357 0.921000 0.55340 9.339000 0.96797 1.981000 0.57761 0.533000 0.62120 ATG PSMC3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000395660.2 - ENST00000298852.3 Missense_Mutation SNP PCPG-TCGA-QR-A7IN-Normal-SM-5EQFD SLC38A6 145389 broad.mit.edu 37 14 61486268 61486268 + Missense_Mutation SNP G G A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr14:61486268G>A ENST00000267488.4 + 5.0 489 c.373G>A c.(373-375)Gca>Aca p.A125T SLC38A6_ENST00000456840.2_Missense_Mutation_p.A102T|SLC38A6_ENST00000354886.2_Missense_Mutation_p.A125T NM_153811.2 NP_722518.2 Q8IZM9 S38A6_HUMAN solute carrier family 38, member 6 125.0 amino acid transport (GO:0006865)|sodium ion transport (GO:0006814) integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 21.0 OV - Ovarian serous cystadenocarcinoma(108;0.0981) GTTGGTGGTGGCAGGCACCAT 0.308 0 139.0 136.0 137.0 14 61486268.0 2203.0 4300.0 6503.0 SO:0001583 missense AF070578 CCDS9751.1, CCDS53900.1 14q23.1 2013-05-22 ENSG00000139974 ENSG00000139974 145389.0 145389.0 """Solute carriers""" 19863.0 protein-coding gene gene with protein product Standard NM_153811 Approved NAT-1 uc001xfh.2 Q8IZM9 OTTHUMG00000140335 ENST00000267488.4:c.373G>A 14.__UNKNOWN__:g.61486268G>A ENSP00000267488:p.Ala125Thr C9JWA6|Q86SY5 __UNKNOWN__ CCDS9751.1 . . . . . . . . . . G 20.1 3.933151 0.73442 . . ENSG00000139974 ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840;ENST00000526105 T;T;T;T;T 0.02498 4.27;4.27;4.27;4.27;4.27 5.87 5.87 0.94306 . 0.050714 0.85682 D 0.000000 T 0.17746 0.0426 M 0.79693 2.465 0.58432 D 0.999998 D;D;D 0.89917 1.0;0.999;0.999 D;D;D 0.75484 0.986;0.977;0.979 T 0.00026 -1.2314 10 0.51188 T 0.08 -2.5112 19.2108 0.93753 0.0:0.0:1.0:0.0 . 102;125;125 E7ETF2;Q8IZM9-2;Q8IZM9 .;.;S38A6_HUMAN T 125;125;120;102;71 ENSP00000346959:A125T;ENSP00000267488:A125T;ENSP00000395851:A120T;ENSP00000413863:A102T;ENSP00000451244:A71T ENSP00000267488:A125T A + 1 0 SLC38A6 60556021 1.000000 0.71417 1.000000 0.80357 0.626000 0.37791 6.161000 0.71868 2.778000 0.95560 0.650000 0.86243 GCA SLC38A6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276957.1 + ENST00000267488.4 Missense_Mutation SNP PCPG-TCGA-QR-A7IN-Normal-SM-5EQFD PRDM9 56979 broad.mit.edu 37 5 23527470 23527470 + Missense_Mutation SNP G G A TCGA-QR-A7IN-01A-11D-A35D-08 TCGA-QR-A7IN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 35c48d5c-7531-461c-886e-73c8c87b546f 7660362a-4837-4486-bd62-f508247ef5e2 g.chr5:23527470G>A ENST00000296682.3 + 11.0 2455 c.2273G>A c.(2272-2274)cGc>cAc p.R758H NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 758.0 meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleoplasm (GO:0005654) histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565) p.R758H(1) 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) 172.0 CGGGGCTTTCGCGATAAGTCA 0.572 HNSCC(3;0.000094) 1 Substitution - Missense(1) upper_aerodigestive_tract(1) 61.0 86.0 78.0 5 23527470.0 2108.0 4293.0 6401.0 SO:0001583 missense AF275816 CCDS43307.1 5p14.2 2014-06-03 ENSG00000164256 ENSG00000164256 56979.0 56979.0 """-"", ""Zinc fingers, C2H2-type""" 13994.0 protein-coding gene gene with protein product """PR-domain containing protein 9""" 609760.0 """minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)""" MSBP3 10668202, 2062643, 24634223 Standard NM_020227 NM_020227 Approved PFM6, ZNF899 uc003jgo.3 Q9NQV7 OTTHUMG00000161918 ENST00000296682.3:c.2273G>A 5.__UNKNOWN__:g.23527470G>A ENSP00000296682:p.Arg758His B4DX22|Q27Q50 __UNKNOWN__ CCDS43307.1 . . . . . . . . . . G 8.538 0.872598 0.17322 . . ENSG00000164256 ENST00000296682 T 0.36520 1.25 2.65 -0.287 0.12858 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.26376 0.0644 L 0.38953 1.18 0.09310 N 1 P 0.39116 0.66 B 0.32022 0.139 T 0.08027 -1.0742 9 0.59425 D 0.04 . 13.6102 0.62074 0.0:0.7866:0.2133:0.0 . 758 Q9NQV7 PRDM9_HUMAN H 758 ENSP00000296682:R758H ENSP00000296682:R758H R + 2 0 PRDM9 23563227 0.000000 0.05858 0.027000 0.17364 0.011000 0.07611 -0.776000 0.04674 -0.153000 0.11137 0.484000 0.47621 CGC PRDM9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000366375.1 + ENST00000296682.3 Missense_Mutation SNP PCPG-TCGA-QR-A7IN-Normal-SM-5EQFD TACC2 10579 broad.mit.edu 37 10 123843740 123843740 + Missense_Mutation SNP C C A TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr10:123843740C>A ENST00000369005.1 + 4.0 2065 c.1725C>A c.(1723-1725)agC>agA p.S575R TACC2_ENST00000334433.3_Missense_Mutation_p.S575R|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S575R|TACC2_ENST00000453444.2_Missense_Mutation_p.S575R|TACC2_ENST00000515603.1_Missense_Mutation_p.S575R|TACC2_ENST00000358010.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 575.0 astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634) nuclear hormone receptor binding (GO:0035257) 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) 83.0 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTGGTGACAGCCCTGGAGGAA 0.602 0 62.0 69.0 67.0 10 123843740.0 2203.0 4300.0 6503.0 SO:0001583 missense AF095791 CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1 10q26 2008-07-29 ENSG00000138162 ENSG00000138162 10579.0 10579.0 11523.0 protein-coding gene gene with protein product 605302.0 14767476 Standard XM_005269388 Approved AZU-1 uc001lfv.3 O95359 OTTHUMG00000019181 ENST00000369005.1:c.1725C>A 10.__UNKNOWN__:g.123843740C>A ENSP00000358001:p.Ser575Arg Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5 __UNKNOWN__ CCDS7626.1 . . . . . . . . . . C 10.67 1.414327 0.25465 . . ENSG00000138162 ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076 T;T;T;T;T 0.03065 4.07;4.06;4.06;4.07;4.06 5.0 3.16 0.36331 . 1.187430 0.06422 N 0.722484 T 0.03220 0.0094 N 0.14661 0.345 0.09310 N 1 B;B;B 0.26775 0.159;0.159;0.159 B;B;B 0.23574 0.047;0.047;0.047 T 0.44922 -0.9296 10 0.87932 D 0 -0.0241 7.6073 0.28110 0.0:0.8081:0.0:0.1919 . 575;575;575 E9PBC6;E7EMZ9;O95359 .;.;TACC2_HUMAN R 575;575;575;575;575;565 ENSP00000358001:S575R;ENSP00000424467:S575R;ENSP00000427618:S575R;ENSP00000334280:S575R;ENSP00000395048:S575R ENSP00000334280:S575R S + 3 2 TACC2 123833730 0.000000 0.05858 0.001000 0.08648 0.002000 0.02628 0.461000 0.21940 0.709000 0.31976 -0.258000 0.10820 AGC TACC2-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000090004.1 + ENST00000369005.1 Missense_Mutation SNP PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT IGSF22 283284 broad.mit.edu 37 11 18732256 18732256 + Nonsense_Mutation SNP G G A TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr11:18732256G>A ENST00000513874.1 - 16.0 2657 c.2518C>T c.(2518-2520)Cga>Tga p.R840* RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 838.0 Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56.0 TTCTTCCTTCGTTCTACAATG 0.567 0 77.0 77.0 77.0 11 18732256.0 1930.0 4128.0 6058.0 SO:0001587 stop_gained AK095113 CCDS41625.1, CCDS41625.2 11p15.1 2014-06-06 ENSG00000179057 ENSG00000179057 283284.0 283284.0 """Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 26750.0 protein-coding gene gene with protein product Standard NM_173588 NM_173588 Approved FLJ37794 uc009yht.2 Q8N9C0 OTTHUMG00000160502 ENST00000513874.1:c.2518C>T 11.__UNKNOWN__:g.18732256G>A ENSP00000421191:p.Arg840* A6NNA0|D6RGV7 __UNKNOWN__ CCDS41625.2 . . . . . . . . . . G 39 7.898750 0.98551 . . ENSG00000179057 ENST00000513874 . . . 4.29 -0.477 0.12097 . 0.297010 0.17745 U 0.163438 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 3.2318 0.06751 0.0954:0.1283:0.2409:0.5353 . . . . X 840 . ENSP00000322422:R739X R - 1 2 IGSF22 18688832 0.077000 0.21312 0.002000 0.10522 0.993000 0.82548 1.010000 0.29898 0.072000 0.16694 0.563000 0.77884 CGA IGSF22-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000360850.2 - ENST00000513874.1 Nonsense_Mutation SNP PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT LUM 4060 broad.mit.edu 37 12 91502054 91502054 + Missense_Mutation SNP G G A TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr12:91502054G>A ENST00000266718.4 - 2.0 1157 c.703C>T c.(703-705)Cgt>Tgt p.R235C LUM_ENST00000548071.1_5'UTR NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 235.0 carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578) collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201) p.R235C(1) central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24.0 TGAGATAAACGCAGATACTGC 0.403 1 Substitution - Missense(1) endometrium(1) 164.0 153.0 157.0 12 91502054.0 2203.0 4300.0 6503.0 SO:0001583 missense BT006707 CCDS9038.1 12q21.33 2014-06-13 ENSG00000139329 4060.0 4060.0 """Proteoglycans / Extracellular Matrix : Small leucine-rich repeats""" 6724.0 protein-coding gene gene with protein product """lumican proteoglycan""" 600616.0 LDC 7558030 Standard NM_002345 NM_002345 Approved SLRR2D uc001tbm.3 P51884 OTTHUMG00000170074 ENST00000266718.4:c.703C>T 12.__UNKNOWN__:g.91502054G>A ENSP00000266718:p.Arg235Cys B2R6R5|Q96QM7 __UNKNOWN__ CCDS9038.1 . . . . . . . . . . G 20.9 4.069027 0.76301 . . ENSG00000139329 ENST00000266718 T 0.57595 0.39 5.57 5.57 0.84162 . 0.000000 0.85682 D 0.000000 T 0.71298 0.3323 L 0.56396 1.775 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.72666 -0.4224 10 0.72032 D 0.01 -6.2831 19.5537 0.95331 0.0:0.0:1.0:0.0 . 235 P51884 LUM_HUMAN C 235 ENSP00000266718:R235C ENSP00000266718:R235C R - 1 0 LUM 90026185 1.000000 0.71417 1.000000 0.80357 0.971000 0.66376 5.784000 0.68990 2.614000 0.88457 0.557000 0.71058 CGT LUM-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407150.2 - ENST00000266718.4 Missense_Mutation SNP PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT ACTL8 81569 broad.mit.edu 37 1 18152586 18152586 + Missense_Mutation SNP C C T TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr1:18152586C>T ENST00000375406.1 + 3.0 889 c.673C>T c.(673-675)Cgt>Tgt p.R225C NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 225.0 epithelial cell differentiation (GO:0030855) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28.0 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) CCTGGACTTTCGTGAGAGGCA 0.597 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 48.0 52.0 50.0 1 18152586.0 2203.0 4300.0 6503.0 SO:0001583 missense AK057339 CCDS183.1 1p36.2-p35 2009-03-25 ENSG00000117148 ENSG00000117148 81569.0 81569.0 24018.0 protein-coding gene gene with protein product """cancer/testis antigen 57""" Standard NM_030812 NM_030812 Approved CT57 uc001bat.3 Q9H568 OTTHUMG00000002512 ENST00000375406.1:c.673C>T 1.__UNKNOWN__:g.18152586C>T ENSP00000364555:p.Arg225Cys 723.0 Q13104|Q96M75 __UNKNOWN__ CCDS183.1 . . . . . . . . . . C 11.53 1.665005 0.29604 . . ENSG00000117148 ENST00000375406 T 0.08008 3.14 4.07 -4.68 0.03309 . 2.015510 0.02199 N 0.062080 T 0.05456 0.0144 N 0.22421 0.69 0.09310 N 1 B 0.18461 0.028 B 0.09377 0.004 T 0.36817 -0.9732 10 0.87932 D 0 0.0 2.1038 0.03686 0.1422:0.2066:0.1406:0.5106 . 225 Q9H568 ACTL8_HUMAN C 225 ENSP00000364555:R225C ENSP00000364555:R225C R + 1 0 ACTL8 18025173 0.096000 0.21769 0.000000 0.03702 0.076000 0.17211 0.882000 0.28186 -1.024000 0.03338 0.591000 0.81541 CGT ACTL8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007143.1 + ENST00000375406.1 Missense_Mutation SNP PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT BAGE2 85319 broad.mit.edu 37 21 11039035 11039035 + RNA SNP A A G TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr21:11039035A>G ENST00000470054.1 - 0.0 1168 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 extracellular region (GO:0005576) 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) CAATTGTAGGAGTCATTTCAG 0.378 0 AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319.0 85319.0 15723.0 protein-coding gene gene with protein product """cancer/testis antigen family 2, member 2""" 12461691 Standard NM_182482 NM_182482 Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: 21.__UNKNOWN__:g.11039035A>G A8K925|Q08ER0 __UNKNOWN__ BAGE2-001 KNOWN basic processed_transcript pseudogene OTTHUMT00000157417.3 - ENST00000470054.1 RNA SNP PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT TTLL1 25809 broad.mit.edu 37 22 43465690 43465690 + Missense_Mutation SNP C C T TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr22:43465690C>T ENST00000266254.7 - 4.0 514 c.274G>A c.(274-276)Ggg>Agg p.G92R TTLL1_ENST00000331018.7_Missense_Mutation_p.G92R NM_012263.4 NP_036395.1 O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 92.0 TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}. axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095) cytoplasm (GO:0005737)|microtubule (GO:0005874) tubulin-glutamic acid ligase activity (GO:0070740) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1) 23.0 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) AGAGGACTCCCTTCTTTCTCC 0.428 0 210.0 208.0 209.0 22 43465690.0 2203.0 4300.0 6503.0 SO:0001583 missense AL096886 CCDS14043.1 22q13.1 2013-02-14 ENSG00000100271 ENSG00000100271 25809.0 25809.0 """Tubulin tyrosine ligase-like family""" 1312.0 protein-coding gene gene with protein product 608955.0 """tubulin tyrosine ligase-like 1""" C22orf7 10591208, 11054573 Standard NM_012263 NM_012263 Approved uc003bdi.3 O95922 OTTHUMG00000150699 ENST00000266254.7:c.274G>A 22.__UNKNOWN__:g.43465690C>T ENSP00000266254:p.Gly92Arg B2RDS7|Q9BR27|Q9NRS9|Q9UMU0 __UNKNOWN__ CCDS14043.1 . . . . . . . . . . C 16.01 3.001923 0.54254 . . ENSG00000100271 ENST00000331018;ENST00000266254 T;T 0.06371 3.31;3.56 5.89 5.89 0.94794 . 0.281698 0.40640 N 0.001043 T 0.15609 0.0376 M 0.73598 2.24 0.80722 D 1 B;B 0.21606 0.056;0.058 B;B 0.31337 0.115;0.128 T 0.01800 -1.1271 10 0.54805 T 0.06 . 20.2527 0.98410 0.0:1.0:0.0:0.0 . 92;92 O95922-4;O95922 .;TTLL1_HUMAN R 92 ENSP00000333734:G92R;ENSP00000266254:G92R ENSP00000266254:G92R G - 1 0 TTLL1 41795634 0.987000 0.35691 0.330000 0.25442 0.789000 0.44602 2.325000 0.43840 2.788000 0.95919 0.557000 0.71058 GGG TTLL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000319659.1 - ENST00000266254.7 Missense_Mutation SNP PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT HS1BP3 64342 broad.mit.edu 37 2 20818912 20818912 + Silent SNP C C T TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr2:20818912C>T ENST00000304031.3 - 7.0 1039 c.1014G>A c.(1012-1014)ccG>ccA p.P338P NM_022460.3 NP_071905.3 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 338.0 Pro-rich. phosphatidylinositol binding (GO:0035091) endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15.0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGGTATCACCGGCTTAGCTG 0.597 0 83.0 86.0 85.0 2 20818912.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS1700.1 2p24.1 2006-08-15 ENSG00000118960 ENSG00000118960 64342.0 64342.0 24979.0 protein-coding gene gene with protein product 609359.0 10590261, 15699368 Standard NM_022460 NM_022460 Approved HS1-BP3,FLJ14249 uc002rdw.1 Q53T59 OTTHUMG00000122099 ENST00000304031.3:c.1014G>A 2.__UNKNOWN__:g.20818912C>T B2RAW2|D6W529|Q86VC2|Q8N367 __UNKNOWN__ CCDS1700.1 HS1BP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000242863.1 - ENST00000304031.3 Silent SNP PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT DNAAF2 0 broad.mit.edu 37 14 50092335 50092335 + Silent SNP A A G TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr14:50092335A>G ENST00000298292.8 - 3.0 2519 c.2439T>C c.(2437-2439)agT>agC p.S813S DNAAF2_ENST00000406043.3_Silent_p.S765S NM_018139.2 NP_060609.2 Q9NVR5 KTU_HUMAN dynein, axonemal, assembly factor 2 813.0 axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526) cytoplasm (GO:0005737) kidney(1)|lung(4) 5.0 TGACCTGCACACTACCATCCT 0.333 0 156.0 145.0 149.0 14 50092335.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK001425 CCDS9691.2, CCDS45100.1 14q21.3 2012-05-03 2011-06-09 2011-06-09 ENSG00000165506 ENSG00000165506 55172.0 20188.0 protein-coding gene gene with protein product """kintoun""" 612517.0 """chromosome 14 open reading frame 104""" C14orf104 Standard NM_001083908 Approved FLJ10563, KTU, PF13, CILD10 uc001wws.4 Q9NVR5 OTTHUMG00000152331 ENST00000298292.8:c.2439T>C 14.__UNKNOWN__:g.50092335A>G B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5 __UNKNOWN__ CCDS9691.2 DNAAF2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000276813.1 - ENST00000298292.8 Silent SNP PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT KL 9365 broad.mit.edu 37 13 33638043 33638043 + Missense_Mutation SNP G G A TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr13:33638043G>A ENST00000380099.3 + 5.0 2767 c.2759G>A c.(2758-2760)cGc>cAc p.R920H KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 920.0 Glycosyl hydrolase-1 2. acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499) p.R920H(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41.0 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TTTAACGACCGCACAGCTCCG 0.418 1 Substitution - Missense(1) ovary(1) 162.0 161.0 161.0 13 33638043.0 2203.0 4300.0 6503.0 SO:0001583 missense AB005142 CCDS9347.1 13q12 2008-02-05 ENSG00000133116 ENSG00000133116 9365.0 9365.0 6344.0 protein-coding gene gene with protein product 604824.0 9464267 Standard NM_004795 Approved uc001uus.3 Q9UEF7 OTTHUMG00000017408 ENST00000380099.3:c.2759G>A 13.__UNKNOWN__:g.33638043G>A ENSP00000369442:p.Arg920His Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0 __UNKNOWN__ CCDS9347.1 . . . . . . . . . . G 14.14 2.446141 0.43429 . . ENSG00000133116 ENST00000380099 T 0.29917 1.55 5.33 4.48 0.54585 Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1); 0.122451 0.56097 D 0.000037 T 0.29524 0.0736 L 0.57536 1.79 0.35545 D 0.803359 P 0.46656 0.882 B 0.39379 0.298 T 0.47446 -0.9117 10 0.59425 D 0.04 -19.3595 11.0489 0.47876 0.1617:0.0:0.8383:0.0 . 920 Q9UEF7 KLOT_HUMAN H 920 ENSP00000369442:R920H ENSP00000369442:R920H R + 2 0 KL 32536043 0.868000 0.29978 0.947000 0.38551 0.024000 0.10985 1.421000 0.34815 1.242000 0.43836 0.655000 0.94253 CGC KL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045987.1 + ENST00000380099.3 Missense_Mutation SNP PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT PSG2 5670 broad.mit.edu 37 19 43585116 43585116 + Missense_Mutation SNP T T C TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr19:43585116T>C ENST00000406487.1 - 2.0 445 c.347A>G c.(346-348)gAc>gGc p.D116G NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 116.0 Ig-like V-type. cell migration (GO:0016477)|female pregnancy (GO:0007565) extracellular region (GO:0005576) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49.0 Prostate(69;0.00682) GGATCCTGCGTCCTCCCGGGT 0.453 0 106.0 107.0 106.0 19 43585116.0 2200.0 4278.0 6478.0 SO:0001583 missense CCDS12616.1 19q13.1-q13.2 2013-01-29 ENSG00000242221 ENSG00000242221 5670.0 5670.0 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 9519.0 protein-coding gene gene with protein product """pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8""" 176391.0 PSBG2 2377620 Standard NM_031246 NM_031246 Approved PSGGB, PSG1, CEA uc002ovr.3 P11465 OTTHUMG00000151547 ENST00000406487.1:c.347A>G 19.__UNKNOWN__:g.43585116T>C ENSP00000385706:p.Asp116Gly Q8TCD9|Q9UEA4|Q9UQ78 __UNKNOWN__ CCDS12616.1 . . . . . . . . . . N 10.41 1.342206 0.24339 . . ENSG00000242221 ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917 D 0.88046 -2.33 0.569 0.569 0.17340 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1); . . . . D 0.93729 0.7996 M 0.93016 3.37 0.09310 N 1 D;D 0.89917 1.0;0.985 D;D 0.87578 0.998;0.958 D 0.84359 0.0537 8 0.87932 D 0 . . . . . 116;116 B5MCM8;P11465 .;PSG2_HUMAN G 116 ENSP00000385706:D116G ENSP00000332984:D116G D - 2 0 PSG2 48276956 0.010000 0.17322 0.003000 0.11579 0.004000 0.04260 1.702000 0.37836 0.477000 0.27464 0.155000 0.16302 GAC PSG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000323083.1 - ENST00000406487.1 Missense_Mutation SNP PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT STX8 9482 broad.mit.edu 37 17 9153924 9153924 + Missense_Mutation SNP C C T TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr17:9153924C>T ENST00000306357.4 - 8.0 1109 c.682G>A c.(682-684)Gtg>Atg p.V228M STX8_ENST00000574431.1_Missense_Mutation_p.V117M NM_004853.2 NP_004844.1 Q9UNK0 STX8_HUMAN syntaxin 8 228.0 endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906) endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201) SNAP receptor activity (GO:0005484) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1) 12.0 GCAACAACCACGATAGCCACA 0.463 0 124.0 110.0 115.0 17 9153924.0 2202.0 4297.0 6499.0 SO:0001583 missense AF115323 CCDS32565.1 17p13.1 2012-05-25 ENSG00000170310 ENSG00000170310 9482.0 9482.0 11443.0 protein-coding gene gene with protein product 604203.0 9852078, 10198254 Standard NM_004853 NM_004853 Approved CARB uc002glx.3 Q9UNK0 OTTHUMG00000177844 ENST00000306357.4:c.682G>A 17.__UNKNOWN__:g.9153924C>T ENSP00000305255:p.Val228Met O60712|Q53XT8 __UNKNOWN__ CCDS32565.1 . . . . . . . . . . C 14.99 2.700791 0.48307 . . ENSG00000170310 ENST00000306357 . . . 5.1 5.1 0.69264 . 0.196490 0.43579 D 0.000544 T 0.63931 0.2553 M 0.78049 2.395 0.80722 D 1 D 0.58970 0.984 P 0.45474 0.482 T 0.71494 -0.4576 9 0.66056 D 0.02 -20.7714 15.8147 0.78592 0.0:1.0:0.0:0.0 . 228 Q9UNK0 STX8_HUMAN M 228 . ENSP00000305255:V228M V - 1 0 STX8 9094649 0.990000 0.36364 0.986000 0.45419 0.402000 0.30811 2.780000 0.47742 2.642000 0.89623 0.655000 0.94253 GTG STX8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000439206.3 - ENST00000306357.4 Missense_Mutation SNP PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT PRDM2 7799 broad.mit.edu 37 1 14106458 14106458 + Missense_Mutation SNP C C A TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr1:14106458C>A ENST00000235372.7 + 8.0 3024 c.2168C>A c.(2167-2169)gCa>gAa p.A723E PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.A723E|PRDM2_ENST00000343137.4_Missense_Mutation_p.A522E|PRDM2_ENST00000413440.1_Missense_Mutation_p.A522E|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 723.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55.0 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) TCTGCTCCTGCATCAATGTTG 0.473 0 100.0 97.0 98.0 1 14106458.0 2203.0 4300.0 6503.0 SO:0001583 missense U17838 CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1 1p36 2011-07-01 ENSG00000116731 ENSG00000116731 7799.0 7799.0 """Chromatin-modifying enzymes / K-methyltransferases""" 9347.0 protein-coding gene gene with protein product """retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B""" 601196.0 7538672 Standard NM_012231 NM_012231 Approved RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1 uc001avi.3 Q13029 OTTHUMG00000007917 ENST00000235372.7:c.2168C>A 1.__UNKNOWN__:g.14106458C>A ENSP00000235372:p.Ala723Glu B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9 __UNKNOWN__ CCDS150.1 . . . . . . . . . . C 13.53 2.265454 0.40095 . . ENSG00000116731 ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137 T;T;T;T 0.01629 4.84;4.72;4.73;4.73 5.61 5.61 0.85477 . 0.315841 0.30277 N 0.009981 T 0.07143 0.0181 L 0.51422 1.61 0.30078 N 0.809425 D;P;D;D 0.69078 0.994;0.933;0.997;0.996 P;B;P;P 0.62184 0.795;0.357;0.879;0.899 T 0.02424 -1.1161 10 0.38643 T 0.18 . 18.5649 0.91113 0.0:1.0:0.0:0.0 . 723;581;723;723 A8MW16;Q5THJ0;Q13029;Q13029-2 .;.;PRDM2_HUMAN;. E 723;723;723;522;522 ENSP00000235372:A723E;ENSP00000312352:A723E;ENSP00000411103:A522E;ENSP00000341621:A522E ENSP00000235372:A723E A + 2 0 PRDM2 13979045 0.995000 0.38212 0.781000 0.31783 0.966000 0.64601 3.097000 0.50251 2.793000 0.96121 0.655000 0.94253 GCA PRDM2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000021792.2 + ENST00000235372.7 Missense_Mutation SNP PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT PROS1 5627 broad.mit.edu 37 3 93646235 93646235 + Translation_Start_Site SNP C C A TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr3:93646235C>A ENST00000394236.3 - 2.0 409 c.93G>T c.(91-93)caG>caT p.Q31H PROS1_ENST00000407433.1_De_novo_Start_OutOfFrame NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 31.0 blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449) blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093) calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866) endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46.0 Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) CTTGTGAAGCCTGTTGCTTTG 0.318 0 62.0 60.0 61.0 3 93646235.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS2923.1 3q11.1 2013-06-03 ENSG00000184500 ENSG00000184500 5627.0 5627.0 9456.0 protein-coding gene gene with protein product 176880.0 PROS 214811, 1833851 Standard NM_000313 NM_000313 Approved uc003drb.4 P07225 OTTHUMG00000150354 ENST00000394236.3:c.93G>T 3.__UNKNOWN__:g.93646235C>A ENSP00000377783:p.Gln31His A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8 __UNKNOWN__ CCDS2923.1 . . . . . . . . . . C 1.618 -0.522310 0.04141 . . ENSG00000184500 ENST00000394236;ENST00000348974 D;D 0.92699 -2.67;-3.09 4.53 0.832 0.18867 Gamma-carboxyglutamic acid-rich (GLA) domain (1); 0.632548 0.16629 N 0.206133 T 0.71937 0.3399 N 0.01352 -0.895 0.80722 D 1 B 0.02656 0.0 B 0.01281 0.0 T 0.57596 -0.7784 10 0.19590 T 0.45 . 3.8604 0.08993 0.6574:0.1394:0.0775:0.1257 . 31 P07225 PROS_HUMAN H 31;63 ENSP00000377783:Q31H;ENSP00000330021:Q63H ENSP00000330021:Q63H Q - 3 2 PROS1 95128925 0.989000 0.36119 0.773000 0.31616 0.581000 0.36288 2.070000 0.41491 0.323000 0.23307 -0.558000 0.04189 CAG PROS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317762.1 - ENST00000394236.3 Missense_Mutation SNP PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT TLR4 7099 broad.mit.edu 37 9 120474689 120474689 + Missense_Mutation SNP G G T TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr9:120474689G>T ENST00000355622.6 + 3.0 384 c.283G>T c.(283-285)Gat>Tat p.D95Y TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.D55Y NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 95.0 activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888) 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) 103.0 Naloxone(DB01183) GACAATTGAAGATGGGGCATA 0.378 0 42.0 42.0 42.0 9 120474689.0 2203.0 4299.0 6502.0 SO:0001583 missense U88880 CCDS6818.1 9q33.1 2013-01-23 ENSG00000136869 ENSG00000136869 7099.0 7099.0 """CD molecules""" 11850.0 protein-coding gene gene with protein product 603030.0 9435236, 9237759 Standard NM_138554 NM_138554 Approved hToll, CD284, TLR-4, ARMD10 uc004bjz.4 O00206 OTTHUMG00000021046 ENST00000355622.6:c.283G>T 9.__UNKNOWN__:g.120474689G>T ENSP00000363089:p.Asp95Tyr A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57 __UNKNOWN__ CCDS6818.1 . . . . . . . . . . G 13.61 2.288304 0.40494 . . ENSG00000136869 ENST00000394487;ENST00000355622 T;T 0.59772 0.24;5.5 5.63 5.63 0.86233 . 0.083521 0.51477 D 0.000093 T 0.69214 0.3086 L 0.45422 1.42 0.50039 D 0.999844 D 0.63046 0.992 P 0.61397 0.888 T 0.70960 -0.4730 10 0.87932 D 0 . 19.6898 0.95996 0.0:0.0:1.0:0.0 . 95 O00206 TLR4_HUMAN Y 55;95 ENSP00000377997:D55Y;ENSP00000363089:D95Y ENSP00000363089:D95Y D + 1 0 TLR4 119514510 1.000000 0.71417 0.998000 0.56505 0.053000 0.15095 3.666000 0.54540 2.669000 0.90835 0.655000 0.94253 GAT TLR4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055549.3 + ENST00000355622.6 Missense_Mutation SNP PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT FAM63A 55793 broad.mit.edu 37 1 150975138 150975138 + Missense_Mutation SNP C C A TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr1:150975138C>A ENST00000361936.5 - 0.0 910 FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000361738.6_Missense_Mutation_p.V34F|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000493834.2_Intron NM_018379.4 NP_060849 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A extracellular vesicular exosome (GO:0070062) breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23.0 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGTTTACTAACCTCAGGGACT 0.517 0 30.0 30.0 30.0 1 150975138.0 2202.0 4292.0 6494.0 SO:0001623 5_prime_UTR_variant BC032321 CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1 1q21.2 2008-02-05 ENSG00000143409 ENSG00000143409 55793.0 55793.0 25648.0 protein-coding gene gene with protein product 10718198 Standard NM_018379 NM_001040217 Approved FLJ11280 uc010pcn.2 Q8N5J2 OTTHUMG00000035061 ENST00000361936.5:c.-45G>T 1.__UNKNOWN__:g.150975138C>A B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7 __UNKNOWN__ CCDS976.1 . . . . . . . . . . C 11.98 1.799353 0.31869 . . ENSG00000143409 ENST00000361738 T 0.50548 0.74 5.18 0.954 0.19595 . 1.506690 0.04677 N 0.411660 T 0.08492 0.0211 . . . 0.09310 N 1 B 0.06786 0.001 B 0.10450 0.005 T 0.15263 -1.0443 9 0.14252 T 0.57 -0.0576 1.9788 0.03422 0.1735:0.5036:0.1456:0.1774 . 34 Q8N5J2-3 . F 34 ENSP00000354669:V34F ENSP00000354669:V34F V - 1 0 FAM63A 149241762 0.001000 0.12720 0.008000 0.14137 0.039000 0.13416 0.538000 0.23160 0.284000 0.22305 -0.150000 0.13652 GTT FAM63A-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000411753.1 - ENST00000361936.5 5'UTR SNP PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT RGS22 26166 broad.mit.edu 37 8 101076229 101076229 + Frame_Shift_Del DEL T T - TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr8:101076229delT ENST00000523437.1 - 8.0 771 c.731delA c.(730-732)aagfs p.K244fs RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs|RGS22_ENST00000360863.6_Frame_Shift_Del_p.K256fs Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 256.0 positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTPase activator activity (GO:0005096) 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) 68.0 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGATGGGTCCTTTTTTGTCCT 0.328 0 132.0 137.0 136.0 8 101076229.0 1803.0 4063.0 5866.0 SO:0001589 frameshift_variant AY009106 CCDS43758.1, CCDS69521.1, CCDS75775.1 8q22.2 2014-01-21 2007-08-14 ENSG00000132554 ENSG00000132554 26166.0 26166.0 """Regulators of G-protein signaling""" 24499.0 protein-coding gene gene with protein product 615650.0 """regulator of G-protein signalling 22""" Standard NM_015668 XM_005250856 Approved DKFZP434I092, PRTD-NY2, CT145 uc003yjb.1 Q8NE09 OTTHUMG00000164802 ENST00000523437.1:c.731delA 8.__UNKNOWN__:g.101076229delT ENSP00000428212:p.Lys244fs A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6 __UNKNOWN__ RGS22-006 NOVEL basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000380369.1 - ENST00000523437.1 Frame_Shift_Del DEL PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT BCOR 54880 bcgsc.ca 37 X 39932962 39932962 + Missense_Mutation SNP C C T TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chrX:39932962C>T ENST00000378444.4 - 4.0 1865 c.1637G>A c.(1636-1638)cGc>cAc p.R546H BCOR_ENST00000397354.3_Missense_Mutation_p.R546H|BCOR_ENST00000378455.4_Missense_Mutation_p.R546H|BCOR_ENST00000342274.4_Missense_Mutation_p.R546H NM_001123385.1 NP_001116857.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 546.0 heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) 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) 126.0 GCCGCCCATGCGCGGGCATGA 0.577 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic Rec yes X Xp11.4 54880.0 BCL6 corepressor yes 0 112.0 69.0 84.0 X 39932962.0 2202.0 4300.0 6502.0 SO:0001583 missense AF317391 CCDS14250.1, CCDS48092.1, CCDS48093.1 Xp11.4 2014-09-17 2010-06-10 ENSG00000183337 ENSG00000183337 54880.0 54880.0 """Ankyrin repeat domain containing""" 20893.0 protein-coding gene gene with protein product 300485 """BCL6 co-repressor""" 10898795 Standard NM_017745 NM_017745 Approved FLJ20285, KIAA1575 uc004den.4 Q6W2J9 OTTHUMG00000024100 ENST00000378444.4:c.1637G>A X.__UNKNOWN__:g.39932962C>T ENSP00000367705:p.Arg546His D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2 __UNKNOWN__ CCDS48093.1 . . . . . . . . . . C 15.72 2.917301 0.52546 . . ENSG00000183337 ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200 T;T;T;T;T 0.21932 1.98;1.98;1.98;1.98;1.98 5.6 5.6 0.85130 . . . . . T 0.37758 0.1015 L 0.29908 0.895 0.40047 D 0.975726 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.87578 0.998;0.998;0.996;0.998 T 0.26883 -1.0090 9 0.87932 D 0 -19.2393 18.6437 0.91404 0.0:1.0:0.0:0.0 . 546;546;546;546 Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2 .;.;BCOR_HUMAN;. H 546 ENSP00000367716:R546H;ENSP00000380512:R546H;ENSP00000367705:R546H;ENSP00000345923:R546H;ENSP00000384485:R546H ENSP00000345923:R546H R - 2 0 BCOR 39817906 1.000000 0.71417 1.000000 0.80357 0.548000 0.35241 4.549000 0.60726 2.346000 0.79739 0.600000 0.82982 CGC BCOR-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000060666.2 - ENST00000378444.4 Missense_Mutation SNP PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT Unknown 0 bcgsc.ca 37 9 89699163 89699163 + RNA SNP G G A TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr9:89699163G>A RP11-276H19.2 (42122 upstream) : C9orf170 (64395 downstream) CGCAGGTATGGATACTTGCTG 0.597 0 SO:0001628 intergenic_variant 9.__UNKNOWN__:g.89699163G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT PTAR1 375743 ucsc.edu 37 9 72347109 72347109 + Silent SNP A A G TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr9:72347109A>G ENST00000340434.4 - 5.0 591 c.588T>C c.(586-588)aaT>aaC p.N196N PTAR1_ENST00000377200.5_Silent_p.N117N NM_001099666.1 NP_001093136.1 Q7Z6K3 PTAR1_HUMAN protein prenyltransferase alpha subunit repeat containing 1 196.0 protein prenylation (GO:0018342) protein prenyltransferase activity (GO:0008318) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2) 5.0 GGGACCAAGCATTATAGTTGC 0.493 0 118.0 109.0 112.0 9 72347109.0 1973.0 4149.0 6122.0 SO:0001819 synonymous_variant BC053622 CCDS47978.1 9q21.13 2008-10-01 ENSG00000188647 ENSG00000188647 375743.0 375743.0 """Prenyltransferase alpha subunit repeat containing""" 30449.0 protein-coding gene gene with protein product 12477932 Standard NM_001099666 NM_001099666 Approved uc004ahj.4 Q7Z6K3 OTTHUMG00000019982 ENST00000340434.4:c.588T>C 9.__UNKNOWN__:g.72347109A>G Q5T7V5|Q5T7V6 __UNKNOWN__ CCDS47978.1 PTAR1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052582.4 - ENST00000340434.4 Silent SNP PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT VPS4A 27183 ucsc.edu 37 16 69355038 69355038 + Missense_Mutation SNP C C T TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr16:69355038C>T ENST00000564399.1 + 0.0 43 VPS4A_ENST00000254950.11_Silent_p.H312H|COG8_ENST00000564419.1_Intron vacuolar protein sorting 4 homolog A (S. cerevisiae) NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3) 7.0 Ovarian(137;0.101) GCACTCCCCACAACCTCACGG 0.597 0 27.0 31.0 30.0 16 69355038.0 2194.0 4297.0 6491.0 SO:0001624 3_prime_UTR_variant AF112215 CCDS45517.1 16q23.1 2010-04-21 2006-04-04 ENSG00000132612 ENSG00000132612 27183.0 27183.0 """ATPases / AAA-type""" 13488.0 protein-coding gene gene with protein product 609982 """vacuolar protein sorting 4A (yeast homolog)"", ""vacuolar protein sorting 4A (yeast)""" 10637304, 11563910 Standard NM_013245 NM_013245 Approved VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A uc002eww.3 Q9UN37 ENST00000564399.1:c.*40C>T 16.__UNKNOWN__:g.69355038C>T __UNKNOWN__ VPS4A-003 PUTATIVE basic|exp_conf processed_transcript protein_coding OTTHUMT00000430565.1 + ENST00000564399.1 3'UTR SNP PCPG-TCGA-QR-A7IP-Normal-SM-5EQGT RPS6KA5 9252 broad.mit.edu 37 14 91338482 91338482 + Missense_Mutation SNP G G T TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr14:91338482G>T ENST00000261991.3 - 17.0 2518 c.2345C>A c.(2344-2346)cCc>cAc p.P782H RPS6KA5_ENST00000536315.2_Missense_Mutation_p.P703H NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 782.0 axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24.0 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) AGGATTGCTGGGCTGCAGTGT 0.522 0 135.0 121.0 126.0 14 91338482.0 2203.0 4300.0 6503.0 SO:0001583 missense AF074393 CCDS9893.1, CCDS45149.1 14q31-q32.1 2011-04-05 2002-08-29 ENSG00000100784 9252.0 9252.0 10434.0 protein-coding gene gene with protein product 603607.0 """ribosomal protein S6 kinase, 90kD, polypeptide 5""" 9687510, 10702687 Standard NM_004755 NM_004755 Approved MSK1, RLPK uc001xys.2 O75582 ENST00000261991.3:c.2345C>A 14.__UNKNOWN__:g.91338482G>T ENSP00000261991:p.Pro782His O95316|Q96AF7 __UNKNOWN__ CCDS9893.1 . . . . . . . . . . G 19.78 3.891211 0.72524 . . ENSG00000100784 ENST00000261991;ENST00000536315 T;T 0.68331 -0.32;-0.31 5.25 5.25 0.73442 Protein kinase-like domain (1); 0.059810 0.64402 D 0.000002 T 0.70116 0.3187 L 0.33485 1.01 0.80722 D 1 D 0.63046 0.992 P 0.54401 0.751 T 0.73949 -0.3821 10 0.87932 D 0 . 19.2225 0.93803 0.0:0.0:1.0:0.0 . 782 O75582 KS6A5_HUMAN H 782;703 ENSP00000261991:P782H;ENSP00000442803:P703H ENSP00000261991:P782H P - 2 0 RPS6KA5 90408235 1.000000 0.71417 0.966000 0.40874 0.476000 0.33039 6.278000 0.72614 2.611000 0.88343 0.655000 0.94253 CCC RPS6KA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000411442.2 - ENST00000261991.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ PKN1 5585 broad.mit.edu 37 19 14574926 14574926 + Silent SNP G G A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr19:14574926G>A ENST00000242783.6 + 12.0 1857 c.1692G>A c.(1690-1692)caG>caA p.Q564Q PKN1_ENST00000342216.4_Silent_p.Q570Q NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 564.0 activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351) cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886) androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31.0 GCTCACCTCAGAAGAGCTCGC 0.647 NSCLC(185;2539 2965 10733 52867) 0 69.0 73.0 71.0 19 14574926.0 2037.0 4187.0 6224.0 SO:0001819 synonymous_variant S75546 CCDS42513.1, CCDS42514.1 19p13.12 2008-05-14 2004-07-01 2004-07-01 ENSG00000123143 ENSG00000123143 5585.0 5585.0 9405.0 protein-coding gene gene with protein product 601032.0 """protein kinase C-like 1""" PRKCL1 9570957 Standard NM_002741, NM_213560 NM_002741 Approved DBK, PRK1, PKN, MGC46204, PAK1 uc002myq.3 Q16512 OTTHUMG00000039611 ENST00000242783.6:c.1692G>A 19.__UNKNOWN__:g.14574926G>A A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44 __UNKNOWN__ CCDS42513.1 PKN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000095510.1 + ENST00000242783.6 Silent SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ OLIG3 167826 broad.mit.edu 37 6 137814559 137814559 + Missense_Mutation SNP G G A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr6:137814559G>A ENST00000367734.2 - 1.0 972 c.749C>T c.(748-750)cCg>cTg p.P250L NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 250.0 Poly-Pro. spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476) nucleus (GO:0005634) DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106) endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11.0 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) GGACAGGTGCGGCGGCGGCGG 0.716 0 6.0 7.0 7.0 6 137814559.0 1959.0 3967.0 5926.0 SO:0001583 missense AK096362 CCDS5186.1 6q23.3 2013-05-21 ENSG00000177468 ENSG00000177468 167826.0 167826.0 """Basic helix-loop-helix proteins""" 18003.0 protein-coding gene gene with protein product 609323.0 Standard NM_175747 NM_175747 Approved Bhlhb7, bHLHe20 uc003qhp.1 Q7RTU3 OTTHUMG00000015657 ENST00000367734.2:c.749C>T 6.__UNKNOWN__:g.137814559G>A ENSP00000356708:p.Pro250Leu Q8N8Q0 __UNKNOWN__ CCDS5186.1 . . . . . . . . . . G 21.0 4.084303 0.76642 . . ENSG00000177468 ENST00000367734 D 0.99466 -5.95 5.6 5.6 0.85130 . 0.000000 0.85682 D 0.000000 D 0.98579 0.9525 L 0.40543 1.245 0.80722 D 1 D 0.71674 0.998 P 0.56088 0.791 D 0.99568 1.0970 10 0.16420 T 0.52 -1.2297 18.5888 0.91200 0.0:0.0:1.0:0.0 . 250 Q7RTU3 OLIG3_HUMAN L 250 ENSP00000356708:P250L ENSP00000356708:P250L P - 2 0 OLIG3 137856252 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 9.042000 0.93793 2.619000 0.88677 0.650000 0.86243 CCG OLIG3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042405.1 - ENST00000367734.2 Missense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ FDXR 2232 broad.mit.edu 37 17 72868221 72868221 + Silent SNP G G A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr17:72868221G>A ENST00000583917.1 - 2.0 187 c.117C>T c.(115-117)ccC>ccT p.P39P FDXR_ENST00000293195.5_Silent_p.P39P|FDXR_ENST00000442102.2_Silent_p.P39P|FDXR_ENST00000455107.2_5'UTR|FDXR_ENST00000420580.2_Silent_p.P39P|FDXR_ENST00000582944.1_Silent_p.P39P|FDXR_ENST00000413947.2_Silent_p.P70P|FDXR_ENST00000581530.1_Silent_p.P39P P22570 ADRO_HUMAN ferredoxin reductase 39.0 cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16.0 all_lung(278;0.172)|Lung NSC(278;0.207) Flavin adenine dinucleotide(DB03147) CACAGATCTGGGGGGTCTTCT 0.547 0 49.0 49.0 49.0 17 72868221.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant J03826 CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1 17q25.1 2013-06-18 ENSG00000161513 ENSG00000161513 2232.0 2232.0 1.18.1.6 3642.0 protein-coding gene gene with protein product """adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase""" 103270.0 ADXR 2969697 Standard NM_004110 NM_001258014 Approved uc010wrl.2 P22570 OTTHUMG00000179026 ENST00000583917.1:c.117C>T 17.__UNKNOWN__:g.72868221G>A B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12 __UNKNOWN__ FDXR-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000444456.1 - ENST00000583917.1 Silent SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ HECTD1 25831 broad.mit.edu 37 14 31581747 31581747 + Missense_Mutation SNP T T A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr14:31581747T>A ENST00000399332.1 - 35.0 6641 c.6153A>T c.(6151-6153)gaA>gaT p.E2051D HECTD1_ENST00000553700.1_Missense_Mutation_p.E2051D NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 2051.0 K-box. neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|nucleus (GO:0005634) ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842) breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70.0 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) GTGCCAATGGTTCCTGCGAAT 0.378 0 54.0 52.0 52.0 14 31581747.0 1892.0 4114.0 6006.0 SO:0001583 missense AB032957 CCDS41939.1 14q12 2013-01-10 2012-02-23 ENSG00000092148 ENSG00000092148 25831.0 25831.0 """Ankyrin repeat domain containing""" 20157.0 protein-coding gene gene with protein product """HECT domain containing 1""" 10574461 Standard XM_005267502 Approved KIAA1131 uc001wrc.1 Q9ULT8 OTTHUMG00000170670 ENST00000399332.1:c.6153A>T 14.__UNKNOWN__:g.31581747T>A ENSP00000382269:p.Glu2051Asp D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7 __UNKNOWN__ CCDS41939.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 4.745|4.745 0.138497|0.138497 0.09083|0.09083 .|. .|. ENSG00000092148|ENSG00000092148 ENST00000553700;ENST00000261312;ENST00000399332|ENST00000554882 T;T|. 0.07216|. 3.21;3.21|. 5.74|5.74 -2.36|-2.36 0.06663|0.06663 .|. 0.000000|. 0.64402|. U|. 0.000001|. T|T 0.33440|0.33440 0.0863|0.0863 N|N 0.11427|0.11427 0.14|0.14 0.52501|0.52501 D|D 0.999952|0.999952 P|. 0.52842|. 0.956|. D|. 0.65010|. 0.931|. T|T 0.07770|0.07770 -1.0755|-1.0755 10|5 0.02654|. T|. 1|. -16.0074|-16.0074 12.4911|12.4911 0.55901|0.55901 0.0:0.4458:0.0:0.5542|0.0:0.4458:0.0:0.5542 .|. 2051|. Q9ULT8|. HECD1_HUMAN|. D|I 2051;2053;2051|417 ENSP00000450697:E2051D;ENSP00000382269:E2051D|. ENSP00000261312:E2053D|. E|N -|- 3|2 2|0 HECTD1|HECTD1 30651498|30651498 1.000000|1.000000 0.71417|0.71417 0.991000|0.991000 0.47740|0.47740 0.678000|0.678000 0.39670|0.39670 0.747000|0.747000 0.26290|0.26290 -0.402000|-0.402000 0.07633|0.07633 0.460000|0.460000 0.39030|0.39030 GAA|AAC HECTD1-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000409942.1 - ENST00000399332.1 Missense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ BAG3 9531 broad.mit.edu 37 10 121436654 121436654 + Missense_Mutation SNP G G A rs144678100 byFrequency TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr10:121436654G>A ENST00000369085.3 + 4.0 1894 c.1588G>A c.(1588-1590)Gtg>Atg p.V530M NM_004281.3 NP_004272.2 O95817 BAG3_HUMAN BCL2-associated athanogene 3 530.0 brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510) cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018) endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20.0 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) GATGGGTGCCGTGGCAGCAGA 0.542 0 G MET/VAL 0,4406 0,0,2203 87.0 86.0 87.0 1588 -10.7 0.0 10 dbSNP_134 87.0 4,8596 3.7+/-12.6 0,4,4296 yes missense BAG3 NM_004281.3 21 0,4,6499 AA,AG,GG 0.0465,0.0,0.0308 benign 530/576 121436654.0 4,13002 2203.0 4300.0 6503.0 SO:0001583 missense AF095193 CCDS7615.1 10q25.2-q26.2 2014-09-17 ENSG00000151929 ENSG00000151929 9531.0 9531.0 939.0 protein-coding gene gene with protein product 603883.0 9873016, 18094623 Standard NM_004281 XM_005270287 Approved uc001lem.3 O95817 OTTHUMG00000019155 ENST00000369085.3:c.1588G>A 10.__UNKNOWN__:g.121436654G>A ENSP00000358081:p.Val530Met A8K5L8|Q3B763|Q9NT20|Q9P120 __UNKNOWN__ CCDS7615.1 . . . . . . . . . . G 5.217 0.225469 0.09916 0.0 4.65E-4 ENSG00000151929 ENST00000369085 T 0.76316 -1.01 5.35 -10.7 0.00240 . 1.752420 0.02182 N 0.060543 T 0.52403 0.1732 N 0.04880 -0.145 0.09310 N 1 B;B 0.10296 0.003;0.003 B;B 0.06405 0.002;0.002 T 0.48468 -0.9033 10 0.41790 T 0.15 2.3049 7.6452 0.28316 0.1912:0.1764:0.5446:0.0878 . 530;530 O95817;Q53GY1 BAG3_HUMAN;. M 530 ENSP00000358081:V530M ENSP00000358081:V530M V + 1 0 BAG3 121426644 0.000000 0.05858 0.000000 0.03702 0.539000 0.34962 -2.647000 0.00860 -2.394000 0.00583 -1.510000 0.00946 GTG BAG3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050662.1 + ENST00000369085.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ TBC1D8B 54885 broad.mit.edu 37 X 106082536 106082536 + Splice_Site SNP A A G TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chrX:106082536A>G ENST00000357242.5 + 8.0 1377 c.e8-1 TBC1D8B_ENST00000310452.2_Splice_Site|TBC1D8B_ENST00000276175.3_Intron NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097) 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) 47.0 TTTCTTTTTCAGCTTGCTATT 0.363 0 141.0 131.0 134.0 X 106082536.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AK123957 CCDS14522.1, CCDS14523.1 Xq22.3 2013-01-10 ENSG00000133138 ENSG00000133138 54885.0 54885.0 """EF-hand domain containing""" 24715.0 protein-coding gene gene with protein product 8889548 Standard NM_017752 NM_017752 Approved FLJ20298, RP11-321G1.1 uc004emo.3 Q0IIM8 OTTHUMG00000022152 ENST00000357242.5:c.1204-1A>G X.__UNKNOWN__:g.106082536A>G B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3 __UNKNOWN__ CCDS14522.1 . . . . . . . . . . A 14.94 2.684030 0.47991 . . ENSG00000133138 ENST00000357242;ENST00000310452 . . . 5.45 5.45 0.79879 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 11.8539 0.52427 1.0:0.0:0.0:0.0 . . . . . -1 . . . + . . TBC1D8B 105969192 1.000000 0.71417 1.000000 0.80357 0.570000 0.35934 5.667000 0.68067 1.818000 0.53035 0.417000 0.27973 . TBC1D8B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000057807.2 Intron + ENST00000357242.5 Splice_Site SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ GLOD4 51031 broad.mit.edu 37 17 680227 680227 + Splice_Site SNP G G T TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr17:680227G>T ENST00000301329.6 - 3.0 227 c.142C>A c.(142-144)Cct>Act p.P48T GLOD4_ENST00000301328.5_Splice_Site_p.P63T|GLOD4_ENST00000536578.1_Splice_Site_p.P39T NM_016080.3 NP_057164.3 Q9HC38 GLOD4_HUMAN glyoxalase domain containing 4 63.0 extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) endometrium(1)|large_intestine(1)|prostate(1) 3.0 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) CCATCATAAGGCCTAGAAAAT 0.453 0 111.0 96.0 101.0 17 680227.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AF177342 CCDS32520.1 17p13.3 2008-02-05 2007-03-14 2007-03-14 ENSG00000167699 51031.0 51031.0 14111.0 protein-coding gene gene with protein product """chromosome 17 open reading frame 25""" C17orf25 11642406, 12528892 Standard NM_016080 NM_016080 Approved CGI-150, HC71 uc002fru.3 Q9HC38 ENST00000301329.6:c.141-1C>A 17.__UNKNOWN__:g.680227G>T D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1 __UNKNOWN__ CCDS32520.1 . . . . . . . . . . G 27.9 4.872655 0.91587 . . ENSG00000167699 ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578 T;T;T 0.62232 0.05;0.04;0.04 5.45 5.45 0.79879 . 0.000000 0.85682 D 0.000000 T 0.71384 0.3333 L 0.31207 0.915 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;0.996;1.0 T 0.74697 -0.3578 10 0.87932 D 0 -11.4865 18.2547 0.90015 0.0:0.0:1.0:0.0 . 39;63;48 B7Z403;Q9HC38;Q9HC38-2 .;GLOD4_HUMAN;. T 48;251;63;39 ENSP00000301329:P48T;ENSP00000301328:P63T;ENSP00000444315:P39T ENSP00000301328:P63T P - 1 0 GLOD4 626977 1.000000 0.71417 1.000000 0.80357 0.981000 0.71138 9.492000 0.97957 2.549000 0.85964 0.655000 0.94253 CCT GLOD4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000437188.3 Missense_Mutation - ENST00000301329.6 Splice_Site SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ DHTKD1 55526 broad.mit.edu 37 10 12162226 12162226 + Missense_Mutation SNP C C G TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr10:12162226C>G ENST00000263035.4 + 16.0 2680 c.2618C>G c.(2617-2619)tCg>tGg p.S873W NM_018706.5 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 873.0 cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099) mitochondrion (GO:0005739) oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976) 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) 44.0 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) GGTCCGTGGTCGTTTGTTTCT 0.443 0 216.0 200.0 206.0 10 12162226.0 2203.0 4300.0 6503.0 SO:0001583 missense BC002477 CCDS7087.1 10p14 2003-11-24 ENSG00000181192 ENSG00000181192 55526.0 55526.0 23537.0 protein-coding gene gene with protein product 614984.0 10997877 Standard NM_018706 NM_018706 Approved KIAA1630, MGC3090, DKFZP762M115 uc001ild.5 Q96HY7 OTTHUMG00000017677 ENST00000263035.4:c.2618C>G 10.__UNKNOWN__:g.12162226C>G ENSP00000263035:p.Ser873Trp Q68CU5|Q9BUM8|Q9HCE2 __UNKNOWN__ CCDS7087.1 . . . . . . . . . . C 18.15 3.560696 0.65538 . . ENSG00000181192 ENST00000263035 T 0.05649 3.41 5.33 -10.3 0.00346 . 0.442893 0.28031 N 0.016880 T 0.09686 0.0238 M 0.73372 2.23 0.53688 D 0.99997 P 0.49783 0.928 P 0.52909 0.713 T 0.48031 -0.9070 10 0.39692 T 0.17 1.2029 9.7783 0.40632 0.0:0.2857:0.4559:0.2584 . 873 Q96HY7 DHTK1_HUMAN W 873 ENSP00000263035:S873W ENSP00000263035:S873W S + 2 0 DHTKD1 12202232 0.747000 0.28283 0.109000 0.21407 0.784000 0.44337 0.476000 0.22180 -2.029000 0.00930 -0.131000 0.14894 TCG DHTKD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000046777.1 + ENST00000263035.4 Missense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ ARID3C 138715 broad.mit.edu 37 9 34622507 34622507 + Missense_Mutation SNP G G T TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr9:34622507G>T ENST00000378909.2 - 5.0 977 c.885C>A c.(883-885)aaC>aaA p.N295K NM_001017363.1 NP_001017363.1 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT-like) 295.0 Pro-rich. positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 14.0 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) CCAGACAAGGGTTTGGAATTC 0.572 G 0.0 0.0 2184.0 1.0 , , 0.0003 0.0 0.0 EXOME 0.0005 SNP 0 71.0 76.0 74.0 9 34622507.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS35006.1 9p13.2 2013-02-07 2006-11-08 ENSG00000205143 ENSG00000205143 138715.0 138715.0 """-""" 21209.0 protein-coding gene gene with protein product """AT rich interactive domain 3C (BRIGHT- like)""" Standard XM_071061 NM_001017363 Approved uc011lon.2 A6NKF2 OTTHUMG00000000445 ENST00000378909.2:c.885C>A 9.__UNKNOWN__:g.34622507G>T ENSP00000368189:p.Asn295Lys __UNKNOWN__ CCDS35006.1 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 G 0.213 -1.034799 0.02029 . . ENSG00000205143 ENST00000378909 T 0.42513 0.97 4.16 4.16 0.48862 . 0.764862 0.11604 N 0.547482 T 0.21145 0.0509 N 0.08118 0 0.20074 N 0.999932 B 0.11235 0.004 B 0.04013 0.001 T 0.04961 -1.0915 10 0.06099 T 0.92 -1.4087 12.2586 0.54636 0.0:0.0:1.0:0.0 . 295 A6NKF2 ARI3C_HUMAN K 295 ENSP00000368189:N295K ENSP00000368189:N295K N - 3 2 ARID3C 34612507 0.993000 0.37304 0.965000 0.40720 0.156000 0.22039 1.745000 0.38278 2.603000 0.88011 0.448000 0.29417 AAC ARID3C-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000348265.1 - ENST00000378909.2 Missense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ KRTAP6-2 337967 broad.mit.edu 37 21 31971176 31971176 + Silent SNP G G A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr21:31971176G>A ENST00000334897.3 - 1.0 43 c.18C>T c.(16-18)taC>taT p.Y6Y NM_181604.1 NP_853635.1 Q3LI66 KRA62_HUMAN keratin associated protein 6-2 6.0 intermediate filament (GO:0005882) endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11.0 AGTAGTTTCCGTAGTAGCTGC 0.522 0 201.0 166.0 178.0 21 31971176.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AP001708 CCDS13600.1 21q22.1 2011-02-10 ENSG00000186930 ENSG00000186930 337967.0 337967.0 """Keratin associated proteins""" 18932.0 protein-coding gene gene with protein product 12359730 Standard NM_181604 Approved KAP6.2 uc011adc.2 Q3LI66 OTTHUMG00000057794 ENST00000334897.3:c.18C>T 21.__UNKNOWN__:g.31971176G>A __UNKNOWN__ CCDS13600.1 KRTAP6-2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000128246.3 - ENST00000334897.3 Silent SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ PRG2 5553 broad.mit.edu 37 11 57154992 57154992 + Nonsense_Mutation SNP G G A rs143145891 TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr11:57154992G>A ENST00000311862.5 - 6.0 698 c.625C>T c.(625-627)Cga>Tga p.R209* PRG2_ENST00000533605.1_Nonsense_Mutation_p.R198*|PRG2_ENST00000525955.1_Nonsense_Mutation_p.R209* NM_001243245.1|NM_002728.4 NP_001230174.1|NP_002719.3 P13727 PRG2_HUMAN proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) 209.0 C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}. defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753) cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) carbohydrate binding (GO:0030246)|heparin binding (GO:0008201) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4) 10.0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Sargramostim(DB00020) CAGTGGGCTCGACGCCAGTGG 0.592 0 G stop/ARG 1,4401 2.1+/-5.4 0,1,2200 68.0 68.0 68.0 625 0.4 0.0 11 dbSNP_134 68.0 0,8592 0,0,4296 no stop-gained PRG2 NM_002728.4 0,1,6496 AA,AG,GG 0.0,0.0227,0.0077 209/223 57154992.0 1,12993 2201.0 4296.0 6497.0 SO:0001587 stop_gained BC005929 CCDS7955.1, CCDS58133.1 11q12 2005-11-25 ENSG00000186652 5553.0 5553.0 9362.0 protein-coding gene gene with protein product 605601.0 1565101 Standard NM_002728 NM_001243245 Approved MBP, BMPG P13727 ENST00000311862.5:c.625C>T 11.__UNKNOWN__:g.57154992G>A ENSP00000312134:p.Arg209* A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2 __UNKNOWN__ CCDS7955.1 . . . . . . . . . . G 12.25 1.881788 0.33255 2.27E-4 0.0 ENSG00000186652 ENST00000311862;ENST00000533605;ENST00000525955 . . . 4.81 0.386 0.16254 . 1.264410 0.06125 N 0.669503 . . . . . . 0.42832 D 0.994027 . . . . . . . . . . 0.02654 T 1 . 11.8387 0.52342 0.0:0.0:0.3946:0.6054 . . . . X 209;198;209 . ENSP00000312134:R209X R - 1 2 PRG2 56911568 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.726000 0.04936 0.065000 0.16485 -0.158000 0.13435 CGA PRG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000392468.1 - ENST00000311862.5 Nonsense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ NR1H4 9971 broad.mit.edu 37 12 100904692 100904692 + Silent SNP C C T TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr12:100904692C>T ENST00000392986.3 + 4.0 549 c.216C>T c.(214-216)ttC>ttT p.F72F NR1H4_ENST00000549996.1_Silent_p.F72F|NR1H4_ENST00000188403.7_Silent_p.F82F|NR1H4_ENST00000551379.1_Silent_p.F82F|NR1H4_ENST00000548884.1_Silent_p.F72F Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 82.0 bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367) nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654) bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44.0 Chenodeoxycholic acid(DB06777) ACCTGGGTTTCTACCCCCAGC 0.483 0 85.0 77.0 80.0 12 100904692.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U68233 CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1 12q23.1 2013-01-16 ENSG00000012504 9971.0 9971.0 """Nuclear hormone receptors""" 7967.0 protein-coding gene gene with protein product 603826.0 7774010, 9223286 Standard NM_005123 NM_001206977 Approved FXR, RIP14, HRR1, HRR-1 uc001tht.2 Q96RI1 OTTHUMG00000170359 ENST00000392986.3:c.216C>T 12.__UNKNOWN__:g.100904692C>T A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943 __UNKNOWN__ CCDS55873.1 NR1H4-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000409135.1 + ENST00000392986.3 Silent SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ UBR4 23352 broad.mit.edu 37 1 19481549 19481549 + Silent SNP C C G TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr1:19481549C>G ENST00000375254.3 - 44.0 6348 c.6321G>C c.(6319-6321)gcG>gcC p.A2107A UBR4_ENST00000375226.2_Silent_p.A2107A|UBR4_ENST00000375267.2_Silent_p.A2107A|UBR4_ENST00000375217.2_Silent_p.A2107A NM_020765.2 NP_065816.2 Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2107.0 protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032) centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) 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) 171.0 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) CACCACCGCCCGCCACCTGGC 0.483 0 143.0 128.0 133.0 1 19481549.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF348492 CCDS189.1 1p36.13 2008-06-23 2007-06-19 2007-06-19 ENSG00000127481 ENSG00000127481 23352.0 23352.0 """Ubiquitin protein ligase E3 component n-recognins""" 30313.0 protein-coding gene gene with protein product 609890.0 """zinc finger, UBR1 type 1""" ZUBR1 14702039, 10718198, 16055722 Standard NM_020765 XM_005245802 Approved KIAA1307, KIAA0462, RBAF600 uc001bbi.3 Q5T4S7 OTTHUMG00000002498 ENST00000375254.3:c.6321G>C 1.__UNKNOWN__:g.19481549C>G A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82 __UNKNOWN__ CCDS189.1 UBR4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007085.1 - ENST00000375254.3 Silent SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ DOCK9 23348 broad.mit.edu 37 13 99533880 99533880 + Splice_Site SNP C C T TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr13:99533880C>T ENST00000376460.1 - 25.0 2757 c.2677G>A c.(2677-2679)Gtc>Atc p.V893I DOCK9_ENST00000448493.2_Splice_Site_p.V905I|DOCK9_ENST00000442173.1_Splice_Site_p.V893I|DOCK9_ENST00000339416.2_Splice_Site_p.V894I NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 894.0 blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) 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) 59.0 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGAATAATGACCCTACACACC 0.388 0 78.0 72.0 74.0 13 99533880.0 1944.0 4133.0 6077.0 SO:0001630 splice_region_variant AF527605 CCDS45062.1 13q32.3 2013-01-10 ENSG00000088387 ENSG00000088387 23348.0 23348.0 """Pleckstrin homology (PH) domain containing""" 14132.0 protein-coding gene gene with protein product """zizimin1""" 607325.0 12172552, 12432077 Standard NM_015296 NM_015296 Approved KIAA1058, ZIZ1 uc001vnt.2 Q9BZ29 OTTHUMG00000017260 ENST00000376460.1:c.2676-1G>A 13.__UNKNOWN__:g.99533880C>T B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4 __UNKNOWN__ CCDS45062.1 . . . . . . . . . . C 34 5.333563 0.95758 . . ENSG00000088387 ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173 T;T;T;T 0.67171 -0.25;-0.25;-0.1;2.02 5.46 5.46 0.80206 . 0.000000 0.85682 D 0.000000 T 0.82185 0.4982 M 0.86953 2.85 0.80722 D 1 P;P;P;B;P 0.45569 0.861;0.849;0.691;0.071;0.849 P;P;P;B;B 0.54401 0.677;0.751;0.566;0.413;0.443 D 0.84635 0.0692 10 0.72032 D 0.01 . 19.6793 0.95956 0.0:1.0:0.0:0.0 . 894;893;893;893;894 A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29 .;.;.;.;DOCK9_HUMAN I 893;894;894;894;893;894;905;893 ENSP00000365643:V893I;ENSP00000341086:V894I;ENSP00000401958:V905I;ENSP00000406883:V893I ENSP00000341086:V894I V - 1 0 DOCK9 98331881 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 7.405000 0.80007 2.713000 0.92767 0.655000 0.94253 GTC DOCK9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045566.1 Missense_Mutation - ENST00000376460.1 Splice_Site SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ MITF 4286 broad.mit.edu 37 3 69987171 69987171 + Missense_Mutation SNP C C A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr3:69987171C>A ENST00000352241.4 + 3.0 716 c.553C>A c.(553-555)Ctt>Att p.L185I MITF_ENST00000394355.2_Missense_Mutation_p.L160I|MITF_ENST00000314557.6_Missense_Mutation_p.L78I|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000531774.1_Intron|MITF_ENST00000448226.2_Missense_Mutation_p.L185I|MITF_ENST00000472437.1_Missense_Mutation_p.L133I|MITF_ENST00000314589.5_Missense_Mutation_p.L169I|MITF_ENST00000328528.6_Missense_Mutation_p.L184I|MITF_ENST00000394351.3_Missense_Mutation_p.L78I NM_198159.2 NP_937802.1 O75030 MITF_HUMAN microphthalmia-associated transcription factor 185.0 bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634)|protein complex (GO:0043234) chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227) NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30.0 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) CATGGCTATGCTTACGCTTAA 0.498 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" Melanoma(29;269 969 31479 41502 42961) Dom yes 3 3p14.1 4286.0 microphthalmia-associated transcription factor yes E 0 84.0 73.0 77.0 3 69987171.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1 3p14.1-p12.3 2014-09-17 ENSG00000187098 ENSG00000187098 4286.0 4286.0 """Basic helix-loop-helix proteins""" 7105.0 protein-coding gene gene with protein product """homolog of mouse microphthalmia""" 156845.0 """Waardenburg syndrome, type 2A""" WS2A, WS2 8069297, 7874167, 7951321 Standard NM_198159 NM_198159 Approved MI, bHLHe32 uc003dnz.3 O75030 OTTHUMG00000149921 ENST00000352241.4:c.553C>A 3.__UNKNOWN__:g.69987171C>A ENSP00000295600:p.Leu185Ile B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8 __UNKNOWN__ CCDS43106.1 . . . . . . . . . . C 19.32 3.805620 0.70682 . . ENSG00000187098 ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351 T;T;T;T;T;T;T;T;T 0.34472 2.19;1.7;2.02;2.19;1.37;2.19;2.2;1.98;1.36 5.69 5.69 0.88448 . 0.288040 0.35067 N 0.003467 T 0.61211 0.2329 M 0.81682 2.555 0.54753 D 0.999988 D;D;D;D;D;D;D 0.89917 1.0;1.0;1.0;0.999;1.0;0.993;1.0 D;D;D;D;D;D;D 0.83275 0.979;0.996;0.996;0.986;0.994;0.961;0.994 T 0.63207 -0.6689 9 . . . . 13.0609 0.59005 0.0:0.9267:0.0:0.0733 . 133;78;78;160;169;184;185 E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2 .;.;.;.;.;.;. I 185;185;133;184;169;169;160;78;78 ENSP00000295600:L185I;ENSP00000391803:L185I;ENSP00000418845:L133I;ENSP00000327867:L184I;ENSP00000398639:L169I;ENSP00000324443:L169I;ENSP00000377884:L160I;ENSP00000324246:L78I;ENSP00000377880:L78I . L + 1 0 MITF 70069861 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 4.901000 0.63259 2.658000 0.90341 0.655000 0.94253 CTT MITF-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000313920.2 + ENST00000352241.4 Missense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ PRKACB 5567 broad.mit.edu 37 1 84647929 84647929 + Missense_Mutation SNP C C G TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr1:84647929C>G ENST00000370685.3 + 3.0 387 c.296C>G c.(295-297)aCa>aGa p.T99R PRKACB_ENST00000394839.2_Missense_Mutation_p.T55R|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370689.2_Missense_Mutation_p.T52R|PRKACB_ENST00000370680.1_Missense_Mutation_p.T58R|PRKACB_ENST00000370688.3_Missense_Mutation_p.T52R|PRKACB_ENST00000370682.3_Missense_Mutation_p.T56R|PRKACB_ENST00000394838.2_Missense_Mutation_p.T59R NM_001242862.1|NM_182948.2 NP_001229791.1|NP_891993.1 P22694 KAPCB_HUMAN protein kinase, cAMP-dependent, catalytic, beta 52.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833) cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625) breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1) 16.0 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) ACCCTTGGAACAGGTTCATTT 0.323 0 100.0 100.0 100.0 1 84647929.0 2203.0 4300.0 6503.0 SO:0001583 missense BC035058 CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1 1p36.1 2012-10-02 ENSG00000142875 ENSG00000142875 5567.0 5567.0 2.7.11.1 9381.0 protein-coding gene gene with protein product 176892.0 Standard NM_182948 XM_005271016 Approved PKACb uc001djl.3 P22694 OTTHUMG00000009975 ENST00000370685.3:c.296C>G 1.__UNKNOWN__:g.84647929C>G ENSP00000359719:p.Thr99Arg B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09 __UNKNOWN__ CCDS693.1 . . . . . . . . . . C 28.0 4.881002 0.91740 . . ENSG00000142875 ENST00000370689;ENST00000370688;ENST00000370685;ENST00000446538;ENST00000370684;ENST00000436133;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000432111;ENST00000450730;ENST00000370680;ENST00000413538;ENST00000417530;ENST00000394839;ENST00000370681 T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.63913 -0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;3.26 5.51 5.51 0.81932 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.57125 0.2032 N 0.05306 -0.075 0.80722 D 1 D;B;B;B;B;B;B;P;B;D;B 0.65815 0.995;0.056;0.069;0.022;0.019;0.056;0.008;0.535;0.1;0.995;0.003 D;B;B;B;B;B;B;B;B;D;B 0.83275 0.996;0.048;0.078;0.065;0.024;0.047;0.047;0.069;0.177;0.996;0.026 T 0.71108 -0.4688 10 0.87932 D 0 -14.6694 19.4363 0.94796 0.0:1.0:0.0:0.0 . 52;40;59;58;55;58;56;99;99;52;52 B2RB89;P22694-3;B4DKB0;B1APG3;B1APG4;P22694-6;P22694-7;P22694-2;B4E2L0;P22694;P22694-8 .;.;.;.;.;.;.;.;.;KAPCB_HUMAN;. R 52;52;99;59;40;56;59;56;58;48;55;58;47;39;55;14 ENSP00000359723:T52R;ENSP00000359722:T52R;ENSP00000359719:T99R;ENSP00000401252:T59R;ENSP00000359718:T40R;ENSP00000390906:T56R;ENSP00000378314:T59R;ENSP00000359716:T56R;ENSP00000392275:T48R;ENSP00000393654:T55R;ENSP00000359714:T58R;ENSP00000397175:T47R;ENSP00000399326:T39R;ENSP00000378315:T55R ENSP00000359713:T58R T + 2 0 PRKACB 84420517 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.818000 0.86416 2.606000 0.88127 0.650000 0.86243 ACA PRKACB-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000027644.1 + ENST00000370685.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ MATN4 8785 broad.mit.edu 37 20 43933259 43933259 + Silent SNP G G A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr20:43933259G>A ENST00000372756.1 - 2.0 260 c.252C>T c.(250-252)agC>agT p.S84S MATN4_ENST00000537548.1_Silent_p.S84S|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Silent_p.S84S|MATN4_ENST00000372754.1_Silent_p.S84S|MATN4_ENST00000360607.6_Silent_p.S84S|MATN4_ENST00000353917.5_Silent_p.S84S O95460 MATN4_HUMAN matrilin 4 84.0 VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}. extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678) extracellular region (GO:0005576) 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) 27.0 Myeloproliferative disorder(115;0.0122) GAGGGAAGACGCTCTGCACTT 0.652 0 38.0 35.0 36.0 20 43933259.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AJ007581 CCDS13348.1, CCDS46607.1 20q13.1-q13.2 2008-07-07 ENSG00000124159 ENSG00000124159 8785.0 8785.0 6910.0 protein-coding gene gene with protein product 603897.0 9827539, 9027493 Standard NM_003833 Approved uc002xnn.2 O95460 OTTHUMG00000033043 ENST00000372756.1:c.252C>T 20.__UNKNOWN__:g.43933259G>A A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9 __UNKNOWN__ CCDS13348.1 MATN4-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000080334.1 - ENST00000372756.1 Silent SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ RBM3 5935 broad.mit.edu 37 X 48433969 48433969 + Nonsense_Mutation SNP G G T TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chrX:48433969G>T ENST00000376759.3 + 3.0 187 c.124G>T c.(124-126)Gag>Tag p.E42* RBM3_ENST00000376755.1_Nonsense_Mutation_p.E42*|RBM3_ENST00000430348.2_5'UTR|RBM3_ENST00000466764.1_3'UTR NM_006743.4 NP_006734.1 P98179 RBM3_HUMAN RNA binding motif (RNP1, RRM) protein 3 42.0 RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}. positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412) cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723) endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4.0 CAAGGACCGGGAGACTCAGCG 0.547 0 80.0 69.0 73.0 X 48433969.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained BC006825 CCDS14301.1 Xp11.2 2014-05-19 2004-04-23 ENSG00000102317 ENSG00000102317 5935.0 5935.0 """RNA binding motif (RRM) containing""" 9900.0 protein-coding gene gene with protein product 300027.0 """RNA binding motif protein 3""" 8634703 Standard NM_006743 NM_006743 Approved IS1-RNPL uc004dkf.2 P98179 OTTHUMG00000024121 ENST00000376759.3:c.124G>T X.__UNKNOWN__:g.48433969G>T ENSP00000365950:p.Glu42* __UNKNOWN__ CCDS14301.1 . . . . . . . . . . G 35 5.487624 0.96323 . . ENSG00000102317 ENST00000376759;ENST00000376755 . . . 4.82 4.82 0.62117 . 0.000000 0.64402 U 0.000006 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.87932 D 0 -13.8348 14.6512 0.68797 0.0:0.0:1.0:0.0 . . . . X 42 . ENSP00000365946:E42X E + 1 0 RBM3 48318913 1.000000 0.71417 1.000000 0.80357 0.967000 0.64934 7.657000 0.83745 2.128000 0.65567 0.513000 0.50165 GAG RBM3-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060755.1 + ENST00000376759.3 Nonsense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ TFR2 7036 broad.mit.edu 37 7 100238453 100238453 + Missense_Mutation SNP G G A rs139318596 TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr7:100238453G>A ENST00000462107.1 - 4.0 616 c.329C>T c.(328-330)gCg>gTg p.A110V TFR2_ENST00000223051.3_Missense_Mutation_p.A110V|TFR2_ENST00000431692.1_Missense_Mutation_p.A110V Q9UP52 TFR2_HUMAN transferrin receptor 2 110.0 cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898) cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887) transferrin receptor activity (GO:0004998) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23.0 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) Gallium nitrate(DB05260) GTCTCCGCACGCCTGGCAGGA 0.592 0 G VAL/ALA 2,4404 4.2+/-10.8 0,2,2201 66.0 60.0 62.0 329 3.6 0.6 7 dbSNP_134 62.0 1,8599 1.2+/-3.3 0,1,4299 yes missense TFR2 NM_003227.3 64 0,3,6500 AA,AG,GG 0.0116,0.0454,0.0231 benign 110/802 100238453.0 3,13003 2203.0 4300.0 6503.0 SO:0001583 missense AF053356 CCDS34707.1 7q22 2003-01-27 ENSG00000106327 ENSG00000106327 7036.0 7036.0 11762.0 protein-coding gene gene with protein product 604720.0 9799793, 12130528 Standard NM_003227 NM_003227 Approved HFE3, TFRC2 uc003uvv.1 Q9UP52 OTTHUMG00000159598 ENST00000462107.1:c.329C>T 7.__UNKNOWN__:g.100238453G>A ENSP00000420525:p.Ala110Val A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67 __UNKNOWN__ CCDS34707.1 . . . . . . . . . . G 8.722 0.914603 0.17907 4.54E-4 1.16E-4 ENSG00000106327 ENST00000223051;ENST00000431692;ENST00000462107 T;T;T 0.54279 0.59;0.58;0.59 4.47 3.59 0.41128 . 0.947299 0.08818 N 0.889275 T 0.36744 0.0978 N 0.19112 0.55 0.21933 N 0.999461 B 0.14438 0.01 B 0.04013 0.001 T 0.19516 -1.0303 10 0.29301 T 0.29 -4.633 8.5519 0.33458 0.1063:0.0:0.8937:0.0 . 110 Q9UP52 TFR2_HUMAN V 110 ENSP00000223051:A110V;ENSP00000413905:A110V;ENSP00000420525:A110V ENSP00000223051:A110V A - 2 0 TFR2 100076389 0.952000 0.32445 0.583000 0.28640 0.050000 0.14768 3.279000 0.51670 1.256000 0.44068 0.313000 0.20887 GCG TFR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356392.3 - ENST00000462107.1 Missense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ EPOR 2057 broad.mit.edu 37 19 11492639 11492639 + Nonsense_Mutation SNP G G A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr19:11492639G>A ENST00000222139.6 - 3.0 498 c.394C>T c.(394-396)Cga>Tga p.R132* EPOR_ENST00000592375.2_Nonsense_Mutation_p.R132* NM_000121.3 NP_000112.1 P19235 EPOR_HUMAN erythropoietin receptor 132.0 brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802) endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5.0 Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894) CGGTGATATCGCGGAGCGCCG 0.617 OREG0025255 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 65.0 56.0 59.0 19 11492639.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained M34986 CCDS12260.1 19p13.3-p13.2 2013-02-11 ENSG00000187266 2057.0 2057.0 """Fibronectin type III domain containing""" 3416.0 protein-coding gene gene with protein product 133171.0 Standard NM_000121 Approved uc002mrj.2 P19235 ENST00000222139.6:c.394C>T 19.__UNKNOWN__:g.11492639G>A ENSP00000222139:p.Arg132* 672.0 B2RCG4|Q15443|Q2M205 __UNKNOWN__ CCDS12260.1 . . . . . . . . . . G 24.5 4.543544 0.86022 . . ENSG00000187266 ENST00000222139 . . . 3.49 1.12 0.20585 . 0.657976 0.14915 N 0.291027 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.23891 T 0.37 -35.4346 4.0769 0.09908 0.1392:0.248:0.6129:0.0 . . . . X 132 . ENSP00000222139:R132X R - 1 2 EPOR 11353639 0.043000 0.20138 0.001000 0.08648 0.174000 0.22865 1.394000 0.34509 0.832000 0.34804 0.305000 0.20034 CGA EPOR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000458791.1 - ENST00000222139.6 Nonsense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ LARP4B 23185 broad.mit.edu 37 10 890943 890943 + Missense_Mutation SNP T T G TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr10:890943T>G ENST00000316157.3 - 5.0 523 c.483A>C c.(481-483)aaA>aaC p.K161N NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 161.0 HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}. positive regulation of translation (GO:0045727) cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788) poly(A) RNA binding (GO:0044822) 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) 38.0 CCAATGTTTTTTTAAGTACTT 0.358 0 127.0 120.0 123.0 10 890943.0 2203.0 4300.0 6503.0 SO:0001583 missense D86971 CCDS31131.1 10p15.3 2011-08-24 2009-06-09 2009-06-09 ENSG00000107929 ENSG00000107929 23185.0 23185.0 """La ribonucleoprotein domain containing""" 28987.0 protein-coding gene gene with protein product """KIAA0217"", ""La ribonucleoprotein domain family, member 5""" KIAA0217, LARP5 9039502, 20573744 Standard NM_015155 NM_015155 Approved uc031ptb.1 Q92615 OTTHUMG00000017534 ENST00000316157.3:c.483A>C 10.__UNKNOWN__:g.890943T>G ENSP00000326128:p.Lys161Asn A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4 __UNKNOWN__ CCDS31131.1 . . . . . . . . . . T 20.7 4.027786 0.75390 . . ENSG00000107929 ENST00000316157 T 0.46819 0.86 5.65 -3.81 0.04294 Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3); 0.000000 0.85682 D 0.000000 T 0.65688 0.2715 M 0.80422 2.495 0.58432 D 0.999999 D 0.89917 1.0 D 0.85130 0.997 T 0.69412 -0.5152 10 0.72032 D 0.01 -18.7897 15.5529 0.76167 0.0:0.5858:0.0:0.4142 . 161 Q92615 LAR4B_HUMAN N 161 ENSP00000326128:K161N ENSP00000326128:K161N K - 3 2 LARP4B 880943 0.998000 0.40836 0.925000 0.36789 0.969000 0.65631 0.330000 0.19715 -0.921000 0.03794 -0.468000 0.05107 AAA LARP4B-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000046395.2 - ENST00000316157.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ IVL 3713 broad.mit.edu 37 1 152883994 152883994 + Missense_Mutation SNP A A G TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr1:152883994A>G ENST00000368764.3 + 2.0 1785 c.1721A>G c.(1720-1722)cAg>cGg p.Q574R IVL_ENST00000392667.2_Missense_Mutation_p.Q428R P07476 INVO_HUMAN involucrin 574.0 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224) cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198) breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29.0 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CACCAGCAGCAGAAGCAGGAG 0.567 0 68.0 69.0 69.0 1 152883994.0 2203.0 4300.0 6503.0 SO:0001583 missense BC046391 CCDS1030.1 1q21 2008-02-05 ENSG00000163207 ENSG00000163207 3713.0 3713.0 6187.0 protein-coding gene gene with protein product 147360.0 2873896 Standard NM_005547 NM_005547 Approved uc001fau.3 P07476 OTTHUMG00000012451 ENST00000368764.3:c.1721A>G 1.__UNKNOWN__:g.152883994A>G ENSP00000357753:p.Gln574Arg Q5T7P4 __UNKNOWN__ CCDS1030.1 . . . . . . . . . . A 13.68 2.309857 0.40895 . . ENSG00000163207 ENST00000368764;ENST00000392667 T;T 0.16743 2.32;2.6 3.35 2.23 0.28157 . . . . . T 0.04272 0.0118 L 0.45581 1.43 0.21064 N 0.999797 B 0.30281 0.275 B 0.26310 0.068 T 0.38023 -0.9680 9 0.36615 T 0.2 . 2.7808 0.05360 0.6554:0.0:0.1226:0.222 . 574 P07476 INVO_HUMAN R 574;428 ENSP00000357753:Q574R;ENSP00000376435:Q428R ENSP00000357753:Q574R Q + 2 0 IVL 151150618 0.014000 0.17966 0.236000 0.24074 0.235000 0.25334 2.149000 0.42244 0.672000 0.31204 0.460000 0.39030 CAG IVL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000034664.1 + ENST00000368764.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ SOX5 6660 broad.mit.edu 37 12 23818383 23818383 + Missense_Mutation SNP C C A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr12:23818383C>A ENST00000545921.1 - 7.0 1051 c.896G>T c.(895-897)gGa>gTa p.G299V SOX5_ENST00000451604.2_Missense_Mutation_p.G309V|SOX5_ENST00000541536.1_Missense_Mutation_p.G296V|SOX5_ENST00000381381.2_Missense_Mutation_p.G296V|SOX5_ENST00000546136.1_Missense_Mutation_p.G296V|SOX5_ENST00000309359.1_Missense_Mutation_p.G296V|SOX5_ENST00000537393.1_Missense_Mutation_p.G274V NM_001261415.1 NP_001248344.1 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 309.0 cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366) nuclear transcription factor complex (GO:0044798) sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) 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) 57.0 CTTACTACATCCAGCCTTATA 0.478 0 122.0 128.0 126.0 12 23818383.0 2203.0 4300.0 6503.0 SO:0001583 missense AB081589 CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1 12p12.1 2010-04-20 ENSG00000134532 ENSG00000134532 6660.0 6660.0 """SRY (sex determining region Y)-boxes""" 11201.0 protein-coding gene gene with protein product 604975.0 8812465 Standard NM_006940 NM_006940 Approved L-SOX5, MGC35153 uc001rfw.3 P35711 OTTHUMG00000169026 ENST00000545921.1:c.896G>T 12.__UNKNOWN__:g.23818383C>A ENSP00000443520:p.Gly299Val B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4 __UNKNOWN__ CCDS58217.1 . . . . . . . . . . C 26.8 4.773239 0.90108 . . ENSG00000134532 ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921 D;D;D;D;D;D;D 0.97430 -4.29;-4.29;-4.38;-4.29;-4.27;-4.38;-4.29 5.28 5.28 0.74379 . 0.393014 0.27478 N 0.019187 D 0.98005 0.9343 L 0.60455 1.87 0.80722 D 1 B;D;P 0.76494 0.192;0.999;0.56 B;D;B 0.87578 0.094;0.998;0.158 D 0.98285 1.0510 10 0.52906 T 0.07 . 19.0818 0.93186 0.0:1.0:0.0:0.0 . 274;296;309 F5H0I3;P35711-4;P35711 .;.;SOX5_HUMAN V 296;296;296;309;261;274;296;299 ENSP00000437487:G296V;ENSP00000308927:G296V;ENSP00000370788:G296V;ENSP00000398273:G309V;ENSP00000439832:G274V;ENSP00000441973:G296V;ENSP00000443520:G299V ENSP00000308927:G296V G - 2 0 SOX5 23709650 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.601000 0.82783 2.733000 0.93635 0.655000 0.94253 GGA SOX5-007 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000402010.1 - ENST00000545921.1 Missense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ NOP58 51602 broad.mit.edu 37 2 203155921 203155921 + Silent SNP A A C TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr2:203155921A>C ENST00000264279.5 + 8.0 934 c.708A>C c.(706-708)gcA>gcC p.A236A NM_015934.3 NP_057018.1 Q9Y2X3 NOP58_HUMAN NOP58 ribonucleoprotein 236.0 KAAAEISMGTEVSEEDICNILHLCTQ -> EGSCRDIHGNR GFRRRYLQYSASLHP (in Ref. 6; AAF29084). {ECO:0000305}. cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608) box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732) poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515) breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2) 16.0 AAGTGAAAGCAGCTGCAGAGA 0.433 0 110.0 113.0 112.0 2 203155921.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS2353.1 2q33.1 2012-12-10 2012-12-10 ENSG00000055044 ENSG00000055044 51602.0 51602.0 29926.0 protein-coding gene gene with protein product """NOP58 ribonucleoprotein homolog (yeast)""" 10606270, 10925205 Standard NM_015934 NM_015934 Approved NOP5, HSPC120 uc002uzb.3 Q9Y2X3 OTTHUMG00000132840 ENST00000264279.5:c.708A>C 2.__UNKNOWN__:g.203155921A>C Q53SA4|Q6PK08|Q9P036|Q9UFN3 __UNKNOWN__ CCDS2353.1 NOP58-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256313.2 + ENST00000264279.5 Silent SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ ZNF676 163223 broad.mit.edu 37 19 22364263 22364263 + Missense_Mutation SNP T T C TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr19:22364263T>C ENST00000397121.2 - 3.0 573 c.256A>G c.(256-258)Acc>Gcc p.T86A NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 86.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) 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) 67.0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TCCACATTGGTACAACTAATT 0.338 0 110.0 102.0 104.0 19 22364263.0 1954.0 4162.0 6116.0 SO:0001583 missense AK097798 CCDS42539.1 19p12 2013-01-08 ENSG00000196109 163223.0 163223.0 """Zinc fingers, C2H2-type""" 20429.0 protein-coding gene gene with protein product Standard NM_001001411 NM_001001411 Approved uc002nqs.1 Q8N7Q3 ENST00000397121.2:c.256A>G 19.__UNKNOWN__:g.22364263T>C ENSP00000380310:p.Thr86Ala A8MVX5 __UNKNOWN__ CCDS42539.1 . . . . . . . . . . . 1.934 -0.445182 0.04604 . . ENSG00000196109 ENST00000397121 T 0.06933 3.24 0.113 0.113 0.14631 . . . . . T 0.04227 0.0117 N 0.02011 -0.69 0.09310 N 1 P 0.46578 0.88 P 0.50270 0.636 T 0.39761 -0.9598 8 0.17369 T 0.5 . . . . . 86 Q8N7Q3 ZN676_HUMAN A 86 ENSP00000380310:T86A ENSP00000380310:T86A T - 1 0 ZNF676 22156103 0.001000 0.12720 0.061000 0.19648 0.246000 0.25737 0.606000 0.24194 0.158000 0.19367 0.156000 0.16432 ACC ZNF676-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464392.1 - ENST00000397121.2 Missense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ POLR2A 5430 broad.mit.edu 37 17 7417036 7417036 + Missense_Mutation SNP A A G TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr17:7417036A>G ENST00000322644.6 + 29.0 5852 c.5453A>G c.(5452-5454)tAt>tGt p.Y1818C NM_000937.4 NP_000928 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1818.0 C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN]. 7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032) DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625) 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) 50.0 Prostate(122;0.173) TCTCCAACCTATACCCCAAGC 0.582 0 313.0 295.0 301.0 17 7417036.0 2203.0 4300.0 6503.0 SO:0001583 missense 17p13.1 2013-01-21 2002-08-29 ENSG00000181222 ENSG00000181222 5430.0 5430.0 2.7.7.6 """RNA polymerase subunits""" 9187.0 protein-coding gene gene with protein product """DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1""" 180660.0 """polymerase (RNA) II (DNA directed) polypeptide A (220kD)""" POLR2 Standard NM_000937 NM_000937 Approved POLRA, RPB1 uc002ghf.4 P24928 OTTHUMG00000177594 ENST00000322644.6:c.5453A>G 17.__UNKNOWN__:g.7417036A>G ENSP00000314949:p.Tyr1818Cys A6NN93|B9EH88|Q6NX41 __UNKNOWN__ CCDS32548.1 . . . . . . . . . . A 13.84 2.358200 0.41801 . . ENSG00000181222 ENST00000535204;ENST00000545644;ENST00000322644 T 0.73258 -0.73 3.4 3.4 0.38934 . 0.000000 0.41938 U 0.000784 D 0.82783 0.5112 M 0.92122 3.275 0.80722 D 1 P 0.51240 0.943 P 0.54706 0.759 D 0.85907 0.1438 10 0.56958 D 0.05 . 11.3013 0.49306 1.0:0.0:0.0:0.0 . 1818 P24928 RPB1_HUMAN C 1774;717;1818 ENSP00000314949:Y1818C ENSP00000314949:Y1818C Y + 2 0 SLC35G6 7357760 1.000000 0.71417 0.986000 0.45419 0.973000 0.67179 6.032000 0.70918 1.567000 0.49668 0.248000 0.18094 TAT POLR2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000437967.1 + ENST00000322644.6 Missense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ OR52I2 143502 broad.mit.edu 37 11 4608623 4608623 + Missense_Mutation SNP G G C TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr11:4608623G>C ENST00000312614.4 + 1.0 603 c.581G>C c.(580-582)aGt>aCt p.S194T NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 194.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19.0 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) TGGATGGTGAGTCATCTACCT 0.507 0 131.0 128.0 129.0 11 4608623.0 2201.0 4298.0 6499.0 SO:0001583 missense BK004264 CCDS31355.1 11p15.4 2012-08-09 ENSG00000226288 ENSG00000226288 143502.0 143502.0 """GPCR / Class A : Olfactory receptors""" 15221.0 protein-coding gene gene with protein product Standard NM_001005170 NM_001005170 Approved uc010qyh.2 Q8NH67 OTTHUMG00000165721 ENST00000312614.4:c.581G>C 11.__UNKNOWN__:g.4608623G>C ENSP00000308764:p.Ser194Thr B2RNJ5|B9EKV8|Q6IFJ8 __UNKNOWN__ CCDS31355.1 . . . . . . . . . . G 3.315 -0.140030 0.06669 . . ENSG00000226288 ENST00000312614 T 0.72051 -0.62 4.17 2.0 0.26442 GPCR, rhodopsin-like superfamily (1); 0.127996 0.35772 N 0.002990 T 0.51244 0.1663 L 0.33624 1.015 0.09310 N 1 P 0.40681 0.727 B 0.35931 0.214 T 0.39035 -0.9633 10 0.20519 T 0.43 -6.8245 8.3837 0.32488 0.0:0.0:0.5425:0.4575 . 194 Q8NH67 O52I2_HUMAN T 194 ENSP00000308764:S194T ENSP00000308764:S194T S + 2 0 OR52I2 4565199 0.000000 0.05858 0.959000 0.39883 0.911000 0.54048 -0.981000 0.03766 0.942000 0.37525 0.638000 0.83543 AGT OR52I2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385946.1 + ENST00000312614.4 Missense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ EPC1 80314 broad.mit.edu 37 10 32581929 32581930 + Frame_Shift_Ins INS - - T TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr10:32581929_32581930insT ENST00000319778.6 - 4.0 954_955 c.652_653insA c.(652-654)atgfs p.M218fs EPC1_ENST00000375110.2_Frame_Shift_Ins_p.M168fs|EPC1_ENST00000263062.8_Frame_Shift_Ins_p.M218fs NM_001272004.1|NM_001272019.2 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 218.0 chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351) NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24.0 Prostate(175;0.0199) TCGAGTCTGCATTTTTTCAGTA 0.322 0 SO:0001589 frameshift_variant AF277374 CCDS7172.1, CCDS60511.1, CCDS73083.1 10p11 2005-12-12 ENSG00000120616 ENSG00000120616 80314.0 80314.0 19876.0 protein-coding gene gene with protein product 610999.0 10976108 Standard NM_025209 Approved Epl1 uc001iwg.2 Q9H2F5 OTTHUMG00000017925 ENST00000319778.6:c.653dupA 10.__UNKNOWN__:g.32581935_32581935dupT ENSP00000318559:p.Met218fs B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7 __UNKNOWN__ EPC1-002 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000047482.1 - ENST00000319778.6 Frame_Shift_Ins INS PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ PTPN5 84867 broad.mit.edu 37 11 18764923 18764924 + Frame_Shift_Ins INS - - T TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr11:18764923_18764924insT ENST00000396168.1 - 4.0 439_440 c.272_273insA c.(271-273)aacfs p.N91fs PTPN5_ENST00000396167.2_Intron|PTPN5_ENST00000396170.1_Intron|PTPN5_ENST00000477854.1_5'UTR|PTPN5_ENST00000396171.4_Frame_Shift_Ins_p.N115fs|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000358540.2_Frame_Shift_Ins_p.N115fs NM_001278238.1 NP_001265167.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 115.0 peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27.0 GGTTTGTGGCGTTCTGTGACCA 0.604 0 SO:0001589 frameshift_variant BC064807 CCDS7845.1, CCDS41626.1, CCDS60746.1 11p15.1 2011-06-09 ENSG00000110786 ENSG00000110786 84867.0 84867.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor""" 9657.0 protein-coding gene gene with protein product 176879.0 1714595 Standard NM_001039970 NM_001278236 Approved STEP, PTPSTEP uc001mpc.4 P54829 OTTHUMG00000134304 ENST00000396168.1:c.273dupA 11.__UNKNOWN__:g.18764925_18764925dupT ENSP00000379471:p.Asn91fs B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8 __UNKNOWN__ PTPN5-006 NOVEL basic|appris_principal protein_coding protein_coding OTTHUMT00000259230.1 - ENST00000396168.1 Frame_Shift_Ins INS PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ Unknown 390438 bcgsc.ca 37 14 20647773 20647773 + RNA SNP G G A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr14:20647773G>A RNA5SP381 (33459 upstream) : OR11G2 (17721 downstream) GCCATCTGCCGGCCTCTACGC 0.478 0 SO:0001628 intergenic_variant 14.__UNKNOWN__:g.20647773G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ PTPRD 5789 bcgsc.ca 37 9 8331580 8331580 + Splice_Site SNP A A T TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr9:8331580A>T ENST00000381196.4 - 41.0 6078 c.e41+1 PTPRD_ENST00000355233.5_Splice_Site|PTPRD_ENST00000486161.1_Splice_Site|PTPRD_ENST00000397617.3_Splice_Site|PTPRD_ENST00000540109.1_Splice_Site|PTPRD_ENST00000356435.5_Splice_Site|PTPRD_ENST00000397606.3_Splice_Site|PTPRD_ENST00000397611.3_Splice_Site|PTPRD_ENST00000537002.1_Splice_Site|PTPRD_ENST00000360074.4_Splice_Site|PTPRD_ENST00000358503.5_Splice_Site NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) 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) 168.0 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) ATGGAAACTTACCTGCAATGG 0.368 TSP Lung(15;0.13) 0 160.0 148.0 152.0 9 8331580.0 2203.0 4299.0 6502.0 SO:0001630 splice_region_variant X54133 CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1 9p24.1-p23 2013-02-11 ENSG00000153707 ENSG00000153707 5789.0 5789.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 9668.0 protein-coding gene gene with protein product 601598 7896816, 8355697 Standard NM_002839 Approved PTPD, HPTP uc003zkk.3 P23468 OTTHUMG00000021005 ENST00000381196.4:c.5534+1T>A 9.__UNKNOWN__:g.8331580A>T B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2 __UNKNOWN__ CCDS43786.1 . . . . . . . . . . A 8.576 0.881237 0.17467 . . ENSG00000153707 ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606 . . . 4.99 -0.359 0.12571 . . . . . . . . . . . 0.24777 N 0.992836 . . . . . . . . . . . . . . 0.7603 0.01006 0.4856:0.1685:0.1835:0.1624 . . . . . -1 . . . - . . PTPRD 8321580 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.481000 0.06552 -0.131000 0.11578 0.528000 0.53228 . PTPRD-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055395.3 Intron - ENST00000381196.4 Splice_Site SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ RAB5C 5878 bcgsc.ca 37 17 40278724 40278724 + Missense_Mutation SNP G G A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr17:40278724G>A ENST00000547517.1 - 6.0 935 CTD-2132N18.3_ENST00000592574.1_Intron|RAB5C_ENST00000346213.4_Intron|RAB5C_ENST00000393860.3_Intron NM_001252039.1 NP_001238968.1 P51148 RAB5C_HUMAN RAB5C, member RAS oncogene family endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264) endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924) large_intestine(1)|lung(4)|prostate(1)|skin(1) 7.0 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) GCAGACAGGTGATATGCCCTT 0.468 0 161.0 118.0 133.0 17 40278724.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant U18420 CCDS11419.1, CCDS58551.1 17q21.2 2013-02-15 ENSG00000108774 ENSG00000108774 5878.0 5878.0 """RAB, member RAS oncogene""" 9785.0 protein-coding gene gene with protein product """RAB, member of RAS oncogene family-like"", ""RAB5C, member of RAS oncogene family""" 604037 RABL 8646882 Standard NM_004583 NM_004583 Approved RAB5CL uc010cxx.3 P51148 OTTHUMG00000169703 ENST00000547517.1:c.634+48C>T 17.__UNKNOWN__:g.40278724G>A F8W1H5|Q6FH55|Q9P0Y5 __UNKNOWN__ CCDS58551.1 RAB5C-002 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000405510.1 - ENST00000547517.1 Intron SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ RP11-84A1.3 0 bcgsc.ca 37 4 62971394 62971394 + RNA SNP A A G TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr4:62971394A>G ENST00000506704.1 - 0.0 456 RP11-84A1.3_ENST00000504135.1_RNA|RP11-84A1.3_ENST00000509461.1_RNA AAAGAATCCCAGGATTTTCCC 0.393 0 ENST00000506704.1: 4.__UNKNOWN__:g.62971394A>G __UNKNOWN__ RP11-84A1.3-003 KNOWN basic antisense antisense OTTHUMT00000361784.1 - ENST00000506704.1 RNA SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ GRAMD1B 57476 ucsc.edu 37 11 123474134 123474134 + Missense_Mutation SNP C C A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr11:123474134C>A ENST00000529750.1 + 8.0 949 c.622C>A c.(622-624)Cct>Act p.P208T GRAMD1B_ENST00000322282.7_Splice_Site_p.P208T|GRAMD1B_ENST00000456860.2_Splice_Site_p.P215T NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 208.0 integral component of membrane (GO:0016021)|membrane (GO:0016020) p.P208S(1) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30.0 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) TCCCCTGAAGCCTCTGTGTCC 0.592 1 Substitution - Missense(1) ovary(1) 72.0 68.0 70.0 11 123474134.0 1978.0 4160.0 6138.0 SO:0001630 splice_region_variant AB033027 CCDS53720.1, CCDS66253.1, CCDS66254.1 11q24.1 2005-11-02 ENSG00000023171 57476.0 57476.0 29214.0 protein-coding gene gene with protein product 10574462 Standard XM_370660 NM_001286564 Approved KIAA1201 uc001pyx.2 Q3KR37 ENST00000529750.1:c.622-1C>A 11.__UNKNOWN__:g.123474134C>A Q6UW85|Q9ULL9 __UNKNOWN__ CCDS53720.1 . . . . . . . . . . C 14.01 2.407041 0.42715 . . ENSG00000023171 ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764 T;T;T;T;T 0.29917 1.91;1.94;1.94;1.94;1.55 5.24 5.24 0.73138 . 0.000000 0.85682 D 0.000000 T 0.32823 0.0842 L 0.43923 1.385 0.80722 D 1 B;B;B;B 0.30824 0.22;0.207;0.296;0.063 B;B;B;B 0.36186 0.109;0.219;0.027;0.074 T 0.05435 -1.0885 9 . . . . 18.8313 0.92141 0.0:1.0:0.0:0.0 . 168;215;208;215 B7Z4N9;F5H572;Q3KR37;E7EPH8 .;.;GRM1B_HUMAN;. T 215;215;208;208;168;204 ENSP00000402457:P215T;ENSP00000325628:P208T;ENSP00000436500:P208T;ENSP00000432987:P168T;ENSP00000434214:P204T . P + 1 0 GRAMD1B 122979344 1.000000 0.71417 1.000000 0.80357 0.932000 0.56968 7.631000 0.83237 2.436000 0.82500 0.491000 0.48974 CCT GRAMD1B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000387404.2 Missense_Mutation + ENST00000529750.1 Splice_Site SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ USP36 57602 ucsc.edu 37 17 76803271 76803271 + Missense_Mutation SNP C C T TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr17:76803271C>T ENST00000542802.3 - 14.0 2298 c.1855G>A c.(1855-1857)Gcc>Acc p.A619T USP36_ENST00000449938.2_Missense_Mutation_p.A319T|USP36_ENST00000312010.6_Missense_Mutation_p.A619T Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 619.0 protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843) 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) 34.0 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) TCGCTGCTGGCCGAGTGCTCT 0.662 0 28.0 29.0 29.0 17 76803271.0 2203.0 4300.0 6503.0 SO:0001583 missense AB040886 CCDS32755.1 17q25.3 2008-02-05 2005-08-08 ENSG00000055483 57602.0 57602.0 """Ubiquitin-specific peptidases""" 20062.0 protein-coding gene gene with protein product 612543 """ubiquitin specific protease 36""" 12838346 Standard NM_025090 NM_025090 Approved KIAA1453, FLJ12851 uc002jvz.1 Q9P275 ENST00000542802.3:c.1855G>A 17.__UNKNOWN__:g.76803271C>T ENSP00000441214:p.Ala619Thr Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8 __UNKNOWN__ CCDS32755.1 . . . . . . . . . . C 19.84 3.902278 0.72754 . . ENSG00000055483 ENST00000312010;ENST00000449938;ENST00000542802 T;T;T 0.20332 3.08;2.08;3.08 5.56 -7.61 0.01299 . 1.351400 0.04326 N 0.351547 T 0.12987 0.0315 L 0.35723 1.085 0.09310 N 1 B;B 0.12013 0.003;0.005 B;B 0.09377 0.002;0.004 T 0.29366 -1.0014 10 0.31617 T 0.26 -2.4982 5.2647 0.15593 0.4268:0.2507:0.0:0.3225 . 619;619 Q9P275;Q9P275-2 UBP36_HUMAN;. T 619;319;619 ENSP00000310590:A619T;ENSP00000401119:A319T;ENSP00000441214:A619T ENSP00000310590:A619T A - 1 0 USP36 74314866 0.000000 0.05858 0.000000 0.03702 0.023000 0.10783 -0.791000 0.04599 -0.836000 0.04229 0.655000 0.94253 GCC USP36-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000437472.3 - ENST00000542802.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ CD7 924 hgsc.bcm.edu 37 17 80274216 80274216 + Missense_Mutation SNP G G A rs149252844 byFrequency TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr17:80274216G>A ENST00000578509.1 - 3.0 559 c.167C>T c.(166-168)cCg>cTg p.P56L CD7_ENST00000583376.1_Missense_Mutation_p.P56L|CD7_ENST00000312648.3_Missense_Mutation_p.P156L|CD7_ENST00000584284.1_Missense_Mutation_p.P156L P09564 CD7_HUMAN CD7 molecule 156.0 Ig-like. homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) receptor activity (GO:0004872) endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 8.0 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667) GGAGCCTGTCGGTGGGGCAGG 0.657 G 9.0 0.0041 0.02 0.0028 2184.0 0.9991 , , 0.0027 0.0044 0.9118 LOWCOV,EXOME 0.0007 SNP Pancreas(45;804 1068 19702 28207 28798) 0 G LEU/PRO 98,4272 0,98,2087 18.0 23.0 21.0 467 0.1 0.0 17 dbSNP_134 21.0 4,8586 0,4,4291 no missense CD7 NM_006137.6 98 0,102,6378 AA,AG,GG 0.0466,2.2426,0.787 possibly-damaging 156/241 80274216.0 102,12858 2185.0 4295.0 6480.0 SO:0001583 missense X06180 CCDS11807.1 17q25.2-q25.3 2013-01-11 2006-03-28 ENSG00000173762 924.0 924.0 """CD molecules"", ""Immunoglobulin superfamily / V-set domain containing""" 1695.0 protein-coding gene gene with protein product """p41 protein"", ""T-cell antigen CD7"", ""T-cell leukemia antigen""" 186820 """CD7 antigen (p41)""" 1695199, 3501369 Standard NM_006137 NM_006137 Approved GP40, LEU-9, TP41, Tp40 uc002kel.1 P09564 ENST00000578509.1:c.167C>T 17.__UNKNOWN__:g.80274216G>A ENSP00000464565:p.Pro56Leu __UNKNOWN__ 9 0.004120879120879121 8 0.016260162601626018 1 0.0027624309392265192 0 0.0 0 0.0 G 5.998 0.367989 0.11352 0.022426 4.66E-4 ENSG00000173762 ENST00000312648 T 0.28069 1.63 0.122 0.122 0.14702 . . . . . T 0.14917 0.0360 N 0.08118 0 0.34128 D 0.664922 D;D 0.89917 1.0;1.0 D;D 0.71656 0.974;0.974 T 0.39231 -0.9624 9 0.87932 D 0 . 6.0148 0.19596 5.0E-4:0.0:0.9995:0.0 . 156;156 Q29VG3;P09564 .;CD7_HUMAN L 156 ENSP00000312027:P156L ENSP00000312027:P156L P - 2 0 CD7 77867505 0.049000 0.20398 0.005000 0.12908 0.005000 0.04900 1.848000 0.39309 0.193000 0.20303 0.196000 0.17591 CCG CD7-006 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000442828.1 - ENST00000578509.1 Missense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ STXBP5 134957 hgsc.bcm.edu 37 6 147680301 147680301 + Missense_Mutation SNP C C A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 C C . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr6:147680301C>A ENST00000321680.6 + 23.0 2387 c.2387C>A c.(2386-2388)gCt>gAt p.A796D STXBP5_ENST00000367480.3_Missense_Mutation_p.A743D|STXBP5_ENST00000367481.3_Missense_Mutation_p.A760D|STXBP5_ENST00000179882.6_Missense_Mutation_p.A451D NM_001127715.2 NP_001121187.1 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 796.0 exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468) acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202) syntaxin-1 binding (GO:0017075) breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42.0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) GCGATCTCCGCTCTTCATTTC 0.448 0 102.0 99.0 100.0 6 147680301.0 2203.0 4300.0 6503.0 SO:0001583 missense AK055484 CCDS5211.1, CCDS47499.1 6q24.3 2013-01-10 ENSG00000164506 ENSG00000164506 134957.0 """WD repeat domain containing""" 19665.0 protein-coding gene gene with protein product 604586 9620695, 14767561 Standard NM_139244 Approved tomosyn, LLGL3 uc010khz.2 Q5T5C0 OTTHUMG00000015766 ENST00000321680.6:c.2387C>A 6.__UNKNOWN__:g.147680301C>A ENSP00000321826:p.Ala796Asp Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9 __UNKNOWN__ CCDS47499.1 . . . . . . . . . . C 17.33 3.362265 0.61403 . . ENSG00000164506 ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291 T;T;T;T;T 0.30714 1.78;1.78;1.52;1.78;1.78 5.47 5.47 0.80525 . 0.231953 0.44902 D 0.000411 T 0.17662 0.0424 L 0.29908 0.895 0.47511 D 0.999446 B;P;P 0.37688 0.449;0.605;0.605 B;B;B 0.37091 0.241;0.175;0.099 T 0.04373 -1.0956 10 0.62326 D 0.03 . 19.3349 0.94312 0.0:1.0:0.0:0.0 . 760;796;451 Q5T5C0-2;Q5T5C0;B3KXX0 .;STXB5_HUMAN;. D 135;760;796;743;451;120 ENSP00000356451:A760D;ENSP00000321826:A796D;ENSP00000356450:A743D;ENSP00000179882:A451D;ENSP00000376112:A120D ENSP00000179882:A451D A + 2 0 STXBP5 147721994 1.000000 0.71417 1.000000 0.80357 0.800000 0.45204 5.765000 0.68834 2.570000 0.86706 0.655000 0.94253 GCT STXBP5-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000042606.1 + ENST00000321680.6 Missense_Mutation SNP PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ KMT2C 0 unc.edu 37 7 151962193 151962193 + Frame_Shift_Del DEL C C - TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS;RNA-Seq none Illumina HiSeq ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr7:151962193delC ENST00000262189.6 - 8.0 1332 c.1114delG c.(1114-1116)gatfs p.D372fs KMT2C_ENST00000355193.2_Frame_Shift_Del_p.D372fs NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 372.0 histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) ACCGCTATATCCAGGCACATT 0.453 0 505.0 449.0 468.0 7 151962193.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508.0 58508.0 """Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type""" 13726.0 protein-coding gene gene with protein product 606833 """myeloid/lymphoid or mixed-lineage leukemia 3""" MLL3 10819331 Standard XM_005250026 Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.1114delG 7.__UNKNOWN__:g.151962193delC ENSP00000262189:p.Asp372fs Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 __UNKNOWN__ CCDS5931.1 KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000318887.3 - ENST00000262189.6 Frame_Shift_Del DEL PCPG-TCGA-QT-A5XJ-Normal-SM-5EQGJ AHNAK2 113146 broad.mit.edu 37 14 105413382 105413382 + Silent SNP G G A TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr14:105413382G>A ENST00000557457.1 - 2.0 24 AHNAK2_ENST00000333244.5_Silent_p.A2802A Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33.0 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) TGCCCTTGTCGGCCAGGGACA 0.617 0 G 0,3888 0,0,1944 199.0 214.0 209.0 8406 -6.5 0.0 14 209.0 1,8267 0,1,4133 no coding-synonymous AHNAK2 NM_138420.2 0,1,6077 AA,AG,GG 0.0121,0.0,0.0082 2802/5796 105413382.0 1,12155 1944.0 4134.0 6078.0 SO:0001627 intron_variant AB095939 CCDS45177.1 14q32.33 2010-04-01 2007-03-26 2007-03-26 ENSG00000185567 ENSG00000185567 113146.0 113146.0 20125.0 protein-coding gene gene with protein product 608570.0 """chromosome 14 open reading frame 78""" C14orf78 15007166 Standard NM_138420 NM_138420 Approved uc010axc.1 Q8IVF2 ENST00000557457.1:c.220-6067C>T 14.__UNKNOWN__:g.105413382G>A Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9 __UNKNOWN__ AHNAK2-003 PUTATIVE basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000410299.1 - ENST00000557457.1 Intron SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY POTEF 728378 broad.mit.edu 37 2 130877845 130877845 + Missense_Mutation SNP C C T TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr2:130877845C>T ENST00000409914.2 - 3.0 643 c.244G>A c.(244-246)Gct>Act p.A82T POTEF_ENST00000361163.4_Missense_Mutation_p.A82T|POTEF_ENST00000357462.5_Missense_Mutation_p.A82T|POTEF_ENST00000360967.5_Missense_Mutation_p.A82T NM_001099771.2 NP_001093241.1 A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 82.0 retina homeostasis (GO:0001895) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53.0 TCTCCAGAAGCGCCCACGTTG 0.602 0 92.0 123.0 113.0 2 130877845.0 2202.0 4294.0 6496.0 SO:0001583 missense EF523384 CCDS46409.1 2q21.1 2013-01-10 2008-11-26 2008-11-26 ENSG00000196604 ENSG00000196604 728378.0 728378.0 """POTE ankyrin domain containing"", ""Ankyrin repeat domain containing""" 33905.0 protein-coding gene gene with protein product """ANKRD26-like family C, member 1B""" A26C1B 17101985 Standard NM_001099771 NM_001099771 Approved POTEACTIN, POTE2alpha uc010fmh.2 A5A3E0 OTTHUMG00000153628 ENST00000409914.2:c.244G>A 2.__UNKNOWN__:g.130877845C>T ENSP00000386786:p.Ala82Thr A6NC34 __UNKNOWN__ CCDS46409.1 . . . . . . . . . . . 0.007 -1.989305 0.00439 . . ENSG00000196604 ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163 T;T;T;T 0.75260 -0.92;-0.92;1.92;1.91 0.586 0.586 0.17434 . . . . . T 0.32041 0.0816 N 0.01505 -0.83 0.09310 N 1 P 0.52463 0.953 B 0.32149 0.141 T 0.45011 -0.9290 8 0.02654 T 1 . . . . . 82 A5A3E0 POTEF_HUMAN T 82 ENSP00000350052:A82T;ENSP00000386786:A82T;ENSP00000354232:A82T;ENSP00000355012:A82T ENSP00000350052:A82T A - 1 0 POTEF 130594315 0.000000 0.05858 0.002000 0.10522 0.090000 0.18270 -0.188000 0.09642 0.590000 0.29694 0.152000 0.16155 GCT POTEF-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000331889.2 - ENST00000409914.2 Missense_Mutation SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY SMPD4 55627 broad.mit.edu 37 2 130930857 130930857 + Silent SNP A A G rs151328892 by1000genomes TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr2:130930857A>G ENST00000409031.1 - 5.0 1605 c.457T>C c.(457-459)Ttg>Ctg p.L153L SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000351288.6_Silent_p.L153L|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000431183.2_Intron|SMPD4_ENST00000339679.7_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000426662.2_Intron NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 114.0 cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802) metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29.0 Colorectal(110;0.1) Phosphatidylserine(DB00144) CTTACAGGCAAGTAGGAGACA 0.488 0 120.0 118.0 119.0 2 130930857.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF052134 CCDS2156.2, CCDS42751.1, CCDS54398.1 2q21.1 2009-11-06 ENSG00000136699 ENSG00000136699 55627.0 55627.0 32949.0 protein-coding gene gene with protein product 610457.0 16517606 Standard NM_017751 NM_001171083 Approved FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13 uc002tqr.2 Q9NXE4 OTTHUMG00000131624 ENST00000409031.1:c.457T>C 2.__UNKNOWN__:g.130930857A>G B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9 __UNKNOWN__ CCDS42751.1 SMPD4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254516.3 - ENST00000409031.1 Silent SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY IMMP1L 196294 broad.mit.edu 37 11 31477878 31477878 + Silent SNP T T G TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr11:31477878T>G ENST00000278200.1 - 5.0 445 c.250A>C c.(250-252)Aga>Cga p.R84R IMMP1L_ENST00000534812.1_Intron|IMMP1L_ENST00000528161.1_5'UTR|IMMP1L_ENST00000532287.1_Silent_p.R84R|IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000526776.1_Intron NM_144981.1 NP_659418.1 Q96LU5 IMP1L_HUMAN IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) 84.0 protein processing involved in protein targeting to mitochondrion (GO:0006627) mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) serine-type peptidase activity (GO:0008236) breast(1)|cervix(1)|large_intestine(1)|lung(4) 7.0 Lung SC(675;0.225) CCAATTACTCTTTTACAAATA 0.318 0 64.0 59.0 61.0 11 31477878.0 2202.0 4296.0 6498.0 SO:0001819 synonymous_variant CCDS7874.1 11p13 2014-07-30 ENSG00000148950 ENSG00000148950 196294.0 196294.0 26317.0 protein-coding gene gene with protein product 612323.0 Standard NM_144981 NM_144981 Approved FLJ25059 uc001msy.1 Q96LU5 OTTHUMG00000166226 ENST00000278200.1:c.250A>C 11.__UNKNOWN__:g.31477878T>G D3DQZ7|Q96SH9 __UNKNOWN__ CCDS7874.1 IMMP1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000388496.1 - ENST00000278200.1 Silent SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY WFDC9 259240 broad.mit.edu 37 20 44236772 44236772 + Missense_Mutation SNP G G A TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr20:44236772G>A ENST00000326000.1 - 5.0 464 c.247C>T c.(247-249)Ctt>Ttt p.L83F NM_147198.3 NP_671731.1 Q8NEX5 WFDC9_HUMAN WAP four-disulfide core domain 9 83.0 extracellular region (GO:0005576) breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1) 6.0 Myeloproliferative disorder(115;0.0122) ATTGATTTAAGGGGCTCTCTA 0.423 0 178.0 180.0 180.0 20 44236772.0 2203.0 4300.0 6503.0 SO:0001583 missense AL031671 CCDS13362.1 20q13.12 2013-01-21 ENSG00000180205 ENSG00000180205 259240.0 259240.0 """WAP four-disulfide core domain containing""" 20380.0 protein-coding gene gene with protein product 12206714 Standard NM_147198 Approved WAP9, dJ688G8.2 uc002xoy.3 Q8NEX5 OTTHUMG00000046332 ENST00000326000.1:c.247C>T 20.__UNKNOWN__:g.44236772G>A ENSP00000320532:p.Leu83Phe Q3MIX6|Q5TGZ8 __UNKNOWN__ CCDS13362.1 . . . . . . . . . . G 0.012 -1.670890 0.00758 . . ENSG00000180205 ENST00000326000 T 0.33865 1.39 3.62 1.08 0.20341 . 0.599477 0.13978 N 0.349644 T 0.13798 0.0334 . . . 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.27872 -1.0061 9 0.09084 T 0.74 -2.5934 2.9681 0.05913 0.6667:0.0:0.1208:0.2125 . 83 Q8NEX5 WFDC9_HUMAN F 83 ENSP00000320532:L83F ENSP00000320532:L83F L - 1 0 WFDC9 43670186 0.001000 0.12720 0.002000 0.10522 0.001000 0.01503 0.388000 0.20735 0.238000 0.21222 -0.441000 0.05720 CTT WFDC9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000106945.1 - ENST00000326000.1 Missense_Mutation SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY CDH6 1004 broad.mit.edu 37 5 31299603 31299603 + Nonsense_Mutation SNP C C T TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr5:31299603C>T ENST00000265071.2 + 5.0 941 c.676C>T c.(676-678)Cga>Tga p.R226* CDH6_ENST00000514738.1_Nonsense_Mutation_p.R171* NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 226.0 Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}. adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77.0 CAACATGGATCGAGAAAACAG 0.438 0 145.0 137.0 140.0 5 31299603.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained D31784 CCDS3894.1 5p13.3 2010-01-26 ENSG00000113361 ENSG00000113361 1004.0 1004.0 """Cadherins / Major cadherins""" 1765.0 protein-coding gene gene with protein product """K-Cadherin""" 603007.0 7743525, 10191097 Standard NM_004932 NM_004932 Approved uc003jhe.2 P55285 OTTHUMG00000090673 ENST00000265071.2:c.676C>T 5.__UNKNOWN__:g.31299603C>T ENSP00000265071:p.Arg226* A8K5H5|Q9BWS0 __UNKNOWN__ CCDS3894.1 . . . . . . . . . . C 40 8.217388 0.98712 . . ENSG00000113361 ENST00000514738;ENST00000265071 . . . 6.07 5.18 0.71444 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 14.1435 0.65334 0.3643:0.6357:0.0:0.0 . . . . X 171;226 . ENSP00000265071:R226X R + 1 2 CDH6 31335360 0.941000 0.31946 1.000000 0.80357 0.993000 0.82548 0.091000 0.15046 2.885000 0.99019 0.655000 0.94253 CGA CDH6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207355.2 + ENST00000265071.2 Nonsense_Mutation SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY CD97 976 broad.mit.edu 37 19 14507920 14507920 + Silent SNP G G A rs148941728 TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr19:14507920G>A ENST00000242786.5 + 6.0 590 c.510G>A c.(508-510)ccG>ccA p.P170P CD97_ENST00000357355.3_Intron|CD97_ENST00000587728.1_Intron|CD97_ENST00000358600.3_Intron NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 170.0 EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218) extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888) breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30.0 GACAAAACCCGTGCCACAGCT 0.627 g 26.0 0.01 0.01 2184.0 0.01 0.992 , , 0.009 0.02 0.0154 0.782 LOWCOV 0.0006 SNP 0 G ,, 1,4405 2.1+/-5.4 0,1,2202 108.0 97.0 101.0 ,,510 -7.1 0.0 19 dbSNP_134 101.0 0,8600 0,0,4300 no intron,intron,coding-synonymous CD97 NM_001025160.2,NM_001784.4,NM_078481.3 ,, 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 ,, ,,170/836 14507920.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS32929.1, CCDS32930.1, CCDS32931.1 19p13 2014-08-08 2006-03-28 ENSG00000123146 976.0 976.0 """CD molecules"", ""-"", ""GPCR / Class B : Orphans""" 1711.0 protein-coding gene gene with protein product """leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor""" 601211.0 """CD97 antigen""" 7636245, 8786105 Standard NM_078481 NM_078481 Approved TM7LN1 uc002myl.3 P48960 ENST00000242786.5:c.510G>A 19.__UNKNOWN__:g.14507920G>A A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7 __UNKNOWN__ CCDS32929.1 CD97-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459821.2 + ENST00000242786.5 Silent SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY ROS1 6098 broad.mit.edu 37 6 117662679 117662679 + Missense_Mutation SNP C C T TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr6:117662679C>T ENST00000368508.3 - 29.0 4984 c.4786G>A c.(4786-4788)Gca>Aca p.A1596T ROS1_ENST00000368507.3_Missense_Mutation_p.A1590T|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS1_HUMAN ROS proto-oncogene 1 , receptor tyrosine kinase 1596.0 Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}. cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) 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) 162.0 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) TGTGAGATTGCCAACTGATAA 0.438 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" Dom yes 6 6q22 6098.0 v-ros UR2 sarcoma virus oncogene homolog 1 (avian) """O, E""" 0 192.0 171.0 178.0 6 117662679.0 2203.0 4300.0 6503.0 SO:0001583 missense M13599 CCDS5116.1 6q21-q22 2014-06-26 2014-06-26 ENSG00000047936 ENSG00000047936 6098.0 6098.0 """Fibronectin type III domain containing""" 10261.0 protein-coding gene gene with protein product 165020.0 """v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase""" 1611909 Standard NM_002944 Approved MCF3, ROS, c-ros-1 uc003pxp.1 P08922 OTTHUMG00000016188 ENST00000368508.3:c.4786G>A 6.__UNKNOWN__:g.117662679C>T ENSP00000357494:p.Ala1596Thr Q15368|Q5TDB5 __UNKNOWN__ CCDS5116.1 . . . . . . . . . . C 2.801 -0.249071 0.05867 . . ENSG00000047936 ENST00000368508;ENST00000368507 T;T 0.52526 0.66;0.66 5.11 4.23 0.50019 . 0.432597 0.21624 N 0.071589 T 0.14743 0.0356 N 0.24115 0.695 0.52501 D 0.999958 P 0.34522 0.455 B 0.27608 0.081 T 0.05022 -1.0911 10 0.22109 T 0.4 . 9.8939 0.41306 0.0:0.9019:0.0:0.0981 . 1596 P08922 ROS1_HUMAN T 1596;1590 ENSP00000357494:A1596T;ENSP00000357493:A1590T ENSP00000357493:A1590T A - 1 0 ROS1 117769372 0.003000 0.15002 0.769000 0.31535 0.697000 0.40408 0.040000 0.13905 2.390000 0.81377 0.655000 0.94253 GCA ROS1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000043464.1 - ENST00000368508.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY GPCPD1 56261 broad.mit.edu 37 20 5559094 5559094 + Missense_Mutation SNP G G T TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr20:5559094G>T ENST00000379019.4 - 8.0 849 c.637C>A c.(637-639)Cgt>Agt p.R213S GPCPD1_ENST00000481038.1_5'UTR NM_019593.3 NP_062539.1 Q9NPB8 GPCP1_HUMAN glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) 213.0 glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737) glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1) 16.0 TCTGTCCAACGATCAGGCTGC 0.443 0 123.0 108.0 114.0 20 5559094.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS13090.1 20p12.3 2011-01-25 ENSG00000125772 ENSG00000125772 56261.0 56261.0 26957.0 protein-coding gene gene with protein product 614124.0 10718198, 20576599 Standard NM_019593 NM_019593 Approved KIAA1434, GDE5, GDPD6 uc002wme.4 Q9NPB8 OTTHUMG00000031806 ENST00000379019.4:c.637C>A 20.__UNKNOWN__:g.5559094G>T ENSP00000368305:p.Arg213Ser D3DW06|Q9BQL8|Q9NUX0 __UNKNOWN__ CCDS13090.1 . . . . . . . . . . G 15.42 2.827235 0.50739 . . ENSG00000125772 ENST00000379019 T 0.41400 1.0 5.35 5.35 0.76521 . 0.064339 0.64402 D 0.000003 T 0.43166 0.1235 L 0.29908 0.895 0.58432 D 0.999999 D 0.58268 0.982 P 0.49752 0.621 T 0.14896 -1.0456 10 0.32370 T 0.25 -5.4964 19.4355 0.94792 0.0:0.0:1.0:0.0 . 213 Q9NPB8 GPCP1_HUMAN S 213 ENSP00000368305:R213S ENSP00000368305:R213S R - 1 0 GPCPD1 5507094 1.000000 0.71417 0.830000 0.32933 0.914000 0.54420 6.636000 0.74299 2.668000 0.90789 0.655000 0.94253 CGT GPCPD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077869.1 - ENST00000379019.4 Missense_Mutation SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY RYR3 6263 broad.mit.edu 37 15 34115225 34115225 + Missense_Mutation SNP A A G TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr15:34115225A>G ENST00000389232.4 + 81.0 11094 c.11024A>G c.(11023-11025)aAg>aGg p.K3675R RYR3_ENST00000415757.3_Missense_Mutation_p.K3670R NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3675.0 calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017) calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219) 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) 311.0 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) AAGGAGAAAAAGGATGCTGGA 0.418 0 114.0 109.0 110.0 15 34115225.0 1842.0 4107.0 5949.0 SO:0001583 missense CCDS45210.1, CCDS58351.1 15q14-q15 2013-01-10 ENSG00000198838 6263.0 6263.0 """Ion channels / Ryanodine receptors"", ""EF-hand domain containing""" 10485.0 protein-coding gene gene with protein product 180903.0 8276408 Standard NM_001036 Approved uc001zhi.3 Q15413 ENST00000389232.4:c.11024A>G 15.__UNKNOWN__:g.34115225A>G ENSP00000373884:p.Lys3675Arg O15175|Q15412 __UNKNOWN__ CCDS45210.1 . . . . . . . . . . A 14.19 2.461181 0.43736 . . ENSG00000198838 ENST00000389232;ENST00000415757;ENST00000361728 D 0.91351 -2.83 5.35 5.35 0.76521 . 0.056600 0.64402 D 0.000002 T 0.80314 0.4600 N 0.12182 0.205 0.30598 N 0.760798 B;B 0.11235 0.004;0.004 B;B 0.08055 0.003;0.003 T 0.73142 -0.4076 10 0.26408 T 0.33 . 9.91 0.41399 0.9246:0.0:0.0754:0.0 . 3670;3675 Q15413-2;Q15413 .;RYR3_HUMAN R 3675;3674;3670 ENSP00000373884:K3675R ENSP00000354735:K3670R K + 2 0 RYR3 31902517 1.000000 0.71417 1.000000 0.80357 0.975000 0.68041 5.735000 0.68587 2.243000 0.73865 0.533000 0.62120 AAG RYR3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000417514.1 + ENST00000389232.4 Missense_Mutation SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY CPS1 1373 broad.mit.edu 37 2 211473267 211473267 + Missense_Mutation SNP T T C TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr2:211473267T>C ENST00000233072.5 + 19.0 2571 c.2375T>C c.(2374-2376)aTg>aCg p.M792T CPS1_ENST00000430249.2_Missense_Mutation_p.M798T|CPS1_ENST00000451903.2_Missense_Mutation_p.M341T NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 792.0 M -> I (in CPS1D). {ECO:0000269|PubMed:21120950}. anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543) 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) 142.0 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) Carglumic Acid(DB06775) GGTAGCTCTATGAAAAGTGTA 0.418 0 125.0 122.0 123.0 2 211473267.0 2203.0 4300.0 6503.0 SO:0001583 missense AF154830 CCDS2393.1, CCDS46505.1, CCDS46506.1 2p 2014-09-17 2010-05-11 ENSG00000021826 ENSG00000021826 1373.0 1373.0 6.3.4.16 2323.0 protein-coding gene gene with protein product 608307.0 """carbamoyl-phosphate synthetase 1, mitochondrial""" Standard NM_001122633 Approved uc002vee.4 P31327 OTTHUMG00000132994 ENST00000233072.5:c.2375T>C 2.__UNKNOWN__:g.211473267T>C ENSP00000233072:p.Met792Thr B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5 __UNKNOWN__ CCDS2393.1 . . . . . . . . . . T 21.6 4.173757 0.78452 . . ENSG00000021826 ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903 D;D;D 0.97976 -4.64;-4.64;-4.64 5.86 5.86 0.93980 ATP-grasp fold, subdomain 2 (1); 0.000000 0.85682 D 0.000000 D 0.98406 0.9470 H 0.94847 3.59 0.80722 D 1 P;P 0.43938 0.822;0.822 P;P 0.45639 0.488;0.488 D 0.99616 1.0982 10 0.87932 D 0 -9.8479 16.5602 0.84551 0.0:0.0:0.0:1.0 . 802;792 Q59HF8;P31327 .;CPSM_HUMAN T 798;800;792;341 ENSP00000402608:M798T;ENSP00000233072:M792T;ENSP00000406136:M341T ENSP00000233072:M792T M + 2 0 CPS1 211181512 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.655000 0.83696 2.367000 0.80283 0.528000 0.53228 ATG CPS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256569.5 + ENST00000233072.5 Missense_Mutation SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY FNDC3A 22862 broad.mit.edu 37 13 49765404 49765404 + Missense_Mutation SNP A A G TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr13:49765404A>G ENST00000492622.2 + 19.0 2415 c.2110A>G c.(2110-2112)Ata>Gta p.I704V FNDC3A_ENST00000541916.1_Missense_Mutation_p.I704V|FNDC3A_ENST00000398316.3_Missense_Mutation_p.I648V NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 704.0 Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}. fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286) acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506) poly(A) RNA binding (GO:0044822) endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41.0 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) AATGTCTCCTATAGAAAAAGA 0.413 0 A VAL/ILE,VAL/ILE 0,4406 0,0,2203 101.0 101.0 101.0 1942,2110 -2.8 1.0 13 101.0 1,8599 1.2+/-3.3 0,1,4299 no missense,missense FNDC3A NM_014923.3,NM_001079673.1 29,29 0,1,6502 GG,GA,AA 0.0116,0.0,0.0077 benign,benign 648/1143,704/1199 49765404.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AB023187 CCDS9413.2, CCDS41886.1 13q14.12 2013-02-11 2005-01-20 2005-01-22 ENSG00000102531 ENSG00000102531 22862.0 22862.0 """Fibronectin type III domain containing""" 20296.0 protein-coding gene gene with protein product 615794.0 """fibronectin type III domain containing 3""" FNDC3 Standard NM_014923 NM_001079673 Approved bA203I16.5, KIAA0970 uc001vcm.3 Q9Y2H6 OTTHUMG00000016911 ENST00000492622.2:c.2110A>G 13.__UNKNOWN__:g.49765404A>G ENSP00000417257:p.Ile704Val B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1 __UNKNOWN__ CCDS41886.1 . . . . . . . . . . A 8.158 0.788829 0.16258 0.0 1.16E-4 ENSG00000102531 ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316 T;T;T 0.55234 0.53;0.53;0.53 5.2 -2.83 0.05769 Fibronectin, type III (4);Immunoglobulin-like fold (1); 1.173980 0.06240 N 0.690202 T 0.20373 0.0490 N 0.02315 -0.6 0.21579 N 0.99963 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.09037 -1.0693 10 0.29301 T 0.29 -4.0E-4 0.4799 0.00546 0.3414:0.1995:0.2568:0.2023 . 648;704 Q9Y2H6-2;Q9Y2H6 .;FND3A_HUMAN V 704;640;704;648 ENSP00000417257:I704V;ENSP00000441831:I704V;ENSP00000381362:I648V ENSP00000338579:I640V I + 1 0 FNDC3A 48663405 0.000000 0.05858 0.988000 0.46212 0.872000 0.50106 -0.689000 0.05144 -0.311000 0.08754 -0.366000 0.07423 ATA FNDC3A-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000354845.2 + ENST00000492622.2 Missense_Mutation SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY UVSSA 57654 broad.mit.edu 37 4 1343499 1343499 + Missense_Mutation SNP G G A TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr4:1343499G>A ENST00000389851.4 + 3.0 733 c.286G>A c.(286-288)Gca>Aca p.A96T UVSSA_ENST00000511216.1_Missense_Mutation_p.A96T|UVSSA_ENST00000507531.1_Missense_Mutation_p.A96T NM_020894.2 NP_065945.2 Q2YD98 UVSSA_HUMAN UV-stimulated scaffold protein A 96.0 VHS-like. protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283) chromosome (GO:0005694) RNA polymerase II core binding (GO:0000993) CACAGACCCCGCACAGCCTCT 0.627 0 40.0 41.0 40.0 4 1343499.0 2203.0 4300.0 6503.0 SO:0001583 missense BC021930 CCDS33938.1 4p16.3 2012-04-27 2012-04-27 2012-04-27 ENSG00000163945 57654.0 57654.0 29304.0 protein-coding gene gene with protein product 614632.0 """KIAA1530""" KIAA1530 10819331, 22466610, 22466611, 22466612 Standard NM_020894 NM_020894 Approved uc003gde.4 Q2YD98 ENST00000389851.4:c.286G>A 4.__UNKNOWN__:g.1343499G>A ENSP00000374501:p.Ala96Thr A8K9E6|B2RU11|Q8WTX4|Q9P1Z8 __UNKNOWN__ CCDS33938.1 . . . . . . . . . . G 12.66 2.005437 0.35415 . . ENSG00000163945 ENST00000511216;ENST00000389851;ENST00000507531 T;T;T 0.22134 1.97;1.97;1.97 4.98 3.19 0.36642 . 0.276343 0.39687 N 0.001288 T 0.07234 0.0183 N 0.03608 -0.345 0.80722 D 1 P 0.41643 0.758 B 0.29077 0.098 T 0.29027 -1.0025 10 0.62326 D 0.03 . 9.2746 0.37692 0.076:0.0:0.7789:0.1451 . 96 Q2YD98 K1530_HUMAN T 96 ENSP00000425130:A96T;ENSP00000374501:A96T;ENSP00000421741:A96T ENSP00000374501:A96T A + 1 0 KIAA1530 1333499 0.990000 0.36364 0.015000 0.15790 0.076000 0.17211 3.472000 0.53114 0.464000 0.27142 0.655000 0.94253 GCA UVSSA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359480.1 + ENST00000389851.4 Missense_Mutation SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY PCDHB5 0 broad.mit.edu 37 5 140517245 140517245 + Silent SNP C C T TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr5:140517245C>T ENST00000231134.5 + 1.0 2446 c.2229C>T c.(2227-2229)acC>acT p.T743T NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 743.0 calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) 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) 81.0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCACCGGGACCCTATCCCAGA 0.642 0 96.0 115.0 109.0 5 140517245.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF152498 CCDS4247.1 5q31 2010-01-26 ENSG00000113209 ENSG00000113209 26167.0 26167.0 """Cadherins / Protocadherins : Clustered""" 8690.0 other protocadherin 606331.0 10380929 Standard NM_015669 NM_015669 Approved DKFZp586B0217, PCDH-BETA5 uc003liq.3 Q9Y5E4 OTTHUMG00000129616 ENST00000231134.5:c.2229C>T 5.__UNKNOWN__:g.140517245C>T Q549F4|Q9UFU9 __UNKNOWN__ CCDS4247.1 PCDHB5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251811.1 + ENST00000231134.5 Silent SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY HRG 3273 broad.mit.edu 37 3 186395480 186395480 + Silent SNP T T C TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr3:186395480T>C ENST00000232003.4 + 7.0 1466 c.1386T>C c.(1384-1386)ccT>ccC p.P462P NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 462.0 His/Pro-rich (HRR). angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070) blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093) cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37.0 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) ACCGACTCCCTCCTCTAAGAA 0.552 0 100.0 98.0 99.0 3 186395480.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS3280.1 3q27 2008-07-18 ENSG00000113905 ENSG00000113905 3273.0 3273.0 5181.0 protein-coding gene gene with protein product """histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG""" 142640.0 1678514 Standard NM_000412 NM_000412 Approved HRGP, HPRG uc003fqq.3 P04196 OTTHUMG00000156578 ENST00000232003.4:c.1386T>C 3.__UNKNOWN__:g.186395480T>C B9EK35|D3DNU7 __UNKNOWN__ CCDS3280.1 HRG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000344655.1 + ENST00000232003.4 Silent SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY CRB2 286204 broad.mit.edu 37 9 126133381 126133381 + Missense_Mutation SNP G G A TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr9:126133381G>A ENST00000373631.3 + 8.0 1961 c.1960G>A c.(1960-1962)Gcc>Acc p.A654T CRB2_ENST00000359999.3_Missense_Mutation_p.A654T|CRB2_ENST00000373629.2_Missense_Mutation_p.A322T NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs family member 2 654.0 Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}. cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234) calcium ion binding (GO:0005509)|enzyme binding (GO:0019899) NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23.0 CTTGGGAGGCGCCCCAAGCTC 0.617 0 G THR/ALA 1,4405 0,1,2202 81.0 91.0 87.0 1960 -5.9 0.0 9 87.0 0,8600 0,0,4300 no missense CRB2 NM_173689.5 58 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 benign 654/1286 126133381.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AK095783 CCDS6852.2 9q33.2 2014-02-06 2014-02-06 ENSG00000148204 ENSG00000148204 286204.0 286204.0 18688.0 protein-coding gene gene with protein product 609720.0 """crumbs homolog 2 (Drosophila)""" 14767562 Standard NM_173689 XM_005251934 Approved FLJ38464, FLJ16786 uc004bnx.1 Q5IJ48 OTTHUMG00000020638 ENST00000373631.3:c.1960G>A 9.__UNKNOWN__:g.126133381G>A ENSP00000362734:p.Ala654Thr A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6 __UNKNOWN__ CCDS6852.2 . . . . . . . . . . . 0.008 -1.889265 0.00527 2.27E-4 0.0 ENSG00000148204 ENST00000359999;ENST00000373631;ENST00000373629 T;T;T 0.79033 -1.23;-1.23;-1.23 5.16 -5.86 0.02304 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1); 1.130590 0.06759 N 0.781497 T 0.45054 0.1323 N 0.02865 -0.47 0.09310 N 1 B;B 0.11235 0.001;0.004 B;B 0.06405 0.001;0.002 T 0.51671 -0.8676 10 0.02654 T 1 . 8.2962 0.31986 0.3099:0.0:0.5411:0.149 . 654;654 Q5IJ48;Q5IJ48-2 CRUM2_HUMAN;. T 654;654;322 ENSP00000353092:A654T;ENSP00000362734:A654T;ENSP00000362732:A322T ENSP00000353092:A654T A + 1 0 CRB2 125173202 0.000000 0.05858 0.038000 0.18304 0.046000 0.14306 -0.010000 0.12743 -0.361000 0.08125 -1.079000 0.02226 GCC CRB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053990.3 + ENST00000373631.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY ANGPTL2 23452 broad.mit.edu 37 9 129870241 129870241 + Missense_Mutation SNP G G C TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr9:129870241G>C ENST00000373425.3 - 2.0 1387 c.770C>G c.(769-771)aCt>aGt p.T257S RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000491991.1_5'UTR|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000424082.2_Intron NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 257.0 multicellular organismal development (GO:0007275) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) receptor binding (GO:0005102) breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18.0 AGTGGGCATAGTGGGCAGAGG 0.577 0 109.0 106.0 107.0 9 129870241.0 2203.0 4300.0 6503.0 SO:0001583 missense AF125175 CCDS6868.1 9q34 2013-02-06 ENSG00000136859 ENSG00000136859 23452.0 23452.0 """Fibrinogen C domain containing""" 490.0 protein-coding gene gene with protein product 605001.0 10473614 Standard NM_012098 NM_012098 Approved ARP2, HARP uc004bqr.1 Q9UKU9 OTTHUMG00000020695 ENST00000373425.3:c.770C>G 9.__UNKNOWN__:g.129870241G>C ENSP00000362524:p.Thr257Ser Q5JT58|Q8NCH7 __UNKNOWN__ CCDS6868.1 . . . . . . . . . . G 12.44 1.939389 0.34189 . . ENSG00000136859 ENST00000373425 T 0.46451 0.87 5.32 5.32 0.75619 . 0.467757 0.23120 N 0.051710 T 0.36717 0.0977 L 0.43152 1.355 0.80722 D 1 B 0.28900 0.227 B 0.30316 0.114 T 0.19095 -1.0316 10 0.07030 T 0.85 . 19.3588 0.94425 0.0:0.0:1.0:0.0 . 257 Q9UKU9 ANGL2_HUMAN S 257 ENSP00000362524:T257S ENSP00000362524:T257S T - 2 0 ANGPTL2 128910062 1.000000 0.71417 1.000000 0.80357 0.932000 0.56968 9.660000 0.98599 2.640000 0.89533 0.655000 0.94253 ACT ANGPTL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054129.1 - ENST00000373425.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY DHX29 54505 broad.mit.edu 37 5 54579230 54579230 + Missense_Mutation SNP C C T TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr5:54579230C>T ENST00000251636.5 - 11.0 1914 c.1766G>A c.(1765-1767)cGg>cAg p.R589Q RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 589.0 Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}. eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743) 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) 46.0 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) AACCACTACCCGATGCCTTTT 0.398 C 1.0 0.0005 2184.0 1.0 , , 0.0003 0.0013 0.0005 1.0 LOWCOV,EXOME 0.0005 SNP 0 C GLN/ARG 0,4406 0,0,2203 121.0 128.0 125.0 1766 4.9 1.0 5 125.0 2,8596 2.2+/-6.3 0,2,4297 yes missense DHX29 NM_019030.2 43 0,2,6500 TT,TC,CC 0.0233,0.0,0.0154 probably-damaging 589/1370 54579230.0 2,13002 2203.0 4299.0 6502.0 SO:0001583 missense AY036974 CCDS34158.1 5q11.2 2008-02-05 2003-06-13 2003-06-20 ENSG00000067248 ENSG00000067248 54505.0 54505.0 """DEAH-boxes""" 15815.0 protein-coding gene gene with protein product 612720.0 """DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29""" DDX29 Standard NM_019030 XM_005248544 Approved uc003jpx.3 Q7Z478 OTTHUMG00000162313 ENST00000251636.5:c.1766G>A 5.__UNKNOWN__:g.54579230C>T ENSP00000251636:p.Arg589Gln O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2 __UNKNOWN__ CCDS34158.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 C 13.02 2.111602 0.37242 0.0 2.33E-4 ENSG00000067248 ENST00000251636 T 0.03982 3.74 5.74 4.87 0.63330 DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1); 0.114438 0.64402 D 0.000018 T 0.01254 0.0041 N 0.00427 -1.505 0.44366 D 0.99726 P 0.42375 0.778 B 0.31946 0.138 T 0.55541 -0.8125 10 0.05620 T 0.96 . 16.713 0.85389 0.0:0.8704:0.1296:0.0 . 589 Q7Z478 DHX29_HUMAN Q 589 ENSP00000251636:R589Q ENSP00000251636:R589Q R - 2 0 DHX29 54614987 1.000000 0.71417 1.000000 0.80357 0.894000 0.52154 4.707000 0.61852 1.409000 0.46915 -0.282000 0.10007 CGG DHX29-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000368532.1 - ENST00000251636.5 Missense_Mutation SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY PSMA7 5688 broad.mit.edu 37 20 60715937 60715937 + Nonsense_Mutation SNP G G A TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr20:60715937G>A ENST00000370873.4 - 2.0 286 c.160C>T c.(160-162)Cag>Tag p.Q54* PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370858.3_Nonsense_Mutation_p.Q54*|PSMA7_ENST00000370861.1_5'UTR NM_002792.3 NP_002783.1 O14818 PSA7_HUMAN proteasome (prosome, macropain) subunit, alpha type, 7 54.0 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773) identical protein binding (GO:0042802)|threonine-type endopeptidase activity (GO:0004298) large_intestine(1)|lung(2) 3.0 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) CTTTCATCCTGCAGTTTGGCC 0.468 0 280.0 192.0 222.0 20 60715937.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AF022815 CCDS13489.1 20q13.33 2008-07-02 ENSG00000101182 ENSG00000101182 5688.0 5688.0 """Proteasome (prosome, macropain) subunits""" 9536.0 protein-coding gene gene with protein product """proteasome subunit XAPC7"", ""proteasome subunit RC6-1""" 606607.0 8764072 Standard NM_002792 NM_002792 Approved XAPC7, C6, HSPC, RC6-1 uc002ybx.2 O14818 OTTHUMG00000032895 ENST00000370873.4:c.160C>T 20.__UNKNOWN__:g.60715937G>A ENSP00000359910:p.Gln54* B2R515|Q5JXJ2|Q9BR53|Q9H4K5|Q9UEU8 __UNKNOWN__ CCDS13489.1 . . . . . . . . . . G 38 6.669228 0.97747 . . ENSG00000101182 ENST00000370873;ENST00000370858 . . . 5.49 5.49 0.81192 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.66056 D 0.02 . 19.3625 0.94446 0.0:0.0:1.0:0.0 . . . . X 54 . ENSP00000359895:Q54X Q - 1 0 PSMA7 60149332 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.381000 0.97205 2.568000 0.86640 0.655000 0.94253 CAG PSMA7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079975.1 - ENST00000370873.4 Nonsense_Mutation SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY RET 5979 broad.mit.edu 37 10 43617416 43617416 + Missense_Mutation SNP T T C rs74799832 TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr10:43617416T>C ENST00000355710.3 + 16.0 2985 c.2753T>C c.(2752-2754)aTg>aCg p.M918T RET_ENST00000340058.5_Missense_Mutation_p.M918T NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 918.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. M -> T (in MEN2B and MTC; sporadic form; somatic mutation; also found in a patient with renal agenesis; dbSNP:rs74799832). {ECO:0000269|PubMed:18252215, ECO:0000269|PubMed:7906417, ECO:0000269|PubMed:7906866, ECO:0000269|PubMed:7911697, ECO:0000269|PubMed:8595427, ECO:0000269|PubMed:8807338}. activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657) endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) p.M918T(247) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607.0 Ovarian(717;0.0423) Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398) GTTAAATGGATGGCAATTGAA 0.443 1.0 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149) yes Dom yes Multiple endocrine neoplasia 2A/2B 10 10q11.2 5979.0 ret proto-oncogene yes """E, O""" 247 Substitution - Missense(247) thyroid(231)|adrenal_gland(16) GRCh37 CM941246 RET M rs74799832 262.0 244.0 250.0 10 43617416.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC BC004257 CCDS7200.1, CCDS53525.1 10q11.2 2014-09-17 2007-02-16 ENSG00000165731 ENSG00000165731 5979.0 5979.0 """Cadherins / Cadherin-related""" 9967.0 protein-coding gene gene with protein product """cadherin-related family member 16""" 164761.0 """multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1""" HSCR1, MEN2A, MTC1, MEN2B 2687772, 1611909 Standard NM_020975 NM_020975 Approved PTC, CDHF12, RET51, CDHR16 uc001jal.3 P07949 OTTHUMG00000018024 ENST00000355710.3:c.2753T>C 10.__UNKNOWN__:g.43617416T>C ENSP00000347942:p.Met918Thr A8K6Z2|Q15250|Q9BTB0|Q9H4A2 __UNKNOWN__ CCDS7200.1 . . . . . . . . . . T 23.5 4.427864 0.83667 . . ENSG00000165731 ENST00000355710;ENST00000340058 D;D 0.90504 -2.68;-2.68 5.43 5.43 0.79202 Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 D 0.93719 0.7993 L 0.52126 1.63 0.80722 A 1 D;D;D 0.89917 0.999;0.999;1.0 D;D;D 0.97110 0.999;1.0;1.0 D 0.94557 0.7759 9 0.87932 D 0 . 15.7766 0.78224 0.0:0.0:0.0:1.0 . 664;918;918 B4DGX8;P07949;P07949-2 .;RET_HUMAN;. T 918 ENSP00000347942:M918T;ENSP00000344798:M918T ENSP00000344798:M918T M + 2 0 RET 42937422 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 7.986000 0.88173 2.198000 0.70561 0.533000 0.62120 ATG RET-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000047694.2 + ENST00000355710.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY GC 2638 broad.mit.edu 37 4 72629626 72629626 + Silent SNP G G A rs149884974 byFrequency TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr4:72629626G>A ENST00000273951.8 - 5.0 844 c.501C>T c.(499-501)taC>taT p.Y167Y GC_ENST00000513476.1_Silent_p.Y167Y|GC_ENST00000504199.1_Silent_p.Y186Y|GC_ENST00000503472.1_5'UTR NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 167.0 Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}. small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180) blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202) actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183) p.Y167Y(1) endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45.0 all_hematologic(202;0.107) Lung(101;0.148) Alfacalcidol(DB01436)|Cholecalciferol(DB00169) GAGCTTGTCCGTAATTAGTGG 0.363 1 Substitution - coding silent(1) prostate(1) A ,, 12,4394 19.1+/-41.9 0,12,2191 84.0 87.0 86.0 501,501,558 -1.2 1.0 4 dbSNP_134 86.0 0,8600 0,0,4300 no coding-synonymous,coding-synonymous,coding-synonymous GC NM_000583.3,NM_001204306.1,NM_001204307.1 ,, 0,12,6491 AA,AG,GG 0.0,0.2724,0.0923 ,, 167/475,167/475,186/494 72629626.0 12,12994 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant L10641 CCDS3550.1, CCDS56332.1 4q12-q13 2008-08-29 ENSG00000145321 ENSG00000145321 2638.0 2638.0 4187.0 protein-coding gene gene with protein product 139200.0 558959 Standard NM_000583 Approved DBP, VDBP, hDBP uc010iif.3 P02774 OTTHUMG00000129915 ENST00000273951.8:c.501C>T 4.__UNKNOWN__:g.72629626G>A B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1 __UNKNOWN__ CCDS3550.1 GC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252167.2 - ENST00000273951.8 Silent SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY FOS 2353 broad.mit.edu 37 14 75746642 75746642 + Silent SNP G G A TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr14:75746642G>A ENST00000303562.4 + 2.0 413 c.204G>A c.(202-204)tcG>tcA p.S68S FOS_ENST00000554617.1_Silent_p.S68S|FOS_ENST00000555242.1_Silent_p.S68S|FOS_ENST00000535987.1_Silent_p.S68S|FOS_ENST00000555686.1_5'UTR NM_005252.3 NP_005243.1 P01100 FOS_HUMAN FBJ murine osteosarcoma viral oncogene homolog 68.0 aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12.0 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) Nadroparin(DB08813)|Pseudoephedrine(DB00852) CTGCCATCTCGACCAGTCCGG 0.642 0 87.0 85.0 86.0 14 75746642.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant K00650 CCDS9841.1 14q24.3 2013-01-10 2009-07-23 ENSG00000170345 2353.0 2353.0 """basic leucine zipper proteins""" 3796.0 protein-coding gene gene with protein product 164810.0 """v-fos FBJ murine osteosarcoma viral oncogene homolog""" 16123044, 16055710, 15926923 Standard NM_005252 NM_005252 Approved c-fos, AP-1 uc001xrn.3 P01100 ENST00000303562.4:c.204G>A 14.__UNKNOWN__:g.75746642G>A A8K4E2|B4DQ65|P18849 __UNKNOWN__ CCDS9841.1 . . . . . . . . . . G 3.550 -0.091893 0.07053 . . ENSG00000170345 ENST00000554212 . . . 5.95 -11.9 0.00025 . . . . . T 0.47414 0.1444 . . . 0.80722 D 1 . . . . . . T 0.63743 -0.6568 4 . . . -1.3749 10.8872 0.46974 0.2105:0.5964:0.0795:0.1136 . . . . N 59 . . D + 1 0 FOS 74816395 0.002000 0.14202 0.231000 0.23993 0.648000 0.38561 -1.555000 0.02170 -2.779000 0.00361 -2.169000 0.00324 GAC FOS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000415044.1 + ENST00000303562.4 Silent SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY Unknown 0 bcgsc.ca 37 6 27705123 27705123 + RNA SNP C C A TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr6:27705123C>A TRNAI6 (105812 upstream) : HIST1H2BL (70133 downstream) TGTGTTGGGACCAAAATTTCA 0.423 0 SO:0001628 intergenic_variant 6.__UNKNOWN__:g.27705123C>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY GAD2 2572 ucsc.edu 37 10 26506561 26506561 + Silent SNP T T A TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr10:26506561T>A ENST00000376261.3 + 2.0 602 c.99T>A c.(97-99)gcT>gcA p.A33A GAD2_ENST00000259271.3_Silent_p.A33A NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 33.0 glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268) anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672) glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170) central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48.0 GCCAAGTGGCTCAGAAGTTCA 0.597 0 56.0 45.0 49.0 10 26506561.0 2202.0 4300.0 6502.0 SO:0001819 synonymous_variant AJ251501 CCDS7149.1 10p13-p11.2 2003-11-11 2002-08-29 ENSG00000136750 ENSG00000136750 2572.0 2572.0 4.1.1.15 4093.0 protein-coding gene gene with protein product 138275 """glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)""" 2039509 Standard NM_000818 NM_000818 Approved GAD65 uc001isp.2 Q05329 OTTHUMG00000017836 ENST00000376261.3:c.99T>A 10.__UNKNOWN__:g.26506561T>A Q9UD87 __UNKNOWN__ CCDS7149.1 GAD2-001 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047255.1 + ENST00000376261.3 Silent SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY SLC8A2 6543 ucsc.edu 37 19 47933701 47933701 + Missense_Mutation SNP G G A TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr19:47933701G>A ENST00000236877.6 - 10.0 2806 c.2411C>T c.(2410-2412)gCg>gTg p.A804V SLC8A2_ENST00000542837.1_Missense_Mutation_p.A560V|SLC8A2_ENST00000539381.1_Missense_Mutation_p.A267V NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 804.0 blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium:sodium antiporter activity (GO:0005432) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31.0 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CTGCAGCGCCGCCACCTTGCT 0.701 0 17.0 15.0 15.0 19 47933701.0 2186.0 4278.0 6464.0 SO:0001583 missense AB029010 CCDS33065.1 19q13.32 2013-07-15 2008-09-02 ENSG00000118160 ENSG00000118160 6543.0 6543.0 """Solute carriers""" 11069.0 protein-coding gene gene with protein product 601901 8021246 Standard NM_015063 Approved NCX2, KIAA1087 uc002pgx.3 Q9UPR5 OTTHUMG00000183529 ENST00000236877.6:c.2411C>T 19.__UNKNOWN__:g.47933701G>A ENSP00000236877:p.Ala804Val B4DYQ9 __UNKNOWN__ CCDS33065.1 . . . . . . . . . . G 33 5.193968 0.94960 . . ENSG00000118160 ENST00000236877;ENST00000539381;ENST00000542837 T;T;T 0.66815 -0.23;-0.23;-0.23 4.2 3.12 0.35913 Sodium/calcium exchanger membrane region (1); 0.000000 0.64402 D 0.000004 T 0.81064 0.4745 M 0.82056 2.57 0.58432 D 0.999999 D 0.89917 1.0 D 0.91635 0.999 D 0.83747 0.0207 10 0.87932 D 0 . 13.0885 0.59154 0.0:0.1634:0.8366:0.0 . 804 Q9UPR5 NAC2_HUMAN V 804;267;560 ENSP00000236877:A804V;ENSP00000440588:A267V;ENSP00000437536:A560V ENSP00000236877:A804V A - 2 0 SLC8A2 52625513 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 9.585000 0.98223 1.080000 0.41073 0.456000 0.33151 GCG SLC8A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466997.1 - ENST00000236877.6 Missense_Mutation SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY TREX2 55559 unc.edu 37 X 152735964 152735964 + Missense_Mutation SNP C C T rs142071928 byFrequency TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS;RNA-Seq none Illumina HiSeq f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chrX:152735964C>T ENST00000330912.2 - 0.0 81 HAUS7_ENST00000370211.4_Missense_Mutation_p.D28N|HAUS7_ENST00000421080.2_5'UTR|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370210.1_Missense_Mutation_p.D18N|HAUS7_ENST00000370212.3_Missense_Mutation_p.D28N|TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000334497.2_5'UTR Q9BQ50 TREX2_HUMAN three prime repair exonuclease 2 DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281) nucleus (GO:0005634) 3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803) endometrium(4)|large_intestine(2)|lung(3)|ovary(2) 11.0 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCGCCCTCGTCCTCTGAGTAG 0.711 Editing and processing nucleases C 13.0 0.01 0.03 0.01 1659.0 0.9985 , , 0.0003 0.0093 0.9277 EXOME 0.0002 SNP 0 C ASN/ASP 56,3762 0,46,10,1583,550 25.0 19.0 21.0 82 2.6 0.0 X dbSNP_134 21.0 0,6720 0,0,0,2427,1866 no missense HAUS7 NM_017518.6 23 0,46,10,4010,2416 TT,TC,T,CC,C 0.0,1.4667,0.5314 possibly-damaging 28/369 152735964.0 56,10482 2189.0 4293.0 6482.0 SO:0001623 5_prime_UTR_variant AF151107 CCDS35437.1 Xq28 2012-05-08 ENSG00000183479 ENSG00000183479 11219.0 11219.0 12270.0 protein-coding gene gene with protein product 300370 10391904 Standard NM_080701 NM_080701 Approved uc011myp.2 Q9BQ50 OTTHUMG00000159319 ENST00000330912.2:c.-1470G>A X.__UNKNOWN__:g.152735964C>T Q45F08|Q9UN77 __UNKNOWN__ CCDS35437.1 13 0.007836045810729355 8 0.016597510373443983 1 0.002777777777777778 0 0.0 0 0.0 C 11.61 1.689837 0.29962 0.014667 0.0 ENSG00000213397 ENST00000370211;ENST00000370219;ENST00000370212;ENST00000370210 T;T;T;T 0.27104 1.69;1.69;1.69;1.69 4.35 2.56 0.30785 . 1.005240 0.08005 N 0.989459 T 0.08758 0.0217 N 0.22421 0.69 0.21020 N 0.999807 B;B 0.11235 0.004;0.004 B;B 0.10450 0.003;0.005 T 0.27872 -1.0061 10 0.37606 T 0.19 -0.6919 6.7148 0.23296 0.0:0.761:0.0:0.239 . 28;28 Q99871;Q99871-2 HAUS7_HUMAN;. N 18;28;28;18 ENSP00000359230:D18N;ENSP00000359239:D28N;ENSP00000359231:D28N;ENSP00000359229:D18N ENSP00000359229:D18N D - 1 0 HAUS7 152389158 0.000000 0.05858 0.000000 0.03702 0.046000 0.14306 -0.130000 0.10498 0.384000 0.24942 0.529000 0.55759 GAC TREX2-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060962.2 - ENST00000330912.2 5'UTR SNP PCPG-TCGA-QT-A5XK-Normal-SM-5EQGY NBEAL2 23218 broad.mit.edu 37 3 47043265 47043265 + Silent SNP G G A rs142878502 by1000genomes TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr3:47043265G>A ENST00000450053.3 + 30.0 4910 c.4731G>A c.(4729-4731)gcG>gcA p.A1577A NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.A1393A NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1577.0 blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) 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) 51.0 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) GTGAGATGGCGCAGATTGGCC 0.602 G 5.0 0.0023 0.01 2184.0 0.9999 , , 0.0003 0.0024 0.9751 LOWCOV,EXOME 0.0004 SNP 0 91.0 95.0 94.0 3 47043265.0 2122.0 4257.0 6379.0 SO:0001819 synonymous_variant AB011112 CCDS46817.1 3p21.31 2014-09-17 ENSG00000160796 ENSG00000160796 23218.0 23218.0 """WD repeat domain containing""" 31928.0 protein-coding gene gene with protein product 614169.0 Standard XM_291064 NM_015175 Approved KIAA0540 uc003cqp.3 Q6ZNJ1 OTTHUMG00000156497 ENST00000450053.3:c.4731G>A 3.__UNKNOWN__:g.47043265G>A O60288|Q6P994|Q6UX91|Q8NAC9 __UNKNOWN__ CCDS46817.1 5 0.0022893772893772895 5 0.01016260162601626 0 0.0 0 0.0 0 0.0 G 10.05 1.244193 0.22796 . . ENSG00000160796 ENST00000416683 . . . 5.2 -10.4 0.00318 . . . . . T 0.27098 0.0664 . . . 0.80722 D 1 . . . . . . T 0.42832 -0.9428 4 . . . . 3.8024 0.08764 0.124:0.2892:0.3966:0.1903 . . . . H 865 . . R + 2 0 NBEAL2 47018269 0.001000 0.12720 0.867000 0.34043 0.976000 0.68499 -1.374000 0.02566 -1.592000 0.01619 -0.414000 0.06135 CGC NBEAL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000344363.3 + ENST00000450053.3 Silent SNP PCPG-TCGA-QT-A5XL-Normal-SM-5EQH9 CHD3 1107 broad.mit.edu 37 17 7802767 7802767 + Missense_Mutation SNP C C T TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr17:7802767C>T ENST00000380358.4 + 15.0 2628 c.2627C>T c.(2626-2628)aCg>aTg p.T876M CHD3_ENST00000330494.7_Missense_Mutation_p.T817M|CHD3_ENST00000358181.4_Missense_Mutation_p.T817M NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 817.0 Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}. centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351) centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65.0 Prostate(122;0.202) GTGACATACACGGGTGACAAG 0.493 0 144.0 140.0 141.0 17 7802767.0 2203.0 4300.0 6503.0 SO:0001583 missense U08379 CCDS32553.2, CCDS32554.1, CCDS32555.1 17p13 2013-01-28 ENSG00000170004 ENSG00000170004 1107.0 1107.0 """Zinc fingers, PHD-type""" 1918.0 protein-coding gene gene with protein product 602120.0 9326634, 7560064 Standard NM_001005273 NM_001005271 Approved Mi-2a, ZFH, Mi2-ALPHA uc002gjd.2 Q12873 OTTHUMG00000150427 ENST00000380358.4:c.2627C>T 17.__UNKNOWN__:g.7802767C>T ENSP00000369716:p.Thr876Met D3DTQ9|E9PG89|Q9Y4I0 __UNKNOWN__ CCDS32553.2 . . . . . . . . . . C 16.83 3.231990 0.58777 . . ENSG00000170004 ENST00000380358;ENST00000358181;ENST00000330494 D;D;D 0.93133 -3.17;-3.17;-3.17 5.06 5.06 0.68205 DEAD-like helicase (2);SNF2-related (1); 0.000000 0.47093 D 0.000241 D 0.95207 0.8446 L 0.41079 1.255 0.58432 D 0.999999 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.998;0.999;0.999 D 0.95462 0.8544 10 0.72032 D 0.01 -20.0922 19.0357 0.92976 0.0:1.0:0.0:0.0 . 817;817;876 Q12873-2;Q12873;E9PG89 .;CHD3_HUMAN;. M 876;817;817 ENSP00000369716:T876M;ENSP00000350907:T817M;ENSP00000332628:T817M ENSP00000332628:T817M T + 2 0 CHD3 7743492 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 3.216000 0.51176 2.809000 0.96659 0.555000 0.69702 ACG CHD3-003 NOVEL not_organism_supported|basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000318052.1 + ENST00000380358.4 Missense_Mutation SNP PCPG-TCGA-QT-A5XL-Normal-SM-5EQH9 ATP4A 495 broad.mit.edu 37 19 36054315 36054315 + Missense_Mutation SNP G G T TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr19:36054315G>T ENST00000262623.3 - 2.0 155 c.127C>A c.(127-129)Ctg>Atg p.L43M NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 43.0 ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810) extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53.0 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129) ATGTTCTCCAGCTTCTCCTTC 0.642 0 198.0 196.0 197.0 19 36054315.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS12467.1 19q13.1 2010-04-20 ENSG00000105675 ENSG00000105675 495.0 495.0 3.6.3.10 """ATPases / P-type""" 819.0 protein-coding gene gene with protein product """gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump""" 137216.0 1330887 Standard NM_000704 NM_000704 Approved ATP6A uc002oal.1 P20648 OTTHUMG00000048106 ENST00000262623.3:c.127C>A 19.__UNKNOWN__:g.36054315G>T ENSP00000262623:p.Leu43Met O00738 __UNKNOWN__ CCDS12467.1 . . . . . . . . . . G 13.11 2.138509 0.37728 . . ENSG00000105675 ENST00000262623 D 0.93604 -3.25 4.48 3.44 0.39384 ATPase, P-type, gastric H+/K+-transporter, N-terminal (1); 0.572276 0.13680 N 0.370267 D 0.84374 0.5458 N 0.08118 0 0.33585 D 0.600397 B 0.17465 0.022 B 0.17979 0.02 T 0.81243 -0.1021 10 0.26408 T 0.33 . 10.5621 0.45152 0.095:0.0:0.905:0.0 . 43 P20648 ATP4A_HUMAN M 43 ENSP00000262623:L43M ENSP00000262623:L43M L - 1 2 ATP4A 40746155 0.992000 0.36948 1.000000 0.80357 0.985000 0.73830 0.626000 0.24492 1.128000 0.42052 -0.139000 0.14373 CTG ATP4A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000109470.2 - ENST00000262623.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XL-Normal-SM-5EQH9 RPRD2 23248 broad.mit.edu 37 1 150390085 150390085 + Missense_Mutation SNP C C A TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr1:150390085C>A ENST00000369068.4 + 2.0 223 c.219C>A c.(217-219)caC>caA p.H73Q RPRD2_ENST00000539519.1_Missense_Mutation_p.H73Q|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.H73Q|RPRD2_ENST00000369067.3_Missense_Mutation_p.H73Q NM_015203.3 NP_056018.2 Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 73.0 CID. {ECO:0000255|PROSITE- ProRule:PRU00724}. DNA-directed RNA polymerase II, holoenzyme (GO:0016591) central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37.0 CATATCCCCACCGTTTGAATC 0.353 0 231.0 217.0 221.0 1 150390085.0 1863.0 4101.0 5964.0 SO:0001583 missense BX641025 CCDS44216.1, CCDS72907.1 1q21.2 2012-02-09 2008-08-15 2008-07-28 ENSG00000163125 ENSG00000163125 23248.0 23248.0 29039.0 protein-coding gene gene with protein product 614695.0 """KIAA0460""" KIAA0460 22231121 Standard NM_015203 XM_005245033 Approved FLJ32145, HSPC099 uc009wlr.3 Q5VT52 OTTHUMG00000012808 ENST00000369068.4:c.219C>A 1.__UNKNOWN__:g.150390085C>A ENSP00000358064:p.His73Gln A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7 __UNKNOWN__ CCDS44216.1 . . . . . . . . . . C 13.24 2.177558 0.38413 . . ENSG00000163125 ENST00000401000;ENST00000539519;ENST00000369067;ENST00000369068 T;T;T;T 0.39787 1.06;1.06;1.06;1.06 5.52 2.03 0.26663 ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2); 0.092518 0.85682 D 0.000000 T 0.25606 0.0623 N 0.17631 0.505 0.54753 D 0.999981 P;B;D 0.76494 0.501;0.361;0.999 B;B;D 0.80764 0.154;0.154;0.994 T 0.04467 -1.0949 10 0.15952 T 0.53 -1.3603 8.1931 0.31381 0.0:0.4782:0.0:0.5218 . 73;73;73 B4E2Q6;Q5VT52;Q5VT52-3 .;RPRD2_HUMAN;. Q 73 ENSP00000383785:H73Q;ENSP00000445482:H73Q;ENSP00000358063:H73Q;ENSP00000358064:H73Q ENSP00000358063:H73Q H + 3 2 RPRD2 148656709 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 0.854000 0.27791 0.189000 0.20188 0.650000 0.86243 CAC RPRD2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000035844.1 + ENST00000369068.4 Missense_Mutation SNP PCPG-TCGA-QT-A5XL-Normal-SM-5EQH9 RUNX1T1 862 broad.mit.edu 37 8 93003905 93003905 + Missense_Mutation SNP G G A TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr8:93003905G>A ENST00000523629.1 - 7.0 1407 c.953C>T c.(952-954)cCc>cTc p.P318L RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P291L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P329L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P281L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P281L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P318L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P281L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P291L NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 318.0 fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351) nuclear matrix (GO:0016363) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86.0 BRCA - Breast invasive adenocarcinoma(11;0.0141) CCTGTGGCTGGGGTGTCGATA 0.542 0 187.0 168.0 174.0 8 93003905.0 2203.0 4300.0 6503.0 SO:0001583 missense D43638 CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1 8q22 2007-01-29 2005-01-20 2005-01-22 ENSG00000079102 ENSG00000079102 862.0 862.0 """Zinc fingers, MYND-type""" 1535.0 protein-coding gene gene with protein product 133435.0 """core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related""" AML1T1, CBFA2T1 1391946, 9790752 Standard NM_004349, NM_175635 NM_004349 Approved CDR, ETO, MTG8, ZMYND2 uc011lgi.2 Q06455 OTTHUMG00000164066 ENST00000523629.1:c.953C>T 8.__UNKNOWN__:g.93003905G>A ENSP00000428543:p.Pro318Leu B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0 __UNKNOWN__ CCDS6256.1 . . . . . . . . . . G 13.78 2.338425 0.41398 . . ENSG00000079102 ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844 T;T;T;T;T;T;T;T 0.29655 1.57;1.56;1.57;1.56;1.56;1.56;1.57;1.56 6.17 6.17 0.99709 . 0.000000 0.85682 D 0.000000 T 0.28863 0.0716 L 0.46157 1.445 0.80722 D 1 B;B;B 0.11235 0.0;0.0;0.004 B;B;B 0.12156 0.001;0.001;0.007 T 0.23797 -1.0178 10 0.05525 T 0.97 -19.9831 20.4745 0.99168 0.0:0.0:1.0:0.0 . 329;318;291 E7EPN4;Q06455;Q06455-2 .;MTG8_HUMAN;. L 318;291;318;281;281;281;329;291 ENSP00000428543:P318L;ENSP00000379520:P291L;ENSP00000265814:P318L;ENSP00000353504:P281L;ENSP00000390137:P281L;ENSP00000428742:P281L;ENSP00000402257:P329L;ENSP00000430728:P291L ENSP00000265814:P318L P - 2 0 RUNX1T1 93073081 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.619000 0.83057 2.941000 0.99782 0.655000 0.94253 CCC RUNX1T1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000377045.3 - ENST00000523629.1 Missense_Mutation SNP PCPG-TCGA-QT-A5XL-Normal-SM-5EQH9 FAM46D 169966 broad.mit.edu 37 X 79698960 79698960 + Missense_Mutation SNP G G A TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chrX:79698960G>A ENST00000308293.5 + 3.0 1161 c.922G>A c.(922-924)Gaa>Aaa p.E308K FAM46D_ENST00000538312.1_Missense_Mutation_p.E308K NM_152630.4 NP_689843.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 308.0 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23.0 AGTTGTGAATGAAAGCACTGT 0.388 0 140.0 118.0 126.0 X 79698960.0 2203.0 4298.0 6501.0 SO:0001583 missense BX537938 CCDS14446.1 Xq21.1 2009-08-18 ENSG00000174016 ENSG00000174016 169966.0 169966.0 28399.0 protein-coding gene gene with protein product """cancer/testis antigen 112""" 12477932 Standard NM_152630 NM_152630 Approved MGC26999, CT1.26, CT112 uc004edl.1 Q8NEK8 OTTHUMG00000021902 ENST00000308293.5:c.922G>A X.__UNKNOWN__:g.79698960G>A ENSP00000308575:p.Glu308Lys B2R9Q6|Q7Z3F6|Q8NHU1 __UNKNOWN__ CCDS14446.1 . . . . . . . . . . G 10.35 1.326531 0.24080 . . ENSG00000174016 ENST00000538312;ENST00000308293 T;T 0.25749 1.78;1.78 4.35 3.48 0.39840 Domain of unknown function DUF1693 (1); 0.202421 0.42294 D 0.000740 T 0.34019 0.0883 M 0.85462 2.755 0.50171 D 0.999854 B 0.21606 0.058 B 0.23018 0.043 T 0.22452 -1.0216 10 0.54805 T 0.06 -3.9968 11.5429 0.50677 0.0:0.2082:0.7918:0.0 . 308 Q8NEK8 FA46D_HUMAN K 308 ENSP00000443410:E308K;ENSP00000308575:E308K ENSP00000308575:E308K E + 1 0 FAM46D 79585616 1.000000 0.71417 0.999000 0.59377 0.047000 0.14425 3.831000 0.55776 0.837000 0.34925 0.583000 0.79449 GAA FAM46D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057338.1 + ENST00000308293.5 Missense_Mutation SNP PCPG-TCGA-QT-A5XL-Normal-SM-5EQH9 ATP13A3 79572 broad.mit.edu 37 3 194154518 194154518 + Missense_Mutation SNP C C T TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr3:194154518C>T ENST00000439040.1 - 21.0 3019 c.2228G>A c.(2227-2229)cGc>cAc p.R743H ATP13A3_ENST00000256031.4_Missense_Mutation_p.R743H Q9H7F0 AT133_HUMAN ATPase type 13A3 743.0 integral component of membrane (GO:0016021)|membrane (GO:0016020) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872) NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24.0 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) CATGACGGTGCGAATGTTGGC 0.348 0 172.0 157.0 161.0 3 194154518.0 1858.0 4098.0 5956.0 SO:0001583 missense AJ306929 CCDS43187.1 3q29 2010-04-20 ENSG00000133657 ENSG00000133657 79572.0 79572.0 """ATPases / P-type""" 24113.0 protein-coding gene gene with protein product """ATPase family homolog up regulated in senescence cells""" 610232.0 11867234 Standard NM_024524 NM_024524 Approved AFURS1 uc003fty.4 Q9H7F0 OTTHUMG00000156034 ENST00000439040.1:c.2228G>A 3.__UNKNOWN__:g.194154518C>T ENSP00000416508:p.Arg743His Q8NC11|Q96KS1 __UNKNOWN__ CCDS43187.1 . . . . . . . . . . C 34 5.388233 0.95988 . . ENSG00000133657 ENST00000439040;ENST00000256031;ENST00000310773 T;T 0.71222 -0.55;-0.55 5.86 5.86 0.93980 HAD-like domain (2); 0.000000 0.85682 D 0.000000 D 0.84437 0.5472 M 0.71206 2.165 0.80722 D 1 D 0.89917 1.0 D 0.75484 0.986 D 0.84581 0.0661 10 0.66056 D 0.02 -1.7781 20.1802 0.98196 0.0:1.0:0.0:0.0 . 743 Q9H7F0 AT133_HUMAN H 743;743;481 ENSP00000416508:R743H;ENSP00000256031:R743H ENSP00000256031:R743H R - 2 0 ATP13A3 195635807 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.818000 0.86416 2.777000 0.95525 0.655000 0.94253 CGC ATP13A3-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000342799.2 - ENST00000439040.1 Missense_Mutation SNP PCPG-TCGA-QT-A5XL-Normal-SM-5EQH9 EPAS1 2034 broad.mit.edu 37 2 46607402 46607402 + Missense_Mutation SNP C C T TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr2:46607402C>T ENST00000263734.3 + 12.0 2101 c.1591C>T c.(1591-1593)Ccc>Tcc p.P531S NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 531.0 NTAD. angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601) cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134) 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) 39.0 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) GACACTGGCACCCTATATCCC 0.587 0 85.0 93.0 91.0 2 46607402.0 2203.0 4300.0 6503.0 SO:0001583 missense U81984 CCDS1825.1 2p21-p16 2013-05-21 ENSG00000116016 ENSG00000116016 2034.0 2034.0 """Basic helix-loop-helix proteins""" 3374.0 protein-coding gene gene with protein product """HIF-1 alpha-like factor""" 603349.0 9000051, 9079689, 18378852 Standard NM_001430 NM_001430 Approved MOP2, PASD2, HIF2A, HLF, bHLHe73 uc002ruv.3 Q99814 OTTHUMG00000128818 ENST00000263734.3:c.1591C>T 2.__UNKNOWN__:g.46607402C>T ENSP00000263734:p.Pro531Ser Q86VA2|Q99630 __UNKNOWN__ CCDS1825.1 . . . . . . . . . . C 29.2 4.989153 0.93106 . . ENSG00000116016 ENST00000263734 D 0.99511 -6.05 5.06 5.06 0.68205 . 0.000000 0.85682 D 0.000000 D 0.99444 0.9803 M 0.70595 2.14 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.98897 1.0775 10 0.87932 D 0 . 18.4411 0.90666 0.0:1.0:0.0:0.0 . 531 Q99814 EPAS1_HUMAN S 531 ENSP00000263734:P531S ENSP00000263734:P531S P + 1 0 EPAS1 46460906 1.000000 0.71417 0.997000 0.53966 0.970000 0.65996 7.814000 0.86154 2.361000 0.80049 0.491000 0.48974 CCC EPAS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250752.2 + ENST00000263734.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XL-Normal-SM-5EQH9 CCT6B 10693 broad.mit.edu 37 17 33285700 33285700 + Missense_Mutation SNP G G T TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr17:33285700G>T ENST00000314144.5 - 3.0 330 c.215C>A c.(214-216)cCa>cAa p.P72Q CCT6B_ENST00000421975.3_Missense_Mutation_p.P72Q|CCT6B_ENST00000436961.3_Intron NM_006584.3 NP_006575.2 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B (zeta 2) 72.0 chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283) chaperonin-containing T-complex (GO:0005832) ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 20.0 Ovarian(249;0.17) GGAAGCTGTTGGATGTTGAAT 0.388 0 91.0 80.0 84.0 17 33285700.0 2203.0 4300.0 6503.0 SO:0001583 missense D78333 CCDS32617.1, CCDS54105.1, CCDS54106.1 17q 2011-09-02 ENSG00000132141 ENSG00000132141 10693.0 10693.0 """Heat Shock Proteins / Chaperonins""" 1621.0 protein-coding gene gene with protein product 610730.0 8812458, 9013858 Standard NM_006584 NM_006584 Approved Cctz2, TSA303 uc002hig.3 Q92526 ENST00000314144.5:c.215C>A 17.__UNKNOWN__:g.33285700G>T ENSP00000327191:p.Pro72Gln B4DX20|B4DYB0|Q8TC34 __UNKNOWN__ CCDS32617.1 . . . . . . . . . . G 21.9 4.222739 0.79464 . . ENSG00000132141 ENST00000421975;ENST00000314144 T;T 0.33865 1.39;1.39 4.72 4.72 0.59763 Chaperonin TCP-1, conserved site (1); 0.000000 0.85682 D 0.000000 T 0.66025 0.2748 M 0.89353 3.025 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.85130 0.997;0.994 T 0.73297 -0.4027 10 0.87932 D 0 -9.059 15.5625 0.76258 0.0:0.0:1.0:0.0 . 72;72 B4DX20;Q92526 .;TCPW_HUMAN Q 72 ENSP00000398044:P72Q;ENSP00000327191:P72Q ENSP00000327191:P72Q P - 2 0 CCT6B 30309813 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 8.965000 0.93393 2.591000 0.87537 0.650000 0.86243 CCA CCT6B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000448014.1 - ENST00000314144.5 Missense_Mutation SNP PCPG-TCGA-QT-A5XL-Normal-SM-5EQH9 ARHGEF40 55701 broad.mit.edu 37 14 21549078 21549078 + Missense_Mutation SNP C C T TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr14:21549078C>T ENST00000298694.4 + 13.0 2670 c.2543C>T c.(2542-2544)gCc>gTc p.A848V ARHGEF40_ENST00000298693.3_Missense_Mutation_p.A848V Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 848.0 cytoplasm (GO:0005737) Rho guanyl-nucleotide exchange factor activity (GO:0005089) large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9.0 GAGGAGAATGCCACCTCCCAG 0.642 0 77.0 77.0 77.0 14 21549078.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS32041.1 14q11.2 2012-07-24 ENSG00000165801 ENSG00000165801 55701.0 55701.0 """Rho guanine nucleotide exchange factors""" 25516.0 protein-coding gene gene with protein product 610018.0 16143467 Standard NM_001278529 Approved solo, FLJ10357 uc001vzp.3 Q8TER5 ENST00000298694.4:c.2543C>T 14.__UNKNOWN__:g.21549078C>T ENSP00000298694:p.Ala848Val A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24 __UNKNOWN__ CCDS32041.1 . . . . . . . . . . C 2.232 -0.375854 0.05034 . . ENSG00000165801 ENST00000298694;ENST00000298693 T;T 0.02421 4.36;4.3 5.52 2.68 0.31781 . 1.307500 0.05148 N 0.495565 T 0.01661 0.0053 N 0.03608 -0.345 0.09310 N 1 B;B 0.06786 0.001;0.001 B;B 0.06405 0.002;0.001 T 0.45527 -0.9255 10 0.13108 T 0.6 . 6.5485 0.22420 0.0:0.7095:0.0:0.2905 . 848;848 Q8TER5-4;Q8TER5 .;ARH40_HUMAN V 848 ENSP00000298694:A848V;ENSP00000298693:A848V ENSP00000298693:A848V A + 2 0 ARHGEF40 20618918 0.000000 0.05858 0.001000 0.08648 0.961000 0.63080 0.449000 0.21744 0.666000 0.31087 0.555000 0.69702 GCC ARHGEF40-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000413122.1 + ENST00000298694.4 Missense_Mutation SNP PCPG-TCGA-QT-A5XL-Normal-SM-5EQH9 PCDHA7 0 broad.mit.edu 37 5 140215201 140215201 + Silent SNP C C T rs145763112 TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr5:140215201C>T ENST00000525929.1 + 1.0 1233 c.1233C>T c.(1231-1233)agC>agT p.S411S PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.S411S NM_018910.2 NP_061733.1 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 411.0 Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}. cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399) integral component of plasma membrane (GO:0005887) calcium ion binding (GO:0005509) 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) 63.0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGGACAGCGCTCTGGACC 0.597 NSCLC(160;258 2013 5070 22440 28951) 0 125.0 124.0 125.0 5 140215201.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF152485 CCDS54918.1 5q31 2010-11-26 ENSG00000204963 56141.0 56141.0 """Cadherins / Protocadherins : Clustered""" 8673.0 other complex locus constituent """KIAA0345-like 7"", ""ortholog to mouse CNR4""" 606313.0 CNRS4 10380929, 10662547 Standard NM_018910 NM_018910 Approved CNR4, CRNR4 Q9UN72 ENST00000525929.1:c.1233C>T 5.__UNKNOWN__:g.140215201C>T O75282 __UNKNOWN__ CCDS54918.1 PCDHA7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000372887.2 + ENST00000525929.1 Silent SNP PCPG-TCGA-QT-A5XL-Normal-SM-5EQH9 SERTM1 400120 broad.mit.edu 37 13 37269242 37269242 + Silent SNP A A T TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr13:37269242A>T ENST00000315190.3 + 2.0 473 c.27A>T c.(25-27)ggA>ggT p.G9G NM_203451.2 NP_982276.2 A2A2V5 SRTM1_HUMAN serine-rich and transmembrane domain containing 1 9.0 integral component of membrane (GO:0016021) CTTCCTCAGGATTTTCGGGAA 0.478 0 118.0 113.0 114.0 13 37269242.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS9358.1 13q13.3 2011-08-10 2011-08-10 2011-08-09 ENSG00000180440 ENSG00000180440 400120.0 400120.0 33792.0 protein-coding gene gene with protein product """chromosome 13 open reading frame 36""" C13orf36 Standard NM_203451 NM_203451 Approved uc001uvt.4 A2A2V5 OTTHUMG00000016735 ENST00000315190.3:c.27A>T 13.__UNKNOWN__:g.37269242A>T Q8N469 __UNKNOWN__ CCDS9358.1 SERTM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044518.2 + ENST00000315190.3 Silent SNP PCPG-TCGA-QT-A5XL-Normal-SM-5EQH9 DCAF12L1 139170 broad.mit.edu 37 X 125685938 125685938 + Silent SNP C C T TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chrX:125685938C>T ENST00000371126.1 - 1.0 896 c.654G>A c.(652-654)gcG>gcA p.A218A NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 218.0 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68.0 TCCGCCACAGCGCCACAGTGC 0.652 0 32.0 34.0 33.0 X 125685938.0 2201.0 4296.0 6497.0 SO:0001819 synonymous_variant BC035674 CCDS14610.1 Xq25 2013-01-09 2009-07-17 2009-07-17 ENSG00000198889 ENSG00000198889 139170.0 139170.0 """WD repeat domain containing""" 29395.0 protein-coding gene gene with protein product """WD repeat domain 40B""" WDR40B 12477932 Standard NM_178470 NM_178470 Approved KIAA1892L uc004eul.3 Q5VU92 OTTHUMG00000022353 ENST00000371126.1:c.654G>A X.__UNKNOWN__:g.125685938C>T Q8IYK3 __UNKNOWN__ CCDS14610.1 DCAF12L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058186.1 - ENST00000371126.1 Silent SNP PCPG-TCGA-QT-A5XL-Normal-SM-5EQH9 AGPAT9 84803 bcgsc.ca 37 4 84516095 84516095 + Missense_Mutation SNP G G A TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr4:84516095G>A ENST00000395226.2 + 8.0 1054 c.836G>A c.(835-837)cGa>cAa p.R279Q AGPAT9_ENST00000264409.4_Missense_Mutation_p.R279Q NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 279.0 CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13.0 Hepatocellular(203;0.114) ATGAAGGATCGACACCTGGTT 0.478 0 127.0 121.0 123.0 4 84516095.0 2203.0 4300.0 6503.0 SO:0001583 missense AK055749 CCDS3606.1 4q21.23 2014-02-13 2008-01-29 ENSG00000138678 ENSG00000138678 84803.0 84803.0 2.3.1.15 """1-acylglycerol-3-phosphate O-acyltransferases""" 28157.0 protein-coding gene gene with protein product """lysophosphatidic acid acyltransferase, theta""" 610958 """1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)""" 12975309 Standard NM_032717 NM_001256421 Approved MGC11324, LPAAT-theta, MAG1, HMFN0839 uc003how.4 Q53EU6 OTTHUMG00000130431 ENST00000395226.2:c.836G>A 4.__UNKNOWN__:g.84516095G>A ENSP00000378651:p.Arg279Gln Q68CJ4|Q6GPI6|Q96NA3 __UNKNOWN__ CCDS3606.1 . . . . . . . . . . G 18.37 3.610121 0.66558 . . ENSG00000138678 ENST00000395226;ENST00000264409 D;D 0.93366 -3.21;-3.21 5.28 3.55 0.40652 Phospholipid/glycerol acyltransferase (2); 0.113265 0.64402 D 0.000014 D 0.94355 0.8185 H 0.94771 3.58 0.80722 D 1 B 0.19935 0.04 B 0.17098 0.017 D 0.91978 0.5592 10 0.72032 D 0.01 -8.7173 10.3881 0.44152 0.0695:0.0:0.7959:0.1346 . 279 Q53EU6 GPAT3_HUMAN Q 279 ENSP00000378651:R279Q;ENSP00000264409:R279Q ENSP00000264409:R279Q R + 2 0 AGPAT9 84735119 1.000000 0.71417 0.988000 0.46212 0.426000 0.31534 9.657000 0.98554 0.784000 0.33661 -0.182000 0.12963 CGA AGPAT9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252821.3 + ENST00000395226.2 Missense_Mutation SNP PCPG-TCGA-QT-A5XL-Normal-SM-5EQH9 NFE2L1 4779 ucsc.edu 37 17 46136296 46136296 + Missense_Mutation SNP G G A TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr17:46136296G>A ENST00000361665.3 + 6.0 2183 c.1579G>A c.(1579-1581)Gcc>Acc p.A527T NFE2L1_ENST00000583378.1_Missense_Mutation_p.A339T|NFE2L1_ENST00000536222.1_Missense_Mutation_p.A382T|NFE2L1_ENST00000585291.1_Missense_Mutation_p.A508T|NFE2L1_ENST00000362042.3_Missense_Mutation_p.A538T|NFE2L1_ENST00000582155.1_Missense_Mutation_p.A350T|NFE2L1_ENST00000357480.5_Missense_Mutation_p.A508T Q14494 NF2L1_HUMAN nuclear factor, erythroid 2-like 1 538.0 anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712) cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32.0 TCTGGAAGAGGCCGAGGGTGC 0.567 0 53.0 50.0 51.0 17 46136296.0 2203.0 4300.0 6503.0 SO:0001583 missense AK090459 CCDS11524.1 17q21.3 2013-08-23 2013-08-23 ENSG00000082641 4779.0 4779.0 """basic leucine zipper proteins""" 7781.0 protein-coding gene gene with protein product 163260 """nuclear factor (erythroid-derived 2)-like 1""" TCF11 8248256, 9501099 Standard NM_003204 NM_003204 Approved NRF1, LCR-F1, FLJ00380 uc002imz.4 Q14494 ENST00000361665.3:c.1579G>A 17.__UNKNOWN__:g.46136296G>A ENSP00000355190:p.Ala527Thr D3DTU3|D3DTU5|Q12877|Q96FN6 __UNKNOWN__ . . . . . . . . . . G 12.88 2.070584 0.36566 . . ENSG00000082641 ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222 D;D 0.95069 -3.6;-3.6 5.57 3.51 0.40186 . 0.212395 0.48286 D 0.000184 D 0.89030 0.6599 L 0.44542 1.39 0.38669 D 0.952275 B;B;B;B 0.23249 0.082;0.02;0.034;0.031 B;B;B;B 0.28011 0.085;0.024;0.053;0.05 T 0.80823 -0.1210 10 0.11485 T 0.65 -16.6288 5.5321 0.16990 0.077:0.1395:0.6394:0.1441 . 382;350;508;538 F5H1B7;B4DYE1;Q14494-2;Q14494 .;.;.;NF2L1_HUMAN T 557;538;508;382 ENSP00000350072:A508T;ENSP00000445811:A382T ENSP00000350072:A508T A + 1 0 NFE2L1 43491295 0.998000 0.40836 0.972000 0.41901 0.998000 0.95712 1.723000 0.38053 1.363000 0.46019 0.563000 0.77884 GCC NFE2L1-006 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000443024.1 + ENST00000361665.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XL-Normal-SM-5EQH9 C19orf43 79002 broad.mit.edu 37 19 12842217 12842217 + Missense_Mutation SNP C C T TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr19:12842217C>T ENST00000592273.1 - 2.0 354 C19orf43_ENST00000588213.1_Missense_Mutation_p.R114Q|C19orf43_ENST00000242784.4_Missense_Mutation_p.G122R Q9BQ61 CS043_HUMAN chromosome 19 open reading frame 43 endometrium(2)|large_intestine(2) 4.0 AGTTTGTTCCCGCCTCTGCGT 0.597 C 1.0 0.0005 2184.0 0.0017 0.9998 , , 0.0003 0.0005 0.7831 LOWCOV,EXOME 0.0009 SNP 0 151.0 123.0 133.0 19 12842217.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AK027588 CCDS12279.1 19p13.2 2011-11-24 ENSG00000123144 ENSG00000123144 79002.0 79002.0 28424.0 protein-coding gene gene with protein product """functional spliceosome-associated protein 18""" 12477932 Standard NM_024038 NM_024038 Approved MGC2803, fSAP18 uc002muu.3 Q9BQ61 ENST00000592273.1:c.346-335G>A 19.__UNKNOWN__:g.12842217C>T __UNKNOWN__ 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 27.1 4.799070 0.90538 . . ENSG00000123144 ENST00000242784 . . . 5.42 5.42 0.78866 . 0.000000 0.85682 D 0.000000 T 0.78591 0.4307 M 0.66297 2.02 0.37342 D 0.910419 D 0.89917 1.0 D 0.97110 1.0 T 0.82853 -0.0252 9 0.87932 D 0 -13.0597 18.0139 0.89232 0.0:1.0:0.0:0.0 . 122 Q9BQ61 CS043_HUMAN R 122 . ENSP00000242784:G122R G - 1 0 C19orf43 12703217 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.122000 0.77169 2.534000 0.85438 0.655000 0.94253 GGG C19orf43-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000450855.1 - ENST00000592273.1 Intron SNP PCPG-TCGA-QT-A5XM-Normal-SM-5EQEZ H2BFWT 158983 broad.mit.edu 37 X 103267771 103267771 + Silent SNP G G A rs139759218 TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chrX:103267771G>A ENST00000217926.5 - 1.0 488 c.462C>T c.(460-462)gcC>gcT p.A154A NM_001002916.3 NP_001002916.3 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 154.0 membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634) DNA binding (GO:0003677) breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16.0 CTTCGGACTCGGCGAGCTTGC 0.662 0 G 0,3831 0,0,1631,569 32.0 33.0 32.0 462 -2.4 0.0 X dbSNP_134 32.0 1,6720 0,1,2425,1869 no coding-synonymous H2BFWT NM_001002916.3 0,1,4056,2438 AA,AG,GG,G 0.0149,0.0,0.0095 154/176 103267771.0 1,10551 2200.0 4295.0 6495.0 SO:0001819 synonymous_variant BC038109 CCDS35362.1 Xq22.2 2011-01-27 ENSG00000123569 ENSG00000123569 158983.0 158983.0 """Histones / Replication-independent""" 27252.0 protein-coding gene gene with protein product 300507.0 12477932 Standard NM_001002916 NM_001002916 Approved uc004elr.3 Q7Z2G1 OTTHUMG00000022120 ENST00000217926.5:c.462C>T X.__UNKNOWN__:g.103267771G>A B1AK72|Q147W3 __UNKNOWN__ CCDS35362.1 H2BFWT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057756.2 - ENST00000217926.5 Silent SNP PCPG-TCGA-QT-A5XM-Normal-SM-5EQEZ DPY19L2P1 0 broad.mit.edu 37 7 35130010 35130010 + RNA SNP T T C TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr7:35130010T>C ENST00000436258.1 - 0.0 3359 Q6NXN4 D19P1_HUMAN DPY19L2 pseudogene 1 integral component of membrane (GO:0016021) transferase activity, transferring glycosyl groups (GO:0016757) TCCTACTTCTTTGGCAGATTT 0.289 0 BC066987 7p14.2 2014-03-18 2013-09-12 ENSG00000189212 ENSG00000189212 554236.0 554236.0 22305.0 pseudogene pseudogene """dpy-19-like 2 pseudogene 1 (C. elegans)""" Standard NR_002833 Approved uc031swy.1 Q6NXN4 OTTHUMG00000155026 ENST00000436258.1: 7.__UNKNOWN__:g.35130010T>C B4E2E3 __UNKNOWN__ DPY19L2P1-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000338113.1 - ENST00000436258.1 RNA SNP PCPG-TCGA-QT-A5XM-Normal-SM-5EQEZ EIF3L 51386 broad.mit.edu 37 22 38273774 38273774 + Missense_Mutation SNP C C T TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr22:38273774C>T ENST00000412331.2 + 11.0 1753 c.1171C>T c.(1171-1173)Cgg>Tgg p.R391W EIF3L_ENST00000406934.1_Missense_Mutation_p.R293W|EIF3L_ENST00000381683.6_Missense_Mutation_p.R343W NM_016091.3 NP_057175.1 eukaryotic translation initiation factor 3, subunit L kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15.0 CCTCCAGCTGCGGGAGAAATA 0.512 0 100.0 83.0 89.0 22 38273774.0 2203.0 4300.0 6503.0 SO:0001583 missense AF083243 CCDS13960.1, CCDS56230.1 22q 2012-12-20 2009-01-07 2009-01-07 ENSG00000100129 ENSG00000100129 51386.0 51386.0 18138.0 protein-coding gene gene with protein product """eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein""" EIF3S6IP, EIF3EIP 11042152, 11590142 Standard NM_016091 NM_016091 Approved HSPC021, HSPC025, EIF3S11 uc003auf.3 Q9Y262 OTTHUMG00000150671 ENST00000412331.2:c.1171C>T 22.__UNKNOWN__:g.38273774C>T ENSP00000416892:p.Arg391Trp __UNKNOWN__ CCDS13960.1 . . . . . . . . . . c 18.94 3.730614 0.69074 . . ENSG00000100129 ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934 T;T;T 0.47528 0.84;0.84;0.84 4.94 4.94 0.65067 . 0.000000 0.85682 D 0.000000 T 0.72187 0.3429 M 0.89414 3.03 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.80764 0.964;0.939;0.992;0.994 T 0.78001 -0.2375 10 0.87932 D 0 -22.6805 13.5371 0.61652 0.156:0.844:0.0:0.0 . 343;293;391;434 B4DYB2;B0QY90;Q9Y262;B0QY89 .;.;EIF3L_HUMAN;. W 391;434;343;358;293 ENSP00000416892:R391W;ENSP00000371099:R343W;ENSP00000384634:R293W ENSP00000262832:R358W R + 1 2 EIF3L 36603720 1.000000 0.71417 1.000000 0.80357 0.950000 0.60333 2.240000 0.43088 2.436000 0.82500 0.436000 0.28706 CGG EIF3L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000319551.2 + ENST00000412331.2 Missense_Mutation SNP PCPG-TCGA-QT-A5XM-Normal-SM-5EQEZ GIPC2 54810 broad.mit.edu 37 1 78546456 78546456 + Missense_Mutation SNP G G A TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr1:78546456G>A ENST00000370759.3 + 2.0 531 c.338G>A c.(337-339)gGa>gAa p.G113E GIPC2_ENST00000476882.1_3'UTR NM_017655.4 NP_060125.4 Q8TF65 GIPC2_HUMAN GIPC PDZ domain containing family, member 2 113.0 cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2) 20.0 CATGTGAAAGGAATCGAAAAA 0.343 0 122.0 125.0 124.0 1 78546456.0 2203.0 4299.0 6502.0 SO:0001583 missense AB073737 CCDS685.1 1p31.1 2010-05-28 ENSG00000137960 ENSG00000137960 54810.0 54810.0 18177.0 protein-coding gene gene with protein product """semaphorin cytoplasmic domain associated protein 2""" 11836570 Standard NM_017655 NM_017655 Approved FLJ20075, SEMCAP-2 uc001dik.3 Q8TF65 OTTHUMG00000041145 ENST00000370759.3:c.338G>A 1.__UNKNOWN__:g.78546456G>A ENSP00000359795:p.Gly113Glu Q8IYD3|Q9NXS7 __UNKNOWN__ CCDS685.1 . . . . . . . . . . G 21.3 4.134228 0.77662 . . ENSG00000137960 ENST00000370759 T 0.39229 1.09 6.16 6.16 0.99307 PDZ/DHR/GLGF (1); 0.000000 0.85682 D 0.000000 T 0.67411 0.2890 M 0.86178 2.8 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.69723 -0.5068 10 0.87932 D 0 -0.4158 20.8598 0.99761 0.0:0.0:1.0:0.0 . 113 Q8TF65 GIPC2_HUMAN E 113 ENSP00000359795:G113E ENSP00000359795:G113E G + 2 0 GIPC2 78319044 1.000000 0.71417 0.991000 0.47740 0.312000 0.27988 9.476000 0.97823 2.937000 0.99478 0.650000 0.86243 GGA GIPC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000098629.1 + ENST00000370759.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XM-Normal-SM-5EQEZ ANXA5 308 broad.mit.edu 37 4 122590847 122590847 + Missense_Mutation SNP T T G TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr4:122590847T>G ENST00000296511.5 - 12.0 1098 c.813A>C c.(811-813)agA>agC p.R271S ANXA5_ENST00000515017.1_Missense_Mutation_p.R171S|ANXA5_ENST00000501272.2_Missense_Mutation_p.R211S NM_001154.3 NP_001145.1 P08758 ANXA5_HUMAN annexin A5 271.0 blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543) NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1) 15.0 AAACCATGACTCTGATGAGGG 0.373 Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188) 0 104.0 104.0 104.0 4 122590847.0 2203.0 4300.0 6503.0 SO:0001583 missense U05770 CCDS3720.1 4q27 2008-02-05 ENSG00000164111 ENSG00000164111 308.0 308.0 """Annexins""" 543.0 protein-coding gene gene with protein product 131230.0 ENX2, ANX5 2960376 Standard NM_001154 NM_001154 Approved uc003idv.4 P08758 OTTHUMG00000133034 ENST00000296511.5:c.813A>C 4.__UNKNOWN__:g.122590847T>G ENSP00000296511:p.Arg271Ser D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9 __UNKNOWN__ CCDS3720.1 . . . . . . . . . . T 22.6 4.311300 0.81358 . . ENSG00000164111 ENST00000296511;ENST00000501272;ENST00000515017 T;T;T 0.20200 2.09;2.09;2.09 5.92 2.01 0.26516 Annexin repeat, conserved site (1); 0.000000 0.85682 D 0.000000 T 0.50034 0.1592 M 0.90922 3.16 0.58432 D 0.999999 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.87578 0.998;0.989;0.989 T 0.51919 -0.8644 10 0.87932 D 0 . 9.2519 0.37560 0.0:0.2231:0.0:0.7769 . 171;211;271 D6RBE9;D6RBL5;P08758 .;.;ANXA5_HUMAN S 271;211;171 ENSP00000296511:R271S;ENSP00000424106:R211S;ENSP00000424199:R171S ENSP00000296511:R271S R - 3 2 ANXA5 122810297 1.000000 0.71417 0.933000 0.37362 0.997000 0.91878 1.840000 0.39230 0.116000 0.18110 0.459000 0.35465 AGA ANXA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256636.2 - ENST00000296511.5 Missense_Mutation SNP PCPG-TCGA-QT-A5XM-Normal-SM-5EQEZ VARS2 57176 broad.mit.edu 37 6 30893361 30893361 + Silent SNP C C T TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr6:30893361C>T ENST00000321897.5 + 27.0 3458 c.2826C>T c.(2824-2826)ttC>ttT p.F942F VARS2_ENST00000542001.1_Silent_p.F802F|VARS2_ENST00000541562.1_Silent_p.F972F|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Silent_p.F942F Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 942.0 gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438) mitochondrion (GO:0005739) aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832) 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) 46.0 AGGGCCTCTTCGAGGCCTTCT 0.667 0 22.0 27.0 25.0 6 30893361.0 1486.0 2696.0 4182.0 SO:0001819 synonymous_variant AB067472 CCDS34387.1, CCDS54980.1 6p21.33 2012-10-26 2012-10-26 2007-02-23 ENSG00000137411 ENSG00000137411 57176.0 57176.0 6.1.1.9 """Aminoacyl tRNA synthetases / Class I""" 21642.0 protein-coding gene gene with protein product """valine tRNA ligase 2, mitochondrial""" 612802.0 """valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)""" VARS2L, VARSL 1898367, 11572484, 18400783 Standard NM_020442 NM_001167734 Approved DKFZP434L1435, KIAA1885, G7a uc011dmz.2 Q5ST30 OTTHUMG00000031263 ENST00000321897.5:c.2826C>T 6.__UNKNOWN__:g.30893361C>T A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7 __UNKNOWN__ CCDS34387.1 VARS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076566.2 + ENST00000321897.5 Silent SNP PCPG-TCGA-QT-A5XM-Normal-SM-5EQEZ ASNS 440 broad.mit.edu 37 7 97483918 97483918 + Silent SNP G G A TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr7:97483918G>A ENST00000422745.1 - 9.0 1277 c.1149C>T c.(1147-1149)cgC>cgT p.R383R ASNS_ENST00000455086.1_Silent_p.R321R|ASNS_ENST00000437628.1_Silent_p.R321R|ASNS_ENST00000394308.3_Silent_p.R404R|ASNS_ENST00000394309.3_Silent_p.R404R|ASNS_ENST00000444334.1_Silent_p.R383R|ASNS_ENST00000175506.4_Silent_p.R404R P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 404.0 Asparagine synthetase. activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037) ovary(1) 1.0 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-Glutamine(DB00130) TTCGATCTGCGCGGAGAACAT 0.388 Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738) 0 79.0 83.0 82.0 7 97483918.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant M27396 CCDS5652.1, CCDS55131.1, CCDS55132.1 7q21.3 2012-10-02 2010-05-07 ENSG00000070669 ENSG00000070669 440.0 440.0 6.3.5.4 753.0 protein-coding gene gene with protein product 108370.0 """asparagine synthetase""" Standard NM_001673, NM_183356 NM_001673 Approved uc003uov.4 P08243 OTTHUMG00000022892 ENST00000422745.1:c.1149C>T 7.__UNKNOWN__:g.97483918G>A A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0 __UNKNOWN__ CCDS55132.1 ASNS-002 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000333642.1 - ENST00000422745.1 Silent SNP PCPG-TCGA-QT-A5XM-Normal-SM-5EQEZ NEB 4703 broad.mit.edu 37 2 152419185 152419185 + Silent SNP C C T TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr2:152419185C>T ENST00000604864.1 - 118.0 18830 c.18831G>A c.(18829-18831)acG>acA p.T6277T NEB_ENST00000427231.2_Silent_p.T6277T|NEB_ENST00000397345.3_Silent_p.T6277T|NEB_ENST00000603639.1_Silent_p.T6277T|NEB_ENST00000409198.1_Silent_p.T4576T|NEB_ENST00000172853.10_Silent_p.T4576T P20929 NEBU_HUMAN nebulin 6286.0 muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018) structural constituent of muscle (GO:0008307) 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) 301.0 BRCA - Breast invasive adenocarcinoma(221;0.219) CCAGAAGAGACGTCCACTGGT 0.483 0 C ,, 1,4051 0,1,2025 127.0 120.0 122.0 18831,18831,13728 -11.5 0.0 2 122.0 0,8330 0,0,4165 no coding-synonymous,coding-synonymous,coding-synonymous NEB NM_001164507.1,NM_001164508.1,NM_004543.4 ,, 0,1,6190 TT,TC,CC 0.0,0.0247,0.0081 ,, 6277/8526,6277/8526,4576/6670 152419185.0 1,12381 2026.0 4165.0 6191.0 SO:0001819 synonymous_variant X83957 CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1 2q22 2014-09-17 ENSG00000183091 ENSG00000183091 4703.0 4703.0 7720.0 protein-coding gene gene with protein product """nemaline myopathy type 2""" 161650.0 NEM2 10051637, 9359044 Standard NM_004543 NM_001164507 Approved NEB177D uc010fnx.3 P20929 OTTHUMG00000153784 ENST00000604864.1:c.18831G>A 2.__UNKNOWN__:g.152419185C>T F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8 __UNKNOWN__ CCDS54408.1 NEB-018 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000469063.1 - ENST00000604864.1 Silent SNP PCPG-TCGA-QT-A5XM-Normal-SM-5EQEZ RET 5979 broad.mit.edu 37 10 43617416 43617416 + Missense_Mutation SNP T T C rs74799832 TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr10:43617416T>C ENST00000355710.3 + 16.0 2985 c.2753T>C c.(2752-2754)aTg>aCg p.M918T RET_ENST00000340058.5_Missense_Mutation_p.M918T NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 918.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. M -> T (in MEN2B and MTC; sporadic form; somatic mutation; also found in a patient with renal agenesis; dbSNP:rs74799832). {ECO:0000269|PubMed:18252215, ECO:0000269|PubMed:7906417, ECO:0000269|PubMed:7906866, ECO:0000269|PubMed:7911697, ECO:0000269|PubMed:8595427, ECO:0000269|PubMed:8807338}. activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657) endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) p.M918T(247) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607.0 Ovarian(717;0.0423) Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398) GTTAAATGGATGGCAATTGAA 0.443 1.0 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149) yes Dom yes Multiple endocrine neoplasia 2A/2B 10 10q11.2 5979.0 ret proto-oncogene yes """E, O""" 247 Substitution - Missense(247) thyroid(231)|adrenal_gland(16) GRCh37 CM941246 RET M rs74799832 262.0 244.0 250.0 10 43617416.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC BC004257 CCDS7200.1, CCDS53525.1 10q11.2 2014-09-17 2007-02-16 ENSG00000165731 ENSG00000165731 5979.0 5979.0 """Cadherins / Cadherin-related""" 9967.0 protein-coding gene gene with protein product """cadherin-related family member 16""" 164761.0 """multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1""" HSCR1, MEN2A, MTC1, MEN2B 2687772, 1611909 Standard NM_020975 NM_020975 Approved PTC, CDHF12, RET51, CDHR16 uc001jal.3 P07949 OTTHUMG00000018024 ENST00000355710.3:c.2753T>C 10.__UNKNOWN__:g.43617416T>C ENSP00000347942:p.Met918Thr A8K6Z2|Q15250|Q9BTB0|Q9H4A2 __UNKNOWN__ CCDS7200.1 . . . . . . . . . . T 23.5 4.427864 0.83667 . . ENSG00000165731 ENST00000355710;ENST00000340058 D;D 0.90504 -2.68;-2.68 5.43 5.43 0.79202 Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 D 0.93719 0.7993 L 0.52126 1.63 0.80722 A 1 D;D;D 0.89917 0.999;0.999;1.0 D;D;D 0.97110 0.999;1.0;1.0 D 0.94557 0.7759 9 0.87932 D 0 . 15.7766 0.78224 0.0:0.0:0.0:1.0 . 664;918;918 B4DGX8;P07949;P07949-2 .;RET_HUMAN;. T 918 ENSP00000347942:M918T;ENSP00000344798:M918T ENSP00000344798:M918T M + 2 0 RET 42937422 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 7.986000 0.88173 2.198000 0.70561 0.533000 0.62120 ATG RET-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000047694.2 + ENST00000355710.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XM-Normal-SM-5EQEZ DAZAP2 9802 broad.mit.edu 37 12 51636117 51636117 + Missense_Mutation SNP C C T TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr12:51636117C>T ENST00000412716.3 + 4.0 998 c.382C>T c.(382-384)Cca>Tca p.P128S DAZAP2_ENST00000549555.1_Missense_Mutation_p.S102F|DAZAP2_ENST00000449723.3_Missense_Mutation_p.P106S|DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000551313.1_Missense_Mutation_p.P68S|DAZAP2_ENST00000439799.2_Missense_Mutation_p.P46S|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000549732.2_Missense_Mutation_p.P96S Q15038 DAZP2_HUMAN DAZ associated protein 2 128.0 Pro-rich. cytoplasm (GO:0005737)|nucleus (GO:0005634) WW domain binding (GO:0050699) haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1) 6.0 CTTTCAGCCTCCACCTCCTGG 0.542 0 332.0 329.0 330.0 12 51636117.0 2203.0 4300.0 6503.0 SO:0001583 missense D31767 CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1 12q13.13 2012-04-04 ENSG00000183283 ENSG00000183283 9802.0 9802.0 2684.0 protein-coding gene gene with protein product 607431.0 10857750, 7584044 Standard NM_014764 NM_014764 Approved KIAA0058 uc010snd.2 Q15038 OTTHUMG00000169649 ENST00000412716.3:c.382C>T 12.__UNKNOWN__:g.51636117C>T ENSP00000394699:p.Pro128Ser A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62 __UNKNOWN__ CCDS8809.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 20.3|20.3 3.967881|3.967881 0.74131|0.74131 .|. .|. ENSG00000183283|ENSG00000183283 ENST00000412716;ENST00000439799;ENST00000549732;ENST00000449723;ENST00000551313|ENST00000549555 T;T;T;T;T|T 0.66815|0.51325 -0.23;-0.23;-0.23;-0.23;-0.23|0.71 5.44|5.44 5.44|5.44 0.79542|0.79542 .|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.59851|0.59851 0.2224|0.2224 M|M 0.77486|0.77486 2.375|2.375 0.80722|0.80722 D|D 1|1 D;D;D|D 0.76494|0.54207 0.999;0.991;0.997|0.965 D;D;D|P 0.87578|0.47981 0.998;0.96;0.992|0.563 T|T 0.66878|0.66878 -0.5812|-0.5812 10|9 0.41790|0.87932 T|D 0.15|0 -2.6768|-2.6768 18.4195|18.4195 0.90584|0.90584 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 96;46;128|102 C9JP84;C9JA96;Q15038|F8VU62 .;.;DAZP2_HUMAN|. S|F 128;46;96;106;68|102 ENSP00000394699:P128S;ENSP00000398804:P46S;ENSP00000446554:P96S;ENSP00000412812:P106S;ENSP00000447842:P68S|ENSP00000448051:S102F ENSP00000394699:P128S|ENSP00000448051:S102F P|S +|+ 1|2 0|0 DAZAP2|DAZAP2 49922384|49922384 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.996000|0.996000 0.88848|0.88848 6.969000|6.969000 0.76092|0.76092 2.726000|2.726000 0.93360|0.93360 0.655000|0.655000 0.94253|0.94253 CCA|TCC DAZAP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405259.2 + ENST00000412716.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XM-Normal-SM-5EQEZ LINGO1 84894 broad.mit.edu 37 15 77907211 77907211 + Silent SNP C C T TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr15:77907211C>T ENST00000355300.6 - 2.0 1212 c.1038G>A c.(1036-1038)caG>caA p.Q346Q LINGO1_ENST00000561030.1_Silent_p.Q340Q NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 346.0 central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31.0 GTGTGGTCAGCTGGTTGCCAG 0.637 0 59.0 63.0 61.0 15 77907211.0 2138.0 4244.0 6382.0 SO:0001819 synonymous_variant AK027500 CCDS45313.1, CCDS73766.1 15q24 2013-01-11 2007-02-01 2007-02-01 ENSG00000169783 84894.0 84894.0 """Immunoglobulin superfamily / I-set domain containing""" 21205.0 protein-coding gene gene with protein product 609791.0 """leucine rich repeat neuronal 6A""" LRRN6A 14686891 Standard NM_032808 XM_006720723 Approved FLJ14594, LERN1 uc002bct.1 Q96FE5 ENST00000355300.6:c.1038G>A 15.__UNKNOWN__:g.77907211C>T D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52 __UNKNOWN__ CCDS45313.1 LINGO1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000419546.1 - ENST00000355300.6 Silent SNP PCPG-TCGA-QT-A5XM-Normal-SM-5EQEZ ARFIP2 23647 bcgsc.ca 37 11 6501635 6501635 + Missense_Mutation SNP A A G TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr11:6501635A>G ENST00000254584.2 - 2.0 100 c.17T>C c.(16-18)cTa>cCa p.L6P ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000525235.1_Missense_Mutation_p.L6P|ARFIP2_ENST00000396777.3_Missense_Mutation_p.L6P|ARFIP2_ENST00000423813.2_Intron NM_012402.3 NP_036534.1 P53365 ARFP2_HUMAN ADP-ribosylation factor interacting protein 2 6.0 actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726) GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365) endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2) 15.0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGCCTTCCCTAGGATCCCGTC 0.552 Melanoma(119;796 1674 9049 20480 24794) 0 62.0 52.0 55.0 11 6501635.0 2201.0 4296.0 6497.0 SO:0001583 missense BC000392 CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1 11p15 2008-08-01 2008-08-01 ENSG00000132254 ENSG00000132254 23647.0 23647.0 17160.0 protein-coding gene gene with protein product """arfaptin 2""" 601638 8670882, 9038142 Standard NM_012402 NM_012402 Approved POR1 uc010ran.2 P53365 OTTHUMG00000133406 ENST00000254584.2:c.17T>C 11.__UNKNOWN__:g.6501635A>G ENSP00000254584:p.Leu6Pro B4DX86|B4E306|D3DQT5 __UNKNOWN__ CCDS7765.1 . . . . . . . . . . A 22.6 4.315637 0.81469 . . ENSG00000132254 ENST00000254584;ENST00000396777;ENST00000525235 T;T 0.80653 -1.4;-1.4 5.23 5.23 0.72850 . 0.133594 0.48286 D 0.000193 D 0.82646 0.5082 L 0.40543 1.245 0.80722 D 1 D;D;D 0.62365 0.991;0.989;0.971 P;P;P 0.58210 0.835;0.768;0.691 D 0.84572 0.0656 10 0.72032 D 0.01 2.2461 13.3495 0.60593 1.0:0.0:0.0:0.0 . 6;6;6 B4DUZ3;E9PPY7;P53365 .;.;ARFP2_HUMAN P 6 ENSP00000254584:L6P;ENSP00000379998:L6P ENSP00000254584:L6P L - 2 0 ARFIP2 6458211 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.630000 0.83225 1.979000 0.57680 0.459000 0.35465 CTA ARFIP2-008 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387044.1 - ENST00000254584.2 Missense_Mutation SNP PCPG-TCGA-QT-A5XM-Normal-SM-5EQEZ MERTK 10461 broad.mit.edu 37 2 112686863 112686863 + Silent SNP A A T TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr2:112686863A>T ENST00000295408.4 + 2.0 485 c.228A>T c.(226-228)ggA>ggT p.G76G MERTK_ENST00000421804.2_Silent_p.G76G|MERTK_ENST00000409780.1_Intron Q12866 MERTK_HUMAN MER proto-oncogene, tyrosine kinase 76.0 apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) 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) 46.0 CACATACAGGAAACGTAGCCA 0.507 0 109.0 88.0 95.0 2 112686863.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U08023 CCDS2094.1 2q14.1 2014-06-26 2014-06-26 ENSG00000153208 ENSG00000153208 10461.0 10461.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 7027.0 protein-coding gene gene with protein product 604705.0 """c-mer proto-oncogene tyrosine kinase""" 8086340, 10343112 Standard XM_005263565 Approved mer, RP38 uc002thk.1 Q12866 OTTHUMG00000131278 ENST00000295408.4:c.228A>T 2.__UNKNOWN__:g.112686863A>T Q9HBB4 __UNKNOWN__ CCDS2094.1 MERTK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254046.2 + ENST00000295408.4 Silent SNP PCPG-TCGA-QT-A5XN-Normal-SM-5EQF5 MATR3 9782 broad.mit.edu 37 5 138651823 138651823 + Missense_Mutation SNP C C T TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr5:138651823C>T ENST00000394800.2 + 9.0 1624 c.1075C>T c.(1075-1077)Cca>Tca p.P359S MATR3_ENST00000504203.1_Missense_Mutation_p.P21S|MATR3_ENST00000503811.1_Missense_Mutation_p.P71S|MATR3_ENST00000502499.1_Missense_Mutation_p.P21S|MATR3_ENST00000394805.3_Missense_Mutation_p.P359S|MATR3_ENST00000361059.2_Missense_Mutation_p.P359S|MATR3_ENST00000509990.1_Missense_Mutation_p.P359S|MATR3_ENST00000510056.1_Missense_Mutation_p.P359S|MATR3_ENST00000502929.1_Missense_Mutation_p.P359S P43243 MATR3_HUMAN matrin 3 359.0 cell death (GO:0008219) membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270) breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29.0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TCTGGGACCTCCACCTCCCTC 0.413 0 103.0 107.0 105.0 5 138651823.0 2203.0 4300.0 6503.0 SO:0001583 missense M63483 CCDS4210.1, CCDS54908.1, CCDS75316.1 5q31.3 2010-08-12 ENSG00000015479 ENSG00000015479 9782.0 9782.0 6912.0 protein-coding gene gene with protein product 164015.0 """myopathy, distal 2""" MPD2 2033075, 19344878 Standard NM_018834 NM_018834 Approved KIAA0723, MGC9105, VCPDM uc003ldx.3 P43243 OTTHUMG00000129229 ENST00000394800.2:c.1075C>T 5.__UNKNOWN__:g.138651823C>T ENSP00000378279:p.Pro359Ser B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27 __UNKNOWN__ . . . . . . . . . . C 24.8 4.571988 0.86542 . . ENSG00000015479 ENST00000509990;ENST00000506147;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000509644;ENST00000394805;ENST00000512876;ENST00000513678;ENST00000504045;ENST00000504311;ENST00000502499;ENST00000510056;ENST00000503811;ENST00000514528 T;T;T;T;T;T;T;T;T;T;T;T 0.77750 -0.73;-0.73;-0.27;-0.76;-0.76;-0.73;-1.11;-1.08;-1.12;-0.27;-0.75;-0.09 5.83 5.83 0.93111 . 0.115665 0.64402 D 0.000014 T 0.81833 0.4906 N 0.24115 0.695 0.54753 D 0.999983 D;D;D;D;D;D 0.89917 0.993;1.0;0.993;1.0;0.987;1.0 D;D;D;D;D;D 0.79108 0.968;0.992;0.968;0.992;0.953;0.992 T 0.80018 -0.1558 10 0.33940 T 0.23 -5.5704 20.1162 0.97934 0.0:1.0:0.0:0.0 . 71;359;71;359;359;359 B7ZAV5;D6REM6;B4DRS1;Q68D11;A8MXP9;P43243 .;.;.;.;.;MATR3_HUMAN S 359;59;359;21;359;359;21;359;21;21;359;21;21;359;71;95 ENSP00000423533:P359S;ENSP00000354346:P359S;ENSP00000421218:P21S;ENSP00000422319:P359S;ENSP00000378279:P359S;ENSP00000378284:P359S;ENSP00000425150:P21S;ENSP00000423290:P359S;ENSP00000422700:P21S;ENSP00000426030:P21S;ENSP00000426743:P359S;ENSP00000423587:P71S ENSP00000354346:P359S P + 1 0 MATR3 138679722 1.000000 0.71417 0.998000 0.56505 0.862000 0.49288 3.996000 0.57009 2.757000 0.94681 0.563000 0.77884 CCA MATR3-001 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000251323.1 + ENST00000394800.2 Missense_Mutation SNP PCPG-TCGA-QT-A5XN-Normal-SM-5EQF5 ESX1 80712 broad.mit.edu 37 X 103495314 103495314 + Silent SNP G G T TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chrX:103495314G>T ENST00000372588.4 - 4.0 899 c.816C>A c.(814-816)ccC>ccA p.P272P NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 272.0 15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x. labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726) cytoplasm (GO:0005737)|nucleus (GO:0005634) RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565) endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27.0 CAGGCGCcatgggtggcatag 0.687 Pancreas(200;1705 2227 25194 28471 45274) 0 64.0 63.0 63.0 X 103495314.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AL049631 CCDS14516.1 Xq22.2 2011-06-20 2007-07-11 2006-02-08 ENSG00000123576 ENSG00000123576 80712.0 80712.0 """Homeoboxes / PRD class""" 14865.0 protein-coding gene gene with protein product 300154.0 """extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)""" ESX1L 11374906, 17242862 Standard NM_153448 NM_153448 Approved ESXR1 uc004ely.3 Q8N693 OTTHUMG00000022125 ENST00000372588.4:c.816C>A X.__UNKNOWN__:g.103495314G>T B0QYU3|Q7Z6K7 __UNKNOWN__ CCDS14516.1 ESX1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057763.2 - ENST00000372588.4 Silent SNP PCPG-TCGA-QT-A5XN-Normal-SM-5EQF5 KLHDC3 116138 broad.mit.edu 37 6 42987098 42987098 + Missense_Mutation SNP A A G TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr6:42987098A>G ENST00000326974.4 + 10.0 1271 c.1076A>G c.(1075-1077)gAt>gGt p.D359G KLHDC3_ENST00000332245.8_Missense_Mutation_p.D300G|KLHDC3_ENST00000244670.8_Missense_Mutation_p.D225G NM_057161.3 NP_476502.1 Q9BQ90 KLDC3_HUMAN kelch domain containing 3 359.0 activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790) chromatin binding (GO:0003682) cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9.0 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TTGCCTCATGATATCAGGTAC 0.498 0 227.0 222.0 223.0 6 42987098.0 2203.0 4300.0 6503.0 SO:0001583 missense AB055925 CCDS4880.1 6p21.1 2003-06-12 ENSG00000124702 ENSG00000124702 116138.0 116138.0 20704.0 protein-coding gene gene with protein product 611248.0 12444059, 12606021 Standard NM_057161 NM_057161 Approved PEAS, hPeas, dJ20C7.3 uc003otl.3 Q9BQ90 OTTHUMG00000014714 ENST00000326974.4:c.1076A>G 6.__UNKNOWN__:g.42987098A>G ENSP00000313995:p.Asp359Gly A8K2W9 __UNKNOWN__ CCDS4880.1 . . . . . . . . . . A 13.84 2.355806 0.41700 . . ENSG00000124702 ENST00000326974;ENST00000432243;ENST00000244670;ENST00000394096;ENST00000426116;ENST00000332245 T;T;T 0.17213 3.1;2.29;3.1 5.17 5.17 0.71159 . 0.642296 0.13832 N 0.359658 T 0.11410 0.0278 L 0.51422 1.61 0.50313 D 0.999863 B;P;P;P 0.40476 0.074;0.534;0.718;0.546 B;B;B;B 0.38500 0.013;0.133;0.275;0.101 T 0.03898 -1.0994 10 0.59425 D 0.04 -8.3896 15.3285 0.74186 1.0:0.0:0.0:0.0 . 359;300;225;359 E7ENU0;E7ERR0;F8W6A4;Q9BQ90 .;.;.;KLDC3_HUMAN G 359;359;225;359;332;300 ENSP00000313995:D359G;ENSP00000244670:D225G;ENSP00000331562:D300G ENSP00000244670:D225G D + 2 0 KLHDC3 43095076 1.000000 0.71417 1.000000 0.80357 0.465000 0.32709 7.350000 0.79385 2.087000 0.62958 0.260000 0.18958 GAT KLHDC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040570.1 + ENST00000326974.4 Missense_Mutation SNP PCPG-TCGA-QT-A5XN-Normal-SM-5EQF5 NLRP4 147945 broad.mit.edu 37 19 56369263 56369263 + Silent SNP G G A TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr19:56369263G>A ENST00000301295.6 + 3.0 926 c.504G>A c.(502-504)ctG>ctA p.L168L NLRP4_ENST00000587891.1_Silent_p.L93L|NLRP4_ENST00000346986.5_Silent_p.L168L NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 168.0 NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}. inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42.0 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TGATGAAGCTGATGATGGCCT 0.502 0 127.0 116.0 119.0 19 56369263.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF479747 CCDS12936.1 19q13.43 2009-03-27 2006-12-08 2006-12-08 147945.0 147945.0 """Nucleotide-binding domain and leucine rich repeat containing""" 22943.0 protein-coding gene gene with protein product """nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58""" 609645.0 """NACHT, leucine rich repeat and PYD containing 4""" NALP4 12563287, 12019269 Standard NM_134444 NM_134444 Approved PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58 uc002qmd.4 Q96MN2 ENST00000301295.6:c.504G>A 19.__UNKNOWN__:g.56369263G>A Q86W87|Q96AY6 __UNKNOWN__ CCDS12936.1 NLRP4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457367.2 + ENST00000301295.6 Silent SNP PCPG-TCGA-QT-A5XN-Normal-SM-5EQF5 OTOP3 347741 broad.mit.edu 37 17 72937759 72937759 + Silent SNP C C T TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr17:72937759C>T ENST00000328801.4 + 2.0 345 c.345C>T c.(343-345)gcC>gcT p.A115A NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 115.0 integral component of membrane (GO:0016021) metal ion binding (GO:0046872) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23.0 all_lung(278;0.151)|Lung NSC(278;0.185) ACAAGGTGGCCGTCACTCTGG 0.602 0 80.0 65.0 70.0 17 72937759.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BK000568 CCDS11709.1 17q25 2004-01-19 ENSG00000182938 347741.0 347741.0 19658.0 protein-coding gene gene with protein product 607828.0 12651873 Standard NM_178233 NM_178233 Approved uc010wrr.3 Q7RTS5 ENST00000328801.4:c.345C>T 17.__UNKNOWN__:g.72937759C>T __UNKNOWN__ CCDS11709.1 OTOP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000445308.1 + ENST00000328801.4 Silent SNP PCPG-TCGA-QT-A5XN-Normal-SM-5EQF5 OBSCN 84033 broad.mit.edu 37 1 228547476 228547476 + Missense_Mutation SNP G G A TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr1:228547476G>A ENST00000570156.2 + 91.0 21606 OBSCN_ENST00000366709.4_Missense_Mutation_p.G3414S|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Missense_Mutation_p.G6295S NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018) ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432) 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) 223.0 Prostate(94;0.0405) GGCAGAACCAGGCCAGAAGCC 0.706 0 12.0 14.0 14.0 1 228547476.0 2013.0 4180.0 6193.0 SO:0001627 intron_variant AJ002535 CCDS1570.2, CCDS58065.1, CCDS59204.1 1q42 2014-09-17 ENSG00000154358 ENSG00000154358 84033.0 84033.0 """Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 15719.0 protein-coding gene gene with protein product 608616.0 11448995, 11814696 Standard NM_052843 NM_001098623 Approved KIAA1556, UNC89, KIAA1639, ARHGEF30 uc001hsq.2 Q5VST9 OTTHUMG00000039772 ENST00000570156.2:c.21533-2801G>A 1.__UNKNOWN__:g.228547476G>A Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6 __UNKNOWN__ CCDS59204.1 . . . . . . . . . . G 11.49 1.654675 0.29425 . . ENSG00000154358 ENST00000284548;ENST00000366709 T;T 0.55052 0.54;0.69 4.56 4.56 0.56223 . . . . . T 0.44623 0.1302 M 0.63428 1.95 0.09310 N 1 B 0.33583 0.418 B 0.30855 0.121 T 0.35674 -0.9779 9 0.09084 T 0.74 . 10.3689 0.44042 0.0904:0.0:0.9096:0.0 . 6295 Q5VST9-3 . S 6295;3414 ENSP00000284548:G6295S;ENSP00000355670:G3414S ENSP00000284548:G6295S G + 1 0 OBSCN 226614099 0.001000 0.12720 0.093000 0.20910 0.065000 0.16274 0.663000 0.25053 2.379000 0.81126 0.556000 0.70494 GGC OBSCN-011 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000421354.3 + ENST00000570156.2 Intron SNP PCPG-TCGA-QT-A5XN-Normal-SM-5EQF5 ZACN 353174 broad.mit.edu 37 17 74075788 74075788 + Missense_Mutation SNP C C G TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr17:74075788C>G ENST00000334586.5 + 3.0 311 c.228C>G c.(226-228)atC>atG p.I76M ZACN_ENST00000392503.2_Intron NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 76.0 ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11.0 CCCAGGACATCCTGCGATACA 0.582 0 118.0 94.0 102.0 17 74075788.0 2203.0 4300.0 6503.0 SO:0001583 missense AK122638 CCDS11740.2 17q25.3 2012-01-18 2008-04-17 2008-04-17 ENSG00000186919 ENSG00000186919 353174.0 353174.0 """Ligand-gated ion channels / Zinc activated channels""" 29504.0 protein-coding gene gene with protein product 610935.0 """ligand-gated ion channel, zinc activated 1""" LGICZ1 12381728, 16083862 Standard NM_180990 NM_180990 Approved LGICZ, L2, ZAC, ZAC1 uc002jqn.2 Q401N2 OTTHUMG00000157186 ENST00000334586.5:c.228C>G 17.__UNKNOWN__:g.74075788C>G ENSP00000334854:p.Ile76Met Q2TB29|Q6ZWK3|Q86YW4 __UNKNOWN__ CCDS11740.2 . . . . . . . . . . C 18.29 3.591650 0.66219 . . ENSG00000186919 ENST00000334586 T 0.77620 -1.11 4.35 4.35 0.52113 Neurotransmitter-gated ion-channel ligand-binding (3); 0.423554 0.21207 N 0.078376 D 0.85133 0.5627 M 0.68317 2.08 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 D 0.83606 0.0131 10 0.35671 T 0.21 -35.09 12.2419 0.54546 0.0:1.0:0.0:0.0 . 76 Q401N2 ZACN_HUMAN M 76 ENSP00000334854:I76M ENSP00000334854:I76M I + 3 3 ZACN 71587383 0.993000 0.37304 0.998000 0.56505 0.958000 0.62258 2.321000 0.43805 2.251000 0.74343 0.462000 0.41574 ATC ZACN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347827.2 + ENST00000334586.5 Missense_Mutation SNP PCPG-TCGA-QT-A5XN-Normal-SM-5EQF5 UBE2U 148581 broad.mit.edu 37 1 64676515 64676515 + Missense_Mutation SNP C C T TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr1:64676515C>T ENST00000371076.3 + 4.0 576 c.332C>T c.(331-333)gCc>gTc p.A111V NM_152489.1 NP_689702.1 Q5VVX9 UBE2U_HUMAN ubiquitin-conjugating enzyme E2U (putative) 111.0 protein ubiquitination (GO:0016567) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524) large_intestine(3)|lung(2)|skin(1) 6.0 ATCTTACTTGCCCTACAGGTA 0.333 0 76.0 71.0 72.0 1 64676515.0 2203.0 4300.0 6503.0 SO:0001583 missense BC029895 CCDS627.1 1p31.3 2008-02-05 ENSG00000177414 ENSG00000177414 148581.0 148581.0 """Ubiquitin-conjugating enzymes E2""" 28559.0 protein-coding gene gene with protein product 12477932 Standard NM_152489 NM_152489 Approved MGC35130 uc001dbn.1 Q5VVX9 OTTHUMG00000009023 ENST00000371076.3:c.332C>T 1.__UNKNOWN__:g.64676515C>T ENSP00000360116:p.Ala111Val Q8N1D4 __UNKNOWN__ CCDS627.1 . . . . . . . . . . C 11.16 1.557137 0.27827 . . ENSG00000177414 ENST00000371077;ENST00000371076 T;T 0.38887 1.11;1.11 5.63 2.58 0.30949 Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2); 1.371570 0.04745 N 0.423578 T 0.22820 0.0551 L 0.61218 1.895 0.09310 N 1 D 0.61080 0.989 B 0.39738 0.308 T 0.30707 -0.9969 10 0.87932 D 0 . 8.2454 0.31684 0.3285:0.5226:0.1489:0.0 . 111 Q5VVX9 UBE2U_HUMAN V 111 ENSP00000360117:A111V;ENSP00000360116:A111V ENSP00000360116:A111V A + 2 0 UBE2U 64449103 0.000000 0.05858 0.232000 0.24009 0.418000 0.31294 0.229000 0.17833 0.248000 0.21435 0.655000 0.94253 GCC UBE2U-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000025005.1 + ENST00000371076.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XN-Normal-SM-5EQF5 USP34 9736 broad.mit.edu 37 2 61486850 61486850 + Missense_Mutation SNP A A G TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr2:61486850A>G ENST00000398571.2 - 44.0 5916 c.5840T>C c.(5839-5841)tTa>tCa p.L1947S NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1947.0 USP. positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055) cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) 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) 138.0 Epithelial(17;0.229) ACATACCATTAAATATGTAAA 0.408 0 70.0 66.0 67.0 2 61486850.0 1866.0 4095.0 5961.0 SO:0001583 missense AB011142 CCDS42686.1 2p16.1-p15 2005-08-08 2005-08-08 ENSG00000115464 ENSG00000115464 9736.0 9736.0 """Ubiquitin-specific peptidases""" 20066.0 protein-coding gene gene with protein product 615295.0 """ubiquitin specific protease 34""" 12838346 Standard NM_014709 Approved KIAA0570, KIAA0729 uc002sbe.3 Q70CQ2 OTTHUMG00000152265 ENST00000398571.2:c.5840T>C 2.__UNKNOWN__:g.61486850A>G ENSP00000381577:p.Leu1947Ser A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1 __UNKNOWN__ CCDS42686.1 . . . . . . . . . . A 25.2 4.615733 0.87359 . . ENSG00000115464 ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734 T;T 0.09073 3.02;3.02 5.34 5.34 0.76211 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);Armadillo-type fold (1); 0.000000 0.64402 D 0.000001 T 0.37892 0.1020 M 0.91459 3.21 0.58432 D 0.99999 D 0.76494 0.999 D 0.91635 0.999 T 0.48906 -0.8993 10 0.87932 D 0 . 15.6055 0.76668 1.0:0.0:0.0:0.0 . 1947 Q70CQ2 UBP34_HUMAN S 1795;1795;1947;225 ENSP00000381577:L1947S;ENSP00000410559:L225S ENSP00000263989:L1795S L - 2 0 USP34 61340354 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 6.996000 0.76263 2.152000 0.67230 0.533000 0.62120 TTA USP34-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000325650.4 - ENST00000398571.2 Missense_Mutation SNP PCPG-TCGA-QT-A5XN-Normal-SM-5EQF5 SLC26A9 115019 broad.mit.edu 37 1 205884502 205884502 + Missense_Mutation SNP T T G TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr1:205884502T>G ENST00000367135.3 - 21.0 2472 c.2359A>C c.(2359-2361)Acc>Ccc p.T787P SLC26A9_ENST00000340781.4_Missense_Mutation_p.T787P|SLC26A9_ENST00000367134.2_Missense_Mutation_p.T787P NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 787.0 anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271) NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52.0 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GCGGTCAGGGTCTCTGCGTGA 0.592 0 107.0 98.0 101.0 1 205884502.0 2203.0 4300.0 6503.0 SO:0001583 missense AF331525 CCDS30989.1, CCDS30990.1 1q32.1 2013-07-18 2013-07-18 ENSG00000174502 ENSG00000174502 115019.0 115019.0 """Solute carriers""" 14469.0 protein-coding gene gene with protein product """anion transporter/exchanger-9""" 608481.0 """solute carrier family 26, member 9""" 11834742 Standard NM_052934 NM_134325 Approved uc001hdp.3 Q7LBE3 OTTHUMG00000036001 ENST00000367135.3:c.2359A>C 1.__UNKNOWN__:g.205884502T>G ENSP00000356103:p.Thr787Pro A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0 __UNKNOWN__ CCDS30990.1 . . . . . . . . . . T 24.9 4.577974 0.86645 . . ENSG00000174502 ENST00000340781;ENST00000367135;ENST00000367134 D;D;D 0.93763 -3.28;-3.19;-3.28 5.44 5.44 0.79542 . 0.171322 0.40302 N 0.001126 D 0.93086 0.7799 L 0.29908 0.895 0.41389 D 0.9876 D;P 0.64830 0.994;0.917 P;B 0.59288 0.855;0.353 D 0.93670 0.6989 10 0.52906 T 0.07 . 14.3224 0.66496 0.0:0.0:0.0:1.0 . 787;787 Q7LBE3;B1AVM8 S26A9_HUMAN;. P 787 ENSP00000341682:T787P;ENSP00000356103:T787P;ENSP00000356102:T787P ENSP00000341682:T787P T - 1 0 SLC26A9 204151125 1.000000 0.71417 1.000000 0.80357 0.962000 0.63368 2.686000 0.46968 2.062000 0.61559 0.379000 0.24179 ACC SLC26A9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087742.1 - ENST00000367135.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XN-Normal-SM-5EQF5 SCN5A 6331 broad.mit.edu 37 3 38639331 38639331 + Silent SNP C C T TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr3:38639331C>T ENST00000455624.2 - 13.0 2175 c.2151G>A c.(2149-2151)ccG>ccA p.P717P SCN5A_ENST00000414099.2_Silent_p.P717P|SCN5A_ENST00000423572.2_Silent_p.P717P|SCN5A_ENST00000443581.1_Silent_p.P717P|SCN5A_ENST00000413689.1_Silent_p.P717P|SCN5A_ENST00000451551.2_Silent_p.P717P|SCN5A_ENST00000425664.1_Silent_p.P717P|SCN5A_ENST00000450102.2_Silent_p.P717P|SCN5A_ENST00000333535.4_Silent_p.P717P|SCN5A_ENST00000449557.2_Silent_p.P717P Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 717.0 AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005) caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518) ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006) NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107.0 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909) GGTCAGTAAACGGGTCCATGA 0.547 C 1.0 0.0005 2184.0 0.0017 0.9998 , , 0.0003 0.0005 0.8415 LOWCOV,EXOME 0.0009 SNP 0 154.0 157.0 156.0 3 38639331.0 2153.0 4265.0 6418.0 SO:0001819 synonymous_variant AJ310893 CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1 3p21 2014-09-17 2007-01-23 ENSG00000183873 ENSG00000183873 6331.0 6331.0 """Sodium channels"", ""Voltage-gated ion channels / Sodium channels""" 10593.0 protein-coding gene gene with protein product """long QT syndrome 3""" 600163.0 """sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)""" CMD1E 7842012, 15466643, 16382098 Standard NM_198056 NM_198056 Approved Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD uc021wvl.1 Q14524 OTTHUMG00000156166 ENST00000455624.2:c.2151G>A 3.__UNKNOWN__:g.38639331C>T A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69 __UNKNOWN__ CCDS54570.1 SCN5A-002 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000343215.2 - ENST00000455624.2 Silent SNP PCPG-TCGA-QT-A5XN-Normal-SM-5EQF5 MYOM2 9172 broad.mit.edu 37 8 2046698 2046698 + Silent SNP G G A TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr8:2046698G>A ENST00000262113.4 + 19.0 2466 c.2325G>A c.(2323-2325)ttG>ttA p.L775L MYOM2_ENST00000523438.1_Silent_p.L200L NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 775.0 Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}. muscle contraction (GO:0006936) M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982) structural constituent of muscle (GO:0008307) 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) 104.0 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) TGGACGGCTTGACGGAAGGCT 0.507 0 41.0 39.0 40.0 8 2046698.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS5957.1 8p23.3 2014-06-06 2012-10-17 ENSG00000036448 ENSG00000036448 9172.0 9172.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 7614.0 protein-coding gene gene with protein product 603509.0 """myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa""" Standard NM_003970 XM_006716237 Approved uc003wpx.4 P54296 OTTHUMG00000129175 ENST00000262113.4:c.2325G>A 8.__UNKNOWN__:g.2046698G>A Q7Z3Y2 __UNKNOWN__ CCDS5957.1 MYOM2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251249.1 + ENST00000262113.4 Silent SNP PCPG-TCGA-QT-A5XN-Normal-SM-5EQF5 BOD1L1 259282 broad.mit.edu 37 4 13601677 13601677 + Missense_Mutation SNP G G C TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr4:13601677G>C ENST00000040738.5 - 10.0 6982 c.6847C>G c.(6847-6849)Cca>Gca p.P2283A NM_148894.2 NP_683692.2 Q8NFC6 BD1L1_HUMAN biorientation of chromosomes in cell division 1-like 1 2283.0 nucleus (GO:0005634) DNA binding (GO:0003677) TCTTCCGCTGGTGTGACTGAG 0.562 0 63.0 55.0 57.0 4 13601677.0 2203.0 4300.0 6503.0 SO:0001583 missense AF528529 CCDS3411.2 4p16.1 2012-04-10 2012-04-10 2012-04-10 ENSG00000038219 ENSG00000038219 259282.0 259282.0 31792.0 protein-coding gene gene with protein product """family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like""" FAM44A, BOD1L Standard NM_148894 XM_005248150 Approved FLJ33215, KIAA1327 uc003gmz.1 Q8NFC6 OTTHUMG00000090659 ENST00000040738.5:c.6847C>G 4.__UNKNOWN__:g.13601677G>C ENSP00000040738:p.Pro2283Ala Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9 __UNKNOWN__ CCDS3411.2 . . . . . . . . . . G 5.041 0.193221 0.09599 . . ENSG00000038219 ENST00000040738 T 0.06608 3.28 5.24 2.07 0.26955 . 0.848596 0.09952 N 0.734522 T 0.04634 0.0126 L 0.34521 1.04 0.09310 N 1 B 0.32918 0.39 B 0.27380 0.079 T 0.44329 -0.9335 10 0.18276 T 0.48 -4.4295 6.8818 0.24177 0.0:0.2906:0.3408:0.3686 . 2283 Q8NFC6 BOD1L_HUMAN A 2283 ENSP00000040738:P2283A ENSP00000040738:P2283A P - 1 0 BOD1L 13210775 0.000000 0.05858 0.000000 0.03702 0.007000 0.05969 0.349000 0.20055 0.548000 0.28955 -0.315000 0.08773 CCA BOD1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207321.1 - ENST00000040738.5 Missense_Mutation SNP PCPG-TCGA-QT-A5XN-Normal-SM-5EQF5 UCKL1 54963 broad.mit.edu 37 20 62571398 62571398 + Silent SNP G G A TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr20:62571398G>A ENST00000369908.5 - 15.0 1832 c.1533C>T c.(1531-1533)ggC>ggT p.G511G UCKL1_ENST00000354216.6_Silent_p.G526G|UCKL1_ENST00000369892.3_Silent_p.G526G|UCKL1_ENST00000358711.3_3'UTR NM_001193379.1 NP_001180308.1 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 526.0 CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|uridine kinase activity (GO:0004849) endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8.0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) AGTAGCGGTCGCCAAAGTTCC 0.682 0 25.0 24.0 24.0 20 62571398.0 2192.0 4290.0 6482.0 SO:0001819 synonymous_variant AK000524 CCDS13547.1, CCDS54479.1 20q13.33 2012-09-20 2004-07-13 2004-07-13 ENSG00000198276 ENSG00000198276 54963.0 54963.0 15938.0 protein-coding gene gene with protein product 610866.0 """uridine kinase-like 1""" URKL1 Standard NM_017859 NM_017859 Approved FLJ20517 uc010gkn.3 Q9NWZ5 OTTHUMG00000033003 ENST00000369908.5:c.1533C>T 20.__UNKNOWN__:g.62571398G>A B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2 __UNKNOWN__ CCDS54479.1 UCKL1-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000470249.1 - ENST00000369908.5 Silent SNP PCPG-TCGA-QT-A5XN-Normal-SM-5EQF5 REPIN1 29803 broad.mit.edu 37 7 150066802 150066802 + Translation_Start_Site SNP T T A TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr7:150066802T>A ENST00000518462.1 + 1.0 291 REPIN1_ENST00000489432.2_Start_Codon_SNP_p.M1K|REPIN1_ENST00000482680.1_Start_Codon_SNP_p.M1K|REPIN1_ENST00000518514.1_Intron|REPIN1_ENST00000479668.1_Start_Codon_SNP_p.M1K|REPIN1_ENST00000466559.1_Intron|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_5'UTR|REPIN1_ENST00000444957.1_Intron|REPIN1_ENST00000397281.2_5'UTR Q9BWE0 REPI1_HUMAN replication initiator 1 DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273) cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14.0 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) AGCTCTGCCATGGGGATAGGG 0.587 0 56.0 62.0 60.0 7 150066802.0 1943.0 4136.0 6079.0 SO:0001627 intron_variant AF201303 CCDS43677.1, CCDS47745.1 7q36.1 2013-01-08 2003-08-07 2003-08-08 29803.0 29803.0 """Zinc fingers, C2H2-type""" 17922.0 protein-coding gene gene with protein product """replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)""" """zinc finger protein 464 (RIP60)""" ZNF464 10606657 Standard NM_014374 NM_013400 Approved RIP60, AP4, H_DJ0584D14.12, Zfp464 uc010lpr.1 Q9BWE0 ENST00000518462.1:c.291+43T>A 7.__UNKNOWN__:g.150066802T>A C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5 __UNKNOWN__ . . . . . . . . . . T 17.09 3.299878 0.60195 . . ENSG00000214022 ENST00000479668;ENST00000489432;ENST00000482680;ENST00000461637 T 0.07908 3.15 3.93 2.78 0.32641 . . . . . T 0.07143 0.0181 . . . 0.80722 D 1 B 0.25105 0.118 B 0.19391 0.025 T 0.18713 -1.0328 8 0.87932 D 0 . 5.9846 0.19426 0.0:0.1162:0.0:0.8838 . 1 C9J3L7 . K 1 ENSP00000417291:M1K ENSP00000417756:M1K M + 2 0 REPIN1 149697735 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 0.870000 0.28010 0.874000 0.35823 0.482000 0.46254 ATG REPIN1-019 PUTATIVE basic|exp_conf processed_transcript protein_coding OTTHUMT00000376939.1 + ENST00000518462.1 Intron SNP PCPG-TCGA-QT-A5XN-Normal-SM-5EQF5 NBN 4683 broad.mit.edu 37 8 90982714 90982714 + Frame_Shift_Del DEL T T - TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr8:90982714delT ENST00000265433.3 - 7.0 928 c.774delA c.(772-774)gaafs p.E259fs NBN_ENST00000409330.1_Frame_Shift_Del_p.E177fs NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin 259.0 Interaction with MTOR, MAPKAP1 and RICTOR.|Mediates interaction with SP100. {ECO:0000250}. blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723) Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861) damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134) autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27.0 BRCA - Breast invasive adenocarcinoma(11;0.0344) AATTATGTTCTTCTTCATTCT 0.378 Homologous recombination 0 100.0 98.0 98.0 8 90982714.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant AF058696 CCDS6249.1 8q21-q24 2014-09-17 2005-06-02 2005-06-02 ENSG00000104320 ENSG00000104320 4683.0 4683.0 7652.0 protein-coding gene gene with protein product 602667.0 """Nijmegen breakage syndrome 1 (nibrin)""" NBS, NBS1 9590181, 9590180 Standard NM_001024688 XM_005250923 Approved ATV, AT-V2, AT-V1 uc003yej.1 O60934 OTTHUMG00000153546 ENST00000265433.3:c.774delA 8.__UNKNOWN__:g.90982714delT ENSP00000265433:p.Glu259fs B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2 __UNKNOWN__ CCDS6249.1 NBN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000331583.3 - ENST00000265433.3 Frame_Shift_Del DEL PCPG-TCGA-QT-A5XN-Normal-SM-5EQF5 SOWAHB 345079 broad.mit.edu 37 4 77818089 77818090 + In_Frame_Ins INS - - GCT rs140725545 by1000genomes TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr4:77818089_77818090insGCT ENST00000334306.2 - 1.0 912_913 c.913_914insAGC c.(913-915)cgc>cAGCgc p.304_305insQ NM_001029870.1 NP_001025041.1 A6NEL2 SWAHB_HUMAN sosondowah ankyrin repeat domain family member B 304.0 Poly-Gln. CTCTCGAGTGCGCTGCTGCTGC 0.713 C 26.0 0.01 0.05 0.01 2184.0 0.996 , , 0.0006 0.0134 0.8722 0.0003 INDEL 0 SO:0001652 inframe_insertion CCDS34017.1 4q21.1 2013-01-10 2012-01-12 2012-01-12 ENSG00000186212 ENSG00000186212 345079.0 345079.0 """Ankyrin repeat domain containing""" 32958.0 protein-coding gene gene with protein product """ankyrin repeat domain 56""" ANKRD56 22234889 Standard NM_001029870 NM_001029870 Approved uc003hki.3 A6NEL2 OTTHUMG00000160876 ENST00000334306.2:c.911_913dupAGC 4.__UNKNOWN__:g.77818096_77818098dupGCT ENSP00000334879:p.Gln304_Gln304dup B2RP29 __UNKNOWN__ CCDS34017.1 SOWAHB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000362762.1 - ENST00000334306.2 In_Frame_Ins INS PCPG-TCGA-QT-A5XN-Normal-SM-5EQF5 ANKRD36 375248 broad.mit.edu 37 2 97856721 97856721 + Missense_Mutation SNP C C A TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr2:97856721C>A ENST00000461153.2 + 35.0 2496 c.2252C>A c.(2251-2253)tCt>tAt p.S751Y ANKRD36_ENST00000420699.2_Missense_Mutation_p.S751Y A6QL64 AN36A_HUMAN ankyrin repeat domain 36 751.0 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23.0 TCAGTGTCTTCTCAGAAACAA 0.299 0 179.0 140.0 152.0 2 97856721.0 692.0 1590.0 2282.0 SO:0001583 missense BC046186 CCDS54379.1 2q11.2 2013-09-24 ENSG00000135976 ENSG00000135976 375248.0 375248.0 """Ankyrin repeat domain containing""" 24079.0 protein-coding gene gene with protein product 12975309 Standard NM_001164315 Approved UNQ2430 uc010yva.2 A6QL64 OTTHUMG00000155256 ENST00000461153.2:c.2252C>A 2.__UNKNOWN__:g.97856721C>A ENSP00000419530:p.Ser751Tyr B4E3I8|Q6UX02|Q86X62|Q9HCD1 __UNKNOWN__ CCDS54379.1 . . . . . . . . . . . 9.609 1.130808 0.21041 . . ENSG00000135976 ENST00000461153;ENST00000420699;ENST00000461694 T;T 0.77750 -1.12;-1.12 0.926 -0.0361 0.13890 . . . . . T 0.62429 0.2427 L 0.42245 1.32 0.09310 N 0.999998 P 0.50156 0.932 B 0.37780 0.258 T 0.55742 -0.8093 9 0.54805 T 0.06 . 3.3133 0.07024 0.0:0.6894:0.0:0.3106 . 751 A6QL64 AN36A_HUMAN Y 751;751;113 ENSP00000419530:S751Y;ENSP00000391950:S751Y ENSP00000391950:S751Y S + 2 0 ANKRD36 97220448 0.972000 0.33761 0.094000 0.20943 0.233000 0.25261 0.855000 0.27805 -0.013000 0.14199 0.175000 0.17021 TCT ANKRD36-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000339154.5 + ENST00000461153.2 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 EGLN1 54583 broad.mit.edu 37 1 231556829 231556829 + Missense_Mutation SNP A A G TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr1:231556829A>G ENST00000366641.3 - 1.0 3961 c.806T>C c.(805-807)aTt>aCt p.I269T NM_022051.2 NP_071334.1 egl-9 family hypoxia-inducible factor 1 breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 16.0 Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244) GAGCAGCCCAATGGTTTCGCA 0.577 0 106.0 99.0 101.0 1 231556829.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ310543 CCDS1595.1 1q42.1 2013-08-21 2013-08-21 2001-08-24 ENSG00000135766 ENSG00000135766 54583.0 54583.0 """Zinc fingers, MYND-type""" 1232.0 protein-coding gene gene with protein product """HIF prolyl hydroxylase 2""" 606425.0 """EGL nine (C.elegans) homolog 1"", ""egl nine homolog 1 (C. elegans)""" C1orf12 11056053 Standard NM_022051 NM_022051 Approved SM-20, PHD2, ZMYND6, HIFPH2 uc001huv.2 Q9GZT9 OTTHUMG00000038027 ENST00000366641.3:c.806T>C 1.__UNKNOWN__:g.231556829A>G ENSP00000355601:p.Ile269Thr __UNKNOWN__ CCDS1595.1 . . . . . . . . . . A 28.6 4.937891 0.92526 . . ENSG00000135766 ENST00000366641 D 0.87966 -2.32 4.94 4.94 0.65067 Prolyl 4-hydroxylase, alpha subunit (1); 0.000000 0.85682 D 0.000000 D 0.93913 0.8052 M 0.87971 2.92 0.80722 D 1 D 0.71674 0.998 D 0.75484 0.986 D 0.94897 0.8053 10 0.72032 D 0.01 -12.4207 14.8883 0.70587 1.0:0.0:0.0:0.0 . 269 Q9GZT9 EGLN1_HUMAN T 269 ENSP00000355601:I269T ENSP00000355601:I269T I - 2 0 EGLN1 229623452 1.000000 0.71417 0.987000 0.45799 0.970000 0.65996 9.119000 0.94362 1.954000 0.56735 0.460000 0.39030 ATT EGLN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000092879.1 - ENST00000366641.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 FMO3 2328 broad.mit.edu 37 1 171076862 171076862 + Missense_Mutation SNP G G C TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr1:171076862G>C ENST00000367755.4 + 4.0 479 c.368G>C c.(367-369)gGc>gCc p.G123A FMO3_ENST00000392085.2_Missense_Mutation_p.G123A|FMO3_ENST00000538429.1_Missense_Mutation_p.G60A|FMO3_ENST00000542847.1_Missense_Mutation_p.G103A NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 123.0 drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231) amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899) endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31.0 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582) GCAACTACTGGCCAGTGGGAT 0.398 0 121.0 119.0 120.0 1 171076862.0 2203.0 4300.0 6503.0 SO:0001583 missense BC032016 CCDS1292.1 1q24.3 2013-10-01 ENSG00000007933 ENSG00000007933 2328.0 2328.0 2.6.1.16 3771.0 protein-coding gene gene with protein product 136132.0 8486388, 9417913 Standard NM_006894 NM_001002294 Approved uc001ghh.3 P31513 OTTHUMG00000035505 ENST00000367755.4:c.368G>C 1.__UNKNOWN__:g.171076862G>C ENSP00000356729:p.Gly123Ala B2R816|Q14854|Q8N5N5 __UNKNOWN__ CCDS1292.1 . . . . . . . . . . G 17.75 3.466451 0.63625 . . ENSG00000007933 ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429 T;T;T;T 0.68025 -0.3;-0.3;-0.3;-0.3 4.84 4.84 0.62591 . 0.000000 0.85682 D 0.000000 D 0.83004 0.5160 M 0.90309 3.105 0.80722 D 1 D;D;D 0.89917 1.0;0.999;0.999 D;D;D 0.97110 1.0;0.994;0.993 D 0.87259 0.2278 10 0.87932 D 0 -9.8039 17.546 0.87861 0.0:0.0:1.0:0.0 . 60;103;123 F5H261;F5GZZ8;P31513 .;.;FMO3_HUMAN A 123;123;103;60 ENSP00000356729:G123A;ENSP00000375935:G123A;ENSP00000444073:G103A;ENSP00000439500:G60A ENSP00000356729:G123A G + 2 0 FMO3 169343486 1.000000 0.71417 0.920000 0.36463 0.037000 0.13140 9.864000 0.99589 2.201000 0.70794 0.591000 0.81541 GGC FMO3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086219.1 + ENST00000367755.4 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 OR10T2 128360 broad.mit.edu 37 1 158369200 158369200 + Silent SNP G G A TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr1:158369200G>A ENST00000334438.1 - 1.0 56 c.57C>T c.(55-57)tcC>tcT p.S19S NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 19.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34.0 all_hematologic(112;0.0378) CCCCCAGGCTGGAGAAACCCA 0.458 0 34.0 38.0 37.0 1 158369200.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB065643 CCDS30895.1 1q23.1 2012-08-09 ENSG00000186306 ENSG00000186306 128360.0 128360.0 """GPCR / Class A : Olfactory receptors""" 14816.0 protein-coding gene gene with protein product Standard NM_001004475 NM_001004475 Approved uc010pih.2 Q8NGX3 OTTHUMG00000017521 ENST00000334438.1:c.57C>T 1.__UNKNOWN__:g.158369200G>A Q6IF98 __UNKNOWN__ CCDS30895.1 OR10T2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000046371.1 - ENST00000334438.1 Silent SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 MBD5 0 broad.mit.edu 37 2 149227977 149227977 + Missense_Mutation SNP C C G TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr2:149227977C>G ENST00000407073.1 + 9.0 3462 c.2465C>G c.(2464-2466)cCa>cGa p.P822R MBD5_ENST00000404807.1_Missense_Mutation_p.P822R NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 822.0 glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708) chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) chromatin binding (GO:0003682) 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) 62.0 BRCA - Breast invasive adenocarcinoma(221;0.0569) TCCTCCACTCCAGTGATACCA 0.423 0 73.0 71.0 72.0 2 149227977.0 2203.0 4300.0 6503.0 SO:0001583 missense AB040894 CCDS33302.1 2q23.2 2009-04-17 ENSG00000204406 ENSG00000204406 55777.0 20444.0 protein-coding gene gene with protein product 611472.0 12529184 Standard NM_018328 Approved FLJ11113, KIAA1461 uc002twm.4 Q9P267 OTTHUMG00000150440 ENST00000407073.1:c.2465C>G 2.__UNKNOWN__:g.149227977C>G ENSP00000386049:p.Pro822Arg A5HMQ4|A7E2B1|Q53SR1|Q9NUV6 __UNKNOWN__ CCDS33302.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 9.091|9.091 1.001802|1.001802 0.19121|0.19121 .|. .|. ENSG00000204406|ENSG00000204406 ENST00000407073;ENST00000404807|ENST00000416015 T;T|. 0.45668|. 0.9;0.89|. 4.75|4.75 4.75|4.75 0.60458|0.60458 .|. 0.000000|. 0.64402|. D|. 0.000017|. T|T 0.51584|0.51584 0.1683|0.1683 N|N 0.19112|0.19112 0.55|0.55 0.39494|0.39494 D|D 0.968099|0.968099 D;D|. 0.69078|. 0.991;0.997|. P;D|. 0.63793|. 0.686;0.918|. T|T 0.49123|0.49123 -0.8972|-0.8972 10|5 0.66056|. D|. 0.02|. -5.0769|-5.0769 16.4755|16.4755 0.84131|0.84131 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 822;822|. Q9P267-2;Q9P267|. .;MBD5_HUMAN|. R|E 822|562 ENSP00000386049:P822R;ENSP00000384672:P822R|. ENSP00000384672:P822R|. P|Q +|+ 2|1 0|0 MBD5|MBD5 148944447|148944447 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.999000|0.999000 0.98932|0.98932 5.642000|5.642000 0.67888|0.67888 2.636000|2.636000 0.89361|0.89361 0.655000|0.655000 0.94253|0.94253 CCA|CAG MBD5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318111.2 + ENST00000407073.1 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 PGR 5241 broad.mit.edu 37 11 100912716 100912716 + Missense_Mutation SNP C C T TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr11:100912716C>T ENST00000325455.5 - 7.0 4059 c.2606G>A c.(2605-2607)cGt>cAt p.R869H PGR_ENST00000534013.1_Missense_Mutation_p.R275H|PGR_ENST00000263463.5_Missense_Mutation_p.R767H NM_000926.4|NM_001202474.1|NM_001271162.1 NP_000917.3|NP_001189403.1|NP_001258091.1 P06401 PRGR_HUMAN progesterone receptor 869.0 Steroid-binding. cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367) mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270) 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) 36.0 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) Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421) TTGATAGAAACGCTGTGAGCT 0.368 Pancreas(124;2271 2354 21954 22882) 0 93.0 87.0 89.0 11 100912716.0 2203.0 4300.0 6503.0 SO:0001583 missense M15716 CCDS8310.1, CCDS59229.1 11q22-q23 2013-01-16 ENSG00000082175 ENSG00000082175 5241.0 5241.0 """Nuclear hormone receptors""" 8910.0 protein-coding gene gene with protein product 607311.0 Standard NM_000926 Approved PR, NR3C3 uc001pgh.2 P06401 OTTHUMG00000167531 ENST00000325455.5:c.2606G>A 11.__UNKNOWN__:g.100912716C>T ENSP00000325120:p.Arg869His A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7 __UNKNOWN__ CCDS8310.1 . . . . . . . . . . C 31 5.084326 0.94100 . . ENSG00000082175 ENST00000325455;ENST00000534013;ENST00000263463 D;D;D 0.98937 -5.25;-5.25;-5.25 5.34 5.34 0.76211 Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2); 0.118979 0.56097 D 0.000025 D 0.99275 0.9747 M 0.88450 2.955 0.58432 D 0.999996 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 0.999;1.0;1.0 D 0.99267 1.0892 10 0.59425 D 0.04 . 19.051 0.93046 0.0:1.0:0.0:0.0 . 767;869;250 Q8TDS3;P06401;A7LQ08 .;PRGR_HUMAN;. H 869;275;767 ENSP00000325120:R869H;ENSP00000436561:R275H;ENSP00000263463:R767H ENSP00000263463:R767H R - 2 0 PGR 100417926 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 5.584000 0.67490 2.501000 0.84356 0.585000 0.79938 CGT PGR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394934.1 - ENST00000325455.5 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 FLII 2314 broad.mit.edu 37 17 18150576 18150576 + Silent SNP C C G TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr17:18150576C>G ENST00000327031.4 - 21.0 2808 c.2583G>C c.(2581-2583)ggG>ggC p.G861G FLII_ENST00000545457.2_Silent_p.G806G|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Silent_p.G775G|FLII_ENST00000579294.1_Silent_p.G850G NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 861.0 multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634) actin binding (GO:0003779) central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32.0 all_neural(463;0.228) GTTTCACCTTCCCGGAGAGAC 0.622 0 70.0 71.0 71.0 17 18150576.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U01184 CCDS11192.1, CCDS58521.1, CCDS58522.1 17p11.2 2008-07-18 2001-11-28 ENSG00000177731 ENSG00000177731 2314.0 2314.0 3750.0 protein-coding gene gene with protein product 600362.0 """flightless I (Drosophila) homolog""" 7825574 Standard NM_002018 NM_002018 Approved FLI, FLIL, Fli1, MGC39265 uc002gsr.2 Q13045 OTTHUMG00000059389 ENST00000327031.4:c.2583G>C 17.__UNKNOWN__:g.18150576C>G B4DIL0|F5H407|J3QLG3 __UNKNOWN__ CCDS11192.1 FLII-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000132032.2 - ENST00000327031.4 Silent SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 TENM1 10178 broad.mit.edu 37 X 123518383 123518383 + Missense_Mutation SNP T T C TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chrX:123518383T>C ENST00000371130.3 - 29.0 6440 c.6377A>G c.(6376-6378)cAa>cGa p.Q2126R TENM1_ENST00000422452.2_Missense_Mutation_p.Q2133R|STAG2_ENST00000469481.1_Intron NM_014253.3 NP_055068.2 Q9UKZ4 TEN1_HUMAN teneurin transmembrane protein 1 2126.0 immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803) ATTATCATATTGAATGGTCAT 0.398 0 199.0 166.0 177.0 X 123518383.0 2203.0 4300.0 6503.0 SO:0001583 missense AF100772 CCDS14609.1, CCDS55488.1 Xq25 2012-10-02 2012-10-02 2012-10-02 ENSG00000009694 ENSG00000009694 10178.0 10178.0 8117.0 protein-coding gene gene with protein product 300588.0 """tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)""" ODZ3, TNM, ODZ1 10331952, 10341219 Standard NM_014253 NM_001163278 Approved TEN-M1 uc010nqy.3 Q9UKZ4 OTTHUMG00000022721 ENST00000371130.3:c.6377A>G X.__UNKNOWN__:g.123518383T>C ENSP00000360171:p.Gln2126Arg B2RTR5|Q5JZ17 __UNKNOWN__ CCDS14609.1 . . . . . . . . . . T 17.27 3.348330 0.61183 . . ENSG00000009694 ENST00000371130;ENST00000422452 D;D 0.86230 -2.09;-2.06 5.46 5.46 0.80206 . 0.000000 0.85682 D 0.000000 D 0.91935 0.7446 M 0.65975 2.015 0.80722 D 1 D;P;P 0.60160 0.987;0.473;0.852 D;B;B 0.67725 0.953;0.1;0.286 D 0.92096 0.5684 10 0.51188 T 0.08 . 14.5617 0.68144 0.0:0.0:0.0:1.0 . 2132;2133;2126 B7ZMH4;B2RTR5;Q9UKZ4 .;.;TEN1_HUMAN R 2126;2133 ENSP00000360171:Q2126R;ENSP00000403954:Q2133R ENSP00000360171:Q2126R Q - 2 0 ODZ1 123346064 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 8.040000 0.89188 1.819000 0.53055 0.441000 0.28932 CAA TENM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058985.1 - ENST00000371130.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 CYP2A7 1549 broad.mit.edu 37 19 41388088 41388088 + Missense_Mutation SNP C C T rs138544645 TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr19:41388088C>T ENST00000301146.4 - 1.0 569 c.28G>A c.(28-30)Gcc>Acc p.A10T CYP2A7_ENST00000291764.3_Missense_Mutation_p.A10T|CTC-490E21.12_ENST00000601627.1_Intron NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 10.0 endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825) 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) 27.0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GCCAGCAAGGCCACCAGAAGC 0.582 0 79.0 69.0 73.0 19 41388088.0 2203.0 4300.0 6503.0 SO:0001583 missense NM_000764 CCDS12569.1, CCDS42570.1 19q13.2 2013-07-25 2003-01-14 ENSG00000198077 ENSG00000198077 1549.0 1549.0 """Cytochrome P450s""" 2611.0 protein-coding gene gene with protein product 608054.0 """cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7""" 7668294, 15128046 Standard NM_030589 NM_030589 Approved CYP2A uc002opm.3 P20853 OTTHUMG00000182715 ENST00000301146.4:c.28G>A 19.__UNKNOWN__:g.41388088C>T ENSP00000301146:p.Ala10Thr Q13121 __UNKNOWN__ CCDS12569.1 . . . . . . . . . . C 10.98 1.503590 0.26949 . . ENSG00000198077 ENST00000301146;ENST00000291764 T;T 0.71103 -0.53;-0.54 2.31 1.23 0.21249 . 0.587085 0.16392 U 0.216422 T 0.52565 0.1742 L 0.39898 1.24 0.09310 N 1 B;B 0.23185 0.081;0.049 B;B 0.15052 0.012;0.005 T 0.27226 -1.0080 10 0.17369 T 0.5 . 4.8619 0.13588 0.0:0.8079:0.0:0.1921 . 10;10 F8W816;P20853 .;CP2A7_HUMAN T 10 ENSP00000301146:A10T;ENSP00000291764:A10T ENSP00000291764:A10T A - 1 0 CYP2A7 46079928 0.000000 0.05858 0.027000 0.17364 0.458000 0.32498 0.481000 0.22260 0.301000 0.22738 0.162000 0.16502 GCC CYP2A7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463269.2 - ENST00000301146.4 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 KCTD3 51133 broad.mit.edu 37 1 215792612 215792612 + Missense_Mutation SNP A A G TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr1:215792612A>G ENST00000259154.4 + 17.0 2159 c.1865A>G c.(1864-1866)cAc>cGc p.H622R KCTD3_ENST00000495537.1_3'UTR NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 622.0 protein homooligomerization (GO:0051260) breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33.0 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) CAGCATAGCCACTTACGAGAA 0.363 0 123.0 129.0 127.0 1 215792612.0 2203.0 4300.0 6503.0 SO:0001583 missense AK024547 CCDS1515.1 1q41 2013-06-20 2013-06-20 ENSG00000136636 ENSG00000136636 51133.0 51133.0 21305.0 protein-coding gene gene with protein product 613272.0 """potassium channel tetramerisation domain containing 3""" 10508479 Standard NM_016121 NM_016121 Approved NY-REN-45 uc001hks.3 Q9Y597 OTTHUMG00000037019 ENST00000259154.4:c.1865A>G 1.__UNKNOWN__:g.215792612A>G ENSP00000259154:p.His622Arg A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16 __UNKNOWN__ CCDS1515.1 . . . . . . . . . . A 0.269 -0.994361 0.02145 . . ENSG00000136636 ENST00000259154 T 0.35048 1.33 5.65 3.78 0.43462 . 0.159548 0.56097 N 0.000021 T 0.07593 0.0191 N 0.00138 -2.015 0.23293 N 0.997966 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.36138 -0.9760 10 0.02654 T 1 -4.8796 11.6263 0.51147 0.1408:0.0:0.8592:0.0 . 372;374;620;622 B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597 .;.;.;KCTD3_HUMAN R 622 ENSP00000259154:H622R ENSP00000259154:H622R H + 2 0 KCTD3 213859235 1.000000 0.71417 0.723000 0.30687 0.351000 0.29236 5.388000 0.66249 0.732000 0.32470 -0.472000 0.04984 CAC KCTD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000089871.2 + ENST00000259154.4 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 ADAM2 2515 broad.mit.edu 37 8 39613293 39613293 + Missense_Mutation SNP C C A TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr8:39613293C>A ENST00000379853.2 - 12.0 1307 c.1283G>T c.(1282-1284)aGc>aTc p.S428I ADAM2_ENST00000521880.1_Intron|ADAM2_ENST00000347580.4_Missense_Mutation_p.S565I|ADAM2_ENST00000265708.4_Missense_Mutation_p.S584I Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 584.0 Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}. adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542) cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53.0 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CATCTTTTGGCTGTCTGCATG 0.348 0 95.0 91.0 93.0 8 39613293.0 2202.0 4300.0 6502.0 SO:0001583 missense U52370 CCDS34884.1, CCDS64882.1, CCDS64883.1 8p11.2 2009-03-25 2008-07-31 ENSG00000104755 ENSG00000104755 2515.0 2515.0 """ADAM metallopeptidase domain containing""" 198.0 protein-coding gene gene with protein product """cancer/testis antigen 15""" 601533.0 """fertilin beta""" FTNB 8702389, 9070941 Standard NM_001464 NM_001278113 Approved PH-30b, PH30, CT15 uc003xnj.4 Q99965 OTTHUMG00000164041 ENST00000379853.2:c.1283G>T 8.__UNKNOWN__:g.39613293C>A ENSP00000369182:p.Ser428Ile P78326|Q9UQQ8 __UNKNOWN__ . . . . . . . . . . C 8.865 0.947987 0.18356 . . ENSG00000104755 ENST00000347580;ENST00000379853;ENST00000265708 T;T;T 0.23552 1.9;4.31;1.9 4.67 -2.03 0.07365 ADAM, cysteine-rich (2); . . . . T 0.24812 0.0602 M 0.73598 2.24 0.09310 N 1 P;B;B 0.34462 0.454;0.089;0.108 B;B;B 0.38562 0.276;0.098;0.222 T 0.33727 -0.9857 8 . . . . 0.9279 0.01328 0.1599:0.2941:0.1563:0.3897 . 428;565;584 Q6P2G0;Q99965-2;Q99965 .;.;ADAM2_HUMAN I 565;428;584 ENSP00000343854:S565I;ENSP00000369182:S428I;ENSP00000265708:S584I . S - 2 0 ADAM2 39732450 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -3.573000 0.00426 -0.090000 0.12462 -0.136000 0.14681 AGC ADAM2-004 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000376925.1 - ENST00000379853.2 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 CYP2A7 1549 broad.mit.edu 37 19 41387998 41387998 + Silent SNP G G A TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr19:41387998G>A ENST00000301146.4 - 1.0 659 c.118C>T c.(118-120)Ctg>Ttg p.L40L CYP2A7_ENST00000291764.3_Silent_p.L40L|CTC-490E21.12_ENST00000601627.1_Intron NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 40.0 endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825) 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) 27.0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) ATGAAGGGCAGTGGGGTGGGT 0.587 0 91.0 73.0 79.0 19 41387998.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant NM_000764 CCDS12569.1, CCDS42570.1 19q13.2 2013-07-25 2003-01-14 ENSG00000198077 ENSG00000198077 1549.0 1549.0 """Cytochrome P450s""" 2611.0 protein-coding gene gene with protein product 608054.0 """cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7""" 7668294, 15128046 Standard NM_030589 NM_030589 Approved CYP2A uc002opm.3 P20853 OTTHUMG00000182715 ENST00000301146.4:c.118C>T 19.__UNKNOWN__:g.41387998G>A Q13121 __UNKNOWN__ CCDS12569.1 CYP2A7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463269.2 - ENST00000301146.4 Silent SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 CACYBP 27101 broad.mit.edu 37 1 174977818 174977818 + Missense_Mutation SNP T T C TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr1:174977818T>C ENST00000405362.1 + 5.0 878 c.377T>C c.(376-378)gTt>gCt p.V126A CACYBP_ENST00000367679.2_Missense_Mutation_p.V169A|CACYBP_ENST00000367681.2_Missense_Mutation_p.V126A Q9HB71 CYBP_HUMAN calcyclin binding protein 169.0 CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Interaction with SKP1. aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416) beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634) protein homodimerization activity (GO:0042803) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 11.0 CTGACCCAGGTTGAAAAGGAG 0.333 0 85.0 83.0 84.0 1 174977818.0 2203.0 4300.0 6503.0 SO:0001583 missense BC022352 CCDS1315.1, CCDS30942.1 1q24-q25 2008-02-05 ENSG00000116161 ENSG00000116161 27101.0 27101.0 30423.0 protein-coding gene gene with protein product 606186.0 11389839, 12421809 Standard NM_014412 XM_005245092 Approved SIP, S100A6BP uc001gkj.1 Q9HB71 OTTHUMG00000034941 ENST00000405362.1:c.377T>C 1.__UNKNOWN__:g.174977818T>C ENSP00000385771:p.Val126Ala B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371 __UNKNOWN__ CCDS30942.1 . . . . . . . . . . T 16.13 3.034696 0.54896 . . ENSG00000116161 ENST00000367681;ENST00000450101;ENST00000367679;ENST00000405362 . . . 5.41 5.41 0.78517 SGS (2);HSP20-like chaperone (1); 0.000000 0.85682 D 0.000000 T 0.68677 0.3027 M 0.62723 1.935 0.80722 D 1 B 0.19073 0.033 B 0.33620 0.167 T 0.65948 -0.6044 9 0.39692 T 0.17 0.2141 15.0861 0.72155 0.0:0.0:0.0:1.0 . 169 Q9HB71 CYBP_HUMAN A 126;142;169;126 . ENSP00000356652:V169A V + 2 0 CACYBP 173244441 1.000000 0.71417 1.000000 0.80357 0.772000 0.43724 6.399000 0.73248 2.052000 0.61016 0.533000 0.62120 GTT CACYBP-004 PUTATIVE alternative_5_UTR|basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000084586.2 + ENST00000405362.1 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 ANKFN1 162282 broad.mit.edu 37 17 54452061 54452061 + Missense_Mutation SNP T T C TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr17:54452061T>C ENST00000566473.2 + 7.0 905 c.905T>C c.(904-906)gTa>gCa p.V302A ANKFN1_ENST00000318698.2_Missense_Mutation_p.V302A Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 302.0 Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}. NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53.0 GCAGCTGTAGTAACCAGGTAT 0.448 0 164.0 145.0 152.0 17 54452061.0 2203.0 4300.0 6503.0 SO:0001583 missense AK095654 CCDS32686.1 17q23.2 2014-02-12 2005-11-15 ENSG00000153930 ENSG00000153930 162282.0 162282.0 """Ankyrin repeat domain containing"", ""Fibronectin type III domain containing""" 26766.0 protein-coding gene gene with protein product Standard NM_153228 NM_153228 Approved FLJ38335 uc002iun.1 Q8N957 OTTHUMG00000155010 ENST00000566473.2:c.905T>C 17.__UNKNOWN__:g.54452061T>C ENSP00000454224:p.Val302Ala __UNKNOWN__ . . . . . . . . . . T 11.87 1.767827 0.31320 . . ENSG00000153930 ENST00000318698 T 0.59083 0.29 5.51 5.51 0.81932 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.056135 0.64402 D 0.000001 T 0.72153 0.3425 M 0.78637 2.42 0.54753 D 0.999981 D 0.63046 0.992 P 0.61328 0.887 T 0.69756 -0.5059 10 0.16896 T 0.51 -12.1664 15.9214 0.79580 0.0:0.0:0.0:1.0 . 302 Q8N957 ANKF1_HUMAN A 302 ENSP00000321627:V302A ENSP00000321627:V302A V + 2 0 ANKFN1 51807060 1.000000 0.71417 0.977000 0.42913 0.882000 0.50991 7.434000 0.80377 2.228000 0.72767 0.523000 0.50628 GTA ANKFN1-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000435456.2 + ENST00000566473.2 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 RAB39A 54734 broad.mit.edu 37 11 107832959 107832959 + Missense_Mutation SNP C C T TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr11:107832959C>T ENST00000320578.2 + 2.0 581 c.515C>T c.(514-516)aCg>aTg p.T172M NM_017516.1 NP_059986.1 Q14964 RB39A_HUMAN RAB39A, member RAS oncogene family 172.0 phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886) GTP binding (GO:0005525) ACAATCTTGACGAGAGACATA 0.378 0 80.0 82.0 82.0 11 107832959.0 2201.0 4298.0 6499.0 SO:0001583 missense X99962 CCDS8338.1 11q22.3 2011-11-22 2011-11-22 2011-11-22 ENSG00000179331 ENSG00000179331 54734.0 54734.0 """RAB, member RAS oncogene""" 16521.0 protein-coding gene gene with protein product """rab-related GTP-binding protein""" """RAB39, member RAS oncogene family""" RAB39 9119394 Standard NM_017516 NM_017516 Approved uc001pjt.3 Q14964 OTTHUMG00000166367 ENST00000320578.2:c.515C>T 11.__UNKNOWN__:g.107832959C>T ENSP00000322594:p.Thr172Met A8KAA4|Q8N6W2 __UNKNOWN__ CCDS8338.1 . . . . . . . . . . C 22.3 4.275735 0.80580 . . ENSG00000179331 ENST00000320578 T 0.80033 -1.33 4.97 4.97 0.65823 . 0.104033 0.42420 D 0.000712 D 0.89223 0.6654 M 0.70903 2.155 0.52099 D 0.999947 D 0.89917 1.0 D 0.75484 0.986 D 0.90320 0.4344 10 0.87932 D 0 . 18.4142 0.90563 0.0:1.0:0.0:0.0 . 172 Q14964 RB39A_HUMAN M 172 ENSP00000322594:T172M ENSP00000322594:T172M T + 2 0 RAB39 107338169 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 5.426000 0.66476 2.554000 0.86153 0.591000 0.81541 ACG RAB39A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389423.1 + ENST00000320578.2 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 FRMPD4 9758 broad.mit.edu 37 X 12735860 12735860 + Missense_Mutation SNP C C G TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chrX:12735860C>G ENST00000380682.1 + 16.0 3421 c.2915C>G c.(2914-2916)gCt>gGt p.A972G NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 972.0 positive regulation of synapse structural plasticity (GO:0051835) cytoskeleton (GO:0005856)|dendritic spine (GO:0043197) phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22.0 CACGCCCTGGCTGCTAGGCCA 0.597 0 58.0 59.0 59.0 X 12735860.0 2203.0 4300.0 6503.0 SO:0001583 missense AB002314 CCDS35201.1 Xp22.31 2006-02-09 2006-02-09 2006-02-09 ENSG00000169933 ENSG00000169933 9758.0 9758.0 29007.0 protein-coding gene gene with protein product 300838.0 """PDZ domain containing 10""" PDZK10, PDZD10 9205841 Standard XM_045712 NM_014728 Approved KIAA0316 uc004cuz.2 Q14CM0 OTTHUMG00000021138 ENST00000380682.1:c.2915C>G X.__UNKNOWN__:g.12735860C>G ENSP00000370057:p.Ala972Gly A8K0X9|O15032 __UNKNOWN__ CCDS35201.1 . . . . . . . . . . C 7.772 0.707649 0.15239 . . ENSG00000169933 ENST00000380682;ENST00000429478;ENST00000304087 T 0.06768 3.26 5.47 5.47 0.80525 . 0.344938 0.31697 N 0.007215 T 0.10208 0.0250 M 0.63428 1.95 0.22581 N 0.998964 B;B 0.16166 0.016;0.007 B;B 0.09377 0.004;0.003 T 0.22487 -1.0215 10 0.19147 T 0.46 -6.8391 11.5846 0.50910 0.0:0.9154:0.0:0.0846 . 964;972 B7ZLE1;Q14CM0 .;FRPD4_HUMAN G 972;963;961 ENSP00000370057:A972G ENSP00000304583:A961G A + 2 0 FRMPD4 12645781 0.575000 0.26692 0.219000 0.23793 0.376000 0.30014 1.749000 0.38319 2.293000 0.77203 0.513000 0.50165 GCT FRMPD4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055771.1 + ENST00000380682.1 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 SPEN 23013 broad.mit.edu 37 1 16261761 16261761 + Missense_Mutation SNP C C G TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr1:16261761C>G ENST00000375759.3 + 11.0 9230 c.9026C>G c.(9025-9027)gCa>gGa p.A3009G NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3009.0 negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714) 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) 149.0 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) AGCATCCCAGCAGATCGAACT 0.617 0 107.0 100.0 103.0 1 16261761.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS164.1 1p36 2013-10-17 2013-10-17 ENSG00000065526 ENSG00000065526 23013.0 23013.0 """RNA binding motif (RRM) containing""" 17575.0 protein-coding gene gene with protein product 613484.0 """SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)""" 10451362, 11331609 Standard NM_015001 NM_015001 Approved KIAA0929, MINT, SHARP, RBM15C uc001axk.1 Q96T58 OTTHUMG00000009376 ENST00000375759.3:c.9026C>G 1.__UNKNOWN__:g.16261761C>G ENSP00000364912:p.Ala3009Gly Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556 __UNKNOWN__ CCDS164.1 . . . . . . . . . . C 3.675 -0.066812 0.07273 . . ENSG00000065526 ENST00000375759 T 0.08546 3.08 5.58 5.58 0.84498 . . . . . T 0.08802 0.0218 N 0.25647 0.755 0.36475 D 0.867503 B 0.23377 0.084 B 0.19148 0.024 T 0.19877 -1.0292 9 0.49607 T 0.09 -2.6938 18.5617 0.91102 0.0:1.0:0.0:0.0 . 3009 Q96T58 MINT_HUMAN G 3009 ENSP00000364912:A3009G ENSP00000364912:A3009G A + 2 0 SPEN 16134348 0.002000 0.14202 0.904000 0.35570 0.108000 0.19459 1.278000 0.33179 2.619000 0.88677 0.561000 0.74099 GCA SPEN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000025993.1 + ENST00000375759.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 ALKBH1 8846 broad.mit.edu 37 14 78174291 78174291 + Silent SNP C C T TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr14:78174291C>T ENST00000216489.3 - 1.0 72 c.57G>A c.(55-57)ggG>ggA p.G19G NM_006020.2 NP_006011.2 Q13686 ALKB1_HUMAN alkB, alkylation repair homolog 1 (E. coli) 19.0 developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245) mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719) chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579) endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9.0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) AGGCGTCCTCCCCGGGCTCAG 0.652 0 30.0 34.0 33.0 14 78174291.0 2200.0 4295.0 6495.0 SO:0001819 synonymous_variant X91992 CCDS32127.1 14q24 2014-07-23 2006-02-09 2006-02-09 ENSG00000100601 ENSG00000100601 8846.0 8846.0 """Alkylation repair homologs""" 17911.0 protein-coding gene gene with protein product 605345.0 """alkB, alkylation repair homolog (E. coli)""" ALKBH 8600462 Standard NM_006020 XM_005268165 Approved hABH, alkB, ABH uc001xuc.1 Q13686 OTTHUMG00000171542 ENST00000216489.3:c.57G>A 14.__UNKNOWN__:g.78174291C>T Q8TAU1|Q9ULA7 __UNKNOWN__ CCDS32127.1 ALKBH1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000414037.1 - ENST00000216489.3 Silent SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 SACS 26278 broad.mit.edu 37 13 23906391 23906391 + Missense_Mutation SNP C C A TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr13:23906391C>A ENST00000382292.3 - 9.0 11897 c.11624G>T c.(11623-11625)cGt>cTt p.R3875L SACS_ENST00000402364.1_Missense_Mutation_p.R3125L|SACS_ENST00000382298.3_Missense_Mutation_p.R3875L Q9NZJ4 SACS_HUMAN sacsin molecular chaperone 3875.0 cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457) axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634) chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628) 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) 189.0 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) CTTAACTGTACGCATTTCATT 0.383 0 140.0 138.0 139.0 13 23906391.0 2203.0 4299.0 6502.0 SO:0001583 missense AF193556 CCDS9300.2 13q11 2014-06-13 2014-01-30 ENSG00000151835 ENSG00000151835 26278.0 26278.0 """Heat shock proteins / DNAJ (HSP40)""" 10519.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 138""" 604490.0 """spastic ataxia of Charlevoix-Saguenay (sacsin)""" 10610707, 15057823, 21726565 Standard NM_014363 NM_001278055 Approved ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138 uc001uon.3 Q9NZJ4 OTTHUMG00000016562 ENST00000382292.3:c.11624G>T 13.__UNKNOWN__:g.23906391C>A ENSP00000371729:p.Arg3875Leu O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9 __UNKNOWN__ CCDS9300.2 . . . . . . . . . . C 25.1 4.598543 0.87055 . . ENSG00000151835 ENST00000382292;ENST00000402364;ENST00000382298 D;D;D 0.88664 -2.26;-2.41;-2.26 5.93 5.93 0.95920 . 0.000000 0.85682 D 0.000000 D 0.92903 0.7742 L 0.46157 1.445 0.53688 D 0.99997 D 0.89917 1.0 D 0.81914 0.995 D 0.91694 0.5368 10 0.44086 T 0.13 . 20.3368 0.98748 0.0:1.0:0.0:0.0 . 3875 Q9NZJ4 SACS_HUMAN L 3875;3125;3875 ENSP00000371729:R3875L;ENSP00000385844:R3125L;ENSP00000371735:R3875L ENSP00000371729:R3875L R - 2 0 SACS 22804391 1.000000 0.71417 0.999000 0.59377 0.976000 0.68499 7.818000 0.86416 2.805000 0.96524 0.655000 0.94253 CGT SACS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044148.3 - ENST00000382292.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 WDR64 128025 broad.mit.edu 37 1 241886684 241886684 + Silent SNP C C T rs142859030 by1000genomes TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr1:241886684C>T ENST00000366552.2 + 9.0 1317 c.1110C>T c.(1108-1110)gcC>gcT p.A370A WDR64_ENST00000437684.2_Silent_p.A370A NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 370.0 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44.0 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) TCAGTATCGCCGAGATCGTAA 0.418 C 1.0 0.0005 2184.0 1.0 , , 0.0003 0.0013 0.0004 0.95 LOWCOV 0.0002 SNP 0 105.0 99.0 101.0 1 241886684.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK057540 1q43 2013-01-09 ENSG00000162843 ENSG00000162843 128025.0 128025.0 """WD repeat domain containing""" 26570.0 protein-coding gene gene with protein product Standard NM_144625 NM_144625 Approved FLJ32978 uc001hzg.2 B1ANS9 OTTHUMG00000039705 ENST00000366552.2:c.1110C>T 1.__UNKNOWN__:g.241886684C>T B1ANT0|Q7Z573|Q96LY9 __UNKNOWN__ WDR64-201 KNOWN basic|appris_principal protein_coding protein_coding + ENST00000366552.2 Silent SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 TM2D1 83941 broad.mit.edu 37 1 62190656 62190656 + Missense_Mutation SNP A A C TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr1:62190656A>C ENST00000606498.1 - 1.0 157 c.137T>G c.(136-138)cTt>cGt p.L46R TM2D1_ENST00000371180.2_Missense_Mutation_p.L108R|TM2D1_ENST00000294613.5_Missense_Mutation_p.L46R|TM2D1_ENST00000371177.2_Missense_Mutation_p.L46R Q9BX74 TM2D1_HUMAN TM2 domain containing 1 46.0 apoptotic signaling pathway (GO:0097190) integral component of plasma membrane (GO:0005887) beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930) large_intestine(2)|lung(3)|ovary(1) 6.0 CTCGCACTTAAGCGACTCCTC 0.637 0 33.0 40.0 38.0 1 62190656.0 1935.0 4116.0 6051.0 SO:0001583 missense AF353990 CCDS65554.1 1p32.1 2008-02-05 ENSG00000162604 ENSG00000162604 83941.0 83941.0 24142.0 protein-coding gene gene with protein product 610080.0 11278849, 12553667 Standard NM_032027 NM_032027 Approved BBP uc001czz.1 Q9BX74 OTTHUMG00000008466 ENST00000606498.1:c.137T>G 1.__UNKNOWN__:g.62190656A>C ENSP00000475700:p.Leu46Arg A6NDA8 __UNKNOWN__ . . . . . . . . . . A 8.085 0.773345 0.16051 . . ENSG00000162604 ENST00000371180;ENST00000294613;ENST00000371178;ENST00000371177 . . . 4.68 -0.348 0.12613 . 0.916184 0.09244 N 0.828840 T 0.30262 0.0759 L 0.29908 0.895 0.09310 N 1 B 0.19583 0.037 B 0.23018 0.043 T 0.26677 -1.0096 9 0.39692 T 0.17 -1.223 9.1324 0.36852 0.6798:0.0:0.3202:0.0 . 46 Q9BX74 TM2D1_HUMAN R 108;46;46;46 . ENSP00000294613:L46R L - 2 0 TM2D1 61963244 0.113000 0.22115 0.260000 0.24451 0.412000 0.31113 0.179000 0.16840 -0.447000 0.07138 -1.777000 0.00654 CTT TM2D1-012 KNOWN non_canonical_U12|basic|appris_principal protein_coding protein_coding OTTHUMT00000470779.2 - ENST00000606498.1 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 SH3BP4 23677 broad.mit.edu 37 2 235950986 235950986 + Missense_Mutation SNP G G A TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr2:235950986G>A ENST00000409212.1 + 4.0 2080 c.1573G>A c.(1573-1575)Ggg>Agg p.G525R SH3BP4_ENST00000344528.4_Missense_Mutation_p.G525R|SH3BP4_ENST00000392011.2_Missense_Mutation_p.G525R Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 525.0 cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790) coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44.0 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) GCAGCTGTGGGGGAAGCACCA 0.572 0 63.0 65.0 65.0 2 235950986.0 2203.0 4300.0 6503.0 SO:0001583 missense AF147747 CCDS2513.1 2q37.1-q37.2 2008-05-15 ENSG00000130147 ENSG00000130147 23677.0 23677.0 10826.0 protein-coding gene gene with protein product 605611.0 10644451 Standard NM_014521 Approved uc002vvp.3 Q9P0V3 OTTHUMG00000133292 ENST00000409212.1:c.1573G>A 2.__UNKNOWN__:g.235950986G>A ENSP00000386862:p.Gly525Arg O95082|Q309A3|Q53QD0|Q53TD1 __UNKNOWN__ CCDS2513.1 . . . . . . . . . . G 16.20 3.056540 0.55325 . . ENSG00000130147 ENST00000392011;ENST00000409212;ENST00000344528 T;T;T 0.16457 2.34;2.34;2.34 4.97 4.97 0.65823 . 0.000000 0.85682 D 0.000000 T 0.44871 0.1314 M 0.76838 2.35 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 T 0.48692 -0.9013 10 0.87932 D 0 -26.6651 16.8005 0.85613 0.0:0.0:1.0:0.0 . 525;525 A8K594;Q9P0V3 .;SH3B4_HUMAN R 525 ENSP00000375867:G525R;ENSP00000386862:G525R;ENSP00000340237:G525R ENSP00000340237:G525R G + 1 0 SH3BP4 235615725 1.000000 0.71417 0.997000 0.53966 0.268000 0.26511 9.453000 0.97619 2.291000 0.77112 0.591000 0.81541 GGG SH3BP4-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000329763.1 + ENST00000409212.1 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 MUC16 94025 broad.mit.edu 37 19 9087339 9087339 + Missense_Mutation SNP C C T TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr19:9087339C>T ENST00000397910.4 - 1.0 4679 c.4476G>A c.(4474-4476)atG>atA p.M1492I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1492.0 Thr-rich. cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982) 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) 590.0 AAGGTGTGGACATAGGTGGAA 0.423 0 219.0 206.0 210.0 19 9087339.0 1937.0 4138.0 6075.0 SO:0001583 missense AF414442 CCDS54212.1 19p13.2 2008-02-05 2006-03-14 ENSG00000181143 94025.0 94025.0 """Mucins""" 15582.0 protein-coding gene gene with protein product 606154.0 11369781 Standard NM_024690 XM_006722941 Approved CA125, FLJ14303 uc002mkp.3 Q8WXI7 ENST00000397910.4:c.4476G>A 19.__UNKNOWN__:g.9087339C>T ENSP00000381008:p.Met1492Ile Q6ZQW5|Q96RK2 __UNKNOWN__ CCDS54212.1 . . . . . . . . . . c 8.718 0.913626 0.17907 . . ENSG00000181143 ENST00000397910 T 0.02085 4.46 0.821 0.821 0.18799 . . . . . T 0.01353 0.0044 N 0.08118 0 . . . B 0.17268 0.021 B 0.08055 0.003 T 0.36578 -0.9742 8 0.87932 D 0 . 4.9522 0.14021 0.0:1.0:0.0:0.0 . 1492 B5ME49 . I 1492 ENSP00000381008:M1492I ENSP00000381008:M1492I M - 3 0 MUC16 8948339 0.000000 0.05858 0.012000 0.15200 0.843000 0.47879 -0.298000 0.08265 0.724000 0.32296 0.313000 0.20887 ATG MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402806.1 - ENST00000397910.4 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 HFM1 164045 broad.mit.edu 37 1 91866581 91866581 + Missense_Mutation SNP T T C TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr1:91866581T>C ENST00000370425.3 - 2.0 157 c.59A>G c.(58-60)gAt>gGt p.D20G 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) 20.0 resolution of meiotic recombination intermediates (GO:0000712) ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676) 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) 75.0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TTCAACTTCATCTGGTTTTTC 0.299 0 43.0 45.0 44.0 1 91866581.0 2201.0 4287.0 6488.0 SO:0001583 missense AB204867 CCDS30769.2 1p22.2 2008-03-26 ENSG00000162669 ENSG00000162669 164045.0 164045.0 20193.0 protein-coding gene gene with protein product 615684.0 """SEC63 domain containing 1""" SEC63D1 14702039, 17286053 Standard NM_001017975 XM_006710395 Approved MER3, FLJ39011, FLJ36760 uc001doa.4 A2PYH4 OTTHUMG00000010093 ENST00000370425.3:c.59A>G 1.__UNKNOWN__:g.91866581T>C ENSP00000359454:p.Asp20Gly B1B0B6|Q8N9Q0 __UNKNOWN__ CCDS30769.2 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 12.19|12.19 1.864969|1.864969 0.32977|0.32977 .|. .|. ENSG00000162669|ENSG00000162669 ENST00000370425;ENST00000541820;ENST00000448819;ENST00000455133|ENST00000370421;ENST00000427444 T;T|T 0.64803|0.28895 -0.12;1.0|1.59 5.57|5.57 3.18|3.18 0.36537|0.36537 .|. .|. .|. .|. .|. T|T 0.10380|0.10380 0.0254|0.0254 N|N 0.12182|0.12182 0.205|0.205 0.80722|0.80722 D|D 1|1 B;B|. 0.21225|. 0.053;0.009|. B;B|. 0.17722|. 0.019;0.007|. T|T 0.09271|0.09271 -1.0682|-1.0682 9|7 0.49607|0.72032 T|D 0.09|0.01 .|. 7.5786|7.5786 0.27950|0.27950 0.0:0.1731:0.0:0.8269|0.0:0.1731:0.0:0.8269 .|. 20;20|. B7ZM16;A2PYH4|. .;HFM1_HUMAN|. G|V 20;53;20;20|16 ENSP00000359454:D20G;ENSP00000409827:D20G|ENSP00000388900:M16V ENSP00000359454:D20G|ENSP00000359450:M16V D|M -|- 2|1 0|0 HFM1|HFM1 91639169|91639169 1.000000|1.000000 0.71417|0.71417 0.998000|0.998000 0.56505|0.56505 0.977000|0.977000 0.68977|0.68977 0.597000|0.597000 0.24059|0.24059 0.363000|0.363000 0.24346|0.24346 -0.451000|-0.451000 0.05528|0.05528 GAT|ATG HFM1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316716.2 - ENST00000370425.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 PDE1B 0 broad.mit.edu 37 12 54966508 54966508 + Missense_Mutation SNP C C T TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr12:54966508C>T ENST00000538346.1 + 6.0 731 c.595C>T c.(595-597)Ctc>Ttc p.L199F PDE1B_ENST00000550620.1_Missense_Mutation_p.L220F|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000243052.3_Missense_Mutation_p.L240F Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 240.0 Catalytic. {ECO:0000250}. activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542) cytosol (GO:0005829)|neuronal cell body (GO:0043025) 3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872) endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31.0 Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622) TTGCTTCTTGCTCCGCACAGG 0.517 0 275.0 253.0 260.0 12 54966508.0 2203.0 4300.0 6503.0 SO:0001583 missense U56976 CCDS8882.1, CCDS53800.1, CCDS73477.1 12q13 2008-03-18 ENSG00000123360 5153.0 3.1.4.17 """Phosphodiesterases""" 8775.0 protein-coding gene gene with protein product 171891.0 PDES1B 8855339, 9419816 Standard NM_000924 Approved uc001sgd.2 Q01064 OTTHUMG00000169844 ENST00000538346.1:c.595C>T 12.__UNKNOWN__:g.54966508C>T ENSP00000442559:p.Leu199Phe Q92825|Q96KP3 __UNKNOWN__ . . . . . . . . . . C 13.55 2.269406 0.40095 . . ENSG00000123360 ENST00000243052;ENST00000538346;ENST00000550620 D;D;D 0.81821 -1.54;-1.54;-1.54 4.98 4.09 0.47781 Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2); 0.000000 0.64402 D 0.000002 T 0.74772 0.3760 L 0.28649 0.875 0.49483 D 0.99979 B;B 0.32128 0.2;0.357 B;P 0.44921 0.211;0.464 T 0.66480 -0.5913 10 0.10902 T 0.67 . 11.4578 0.50191 0.0:0.9126:0.0:0.0874 . 220;240 Q01064-2;Q01064 .;PDE1B_HUMAN F 240;199;220 ENSP00000243052:L240F;ENSP00000442559:L199F;ENSP00000448519:L220F ENSP00000243052:L240F L + 1 0 PDE1B 53252775 1.000000 0.71417 1.000000 0.80357 0.975000 0.68041 2.430000 0.44766 1.478000 0.48253 0.655000 0.94253 CTC PDE1B-004 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000406206.1 + ENST00000538346.1 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 YWHAQ 10971 broad.mit.edu 37 2 9728380 9728380 + Missense_Mutation SNP T T C TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr2:9728380T>C ENST00000381844.4 - 3.0 659 c.496A>G c.(496-498)Atc>Gtc p.I166V YWHAQ_ENST00000238081.3_Missense_Mutation_p.I166V|YWHAQ_ENST00000474715.1_5'UTR P27348 1433T_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta 166.0 apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762) cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234) protein N-terminus binding (GO:0047485) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6.0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.241) CCCAGGCGGATTGGGTGTGTG 0.423 T 1.0 0.0005 0.0028 2184.0 0.9999 , , 0.0003 0.0005 0.8689 EXOME 0.0017 SNP 0 108.0 104.0 105.0 2 9728380.0 2203.0 4300.0 6503.0 SO:0001583 missense AF070556 CCDS1666.1 2p25.2-p25.1 2013-12-03 2013-12-03 ENSG00000134308 ENSG00000134308 10971.0 10971.0 12854.0 protein-coding gene gene with protein product """protein tau""" 609009.0 """tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide""" 11080204 Standard NM_006826 NM_006826 Approved HS1, 14-3-3 uc002qzx.3 P27348 OTTHUMG00000013848 ENST00000381844.4:c.496A>G 2.__UNKNOWN__:g.9728380T>C ENSP00000371267:p.Ile166Val D6W4Z5|Q567U5|Q5TZU8|Q9UP48 __UNKNOWN__ CCDS1666.1 1 4.578754578754579E-4 0 0.0 1 0.0027624309392265192 0 0.0 0 0.0 T 25.8 4.676107 0.88445 . . ENSG00000134308 ENST00000238081;ENST00000381844;ENST00000539979 T;T 0.49720 0.77;0.77 5.56 5.56 0.83823 14-3-3 domain (4); 0.068749 0.56097 N 0.000032 T 0.62539 0.2436 M 0.74467 2.265 0.58432 D 0.999992 P 0.49358 0.923 P 0.53006 0.715 T 0.67764 -0.5586 10 0.87932 D 0 . 16.0623 0.80847 0.0:0.0:0.0:1.0 . 166 P27348 1433T_HUMAN V 166;166;131 ENSP00000238081:I166V;ENSP00000371267:I166V ENSP00000238081:I166V I - 1 0 YWHAQ 9645831 1.000000 0.71417 0.978000 0.43139 0.989000 0.77384 6.256000 0.72473 2.250000 0.74265 0.456000 0.33151 ATC YWHAQ-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039014.4 - ENST00000381844.4 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 HSP90AA1 3320 broad.mit.edu 37 14 102552237 102552237 + Silent SNP A A T TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr14:102552237A>T ENST00000216281.8 - 3.0 592 c.387T>A c.(385-387)tcT>tcA p.S129S HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000334701.7_Silent_p.S251S NM_005348.3 NP_005339.3 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 129.0 ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28.0 Nedocromil(DB00716)|Rifabutin(DB00615) GGCCAATCATAGAGATATCTG 0.448 0 70.0 68.0 69.0 14 102552237.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant M27024 CCDS9967.1, CCDS32160.1 14q32.33 2011-09-02 2006-02-24 2006-02-24 ENSG00000080824 ENSG00000080824 3320.0 3320.0 """Heat shock proteins / HSPC""" 5253.0 protein-coding gene gene with protein product 140571.0 """heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha""" HSPC1, HSPCA 2527334, 16269234 Standard NM_005348 NM_001017963 Approved Hsp89, Hsp90, FLJ31884, HSP90N uc001ykv.4 P07900 ENST00000216281.8:c.387T>A 14.__UNKNOWN__:g.102552237A>T A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5 __UNKNOWN__ CCDS9967.1 HSP90AA1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000414952.2 - ENST00000216281.8 Silent SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 Unknown 79518 bcgsc.ca 37 11 56216899 56216899 + RNA SNP G G A TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr11:56216899G>A OR5R1 (31191 upstream) : OR5M9 (13045 downstream) ATATTCTATGGTACTCTGATC 0.493 0 SO:0001628 intergenic_variant 11.__UNKNOWN__:g.56216899G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 FSIP2 401024 ucsc.edu 37 2 186672555 186672555 + Silent SNP G G A TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr2:186672555G>A ENST00000424728.1 + 17.0 18522 c.18522G>A c.(18520-18522)ctG>ctA p.L6174L FSIP2_ENST00000343098.5_Silent_p.L6263L Q5CZC0 FSIP2_HUMAN fibrous sheath interacting protein 2 6174.0 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69.0 CTGATAAGCTGTCTTATAACA 0.323 0 61.0 53.0 55.0 2 186672555.0 1811.0 4071.0 5882.0 SO:0001819 synonymous_variant AK092099 CCDS54426.1 2q32.1 2010-06-18 ENSG00000188738 ENSG00000188738 401024.0 401024.0 21675.0 protein-coding gene gene with protein product 615796 14702039 Standard NM_173651 NM_173651 Approved FLJ34780 uc002upl.3 Q5CZC0 OTTHUMG00000153874 ENST00000424728.1:c.18522G>A 2.__UNKNOWN__:g.186672555G>A Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21 __UNKNOWN__ FSIP2-001 KNOWN basic protein_coding protein_coding OTTHUMT00000332778.3 + ENST00000424728.1 Silent SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 RNASE6 6039 ucsc.edu 37 14 21249880 21249880 + Missense_Mutation SNP C C A TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr14:21249880C>A ENST00000304677.2 + 2.0 315 c.22C>A c.(22-24)Ctt>Att p.L8I NM_005615.4 NP_005606.1 Q93091 RNAS6_HUMAN ribonuclease, RNase A family, k6 8.0 defense response (GO:0006952)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540) large_intestine(1) 1.0 all_cancers(95;0.00406) Epithelial(56;9.21e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0126) CTTTCCTCTTCTTTTACTGCT 0.403 0 110.0 92.0 98.0 14 21249880.0 2203.0 4300.0 6503.0 SO:0001583 missense U64998 CCDS9558.1 14q11 2008-07-09 ENSG00000169413 ENSG00000169413 6039.0 6039.0 """Ribonucleases, RNase A""" 10048.0 protein-coding gene gene with protein product """RNase k6""" 601981 RNS6 8836175, 9647635 Standard NM_005615 Approved uc001vye.4 Q93091 OTTHUMG00000029585 ENST00000304677.2:c.22C>A 14.__UNKNOWN__:g.21249880C>A ENSP00000302046:p.Leu8Ile __UNKNOWN__ CCDS9558.1 . . . . . . . . . . C 12.13 1.846796 0.32606 . . ENSG00000169413 ENST00000304677 T 0.80994 -1.44 4.5 0.601 0.17529 . 0.822698 0.10718 N 0.642109 T 0.81640 0.4865 M 0.90870 3.155 0.09310 N 1 P 0.42908 0.793 B 0.40565 0.333 T 0.72724 -0.4207 10 0.66056 D 0.02 -5.8733 4.2375 0.10632 0.0:0.5455:0.1698:0.2847 . 8 Q93091 RNAS6_HUMAN I 8 ENSP00000302046:L8I ENSP00000302046:L8I L + 1 0 RNASE6 20319720 0.000000 0.05858 0.002000 0.10522 0.012000 0.07955 -0.076000 0.11412 0.101000 0.17610 0.650000 0.86243 CTT RNASE6-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000073750.2 + ENST00000304677.2 Missense_Mutation SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 WDR48 57599 ucsc.edu 37 3 39125723 39125723 + Silent SNP A A T TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq d3410bf2-6b6b-4c73-9e6e-25594f40267f e1babb7b-cefd-4f13-a63b-b487cac31a74 g.chr3:39125723A>T ENST00000302313.5 + 12.0 1279 c.1251A>T c.(1249-1251)ccA>ccT p.P417P WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Silent_p.P335P|WDR48_ENST00000544962.1_Silent_p.P142P NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 417.0 double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032) intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634) breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15.0 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TGTATGTGCCAAATTGGTTCT 0.289 0 101.0 109.0 106.0 3 39125723.0 2203.0 4298.0 6501.0 SO:0001819 synonymous_variant AF468833 CCDS33738.1 3p21.33 2014-06-16 ENSG00000114742 ENSG00000114742 57599.0 57599.0 """WD repeat domain containing""" 30914.0 protein-coding gene gene with protein product 612167 10819331, 12196293, 24482476 Standard NM_020839 NM_020839 Approved KIAA1449, P80, SPG60 uc003cit.3 Q8TAF3 OTTHUMG00000155972 ENST00000302313.5:c.1251A>T 3.__UNKNOWN__:g.39125723A>T B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279 __UNKNOWN__ CCDS33738.1 WDR48-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000342529.1 + ENST00000302313.5 Silent SNP PCPG-TCGA-QT-A5XO-Normal-SM-5EQG2 HERC2 8924 broad.mit.edu 37 15 28456220 28456220 + Missense_Mutation SNP G G A TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr15:28456220G>A ENST00000261609.7 - 44.0 7105 c.6997C>T c.(6997-6999)Ctc>Ttc p.L2333F NM_004667.5 NP_004658.3 HECT and RLD domain containing E3 ubiquitin protein ligase 2 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) 204.0 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) TGGTGGGAGAGCAGCGCCCGA 0.517 0 78.0 74.0 75.0 15 28456220.0 2202.0 4298.0 6500.0 SO:0001583 missense AF071172 CCDS10021.1 15q13 2012-02-23 2012-02-23 ENSG00000128731 ENSG00000128731 8924.0 8924.0 4868.0 protein-coding gene gene with protein product 605837.0 """hect domain and RLD 2""" 9949213 Standard NM_004667 NM_004667 Approved jdf2, p528, D15F37S1 uc001zbj.4 O95714 OTTHUMG00000129251 ENST00000261609.7:c.6997C>T 15.__UNKNOWN__:g.28456220G>A ENSP00000261609:p.Leu2333Phe __UNKNOWN__ CCDS10021.1 . . . . . . . . . . G 17.51 3.406637 0.62399 . . ENSG00000128731 ENST00000261609 T 0.38722 1.12 4.84 4.84 0.62591 . 0.000000 0.85682 D 0.000000 T 0.52549 0.1741 L 0.38175 1.15 0.80722 D 1 D 0.65815 0.995 D 0.72982 0.979 T 0.36720 -0.9736 10 0.13108 T 0.6 . 18.1363 0.89620 0.0:0.0:1.0:0.0 . 2333 O95714 HERC2_HUMAN F 2333 ENSP00000261609:L2333F ENSP00000261609:L2333F L - 1 0 HERC2 26129815 1.000000 0.71417 1.000000 0.80357 0.802000 0.45316 9.652000 0.98499 2.497000 0.84241 0.561000 0.74099 CTC HERC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251358.2 - ENST00000261609.7 Missense_Mutation SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF ATM 472 broad.mit.edu 37 11 108173735 108173735 + Silent SNP A A G TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr11:108173735A>G ENST00000452508.2 + 37.0 5664 c.5475A>G c.(5473-5475)caA>caG p.Q1825Q ATM_ENST00000278616.4_Silent_p.Q1825Q Q13315 ATM_HUMAN ATM serine/threonine kinase 1825.0 brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723) cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674) 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) 448.0 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) Caffeine(DB00201) AAATTCTTCAATTATTAAAGC 0.333 """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) yes Rec yes Ataxia-telangiectasia 11 11q22.3 472.0 ataxia telangiectasia mutated """L, O""" 0 106.0 110.0 109.0 11 108173735.0 2201.0 4298.0 6499.0 SO:0001819 synonymous_variant Familial Cancer Database AT, Louis-Bar syndrome AB209133 CCDS31669.1 11q22-q23 2014-09-17 2014-06-17 ENSG00000149311 ENSG00000149311 472.0 472.0 795.0 protein-coding gene gene with protein product """TEL1, telomere maintenance 1, homolog (S. cerevisiae)""" 607585.0 """ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated""" ATA, ATDC, ATC, ATD Standard NM_000051 XM_005271561 Approved TEL1, TELO1 uc001pkb.1 Q13315 OTTHUMG00000166480 ENST00000452508.2:c.5475A>G 11.__UNKNOWN__:g.108173735A>G B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7 __UNKNOWN__ CCDS31669.1 ATM-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389938.1 + ENST00000452508.2 Silent SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF CCDC70 83446 broad.mit.edu 37 13 52440136 52440136 + Missense_Mutation SNP G G A rs78877659 by1000genomes TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr13:52440136G>A ENST00000242819.4 + 2.0 918 c.622G>A c.(622-624)Gga>Aga p.G208R NM_031290.2 NP_112580.2 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 208.0 extracellular region (GO:0005576)|plasma membrane (GO:0005886) breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15.0 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) CCACATTGCCGGAGAGCAGAT 0.607 G 3.0 0.0014 2184.0 0.01 0.9999 , , 0.0003 0.0014 0.9562 LOWCOV,EXOME 0.0003 SNP 0 43.0 46.0 45.0 13 52440136.0 2203.0 4299.0 6502.0 SO:0001583 missense CCDS9431.1 13q14.3 2006-02-07 ENSG00000123171 ENSG00000123171 83446.0 83446.0 25303.0 protein-coding gene gene with protein product 11230166 Standard NM_031290 NM_031290 Approved DKFZP434K1172, FLJ25853 uc001vfu.4 Q6NSX1 OTTHUMG00000016950 ENST00000242819.4:c.622G>A 13.__UNKNOWN__:g.52440136G>A ENSP00000242819:p.Gly208Arg Q8N7A8|Q9H097 __UNKNOWN__ CCDS9431.1 3 0.0013736263736263737 0 0.0 0 0.0 3 0.005244755244755245 0 0.0 G 4.422 0.077994 0.08485 . . ENSG00000123171 ENST00000242819 T 0.10005 2.92 4.44 -0.537 0.11872 . 1.092780 0.07324 U 0.878043 T 0.03220 0.0094 N 0.08118 0 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.46048 -0.9219 10 0.17369 T 0.5 -22.8057 5.9729 0.19363 0.2673:0.1417:0.5911:0.0 . 208 Q6NSX1 CCD70_HUMAN R 208 ENSP00000242819:G208R ENSP00000242819:G208R G + 1 0 CCDC70 51338137 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 0.243000 0.18106 -0.248000 0.09583 -1.327000 0.01280 GGA CCDC70-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045033.2 + ENST00000242819.4 Missense_Mutation SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF TRIO 7204 broad.mit.edu 37 5 14287075 14287075 + Missense_Mutation SNP C C G TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr5:14287075C>G ENST00000344204.4 + 4.0 467 c.443C>G c.(442-444)tCc>tGc p.S148C TRIO_ENST00000509967.2_Missense_Mutation_p.S99C|TRIO_ENST00000537187.1_Missense_Mutation_p.S148C NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 148.0 CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}. apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185) cytosol (GO:0005829) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) 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) 118.0 Lung NSC(4;0.000742) CTGCAGGAGTCCTTCCCCTGC 0.522 0 102.0 97.0 98.0 5 14287075.0 2203.0 4300.0 6503.0 SO:0001583 missense AF091395 CCDS3883.1 5p14-p15.1 2013-01-11 2012-07-12 ENSG00000038382 ENSG00000038382 7204.0 7204.0 """Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing""" 12303.0 protein-coding gene gene with protein product 601893.0 """triple functional domain (PTPRF interacting)""" 8643598 Standard NM_007118 NM_007118 Approved ARHGEF23 uc003jff.3 O75962 OTTHUMG00000131057 ENST00000344204.4:c.443C>G 5.__UNKNOWN__:g.14287075C>G ENSP00000339299:p.Ser148Cys D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8 __UNKNOWN__ CCDS3883.1 . . . . . . . . . . C 18.14 3.558245 0.65538 . . ENSG00000038382 ENST00000344204;ENST00000537187;ENST00000509967 D;D;D 0.84516 -1.86;-1.86;-1.86 5.64 5.64 0.86602 Cellular retinaldehyde-binding/triple function, C-terminal (4); 0.000000 0.85682 D 0.000000 D 0.88672 0.6500 L 0.28649 0.875 0.80722 D 1 B;D 0.76494 0.03;0.999 B;D 0.85130 0.037;0.997 D 0.87496 0.2430 10 0.37606 T 0.19 . 19.7123 0.96100 0.0:1.0:0.0:0.0 . 99;148 F5H228;O75962 .;TRIO_HUMAN C 148;148;99 ENSP00000339299:S148C;ENSP00000446348:S148C;ENSP00000445592:S99C ENSP00000339299:S148C S + 2 0 TRIO 14340075 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.818000 0.86416 2.664000 0.90586 0.650000 0.86243 TCC TRIO-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253711.2 + ENST00000344204.4 Missense_Mutation SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF ARHGAP10 79658 broad.mit.edu 37 4 148787930 148787930 + Missense_Mutation SNP A A G rs145720035 TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr4:148787930A>G ENST00000336498.3 + 7.0 904 c.665A>G c.(664-666)aAt>aGt p.N222S NM_024605.3 NP_078881.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 10 0.0 establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165) cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) GTPase activator activity (GO:0005096) autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33.0 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) AAAGACTTCAATCACTACAAA 0.343 OREG0016355 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 118.0 111.0 113.0 4 148787930.0 2203.0 4300.0 6503.0 SO:0001583 missense BC047914 CCDS34075.1 4q31.23 2013-09-20 ENSG00000071205 ENSG00000071205 79658.0 79658.0 """Rho GTPase activating proteins""" 26099.0 protein-coding gene gene with protein product 609746.0 8288572 Standard NM_024605 NM_024605 Approved FLJ20896, FLJ41791, GRAF2 uc003ilf.3 A1A4S6 OTTHUMG00000161460 ENST00000336498.3:c.665A>G 4.__UNKNOWN__:g.148787930A>G ENSP00000336923:p.Asn222Ser 1720.0 Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3 __UNKNOWN__ CCDS34075.1 . . . . . . . . . . A 7.380 0.628645 0.14257 . . ENSG00000071205 ENST00000336498 T 0.03920 3.76 6.17 5.0 0.66597 . 0.238952 0.49305 D 0.000142 T 0.02230 0.0069 N 0.04203 -0.255 0.80722 D 1 B 0.12630 0.006 B 0.08055 0.003 T 0.44651 -0.9314 10 0.08837 T 0.75 . 9.0259 0.36230 0.8591:0.0:0.1409:0.0 . 222 A1A4S6 RHG10_HUMAN S 222 ENSP00000336923:N222S ENSP00000336923:N222S N + 2 0 ARHGAP10 149007380 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 3.210000 0.51129 1.165000 0.42670 0.533000 0.62120 AAT ARHGAP10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000365005.1 + ENST00000336498.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF IGFBP1 3484 broad.mit.edu 37 7 45928276 45928276 + Missense_Mutation SNP G G T rs111255251 byFrequency TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr7:45928276G>T ENST00000468955.1 + 1.0 181 c.25G>T c.(25-27)Gtc>Ttc p.V9F IGFBP1_ENST00000275525.3_Missense_Mutation_p.V9F|IGFBP1_ENST00000457280.1_Missense_Mutation_p.V9F P08833 IBP1_HUMAN insulin-like growth factor binding protein 1 9.0 activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246) extracellular region (GO:0005576)|extracellular space (GO:0005615) insulin-like growth factor binding (GO:0005520) large_intestine(2)|lung(4) 6.0 CGTTGCTCGCGTCTGGCTGGT 0.706 0 G PHE/VAL 25,4379 1,23,2178 22.0 26.0 25.0 25 -8.1 0.0 7 dbSNP_132 25.0 0,8598 0,0,4299 yes missense IGFBP1 NM_000596.2 50 1,23,6477 TT,TG,GG 0.0,0.5677,0.1923 benign 9/260 45928276.0 25,12977 2202.0 4299.0 6501.0 SO:0001583 missense CCDS5504.1 7p12.3 2014-09-16 ENSG00000146678 ENSG00000146678 3484.0 3484.0 5469.0 protein-coding gene gene with protein product """placental protein 12"", ""amniotic fluid binding protein"", ""alpha-pregnancy-associated endometrial globulin"", ""growth hormone independent-binding protein"", ""binding protein-28"", ""binding protein-26"", ""binding protein-25"", ""IGF-binding protein 1""" 146730.0 IBP1 2461294 Standard NM_000596 NM_000596 Approved IGF-BP25, AFBP, hIGFBP-1, PP12 uc003tnp.3 P08833 OTTHUMG00000152343 ENST00000468955.1:c.25G>T 7.__UNKNOWN__:g.45928276G>T ENSP00000417069:p.Val9Phe A4D2F4|D3DVL9|Q8IYP5 __UNKNOWN__ . . . . . . . . . . g 13.99 2.400743 0.42613 0.005677 0.0 ENSG00000146678 ENST00000275525;ENST00000457280;ENST00000468955 T;T;T 0.29142 1.58;1.58;2.69 4.93 -8.15 0.01065 . 2.132160 0.01709 N 0.027639 T 0.10594 0.0259 L 0.27053 0.805 0.09310 N 1 B;B;B 0.31485 0.325;0.325;0.325 B;B;B 0.25614 0.062;0.062;0.062 T 0.12734 -1.0536 10 0.40728 T 0.16 1.0952 1.7482 0.02967 0.1456:0.2916:0.2028:0.36 . 9;9;9 C9J6H2;P08833;C9JXF9 .;IBP1_HUMAN;. F 9 ENSP00000275525:V9F;ENSP00000413511:V9F;ENSP00000417069:V9F ENSP00000275525:V9F V + 1 0 IGFBP1 45894801 0.000000 0.05858 0.000000 0.03702 0.008000 0.06430 -0.215000 0.09279 -0.888000 0.03956 0.645000 0.84053 GTC IGFBP1-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000353840.1 + ENST00000468955.1 Missense_Mutation SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF TPI1 7167 broad.mit.edu 37 12 6976729 6976729 + Missense_Mutation SNP C C T TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr12:6976729C>T ENST00000396705.5 + 0.0 35 TPI1_ENST00000229270.4_Missense_Mutation_p.A37V NM_000365.5 NP_000356.1 P60174 TPIS_HUMAN triosephosphate isomerase 1 carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) triose-phosphate isomerase activity (GO:0004807) endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2) 19.0 GGCTCCAGCGCCATGGCGCCC 0.642 0 13.0 17.0 15.0 12 6976729.0 2197.0 4298.0 6495.0 SO:0001623 5_prime_UTR_variant CCDS8566.1, CCDS53740.1, CCDS58206.1 12p13.31 2012-10-02 ENSG00000111669 ENSG00000111669 7167.0 7167.0 5.3.1.1 12009.0 protein-coding gene gene with protein product 190450.0 Standard NM_000365 NM_000365 Approved uc001qrk.4 P60174 OTTHUMG00000133767 ENST00000396705.5:c.-2C>T 12.__UNKNOWN__:g.6976729C>T B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5 __UNKNOWN__ CCDS8566.1 . . . . . . . . . . C 13.81 2.347273 0.41599 . . ENSG00000111669 ENST00000229270 . . . 5.22 5.22 0.72569 . . . . . T 0.41328 0.1154 N 0.12569 0.235 0.80722 D 1 . . . . . . T 0.35943 -0.9768 6 0.35671 T 0.21 . 11.8356 0.52321 0.0:0.9187:0.0:0.0813 . . . . V 37 . ENSP00000229270:A37V A + 2 0 TPI1 6846990 0.001000 0.12720 0.154000 0.22540 0.090000 0.18270 1.297000 0.33400 2.415000 0.81967 0.542000 0.68232 GCC TPI1-008 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000471023.1 + ENST00000396705.5 5'UTR SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF POSTN 10631 broad.mit.edu 37 13 38160280 38160280 + Silent SNP G G T TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr13:38160280G>T ENST00000379747.4 - 7.0 1008 c.891C>A c.(889-891)tcC>tcA p.S297S POSTN_ENST00000379742.4_Silent_p.S297S|POSTN_ENST00000541179.1_Silent_p.S297S|POSTN_ENST00000379743.4_Silent_p.S297S|POSTN_ENST00000541481.1_Silent_p.S297S|POSTN_ENST00000379749.4_Silent_p.S297S NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 297.0 FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}. cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888) proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802) heparin binding (GO:0008201) 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) 59.0 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) AACTACCTTCGGAAGCCACTT 0.423 0 88.0 89.0 89.0 13 38160280.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D13665 CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1 13q13.3 2008-02-05 ENSG00000133110 ENSG00000133110 10631.0 10631.0 16953.0 protein-coding gene gene with protein product 608777.0 8363580, 12235007 Standard NM_006475 NM_006475 Approved OSF-2, PN, periostin uc001uwo.4 Q15063 OTTHUMG00000016751 ENST00000379747.4:c.891C>A 13.__UNKNOWN__:g.38160280G>T B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9 __UNKNOWN__ CCDS9364.1 POSTN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000044566.2 - ENST00000379747.4 Silent SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF RGL4 266747 broad.mit.edu 37 22 24034583 24034583 + Missense_Mutation SNP C C A TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr22:24034583C>A ENST00000401461.1 + 0.0 946 GUSBP11_ENST00000455485.1_RNA|AP000347.2_ENST00000417194.1_RNA|RGL4_ENST00000290691.5_Missense_Mutation_p.P81T|KB-1572G7.2_ENST00000421064.1_RNA Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation stimulator-like 4 small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410) guanyl-nucleotide exchange factor activity (GO:0005085) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3) 15.0 CTATCAGCCCCCGCAACGGTC 0.547 0 185.0 181.0 183.0 22 24034583.0 2203.0 4300.0 6503.0 SO:0001623 5_prime_UTR_variant CCDS13811.1 22q11.23 2008-02-22 ENSG00000159496 ENSG00000159496 266747.0 266747.0 31911.0 protein-coding gene gene with protein product """RalGDS related oncogene""" 612214.0 9178890, 10851075 Standard NM_153615 NM_153615 Approved Rgr uc002zxn.3 Q8IZJ4 OTTHUMG00000150711 ENST00000401461.1:c.-168C>A 22.__UNKNOWN__:g.24034583C>A Q495L8 __UNKNOWN__ . . . . . . . . . . c 7.805 0.714440 0.15306 . . ENSG00000159496 ENST00000290691;ENST00000382833;ENST00000423392 T;T 0.34275 1.37;1.37 1.92 0.882 0.19172 . 0.350746 0.20489 U 0.091322 T 0.17534 0.0421 N 0.24115 0.695 0.09310 N 1 B;B 0.33694 0.421;0.002 B;B 0.26770 0.073;0.007 T 0.13124 -1.0521 10 0.25751 T 0.34 . 6.3999 0.21632 0.0:0.8301:0.0:0.1699 . 81;81 E9PH87;Q8IZJ4 .;RGDSR_HUMAN T 81 ENSP00000290691:P81T;ENSP00000402142:P81T ENSP00000290691:P81T P + 1 0 RGL4 22364583 0.994000 0.37717 0.000000 0.03702 0.001000 0.01503 3.162000 0.50755 0.370000 0.24538 0.543000 0.68304 CCG RGL4-003 PUTATIVE not_organism_supported|basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000319712.2 + ENST00000401461.1 5'UTR SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF ATP12A 479 broad.mit.edu 37 13 25268673 25268673 + Missense_Mutation SNP G G A TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr13:25268673G>A ENST00000381946.3 + 11.0 1636 c.1469G>A c.(1468-1470)cGc>cAc p.R490H ATP12A_ENST00000218548.6_Missense_Mutation_p.R496H P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 490.0 ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872) p.R490H(1) breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74.0 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) AAAAGAAACCGCAAAGTAGCT 0.393 OREG0022298 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) Pancreas(156;1582 1935 18898 22665 26498) 1 Substitution - Missense(1) large_intestine(1) 120.0 129.0 126.0 13 25268673.0 2203.0 4300.0 6503.0 SO:0001583 missense L42558 CCDS31948.1, CCDS53858.1 13q11-q12.1 2010-04-20 2002-02-25 ENSG00000075673 ENSG00000075673 479.0 479.0 3.6.3.10 """ATPases / P-type""" 13816.0 protein-coding gene gene with protein product """ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like""" 182360.0 """ATPase, Na+/K+ transporting, alpha polypeptide-like 1""" ATP1AL1 8838794, 2842249 Standard NM_001676 NM_001676 Approved uc010aaa.3 P54707 OTTHUMG00000016588 ENST00000381946.3:c.1469G>A 13.__UNKNOWN__:g.25268673G>A ENSP00000371372:p.Arg490His 777.0 Q13816|Q13817|Q16734|Q5W035|Q8N5U2 __UNKNOWN__ CCDS31948.1 . . . . . . . . . . G 12.81 2.049971 0.36181 . . ENSG00000075673 ENST00000218548;ENST00000381946 T;T 0.79749 -1.3;-1.3 5.55 -1.36 0.09085 ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1); 0.667409 0.13957 N 0.351123 T 0.63058 0.2479 N 0.22421 0.69 0.09310 N 0.999993 B;B 0.12013 0.005;0.002 B;B 0.10450 0.005;0.003 T 0.50101 -0.8867 10 0.46703 T 0.11 . 5.3183 0.15868 0.4498:0.2646:0.2855:0.0 . 496;490 P54707-2;P54707 .;AT12A_HUMAN H 496;490 ENSP00000218548:R496H;ENSP00000371372:R490H ENSP00000218548:R496H R + 2 0 ATP12A 24166673 0.000000 0.05858 0.989000 0.46669 0.995000 0.86356 -0.464000 0.06688 -0.285000 0.09089 0.563000 0.77884 CGC ATP12A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044199.1 + ENST00000381946.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF MC3R 4159 broad.mit.edu 37 20 54824371 54824371 + Missense_Mutation SNP G G A TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr20:54824371G>A ENST00000243911.2 + 1.0 584 c.472G>A c.(472-474)Gtg>Atg p.V158M NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 158.0 adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046) breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26.0 Colorectal(105;0.202) CATCATGACCGTGAGGAAGGC 0.587 0 G MET/VAL 1,4405 2.1+/-5.4 0,1,2202 208.0 189.0 195.0 472 5.2 0.0 20 195.0 0,8600 0,0,4300 no missense MC3R NM_019888.3 21 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 benign 158/324 54824371.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense CCDS13449.2 20q13.2-q13.3 2012-08-10 ENSG00000124089 ENSG00000124089 4159.0 4159.0 """GPCR / Class A : Melanocortin receptors""" 6931.0 protein-coding gene gene with protein product 155540.0 8463333 Standard NM_019888 Approved MC3 uc002xxb.2 P41968 OTTHUMG00000032785 ENST00000243911.2:c.472G>A 20.__UNKNOWN__:g.54824371G>A ENSP00000243911:p.Val158Met Q4KN27|Q9H517 __UNKNOWN__ CCDS13449.2 . . . . . . . . . . G 17.71 3.456152 0.63401 2.27E-4 0.0 ENSG00000124089 ENST00000243911 T 0.72394 -0.65 5.21 5.21 0.72293 GPCR, rhodopsin-like superfamily (1); 0.091941 0.41938 D 0.000788 T 0.78566 0.4303 L 0.37800 1.135 0.37660 D 0.922742 D 0.76494 0.999 D 0.69824 0.966 T 0.82354 -0.0499 10 0.62326 D 0.03 . 18.3858 0.90466 0.0:0.0:1.0:0.0 . 195 P41968 MC3R_HUMAN M 158 ENSP00000243911:V158M ENSP00000243911:V158M V + 1 0 MC3R 54257778 1.000000 0.71417 0.027000 0.17364 0.885000 0.51271 5.218000 0.65257 2.423000 0.82170 0.650000 0.86243 GTG MC3R-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079786.2 + ENST00000243911.2 Missense_Mutation SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF DENND4A 10260 broad.mit.edu 37 15 65956953 65956953 + Missense_Mutation SNP G G A TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr15:65956953G>A ENST00000431932.2 - 30.0 5543 c.5335C>T c.(5335-5337)Cca>Tca p.P1779S DENND4A_ENST00000443035.3_Missense_Mutation_p.P1822S NM_005848.3 NP_005839.3 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 1779.0 positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112) 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) 51.0 TGACTCATTGGTCCATAGACA 0.333 0 101.0 95.0 97.0 15 65956953.0 1830.0 4082.0 5912.0 SO:0001583 missense AF534403 CCDS45285.1, CCDS53949.1 15q22.31 2012-10-03 2006-01-27 2006-01-27 10260.0 10260.0 """DENN/MADD domain containing""" 24321.0 protein-coding gene gene with protein product 600382.0 """c-myc promoter binding protein""" MYCPBP 8056341, 12906859 Standard NM_005848 NM_005848 Approved IRLB uc002api.3 Q7Z401 ENST00000431932.2:c.5335C>T 15.__UNKNOWN__:g.65956953G>A ENSP00000396830:p.Pro1779Ser E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93 __UNKNOWN__ CCDS45285.1 . . . . . . . . . . G 23.5 4.426282 0.83667 . . ENSG00000174485 ENST00000443035;ENST00000431932 T;T 0.08282 3.12;3.11 5.53 5.53 0.82687 . 0.000000 0.85682 D 0.000000 T 0.34135 0.0887 M 0.80183 2.485 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.87578 0.998;0.998 T 0.06516 -1.0822 10 0.72032 D 0.01 . 19.4665 0.94945 0.0:0.0:1.0:0.0 . 1822;1779 E7EPL3;Q7Z401 .;MYCPP_HUMAN S 1822;1779 ENSP00000391167:P1822S;ENSP00000396830:P1779S ENSP00000396830:P1779S P - 1 0 DENND4A 63744007 1.000000 0.71417 0.998000 0.56505 0.860000 0.49131 9.230000 0.95299 2.591000 0.87537 0.555000 0.69702 CCA DENND4A-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000419611.1 - ENST00000431932.2 Missense_Mutation SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF CA10 56934 broad.mit.edu 37 17 50212251 50212251 + Missense_Mutation SNP C C T TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr17:50212251C>T ENST00000285273.4 - 2.0 1173 CA10_ENST00000451037.2_Intron|CA10_ENST00000442502.2_Intron|CA10_ENST00000570565.1_Intron|CA10_ENST00000340813.6_Missense_Mutation_p.V23M NM_001082533.1 NP_001076002.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X brain development (GO:0007420) 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) 41.0 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) Zonisamide(DB00909) ttctccctcacccccaccata 0.562 0 117.0 101.0 106.0 17 50212251.0 876.0 1991.0 2867.0 SO:0001627 intron_variant AF288385 CCDS32684.1 17q21 2012-08-21 ENSG00000154975 ENSG00000154975 56934.0 56934.0 """Carbonic anhydrases""" 1369.0 protein-coding gene gene with protein product 604642.0 8673298, 9921901 Standard NM_020178 NM_020178 Approved CARPX, CA-RPX, HUCEP-15 uc002itx.4 Q9NS85 OTTHUMG00000177544 ENST00000285273.4:c.61+22834G>A 17.__UNKNOWN__:g.50212251C>T B2R7J0|B4DGL6 __UNKNOWN__ CCDS32684.1 . . . . . . . . . . C 9.831 1.188339 0.21954 . . ENSG00000154975 ENST00000340813 T 0.71698 -0.59 3.24 -4.75 0.03239 . 0.267225 0.19898 N 0.103573 T 0.39733 0.1089 . . . 0.09310 N 1 P 0.39831 0.69 B 0.25291 0.059 T 0.43393 -0.9394 8 . . . . 4.6893 0.12772 0.566:0.2378:0.0:0.1962 . 23 Q68D28 . M 23 ENSP00000340363:V23M . V - 1 0 CA10 47567250 0.000000 0.05858 0.000000 0.03702 0.065000 0.16274 -2.702000 0.00823 -1.006000 0.03412 -0.140000 0.14226 GTG CA10-003 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000437480.1 - ENST00000285273.4 Intron SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF PIM2 11040 broad.mit.edu 37 X 48776050 48776050 + Splice_Site SNP C C T TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chrX:48776050C>T ENST00000376509.4 - 1.0 251 c.e1+1 NM_006875.3 NP_006866.2 Q9P1W9 PIM2_HUMAN Pim-2 proto-oncogene, serine/threonine kinase apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) lung(3)|stomach(1) 4.0 GATGTACTCACCTGGCGGCGG 0.697 0 15.0 19.0 18.0 X 48776050.0 2192.0 4271.0 6463.0 SO:0001630 splice_region_variant U77735 CCDS14312.1 Xp11.23 2014-06-25 2014-06-25 ENSG00000102096 ENSG00000102096 11040.0 11040.0 8987.0 protein-coding gene gene with protein product 300295.0 """pim-2 oncogene""" 9804974 Standard NM_006875 Approved uc004dls.3 Q9P1W9 OTTHUMG00000024132 ENST00000376509.4:c.61+1G>A X.__UNKNOWN__:g.48776050C>T A8K4G6|Q99739 __UNKNOWN__ CCDS14312.1 . . . . . . . . . . C 11.54 1.669714 0.29693 . . ENSG00000102096 ENST00000376509 . . . 4.25 4.25 0.50352 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 11.1022 0.48182 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . PIM2 48660994 1.000000 0.71417 1.000000 0.80357 0.241000 0.25554 2.587000 0.46128 2.092000 0.63282 0.544000 0.68410 . PIM2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060805.1 Intron - ENST00000376509.4 Splice_Site SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF MATN2 4147 broad.mit.edu 37 8 98943421 98943421 + Missense_Mutation SNP G G A TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr8:98943421G>A ENST00000521689.1 + 3.0 857 c.383G>A c.(382-384)cGg>cAg p.R128Q MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.R128Q|MATN2_ENST00000524308.1_Missense_Mutation_p.R128Q|MATN2_ENST00000254898.5_Missense_Mutation_p.R128Q O00339 MATN2_HUMAN matrilin 2 128.0 VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}. proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31.0 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) AAGAGGATGCGGCATCTGTCC 0.587 0 54.0 59.0 57.0 8 98943421.0 2129.0 4252.0 6381.0 SO:0001583 missense U69263 CCDS55264.1, CCDS55265.1 8q22.1-q22.2 2008-05-15 4147.0 4147.0 6908.0 protein-coding gene gene with protein product 602108.0 9083061, 11852232 Standard XM_005250920 Approved uc003yic.3 O00339 ENST00000521689.1:c.383G>A 8.__UNKNOWN__:g.98943421G>A ENSP00000429977:p.Arg128Gln A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1 __UNKNOWN__ CCDS55265.1 . . . . . . . . . . G 14.98 2.696510 0.48202 . . ENSG00000132561 ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016 T;T;T;T 0.78003 -1.14;-1.14;-1.14;-1.14 5.97 4.03 0.46877 von Willebrand factor, type A (3); 0.081678 0.51477 D 0.000095 T 0.55321 0.1913 N 0.02721 -0.515 0.27765 N 0.943701 P;P;D;P 0.58620 0.946;0.933;0.983;0.938 P;P;P;B 0.48921 0.584;0.551;0.595;0.345 T 0.50294 -0.8845 10 0.16420 T 0.52 -22.3411 7.0398 0.25013 0.0874:0.0:0.5924:0.3202 . 128;128;128;128 E9PF03;O00339-2;O00339;Q8N2G3 .;.;MATN2_HUMAN;. Q 128 ENSP00000429977:R128Q;ENSP00000254898:R128Q;ENSP00000430221:R128Q;ENSP00000430487:R128Q ENSP00000254898:R128Q R + 2 0 MATN2 99012597 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 1.998000 0.40796 2.836000 0.97738 0.655000 0.94253 CGG MATN2-001 KNOWN non_canonical_conserved|basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000380327.1 + ENST00000521689.1 Missense_Mutation SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF ZNF613 79898 broad.mit.edu 37 19 52447915 52447915 + Missense_Mutation SNP A A G TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr19:52447915A>G ENST00000293471.6 + 6.0 1458 c.779A>G c.(778-780)tAt>tGt p.Y260C ZNF613_ENST00000391794.4_Missense_Mutation_p.Y224C NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 260.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19.0 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) GAGAAACCCTATGAATGCACT 0.453 0 84.0 91.0 88.0 19 52447915.0 2203.0 4300.0 6503.0 SO:0001583 missense AK027565 CCDS12844.1, CCDS33089.1 19q13.41 2013-01-08 79898.0 79898.0 """Zinc fingers, C2H2-type"", ""-""" 25827.0 protein-coding gene gene with protein product 12477932 Standard NM_024840 NM_001031721 Approved FLJ13590 uc002pxz.2 Q6PF04 ENST00000293471.6:c.779A>G 19.__UNKNOWN__:g.52447915A>G ENSP00000293471:p.Tyr260Cys Q96SS9 __UNKNOWN__ CCDS33089.1 . . . . . . . . . . A 9.267 1.044787 0.19748 . . ENSG00000176024 ENST00000293471;ENST00000391794 T;T 0.25414 1.8;1.8 3.1 2.05 0.26809 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.30649 N 0.009163 T 0.45617 0.1351 M 0.78223 2.4 0.09310 N 1 D 0.89917 1.0 D 0.76575 0.988 T 0.23691 -1.0181 10 0.87932 D 0 . 6.7455 0.23458 0.4545:0.0:0.0:0.5455 . 260 Q6PF04 ZN613_HUMAN C 260;224 ENSP00000293471:Y260C;ENSP00000375671:Y224C ENSP00000293471:Y260C Y + 2 0 ZNF613 57139727 0.000000 0.05858 0.005000 0.12908 0.475000 0.33008 0.152000 0.16302 0.382000 0.24878 0.533000 0.62120 TAT ZNF613-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000461104.2 + ENST00000293471.6 Missense_Mutation SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF RCBTB2 1102 broad.mit.edu 37 13 49076986 49076986 + Missense_Mutation SNP C C T TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr13:49076986C>T ENST00000344532.3 - 11.0 1414 c.991G>A c.(991-993)Gtg>Atg p.V331M RCBTB2_ENST00000544904.1_Missense_Mutation_p.R259H|RCBTB2_ENST00000544492.1_Missense_Mutation_p.V57M|RCBTB2_ENST00000430805.2_Missense_Mutation_p.V336M NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 331.0 positive regulation of Ran GTPase activity (GO:0032853) acrosomal vesicle (GO:0001669) Ran guanyl-nucleotide exchange factor activity (GO:0005087) p.V331M(1) breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31.0 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) CACATGTACACGTGCCCACCC 0.582 1 Substitution - Missense(1) endometrium(1) C MET/VAL 0,4406 0,0,2203 112.0 80.0 91.0 991 4.0 1.0 13 91.0 1,8599 1.2+/-3.3 0,1,4299 no missense RCBTB2 NM_001268.2 21 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 probably-damaging 331/552 49076986.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AF060219 CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1 13q14.3 2013-01-08 2005-05-09 2005-05-09 ENSG00000136161 ENSG00000136161 1102.0 1102.0 """BTB/POZ domain containing""" 1914.0 protein-coding gene gene with protein product 603524.0 """chromosome condensation 1-like""" CHC1L 9806834 Standard NM_001268 XM_005266242 Approved uc001vch.3 O95199 OTTHUMG00000016902 ENST00000344532.3:c.991G>A 13.__UNKNOWN__:g.49076986C>T ENSP00000345144:p.Val331Met B2RDW8 __UNKNOWN__ CCDS9411.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 28.3|28.3 4.912082|4.912082 0.92178|0.92178 0.0|0.0 1.16E-4|1.16E-4 ENSG00000136161|ENSG00000136161 ENST00000544904|ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492 T|D;D;D 0.49720|0.85556 0.77|-1.83;-1.83;-2.0 5.73|5.73 3.97|3.97 0.46021|0.46021 .|Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2); .|0.112079 .|0.64402 .|D .|0.000009 D|D 0.90731|0.90731 0.7091|0.7091 M|M 0.79475|0.79475 2.455|2.455 0.29447|0.29447 N|N 0.858755|0.858755 B|D;D;P;D 0.06786|0.76494 0.001|0.997;0.997;0.943;0.999 B|D;D;B;D 0.01281|0.63488 0.0|0.915;0.915;0.437;0.915 D|D 0.87201|0.87201 0.2241|0.2241 9|10 0.35671|0.59425 T|D 0.21|0.04 .|. 13.1552|13.1552 0.59514|0.59514 0.0:0.8637:0.0:0.1363|0.0:0.8637:0.0:0.1363 .|. 259|57;336;283;331 B4DPP7|B4E372;B4DWG0;B3KVB1;O95199 .|.;.;.;RCBT2_HUMAN H|M 259|331;283;336;336;57 ENSP00000443904:R259H|ENSP00000345144:V331M;ENSP00000389910:V336M;ENSP00000443862:V57M ENSP00000443904:R259H|ENSP00000345144:V331M R|V -|- 2|1 0|0 RCBTB2|RCBTB2 47974987|47974987 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.997000|0.997000 0.91878|0.91878 4.619000|4.619000 0.61218|0.61218 1.553000|1.553000 0.49476|0.49476 0.557000|0.557000 0.71058|0.71058 CGT|GTG RCBTB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044888.2 - ENST00000344532.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF OR4K2 390431 broad.mit.edu 37 14 20345163 20345163 + Missense_Mutation SNP T T C TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr14:20345163T>C ENST00000298642.2 + 1.0 773 c.737T>C c.(736-738)gTt>gCt p.V246A NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 246.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43.0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATTTCATTGTTGTCTTCTTG 0.383 0 216.0 201.0 206.0 14 20345163.0 2203.0 4299.0 6502.0 SO:0001583 missense CCDS32023.1 14q11.2 2013-09-23 ENSG00000165762 ENSG00000165762 390431.0 390431.0 """GPCR / Class A : Olfactory receptors""" 14728.0 protein-coding gene gene with protein product Standard NM_001005501 Approved uc001vwh.1 Q8NGD2 OTTHUMG00000170624 ENST00000298642.2:c.737T>C 14.__UNKNOWN__:g.20345163T>C ENSP00000298642:p.Val246Ala B2RNK8|Q6IFA5 __UNKNOWN__ CCDS32023.1 . . . . . . . . . . . 18.42 3.621177 0.66787 . . ENSG00000165762 ENST00000298642 T 0.00237 8.47 5.16 3.99 0.46301 GPCR, rhodopsin-like superfamily (1); 0.000000 0.44688 D 0.000435 T 0.00384 0.0012 M 0.64170 1.965 0.31894 N 0.616816 P 0.45902 0.868 P 0.59012 0.85 T 0.47302 -0.9128 10 0.87932 D 0 . 9.469 0.38831 0.1585:0.0:0.0:0.8415 . 246 Q8NGD2 OR4K2_HUMAN A 246 ENSP00000298642:V246A ENSP00000298642:V246A V + 2 0 OR4K2 19415003 0.659000 0.27411 0.998000 0.56505 0.930000 0.56654 1.494000 0.35616 0.942000 0.37525 0.482000 0.46254 GTT OR4K2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000409864.1 + ENST00000298642.2 Missense_Mutation SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF DLG5 9231 broad.mit.edu 37 10 79584220 79584220 + Silent SNP T T C TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr10:79584220T>C ENST00000372391.2 - 14.0 2309 c.2304A>G c.(2302-2304)gcA>gcG p.A768A DLG5_ENST00000372388.2_Silent_p.A768A NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 768.0 PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}. apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186) cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886) beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159) p.A768A(1) 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) 60.0 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) TGTTGTCCAGTGCAATGCCAT 0.567 1 Substitution - coding silent(1) lung(1) 90.0 65.0 74.0 10 79584220.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U61843 CCDS7353.2 10q23 2008-07-09 2001-11-28 ENSG00000151208 ENSG00000151208 9231.0 9231.0 2904.0 protein-coding gene gene with protein product 604090.0 """discs, large (Drosophila) homolog 5""" 9738934 Standard XM_005270276 Approved P-dlg, KIAA0583 uc001jzk.3 Q8TDM6 OTTHUMG00000018548 ENST00000372391.2:c.2304A>G 10.__UNKNOWN__:g.79584220T>C A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3 __UNKNOWN__ CCDS7353.2 DLG5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048900.2 - ENST00000372391.2 Silent SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF PLEKHG1 57480 broad.mit.edu 37 6 151161960 151161960 + Silent SNP T T A TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr6:151161960T>A ENST00000358517.2 + 16.0 4297 c.4086T>A c.(4084-4086)tcT>tcA p.S1362S PLEKHG1_ENST00000367328.1_Silent_p.S1362S Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 1362.0 Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53.0 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GGGGGCCATCTCCCAATCAAC 0.393 0 82.0 83.0 83.0 6 151161960.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB033035 CCDS34552.1 6q25.1 2013-01-11 ENSG00000120278 ENSG00000120278 57480.0 57480.0 """Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing""" 20884.0 protein-coding gene gene with protein product 10574462 Standard XM_005267064 Approved KIAA1209, ARHGEF41 uc003qny.1 Q9ULL1 OTTHUMG00000015824 ENST00000358517.2:c.4086T>A 6.__UNKNOWN__:g.151161960T>A Q5T1F2 __UNKNOWN__ CCDS34552.1 PLEKHG1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042691.1 + ENST00000358517.2 Silent SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF CUL4B 8450 broad.mit.edu 37 X 119672576 119672576 + Silent SNP C C A TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chrX:119672576C>A ENST00000371322.5 - 13.0 1852 c.1791G>T c.(1789-1791)ctG>ctT p.L597L CUL4B_ENST00000404115.3_Silent_p.L615L|CUL4B_ENST00000336592.6_Silent_p.L602L NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 615.0 cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914) Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886) 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) 36.0 TTCCGACTAACAGGCGCTTGG 0.348 0 107.0 106.0 106.0 X 119672576.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U58091 CCDS35379.1, CCDS43987.1 Xq23 2011-05-24 ENSG00000158290 ENSG00000158290 8450.0 8450.0 2555.0 protein-coding gene gene with protein product 300304.0 8681378 Standard NM_003588 NM_003588 Approved uc004esw.3 Q13620 OTTHUMG00000022302 ENST00000371322.5:c.1791G>T X.__UNKNOWN__:g.119672576C>A B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7 __UNKNOWN__ CCDS43987.1 CUL4B-003 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058105.1 - ENST00000371322.5 Silent SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF UBA7 7318 broad.mit.edu 37 3 49848257 49848257 + Silent SNP G G A TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr3:49848257G>A ENST00000333486.3 - 11.0 1397 c.1239C>T c.(1237-1239)agC>agT p.S413S NM_003335.2 NP_003326.2 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 413.0 2 approximate repeats. cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567) cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33.0 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CATCATAGCGGCTGCCTCTCT 0.557 0 70.0 75.0 73.0 3 49848257.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC006378 CCDS2805.1 3p21 2007-11-30 2007-11-30 2007-11-30 ENSG00000182179 ENSG00000182179 7318.0 7318.0 """Ubiquitin-like modifier activating enzymes""" 12471.0 protein-coding gene gene with protein product """UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1""" 191325.0 """ubiquitin-activating enzyme E1-like""" UBE1L 8327486 Standard NM_003335 NM_003335 Approved D8, UBE2, UBA1B uc003cxr.3 P41226 OTTHUMG00000158267 ENST00000333486.3:c.1239C>T 3.__UNKNOWN__:g.49848257G>A Q9BRB2 __UNKNOWN__ CCDS2805.1 UBA7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350503.1 - ENST00000333486.3 Silent SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF PAN3 255967 broad.mit.edu 37 13 28854620 28854620 + Missense_Mutation SNP A A T TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr13:28854620A>T ENST00000380958.3 + 16.0 2413 c.2261A>T c.(2260-2262)tAt>tTt p.Y754F PAN3_ENST00000282391.5_Missense_Mutation_p.Y442F|PAN3_ENST00000399613.1_Missense_Mutation_p.Y554F NM_175854.7 NP_787050.6 PAN3 poly(A) specific ribonuclease subunit endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24.0 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) GCTCGATTTTATACTCAATTG 0.343 0 124.0 107.0 113.0 13 28854620.0 2203.0 4300.0 6503.0 SO:0001583 missense AK091307 CCDS9329.1, CCDS9329.2 13q12.2 2014-03-27 2014-03-27 ENSG00000152520 ENSG00000152520 255967.0 255967.0 29991.0 protein-coding gene gene with protein product """PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)""" 14583602 Standard NM_175854 NM_175854 Approved uc001urz.3 Q58A45 OTTHUMG00000016645 ENST00000380958.3:c.2261A>T 13.__UNKNOWN__:g.28854620A>T ENSP00000370345:p.Tyr754Phe __UNKNOWN__ CCDS9329.2 . . . . . . . . . . A 22.7 4.329693 0.81690 . . ENSG00000152520 ENST00000380958;ENST00000399613;ENST00000282391 T;T;T 0.42513 0.97;0.97;0.97 5.37 5.37 0.77165 Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.52805 0.1757 L 0.39566 1.225 0.80722 D 1 D;D;D 0.89917 0.999;0.996;1.0 D;D;D 0.83275 0.995;0.99;0.996 T 0.42224 -0.9464 10 0.11794 T 0.64 -13.6789 15.6713 0.77279 1.0:0.0:0.0:0.0 . 754;442;700 Q58A45;Q58A45-2;Q58A45-3 PAN3_HUMAN;.;. F 754;554;442 ENSP00000370345:Y754F;ENSP00000382522:Y554F;ENSP00000282391:Y442F ENSP00000282391:Y442F Y + 2 0 PAN3 27752620 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 9.208000 0.95075 2.166000 0.68216 0.459000 0.35465 TAT PAN3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000044318.4 + ENST00000380958.3 Missense_Mutation SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF ZFHX3 463 broad.mit.edu 37 16 72828227 72828227 + Missense_Mutation SNP A A C TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr16:72828227A>C ENST00000268489.5 - 9.0 9026 c.8354T>G c.(8353-8355)cTc>cGc p.L2785R ZFHX3_ENST00000397992.5_Missense_Mutation_p.L1871R NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2785.0 brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270) 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) 153.0 Ovarian(137;0.13) CACAGGTGAGAGGGGGACACC 0.488 0 77.0 80.0 79.0 16 72828227.0 2198.0 4300.0 6498.0 SO:0001583 missense D10250 CCDS10908.1, CCDS54035.1 16q22.3 2012-03-09 2007-08-09 2007-08-09 ENSG00000140836 ENSG00000140836 463.0 463.0 """Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class""" 777.0 protein-coding gene gene with protein product 104155.0 """AT-binding transcription factor 1""" ATBF1 1719379, 7592926 Standard NM_006885 NM_006885 Approved ZNF927 uc002fck.3 Q15911 OTTHUMG00000137599 ENST00000268489.5:c.8354T>G 16.__UNKNOWN__:g.72828227A>C ENSP00000268489:p.Leu2785Arg D3DWS8|O15101|Q13719 __UNKNOWN__ CCDS10908.1 . . . . . . . . . . A 10.61 1.397303 0.25205 . . ENSG00000140836 ENST00000268489;ENST00000397992 T;T 0.74106 -0.81;-0.79 5.96 5.96 0.96718 . 0.000000 0.45126 D 0.000391 T 0.72455 0.3462 L 0.36672 1.1 0.58432 D 0.999999 D 0.54397 0.966 P 0.50440 0.641 T 0.68648 -0.5353 10 0.18710 T 0.47 . 16.4311 0.83844 1.0:0.0:0.0:0.0 . 2785 Q15911 ZFHX3_HUMAN R 2785;1871 ENSP00000268489:L2785R;ENSP00000438926:L1871R ENSP00000268489:L2785R L - 2 0 ZFHX3 71385728 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 7.515000 0.81761 2.277000 0.76020 0.528000 0.53228 CTC ZFHX3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269008.1 - ENST00000268489.5 Missense_Mutation SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF RHPN2 85415 broad.mit.edu 37 19 33486990 33486990 + Silent SNP G G A rs142685730 TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr19:33486990G>A ENST00000254260.3 - 11.0 1397 c.1362C>T c.(1360-1362)taC>taT p.Y454Y RHPN2_ENST00000400226.4_Silent_p.Y303Y NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 454.0 BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}. signal transduction (GO:0007165) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44.0 Esophageal squamous(110;0.137) GGTGCTGGGCGTACGTGAGCC 0.622 0 G 1,4405 2.1+/-5.4 0,1,2202 83.0 66.0 72.0 1362 0.3 0.2 19 dbSNP_134 72.0 0,8600 0,0,4300 no coding-synonymous RHPN2 NM_033103.4 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 454/687 33486990.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF268032 CCDS12427.1 19q13.12 2008-02-05 ENSG00000131941 85415.0 85415.0 19974.0 protein-coding gene gene with protein product 12221077 Standard NM_033103 NM_033103 Approved uc002nuf.3 Q8IUC4 ENST00000254260.3:c.1362C>T 19.__UNKNOWN__:g.33486990G>A B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1 __UNKNOWN__ CCDS12427.1 RHPN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000450828.2 - ENST00000254260.3 Silent SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF LAMC3 10319 broad.mit.edu 37 9 133927982 133927982 + Frame_Shift_Del DEL G G - TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr9:133927982delG ENST00000361069.4 + 10.0 1868 c.1735delG c.(1735-1737)gggfs p.G579fs LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 579.0 Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}. astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601) basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578) structural molecule activity (GO:0005198) 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) 69.0 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GAGGCTGGAAGGGACAGGCTT 0.647 OREG0019556 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 36.0 41.0 40.0 9 133927982.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant AF041835 CCDS6938.1 9q31-q34 2013-03-01 ENSG00000050555 ENSG00000050555 10319.0 10319.0 """Laminins""" 6494.0 protein-coding gene gene with protein product 604349.0 10225960 Standard NM_006059 NM_006059 Approved DKFZp434E202 uc004caa.1 Q9Y6N6 OTTHUMG00000020819 ENST00000361069.4:c.1735delG 9.__UNKNOWN__:g.133927982delG ENSP00000354360:p.Gly579fs 1606.0 B1APX9|B1APY0|Q59H72 __UNKNOWN__ CCDS6938.1 LAMC3-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054717.3 + ENST00000361069.4 Frame_Shift_Del DEL PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF C1QTNF9B 387911 unc.edu 37 13 24468315 24468315 + Silent SNP C C T rs138844770 byFrequency TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS;RNA-Seq none Illumina HiSeq 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr13:24468315C>T ENST00000382140.2 - 4.0 252 c.192G>A c.(190-192)ccG>ccA p.P64P C1QTNF9B_ENST00000382137.3_Silent_p.P64P|C1QTNF9B_ENST00000382057.3_Silent_p.P64P|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382145.1_Silent_p.P64P|C1QTNF9B-AS1_ENST00000417034.1_RNA B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 64.0 Collagen-like 1. collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062) breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6.0 CATCCTTCCCCGGGCTGCCAG 0.458 0 C 21,4385 0,21,2182 101.0 98.0 99.0 192 -5.4 0.3 13 dbSNP_134 99.0 0,8590 0,0,4295 no coding-synonymous C1QTNF9B NM_001007537.1 0,21,6477 TT,TC,CC 0.0,0.4766,0.1616 64/334 24468315.0 21,12975 2203.0 4295.0 6498.0 SO:0001819 synonymous_variant BC110413 CCDS31947.1 13q12.12 2011-05-08 ENSG00000205863 ENSG00000205863 387911.0 387911.0 34072.0 protein-coding gene gene with protein product 614148 17544811 Standard NM_001007537 NM_001007537 Approved CTRP9B uc010tcv.1 B2RNN3 OTTHUMG00000016570 ENST00000382140.2:c.192G>A 13.__UNKNOWN__:g.24468315C>T A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4 __UNKNOWN__ CCDS31947.1 C1QTNF9B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044162.3 - ENST00000382140.2 Silent SNP PCPG-TCGA-QT-A5XP-Normal-SM-5EQFF SETD1A 9739 broad.mit.edu 37 16 30983037 30983037 + Missense_Mutation SNP G G T TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr16:30983037G>T ENST00000262519.8 + 13.0 4041 c.3355G>T c.(3355-3357)Gca>Tca p.A1119S NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1119.0 Pro-rich. {ECO:0000255}. histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188) histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723) 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) 59.0 AGCAAGGCCTGCAGGTAGGTG 0.577 0 26.0 25.0 25.0 16 30983037.0 2186.0 4268.0 6454.0 SO:0001583 missense AB002337 CCDS32435.1 16p11.2 2013-02-12 ENSG00000099381 ENSG00000099381 9739.0 9739.0 """Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing""" 29010.0 protein-coding gene gene with protein product 611052.0 9205841, 12670868 Standard NM_014712 XM_005255723 Approved KIAA0339, Set1, KMT2F uc002ead.1 O15047 OTTHUMG00000150474 ENST00000262519.8:c.3355G>T 16.__UNKNOWN__:g.30983037G>T ENSP00000262519:p.Ala1119Ser A6NP62|Q6PIF3|Q8TAJ6 __UNKNOWN__ CCDS32435.1 . . . . . . . . . . G 8.698 0.909099 0.17833 . . ENSG00000099381 ENST00000262519 D 0.94280 -3.39 5.66 2.46 0.29980 . 1.105250 0.06839 N 0.795240 D 0.87958 0.6309 L 0.36672 1.1 0.24743 N 0.99302 B 0.13594 0.008 B 0.16722 0.016 T 0.72877 -0.4159 10 0.10377 T 0.69 . 7.163 0.25675 0.0985:0.4245:0.477:0.0 . 1119 O15047 SET1A_HUMAN S 1119 ENSP00000262519:A1119S ENSP00000262519:A1119S A + 1 0 SETD1A 30890538 0.167000 0.22975 0.819000 0.32651 0.110000 0.19582 -0.062000 0.11674 0.708000 0.31955 0.467000 0.42956 GCA SETD1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318244.2 + ENST00000262519.8 Missense_Mutation SNP PCPG-TCGA-QT-A69Q-Normal-SM-5EQGR EEF1A1 1915 broad.mit.edu 37 6 74229620 74229620 + Missense_Mutation SNP T T C TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr6:74229620T>C ENST00000316292.9 - 1.0 1121 c.130A>G c.(130-132)Aag>Gag p.K44E EEF1A1_ENST00000309268.6_Missense_Mutation_p.K44E|EEF1A1_ENST00000331523.2_Missense_Mutation_p.K44E NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 44.0 tr-type G. cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414) cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18.0 GCAGCCTCCTTCTCAAATTTT 0.423 0 127.0 129.0 128.0 6 74229620.0 2203.0 4300.0 6503.0 SO:0001583 missense BC019669 CCDS4980.1 6q14.1 2010-06-30 2004-11-19 ENSG00000156508 ENSG00000156508 1915.0 1915.0 3189.0 protein-coding gene gene with protein product 130590.0 """leukocyte receptor cluster (LRC) member 7""" EF1A, EEF1A, LENG7 8812466, 10941842 Standard NM_001402 NM_001402 Approved EE1A1 uc003phj.3 P68104 OTTHUMG00000015031 ENST00000316292.9:c.130A>G 6.__UNKNOWN__:g.74229620T>C ENSP00000339063:p.Lys44Glu P04719|P04720|Q6IQ15 __UNKNOWN__ CCDS4980.1 . . . . . . . . . . T 13.92 2.380554 0.42207 . . ENSG00000156508 ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918 T;T;T;T;T 0.44881 0.91;0.91;0.91;0.91;0.91 4.15 4.15 0.48705 Protein synthesis factor, GTP-binding (2); 0.000000 0.85682 U 0.000000 T 0.23965 0.0580 L 0.39326 1.205 0.80722 D 1 B;B;B;B;B 0.14012 0.002;0.009;0.009;0.009;0.009 B;B;B;B;B 0.26416 0.013;0.069;0.069;0.069;0.069 T 0.21999 -1.0229 10 0.87932 D 0 . 13.6597 0.62359 0.0:0.0:0.0:1.0 . 44;44;44;44;44 A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0 .;EF1A1_HUMAN;.;.;EF1A3_HUMAN E 44 ENSP00000339063:K44E;ENSP00000339053:K44E;ENSP00000330054:K44E;ENSP00000348651:K44E;ENSP00000392366:K44E ENSP00000339053:K44E K - 1 0 EEF1A1 74286341 1.000000 0.71417 1.000000 0.80357 0.921000 0.55340 7.669000 0.83911 1.874000 0.54306 0.454000 0.30748 AAG EEF1A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041210.2 - ENST00000316292.9 Missense_Mutation SNP PCPG-TCGA-QT-A69Q-Normal-SM-5EQGR AHNAK 79026 broad.mit.edu 37 11 62287729 62287729 + Silent SNP C C T TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr11:62287729C>T ENST00000378024.4 - 5.0 14434 c.14160G>A c.(14158-14160)aaG>aaA p.K4720K AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4720.0 protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385) actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982) poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493) 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) 268.0 Melanoma(852;0.155) GCATGGAGATCTTGGGGGCTT 0.488 0 196.0 197.0 197.0 11 62287729.0 2202.0 4299.0 6501.0 SO:0001819 synonymous_variant M80899 CCDS31584.1, CCDS44625.1 11q12-q13 2008-02-05 2007-03-30 ENSG00000124942 ENSG00000124942 79026.0 79026.0 347.0 protein-coding gene gene with protein product """desmoyokin""" 103390.0 """AHNAK nucleoprotein (desmoyokin)""" 7987395, 12153988 Standard NM_024060 NM_024060 Approved MGC5395 uc001ntl.3 Q09666 OTTHUMG00000167558 ENST00000378024.4:c.14160G>A 11.__UNKNOWN__:g.62287729C>T A1A586 __UNKNOWN__ CCDS31584.1 AHNAK-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000395572.1 - ENST00000378024.4 Silent SNP PCPG-TCGA-QT-A69Q-Normal-SM-5EQGR NUMBL 9253 broad.mit.edu 37 19 41186839 41186839 + Silent SNP G G A TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr19:41186839G>A ENST00000252891.4 - 6.0 690 c.523C>T c.(523-525)Ctg>Ttg p.L175L NUMBL_ENST00000540131.1_Silent_p.L134L|NUMBL_ENST00000598779.1_Silent_p.L134L NM_004756.3 NP_004747.1 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 175.0 PID. {ECO:0000255|PROSITE- ProRule:PRU00148}. adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538) cytoplasm (GO:0005737) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16.0 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) TTCAGTGCCAGAAAACAGTGG 0.572 0 109.0 103.0 105.0 19 41186839.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF015401 CCDS12561.1 19q13.13-q13.2 2008-07-17 2001-11-28 ENSG00000105245 9253.0 9253.0 8061.0 protein-coding gene gene with protein product 604018.0 """numb (Drosophila) homolog-like""" 9225980, 9303539 Standard NM_004756 XM_006723471 Approved NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE uc002oon.3 Q9Y6R0 ENST00000252891.4:c.523C>T 19.__UNKNOWN__:g.41186839G>A Q7Z4J9 __UNKNOWN__ CCDS12561.1 NUMBL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000462749.2 - ENST00000252891.4 Silent SNP PCPG-TCGA-QT-A69Q-Normal-SM-5EQGR F13A1 2162 broad.mit.edu 37 6 6318876 6318876 + Missense_Mutation SNP C C T rs138865075 TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr6:6318876C>T ENST00000264870.3 - 2.0 287 c.22G>A c.(22-24)Gcc>Acc p.A8T NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 8.0 blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093) metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810) 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) 62.0 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CCTCCAAAGGCGGTCCTGGAA 0.468 C 1.0 0.0005 2184.0 0.0017 0.9999 , , 0.0003 0.0005 0.9135 EXOME 0.0019 SNP 0 C THR/ALA 2,4404 4.2+/-10.8 0,2,2201 160.0 148.0 152.0 22 -9.3 0.0 6 dbSNP_134 152.0 0,8600 0,0,4300 yes missense F13A1 NM_000129.3 58 0,2,6501 TT,TC,CC 0.0,0.0454,0.0154 benign 8/733 6318876.0 2,13004 2203.0 4300.0 6503.0 SO:0001583 missense M14539 CCDS4496.1 6p24.2-p23 2014-01-24 ENSG00000124491 ENSG00000124491 2162.0 2162.0 """Transglutaminases""" 3531.0 protein-coding gene gene with protein product 134570.0 F13A Standard NM_000129 NM_000129 Approved uc003mwv.3 P00488 OTTHUMG00000014186 ENST00000264870.3:c.22G>A 6.__UNKNOWN__:g.6318876C>T ENSP00000264870:p.Ala8Thr Q59HA7|Q8N6X2|Q96P24|Q9BX29 __UNKNOWN__ CCDS4496.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 1.562 -0.536529 0.04082 4.54E-4 0.0 ENSG00000124491 ENST00000264870;ENST00000441301;ENST00000414279;ENST00000431222 D;D 0.86366 -2.11;-2.11 4.64 -9.28 0.00656 Immunoglobulin E-set (1); 0.839087 0.10764 N 0.636831 T 0.36166 0.0957 N 0.08118 0 0.09310 N 1 B;B 0.06786 0.001;0.0 B;B 0.04013 0.001;0.0 T 0.35151 -0.9800 10 0.05436 T 0.98 . 7.7893 0.29110 0.0906:0.1371:0.0901:0.6822 . 8;8 F5H080;P00488 .;F13A_HUMAN T 8;8;8;46 ENSP00000264870:A8T;ENSP00000413334:A8T ENSP00000264870:A8T A - 1 0 F13A1 6263875 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -2.147000 0.01293 -3.050000 0.00260 -1.829000 0.00594 GCC F13A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039756.3 - ENST00000264870.3 Missense_Mutation SNP PCPG-TCGA-QT-A69Q-Normal-SM-5EQGR SETD2 29072 broad.mit.edu 37 3 47161862 47161862 + Missense_Mutation SNP G G C TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr3:47161862G>C ENST00000409792.3 - 3.0 4306 c.4264C>G c.(4264-4266)Cag>Gag p.Q1422E NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1422.0 angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368) chromosome (GO:0005694)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024) 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) 141.0 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) TTTCTGTCCTGAAGCTCACCA 0.438 """N, F, S, Mis""" clear cell renal carcinoma Rec yes 3 3p21.31 29072.0 SET domain containing 2 E 0 188.0 180.0 183.0 3 47161862.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ238403 CCDS2749.2 3p21.31 2014-09-17 ENSG00000181555 ENSG00000181555 29072.0 29072.0 """Chromatin-modifying enzymes / K-methyltransferases""" 18420.0 protein-coding gene gene with protein product 612778.0 16118227, 11461154 Standard NM_014159 NM_014159 Approved HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A uc003cqs.3 Q9BYW2 OTTHUMG00000133514 ENST00000409792.3:c.4264C>G 3.__UNKNOWN__:g.47161862G>C ENSP00000386759:p.Gln1422Glu O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9 __UNKNOWN__ CCDS2749.2 . . . . . . . . . . G 6.003 0.368904 0.11352 . . ENSG00000181555 ENST00000451092;ENST00000543224;ENST00000409792 D 0.88277 -2.36 5.18 5.18 0.71444 . 0.136830 0.34025 N 0.004327 T 0.74839 0.3769 N 0.12182 0.205 0.09310 N 0.999999 B;B 0.26672 0.156;0.156 B;B 0.24541 0.054;0.054 T 0.59247 -0.7490 10 0.23302 T 0.38 . 5.5827 0.17258 0.0764:0.1404:0.6377:0.1455 . 1422;1422 F2Z317;Q9BYW2 .;SETD2_HUMAN E 1422 ENSP00000386759:Q1422E ENSP00000386759:Q1422E Q - 1 0 SETD2 47136866 0.978000 0.34361 0.999000 0.59377 0.974000 0.67602 2.682000 0.46934 2.690000 0.91761 0.563000 0.77884 CAG SETD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257479.2 - ENST00000409792.3 Missense_Mutation SNP PCPG-TCGA-QT-A69Q-Normal-SM-5EQGR C10orf90 118611 broad.mit.edu 37 10 128153427 128153427 + Missense_Mutation SNP C C T TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr10:128153427C>T ENST00000356858.3 - 4.0 2082 c.1231G>A c.(1231-1233)Gat>Aat p.D411N C10orf90_ENST00000454341.1_Intron|C10orf90_ENST00000544758.1_Missense_Mutation_p.D555N|C10orf90_ENST00000284694.7_Missense_Mutation_p.D458N Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 458.0 mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411) actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737) 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) 65.0 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) AGACAGTCATCGCTTGGAGAG 0.488 0 114.0 110.0 111.0 10 128153427.0 2203.0 4300.0 6503.0 SO:0001583 missense BC034828 CCDS31310.1 10q26.2 2012-05-31 ENSG00000154493 ENSG00000154493 118611.0 118611.0 26563.0 protein-coding gene gene with protein product """fragile-site associated tumor suppressor""" 20843368, 20154723 Standard NM_001004298 NM_001004298 Approved FLJ32938, bA422P15.2, FATS uc001ljq.3 Q96M02 OTTHUMG00000019245 ENST00000356858.3:c.1231G>A 10.__UNKNOWN__:g.128153427C>T ENSP00000349318:p.Asp411Asn B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75 __UNKNOWN__ . . . . . . . . . . C 0.019 -1.449358 0.01080 . . ENSG00000154493 ENST00000356858;ENST00000284694;ENST00000544758;ENST00000432642 T;T;T 0.17854 2.25;2.25;2.25 4.44 1.36 0.22044 . 0.995724 0.08138 N 0.992091 T 0.04952 0.0133 N 0.02539 -0.55 0.09310 N 1 B;B 0.14012 0.004;0.009 B;B 0.09377 0.004;0.002 T 0.39643 -0.9604 10 0.02654 T 1 -0.2384 3.4459 0.07481 0.0:0.3332:0.2417:0.4251 . 555;458 F5GZL2;Q96M02 .;CJ090_HUMAN N 411;458;555;458 ENSP00000284694:D458N;ENSP00000444369:D555N;ENSP00000405995:D458N ENSP00000284694:D458N D - 1 0 C10orf90 128143417 0.000000 0.05858 0.000000 0.03702 0.395000 0.30598 -0.094000 0.11094 0.075000 0.16796 0.637000 0.83480 GAT C10orf90-001 KNOWN basic protein_coding protein_coding OTTHUMT00000050969.2 - ENST00000356858.3 Missense_Mutation SNP PCPG-TCGA-QT-A69Q-Normal-SM-5EQGR TIAM2 26230 broad.mit.edu 37 6 155569142 155569142 + Missense_Mutation SNP G G C TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr6:155569142G>C ENST00000528391.2 + 15.0 1811 c.1669G>C c.(1669-1671)Gac>Cac p.D557H TIAM2_ENST00000456877.2_Missense_Mutation_p.D533H|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1221H|TIAM2_ENST00000456144.1_Missense_Mutation_p.D1221H|TIAM2_ENST00000461783.3_Missense_Mutation_p.D1221H|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1245H|TIAM2_ENST00000367174.2_Missense_Mutation_p.D597H|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1221H|TIAM2_ENST00000275246.7_Missense_Mutation_p.D146H Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1221.0 PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}. apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) 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) 65.0 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGCTAAAACTGACAAAGCCTT 0.448 OREG0017745 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 86.0 90.0 89.0 6 155569142.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS34558.1, CCDS34559.1 6q25 2013-01-10 ENSG00000146426 ENSG00000146426 26230.0 26230.0 """Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing""" 11806.0 protein-coding gene gene with protein product 604709.0 10512681 Standard NM_012454 NM_012454 Approved STEF uc003qqe.3 Q8IVF5 OTTHUMG00000015880 ENST00000528391.2:c.1669G>C 6.__UNKNOWN__:g.155569142G>C ENSP00000435335:p.Asp557His 1771.0 B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0 __UNKNOWN__ . . . . . . . . . . G 27.9 4.872887 0.91664 . . ENSG00000146426 ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246 T;T;T;T;T;T;T;T;T;T 0.69306 -0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39 5.64 5.64 0.86602 Dbl homology (DH) domain (5); 0.000000 0.85682 D 0.000000 T 0.76793 0.4037 L 0.60845 1.875 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;0.962 D;D;D;D 0.97110 0.993;1.0;0.999;0.927 T 0.75590 -0.3265 10 0.49607 T 0.09 . 19.7013 0.96054 0.0:0.0:1.0:0.0 . 557;1221;1245;1221 E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5 .;.;.;TIAM2_HUMAN H 1221;1467;1221;1221;1221;597;1245;1221;533;557;146 ENSP00000437188:D1221H;ENSP00000434901:D1221H;ENSP00000407746:D1221H;ENSP00000327315:D1221H;ENSP00000356142:D597H;ENSP00000353528:D1245H;ENSP00000433348:D1221H;ENSP00000407183:D533H;ENSP00000435335:D557H;ENSP00000275246:D146H ENSP00000275246:D146H D + 1 0 TIAM2 155610834 1.000000 0.71417 0.305000 0.25099 0.857000 0.48899 9.869000 0.99810 2.657000 0.90304 0.655000 0.94253 GAC TIAM2-004 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000042808.3 + ENST00000528391.2 Missense_Mutation SNP PCPG-TCGA-QT-A69Q-Normal-SM-5EQGR SPRY3 10251 broad.mit.edu 37 X 155004226 155004226 + Silent SNP C C T TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chrX:155004226C>T ENST00000302805.2 + 2.0 1124 c.693C>T c.(691-693)ttC>ttT p.F231F NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 231.0 Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}. multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966) cytoplasm (GO:0005737)|membrane (GO:0016020) p.F231F(1) all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TCTCCCTCTTCCTACCCTGCC 0.597 1 Substitution - coding silent(1) lung(1) 223.0 203.0 210.0 X 155004226.0 2203.0 4296.0 6499.0 SO:0001819 synonymous_variant AF041038 CCDS14769.4 Xq28 and Yq12 2008-02-05 2001-11-28 ENSG00000168939 ENSG00000168939 10251.0 10251.0 """Pseudoautosomal regions / PAR2""" 11271.0 protein-coding gene gene with protein product """antagonist of FGF signaling""" 300531.0 """sprouty (Drosophila) homolog 2""" 9458049 Standard NM_005840 NM_005840 Approved HSPRY3 uc004fnq.1 O43610 OTTHUMG00000022675 ENST00000302805.2:c.693C>T X.__UNKNOWN__:g.155004226C>T A8K0H8 __UNKNOWN__ CCDS14769.4 SPRY3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058823.2 + ENST00000302805.2 Silent SNP PCPG-TCGA-QT-A69Q-Normal-SM-5EQGR CDC42BPA 8476 broad.mit.edu 37 1 227387293 227387293 + Missense_Mutation SNP T T C rs146827361 byFrequency TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr1:227387293T>C ENST00000366769.3 - 4.0 1706 c.415A>G c.(415-417)Acc>Gcc p.T139A CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T139A|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T139A|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T139A NM_003607.3 NP_003598.2 CDC42 binding protein kinase alpha (DMPK-like) NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77.0 all_cancers(173;0.156)|Prostate(94;0.0792) TAGTGCAAGGTTGTAATCCAT 0.289 0 T ALA/THR,ALA/THR 1,4405 2.1+/-5.4 0,1,2202 120.0 118.0 118.0 415,415 4.3 1.0 1 dbSNP_134 118.0 2,8588 2.2+/-6.3 0,2,4293 yes missense,missense CDC42BPA NM_003607.3,NM_014826.4 58,58 0,3,6495 CC,CT,TT 0.0233,0.0227,0.0231 benign,benign 139/1720,139/1639 227387293.0 3,12993 2203.0 4295.0 6498.0 SO:0001583 missense U59305 CCDS1558.1, CCDS1559.1 1q42.11 2011-11-23 2001-11-28 ENSG00000143776 ENSG00000143776 8476.0 8476.0 1737.0 protein-coding gene gene with protein product """myotonic dystrophy kinase-related Cdc42-binding kinase""" 603412.0 """CDC42-binding protein kinase alpha (DMPK-like)""" Standard NM_014826 NM_003607 Approved MRCKA, PK428, FLJ23347, KIAA0451, MRCK uc001hqr.3 Q5VT25 OTTHUMG00000037618 ENST00000366769.3:c.415A>G 1.__UNKNOWN__:g.227387293T>C ENSP00000355731:p.Thr139Ala __UNKNOWN__ CCDS1558.1 . . . . . . . . . . T 14.48 2.549028 0.45383 2.27E-4 2.33E-4 ENSG00000143776 ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765 T;T;T;T;T;T;T 0.39056 1.1;1.1;1.1;1.1;1.1;1.1;1.1 5.45 4.33 0.51752 . 0.000000 0.85682 D 0.000000 T 0.37348 0.1000 N 0.05534 -0.03 0.58432 D 0.999996 D;P;B;B 0.63046 0.992;0.916;0.234;0.081 D;P;B;B 0.65874 0.939;0.721;0.14;0.034 T 0.13098 -1.0522 10 0.14252 T 0.57 . 11.0853 0.48082 0.0:0.0724:0.0:0.9276 . 139;139;139;139 F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5 .;.;.;. A 139 ENSP00000355731:T139A;ENSP00000355729:T139A;ENSP00000335341:T139A;ENSP00000355728:T139A;ENSP00000355726:T139A;ENSP00000443275:T139A;ENSP00000355727:T139A ENSP00000335341:T139A T - 1 0 CDC42BPA 225453916 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 6.201000 0.72124 0.915000 0.36847 0.533000 0.62120 ACC CDC42BPA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000091696.1 - ENST00000366769.3 Missense_Mutation SNP PCPG-TCGA-QT-A69Q-Normal-SM-5EQGR NID2 22795 broad.mit.edu 37 14 52505584 52505584 + Missense_Mutation SNP G G A TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr14:52505584G>A ENST00000216286.5 - 9.0 2137 c.2138C>T c.(2137-2139)cCc>cTc p.P713L NID2_ENST00000541773.1_Missense_Mutation_p.P660L NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 713.0 Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}. basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198) basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|collagen binding (GO:0005518) 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) 87.0 Breast(41;0.0639)|all_epithelial(31;0.123) CGGGTGTCTGGGGGCGTGCCT 0.517 0 142.0 139.0 140.0 14 52505584.0 2203.0 4300.0 6503.0 SO:0001583 missense AB009799 CCDS9706.1 14q22.1 2008-05-14 ENSG00000087303 ENSG00000087303 22795.0 22795.0 13389.0 protein-coding gene gene with protein product 605399.0 9733643 Standard NM_007361 Approved uc001wzo.3 Q14112 OTTHUMG00000140298 ENST00000216286.5:c.2138C>T 14.__UNKNOWN__:g.52505584G>A ENSP00000216286:p.Pro713Leu A8K6I7|B4DU19|O43710 __UNKNOWN__ CCDS9706.1 . . . . . . . . . . G 14.23 2.473903 0.43942 . . ENSG00000087303 ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707 T;T 0.22539 1.95;1.95 5.95 5.95 0.96441 G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1); 0.496451 0.24276 N 0.039944 T 0.36166 0.0957 M 0.67953 2.075 0.09310 N 0.999995 B;P;D;P 0.60575 0.409;0.622;0.988;0.741 B;B;P;P 0.58577 0.348;0.275;0.841;0.568 T 0.30416 -0.9979 10 0.27082 T 0.32 . 10.5361 0.45004 0.0:0.1791:0.6901:0.1307 . 307;660;715;713 E7EPP3;Q14112-2;Q5CZI2;Q14112 .;.;.;NID2_HUMAN L 713;307;660;715 ENSP00000216286:P713L;ENSP00000443730:P660L ENSP00000216286:P713L P - 2 0 NID2 51575334 0.432000 0.25554 0.165000 0.22776 0.154000 0.21943 1.756000 0.38390 2.829000 0.97493 0.655000 0.94253 CCC NID2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276888.1 - ENST00000216286.5 Missense_Mutation SNP PCPG-TCGA-QT-A69Q-Normal-SM-5EQGR CDHR5 53841 broad.mit.edu 37 11 618714 618714 + Silent SNP G G A TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr11:618714G>A ENST00000358353.3 - 14.0 2167 c.1845C>T c.(1843-1845)ccC>ccT p.P615P CDHR5_ENST00000397542.2_Silent_p.P615P|CDHR5_ENST00000349570.7_Intron Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 615.0 4 X 31 AA approximate tandem repeats. cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23.0 TTCCCATACCGGGGGGCATCG 0.662 0 117.0 123.0 121.0 11 618714.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF258675 CCDS7707.1, CCDS7708.1 11p15.5 2011-07-01 2010-01-25 2010-01-25 ENSG00000099834 ENSG00000099834 53841.0 53841.0 """Cadherins / Cadherin-related""" 7521.0 protein-coding gene gene with protein product 606839.0 """mucin and cadherin-like"", ""mucin-like protocadherin""" MUCDHL, MUPCDH 11031102, 10801787 Standard NM_021924 NM_021924 Approved FLJ20219, MU-PCDH uc001lqj.3 Q9HBB8 OTTHUMG00000132018 ENST00000358353.3:c.1845C>T 11.__UNKNOWN__:g.618714G>A C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9 __UNKNOWN__ CCDS7707.1 CDHR5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000255023.2 - ENST00000358353.3 Silent SNP PCPG-TCGA-QT-A69Q-Normal-SM-5EQGR DCK 1633 broad.mit.edu 37 4 71859586 71859586 + Missense_Mutation SNP T T G TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr4:71859586T>G ENST00000286648.5 + 1.0 431 c.34T>G c.(34-36)Ttc>Gtc p.F12V DCK_ENST00000504952.1_Missense_Mutation_p.F12V|DCK_ENST00000504730.1_Missense_Mutation_p.F12V|MOB1B_ENST00000511449.1_Intron NM_000788.2 NP_000779.1 P27707 DCK_HUMAN deoxycytidine kinase 12.0 deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803) endometrium(2)|large_intestine(3)|lung(3)|ovary(1) 9.0 Lung(101;0.235) Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943) CTGCCCGTCTTTCTCAGCCAG 0.632 0 48.0 43.0 45.0 4 71859586.0 2203.0 4300.0 6503.0 SO:0001583 missense M60527 CCDS3548.1 4q13.3-q21.1 2008-02-05 ENSG00000156136 ENSG00000156136 1633.0 1633.0 2.7.1.74 2704.0 protein-coding gene gene with protein product 125450.0 8406512 Standard NM_000788 Approved uc003hfx.3 P27707 OTTHUMG00000129908 ENST00000286648.5:c.34T>G 4.__UNKNOWN__:g.71859586T>G ENSP00000286648:p.Phe12Val B2R8V6|Q5TZY7|Q6FI11 __UNKNOWN__ CCDS3548.1 . . . . . . . . . . C 3.315 -0.139932 0.06669 . . ENSG00000156136 ENST00000509617;ENST00000286648;ENST00000504730;ENST00000504952 D;D;D 0.98732 -5.1;-4.61;-5.07 4.82 2.0 0.26442 . 0.535930 0.21390 N 0.075327 D 0.92639 0.7661 N 0.08118 0 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 D 0.84527 0.0631 10 0.10636 T 0.68 . 5.5506 0.17089 0.0:0.5919:0.1419:0.2663 . 12 P27707 DCK_HUMAN V 12 ENSP00000286648:F12V;ENSP00000425578:F12V;ENSP00000421508:F12V ENSP00000286648:F12V F + 1 0 DCK 72078450 0.001000 0.12720 0.017000 0.16124 0.133000 0.20885 0.113000 0.15499 -0.067000 0.12976 -2.026000 0.00426 TTC DCK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252159.2 + ENST00000286648.5 Missense_Mutation SNP PCPG-TCGA-QT-A69Q-Normal-SM-5EQGR EXOC2 55770 broad.mit.edu 37 6 598916 598916 + Missense_Mutation SNP T T C TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr6:598916T>C ENST00000230449.4 - 9.0 1049 c.914A>G c.(913-915)gAt>gGt p.D305G EXOC2_ENST00000448181.3_Intron NM_018303.5 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 305.0 cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031) exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46.0 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) CTTTTCATAATCATTAATAAC 0.289 0 77.0 82.0 80.0 6 598916.0 2203.0 4297.0 6500.0 SO:0001583 missense AJ420556 CCDS34327.1 6p25.3 2013-01-22 2005-11-01 2005-11-01 ENSG00000112685 ENSG00000112685 55770.0 55770.0 24968.0 protein-coding gene gene with protein product 615329.0 """SEC5-like 1 (S. cerevisiae)""" SEC5L1 12575951, 12459492 Standard NM_018303 NM_018303 Approved FLJ11026, Sec5p uc003mtd.4 Q96KP1 OTTHUMG00000137437 ENST00000230449.4:c.914A>G 6.__UNKNOWN__:g.598916T>C ENSP00000230449:p.Asp305Gly B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7 __UNKNOWN__ CCDS34327.1 . . . . . . . . . . T 20.8 4.058113 0.76074 . . ENSG00000112685 ENST00000230449 T 0.56444 0.46 5.32 5.32 0.75619 . 0.000000 0.85682 D 0.000000 T 0.66963 0.2843 M 0.78049 2.395 0.80722 D 1 D 0.89917 1.0 D 0.80764 0.994 T 0.72354 -0.4319 10 0.62326 D 0.03 -1.9261 15.2939 0.73888 0.0:0.0:0.0:1.0 . 305 Q96KP1 EXOC2_HUMAN G 305 ENSP00000230449:D305G ENSP00000230449:D305G D - 2 0 EXOC2 543916 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 7.665000 0.83852 2.005000 0.58758 0.482000 0.46254 GAT EXOC2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039627.1 - ENST00000230449.4 Missense_Mutation SNP PCPG-TCGA-QT-A69Q-Normal-SM-5EQGR ASTN2 23245 broad.mit.edu 37 9 119739005 119739005 + Missense_Mutation SNP G G A TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr9:119739005G>A ENST00000361209.2 - 7.0 1629 c.1498C>T c.(1498-1500)Cgc>Tgc p.R500C ASTN2_ENST00000313400.4_Missense_Mutation_p.R551C|ASTN2_ENST00000373996.3_Missense_Mutation_p.R551C|ASTN2_ENST00000361477.3_5'UTR NM_014010.4 NP_054729.3 O75129 ASTN2_HUMAN astrotactin 2 551.0 negative regulation of protein localization to cell surface (GO:2000009) cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021) 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) 102.0 CAGTCACTGCGCACACACAGG 0.507 0 111.0 89.0 96.0 9 119739005.0 2203.0 4300.0 6503.0 SO:0001583 missense AF116574 CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1 9q33 2008-02-05 ENSG00000148219 ENSG00000148219 23245.0 23245.0 17021.0 protein-coding gene gene with protein product 612856.0 9734811 Standard NM_014010 NM_014010 Approved KIAA0634 uc004bjt.2 O75129 OTTHUMG00000021013 ENST00000361209.2:c.1498C>T 9.__UNKNOWN__:g.119739005G>A ENSP00000354504:p.Arg500Cys A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6 __UNKNOWN__ CCDS6815.1 . . . . . . . . . . G 21.9 4.219085 0.79464 . . ENSG00000148219 ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209 T;T;T;T 0.25250 1.92;1.92;1.81;2.0 5.81 5.81 0.92471 . 0.000000 0.85682 D 0.000000 T 0.42854 0.1221 L 0.32530 0.975 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.998;0.993;0.999 T 0.05582 -1.0876 9 . . . -23.3294 20.0795 0.97766 0.0:0.0:1.0:0.0 . 500;551;551 O75129-2;O75129;O75129-3 .;ASTN2_HUMAN;. C 551;551;278;500 ENSP00000314038:R551C;ENSP00000363108:R551C;ENSP00000363098:R278C;ENSP00000354504:R500C . R - 1 0 ASTN2 118778826 1.000000 0.71417 1.000000 0.80357 0.976000 0.68499 7.479000 0.81095 2.747000 0.94245 0.650000 0.86243 CGC ASTN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055428.2 - ENST00000361209.2 Missense_Mutation SNP PCPG-TCGA-QT-A69Q-Normal-SM-5EQGR Unknown 0 bcgsc.ca 37 12 43964359 43964359 + RNA SNP T T A TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr12:43964359T>A ADAMTS20 (18635 upstream) : RP11-350F4.2 (148436 downstream) TCCGAAAGGCTCTTGTAAAAG 0.413 0 SO:0001628 intergenic_variant 12.__UNKNOWN__:g.43964359T>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QT-A69Q-Normal-SM-5EQGR ARF4 378 ucsc.edu 37 3 57582840 57582840 + Missense_Mutation SNP A A T TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr3:57582840A>T ENST00000496292.1 - 1.0 212 c.28T>A c.(28-30)Tcc>Acc p.S10T ARF4_ENST00000303436.6_Missense_Mutation_p.S10T|ARF4_ENST00000489843.1_5'UTR|ARF4_ENST00000493378.1_5'UTR P18085 ARF4_HUMAN ADP-ribosylation factor 4 10.0 activation of phospholipase D activity (GO:0031584)|brain development (GO:0007420)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein transport (GO:0015031)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to axon injury (GO:0048678)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|ruffle membrane (GO:0032587) epidermal growth factor receptor binding (GO:0005154)|GTP binding (GO:0005525) large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 7.0 KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561) AATAGTCGGGAGAAGAGGGAG 0.577 0 87.0 81.0 83.0 3 57582840.0 2203.0 4300.0 6503.0 SO:0001583 missense M36341 CCDS2884.1 3p21.2-p21.1 2007-03-19 ENSG00000168374 ENSG00000168374 378.0 378.0 """ADP-ribosylation factors""" 655.0 protein-coding gene gene with protein product 601177 """ADP-ribosylation factor 2""" ARF2 2107548 Standard NM_001660 NM_001660 Approved uc003dix.4 P18085 OTTHUMG00000158601 ENST00000496292.1:c.28T>A 3.__UNKNOWN__:g.57582840A>T ENSP00000417501:p.Ser10Thr B2R7J7|P21371 __UNKNOWN__ . . . . . . . . . . A 18.36 3.607327 0.66558 . . ENSG00000168374 ENST00000303436;ENST00000496292;ENST00000463880;ENST00000488156 T;T;T 0.64085 -0.08;0.11;-0.08 6.17 6.17 0.99709 . 0.000000 0.85682 D 0.000000 T 0.56834 0.2012 L 0.48260 1.515 0.58432 D 0.999999 B;B 0.02656 0.0;0.0 B;B 0.09377 0.004;0.0 T 0.50693 -0.8798 10 0.26408 T 0.33 -7.5434 16.4837 0.84171 1.0:0.0:0.0:0.0 . 10;10 C9JAK5;P18085 .;ARF4_HUMAN T 10 ENSP00000306010:S10T;ENSP00000417501:S10T;ENSP00000420254:S10T ENSP00000306010:S10T S - 1 0 ARF4 57557880 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 6.740000 0.74832 2.371000 0.80710 0.533000 0.62120 TCC ARF4-004 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000351446.1 - ENST00000496292.1 Missense_Mutation SNP PCPG-TCGA-QT-A69Q-Normal-SM-5EQGR LRP1B 53353 hgsc.bcm.edu 37 2 141232888 141232888 + Missense_Mutation SNP G G C TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr2:141232888G>C ENST00000389484.3 - 60.0 10415 c.9444C>G c.(9442-9444)gaC>gaG p.D3148E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3148.0 protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898) integral component of membrane (GO:0016021)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041) 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) 606.0 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) ACTCGCAGCAGTCAATCCAAT 0.358 TSP Lung(27;0.18) Colon(99;50 2074 2507 20106) 0 68.0 67.0 67.0 2 141232888.0 2203.0 4300.0 6503.0 SO:0001583 missense AF176832 CCDS2182.1 2q21.2 2013-05-29 2010-01-26 ENSG00000168702 ENSG00000168702 53353.0 53353.0 """Low density lipoprotein receptors""" 6693.0 protein-coding gene gene with protein product """LRP-deleted in tumors""" 608766 10766186 Standard NM_018557 NM_018557 Approved LRP-DIT, LRPDIT uc002tvj.1 Q9NZR2 OTTHUMG00000131799 ENST00000389484.3:c.9444C>G 2.__UNKNOWN__:g.141232888G>C ENSP00000374135:p.Asp3148Glu Q8WY29|Q8WY30|Q8WY31 __UNKNOWN__ CCDS2182.1 . . . . . . . . . . G 18.95 3.731068 0.69074 . . ENSG00000168702 ENST00000389484;ENST00000544579 D 0.95307 -3.67 5.63 1.82 0.25136 Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1); 0.000000 0.85682 D 0.000000 D 0.95300 0.8475 L 0.60067 1.865 0.38838 D 0.956 D 0.76494 0.999 D 0.78314 0.991 D 0.92909 0.6346 10 0.39692 T 0.17 . 9.0473 0.36354 0.4486:0.0:0.5514:0.0 . 3148 Q9NZR2 LRP1B_HUMAN E 3148;3086 ENSP00000374135:D3148E ENSP00000374135:D3148E D - 3 2 LRP1B 140949358 1.000000 0.71417 0.999000 0.59377 0.997000 0.91878 1.778000 0.38614 0.062000 0.16340 0.650000 0.86243 GAC LRP1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254736.2 - ENST00000389484.3 Missense_Mutation SNP PCPG-TCGA-QT-A69Q-Normal-SM-5EQGR AGXT2 64902 broad.mit.edu 37 5 35035400 35035400 + Missense_Mutation SNP C C T TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr5:35035400C>T ENST00000231420.6 - 5.0 708 c.508G>A c.(508-510)Ggc>Agc p.G170S NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 170.0 cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) (R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41.0 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119) GCTTCTGAGCCACTGTTCACC 0.433 0 118.0 127.0 124.0 5 35035400.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ292204 CCDS3908.1 5p13 2010-05-07 2010-05-07 ENSG00000113492 ENSG00000113492 64902.0 64902.0 2.6.1.44 14412.0 protein-coding gene gene with protein product """beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II""" 612471.0 """alanine-glyoxylate aminotransferase 2""" 15240345 Standard NM_031900 NM_031900 Approved AGT2 uc003jjf.3 Q9BYV1 OTTHUMG00000090788 ENST00000231420.6:c.508G>A 5.__UNKNOWN__:g.35035400C>T ENSP00000231420:p.Gly170Ser B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1 __UNKNOWN__ CCDS3908.1 . . . . . . . . . . C 32 5.189677 0.94923 . . ENSG00000113492 ENST00000231420 D 0.98633 -5.04 6.06 6.06 0.98353 Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1); 0.000000 0.85682 D 0.000000 D 0.99638 0.9867 H 0.99498 4.595 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 0.999;1.0;0.997 D 0.97461 1.0034 10 0.87932 D 0 -6.3889 20.6282 0.99521 0.0:1.0:0.0:0.0 . 78;170;170 B7Z3M3;E9PDL7;Q9BYV1 .;.;AGT2_HUMAN S 170 ENSP00000231420:G170S ENSP00000231420:G170S G - 1 0 AGXT2 35071157 1.000000 0.71417 1.000000 0.80357 0.745000 0.42441 7.250000 0.78287 2.871000 0.98454 0.655000 0.94253 GGC AGXT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207574.2 - ENST00000231420.6 Missense_Mutation SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB PAPSS1 9061 broad.mit.edu 37 4 108535505 108535505 + Missense_Mutation SNP C C T TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr4:108535505C>T ENST00000265174.4 - 12.0 2047 c.1775G>A c.(1774-1776)cGc>cAc p.R592H NM_005443.4 NP_005434.4 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 1 592.0 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781) NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1) 16.0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) AGCAAGTTTGCGCATTCGTGT 0.383 0 111.0 103.0 105.0 4 108535505.0 2203.0 4300.0 6503.0 SO:0001583 missense Y10387 CCDS3676.1 4q24 2012-07-13 ENSG00000138801 ENSG00000138801 9061.0 9061.0 2.7.7.4, 2.7.1.25 8603.0 protein-coding gene gene with protein product 603262.0 9576487, 9771708 Standard NM_005443 Approved ATPSK1, PAPSS uc003hyk.3 O43252 OTTHUMG00000131210 ENST00000265174.4:c.1775G>A 4.__UNKNOWN__:g.108535505C>T ENSP00000265174:p.Arg592His O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98 __UNKNOWN__ CCDS3676.1 . . . . . . . . . . C 35 5.424251 0.96111 . . ENSG00000138801 ENST00000265174 T 0.44881 0.91 6.16 6.16 0.99307 Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1); 0.046932 0.85682 D 0.000000 T 0.81341 0.4802 H 0.99273 4.495 0.80722 D 1 D 0.71674 0.998 D 0.72075 0.976 D 0.88123 0.2833 10 0.87932 D 0 -10.0074 20.8598 0.99761 0.0:1.0:0.0:0.0 . 592 O43252 PAPS1_HUMAN H 592 ENSP00000265174:R592H ENSP00000265174:R592H R - 2 0 PAPSS1 108754954 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.371000 0.79600 2.937000 0.99478 0.650000 0.86243 CGC PAPSS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253946.2 - ENST00000265174.4 Missense_Mutation SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB TRUB2 26995 broad.mit.edu 37 9 131077879 131077879 + Silent SNP G G A TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr9:131077879G>A ENST00000372890.4 - 4.0 678 c.345C>T c.(343-345)ctC>ctT p.L115L TRUB2_ENST00000546104.1_Silent_p.L59L|TRUB2_ENST00000460320.1_5'UTR NM_015679.1 NP_056494.1 O95900 TRUB2_HUMAN TruB pseudouridine (psi) synthase family member 2 115.0 pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033) poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982) p.L115L(1) kidney(2)|large_intestine(2)|lung(3)|ovary(1) 8.0 TATCGGTGAGGAGCCTGCATC 0.582 1 Substitution - coding silent(1) kidney(1) 87.0 65.0 72.0 9 131077879.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK001956 CCDS6897.1 9q34.11 2014-01-28 2013-09-02 ENSG00000167112 ENSG00000167112 26995.0 26995.0 17170.0 protein-coding gene gene with protein product 610727.0 """TruB pseudouridine (psi) synthase homolog 2 (E. coli)""" 12736709 Standard NM_015679 NM_015679 Approved CLONE24922 uc004buq.1 O95900 OTTHUMG00000020741 ENST00000372890.4:c.345C>T 9.__UNKNOWN__:g.131077879G>A B7Z7G5 __UNKNOWN__ CCDS6897.1 TRUB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054419.1 - ENST00000372890.4 Silent SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB GABRA6 2559 broad.mit.edu 37 5 161116048 161116048 + Missense_Mutation SNP A A T TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr5:161116048A>T ENST00000274545.5 + 4.0 752 c.319A>T c.(319-321)Atg>Ttg p.M107L GABRA6_ENST00000523217.1_Missense_Mutation_p.M97L|RP11-348M17.2_ENST00000521984.1_RNA Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 107.0 gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57.0 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) Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897) GAATAATTTGATGGTCAGTAA 0.413 TCGA Ovarian(5;0.080) 0 74.0 75.0 75.0 5 161116048.0 2203.0 4299.0 6502.0 SO:0001583 missense CCDS4356.1 5q34 2012-06-22 ENSG00000145863 ENSG00000145863 2559.0 2559.0 """GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors""" 4080.0 protein-coding gene gene with protein product """GABA(A) receptor, alpha 6""" 137143.0 8020978 Standard NM_000811 Approved uc003lyu.2 Q16445 OTTHUMG00000130351 ENST00000274545.5:c.319A>T 5.__UNKNOWN__:g.161116048A>T ENSP00000274545:p.Met107Leu A8K096|Q4VAV2 __UNKNOWN__ CCDS4356.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 17.84|17.84 3.486899|3.486899 0.63962|0.63962 .|. .|. ENSG00000145863|ENSG00000145863 ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691|ENST00000520000 T;T;T;T|. 0.78481|. -1.18;-1.18;-1.18;-1.02|. 5.65|5.65 5.65|5.65 0.86999|0.86999 Neurotransmitter-gated ion-channel ligand-binding (3);|. 0.000000|. 0.85682|. D|. 0.000000|. T|. 0.51517|. 0.1679|. N|N 0.17764|0.17764 0.52|0.52 0.58432|0.58432 D|D 0.999999|0.999999 B|. 0.31077|. 0.307|. B|. 0.43018|. 0.405|. T|. 0.48068|. -0.9067|. 10|. 0.34782|. T|. 0.22|. .|. 16.1778|16.1778 0.81874|0.81874 1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0 .|. 107|. Q16445|. GBRA6_HUMAN|. L|C 107;97;54;2|46 ENSP00000274545:M107L;ENSP00000430527:M97L;ENSP00000430212:M54L;ENSP00000427989:M2L|. ENSP00000274545:M107L|. M|X +|+ 1|3 0|0 GABRA6|GABRA6 161048626|161048626 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.991000|0.991000 0.79684|0.79684 9.176000|9.176000 0.94839|0.94839 2.279000|2.279000 0.76181|0.76181 0.533000|0.533000 0.62120|0.62120 ATG|TGA GABRA6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252707.2 + ENST00000274545.5 Missense_Mutation SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB SLC22A17 51310 broad.mit.edu 37 14 23820998 23820998 + Missense_Mutation SNP C C G TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr14:23820998C>G ENST00000206544.8 - 2.0 670 c.334G>C c.(334-336)Gcc>Ccc p.A112P SLC22A17_ENST00000397267.1_Missense_Mutation_p.A112P|SLC22A17_ENST00000397260.3_Intron|SLC22A17_ENST00000474057.1_Intron|SLC22A17_ENST00000354772.3_Missense_Mutation_p.A112P NM_020372.2 NP_065105.2 Q8WUG5 S22AH_HUMAN solute carrier family 22, member 17 112.0 ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891) integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773) transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857) breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15.0 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) TAGCCGGAGGCAAAGCCCAAG 0.622 0 75.0 63.0 67.0 14 23820998.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ243653 CCDS9593.1, CCDS9594.2 14q11.2 2013-05-22 2008-01-11 ENSG00000092096 ENSG00000092096 51310.0 51310.0 """Solute carriers""" 23095.0 protein-coding gene gene with protein product """neutrophil gelatinase-associated lipocalin receptor""" 611461.0 16377569 Standard NM_020372 NM_016609 Approved BOCT, BOIT, NGALR uc001wjl.3 Q8WUG5 OTTHUMG00000028740 ENST00000206544.8:c.334G>C 14.__UNKNOWN__:g.23820998C>G ENSP00000206544:p.Ala112Pro A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5 __UNKNOWN__ CCDS9593.1 . . . . . . . . . . C 17.45 3.391990 0.62066 . . ENSG00000092096 ENST00000354772;ENST00000206544;ENST00000397267 T;T;T 0.74842 -0.88;-0.88;-0.88 3.67 3.67 0.42095 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.211669 0.32244 U 0.006369 T 0.79329 0.4427 L 0.46157 1.445 0.29832 N 0.829947 D;D;D 0.64830 0.994;0.968;0.985 D;P;P 0.67900 0.954;0.526;0.486 T 0.75510 -0.3292 10 0.87932 D 0 -10.6459 10.5127 0.44870 0.0:0.8015:0.1985:0.0 . 112;112;112 Q8WUG5-3;Q8WUG5-2;Q8WUG5 .;.;S22AH_HUMAN P 112 ENSP00000346824:A112P;ENSP00000206544:A112P;ENSP00000380437:A112P ENSP00000206544:A112P A - 1 0 SLC22A17 22890838 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 1.055000 0.30467 1.867000 0.54127 0.462000 0.41574 GCC SLC22A17-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000157223.3 - ENST00000206544.8 Missense_Mutation SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB EPAS1 2034 broad.mit.edu 37 2 46607403 46607403 + Missense_Mutation SNP C C T TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr2:46607403C>T ENST00000263734.3 + 12.0 2102 c.1592C>T c.(1591-1593)cCc>cTc p.P531L NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 531.0 NTAD. angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601) cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134) 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) 39.0 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) ACACTGGCACCCTATATCCCC 0.592 0 85.0 93.0 91.0 2 46607403.0 2203.0 4300.0 6503.0 SO:0001583 missense U81984 CCDS1825.1 2p21-p16 2013-05-21 ENSG00000116016 ENSG00000116016 2034.0 2034.0 """Basic helix-loop-helix proteins""" 3374.0 protein-coding gene gene with protein product """HIF-1 alpha-like factor""" 603349.0 9000051, 9079689, 18378852 Standard NM_001430 NM_001430 Approved MOP2, PASD2, HIF2A, HLF, bHLHe73 uc002ruv.3 Q99814 OTTHUMG00000128818 ENST00000263734.3:c.1592C>T 2.__UNKNOWN__:g.46607403C>T ENSP00000263734:p.Pro531Leu Q86VA2|Q99630 __UNKNOWN__ CCDS1825.1 . . . . . . . . . . C 31 5.063493 0.93898 . . ENSG00000116016 ENST00000263734 D 0.99511 -6.05 5.06 5.06 0.68205 . 0.000000 0.85682 D 0.000000 D 0.99444 0.9803 M 0.70595 2.14 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.98897 1.0775 10 0.87932 D 0 . 18.4411 0.90666 0.0:1.0:0.0:0.0 . 531 Q99814 EPAS1_HUMAN L 531 ENSP00000263734:P531L ENSP00000263734:P531L P + 2 0 EPAS1 46460907 1.000000 0.71417 1.000000 0.80357 0.960000 0.62799 7.814000 0.86154 2.361000 0.80049 0.491000 0.48974 CCC EPAS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250752.2 + ENST00000263734.3 Missense_Mutation SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB PPP2R2C 5522 broad.mit.edu 37 4 6380190 6380190 + Missense_Mutation SNP T T C TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr4:6380190T>C ENST00000382599.4 - 3.0 494 c.278A>G c.(277-279)aAc>aGc p.N93S PPP2R2C_ENST00000335585.5_Missense_Mutation_p.N93S|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.N76S|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.N86S|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.N86S Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 93.0 regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165) protein phosphatase type 2A complex (GO:0000159) protein phosphatase type 2A regulator activity (GO:0008601) central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28.0 CTTGATCTTGTTGATCTTCTC 0.602 0 147.0 137.0 140.0 4 6380190.0 2203.0 4300.0 6503.0 SO:0001583 missense AF086924 CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1 4p16.1 2013-01-10 2010-04-14 ENSG00000074211 ENSG00000074211 5522.0 5522.0 3.1.3.16 """Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing""" 9306.0 protein-coding gene gene with protein product """PP2A subunit B isoform gamma""" 605997.0 """protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform""" 10574460, 10945473 Standard NM_181876 NM_020416 Approved PR52, IMYPNO, MGC33570, PR55G uc003gja.3 Q9Y2T4 OTTHUMG00000090445 ENST00000382599.4:c.278A>G 4.__UNKNOWN__:g.6380190T>C ENSP00000372042:p.Asn93Ser A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7 __UNKNOWN__ . . . . . . . . . . T 25.5 4.649048 0.87958 . . ENSG00000074211 ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294 T;T;T;T;T 0.28255 1.62;1.62;1.62;1.62;1.62 4.47 4.47 0.54385 Protein phosphatase 2A, regulatory subunit PR55, conserved site (1);WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1); 0.000000 0.85682 D 0.000000 T 0.50548 0.1622 M 0.69185 2.1 0.80722 D 1 D;D;D;D;D 0.67145 0.996;0.975;0.996;0.996;0.991 P;P;P;P;D 0.64410 0.858;0.847;0.902;0.858;0.925 T 0.55335 -0.8157 10 0.87932 D 0 -69.3607 13.3713 0.60715 0.0:0.0:0.0:1.0 . 86;189;93;76;93 B7Z3Y1;Q59GC6;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2 .;.;2ABG_HUMAN;.;. S 93;86;76;93;86 ENSP00000335083:N93S;ENSP00000423649:N86S;ENSP00000422374:N76S;ENSP00000372042:N93S;ENSP00000425247:N86S ENSP00000335083:N93S N - 2 0 PPP2R2C 6431091 1.000000 0.71417 1.000000 0.80357 0.926000 0.56050 7.244000 0.78228 2.017000 0.59298 0.260000 0.18958 AAC PPP2R2C-001 NOVEL overlapping_uORF|basic|appris_principal protein_coding protein_coding OTTHUMT00000206889.2 - ENST00000382599.4 Missense_Mutation SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB KCNJ12 3768 broad.mit.edu 37 17 21318660 21318660 + Silent SNP C C T rs148939916 byFrequency TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr17:21318660C>T ENST00000583088.1 + 3.0 901 c.6C>T c.(4-6)acC>acT p.T2T KCNJ12_ENST00000331718.5_Silent_p.T2T NM_021012.4 NP_066292.2 Q14500 KCJ12_HUMAN potassium inwardly-rectifying channel, subfamily J, member 12 2.0 muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268) integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886) inward rectifier potassium channel activity (GO:0005242) NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70.0 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204)|Yohimbine(DB01392) CCGGGATGACCGCGGCCAGCC 0.697 Prostate(3;0.18) 0 C 0,4402 0,0,2201 30.0 31.0 30.0 6 -10.7 0.0 17 dbSNP_134 30.0 17,8581 0,17,4282 no coding-synonymous KCNJ12 NM_021012.4 0,17,6483 TT,TC,CC 0.1977,0.0,0.1308 2/434 21318660.0 17,12983 2201.0 4299.0 6500.0 SO:0001819 synonymous_variant L36069 CCDS11219.1 17p11.1 2011-07-05 2004-01-13 ENSG00000184185 ENSG00000184185 3768.0 3768.0 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying""" 6258.0 protein-coding gene gene with protein product 602323.0 """potassium inwardly-rectifying channel, subfamily J, inhibitor 1""" KCNJN1 7859381, 12417321, 16382105 Standard NM_021012 NM_021012 Approved Kir2.2, Kir2.2v, IRK2, hIRK1 uc021tss.1 Q14500 OTTHUMG00000132039 ENST00000583088.1:c.6C>T 17.__UNKNOWN__:g.21318660C>T O43401|Q15756|Q8NG63 __UNKNOWN__ CCDS11219.1 KCNJ12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255060.2 + ENST00000583088.1 Silent SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB PARP1 142 broad.mit.edu 37 1 226570832 226570832 + Missense_Mutation SNP C C T TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr1:226570832C>T ENST00000366794.5 - 8.0 1207 c.1064G>A c.(1063-1065)cGt>cAt p.R355H NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 355.0 base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44.0 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) GGGGAATATACGGTCCTGTTT 0.498 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 0 119.0 147.0 138.0 1 226570832.0 2203.0 4300.0 6503.0 SO:0001583 missense BC037545 CCDS1554.1 1q41-q42 2010-02-16 2008-07-28 2004-08-26 ENSG00000143799 ENSG00000143799 142.0 142.0 2.4.2.30 """Poly (ADP-ribose) polymerases""" 270.0 protein-coding gene gene with protein product 173870.0 """ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1""" PPOL, ADPRT 10964595 Standard NM_001618 NM_001618 Approved PARP uc001hqd.4 P09874 OTTHUMG00000037556 ENST00000366794.5:c.1064G>A 1.__UNKNOWN__:g.226570832C>T ENSP00000355759:p.Arg355His B1ANJ4|Q8IUZ9 __UNKNOWN__ CCDS1554.1 . . . . . . . . . . C 22.8 4.340517 0.81911 . . ENSG00000143799 ENST00000366794 T 0.12984 2.63 5.27 5.27 0.74061 . 0.000000 0.85682 D 0.000000 T 0.21387 0.0515 N 0.08118 0 0.80722 D 1 D 0.89917 1.0 D 0.83275 0.996 T 0.35822 -0.9773 10 0.72032 D 0.01 . 18.5003 0.90878 0.0:1.0:0.0:0.0 . 355 P09874 PARP1_HUMAN H 355 ENSP00000355759:R355H ENSP00000355759:R355H R - 2 0 PARP1 224637455 1.000000 0.71417 0.941000 0.38009 0.382000 0.30200 6.773000 0.75006 2.446000 0.82766 0.561000 0.74099 CGT PARP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000091519.1 - ENST00000366794.5 Missense_Mutation SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB WDR62 284403 broad.mit.edu 37 19 36579971 36579971 + Silent SNP G G T TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr19:36579971G>T ENST00000401500.2 + 14.0 1835 c.1800G>T c.(1798-1800)ggG>ggT p.G600G WDR62_ENST00000270301.7_Silent_p.G600G NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 600.0 cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008) cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922) cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43.0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TCAGCTGTGGGGCTGACAAGA 0.627 0 81.0 62.0 69.0 19 36579971.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BX647726 CCDS33001.1, CCDS46059.1 19q13.12 2013-01-09 2005-05-09 2005-05-09 ENSG00000075702 ENSG00000075702 284403.0 284403.0 """WD repeat domain containing""" 24502.0 protein-coding gene gene with protein product 613583.0 """chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2""" C19orf14, MCPH2 19910486, 20729831, 20890278, 21496009 Standard NM_015671 NM_001083961 Approved DKFZP434J046, FLJ33298 uc002odd.2 O43379 OTTHUMG00000048139 ENST00000401500.2:c.1800G>T 19.__UNKNOWN__:g.36579971G>T Q63HP9|Q659D7|Q8NBF7|Q96AD9 __UNKNOWN__ CCDS46059.1 WDR62-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000109534.3 + ENST00000401500.2 Silent SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB WDR11 55717 broad.mit.edu 37 10 122662677 122662677 + Missense_Mutation SNP C C G TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr10:122662677C>G ENST00000263461.6 + 23.0 3110 c.2864C>G c.(2863-2865)cCt>cGt p.P955R WDR11_ENST00000604509.1_3'UTR NM_018117.11 NP_060587.8 Q8WWQ0 PHIP_HUMAN WD repeat domain 11 0.0 Mediates interaction with IRS1. {ECO:0000250}. cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38.0 GAAGCTGCTCCTCGAGACAAA 0.498 0 99.0 83.0 89.0 10 122662677.0 2203.0 4300.0 6503.0 SO:0001583 missense AF320223 CCDS7619.1 10q26 2013-01-21 2010-01-06 2010-01-06 ENSG00000120008 ENSG00000120008 55717.0 55717.0 """WD repeat domain containing""" 13831.0 protein-coding gene gene with protein product 606417.0 """bromodomain and WD repeat domain containing 2""" BRWD2 10718198, 11536051 Standard NM_018117 Approved KIAA1351, FLJ10506, WDR15, HH14, DR11 uc021pzt.1 Q9BZH6 OTTHUMG00000019171 ENST00000263461.6:c.2864C>G 10.__UNKNOWN__:g.122662677C>G ENSP00000263461:p.Pro955Arg A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261 __UNKNOWN__ CCDS7619.1 . . . . . . . . . . C 1.055 -0.674740 0.03378 . . ENSG00000120008 ENST00000263461 D 0.90504 -2.68 5.65 4.74 0.60224 . 0.245966 0.42821 D 0.000643 D 0.84247 0.5430 L 0.34521 1.04 0.20074 N 0.999933 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.04013 0.0;0.0;0.001;0.0 T 0.73183 -0.4063 10 0.38643 T 0.18 -3.2571 10.2308 0.43253 0.1372:0.7872:0.0:0.0756 . 955;955;246;484 Q9BZH6;B2RCJ6;Q9NWV7;Q659C9 WDR11_HUMAN;.;.;. R 955 ENSP00000263461:P955R ENSP00000263461:P955R P + 2 0 WDR11 122652667 0.001000 0.12720 0.040000 0.18447 0.032000 0.12392 1.407000 0.34657 1.512000 0.48834 0.655000 0.94253 CCT WDR11-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050707.2 + ENST00000263461.6 Missense_Mutation SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB PKHD1 5314 broad.mit.edu 37 6 51771115 51771115 + Missense_Mutation SNP C C A TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr6:51771115C>A ENST00000371117.3 - 41.0 6981 c.6706G>T c.(6706-6708)Gtg>Ttg p.V2236L PKHD1_ENST00000340994.4_Missense_Mutation_p.V2236L NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2236.0 cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337) anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372) receptor activity (GO:0004872) 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) 304.0 Lung NSC(77;0.0605) GAGTTCCTCACTGTGCAGCCC 0.438 0 69.0 69.0 69.0 6 51771115.0 2203.0 4300.0 6503.0 SO:0001583 missense AF480064 CCDS4935.1, CCDS4936.1 6p21.2-p12 2012-11-26 2003-04-16 ENSG00000170927 ENSG00000170927 5314.0 5314.0 9016.0 protein-coding gene gene with protein product """tigmin"", ""polyductin"", ""fibrocystin""" 606702.0 """TIG multiple domains 1""" TIGM1 9503014 Standard NM_138694 NM_138694 Approved ARPKD, FCYT uc003pah.1 P08F94 OTTHUMG00000014841 ENST00000371117.3:c.6706G>T 6.__UNKNOWN__:g.51771115C>A ENSP00000360158:p.Val2236Leu Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9 __UNKNOWN__ CCDS4935.1 . . . . . . . . . . C 12.03 1.815115 0.32053 . . ENSG00000170927 ENST00000371117;ENST00000340994;ENST00000393616 D;D 0.92397 -3.03;-3.03 5.25 1.4 0.22301 Pectin lyase fold/virulence factor (1);Pectin lyase fold (1); 0.197660 0.35207 N 0.003363 D 0.85801 0.5781 M 0.77103 2.36 0.09310 N 1 B;B 0.32071 0.22;0.355 B;B 0.37989 0.262;0.057 T 0.79140 -0.1926 10 0.42905 T 0.14 . 8.7278 0.34480 0.0:0.6892:0.0:0.3108 . 2236;2236 P08F94-2;P08F94 .;PKHD1_HUMAN L 2236 ENSP00000360158:V2236L;ENSP00000341097:V2236L ENSP00000341097:V2236L V - 1 0 PKHD1 51879074 0.008000 0.16893 0.004000 0.12327 0.118000 0.20060 0.111000 0.15458 0.215000 0.20761 -0.136000 0.14681 GTG PKHD1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000040893.1 - ENST00000371117.3 Missense_Mutation SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB NLRP8 126205 broad.mit.edu 37 19 56466123 56466123 + Silent SNP C C T TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr19:56466123C>T ENST00000291971.3 + 3.0 770 c.699C>T c.(697-699)taC>taT p.Y233Y NLRP8_ENST00000590542.1_Silent_p.Y233Y NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 233.0 NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}. neuron death (GO:0070997) cytoplasm (GO:0005737) ATP binding (GO:0005524) p.Y233Y(1) 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) 35.0 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) ACAAGTTCTACGCCCACAAGC 0.527 1 Substitution - coding silent(1) ovary(1) C 0,4406 0,0,2203 104.0 88.0 94.0 699 0.9 0.2 19 94.0 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous NLRP8 NM_176811.2 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 233/1049 56466123.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AY154463 CCDS12937.1 19q13.43 2008-02-05 2006-12-08 2006-12-08 ENSG00000179709 126205.0 126205.0 """Nucleotide-binding domain and leucine rich repeat containing""" 22940.0 protein-coding gene gene with protein product """nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8""" 609659.0 """NACHT, leucine rich repeat and PYD containing 8""" NALP8 12563287 Standard NM_176811 NM_176811 Approved NOD16, PAN4, CLR19.2 uc002qmh.3 Q86W28 ENST00000291971.3:c.699C>T 19.__UNKNOWN__:g.56466123C>T Q7RTR4 __UNKNOWN__ CCDS12937.1 NLRP8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457462.1 + ENST00000291971.3 Silent SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB MTMR10 54893 broad.mit.edu 37 15 31251152 31251152 + Silent SNP G G C TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr15:31251152G>C ENST00000435680.1 - 9.0 946 c.849C>G c.(847-849)ctC>ctG p.L283L MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000314404.8_Silent_p.L35L|MTMR10_ENST00000563714.1_Silent_p.L201L NM_017762.2 NP_060232.2 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 283.0 Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}. phosphatase activity (GO:0016791) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 9.0 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) TCCAGCACCAGAGCTAGGGGA 0.478 0 119.0 115.0 117.0 15 31251152.0 1985.0 4154.0 6139.0 SO:0001819 synonymous_variant AK000320 CCDS45204.1 15q13.3 2011-06-09 ENSG00000166912 54893.0 54893.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins""" 25999.0 protein-coding gene gene with protein product 12495846 Standard NM_017762 NM_017762 Approved FLJ20313 uc001zfh.1 Q9NXD2 ENST00000435680.1:c.849C>G 15.__UNKNOWN__:g.31251152G>C Q6P4Q6 __UNKNOWN__ CCDS45204.1 MTMR10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000430747.1 - ENST00000435680.1 Silent SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB ZXDC 79364 broad.mit.edu 37 3 126178522 126178522 + Frame_Shift_Del DEL T T - TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr3:126178522delT ENST00000389709.3 - 7.0 2239 c.2186delA c.(2185-2187)aagfs p.K729fs NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 729.0 positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17.0 GBM - Glioblastoma multiforme(114;0.155) TCCTCTCTGCTTTTTTTCCTT 0.522 0 288.0 315.0 306.0 3 126178522.0 2005.0 4167.0 6172.0 SO:0001589 frameshift_variant AK023923 CCDS43145.1, CCDS43146.1 3q21.3 2014-02-12 ENSG00000070476 ENSG00000070476 79364.0 79364.0 """Zinc fingers, C2H2-type""" 28160.0 protein-coding gene gene with protein product 615746.0 8619474, 9110174 Standard NM_025112 XM_005247757 Approved MGC11349, FLJ13861 uc003eiv.3 Q2QGD7 OTTHUMG00000162754 ENST00000389709.3:c.2186delA 3.__UNKNOWN__:g.126178522delT ENSP00000374359:p.Lys729fs C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2 __UNKNOWN__ CCDS43145.1 ZXDC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000370327.2 - ENST00000389709.3 Frame_Shift_Del DEL PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB Unknown 347028 bcgsc.ca 37 8 43125753 43125753 + RNA SNP G G A TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr8:43125753G>A HGSNAT (67755 upstream) : POTEA (21872 downstream) CAGGATATCCGGTTGATTGGT 0.483 0 SO:0001628 intergenic_variant 8.__UNKNOWN__:g.43125753G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB Unknown 399774 bcgsc.ca 37 10 54171962 54171962 + RNA SNP T T C TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr10:54171962T>C DKK1 (94545 upstream) : RP11-346D6.6 (38671 downstream) AAATATGGAGTATTGTCGTGG 0.388 0 SO:0001628 intergenic_variant 10.__UNKNOWN__:g.54171962T>C __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB Unknown 0 bcgsc.ca 37 12 68868553 68868553 + RNA SNP G G A TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr12:68868553G>A RP11-71J4.2 (124814 upstream) : RAP1B (136065 downstream) CCTGAGAAATGTTTGTACTGA 0.413 0 SO:0001628 intergenic_variant 12.__UNKNOWN__:g.68868553G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB TIE1 7075 bcgsc.ca 37 1 43774621 43774621 + Silent SNP T T A TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr1:43774621T>A ENST00000372476.3 + 8.0 1121 TIE1_ENST00000538015.1_Silent_p.P374P|TIE1_ENST00000433781.2_Intron|TIE1_ENST00000441333.2_Intron NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570) integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70.0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGTCTGCCCCTGTGGGAGCTC 0.582 0 55.0 46.0 49.0 1 43774621.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant BC038239 CCDS482.1 1p34-p33 2013-02-11 2004-12-13 2004-12-14 ENSG00000066056 ENSG00000066056 7075.0 7075.0 2.7.10.1 """Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 11809.0 protein-coding gene gene with protein product 600222 """tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1""" TIE 1312667 Standard NM_005424 NM_005424 Approved JTK14 uc001ciu.3 P35590 OTTHUMG00000007282 ENST00000372476.3:c.1043-36T>A 1.__UNKNOWN__:g.43774621T>A B5A949|B5A950 __UNKNOWN__ CCDS482.1 TIE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000019011.1 + ENST00000372476.3 Intron SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB CTSD 1509 ucsc.edu 37 11 1780861 1780861 + Nonsense_Mutation SNP G G T TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr11:1780861G>T ENST00000236671.2 - 3.0 369 c.237C>A c.(235-237)taC>taA p.Y79* NM_001909.4 NP_001900.1 P07339 CATD_HUMAN cathepsin D 79.0 antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739) aspartic-type endopeptidase activity (GO:0004190) endometrium(1)|large_intestine(4)|lung(8) 13.0 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) """""""Insulin(DB00071)|Insulin Regular(DB00030)""" TCTCCCCGTAGTACTGGGCCT 0.672 0 41.0 44.0 43.0 11 1780861.0 2201.0 4299.0 6500.0 SO:0001587 stop_gained M11233 CCDS7725.1 11p15.5 2009-06-26 2006-12-05 ENSG00000117984 ENSG00000117984 1509.0 1509.0 3.4.23.5 """Cathepsins""" 2529.0 protein-coding gene gene with protein product """ceroid-lipofuscinosis, neuronal 10""" 116840 """cathepsin D (lysosomal aspartyl protease)""" CPSD 3927292 Standard NM_001909 NM_001909 Approved CLN10 uc001luc.2 P07339 OTTHUMG00000044760 ENST00000236671.2:c.237C>A 11.__UNKNOWN__:g.1780861G>T ENSP00000236671:p.Tyr79* Q6IB57 __UNKNOWN__ CCDS7725.1 . . . . . . . . . . g 21.6 4.167258 0.78339 . . ENSG00000117984 ENST00000236671;ENST00000438213;ENST00000367196 . . . 4.2 3.29 0.37713 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 7.7028 0.28632 0.2579:0.0:0.7421:0.0 . . . . X 79;64;44 . ENSP00000236671:Y79X Y - 3 2 CTSD 1737437 1.000000 0.71417 1.000000 0.80357 0.471000 0.32888 1.698000 0.37794 0.897000 0.36392 -0.348000 0.07805 TAC CTSD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000104272.5 - ENST00000236671.2 Nonsense_Mutation SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB MYOZ1 58529 hgsc.bcm.edu 37 10 75391915 75391915 + Missense_Mutation SNP C C T TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 C C . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr10:75391915C>T ENST00000359322.4 - 6.0 1037 c.673G>A c.(673-675)Gca>Aca p.A225T NM_021245.3 NP_067068.1 myozenin 1 central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12.0 Prostate(51;0.0112) TAGGGCATTGCCGTCCTGAGA 0.473 0 62.0 56.0 58.0 10 75391915.0 2203.0 4300.0 6503.0 SO:0001583 missense AF240633 CCDS7330.1 10q22.1 2008-07-03 2002-01-10 2002-01-11 ENSG00000177791 ENSG00000177791 58529.0 58529.0 13752.0 protein-coding gene gene with protein product """calsarcin-2""" 605603 """myozenin""" MYOZ 11171996, 10984498 Standard NM_021245 Approved FATZ, CS-2 uc001jur.4 Q9NP98 OTTHUMG00000018466 ENST00000359322.4:c.673G>A 10.__UNKNOWN__:g.75391915C>T ENSP00000352272:p.Ala225Thr __UNKNOWN__ CCDS7330.1 . . . . . . . . . . C 33 5.262013 0.95368 . . ENSG00000177791 ENST00000359322 T 0.73789 -0.78 5.63 5.63 0.86233 . 0.000000 0.85682 D 0.000000 D 0.88020 0.6325 M 0.83118 2.625 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.88900 0.3352 10 0.72032 D 0.01 -12.6925 19.6772 0.95941 0.0:1.0:0.0:0.0 . 225 Q9NP98 MYOZ1_HUMAN T 225 ENSP00000352272:A225T ENSP00000352272:A225T A - 1 0 MYOZ1 75061921 1.000000 0.71417 0.992000 0.48379 0.971000 0.66376 7.466000 0.80914 2.656000 0.90262 0.655000 0.94253 GCA MYOZ1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048654.1 - ENST00000359322.4 Missense_Mutation SNP PCPG-TCGA-QT-A7U0-Normal-SM-5EQGB PSME4 23198 broad.mit.edu 37 2 54124014 54124014 + Silent SNP G G T TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr2:54124014G>T ENST00000404125.1 - 32.0 3670 c.3615C>A c.(3613-3615)atC>atA p.I1205I PSME4_ENST00000421748.2_Silent_p.I349I NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1205.0 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032) cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111) lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504) breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60.0 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CAACAGCTGAGATAGCCATCT 0.353 0 165.0 171.0 169.0 2 54124014.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D38521 CCDS33197.2 2p16.1 2003-04-14 ENSG00000068878 ENSG00000068878 23198.0 23198.0 """Proteasome (prosome, macropain) subunits""" 20635.0 protein-coding gene gene with protein product 607705.0 7584044, 12093752 Standard XM_040158 NM_014614 Approved PA200, KIAA0077 uc002rxp.2 Q14997 OTTHUMG00000151852 ENST00000404125.1:c.3615C>A 2.__UNKNOWN__:g.54124014G>T Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8 __UNKNOWN__ CCDS33197.2 PSME4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000324163.1 - ENST00000404125.1 Silent SNP PCPG-TCGA-RM-A68T-Normal-SM-5EQGX PLEKHA7 144100 broad.mit.edu 37 11 16823313 16823313 + Nonsense_Mutation SNP G G A TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr11:16823313G>A ENST00000531066.1 - 16.0 2250 c.2209C>T c.(2209-2211)Cga>Tga p.R737* PLEKHA7_ENST00000355661.3_Nonsense_Mutation_p.R737*|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R737*|PLEKHA7_ENST00000532079.1_Intron Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 737.0 epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218) centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915) delta-catenin binding (GO:0070097) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37.0 GGCTGGTCTCGGTACTGCTCC 0.557 0 114.0 104.0 107.0 11 16823313.0 2200.0 4294.0 6494.0 SO:0001587 stop_gained BC033239 CCDS31434.1 11p15 2013-01-10 ENSG00000166689 ENSG00000166689 144100.0 144100.0 """Pleckstrin homology (PH) domain containing""" 27049.0 protein-coding gene gene with protein product 612686.0 12477932 Standard NM_175058 NM_175058 Approved DKFZp686M22243 uc001mmo.3 Q6IQ23 OTTHUMG00000165954 ENST00000531066.1:c.2209C>T 11.__UNKNOWN__:g.16823313G>A ENSP00000435389:p.Arg737* B4DK33|B4DWC3|Q86VZ7 __UNKNOWN__ . . . . . . . . . . G 39 7.682262 0.98431 . . ENSG00000166689 ENST00000531066;ENST00000355661;ENST00000448080;ENST00000525581 . . . 5.88 3.84 0.44239 . 0.164390 0.52532 D 0.000074 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.07813 T 0.8 -10.7591 13.1816 0.59657 0.0:0.0:0.5978:0.4022 . . . . X 737;737;737;68 . ENSP00000347883:R737X R - 1 2 PLEKHA7 16779889 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 2.648000 0.46647 0.753000 0.32945 0.555000 0.69702 CGA PLEKHA7-002 PUTATIVE not_organism_supported|basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000387236.1 - ENST00000531066.1 Nonsense_Mutation SNP PCPG-TCGA-RM-A68T-Normal-SM-5EQGX TANK 10010 broad.mit.edu 37 2 162061273 162061273 + Missense_Mutation SNP T T C TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr2:162061273T>C ENST00000405852.1 + 4.0 393 c.296T>C c.(295-297)aTt>aCt p.I99T TANK_ENST00000259075.2_Missense_Mutation_p.I99T|TANK_ENST00000457476.1_Missense_Mutation_p.I99T|TANK_ENST00000392749.2_Missense_Mutation_p.I99T|TANK_ENST00000403609.1_Missense_Mutation_p.I99T|TANK_ENST00000402568.1_Missense_Mutation_p.I158T|TANK_ENST00000406287.1_Missense_Mutation_p.I157T Q92844 TANK_HUMAN TRAF family member-associated NFKB activator 99.0 I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytosol (GO:0005829) metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1) 21.0 GATAAAGTGATTTCAGGAATA 0.363 0 78.0 80.0 80.0 2 162061273.0 2203.0 4300.0 6503.0 SO:0001583 missense U59863 CCDS2215.1, CCDS46436.1 2q24-q31 2008-02-05 ENSG00000136560 ENSG00000136560 10010.0 10010.0 11562.0 protein-coding gene gene with protein product 603893.0 TRAF2 8710854, 8855313 Standard NM_133484 NM_004180 Approved I-TRAF uc002ubr.2 Q92844 OTTHUMG00000132037 ENST00000405852.1:c.296T>C 2.__UNKNOWN__:g.162061273T>C ENSP00000385487:p.Ile99Thr D3DPB5|Q7Z4J6|Q92885 __UNKNOWN__ . . . . . . . . . . T 1.040 -0.679184 0.03378 . . ENSG00000136560 ENST00000259075;ENST00000432002;ENST00000457476;ENST00000392749;ENST00000440506;ENST00000429217;ENST00000406287;ENST00000402568;ENST00000405852;ENST00000456358;ENST00000403609 T;T;T 0.28895 2.03;2.03;1.59 5.55 4.35 0.52113 . 0.317042 0.31612 N 0.007349 T 0.15782 0.0380 N 0.08118 0 0.26606 N 0.972927 B;B 0.09022 0.0;0.002 B;B 0.04013 0.0;0.001 T 0.14420 -1.0473 10 0.34782 T 0.22 -8.8569 10.2528 0.43379 0.8324:0.0:0.0:0.1676 . 99;99 Q92844;Q7Z4J6 TANK_HUMAN;. T 99;100;99;99;99;100;157;158;99;125;99 ENSP00000259075:I99T;ENSP00000376505:I99T;ENSP00000385487:I99T ENSP00000259075:I99T I + 2 0 TANK 161769519 1.000000 0.71417 0.998000 0.56505 0.382000 0.30200 1.962000 0.40442 0.962000 0.38057 -0.503000 0.04515 ATT TANK-004 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000324234.1 + ENST00000405852.1 Missense_Mutation SNP PCPG-TCGA-RM-A68T-Normal-SM-5EQGX FAM166A 401565 broad.mit.edu 37 9 140139813 140139813 + Silent SNP C C A TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr9:140139813C>A ENST00000344774.4 - 3.0 522 c.468G>T c.(466-468)ggG>ggT p.G156G FAM166A_ENST00000388932.2_Silent_p.G156G NM_001001710.1 NP_001001710.1 Q6J272 F166A_HUMAN family with sequence similarity 166, member A 156.0 nucleus (GO:0005634) kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2) 15.0 AGGCCTCTTCCCCGTATACTG 0.657 0 75.0 76.0 76.0 9 140139813.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC132916 CCDS35186.1 9q34.3 2008-08-08 ENSG00000188163 ENSG00000188163 401565.0 401565.0 33818.0 protein-coding gene gene with protein product Standard NM_001001710 XR_245332 Approved uc004cmi.1 Q6J272 OTTHUMG00000159545 ENST00000344774.4:c.468G>T 9.__UNKNOWN__:g.140139813C>A A6NND9|Q8N830 __UNKNOWN__ CCDS35186.1 FAM166A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356125.1 - ENST00000344774.4 Silent SNP PCPG-TCGA-RM-A68T-Normal-SM-5EQGX PPRC1 23082 broad.mit.edu 37 10 103904019 103904019 + Missense_Mutation SNP G G A TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr10:103904019G>A ENST00000278070.2 + 7.0 3602 c.3563G>A c.(3562-3564)tGt>tAt p.C1188Y PPRC1_ENST00000370012.1_Missense_Mutation_p.C155Y|PPRC1_ENST00000413464.2_Missense_Mutation_p.C1188Y|PPRC1_ENST00000489648.1_3'UTR NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1188.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) 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) 56.0 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) AAAAAGGAGTGTCCTCCTCCG 0.522 0 93.0 87.0 89.0 10 103904019.0 2203.0 4300.0 6503.0 SO:0001583 missense AF325193 CCDS7529.1, CCDS73186.1 10q24.32 2013-02-12 2006-10-17 ENSG00000148840 ENSG00000148840 23082.0 23082.0 """RNA binding motif (RRM) containing""" 30025.0 protein-coding gene gene with protein product """peroxisome proliferative activated receptor, gamma, coactivator-related 1""" 9628581, 11340167 Standard NM_015062 XM_005269656 Approved PRC, KIAA0595, MGC74642 uc001kum.3 Q5VV67 OTTHUMG00000018948 ENST00000278070.2:c.3563G>A 10.__UNKNOWN__:g.103904019G>A ENSP00000278070:p.Cys1188Tyr Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0 __UNKNOWN__ CCDS7529.1 . . . . . . . . . . G 16.19 3.053112 0.55218 . . ENSG00000148840 ENST00000278070;ENST00000413464;ENST00000370012 T;T;T 0.32753 1.82;1.82;1.44 5.25 4.28 0.50868 . 0.447688 0.25584 N 0.029676 T 0.30448 0.0765 L 0.36672 1.1 0.27522 N 0.95136 P;P;P 0.51653 0.947;0.924;0.947 P;P;P 0.51135 0.556;0.66;0.556 T 0.11518 -1.0584 10 0.56958 D 0.05 . 7.1033 0.25351 0.0917:0.2701:0.6382:0.0 . 1188;1068;1188 E7EVG6;Q5VV67-2;Q5VV67 .;.;PPRC1_HUMAN Y 1188;1188;155 ENSP00000278070:C1188Y;ENSP00000399743:C1188Y;ENSP00000359029:C155Y ENSP00000278070:C1188Y C + 2 0 PPRC1 103894009 0.998000 0.40836 1.000000 0.80357 0.992000 0.81027 2.711000 0.47177 2.469000 0.83416 0.491000 0.48974 TGT PPRC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050021.1 + ENST00000278070.2 Missense_Mutation SNP PCPG-TCGA-RM-A68T-Normal-SM-5EQGX ROBO1 6091 broad.mit.edu 37 3 78719367 78719367 + Missense_Mutation SNP C C T TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr3:78719367C>T ENST00000464233.1 - 11.0 1540 c.1427G>A c.(1426-1428)tGt>tAt p.C476Y ROBO1_ENST00000436010.2_Missense_Mutation_p.C437Y|ROBO1_ENST00000495273.1_Missense_Mutation_p.C440Y|ROBO1_ENST00000467549.1_Missense_Mutation_p.C440Y NM_002941.3 NP_002932.1 Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 476.0 Ig-like C2-type 5. activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385) axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275) breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44.0 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) TGTGGCCACACAGCTGAGGAC 0.517 0 50.0 50.0 50.0 3 78719367.0 1974.0 4172.0 6146.0 SO:0001583 missense AF040990 CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1 3p12.3 2013-02-11 2001-11-28 ENSG00000169855 ENSG00000169855 6091.0 6091.0 """Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 10249.0 protein-coding gene gene with protein product 602430.0 """roundabout (axon guidance receptor, Drosophila) homolog 1""" 9458045, 9608531 Standard NM_002941 NM_002941 Approved DUTT1, FLJ21882, SAX3 uc003dqe.2 Q9Y6N7 OTTHUMG00000158843 ENST00000464233.1:c.1427G>A 3.__UNKNOWN__:g.78719367C>T ENSP00000420321:p.Cys476Tyr B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7 __UNKNOWN__ CCDS54611.1 . . . . . . . . . . C 27.3 4.819792 0.90873 . . ENSG00000169855 ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414;ENST00000495961 T;T;T;T;D 0.89123 -0.57;-0.57;-0.57;-0.57;-2.47 5.98 5.98 0.97165 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.85682 D 0.000000 D 0.97604 0.9215 H 0.99619 4.66 0.80722 D 1 D;D;D;D;D;D 0.89917 0.998;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D 0.97110 0.999;1.0;1.0;1.0;1.0;1.0 D 0.98623 1.0668 9 . . . . 20.452 0.99131 0.0:1.0:0.0:0.0 . 440;440;476;440;440;437 Q9Y6N7-3;Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4 .;.;ROBO1_HUMAN;.;.;. Y 437;440;476;440;440;476;9 ENSP00000406043:C437Y;ENSP00000420321:C476Y;ENSP00000420637:C440Y;ENSP00000417992:C440Y;ENSP00000418553:C9Y . C - 2 0 ROBO1 78802057 1.000000 0.71417 1.000000 0.80357 0.969000 0.65631 7.487000 0.81328 2.838000 0.97847 0.591000 0.81541 TGT ROBO1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352610.1 - ENST00000464233.1 Missense_Mutation SNP PCPG-TCGA-RM-A68T-Normal-SM-5EQGX ANKRD55 79722 broad.mit.edu 37 5 55407048 55407048 + Silent SNP C C A TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr5:55407048C>A ENST00000341048.4 - 10.0 1678 c.1527G>T c.(1525-1527)gtG>gtT p.V509V ANKRD55_ENST00000504958.2_Silent_p.V466V|ANKRD55_ENST00000434982.2_Silent_p.V221V NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 509.0 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34.0 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) CAGAAGAAGACACAGTCCAAA 0.453 0 142.0 146.0 144.0 5 55407048.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK021857 CCDS34161.1 5q11.2 2013-01-10 ENSG00000164512 ENSG00000164512 79722.0 79722.0 """Ankyrin repeat domain containing""" 25681.0 protein-coding gene gene with protein product 615189.0 Standard NM_024669 XM_005248599 Approved FLJ11795 uc003jqu.3 Q3KP44 OTTHUMG00000162305 ENST00000341048.4:c.1527G>T 5.__UNKNOWN__:g.55407048C>A B3KVT8|Q3KP45|Q9HAD3 __UNKNOWN__ CCDS34161.1 ANKRD55-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000368510.4 - ENST00000341048.4 Silent SNP PCPG-TCGA-RM-A68T-Normal-SM-5EQGX JAG2 3714 broad.mit.edu 37 14 105634399 105634399 + Missense_Mutation SNP G G A TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr14:105634399G>A ENST00000331782.3 - 2.0 515 c.112C>T c.(112-114)Cgg>Tgg p.R38W JAG2_ENST00000347004.2_Missense_Mutation_p.R38W|RP11-44N21.4_ENST00000548203.1_RNA NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 38.0 auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112) breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22.0 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) TTCACGTTCCGCAGCGCGCTC 0.726 0 11.0 13.0 12.0 14 105634399.0 2132.0 4145.0 6277.0 SO:0001583 missense AF020201 CCDS9998.1, CCDS9999.1 14q32 2008-08-01 ENSG00000184916 ENSG00000184916 3714.0 3714.0 6189.0 protein-coding gene gene with protein product 602570.0 9315665, 10662552 Standard NM_002226 Approved uc001yqg.4 Q9Y219 OTTHUMG00000140172 ENST00000331782.3:c.112C>T 14.__UNKNOWN__:g.105634399G>A ENSP00000328169:p.Arg38Trp Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0 __UNKNOWN__ CCDS9998.1 . . . . . . . . . . G 15.25 2.778260 0.49786 . . ENSG00000184916 ENST00000331782;ENST00000347004 D;D 0.97665 -4.48;-4.48 2.33 1.2 0.21068 Notch ligand, N-terminal (1); 0.448802 0.19148 U 0.121501 D 0.95806 0.8635 L 0.27053 0.805 0.31547 N 0.65922 D;D 0.76494 0.998;0.999 P;D 0.65443 0.9;0.935 D 0.93203 0.6593 10 0.87932 D 0 . 8.5247 0.33298 0.0:0.0:0.6429:0.3571 . 38;38 Q9Y219-2;Q9Y219 .;JAG2_HUMAN W 38 ENSP00000328169:R38W;ENSP00000328566:R38W ENSP00000328169:R38W R - 1 2 JAG2 104705444 0.412000 0.25392 1.000000 0.80357 0.525000 0.34531 0.086000 0.14935 1.170000 0.42753 0.089000 0.15464 CGG JAG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276506.2 - ENST00000331782.3 Missense_Mutation SNP PCPG-TCGA-RM-A68T-Normal-SM-5EQGX SPDYE3 441272 broad.mit.edu 37 7 99912168 99912168 + Translation_Start_Site SNP T T G TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr7:99912168T>G ENST00000332397.6 + 6.0 1180 c.996T>G c.(994-996)gaT>gaG p.D332E SPDYE3_ENST00000437326.2_De_novo_Start_OutOfFrame NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 332.0 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20.0 CTGGGGTAGATCCCAGCCCCC 0.572 0 SO:0001583 missense BC056606 CCDS47658.1, CCDS47658.2 7q22.1 2013-05-08 2013-05-08 ENSG00000214300 ENSG00000214300 441272.0 441272.0 """Speedy homologs""" 35462.0 protein-coding gene gene with protein product """speedy homolog E3 (Xenopus laevis)""" Standard NM_001004351 NM_001004351 Approved uc022aij.1 A6NKU9 OTTHUMG00000155462 ENST00000332397.6:c.996T>G 7.__UNKNOWN__:g.99912168T>G ENSP00000329565:p.Asp332Glu Q495Y9|Q6PHC4 __UNKNOWN__ CCDS47658.2 . . . . . . . . . . T 1.458 -0.563169 0.03939 . . ENSG00000214300 ENST00000332397 . . . . . . . . . . . T 0.26376 0.0644 L 0.29908 0.895 0.09310 N 0.999997 . . . . . . T 0.26121 -1.0112 4 0.37606 T 0.19 . . . . . . . . E 332 . ENSP00000329565:D332E D + 3 2 SPDYE3 99750104 0.998000 0.40836 0.031000 0.17742 0.032000 0.12392 0.670000 0.25157 0.131000 0.18576 0.130000 0.15844 GAT SPDYE3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000340224.2 + ENST00000332397.6 Missense_Mutation SNP PCPG-TCGA-RM-A68T-Normal-SM-5EQGX SAA2 6289 broad.mit.edu 37 11 18266989 18266989 + Missense_Mutation SNP T T C TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr11:18266989T>C ENST00000528349.1 - 3.0 267 SAA2_ENST00000529528.1_Missense_Mutation_p.K102E|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000414546.2_Intron|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000526900.1_Missense_Mutation_p.K102E|SAA2_ENST00000256733.4_Missense_Mutation_p.K102E P0DJI9 SAA2_HUMAN serum amyloid A2 acute-phase response (GO:0006953) extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364) p.K102E(2) central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1) 6.0 CTGCCCCATTTATTGGCAGCC 0.572 2 Substitution - Missense(2) prostate(1)|central_nervous_system(1) 93.0 83.0 86.0 11 18266989.0 2199.0 4293.0 6492.0 SO:0001627 intron_variant M26152 CCDS7833.1, CCDS44548.1 11p15.1-p14 2008-07-21 ENSG00000134339 ENSG00000134339 6289.0 6289.0 10514.0 protein-coding gene gene with protein product 104751.0 7686132 Standard NM_030754 NM_030754 Approved P0DJI9 OTTHUMG00000166484 ENST00000528349.1:c.230+467A>G 11.__UNKNOWN__:g.18266989T>C G3XAK9|P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0 __UNKNOWN__ . . . . . . . . . . T 3.365 -0.129679 0.06753 . . ENSG00000134339 ENST00000256733;ENST00000529528;ENST00000526900 T;T;T 0.08720 3.06;3.06;3.06 5.01 -10.0 0.00425 . 1.240460 0.05687 N 0.591555 T 0.02193 0.0068 . . . 0.09310 N 1 . . . . . . T 0.41840 -0.9486 7 0.02654 T 1 . 8.2109 0.31483 0.0:0.2224:0.3585:0.4191 . . . . E 102 ENSP00000256733:K102E;ENSP00000437162:K102E;ENSP00000436126:K102E ENSP00000256733:K102E K - 1 0 SAA2 18223565 0.000000 0.05858 0.000000 0.03702 0.207000 0.24258 -3.966000 0.00324 -1.715000 0.01389 -0.147000 0.13772 AAA SAA2-005 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000389980.1 - ENST00000528349.1 Intron SNP PCPG-TCGA-RM-A68T-Normal-SM-5EQGX ZNF341 84905 broad.mit.edu 37 20 32336747 32336747 + Missense_Mutation SNP G G A TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr20:32336747G>A ENST00000342427.2 + 4.0 723 c.358G>A c.(358-360)Gtg>Atg p.V120M ZNF341_ENST00000375200.1_Missense_Mutation_p.V120M NM_032819.3 NP_116208.3 Q9BYN7 ZN341_HUMAN zinc finger protein 341 120.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31.0 ATACATCACAGTGCCCCCGTC 0.552 0 150.0 109.0 123.0 20 32336747.0 2203.0 4300.0 6503.0 SO:0001583 missense AK027550 CCDS13227.1, CCDS74719.1 20q11.22 2013-01-08 ENSG00000131061 ENSG00000131061 84905.0 84905.0 """Zinc fingers, C2H2-type""" 15992.0 protein-coding gene gene with protein product Standard NM_001282933 Approved dJ553F4.3 uc002wzx.3 Q9BYN7 OTTHUMG00000032275 ENST00000342427.2:c.358G>A 20.__UNKNOWN__:g.32336747G>A ENSP00000344308:p.Val120Met A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5 __UNKNOWN__ CCDS13227.1 . . . . . . . . . . G 22.6 4.305009 0.81247 . . ENSG00000131061 ENST00000342427;ENST00000375200 T;T 0.13538 2.83;2.58 5.8 5.8 0.92144 . 0.000000 0.85682 D 0.000000 T 0.37376 0.1001 L 0.58101 1.795 0.80722 D 1 D;D;D 0.89917 1.0;0.999;1.0 D;D;D 0.91635 0.998;0.997;0.999 T 0.01212 -1.1417 10 0.54805 T 0.06 -22.9712 20.1149 0.97924 0.0:0.0:1.0:0.0 . 61;120;120 Q504V9;Q9BYN7;Q9BYN7-2 .;ZN341_HUMAN;. M 120 ENSP00000344308:V120M;ENSP00000364346:V120M ENSP00000344308:V120M V + 1 0 ZNF341 31800408 1.000000 0.71417 0.995000 0.50966 0.973000 0.67179 9.273000 0.95719 2.761000 0.94854 0.650000 0.86243 GTG ZNF341-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078741.2 + ENST00000342427.2 Missense_Mutation SNP PCPG-TCGA-RM-A68T-Normal-SM-5EQGX ABCC9 10060 broad.mit.edu 37 12 22025622 22025622 + Missense_Mutation SNP G G A TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr12:22025622G>A ENST00000261200.4 - 16.0 2134 c.2135C>T c.(2134-2136)tCc>tTc p.S712F RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.S712F|ABCC9_ENST00000345162.2_Missense_Mutation_p.S676F NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 712.0 ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}. defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215) 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) 118.0 Adenosine triphosphate(DB00171)|Glyburide(DB01016) GAGAAGAGAGGACTTCCCACA 0.418 0 250.0 241.0 244.0 12 22025622.0 2203.0 4300.0 6503.0 SO:0001583 missense AF061323 CCDS8693.1, CCDS8694.1 12p12.1 2014-09-17 ENSG00000069431 ENSG00000069431 10060.0 10060.0 """ATP binding cassette transporters / subfamily C""" 60.0 protein-coding gene gene with protein product """sulfonylurea receptor 2""" 601439.0 9457174, 15034580 Standard NM_005691 NM_020297 Approved SUR2, CMD1O uc001rfh.3 O60706 OTTHUMG00000169094 ENST00000261200.4:c.2135C>T 12.__UNKNOWN__:g.22025622G>A ENSP00000261200:p.Ser712Phe O60707 __UNKNOWN__ CCDS8693.1 . . . . . . . . . . G 28.1 4.886526 0.91814 . . ENSG00000069431 ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162 D;D;D;D 0.97888 -4.59;-4.59;-4.59;-4.59 5.53 5.53 0.82687 ATPase, AAA+ type, core (1);ABC transporter-like (2); 0.053864 0.85682 D 0.000000 D 0.99324 0.9763 H 0.98005 4.125 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.98607 1.0661 10 0.87932 D 0 -10.9076 19.4298 0.94759 0.0:0.0:1.0:0.0 . 712;712 O60706;O60706-2 ABCC9_HUMAN;. F 712;339;712;676 ENSP00000261200:S712F;ENSP00000440521:S339F;ENSP00000261201:S712F;ENSP00000261202:S676F ENSP00000261200:S712F S - 2 0 ABCC9 21916889 1.000000 0.71417 0.998000 0.56505 0.975000 0.68041 9.581000 0.98210 2.757000 0.94681 0.563000 0.77884 TCC ABCC9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402228.1 - ENST00000261200.4 Missense_Mutation SNP PCPG-TCGA-RM-A68T-Normal-SM-5EQGX LINC00478 0 broad.mit.edu 37 21 17763944 17763944 + RNA SNP T T A TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr21:17763944T>A ENST00000458468.1 + 0.0 469 NR_027790.1 GAGCTCTTTCTGAGATGAAGA 0.308 0 59.0 60.0 60.0 21 17763944.0 2203.0 4300.0 6503.0 ENST00000458468.1: 21.__UNKNOWN__:g.17763944T>A __UNKNOWN__ LINC00478-001 KNOWN basic lincRNA lincRNA OTTHUMT00000158029.1 + ENST00000458468.1 lincRNA SNP PCPG-TCGA-RM-A68T-Normal-SM-5EQGX BAHD1 22893 broad.mit.edu 37 15 40758272 40758272 + Frame_Shift_Del DEL C C - TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr15:40758272delC ENST00000416165.1 + 7.0 2357 c.2286delC c.(2284-2286)ttcfs p.F762fs BAHD1_ENST00000560846.1_Frame_Shift_Del_p.F759fs|RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000561234.1_Frame_Shift_Del_p.F761fs NM_014952.3 NP_055767.3 Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 762.0 BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}. heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) chromatin silencing complex (GO:0005677)|chromosome (GO:0005694) chromatin binding (GO:0003682) NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28.0 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) AGCTGGTGTTCCTTTGCCGCC 0.632 0 119.0 119.0 119.0 15 40758272.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant AL833923 CCDS10058.1, CCDS73705.1 15q14 2005-11-10 ENSG00000140320 ENSG00000140320 22893.0 22893.0 29153.0 protein-coding gene gene with protein product 613880.0 10231032 Standard NM_014952 XM_005254229 Approved KIAA0945 uc001zlu.2 Q8TBE0 OTTHUMG00000129982 ENST00000416165.1:c.2286delC 15.__UNKNOWN__:g.40758272delC ENSP00000396976:p.Phe762fs Q8NDF7|Q9Y2F4 __UNKNOWN__ CCDS10058.1 BAHD1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000252248.1 + ENST00000416165.1 Frame_Shift_Del DEL PCPG-TCGA-RM-A68T-Normal-SM-5EQGX Unknown 402226 bcgsc.ca 37 5 114849176 114849176 + RNA SNP C C G TCGA-RM-A68T-01A-11D-A35D-08 TCGA-RM-A68T-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq d5e91bda-60f7-46f5-b5f6-8ff65daf1559 c15b0ebf-65d4-47ac-991b-556a04917cde g.chr5:114849176C>G CCDC112 (216648 upstream) : FEM1C (7431 downstream) TGGCATGAATCCCATCCAGAC 0.522 0 SO:0001628 intergenic_variant 5.__UNKNOWN__:g.114849176C>G __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-RM-A68T-Normal-SM-5EQGX PAK3 5063 broad.mit.edu 37 X 110435356 110435356 + Splice_Site SNP G G A TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chrX:110435356G>A ENST00000372010.1 + 13.0 1319 c.877G>A c.(877-879)Gca>Aca p.A293T PAK3_ENST00000417227.1_Splice_Site_p.A299T|PAK3_ENST00000425146.1_Splice_Site_p.A278T|PAK3_ENST00000519681.1_Splice_Site_p.A299T|PAK3_ENST00000372007.5_Splice_Site_p.A278T|PAK3_ENST00000262836.4_Splice_Site_p.A293T|PAK3_ENST00000518291.1_Splice_Site_p.A314T|PAK3_ENST00000360648.4_Splice_Site_p.A314T|PAK3_ENST00000446737.1_Splice_Site_p.A278T O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 293.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808) cytoplasm (GO:0005737) ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674) breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41.0 CCTTCACAGGGCATCAGGTAC 0.308 TSP Lung(19;0.15) 0 121.0 112.0 115.0 X 110435356.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AF068864 CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1 Xq22.3 2008-06-17 2008-06-17 ENSG00000077264 ENSG00000077264 5063.0 5063.0 8592.0 protein-coding gene gene with protein product 300142.0 """mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3""" MRX30, MRX47 8826460, 9731525 Standard NM_002578 NM_002578 Approved hPAK3, bPAK uc010npv.1 O75914 OTTHUMG00000022202 ENST00000372010.1:c.876-1G>A X.__UNKNOWN__:g.110435356G>A A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8 __UNKNOWN__ CCDS48153.1 . . . . . . . . . . G 35 5.469038 0.96274 . . ENSG00000077264 ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836 T;T;T;T;T;T;T;T;T 0.66280 -0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2 5.69 5.69 0.88448 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.66218 0.2767 L 0.35288 1.05 0.80722 D 1 B;P;B;P;B 0.51653 0.078;0.947;0.095;0.661;0.095 B;P;B;P;B 0.53360 0.13;0.724;0.206;0.534;0.206 T 0.69800 -0.5047 10 0.87932 D 0 . 18.7601 0.91847 0.0:0.0:1.0:0.0 . 299;314;293;278;293 O75914-4;O75914-3;O75914;O75914-2;B1GX77 .;.;PAK3_HUMAN;.;. T 278;278;293;299;278;314;314;299;293 ENSP00000410853:A278T;ENSP00000401982:A278T;ENSP00000361080:A293T;ENSP00000429113:A299T;ENSP00000361077:A278T;ENSP00000428921:A314T;ENSP00000353864:A314T;ENSP00000389172:A299T;ENSP00000262836:A293T ENSP00000262836:A293T A + 1 0 PAK3 110322012 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 9.455000 0.97625 2.376000 0.81061 0.544000 0.68410 GCA PAK3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000057918.1 Missense_Mutation + ENST00000372010.1 Splice_Site SNP PCPG-TCGA-RM-A68W-Normal-SM-5EQHA C11orf82 220042 broad.mit.edu 37 11 82645030 82645030 + Missense_Mutation SNP G G A TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr11:82645030G>A ENST00000533655.1 + 6.0 2862 c.2650G>A c.(2650-2652)Ggt>Agt p.G884S C11orf82_ENST00000430323.2_Missense_Mutation_p.G884S|C11orf82_ENST00000329143.3_Missense_Mutation_p.G583S|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron NM_145018.3 NP_659455.3 Q8IXT1 DDIAS_HUMAN 884.0 apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286) cytoplasm (GO:0005737)|nucleus (GO:0005634) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33.0 CCAAGGCATAGGTCTAGGGAA 0.398 0 68.0 67.0 67.0 11 82645030.0 2203.0 4300.0 6503.0 SO:0001583 missense ENST00000533655.1:c.2650G>A 11.__UNKNOWN__:g.82645030G>A ENSP00000435421:p.Gly884Ser Q96LK6|Q9H856 __UNKNOWN__ CCDS8263.1 . . . . . . . . . . G 7.199 0.593185 0.13875 . . ENSG00000165490 ENST00000430323;ENST00000533655;ENST00000329143 T;T;T 0.24350 2.18;2.18;1.86 5.83 -0.867 0.10655 . 0.845655 0.10683 N 0.646228 T 0.20820 0.0501 M 0.62723 1.935 0.09310 N 1 B 0.21381 0.055 B 0.15052 0.012 T 0.27739 -1.0065 9 . . . 0.1641 3.9369 0.09310 0.3973:0.0:0.3468:0.2558 . 884 Q8IXT1 NOXIN_HUMAN S 884;884;583 ENSP00000414687:G884S;ENSP00000435421:G884S;ENSP00000329930:G583S . G + 1 0 C11orf82 82322678 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.168000 0.09925 -0.431000 0.07307 -0.136000 0.14681 GGT C11orf82-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000391936.1 + ENST00000533655.1 Missense_Mutation SNP PCPG-TCGA-RM-A68W-Normal-SM-5EQHA DPP3 10072 broad.mit.edu 37 11 66252646 66252646 + Silent SNP G G A rs146040863 byFrequency TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr11:66252646G>A ENST00000360510.2 + 3.0 338 c.273G>A c.(271-273)gcG>gcA p.A91A DPP3_ENST00000453114.1_Silent_p.A91A|DPP3_ENST00000530165.1_Intron|DPP3_ENST00000541961.1_Silent_p.A91A|DPP3_ENST00000532677.1_Silent_p.A110A|DPP3_ENST00000531863.1_Silent_p.A111A Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 91.0 proteolysis (GO:0006508) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886) dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) p.A91A(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23.0 CCCCTCAGGCGTTCCTGGTCT 0.587 G 4.0 0.0018 0.01 2184.0 1.0 , , 0.0004 0.0018 0.9879 LOWCOV,EXOME 0.0004 SNP 1 Substitution - coding silent(1) lung(1) G , 55,4345 54.2+/-90.2 0,55,2145 91.0 76.0 81.0 273,273 -10.0 0.9 11 dbSNP_134 81.0 0,8590 0,0,4295 no coding-synonymous,coding-synonymous DPP3 NM_005700.3,NM_130443.2 , 0,55,6440 AA,AG,GG 0.0,1.25,0.4234 , 91/738,91/738 66252646.0 55,12935 2200.0 4295.0 6495.0 SO:0001819 synonymous_variant AB017970 CCDS8141.1, CCDS58147.1 11q12-q13.1 2008-02-05 2006-01-12 ENSG00000254986 ENSG00000254986 10072.0 10072.0 3.4.14.4 3008.0 protein-coding gene gene with protein product 606818.0 """dipeptidylpeptidase III"", ""dipeptidylpeptidase 3""" 10773679 Standard NM_005700 Approved uc001oif.2 Q9NY33 OTTHUMG00000167143 ENST00000360510.2:c.273G>A 11.__UNKNOWN__:g.66252646G>A B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6 __UNKNOWN__ CCDS8141.1 DPP3-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393424.2 + ENST00000360510.2 Silent SNP PCPG-TCGA-RM-A68W-Normal-SM-5EQHA MUC16 94025 broad.mit.edu 37 19 9065747 9065747 + Silent SNP A A G TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr19:9065747A>G ENST00000397910.4 - 3.0 21902 c.21699T>C c.(21697-21699)acT>acC p.T7233T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7235.0 Ser-rich.|Thr-rich. cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982) 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) 590.0 GAATTCTGCTAGTCTCCAAGA 0.478 0 197.0 185.0 189.0 19 9065747.0 1979.0 4164.0 6143.0 SO:0001819 synonymous_variant AF414442 CCDS54212.1 19p13.2 2008-02-05 2006-03-14 ENSG00000181143 94025.0 94025.0 """Mucins""" 15582.0 protein-coding gene gene with protein product 606154.0 11369781 Standard NM_024690 XM_006722941 Approved CA125, FLJ14303 uc002mkp.3 Q8WXI7 ENST00000397910.4:c.21699T>C 19.__UNKNOWN__:g.9065747A>G Q6ZQW5|Q96RK2 __UNKNOWN__ CCDS54212.1 MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402806.1 - ENST00000397910.4 Silent SNP PCPG-TCGA-RM-A68W-Normal-SM-5EQHA AMOT 154796 broad.mit.edu 37 X 112021835 112021835 + Missense_Mutation SNP C C A TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chrX:112021835C>A ENST00000524145.1 - 12.0 3289 c.3215G>T c.(3214-3216)gGa>gTa p.G1072V AMOT_ENST00000371962.1_Missense_Mutation_p.G840V|AMOT_ENST00000304758.1_Missense_Mutation_p.G663V|AMOT_ENST00000371959.3_Missense_Mutation_p.G1072V Q4VCS5 AMOT_HUMAN angiomotin 1072.0 actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570) actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923) angiostatin binding (GO:0043532)|receptor activity (GO:0004872) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43.0 AGGCTCTTGTCCCAGGATCTG 0.408 0 237.0 220.0 226.0 X 112021835.0 2203.0 4300.0 6503.0 SO:0001583 missense AB028994 CCDS14563.1, CCDS48154.1 Xq23 2006-02-08 ENSG00000126016 ENSG00000126016 154796.0 154796.0 17810.0 protein-coding gene gene with protein product 300410.0 11257124, 16043488, 12406577 Standard NM_133265 NM_001113490 Approved KIAA1071 uc004epr.3 Q4VCS5 OTTHUMG00000022216 ENST00000524145.1:c.3215G>T X.__UNKNOWN__:g.112021835C>A ENSP00000429013:p.Gly1072Val Q504X5|Q9HD27|Q9UPT1 __UNKNOWN__ CCDS48154.1 . . . . . . . . . . C 14.04 2.418079 0.42918 . . ENSG00000126016 ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145 T;T;T;T 0.28666 1.6;1.67;1.91;1.67 5.87 5.0 0.66597 . 0.589593 0.16920 N 0.194134 T 0.22475 0.0542 N 0.19112 0.55 0.51482 D 0.999921 P 0.46277 0.875 B 0.39706 0.307 T 0.01889 -1.1253 10 0.40728 T 0.16 -1.6692 14.9932 0.71406 0.0:0.8609:0.1391:0.0 . 1072 Q4VCS5 AMOT_HUMAN V 663;1072;840;1072 ENSP00000305557:G663V;ENSP00000361027:G1072V;ENSP00000361030:G840V;ENSP00000429013:G1072V ENSP00000305557:G663V G - 2 0 AMOT 111908491 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 3.822000 0.55708 1.211000 0.43351 0.600000 0.82982 GGA AMOT-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000378570.1 - ENST00000524145.1 Missense_Mutation SNP PCPG-TCGA-RM-A68W-Normal-SM-5EQHA ZDBF2 57683 broad.mit.edu 37 2 207172767 207172767 + Missense_Mutation SNP T T A TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr2:207172767T>A ENST00000374423.3 + 5.0 3901 c.3515T>A c.(3514-3516)gTc>gAc p.V1172D NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1172.0 nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95.0 CAGTCAATAGTCAATCGACCT 0.368 0 107.0 103.0 104.0 2 207172767.0 1884.0 4101.0 5985.0 SO:0001583 missense AB046791 CCDS46501.1, CCDS74637.1 2q33.3 2013-01-10 ENSG00000204186 ENSG00000204186 57683.0 57683.0 """Zinc fingers, DBF-type""" 29313.0 protein-coding gene gene with protein product 10997877 Standard NM_020923 XM_005246711 Approved FLJ45338, KIAA1571 uc002vbp.2 Q9HCK1 OTTHUMG00000154648 ENST00000374423.3:c.3515T>A 2.__UNKNOWN__:g.207172767T>A ENSP00000363545:p.Val1172Asp Q6ZNP7|Q6ZSN8 __UNKNOWN__ CCDS46501.1 . . . . . . . . . . T 13.31 2.197858 0.38806 . . ENSG00000204186 ENST00000374423 T 0.61510 0.1 4.1 1.76 0.24704 . . . . . T 0.60366 0.2263 L 0.50333 1.59 0.09310 N 0.999999 D 0.61697 0.99 P 0.56398 0.797 T 0.49643 -0.8918 9 0.87932 D 0 . 5.577 0.17228 0.0:0.2199:0.0:0.7801 . 1172 Q9HCK1 ZDBF2_HUMAN D 1172 ENSP00000363545:V1172D ENSP00000363545:V1172D V + 2 0 ZDBF2 206881012 0.018000 0.18449 0.000000 0.03702 0.001000 0.01503 0.596000 0.24044 0.392000 0.25172 -0.256000 0.11100 GTC ZDBF2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000336458.1 + ENST00000374423.3 Missense_Mutation SNP PCPG-TCGA-RM-A68W-Normal-SM-5EQHA SCO2 9997 broad.mit.edu 37 22 50962137 50962137 + Missense_Mutation SNP C C T TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr22:50962137C>T ENST00000543927.1 - 2.0 910 c.704G>A c.(703-705)gGc>gAc p.G235D SCO2_ENST00000252785.3_Missense_Mutation_p.G235D|SCO2_ENST00000535425.1_Missense_Mutation_p.G235D|SCO2_ENST00000395693.3_Missense_Mutation_p.G235D NM_001169109.1 NP_001162580.1 O43819 SCO2_HUMAN SCO2 cytochrome c oxidase assembly protein 235.0 Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}. cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823) mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634) copper ion binding (GO:0005507) endometrium(1)|lung(1) 2.0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CGTGAAGAGGCCGTCAGGGTT 0.582 0 167.0 148.0 154.0 22 50962137.0 2203.0 4300.0 6503.0 SO:0001583 missense AL021683 CCDS14095.1 22q13.33 2014-01-30 2012-10-15 ENSG00000130489 ENSG00000130489 9997.0 9997.0 """Mitochondrial respiratory chain complex assembly factors""" 10604.0 protein-coding gene gene with protein product 604272.0 """SCO (cytochrome oxidase deficient, yeast) homolog 2"", ""SCO cytochrome oxidase deficient homolog 2 (yeast)"", ""myopia 6""" MYP6 10218584, 16091356, 23643385 Standard NM_005138 NM_005138 Approved SCO1L uc003bma.3 O43819 OTTHUMG00000150251 ENST00000543927.1:c.704G>A 22.__UNKNOWN__:g.50962137C>T ENSP00000444433:p.Gly235Asp Q3T1B5|Q9UK87 __UNKNOWN__ CCDS14095.1 . . . . . . . . . . C 18.44 3.625146 0.66901 . . ENSG00000130489 ENST00000395693;ENST00000543927;ENST00000535425;ENST00000252785 D;D;D;D 0.98937 -5.25;-5.25;-5.25;-5.25 5.07 5.07 0.68467 Thioredoxin-like fold (3); 0.000000 0.64402 D 0.000003 D 0.99363 0.9776 M 0.93375 3.41 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.98748 1.0719 10 0.87932 D 0 -29.2006 17.4056 0.87472 0.0:1.0:0.0:0.0 . 235 O43819 SCO2_HUMAN D 235 ENSP00000379046:G235D;ENSP00000444433:G235D;ENSP00000444242:G235D;ENSP00000252785:G235D ENSP00000252785:G235D G - 2 0 SCO2 49309003 1.000000 0.71417 0.804000 0.32291 0.120000 0.20174 6.715000 0.74697 2.544000 0.85801 0.643000 0.83706 GGC SCO2-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317091.1 - ENST00000543927.1 Missense_Mutation SNP PCPG-TCGA-RM-A68W-Normal-SM-5EQHA IGSF1 3547 broad.mit.edu 37 X 130408639 130408639 + Missense_Mutation SNP G G A TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chrX:130408639G>A ENST00000370904.1 - 24.0 4568 c.3658C>T c.(3658-3660)Cgc>Tgc p.R1220C IGSF1_ENST00000370903.3_Missense_Mutation_p.R1234C|IGSF1_ENST00000361420.3_Missense_Mutation_p.R1229C|IGSF1_ENST00000370910.1_Missense_Mutation_p.R1220C Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1229.0 Ig-like C2-type 12. regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020) coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872) 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) 78.0 GCCTGGAGGCGGTAGCTGCAG 0.512 0 188.0 173.0 178.0 X 130408639.0 2203.0 4300.0 6503.0 SO:0001583 missense AF034198 CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1 Xq25 2013-01-11 ENSG00000147255 ENSG00000147255 3547.0 3547.0 """Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 5948.0 protein-coding gene gene with protein product 300137.0 9521868, 9729118 Standard NM_001555 Approved KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2 uc004ewe.4 Q8N6C5 OTTHUMG00000022406 ENST00000370904.1:c.3658C>T X.__UNKNOWN__:g.130408639G>A ENSP00000359941:p.Arg1220Cys B5MEG2|H9KV64|O15070|Q9NTC8 __UNKNOWN__ CCDS55490.1 . . . . . . . . . . G 15.87 2.961886 0.53400 . . ENSG00000147255 ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903 T;T;T;T 0.13778 2.56;2.56;2.56;2.56 5.42 4.54 0.55810 Immunoglobulin-like fold (1); 0.532850 0.17539 N 0.170616 T 0.30665 0.0772 M 0.62723 1.935 0.42167 D 0.991629 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.85130 0.995;0.995;0.997 T 0.01198 -1.1421 10 0.48119 T 0.1 . 8.2694 0.31836 0.1081:0.0:0.8919:0.0 . 1220;673;1229 Q8N6C5-2;C9JP68;Q8N6C5 .;.;IGSF1_HUMAN C 1220;1229;1220;1234 ENSP00000359947:R1220C;ENSP00000355010:R1229C;ENSP00000359941:R1220C;ENSP00000359940:R1234C ENSP00000355010:R1229C R - 1 0 IGSF1 130236320 0.940000 0.31905 1.000000 0.80357 0.997000 0.91878 2.545000 0.45769 2.410000 0.81850 0.594000 0.82650 CGC IGSF1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000058286.1 - ENST00000370904.1 Missense_Mutation SNP PCPG-TCGA-RM-A68W-Normal-SM-5EQHA FAM127C 441518 broad.mit.edu 37 X 134156379 134156379 + Silent SNP G G T TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chrX:134156379G>T ENST00000391440.1 - 1.0 180 c.111C>A c.(109-111)acC>acA p.T37T NM_001078173.1 NP_001071641.1 Q17RB0 F127C_HUMAN family with sequence similarity 127, member C 37.0 breast(1)|endometrium(2)|large_intestine(1)|lung(2) 6.0 Acute lymphoblastic leukemia(192;0.000127) GGAGCCGGTCGGTATCGCCAT 0.632 0 84.0 92.0 89.0 X 134156379.0 2112.0 4203.0 6315.0 SO:0001819 synonymous_variant BC048268 CCDS43996.1 Xq26.3 2014-05-16 ENSG00000212747 ENSG00000212747 441518.0 441518.0 33156.0 protein-coding gene gene with protein product 9403077, 15716091 Standard NM_001078173 NM_001078173 Approved MAR8B, CXX1c uc004eyc.1 Q17RB0 OTTHUMG00000022464 ENST00000391440.1:c.111C>A X.__UNKNOWN__:g.134156379G>T __UNKNOWN__ CCDS43996.1 FAM127C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058389.2 - ENST00000391440.1 Silent SNP PCPG-TCGA-RM-A68W-Normal-SM-5EQHA SLC35B1 10237 broad.mit.edu 37 17 47780342 47780342 + Missense_Mutation SNP C C G TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr17:47780342C>G ENST00000240333.6 - 8.0 915 c.794G>C c.(793-795)gGt>gCt p.G265A SLC35B1_ENST00000415270.2_Missense_Mutation_p.G302A P78383 S35B1_HUMAN solute carrier family 35, member B1 265.0 transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231) UDP-galactose transmembrane transporter activity (GO:0005459) endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1) 7.0 GGTCAGGGGACCAAAATACAC 0.473 0 135.0 134.0 134.0 17 47780342.0 2203.0 4300.0 6503.0 SO:0001583 missense D16978 CCDS11552.1, CCDS11552.2 17q21.32 2013-05-22 ENSG00000121073 ENSG00000121073 10237.0 10237.0 """Solute carriers""" 20798.0 protein-coding gene gene with protein product 610790.0 9010752 Standard NM_005827 NM_005827 Approved UGTREL1 uc002iph.1 P78383 OTTHUMG00000161638 ENST00000240333.6:c.794G>C 17.__UNKNOWN__:g.47780342C>G ENSP00000240333:p.Gly265Ala B4DEC4|J3KQV4|Q96EW7 __UNKNOWN__ CCDS11552.1 . . . . . . . . . . C 29.3 4.996303 0.93167 . . ENSG00000121073 ENST00000240333;ENST00000415270;ENST00000504260;ENST00000502406;ENST00000503334 T;T;T 0.70631 -0.5;-0.5;1.3 5.16 5.16 0.70880 . 0.000000 0.85682 D 0.000000 D 0.87985 0.6316 M 0.92691 3.335 0.80722 D 1 D;D 0.65815 0.995;0.995 D;D 0.73380 0.98;0.967 D 0.90491 0.4467 10 0.72032 D 0.01 -2.4574 18.4394 0.90660 0.0:1.0:0.0:0.0 . 198;265 D3DTX1;P78383 .;S35B1_HUMAN A 265;302;141;141;198 ENSP00000240333:G265A;ENSP00000409548:G302A;ENSP00000423323:G198A ENSP00000240333:G265A G - 2 0 SLC35B1 45135341 1.000000 0.71417 0.938000 0.37757 0.983000 0.72400 7.435000 0.80391 2.664000 0.90586 0.655000 0.94253 GGT SLC35B1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000365564.2 - ENST00000240333.6 Missense_Mutation SNP PCPG-TCGA-RM-A68W-Normal-SM-5EQHA NFE2 4778 broad.mit.edu 37 12 54686887 54686887 + Silent SNP C C A TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr12:54686887C>A ENST00000540264.2 - 2.0 902 c.393G>T c.(391-393)ctG>ctT p.L131L RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Silent_p.L131L|NFE2_ENST00000312156.4_Silent_p.L131L|NFE2_ENST00000553070.1_Silent_p.L131L Q16621 NFE2_HUMAN nuclear factor, erythroid 2 131.0 Transactivation domain. blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699) breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16.0 GCCCTGCTGGCAGCCCAATGT 0.577 0 102.0 107.0 106.0 12 54686887.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC005044 CCDS8876.1 12q13 2013-08-23 2013-08-23 ENSG00000123405 4778.0 4778.0 """basic leucine zipper proteins""" 7780.0 protein-coding gene gene with protein product 601490.0 """nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa""" 8355703 Standard NM_006163 NM_001136023 Approved NF-E2 uc001sfr.5 Q16621 ENST00000540264.2:c.393G>T 12.__UNKNOWN__:g.54686887C>A Q07720|Q6ICV9 __UNKNOWN__ CCDS8876.1 NFE2-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405747.1 - ENST00000540264.2 Silent SNP PCPG-TCGA-RM-A68W-Normal-SM-5EQHA DCHS1 8642 broad.mit.edu 37 11 6645532 6645532 + Missense_Mutation SNP C C T TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr11:6645532C>T ENST00000299441.3 - 21.0 7786 c.7375G>A c.(7375-7377)Gct>Act p.A2459T NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 2459.0 Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}. branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342) apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) 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) 103.0 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGGCCTGGAGCCCCGTGGTCT 0.617 0 24.0 26.0 25.0 11 6645532.0 2200.0 4295.0 6495.0 SO:0001583 missense AB000895 CCDS7771.1 11p15.4 2013-10-04 2013-10-04 2004-09-03 ENSG00000166341 ENSG00000166341 8642.0 8642.0 """Cadherins / Cadherin-related""" 13681.0 protein-coding gene gene with protein product """cadherin-related family member 6""" 603057.0 """protocadherin 16"", ""dachsous 1 (Drosophila)""" CDH25, PCDH16 9199196 Standard NM_003737 XM_005253207 Approved FIB1, KIAA1773, FLJ11790, CDHR6 uc001mem.1 Q96JQ0 OTTHUMG00000133398 ENST00000299441.3:c.7375G>A 11.__UNKNOWN__:g.6645532C>T ENSP00000299441:p.Ala2459Thr O15098 __UNKNOWN__ CCDS7771.1 . . . . . . . . . . C 4.207 0.037114 0.08148 . . ENSG00000166341 ENST00000299441 T 0.50813 0.73 4.98 -2.33 0.06724 Cadherin (4);Cadherin-like (1); 1.151050 0.06617 N 0.756699 T 0.18718 0.0449 N 0.02403 -0.565 0.09310 N 1 B 0.02656 0.0 B 0.04013 0.001 T 0.21211 -1.0252 10 0.12430 T 0.62 . 6.9193 0.24378 0.1459:0.4362:0.0:0.4178 . 2459 Q96JQ0 PCD16_HUMAN T 2459 ENSP00000299441:A2459T ENSP00000299441:A2459T A - 1 0 DCHS1 6602108 0.000000 0.05858 0.046000 0.18839 0.964000 0.63967 -0.125000 0.10579 -0.623000 0.05618 -1.598000 0.00824 GCT DCHS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257258.1 - ENST00000299441.3 Missense_Mutation SNP PCPG-TCGA-RM-A68W-Normal-SM-5EQHA SLC35B2 347734 broad.mit.edu 37 6 44224447 44224447 + Frame_Shift_Del DEL G G - TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr6:44224447delG ENST00000393810.1 - 2.0 323 c.180delC c.(178-180)ttcfs p.F60fs SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_Frame_Shift_Del_p.S19fs|SLC35B2_ENST00000393812.3_Frame_Shift_Del_p.F60fs Q8TB61 S35B2_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 60.0 3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805) Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020) 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871) breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 15.0 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) TCTTCCGCCTGAAGTACTGCA 0.547 0 121.0 129.0 127.0 6 44224447.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant AK075456 CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1 6p12.1-p11.21 2013-07-17 2013-07-17 ENSG00000157593 ENSG00000157593 347734.0 347734.0 """Solute carriers""" 16872.0 protein-coding gene gene with protein product 610788.0 """solute carrier family 35, member B2""" Standard NM_001286517 Approved UGTrel4 uc003oxd.3 Q8TB61 OTTHUMG00000014760 ENST00000393810.1:c.180delC 6.__UNKNOWN__:g.44224447delG ENSP00000377399:p.Phe60fs B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6 __UNKNOWN__ SLC35B2-003 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000040725.2 - ENST00000393810.1 Frame_Shift_Del DEL PCPG-TCGA-RM-A68W-Normal-SM-5EQHA MLPH 79083 bcgsc.ca 37 2 238436130 238436130 + Missense_Mutation SNP C C T TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr2:238436130C>T ENST00000410032.1 + 7.0 1068 MLPH_ENST00000409373.1_Missense_Mutation_p.R291W|MLPH_ENST00000264605.3_Missense_Mutation_p.R331W|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.R331W|MLPH_ENST00000338530.4_Missense_Mutation_p.R331W Q9BV36 MELPH_HUMAN melanophilin melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605) cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725) metal ion binding (GO:0046872) p.R331W(1) NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 25.0 Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203) Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316) CCATTCCAAGCGGAGAGGCCG 0.557 1 Substitution - Missense(1) lung(1) 75.0 84.0 81.0 2 238436130.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AY358857 CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1 2q37.2 2014-09-17 ENSG00000115648 ENSG00000115648 79083.0 79083.0 29643.0 protein-coding gene gene with protein product 606526 11980908, 11504925 Standard NM_024101 NM_024101 Approved l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3 uc002vwt.3 Q9BV36 OTTHUMG00000133298 ENST00000410032.1:c.675+7458C>T 2.__UNKNOWN__:g.238436130C>T B3KSS2|B4DKW7|G5E9G5|Q9HA71 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 10.47|10.47 1.359166|1.359166 0.24598|0.24598 .|. .|. ENSG00000115648|ENSG00000115648 ENST00000415753|ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373 .|T;T;T;T .|0.39997 .|1.75;1.72;1.59;1.05 4.71|4.71 1.76|1.76 0.24704|0.24704 .|. .|1.388040 .|0.04867 .|N .|0.445293 T|T 0.33294|0.33294 0.0858|0.0858 L|L 0.40543|0.40543 1.245|1.245 0.09310|0.09310 N|N 0.999999|0.999999 .|B;B;B;B;B;B .|0.31351 .|0.217;0.167;0.214;0.054;0.32;0.106 .|B;B;B;B;B;B .|0.24155 .|0.012;0.018;0.023;0.007;0.051;0.023 T|T 0.26360|0.26360 -1.0105|-1.0105 5|10 .|0.62326 .|D .|0.03 -9.1624|-9.1624 5.8613|5.8613 0.18749|0.18749 0.3597:0.5466:0.0:0.0937|0.3597:0.5466:0.0:0.0937 .|. .|331;215;331;291;331;331 .|B4DKW7;Q6UWC1;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36 .|.;.;.;.;.;MELPH_HUMAN V|W 18|331;331;331;291 .|ENSP00000264605:R331W;ENSP00000414849:R331W;ENSP00000341845:R331W;ENSP00000386780:R291W .|ENSP00000264605:R331W A|R +|+ 2|1 0|2 MLPH|MLPH 238100869|238100869 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.003000|0.003000 0.03518|0.03518 0.003000|0.003000 0.13083|0.13083 0.036000|0.036000 0.15547|0.15547 -0.397000|-0.397000 0.06425|0.06425 GCG|CGG MLPH-002 NOVEL basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000328854.1 + ENST00000410032.1 Intron SNP PCPG-TCGA-RM-A68W-Normal-SM-5EQHA Unknown 0 bcgsc.ca 37 X 85340722 85340722 + RNA SNP C C T TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chrX:85340722C>T CHM (38156 upstream) : DACH2 (62739 downstream) GGCTTGGTCTCCTTTTTGGGA 0.507 0 SO:0001628 intergenic_variant X.__UNKNOWN__:g.85340722C>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-RM-A68W-Normal-SM-5EQHA FHL3 2275 ucsc.edu 37 1 38464768 38464768 + Missense_Mutation SNP C C T TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr1:38464768C>T ENST00000373016.3 - 3.0 377 c.209G>A c.(208-210)cGc>cAc p.R70H FHL3_ENST00000485803.1_5'UTR NM_001243878.1|NM_004468.4 NP_001230807.1|NP_004459.2 Q13643 FHL3_HUMAN four and a half LIM domains 3 70.0 LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}. actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517) focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018) zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5.0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GCGCTGGCAGCGGCAGCAGCG 0.612 0 60.0 58.0 58.0 1 38464768.0 2203.0 4300.0 6503.0 SO:0001583 missense BC011697 CCDS30678.1 1p34.3 2008-02-05 ENSG00000183386 ENSG00000183386 2275.0 2275.0 3704.0 protein-coding gene gene with protein product 602790 8753811, 10226657 Standard NM_004468 NM_004468 Approved SLIM2 uc001cck.3 Q13643 OTTHUMG00000004434 ENST00000373016.3:c.209G>A 1.__UNKNOWN__:g.38464768C>T ENSP00000362107:p.Arg70His D3DPT6|Q6I9T0|Q9BVA2 __UNKNOWN__ CCDS30678.1 . . . . . . . . . . C 18.72 3.683936 0.68157 . . ENSG00000183386 ENST00000373016 D 0.87179 -2.22 5.94 5.02 0.67125 Zinc finger, LIM-type (5); 0.000000 0.85682 D 0.000000 D 0.84515 0.5489 L 0.52266 1.64 0.58432 D 0.999999 P;P 0.39920 0.604;0.695 B;B 0.39419 0.299;0.232 D 0.84500 0.0616 10 0.42905 T 0.14 . 15.5461 0.76101 0.0:0.9329:0.0:0.0671 . 70;70 Q9P100;Q13643 .;FHL3_HUMAN H 70 ENSP00000362107:R70H ENSP00000362107:R70H R - 2 0 FHL3 38237355 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 2.667000 0.46808 2.826000 0.97356 0.561000 0.74099 CGC FHL3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000012958.1 - ENST00000373016.3 Missense_Mutation SNP PCPG-TCGA-RM-A68W-Normal-SM-5EQHA HELT 391723 ucsc.edu 37 4 185940139 185940139 + Silent SNP C C T rs113434704 byFrequency TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr4:185940139C>T ENST00000515777.1 + 1.0 115 HELT_ENST00000505610.1_Intron|HELT_ENST00000338875.4_Silent_p.C19C A6NFD8 HELT_HUMAN helt bHLH transcription factor central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 14.0 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) ATGGCACTTGCGCCCTGGTGG 0.637 0 87.0 71.0 77.0 4 185940139.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant BC144567 CCDS75214.1, CCDS75215.1 4q35.1 2014-07-17 2011-09-12 ENSG00000187821 ENSG00000187821 391723.0 391723.0 """Basic helix-loop-helix proteins""" 33783.0 protein-coding gene gene with protein product """megane bHLH factor"", ""HES-like""" """Hey-like transcription factor (zebrafish)"", ""HES/HEY-like transcription factor""" 14764602, 17611227 Standard NM_001300781 XM_005262989 Approved HESL, HCM1228, Mgn, bHLHb44, MEGANE uc011ckq.2 A6NFD8 OTTHUMG00000160484 ENST00000515777.1:c.27+30C>T 4.__UNKNOWN__:g.185940139C>T B2RTS5|B7ZMI7|B7ZMI8 __UNKNOWN__ HELT-002 NOVEL basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000360792.1 + ENST00000515777.1 Intron SNP PCPG-TCGA-RM-A68W-Normal-SM-5EQHA PLCB3 5331 hgsc.bcm.edu 37 11 64030253 64030253 + Nonsense_Mutation SNP G G A TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr11:64030253G>A ENST00000540288.1 + 19.0 2431 c.2328G>A c.(2326-2328)tgG>tgA p.W776* PLCB3_ENST00000325234.5_Nonsense_Mutation_p.W709*|PLCB3_ENST00000279230.6_Nonsense_Mutation_p.W776* NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 776.0 C2. {ECO:0000255|PROSITE- ProRule:PRU00041}. inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234) calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33.0 ACCCCGTGTGGGACGAAGAGC 0.647 0 110.0 103.0 106.0 11 64030253.0 2201.0 4297.0 6498.0 SO:0001587 stop_gained Z26649 CCDS8064.1, CCDS53654.1 11q13 2008-03-18 ENSG00000149782 ENSG00000149782 5331.0 5331.0 3.1.4.11 9056.0 protein-coding gene gene with protein product 600230 7849701 Standard NM_000932 Approved uc009ypg.2 Q01970 OTTHUMG00000167816 ENST00000540288.1:c.2328G>A 11.__UNKNOWN__:g.64030253G>A ENSP00000443631:p.Trp776* A5PKZ6|G5E960|Q8N1A4 __UNKNOWN__ CCDS8064.1 . . . . . . . . . . G 37 6.430924 0.97559 . . ENSG00000149782 ENST00000279230;ENST00000540288;ENST00000325234 . . . 5.21 5.21 0.72293 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 17.5322 0.87818 0.0:0.0:1.0:0.0 . . . . X 776;776;709 . ENSP00000279230:W776X W + 3 0 PLCB3 63786829 1.000000 0.71417 1.000000 0.80357 0.199000 0.23934 9.808000 0.99193 2.437000 0.82529 0.591000 0.81541 TGG PLCB3-002 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000396405.1 + ENST00000540288.1 Nonsense_Mutation SNP PCPG-TCGA-RM-A68W-Normal-SM-5EQHA ATP1A4 480 broad.mit.edu 37 1 160141222 160141222 + Missense_Mutation SNP G G A TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr1:160141222G>A ENST00000368081.4 + 11.0 2144 c.1673G>A c.(1672-1674)cGt>cAt p.R558H ATP1A4_ENST00000418334.1_3'UTR NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 558.0 ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391) p.R558H(1) 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) 75.0 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTGGGGGAACGTGTGCTAGGT 0.443 1 Substitution - Missense(1) prostate(1) 70.0 70.0 70.0 1 160141222.0 2203.0 4300.0 6503.0 SO:0001583 missense BC028297 CCDS1197.1, CCDS44255.1 1q23.2 2012-10-22 2002-02-25 ENSG00000132681 ENSG00000132681 480.0 480.0 """ATPases / P-type""" 14073.0 protein-coding gene gene with protein product """sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4""" 607321.0 """ATPase, Na+/K+ transporting, alpha polypeptide-like 2""" ATP1AL2 1981991, 3035563 Standard NM_144699 NM_144699 Approved uc001fve.4 Q13733 OTTHUMG00000031609 ENST00000368081.4:c.1673G>A 1.__UNKNOWN__:g.160141222G>A ENSP00000357060:p.Arg558His Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13 __UNKNOWN__ CCDS1197.1 . . . . . . . . . . G 19.20 3.782396 0.70222 . . ENSG00000132681 ENST00000368081 D 0.92545 -3.06 4.43 4.43 0.53597 ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1); 0.000000 0.85682 D 0.000000 D 0.96849 0.8971 H 0.95004 3.61 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.97585 1.0113 10 0.87932 D 0 . 14.9387 0.70978 0.0:0.0:1.0:0.0 . 558 Q13733 AT1A4_HUMAN H 558 ENSP00000357060:R558H ENSP00000357060:R558H R + 2 0 ATP1A4 158407846 1.000000 0.71417 0.706000 0.30403 0.410000 0.31052 9.633000 0.98432 2.458000 0.83093 0.655000 0.94253 CGT ATP1A4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077415.1 + ENST00000368081.4 Missense_Mutation SNP PCPG-TCGA-RT-A6Y9-Normal-SM-5EQF8 HDLBP 3069 broad.mit.edu 37 2 242187753 242187753 + Missense_Mutation SNP C C G TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr2:242187753C>G ENST00000391975.1 - 13.0 1750 c.1523G>C c.(1522-1524)cGt>cCt p.R508P HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000310931.4_Missense_Mutation_p.R508P|HDLBP_ENST00000391976.2_Missense_Mutation_p.R508P|HDLBP_ENST00000427183.2_Missense_Mutation_p.R475P NM_203346.3 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 508.0 KH 5. {ECO:0000255|PROSITE- ProRule:PRU00117}. cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869) cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886) lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822) p.R508H(1) breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44.0 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) ATCCTTGGTACGCTCATTTTC 0.458 1 Substitution - Missense(1) endometrium(1) 121.0 116.0 118.0 2 242187753.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS2547.1, CCDS58760.1 2q37.3 2008-07-18 2008-07-18 ENSG00000115677 ENSG00000115677 3069.0 3069.0 4857.0 protein-coding gene gene with protein product 142695.0 """vigilin""" VGL 1318310, 8390966 Standard NM_203346 NM_005336 Approved HBP uc002waz.3 Q00341 OTTHUMG00000133391 ENST00000391975.1:c.1523G>C 2.__UNKNOWN__:g.242187753C>G ENSP00000375836:p.Arg508Pro B4DTQ2|E7EM71|Q53QU2|Q9UCY3 __UNKNOWN__ CCDS2547.1 . . . . . . . . . . C 23.6 4.439095 0.83885 . . ENSG00000115677 ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931 T;T;T;T;T 0.43294 0.95;0.95;0.95;0.95;1.93 6.17 3.46 0.39613 K Homology (1);K Homology, type 1 (1); 0.044585 0.85682 D 0.000000 T 0.61048 0.2316 M 0.76002 2.32 0.80722 D 1 D;D 0.76494 0.999;0.999 D;D 0.70935 0.971;0.935 T 0.60974 -0.7156 10 0.52906 T 0.07 -7.9844 11.7143 0.51643 0.0:0.8105:0.0:0.1895 . 475;508 E7EM71;Q00341 .;VIGLN_HUMAN P 508;508;508;475;17 ENSP00000375836:R508P;ENSP00000375837:R508P;ENSP00000312042:R508P;ENSP00000399139:R475P;ENSP00000388876:R17P ENSP00000312042:R508P R - 2 0 HDLBP 241836426 1.000000 0.71417 0.492000 0.27490 0.990000 0.78478 7.755000 0.85180 0.502000 0.28037 0.655000 0.94253 CGT HDLBP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257245.5 - ENST00000391975.1 Missense_Mutation SNP PCPG-TCGA-RT-A6Y9-Normal-SM-5EQF8 DNM2 1785 broad.mit.edu 37 19 10939756 10939756 + Silent SNP C C T TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr19:10939756C>T ENST00000359692.6 + 18.0 2241 c.2091C>T c.(2089-2091)tcC>tcT p.S697S DNM2_ENST00000585892.1_Silent_p.S701S|DNM2_ENST00000355667.6_Silent_p.S701S|DNM2_ENST00000408974.4_Silent_p.S697S|DNM2_ENST00000314646.5_Silent_p.S701S|DNM2_ENST00000389253.4_Silent_p.S701S NM_004945.3 NP_004936.2 P50570 DYN2_HUMAN dynamin 2 701.0 GED. {ECO:0000255|PROSITE- ProRule:PRU00720}. antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017) 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) 42.0 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) ACCTATACTCCTCGGCAGACC 0.627 """F, N, Splice, Mis, O""" ETP ALL Rec yes 19 19p13.2 1785.0 dynamin 2 L 0 39.0 31.0 33.0 19 10939756.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1 19p 2014-09-17 1785.0 1785.0 """Pleckstrin homology (PH) domain containing""" 2974.0 protein-coding gene gene with protein product """dynamin II"", ""cytoskeletal protein""" 602378.0 7590285, 9143510 Standard NM_004945 NM_001190716 Approved DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB uc002mps.2 P50570 ENST00000359692.6:c.2091C>T 19.__UNKNOWN__:g.10939756C>T A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4 __UNKNOWN__ CCDS32907.1 DNM2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000452591.1 + ENST00000359692.6 Silent SNP PCPG-TCGA-RT-A6Y9-Normal-SM-5EQF8 SLC20A1 6574 broad.mit.edu 37 2 113405018 113405018 + Missense_Mutation SNP A A G TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr2:113405018A>G ENST00000272542.3 + 3.0 991 c.452A>G c.(451-453)aAg>aGg p.K151R NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 151.0 ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28.0 GAGGGTGTCAAGTGGTCTGAA 0.433 A 1.0 0.0005 0.002 2184.0 1.0 , , 0.0003 0.0004 0.95 LOWCOV,EXOME 0.0006 SNP 0 189.0 195.0 193.0 2 113405018.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS2099.1 2q13 2013-05-22 ENSG00000144136 ENSG00000144136 6574.0 6574.0 """Solute carriers""" 10946.0 protein-coding gene gene with protein product """gibbon ape leukemia virus receptor 1""" 137570.0 GLVR1 8041748 Standard NM_005415 NM_005415 Approved PiT-1, Glvr-1 uc002tib.3 Q8WUM9 OTTHUMG00000131317 ENST00000272542.3:c.452A>G 2.__UNKNOWN__:g.113405018A>G ENSP00000272542:p.Lys151Arg Q08344|Q6DHX8|Q9UQ82 __UNKNOWN__ CCDS2099.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 A 15.30 2.791212 0.50102 . . ENSG00000144136 ENST00000272542 D 0.90620 -2.7 5.49 3.12 0.35913 . 0.137480 0.64402 N 0.000004 D 0.86497 0.5947 L 0.49350 1.555 0.48901 D 0.999723 B 0.16166 0.016 B 0.23018 0.043 T 0.80398 -0.1399 10 0.72032 D 0.01 -23.7647 8.2015 0.31428 0.8346:0.0:0.1654:0.0 . 151 Q8WUM9 S20A1_HUMAN R 151 ENSP00000272542:K151R ENSP00000272542:K151R K + 2 0 SLC20A1 113121489 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 2.227000 0.42972 0.391000 0.25143 0.533000 0.62120 AAG SLC20A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254086.2 + ENST00000272542.3 Missense_Mutation SNP PCPG-TCGA-RT-A6Y9-Normal-SM-5EQF8 AVL9 23080 broad.mit.edu 37 7 32582854 32582854 + Silent SNP C C T TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr7:32582854C>T ENST00000318709.4 + 2.0 416 c.195C>T c.(193-195)ggC>ggT p.G65G AVL9_ENST00000404479.1_Silent_p.G65G|AVL9_ENST00000409301.1_Silent_p.G65G NM_015060.1 NP_055875.1 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 65.0 cell migration (GO:0016477) integral component of membrane (GO:0016021)|recycling endosome (GO:0055037) p.G65G(2) endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18.0 TACCAGATGGCGCACACAACT 0.423 2 Substitution - coding silent(2) endometrium(2) C 0,4406 0,0,2203 174.0 143.0 154.0 195 -5.2 1.0 7 154.0 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous AVL9 NM_015060.1 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 65/649 32582854.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D87682 CCDS34613.1 7p14.3 2013-05-01 2008-10-03 2008-10-03 ENSG00000105778 ENSG00000105778 23080.0 23080.0 28994.0 protein-coding gene gene with protein product 612927.0 """KIAA0241""" KIAA0241 17229886, 22595670 Standard NM_015060 XM_005249668 Approved uc003tcv.1 Q8NBF6 OTTHUMG00000152929 ENST00000318709.4:c.195C>T 7.__UNKNOWN__:g.32582854C>T Q92573 __UNKNOWN__ CCDS34613.1 AVL9-003 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000328643.1 + ENST00000318709.4 Silent SNP PCPG-TCGA-RT-A6Y9-Normal-SM-5EQF8 PRRC2B 84726 broad.mit.edu 37 9 134357838 134357838 + Silent SNP G G A TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chr9:134357838G>A ENST00000405995.1 + 20.0 3208 c.2982G>A c.(2980-2982)caG>caA p.Q994Q PRRC2B_ENST00000357304.4_Silent_p.Q1688Q|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Silent_p.Q994Q Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 1688.0 poly(A) RNA binding (GO:0044822) cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44.0 CCTCCTCGCAGCGCAGCTCCC 0.612 0 113.0 119.0 117.0 9 134357838.0 1968.0 4153.0 6121.0 SO:0001819 synonymous_variant AB011087 CCDS48044.1 9q34.13 2010-12-09 2010-12-09 2010-12-09 ENSG00000130723 ENSG00000130723 84726.0 84726.0 28121.0 protein-coding gene gene with protein product """KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1""" KIAA0515, BAT2L, BAT2L1 9628581 Standard NM_013318 Approved MGC10526, LQFBS-1 uc004can.4 Q5JSZ5 OTTHUMG00000020827 ENST00000405995.1:c.2982G>A 9.__UNKNOWN__:g.134357838G>A O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683 __UNKNOWN__ . . . . . . . . . . G 8.652 0.898417 0.17686 . . ENSG00000130723 ENST00000451855 . . . 4.92 4.02 0.46733 . . . . . T 0.58623 0.2135 . . . 0.80722 D 1 . . . . . . T 0.55121 -0.8190 4 . . . -33.0147 8.5002 0.33152 0.1752:0.0:0.8248:0.0 . . . . T 421 . . A + 1 0 PRRC2B 133347659 1.000000 0.71417 0.998000 0.56505 0.926000 0.56050 3.101000 0.50283 1.068000 0.40764 0.561000 0.74099 GCG PRRC2B-001 KNOWN basic protein_coding protein_coding OTTHUMT00000054751.1 + ENST00000405995.1 Silent SNP PCPG-TCGA-RT-A6Y9-Normal-SM-5EQF8 STAG2 10735 broad.mit.edu 37 X 123171406 123171407 + Frame_Shift_Ins INS - - A TCGA-RT-A6Y9-01A-12D-A35D-08 TCGA-RT-A6Y9-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f381cc40-8e51-4922-ac81-66b18cc1cba5 94f22612-3815-4738-9c53-6503f1207146 g.chrX:123171406_123171407insA ENST00000218089.9 + 6.0 828_829 c.318_319insA c.(319-321)aagfs p.K107fs STAG2_ENST00000371157.3_Frame_Shift_Ins_p.K107fs|STAG2_ENST00000371144.3_Frame_Shift_Ins_p.K107fs|STAG2_ENST00000371160.1_Frame_Shift_Ins_p.K107fs|STAG2_ENST00000371145.3_Frame_Shift_Ins_p.K107fs|STAG2_ENST00000354548.5_Frame_Shift_Ins_p.K38fs|STAG2_ENST00000469481.1_Intron NM_001042749.1 NP_001036214.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 107.0 meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827) actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) chromatin binding (GO:0003682) 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) 78.0 TAGAATCATACAAGCATGACCG 0.327 0 SO:0001589 frameshift_variant Z75331 CCDS14607.1, CCDS43990.1 Xq25 2014-09-17 ENSG00000101972 ENSG00000101972 10735.0 10735.0 11355.0 protein-coding gene gene with protein product 300826.0 9305759 Standard NM_006603 NM_001042750 Approved SA-2, SCC3B uc004eua.3 Q8N3U4 OTTHUMG00000022725 ENST00000218089.9:c.320dupA X.__UNKNOWN__:g.123171408_123171408dupA ENSP00000218089:p.Lys107fs B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8 __UNKNOWN__ CCDS43990.1 STAG2-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000106726.2 + ENST00000218089.9 Frame_Shift_Ins INS PCPG-TCGA-RT-A6Y9-Normal-SM-5EQF8 TAB3 257397 broad.mit.edu 37 X 30877655 30877655 + Silent SNP T T C TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chrX:30877655T>C ENST00000378933.1 - 2.0 228 c.51A>G c.(49-51)cgA>cgG p.R17R TAB3_ENST00000288422.2_Silent_p.R17R|TAB3_ENST00000378932.2_Silent_p.R17R|TAB3_ENST00000378930.3_Silent_p.R17R NM_152787.3 NP_690000.2 Q8N5C8 TAB3_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 3 17.0 CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}. activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27.0 GGAAACGTTGTCGAAGATCAT 0.448 Pancreas(164;1598 1985 29022 43301 49529) 0 99.0 78.0 85.0 X 30877655.0 2202.0 4300.0 6502.0 SO:0001819 synonymous_variant AY331591 CCDS14226.1 Xp21.2 2010-02-05 2010-02-05 2010-02-05 ENSG00000157625 ENSG00000157625 257397.0 257397.0 30681.0 protein-coding gene gene with protein product """TAK1 binding protein 3""" 300480.0 """mitogen-activated protein kinase kinase kinase 7 interacting protein 3""" MAP3K7IP3 14633987, 14670075 Standard NM_152787 XM_005274482 Approved uc004dcj.3 Q8N5C8 OTTHUMG00000021329 ENST00000378933.1:c.51A>G X.__UNKNOWN__:g.30877655T>C A6NDD9|Q6VQR0 __UNKNOWN__ CCDS14226.1 TAB3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056173.1 - ENST00000378933.1 Silent SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 TDRD9 122402 broad.mit.edu 37 14 104473169 104473169 + Missense_Mutation SNP T T C TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr14:104473169T>C ENST00000409874.4 + 18.0 2042 c.1994T>C c.(1993-1995)gTt>gCt p.V665A TDRD9_ENST00000339063.5_Missense_Mutation_p.V665A NM_153046.2 NP_694591.2 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 665.0 cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283) nucleus (GO:0005634)|piP-body (GO:0071547) ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676) 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) 33.0 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) ATTGCACTTGTTGAGGCATTT 0.358 0 73.0 64.0 67.0 14 104473169.0 2203.0 4300.0 6503.0 SO:0001583 missense AK093483 CCDS9987.2 14q32.33 2013-01-23 2004-04-01 2004-04-02 ENSG00000156414 ENSG00000156414 122402.0 122402.0 """Tudor domain containing""" 20122.0 protein-coding gene gene with protein product """chromosome 14 open reading frame 75""" C14orf75 Standard NM_153046 NM_153046 Approved DKFZp434N0820, FLJ36164, NET54 uc001yom.4 Q8NDG6 OTTHUMG00000152876 ENST00000409874.4:c.1994T>C 14.__UNKNOWN__:g.104473169T>C ENSP00000387303:p.Val665Ala A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9 __UNKNOWN__ CCDS9987.2 . . . . . . . . . . T 19.43 3.826620 0.71143 . . ENSG00000156414 ENST00000409874;ENST00000339063 T;T 0.02656 4.21;4.21 5.37 5.37 0.77165 Helicase-associated domain (1); 0.089497 0.46758 D 0.000264 T 0.08447 0.0210 M 0.62723 1.935 0.58432 D 0.999999 P;B 0.52061 0.95;0.16 P;B 0.49999 0.628;0.314 T 0.01748 -1.1282 10 0.87932 D 0 . 15.3623 0.74487 0.0:0.0:0.0:1.0 . 665;665 Q8NDG6-2;Q8NDG6 .;TDRD9_HUMAN A 665 ENSP00000387303:V665A;ENSP00000343545:V665A ENSP00000343545:V665A V + 2 0 TDRD9 103542922 0.997000 0.39634 0.225000 0.23894 0.854000 0.48673 3.957000 0.56730 2.023000 0.59567 0.455000 0.32223 GTT TDRD9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000328325.3 + ENST00000409874.4 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 ARHGAP30 257106 broad.mit.edu 37 1 161039405 161039405 + Missense_Mutation SNP G G A rs149081252 TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr1:161039405G>A ENST00000368013.3 - 1.0 330 c.10C>T c.(10-12)Cgg>Tgg p.R4W ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R4W NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 4.0 regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231) GTPase activator activity (GO:0005096) 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) 37.0 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CCTTTCTGCCGAGACTTCATG 0.637 0 G TRP/ARG,TRP/ARG 2,4404 4.2+/-10.8 0,2,2201 90.0 83.0 85.0 10,10 4.6 1.0 1 dbSNP_134 85.0 0,8600 0,0,4300 no missense,missense ARHGAP30 NM_001025598.1,NM_181720.2 101,101 0,2,6501 AA,AG,GG 0.0,0.0454,0.0154 probably-damaging,probably-damaging 4/1102,4/891 161039405.0 2,13004 2203.0 4300.0 6503.0 SO:0001583 missense AL832852 CCDS1215.1, CCDS30918.1, CCDS72958.1 1q23.3 2011-06-29 ENSG00000186517 ENSG00000186517 257106.0 257106.0 """Rho GTPase activating proteins""" 27414.0 protein-coding gene gene with protein product 614264.0 Standard NM_181720 NM_001287602 Approved FLJ00267 uc001fxl.3 Q7Z6I6 OTTHUMG00000031477 ENST00000368013.3:c.10C>T 1.__UNKNOWN__:g.161039405G>A ENSP00000356992:p.Arg4Trp Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7 __UNKNOWN__ CCDS30918.1 . . . . . . . . . . G 19.65 3.866667 0.72065 4.54E-4 0.0 ENSG00000186517 ENST00000368016;ENST00000368013 T;T 0.15139 2.6;2.45 4.64 4.64 0.57946 Rho GTPase-activating protein domain (1); 0.069143 0.56097 D 0.000040 T 0.26629 0.0651 L 0.54323 1.7 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.81914 0.991;0.995 T 0.01242 -1.1408 10 0.87932 D 0 . 12.876 0.57989 0.0:0.0:1.0:0.0 . 4;4 Q7Z6I6;Q7Z6I6-2 RHG30_HUMAN;. W 4 ENSP00000356995:R4W;ENSP00000356992:R4W ENSP00000356992:R4W R - 1 2 ARHGAP30 159306029 1.000000 0.71417 1.000000 0.80357 0.934000 0.57294 3.535000 0.53575 2.376000 0.81061 0.655000 0.94253 CGG ARHGAP30-007 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077090.2 - ENST00000368013.3 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 ATXN2 6311 broad.mit.edu 37 12 111894043 111894043 + Silent SNP G G A TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr12:111894043G>A ENST00000542287.2 - 23.0 2901 c.2739C>T c.(2737-2739)gcC>gcT p.A913A ATXN2_ENST00000535949.1_Silent_p.A871A|ATXN2_ENST00000608853.1_Silent_p.A1018A|ATXN2_ENST00000377617.3_Silent_p.A1178A|ATXN2_ENST00000389153.4_Silent_p.A915A|ATXN2_ENST00000550104.1_3'UTR Q99700 ATX2_HUMAN ataxin 2 1178.0 cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063) cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802) epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723) 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) 37.0 GAGCCTGGGCGGCCTGGTGCT 0.552 0 135.0 126.0 129.0 12 111894043.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U80749 CCDS31902.1 12q23-q24.1 2014-09-17 2004-08-12 2004-08-13 ENSG00000204842 ENSG00000204842 6311.0 6311.0 """Ataxins""" 10555.0 protein-coding gene gene with protein product """trinucleotide repeat containing 13""" 601517.0 """spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)""" SCA2, TNRC13 8358438, 9225980 Standard NM_002973 NM_002973 Approved ATX2 uc001tsj.3 Q99700 OTTHUMG00000133475 ENST00000542287.2:c.2739C>T 12.__UNKNOWN__:g.111894043G>A A6NLD4|Q6ZQZ7|Q99493 __UNKNOWN__ . . . . . . . . . . G 13.12 2.143230 0.37825 . . ENSG00000204842 ENST00000550889 . . . 5.95 -5.31 0.02730 . . . . . T 0.50582 0.1624 . . . 0.80722 D 1 . . . . . . T 0.57625 -0.7779 5 0.87932 D 0 -9.3575 1.933 0.03331 0.473:0.1142:0.1187:0.2941 . . . . L 63 . ENSP00000449162:P63L P - 2 0 ATXN2 110378426 0.018000 0.18449 0.932000 0.37286 0.981000 0.71138 -0.906000 0.04071 -0.853000 0.04136 -1.149000 0.01842 CCG ATXN2-011 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000404980.1 - ENST00000542287.2 Silent SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 IRF9 10379 broad.mit.edu 37 14 24633826 24633826 + Missense_Mutation SNP A A G TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr14:24633826A>G ENST00000557894.1 + 6.0 539 c.347A>G c.(346-348)tAc>tGc p.Y116C IRF9_ENST00000396864.3_Missense_Mutation_p.Y218C|RP11-468E2.4_ENST00000558468.1_3'UTR Q00978 IRF9_HUMAN interferon regulatory factor 9 218.0 cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16.0 GBM - Glioblastoma multiforme(265;0.00853) TCCCCAGACTACTCACTGCTG 0.642 0 83.0 83.0 83.0 14 24633826.0 2202.0 4295.0 6497.0 SO:0001583 missense M87503 CCDS9615.1 14q11.2 2007-07-06 2007-07-06 2007-07-06 ENSG00000213928 ENSG00000213928 10379.0 10379.0 6131.0 protein-coding gene gene with protein product 147574.0 """interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa""" ISGF3G 1630447, 10199920 Standard NM_006084 Approved uc001wmq.3 Q00978 OTTHUMG00000028799 ENST00000557894.1:c.347A>G 14.__UNKNOWN__:g.24633826A>G ENSP00000453534:p.Tyr116Cys D3DS61 __UNKNOWN__ . . . . . . . . . . A 14.79 2.639555 0.47153 . . ENSG00000213928 ENST00000396864 D 0.94897 -3.55 5.32 1.39 0.22231 SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1); 0.177258 0.37530 U 0.002055 D 0.92388 0.7584 L 0.37850 1.14 0.34445 D 0.700012 D 0.65815 0.995 P 0.60236 0.871 D 0.89878 0.4028 10 0.33141 T 0.24 -16.9105 4.0443 0.09766 0.5917:0.0:0.089:0.3193 . 218 Q00978 IRF9_HUMAN C 218 ENSP00000380073:Y218C ENSP00000380073:Y218C Y + 2 0 IRF9 23703666 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 0.681000 0.25320 0.404000 0.25506 0.460000 0.39030 TAC IRF9-004 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000416079.1 + ENST00000557894.1 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 COLGALT2 23127 broad.mit.edu 37 1 183914685 183914685 + Missense_Mutation SNP T T G TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr1:183914685T>G ENST00000361927.4 - 9.0 1521 c.1150A>C c.(1150-1152)Agc>Cgc p.S384R COLGALT2_ENST00000367521.1_5'UTR|COLGALT2_ENST00000546159.1_Missense_Mutation_p.S384R|COLGALT2_ENST00000367520.3_Missense_Mutation_p.S121R NM_015101.2 NP_055916.1 Q8IYK4 GT252_HUMAN collagen beta(1-O)galactosyltransferase 2 384.0 extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103) endoplasmic reticulum lumen (GO:0005788) procollagen galactosyltransferase activity (GO:0050211) TTCAGCTGGCTTGTGTTGAGT 0.488 0 131.0 128.0 129.0 1 183914685.0 2203.0 4300.0 6503.0 SO:0001583 missense AF288389 CCDS1360.1 1q25 2013-02-27 2013-02-27 2013-02-27 ENSG00000198756 ENSG00000198756 23127.0 23127.0 16790.0 protein-coding gene gene with protein product """chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2""" C1orf17, GLT25D2 19075007 Standard NM_015101 XM_005245008 Approved KIAA0584 uc001gqr.3 Q8IYK4 OTTHUMG00000035460 ENST00000361927.4:c.1150A>C 1.__UNKNOWN__:g.183914685T>G ENSP00000354960:p.Ser384Arg O60327|Q9BZR0 __UNKNOWN__ CCDS1360.1 . . . . . . . . . . T 20.7 4.029135 0.75504 . . ENSG00000198756 ENST00000546159;ENST00000361927;ENST00000367520 T;T 0.78924 -1.21;-1.22 5.39 5.39 0.77823 . 0.147534 0.64402 D 0.000010 D 0.87661 0.6233 M 0.77712 2.385 0.53688 D 0.999975 D;D;D 0.76494 0.999;0.996;0.998 D;D;D 0.75020 0.967;0.985;0.985 D 0.88868 0.3331 10 0.59425 D 0.04 -16.0238 15.3979 0.74812 0.0:0.0:0.0:1.0 . 384;384;121 F5H3T5;Q8IYK4;Q5SXQ3 .;GT252_HUMAN;. R 384;384;121 ENSP00000439112:S384R;ENSP00000354960:S384R ENSP00000354960:S384R S - 1 0 GLT25D2 182181308 1.000000 0.71417 1.000000 0.80357 0.957000 0.61999 4.788000 0.62439 2.042000 0.60477 0.455000 0.32223 AGC COLGALT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086128.1 - ENST00000361927.4 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 SLC12A8 84561 broad.mit.edu 37 3 124854521 124854521 + Missense_Mutation SNP G G A TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr3:124854521G>A ENST00000393469.4 - 5.0 777 c.728C>T c.(727-729)gCg>gTg p.A243V SLC12A8_ENST00000423114.2_Missense_Mutation_p.A272V|SLC12A8_ENST00000469902.1_Missense_Mutation_p.A243V|SLC12A8_ENST00000314584.7_5'UTR NM_001195483.1 NP_001182412 A0AV02 S12A8_HUMAN solute carrier family 12, member 8 243.0 potassium ion transport (GO:0006813) integral component of membrane (GO:0016021) symporter activity (GO:0015293) endometrium(2)|kidney(2)|lung(12) 16.0 ACCTGTAGCCGCTGGGAAGAA 0.448 0 52.0 52.0 52.0 3 124854521.0 1842.0 4089.0 5931.0 SO:0001583 missense CCDS43143.1 3q21.2 2013-07-18 2013-07-18 ENSG00000221955 ENSG00000221955 84561.0 84561.0 """Solute carriers""" 15595.0 protein-coding gene gene with protein product """solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9""" 611316.0 11863360 Standard NM_024628 NM_024628 Approved CCC9 uc003ehv.4 A0AV02 OTTHUMG00000159483 ENST00000393469.4:c.728C>T 3.__UNKNOWN__:g.124854521G>A ENSP00000377112:p.Ala243Val C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9 __UNKNOWN__ CCDS43143.1 . . . . . . . . . . g 25.9 4.689803 0.88735 . . ENSG00000221955 ENST00000393469;ENST00000423114;ENST00000469902;ENST00000479826 D;D;D;D 0.99143 -5.48;-5.48;-5.48;-5.48 5.14 5.14 0.70334 Amino acid permease domain (1); . . . . D 0.99330 0.9765 M 0.90650 3.135 0.80722 D 1 D;P;D 0.89917 1.0;0.899;0.995 D;P;P 0.67382 0.951;0.559;0.892 D 0.98832 1.0751 9 0.87932 D 0 . 15.6479 0.77068 0.0:0.0:1.0:0.0 . 135;272;243 B5MDT1;A0AV02-2;A0AV02 .;.;S12A8_HUMAN V 243;272;243;125 ENSP00000377112:A243V;ENSP00000404243:A272V;ENSP00000418783:A243V;ENSP00000420197:A125V ENSP00000377112:A243V A - 2 0 SLC12A8 126337211 1.000000 0.71417 0.807000 0.32361 0.920000 0.55202 6.401000 0.73256 2.664000 0.90586 0.550000 0.68814 GCG SLC12A8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355711.4 - ENST00000393469.4 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 KBTBD2 25948 broad.mit.edu 37 7 32910344 32910344 + Missense_Mutation SNP G G A TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr7:32910344G>A ENST00000304056.4 - 4.0 1184 c.485C>T c.(484-486)gCt>gTt p.A162V AVL9_ENST00000404479.1_Intron NM_015483.2 NP_056298.2 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 162.0 endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1) 17.0 GBM - Glioblastoma multiforme(11;0.0499) ATGATACACAGCAGTGAACTT 0.398 0 123.0 113.0 116.0 7 32910344.0 2203.0 4300.0 6503.0 SO:0001583 missense AB040922 CCDS34614.1 7p14.3 2013-01-08 2003-12-12 2003-12-12 ENSG00000170852 ENSG00000170852 25948.0 25948.0 """BTB/POZ domain containing""" 21751.0 protein-coding gene gene with protein product """BTB and kelch domain containing 1""" BKLHD1 10819331 Standard XM_291224 NM_015483 Approved DKFZP566C134 uc003tdb.2 Q8IY47 OTTHUMG00000152984 ENST00000304056.4:c.485C>T 7.__UNKNOWN__:g.32910344G>A ENSP00000302586:p.Ala162Val A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382 __UNKNOWN__ CCDS34614.1 . . . . . . . . . . G 6.697 0.497327 0.12762 . . ENSG00000170852 ENST00000304056 T 0.69685 -0.42 5.72 3.93 0.45458 BTB/Kelch-associated (2); 0.195495 0.53938 N 0.000042 T 0.50888 0.1642 N 0.17764 0.52 0.33491 D 0.588663 B 0.06786 0.001 B 0.04013 0.001 T 0.56571 -0.7957 10 0.44086 T 0.13 . 12.6831 0.56932 0.1336:0.0:0.8664:0.0 . 162 Q8IY47 KBTB2_HUMAN V 162 ENSP00000302586:A162V ENSP00000302586:A162V A - 2 0 KBTBD2 32876869 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 2.864000 0.48404 0.897000 0.36392 0.655000 0.94253 GCT KBTBD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000328890.1 - ENST00000304056.4 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 FGD6 55785 broad.mit.edu 37 12 95604019 95604019 + Missense_Mutation SNP G G C TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr12:95604019G>C ENST00000343958.4 - 2.0 1264 c.1041C>G c.(1039-1041)agC>agG p.S347R FGD6_ENST00000546711.1_Missense_Mutation_p.S347R|FGD6_ENST00000549499.1_Missense_Mutation_p.S347R NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 347.0 Poly-Ser. actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726) guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267) 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) 56.0 GACAGGAAGAGCTACTGTCTG 0.418 0 105.0 107.0 106.0 12 95604019.0 2203.0 4300.0 6503.0 SO:0001583 missense AB037783 CCDS31878.1 12q23.1 2013-01-10 ENSG00000180263 55785.0 55785.0 """Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing""" 21740.0 protein-coding gene gene with protein product 613520.0 Standard NM_018351 NM_018351 Approved ZFYVE24, FLJ11183 uc001tdp.4 Q6ZV73 OTTHUMG00000170133 ENST00000343958.4:c.1041C>G 12.__UNKNOWN__:g.95604019G>C ENSP00000344446:p.Ser347Arg Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5 __UNKNOWN__ CCDS31878.1 . . . . . . . . . . G 9.305 1.054051 0.19907 . . ENSG00000180263 ENST00000343958;ENST00000546711;ENST00000549499 T;T;T 0.67345 -0.16;-0.26;-0.18 5.71 5.71 0.89125 . 0.947990 0.08799 N 0.892073 T 0.55970 0.1954 N 0.22421 0.69 0.09310 N 1 B 0.28128 0.201 B 0.26969 0.075 T 0.49808 -0.8900 10 0.66056 D 0.02 0.0064 11.7743 0.51977 0.0869:0.0:0.9131:0.0 . 347 Q6ZV73 FGD6_HUMAN R 347 ENSP00000344446:S347R;ENSP00000450342:S347R;ENSP00000449005:S347R ENSP00000344446:S347R S - 3 2 FGD6 94128150 0.976000 0.34144 0.107000 0.21349 0.595000 0.36748 2.837000 0.48191 2.684000 0.91462 0.561000 0.74099 AGC FGD6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407600.1 - ENST00000343958.4 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 RYR1 6261 broad.mit.edu 37 19 38976754 38976754 + Missense_Mutation SNP G G A TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr19:38976754G>A ENST00000359596.3 + 34.0 5459 c.5459G>A c.(5458-5460)cGc>cAc p.R1820H RYR1_ENST00000355481.4_Missense_Mutation_p.R1820H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1820H P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1820.0 6 X approximate repeats. calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802) calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245) 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) 285.0 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786) GAGGCGGTGCGCGACGGTGGG 0.706 0 59.0 58.0 59.0 19 38976754.0 2203.0 4292.0 6495.0 SO:0001583 missense J05200 CCDS33011.1, CCDS42563.1 19q13.1 2014-09-17 ENSG00000196218 6261.0 6261.0 """Ion channels / Ryanodine receptors""" 10483.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 137""" 180901.0 """central core disease of muscle""" MHS, MHS1, CCO 1862346, 16621918 Standard NM_000540 Approved RYR, PPP1R137 uc002oit.3 P21817 ENST00000359596.3:c.5459G>A 19.__UNKNOWN__:g.38976754G>A ENSP00000352608:p.Arg1820His Q16314|Q16368|Q9NPK1|Q9P1U4 __UNKNOWN__ CCDS33011.1 . . . . . . . . . . G 9.869 1.198354 0.22037 . . ENSG00000196218 ENST00000359596;ENST00000355481;ENST00000360985 T;T;T 0.73152 -0.72;-0.72;-0.72 3.7 2.65 0.31530 . 0.568502 0.14066 U 0.343739 T 0.59702 0.2213 N 0.22421 0.69 0.23735 N 0.996982 D;D 0.65815 0.995;0.99 P;P 0.52309 0.648;0.695 T 0.48269 -0.9050 10 0.36615 T 0.2 . 2.8544 0.05568 0.2771:0.0:0.5137:0.2092 . 1820;1820 P21817-2;P21817 .;RYR1_HUMAN H 1820 ENSP00000352608:R1820H;ENSP00000347667:R1820H;ENSP00000354254:R1820H ENSP00000347667:R1820H R + 2 0 RYR1 43668594 0.015000 0.18098 0.610000 0.28997 0.810000 0.45777 0.929000 0.28844 0.746000 0.32786 0.585000 0.79938 CGC RYR1-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000462137.1 + ENST00000359596.3 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 MYO5C 55930 broad.mit.edu 37 15 52488561 52488561 + Missense_Mutation SNP G G A TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr15:52488561G>A ENST00000261839.7 - 39.0 5101 c.4940C>T c.(4939-4941)aCa>aTa p.T1647I RP11-430B1.2_ENST00000560518.1_lincRNA NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1647.0 Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}. extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459) ATP binding (GO:0005524)|motor activity (GO:0003774) 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) 66.0 all cancers(107;0.0137) ATCACTGTCTGTGGTCTTCTT 0.512 0 110.0 114.0 113.0 15 52488561.0 2007.0 4168.0 6175.0 SO:0001583 missense AF272390 CCDS42036.1 15q21 2011-09-27 ENSG00000128833 55930.0 55930.0 """Myosins / Myosin superfamily : Class V""" 7604.0 protein-coding gene gene with protein product """myosin 5C""" 610022.0 11870218 Standard NM_018728 NM_018728 Approved MGC74969 uc010bff.3 Q9NQX4 ENST00000261839.7:c.4940C>T 15.__UNKNOWN__:g.52488561G>A ENSP00000261839:p.Thr1647Ile Q6P1W8 __UNKNOWN__ CCDS42036.1 . . . . . . . . . . G 26.3 4.724473 0.89298 . . ENSG00000128833 ENST00000261839 D 0.89746 -2.56 4.83 4.83 0.62350 Dilute (1);Dil domain (1); 0.000000 0.85682 D 0.000000 D 0.94637 0.8271 M 0.80746 2.51 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.95163 0.8283 10 0.72032 D 0.01 . 18.1264 0.89587 0.0:0.0:1.0:0.0 . 1647 Q9NQX4 MYO5C_HUMAN I 1647 ENSP00000261839:T1647I ENSP00000261839:T1647I T - 2 0 MYO5C 50275853 1.000000 0.71417 0.999000 0.59377 0.960000 0.62799 9.657000 0.98554 2.522000 0.85027 0.462000 0.41574 ACA MYO5C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000419562.1 - ENST00000261839.7 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 SEC14L5 9717 broad.mit.edu 37 16 5057420 5057420 + Missense_Mutation SNP C C T TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr16:5057420C>T ENST00000251170.7 + 13.0 1685 c.1505C>T c.(1504-1506)aCg>aTg p.T502M NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 502.0 integral component of membrane (GO:0016021)|intracellular (GO:0005622) transporter activity (GO:0005215) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29.0 CAGGAGCACACGGACCAGCTG 0.647 0 44.0 47.0 46.0 16 5057420.0 2080.0 4203.0 6283.0 SO:0001583 missense AB007880 CCDS45403.1 16p13.3 2008-02-05 ENSG00000103184 9717.0 9717.0 29032.0 protein-coding gene gene with protein product 9455477 Standard NM_014692 Approved KIAA0420, PRELID4B uc002cye.2 O43304 ENST00000251170.7:c.1505C>T 16.__UNKNOWN__:g.5057420C>T ENSP00000251170:p.Thr502Met __UNKNOWN__ CCDS45403.1 . . . . . . . . . . C 8.411 0.844213 0.16963 . . ENSG00000103184 ENST00000251170 T 0.70631 -0.5 4.82 3.86 0.44501 Cellular retinaldehyde-binding/triple function, C-terminal (1); 0.410645 0.22883 N 0.054496 T 0.57021 0.2025 N 0.22421 0.69 0.09310 N 1 P 0.38473 0.633 B 0.36378 0.223 T 0.53244 -0.8466 10 0.49607 T 0.09 -25.3283 14.263 0.66097 0.1566:0.8434:0.0:0.0 . 502 O43304 S14L5_HUMAN M 502 ENSP00000251170:T502M ENSP00000251170:T502M T + 2 0 SEC14L5 4997421 0.007000 0.16637 0.001000 0.08648 0.049000 0.14656 2.221000 0.42917 1.234000 0.43709 0.555000 0.69702 ACG SEC14L5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000434379.1 + ENST00000251170.7 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 ASTL 431705 broad.mit.edu 37 2 96789863 96789863 + Missense_Mutation SNP T T A TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr2:96789863T>A ENST00000342380.2 - 9.0 1021 c.1022A>T c.(1021-1023)gAg>gTg p.E341V NM_001002036.3 NP_001002036.3 astacin-like metallo-endopeptidase (M12 family) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30.0 ATGTGGGCTCTCCCCAGGCCC 0.652 0 42.0 47.0 45.0 2 96789863.0 2203.0 4299.0 6502.0 SO:0001583 missense AJ537600 CCDS33249.1 2q11.1 2014-07-23 2006-10-10 ENSG00000188886 ENSG00000188886 431705.0 431705.0 3.4.24.21 31704.0 protein-coding gene gene with protein product """sperm acrosomal SLLP1 binding""" 608860.0 """astacin-like metalloendopeptidase (M12 family)""" 15087446 Standard NM_001002036 Approved ovastacin, SAS1B uc010yui.2 Q6HA08 OTTHUMG00000155212 ENST00000342380.2:c.1022A>T 2.__UNKNOWN__:g.96789863T>A ENSP00000343674:p.Glu341Val __UNKNOWN__ CCDS33249.1 . . . . . . . . . . T 13.73 2.324970 0.41197 . . ENSG00000188886 ENST00000342380 T 0.68765 -0.35 4.77 3.61 0.41365 . 1.101640 0.07105 N 0.841237 T 0.53802 0.1819 L 0.27053 0.805 0.09310 N 1 B 0.32693 0.38 B 0.32533 0.147 T 0.50533 -0.8817 10 0.87932 D 0 -8.975 6.5764 0.22569 0.0:0.1081:0.0:0.8919 . 341 Q6HA08 ASTL_HUMAN V 341 ENSP00000343674:E341V ENSP00000343674:E341V E - 2 0 ASTL 96153590 0.044000 0.20184 0.173000 0.22940 0.030000 0.12068 0.526000 0.22971 1.919000 0.55581 0.454000 0.30748 GAG ASTL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000338801.1 - ENST00000342380.2 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 KIF5B 3799 broad.mit.edu 37 10 32304563 32304563 + Missense_Mutation SNP T T C TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr10:32304563T>C ENST00000302418.4 - 25.0 3243 c.2786A>G c.(2785-2787)cAt>cGt p.H929R NM_004521.2 NP_004512.1 P33176 KINH_HUMAN kinesin family member 5B 929.0 Globular. ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496) ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574) KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35.0 Prostate(175;0.0137) AGCTGCTGGATGTTGCCCGGG 0.448 T """RET, ALK""" NSCLC Dom yes 10 10p11.22 3799.0 kinesin family member 5B E 0 80.0 70.0 74.0 10 32304563.0 2203.0 4300.0 6503.0 SO:0001583 missense X65873 CCDS7171.1 10p11.22 2007-02-13 ENSG00000170759 ENSG00000170759 3799.0 3799.0 """Kinesins""" 6324.0 protein-coding gene gene with protein product 602809.0 KNS1 1607388 Standard NM_004521 NM_004521 Approved KNS uc001iwe.4 P33176 OTTHUMG00000017913 ENST00000302418.4:c.2786A>G 10.__UNKNOWN__:g.32304563T>C ENSP00000307078:p.His929Arg A0AVB2|Q5VZ85 __UNKNOWN__ CCDS7171.1 . . . . . . . . . . T 13.16 2.154790 0.38021 . . ENSG00000170759 ENST00000302418 T 0.74421 -0.84 5.6 5.6 0.85130 . 0.051593 0.85682 D 0.000000 T 0.73536 0.3599 M 0.71036 2.16 0.47441 D 0.999423 B 0.24533 0.105 B 0.22880 0.042 T 0.69793 -0.5049 10 0.29301 T 0.29 . 16.0773 0.80976 0.0:0.0:0.0:1.0 . 929 P33176 KINH_HUMAN R 929 ENSP00000307078:H929R ENSP00000307078:H929R H - 2 0 KIF5B 32344569 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 2.729000 0.47327 2.254000 0.74563 0.482000 0.46254 CAT KIF5B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047467.1 - ENST00000302418.4 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 MAGEC1 9947 broad.mit.edu 37 X 140994473 140994473 + Missense_Mutation SNP C C T TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chrX:140994473C>T ENST00000285879.4 + 4.0 1569 c.1283C>T c.(1282-1284)cCt>cTt p.P428L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 428.0 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) 127.0 Acute lymphoblastic leukemia(192;6.56e-05) CAGAGTTCTCCTGAGAGTGCT 0.448 HNSCC(15;0.026) 0 102.0 111.0 108.0 X 140994473.0 2194.0 4290.0 6484.0 SO:0001583 missense AF064589 CCDS35417.1 Xq26 2009-03-18 ENSG00000155495 ENSG00000155495 9947.0 9947.0 6812.0 protein-coding gene gene with protein product """cancer/testis antigen family 7, member 1""" 300223.0 9485030, 9618514 Standard NM_005462 NM_005462 Approved MAGE-C1, CT7, MGC39366, CT7.1 uc004fbt.3 O60732 OTTHUMG00000022569 ENST00000285879.4:c.1283C>T X.__UNKNOWN__:g.140994473C>T ENSP00000285879:p.Pro428Leu A0PK03|O75451|Q8TCV4 __UNKNOWN__ CCDS35417.1 . . . . . . . . . . c 5.018 0.189098 0.09547 . . ENSG00000155495 ENST00000285879 T 0.06768 3.26 . . . . . . . . T 0.03348 0.0097 N 0.08118 0 0.09310 N 1 P 0.38110 0.618 B 0.28638 0.092 T 0.39881 -0.9592 8 0.87932 D 0 . 5.9409 0.19192 0.0:0.9994:0.0:6.0E-4 . 428 O60732 MAGC1_HUMAN L 428 ENSP00000285879:P428L ENSP00000285879:P428L P + 2 0 MAGEC1 140822139 0.002000 0.14202 0.005000 0.12908 0.005000 0.04900 0.619000 0.24388 0.148000 0.19059 0.150000 0.16122 CCT MAGEC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000058604.1 + ENST00000285879.4 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 FBXL20 84961 broad.mit.edu 37 17 37420555 37420555 + Missense_Mutation SNP A A G TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr17:37420555A>G ENST00000264658.6 - 14.0 1336 c.1076T>C c.(1075-1077)aTt>aCt p.I359T FBXL20_ENST00000394294.3_Missense_Mutation_p.I327T|FBXL20_ENST00000583610.1_Missense_Mutation_p.I359T|FBXL20_ENST00000577399.1_Missense_Mutation_p.I361T NM_032875.2 NP_116264.2 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 359.0 behavioral fear response (GO:0001662) cytoplasm (GO:0005737) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22.0 LUAD - Lung adenocarcinoma(14;0.146) GTCCAGCTCAATCACCTCCAG 0.522 0 114.0 95.0 102.0 17 37420555.0 2203.0 4300.0 6503.0 SO:0001583 missense BC007557 CCDS32640.1, CCDS54116.1 17q21.2 2011-06-09 ENSG00000108306 84961.0 84961.0 """F-boxes / Leucine-rich repeats""" 24679.0 protein-coding gene gene with protein product 609086.0 12477932 Standard NM_032875 NM_032875 Approved MGC15482, Fbl2, Fbl20 uc002hrt.3 Q96IG2 ENST00000264658.6:c.1076T>C 17.__UNKNOWN__:g.37420555A>G ENSP00000264658:p.Ile359Thr A8K729|Q38J52 __UNKNOWN__ CCDS32640.1 . . . . . . . . . . A 24.2 4.504822 0.85176 . . ENSG00000108306 ENST00000264658;ENST00000394294 T;T 0.56103 0.48;0.48 5.6 5.6 0.85130 . 0.000000 0.85682 D 0.000000 T 0.46347 0.1388 L 0.46157 1.445 0.80722 D 1 P;P 0.39862 0.692;0.57 B;B 0.33620 0.167;0.071 T 0.53697 -0.8402 10 0.87932 D 0 . 15.7399 0.77887 1.0:0.0:0.0:0.0 . 327;359 Q96IG2-2;Q96IG2 .;FXL20_HUMAN T 359;327 ENSP00000264658:I359T;ENSP00000377832:I327T ENSP00000264658:I359T I - 2 0 FBXL20 34674081 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 9.287000 0.95975 2.254000 0.74563 0.460000 0.39030 ATT FBXL20-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000444315.2 - ENST00000264658.6 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 RLTPR 146206 broad.mit.edu 37 16 67680391 67680391 + Missense_Mutation SNP C C T TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr16:67680391C>T ENST00000334583.6 + 6.0 765 c.437C>T c.(436-438)tCg>tTg p.S146L RLTPR_ENST00000545661.1_Missense_Mutation_p.S146L NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 146.0 cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020) breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18.0 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) AGCAGCCCCTCGGAGTCCACT 0.652 0 43.0 49.0 47.0 16 67680391.0 1949.0 4158.0 6107.0 SO:0001583 missense AB113647 CCDS45513.1 16q22.1 2010-09-10 ENSG00000159753 146206.0 146206.0 27089.0 protein-coding gene gene with protein product """RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C""" 610859.0 15588584, 19846667 Standard NM_001013838 XM_005255807 Approved LRRC16C, CARMIL2 uc002etn.3 Q6F5E8 ENST00000334583.6:c.437C>T 16.__UNKNOWN__:g.67680391C>T ENSP00000334958:p.Ser146Leu B8X2Z3 __UNKNOWN__ CCDS45513.1 . . . . . . . . . . C 4.560 0.104001 0.08731 . . ENSG00000159753 ENST00000334583;ENST00000545661 T;T 0.14766 2.54;2.48 4.87 -0.84 0.10755 . 3.336290 0.02247 N 0.066329 T 0.12220 0.0297 L 0.32530 0.975 0.09310 N 1 B;B 0.16396 0.0;0.017 B;B 0.10450 0.0;0.005 T 0.33979 -0.9847 10 0.23302 T 0.38 -7.4372 10.0101 0.41981 0.0:0.5638:0.0:0.4362 . 146;146 B8X2Z3;Q6F5E8 .;LR16C_HUMAN L 146 ENSP00000334958:S146L;ENSP00000441481:S146L ENSP00000334958:S146L S + 2 0 RLTPR 66237892 0.000000 0.05858 0.272000 0.24630 0.002000 0.02628 -0.546000 0.06062 0.008000 0.14787 -1.149000 0.01842 TCG RLTPR-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000467858.1 + ENST00000334583.6 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 FOXM1 2305 broad.mit.edu 37 12 2970493 2970493 + Missense_Mutation SNP A A G TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr12:2970493A>G ENST00000361953.3 - 8.0 1389 FOXM1_ENST00000359843.3_Intron|FOXM1_ENST00000342628.2_Missense_Mutation_p.L451S NM_001243088.1|NM_001243089.1|NM_202003.2 NP_001230017.1|NP_001230018.1|NP_973732.1 Q08050 FOXM1_HUMAN forkhead box M1 cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24.0 OV - Ovarian serous cystadenocarcinoma(31;0.000622) aaaattaaacaagctggtgat 0.363 0 71.0 66.0 68.0 12 2970493.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant Y12773 CCDS8515.1, CCDS8516.1, CCDS8517.1 12p13 2007-09-18 ENSG00000111206 ENSG00000111206 2305.0 2305.0 """Forkhead boxes""" 3818.0 protein-coding gene gene with protein product """M-phase phosphoprotein 2""" 602341.0 FKHL16 9032290, 9441747 Standard NM_021953 NM_202002 Approved HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3 uc001qlf.3 Q08050 OTTHUMG00000168118 ENST00000361953.3:c.1222-1664T>C 12.__UNKNOWN__:g.2970493A>G O43258|O43259|O43260|Q4ZGG7|Q9BRL2 __UNKNOWN__ CCDS8517.1 . . . . . . . . . . A 10.24 1.296105 0.23650 . . ENSG00000111206 ENST00000342628 D 0.94184 -3.37 0.865 0.865 0.19074 . . . . . D 0.92116 0.7501 . . . 0.33007 D 0.527072 D 0.62365 0.991 D 0.65323 0.934 D 0.87995 0.2752 8 0.13470 T 0.59 . 3.9806 0.09493 1.0:0.0:0.0:0.0 . 451 Q08050-3 . S 451 ENSP00000342307:L451S ENSP00000342307:L451S L - 2 0 FOXM1 2840754 0.006000 0.16342 0.494000 0.27515 0.036000 0.12997 -0.007000 0.12810 0.637000 0.30526 0.164000 0.16699 TTG FOXM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398271.1 - ENST00000361953.3 Intron SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 NPHS1 4868 broad.mit.edu 37 19 36333388 36333388 + Missense_Mutation SNP C C T rs146400394 TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr19:36333388C>T ENST00000378910.5 - 18.0 2398 c.2399G>A c.(2398-2400)cGc>cAc p.R800H NPHS1_ENST00000353632.6_Missense_Mutation_p.R800H NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 800.0 Ig-like C2-type 7. cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519) cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057) myosin binding (GO:0017022) p.R800H(1) NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74.0 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AATCCGCAGGCGCCCCGTTGG 0.607 C 1.0 0.0005 0.002 2184.0 1.0 , , 0.0003 0.0005 1.0 EXOME 0.0013 SNP 1 Substitution - Missense(1) ovary(1) C HIS/ARG 1,4405 2.1+/-5.4 0,1,2202 94.0 90.0 92.0 2399 3.4 0.2 19 dbSNP_134 92.0 0,8600 0,0,4300 no missense NPHS1 NM_004646.3 29 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 probably-damaging 800/1242 36333388.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense CCDS32996.1 19q12-q13.1 2014-09-17 ENSG00000161270 4868.0 4868.0 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 7908.0 protein-coding gene gene with protein product 602716.0 9915943, 9660941 Standard NM_004646 Approved CNF, NPHN uc002oby.3 O60500 ENST00000378910.5:c.2399G>A 19.__UNKNOWN__:g.36333388C>T ENSP00000368190:p.Arg800His A6NDH2|C3RX61 __UNKNOWN__ CCDS32996.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 C 0.629 -0.818010 0.02776 2.27E-4 0.0 ENSG00000161270 ENST00000378910;ENST00000353632 T;T 0.78707 -1.2;-1.2 4.46 3.43 0.39272 Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.340502 0.29791 N 0.011187 T 0.76912 0.4054 M 0.65498 2.005 0.09310 N 0.999992 D 0.55385 0.971 P 0.49597 0.616 T 0.65990 -0.6034 10 0.25751 T 0.34 -1.0032 8.212 0.31488 0.0:0.8912:0.0:0.1088 . 800 O60500 NPHN_HUMAN H 800 ENSP00000368190:R800H;ENSP00000343634:R800H ENSP00000343634:R800H R - 2 0 NPHS1 41025228 0.000000 0.05858 0.179000 0.23059 0.016000 0.09150 0.127000 0.15790 1.117000 0.41842 0.558000 0.71614 CGC NPHS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452553.1 - ENST00000378910.5 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 DGAT2 84649 broad.mit.edu 37 11 75509417 75509417 + Missense_Mutation SNP C C T TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr11:75509417C>T ENST00000228027.7 + 7.0 1215 c.955C>T c.(955-957)Ctc>Ttc p.L319F DGAT2_ENST00000376262.3_Missense_Mutation_p.L276F NM_032564.4 NP_115953.2 Q96PD7 DGAT2_HUMAN diacylglycerol O-acyltransferase 2 319.0 acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471) 2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252) endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2) 17.0 Ovarian(111;0.103) TGGTCGAGGCCTCTTCTCCTC 0.587 Melanoma(35;811 1096 8354 24009 39363) 0 82.0 70.0 74.0 11 75509417.0 2200.0 4293.0 6493.0 SO:0001583 missense CCDS31642.1, CCDS58162.1 11q13.3 2010-06-24 2010-06-24 ENSG00000062282 ENSG00000062282 84649.0 84649.0 16940.0 protein-coding gene gene with protein product 606983.0 """diacylglycerol O-acyltransferase homolog 2 (mouse)""" 11481335, 14970677 Standard NM_032564 NM_032564 Approved uc001oxa.3 Q96PD7 OTTHUMG00000165338 ENST00000228027.7:c.955C>T 11.__UNKNOWN__:g.75509417C>T ENSP00000228027:p.Leu319Phe A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5 __UNKNOWN__ CCDS31642.1 . . . . . . . . . . C 14.05 2.420812 0.42918 . . ENSG00000062282 ENST00000228027;ENST00000376262;ENST00000525612 T;T 0.15952 2.38;2.38 5.59 -2.85 0.05734 . 0.374334 0.30686 N 0.009086 T 0.03827 0.0108 N 0.01297 -0.9 0.47905 D 0.999543 B;B 0.19935 0.04;0.004 B;B 0.21546 0.035;0.007 T 0.35076 -0.9803 10 0.29301 T 0.29 -9.7641 2.8998 0.05701 0.1109:0.3521:0.1091:0.428 . 276;319 Q96PD7-2;Q96PD7 .;DGAT2_HUMAN F 319;276;273 ENSP00000228027:L319F;ENSP00000365438:L276F ENSP00000228027:L319F L + 1 0 DGAT2 75187065 0.997000 0.39634 0.974000 0.42286 0.991000 0.79684 0.718000 0.25866 -0.441000 0.07201 -0.150000 0.13652 CTC DGAT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000383506.1 + ENST00000228027.7 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 ARID2 196528 broad.mit.edu 37 12 46246107 46246107 + Missense_Mutation SNP A A C TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr12:46246107A>C ENST00000334344.6 + 15.0 4373 c.4201A>C c.(4201-4203)Atc>Ctc p.I1401L ARID2_ENST00000422737.1_Missense_Mutation_p.I1252L|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.I1011L|ARID2_ENST00000457135.1_Missense_Mutation_p.I9L NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1401.0 chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) 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) 116.0 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) GACTTTAGATATCACTCAGCA 0.383 """N, S, F""" hepatocellular carcinoma Rec yes 12 12q12 196528.0 AT rich interactive domain 2 E 0 70.0 69.0 69.0 12 46246107.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS31783.1 12q13.11 2013-02-07 ENSG00000189079 ENSG00000189079 196528.0 196528.0 """-""" 18037.0 protein-coding gene gene with protein product 609539.0 Standard XM_350875 NM_152641 Approved KIAA1557, DKFZp686G052, FLJ30619, BAF200 uc001ros.1 Q68CP9 OTTHUMG00000150487 ENST00000334344.6:c.4201A>C 12.__UNKNOWN__:g.46246107A>C ENSP00000335044:p.Ile1401Leu Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5 __UNKNOWN__ CCDS31783.1 . . . . . . . . . . A 1.337 -0.595237 0.03771 . . ENSG00000189079 ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135 T 0.27557 1.66 6.07 3.19 0.36642 . 0.456013 0.26891 N 0.021979 T 0.12305 0.0299 N 0.03608 -0.345 0.21147 N 0.999775 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.10450 0.0;0.005;0.0 T 0.19745 -1.0296 10 0.34782 T 0.22 0.0677 6.1414 0.20261 0.2036:0.0:0.6652:0.1312 . 1401;1011;1401 Q68CP9-3;F8W108;Q68CP9 .;.;ARID2_HUMAN L 1401;518;518;1252;1011;9 ENSP00000335044:I1401L ENSP00000335044:I1401L I + 1 0 ARID2 44532374 1.000000 0.71417 0.999000 0.59377 0.933000 0.57130 1.618000 0.36954 0.451000 0.26802 -0.177000 0.13119 ATC ARID2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318380.2 + ENST00000334344.6 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 PADI2 11240 broad.mit.edu 37 1 17395638 17395638 + Silent SNP G G A rs61731909 TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr1:17395638G>A ENST00000375486.4 - 16.0 1962 c.1899C>T c.(1897-1899)gaC>gaT p.D633D PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Silent_p.D517D NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 633.0 chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327) calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29.0 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) CAGAAATGTCGTCGATGAAGG 0.597 0 G 2,4404 4.2+/-10.8 0,2,2201 115.0 105.0 108.0 1899 -8.4 0.4 1 dbSNP_129 108.0 0,8600 0,0,4300 no coding-synonymous PADI2 NM_007365.2 0,2,6501 AA,AG,GG 0.0,0.0454,0.0154 633/666 17395638.0 2,13004 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB030176 CCDS177.1 1p35.2-p35.1 2008-02-05 ENSG00000117115 ENSG00000117115 11240.0 11240.0 3.5.3.15 """Peptidyl arginine deiminases""" 18341.0 protein-coding gene gene with protein product 607935.0 2768262 Standard NM_007365 Approved KIAA0994, PDI2 uc001baf.3 Q9Y2J8 OTTHUMG00000002295 ENST00000375486.4:c.1899C>T 1.__UNKNOWN__:g.17395638G>A Q96DA7|Q9UPN2 __UNKNOWN__ CCDS177.1 PADI2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000006624.1 - ENST00000375486.4 Silent SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 LCT 3938 broad.mit.edu 37 2 136564823 136564823 + Missense_Mutation SNP C C T TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr2:136564823C>T ENST00000264162.2 - 9.0 4058 c.4048G>A c.(4048-4050)Gcc>Acc p.A1350T NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1350.0 4 X approximate repeats. carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016) 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) 124.0 BRCA - Breast invasive adenocarcinoma(221;0.169) Vitamin C(DB00126) CTGGCGGAGGCTCTTGCTGTG 0.517 0 218.0 169.0 185.0 2 136564823.0 2203.0 4300.0 6503.0 SO:0001583 missense X07994 CCDS2178.1 2q21 2014-09-17 ENSG00000115850 ENSG00000115850 3938.0 3938.0 3.2.1.108, 3.2.1.62 6530.0 protein-coding gene gene with protein product 603202.0 Standard NM_002299 NM_002299 Approved uc002tuu.1 P09848 OTTHUMG00000131738 ENST00000264162.2:c.4048G>A 2.__UNKNOWN__:g.136564823C>T ENSP00000264162:p.Ala1350Thr Q4ZG58 __UNKNOWN__ CCDS2178.1 . . . . . . . . . . C 10.37 1.330312 0.24167 . . ENSG00000115850 ENST00000264162;ENST00000455227 T 0.32753 1.44 5.87 -0.469 0.12142 Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1); 0.849281 0.11193 N 0.589663 T 0.17831 0.0428 L 0.31926 0.97 0.19575 N 0.999963 B 0.06786 0.001 B 0.11329 0.006 T 0.37220 -0.9715 10 0.07644 T 0.81 -7.0941 7.39 0.26905 0.0:0.3094:0.188:0.5026 . 1350 P09848 LPH_HUMAN T 1350;782 ENSP00000264162:A1350T ENSP00000264162:A1350T A - 1 0 LCT 136281293 0.990000 0.36364 0.990000 0.47175 0.922000 0.55478 0.558000 0.23469 -0.187000 0.10516 -0.797000 0.03246 GCC LCT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254657.1 - ENST00000264162.2 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 RALYL 138046 broad.mit.edu 37 8 85441675 85441675 + Missense_Mutation SNP C C A TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr8:85441675C>A ENST00000521268.1 + 2.0 1224 c.119C>A c.(118-120)gCc>gAc p.A40D RALYL_ENST00000522455.1_Missense_Mutation_p.A40D|RALYL_ENST00000518566.1_Missense_Mutation_p.A40D|RALYL_ENST00000521695.1_Missense_Mutation_p.A40D|RALYL_ENST00000517638.1_Missense_Mutation_p.A53D NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 40.0 RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}. nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24.0 GACATTGAAGCCATTTTTTCA 0.418 0 60.0 62.0 61.0 8 85441675.0 1973.0 4178.0 6151.0 SO:0001583 missense CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1 8q21.2 2013-07-16 ENSG00000184672 ENSG00000184672 138046.0 138046.0 """RNA binding motif (RRM) containing""" 27036.0 protein-coding gene gene with protein product 614648.0 12688537 Standard NM_001100391 Approved HNRPCL3 uc003yct.4 Q86SE5 OTTHUMG00000164628 ENST00000521268.1:c.119C>A 8.__UNKNOWN__:g.85441675C>A ENSP00000430367:p.Ala40Asp B3KTH2|G3V129|Q6ZW87|Q8N1C2 __UNKNOWN__ CCDS55253.1 . . . . . . . . . . C 17.75 3.465238 0.63513 . . ENSG00000184672 ENST00000522613;ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517988;ENST00000517638;ENST00000522647 T;T;T;T;T;T;T;T 0.38887 2.54;2.54;2.54;2.54;2.54;2.54;2.54;1.11 5.45 5.45 0.79879 Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3); 0.349517 0.29165 N 0.012952 T 0.23688 0.0573 N 0.01257 -0.925 0.80722 D 1 B;B;B 0.28419 0.06;0.058;0.211 B;B;B 0.32289 0.098;0.064;0.143 T 0.36866 -0.9730 10 0.72032 D 0.01 . 19.7001 0.96049 0.0:1.0:0.0:0.0 . 40;53;40 B3KT61;G3V129;Q86SE5 .;.;RALYL_HUMAN D 40;40;40;40;40;40;53;40 ENSP00000427787:A40D;ENSP00000430394:A40D;ENSP00000428667:A40D;ENSP00000430367:A40D;ENSP00000430065:A40D;ENSP00000428711:A40D;ENSP00000430128:A53D;ENSP00000429284:A40D ENSP00000430128:A53D A + 2 0 RALYL 85604230 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 3.693000 0.54735 2.732000 0.93576 0.551000 0.68910 GCC RALYL-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000379448.1 + ENST00000521268.1 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 FOXA2 3170 broad.mit.edu 37 20 22563313 22563313 + Missense_Mutation SNP G G C TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr20:22563313G>C ENST00000419308.2 - 2.0 751 c.567C>G c.(565-567)agC>agG p.S189R FOXA2_ENST00000377115.4_Missense_Mutation_p.S183R NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 183.0 adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22.0 Lung NSC(19;0.188) GGTAGATCTCGCTCAGCGTCA 0.587 0 135.0 117.0 123.0 20 22563313.0 2203.0 4300.0 6503.0 SO:0001583 missense AF147787 CCDS13147.1, CCDS46585.1 20p11 2008-04-10 2002-09-20 ENSG00000125798 ENSG00000125798 3170.0 3170.0 """Forkhead boxes""" 5022.0 protein-coding gene gene with protein product 600288.0 """hepatocyte nuclear factor 3, beta""" HNF3B 9119385, 11875061 Standard NM_153675 Approved uc002wsm.3 Q9Y261 OTTHUMG00000032041 ENST00000419308.2:c.567C>G 20.__UNKNOWN__:g.22563313G>C ENSP00000400341:p.Ser189Arg Q8WUW4|Q96DF7 __UNKNOWN__ CCDS46585.1 . . . . . . . . . . G 16.83 3.230300 0.58777 . . ENSG00000125798 ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877 D;D;D 0.95853 -3.83;-3.83;-3.83 4.98 3.81 0.43845 Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4); 0.183985 0.32273 U 0.006324 D 0.96756 0.8941 M 0.63169 1.94 0.58432 D 0.999999 D;D 0.76494 0.981;0.999 P;D 0.74348 0.64;0.983 D 0.96995 0.9725 10 0.87932 D 0 . 13.9539 0.64135 0.0897:0.0:0.9103:0.0 . 183;189 Q9Y261;B0ZTD4 FOXA2_HUMAN;. R 183;183;189;69 ENSP00000366319:S183R;ENSP00000400341:S183R;ENSP00000315955:S189R ENSP00000315955:S189R S - 3 2 FOXA2 22511313 1.000000 0.71417 1.000000 0.80357 0.949000 0.60115 0.865000 0.27940 2.304000 0.77564 0.574000 0.79327 AGC FOXA2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078290.2 - ENST00000419308.2 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 NF1 4763 broad.mit.edu 37 17 29556992 29556992 + Splice_Site SNP G G C TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr17:29556992G>C ENST00000358273.4 + 22.0 3373 c.2990G>C c.(2989-2991)aGg>aCg p.R997T NF1_ENST00000356175.3_Splice_Site_p.R997T NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 997.0 actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060) axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634) phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099) p.0?(8)|p.?(4)|p.R997K(1) 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) 599.0 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) AATCTGGTCAGGTAAGCATTC 0.353 """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) yes Rec yes Neurofibromatosis type 1 17 17q12 4763.0 neurofibromatosis type 1 gene O 13 Whole gene deletion(8)|Unknown(4)|Substitution - Missense(1) soft_tissue(7)|central_nervous_system(3)|autonomic_ganglia(2)|lung(1) 86.0 86.0 86.0 17 29556992.0 2201.0 4298.0 6499.0 SO:0001630 splice_region_variant Familial Cancer Database NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome CCDS11264.1, CCDS42292.1, CCDS45645.1 17q11.2 2014-09-17 2008-07-31 ENSG00000196712 ENSG00000196712 4763.0 4763.0 7765.0 protein-coding gene gene with protein product """neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease""" 613113.0 1715669 Standard NM_000267 NM_000267 Approved uc002hgg.3 P21359 OTTHUMG00000132871 ENST00000358273.4:c.2990+1G>C 17.__UNKNOWN__:g.29556992G>C O00662|Q14284|Q14930|Q14931|Q9UMK3 __UNKNOWN__ CCDS42292.1 . . . . . . . . . . . 32 5.138451 0.94560 . . ENSG00000196712 ENST00000358273;ENST00000356175;ENST00000456735 T;T;T 0.10382 3.05;3.19;2.88 5.46 5.46 0.80206 Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.36248 0.0960 M 0.75615 2.305 0.80722 D 1 D;D;D;D 0.89917 1.0;0.998;0.981;0.983 D;D;D;P 0.91635 0.999;0.94;0.962;0.908 T 0.05146 -1.0903 10 0.56958 D 0.05 . 19.3015 0.94145 0.0:0.0:1.0:0.0 . 997;47;997;997 E1P657;Q59FX3;P21359-2;P21359 .;.;.;NF1_HUMAN T 997;997;663 ENSP00000351015:R997T;ENSP00000348498:R997T;ENSP00000389907:R663T ENSP00000348498:R997T R + 2 0 NF1 26581118 1.000000 0.71417 1.000000 0.80357 0.959000 0.62525 9.434000 0.97515 2.550000 0.86006 0.455000 0.32223 AGG NF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256351.2 Missense_Mutation + ENST00000358273.4 Splice_Site SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 COL7A1 1294 bcgsc.ca 37 3 48604605 48604605 + Missense_Mutation SNP C C T TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr3:48604605C>T ENST00000328333.8 - 109.0 8172 c.8065G>A c.(8065-8067)Ggg>Agg p.G2689R COL7A1_ENST00000454817.1_Missense_Mutation_p.G2657R NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2689.0 Triple-helical region. cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198) basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615) serine-type endopeptidase inhibitor activity (GO:0004867) p.G2689W(1) 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) 137.0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCTGGCTGCCCGTCAAAGCCT 0.607 1 Substitution - Missense(1) lung(1) GRCh37 CM060933 COL7A1 M 111.0 97.0 102.0 3 48604605.0 2203.0 4300.0 6503.0 SO:0001583 missense L02870 CCDS2773.1 3p21.1 2014-09-17 2008-08-01 ENSG00000114270 ENSG00000114270 1294.0 1294.0 """Collagens"", ""Fibronectin type III domain containing""" 2214.0 protein-coding gene gene with protein product """collagen VII, alpha-1 polypeptide"", ""LC collagen""" 120120 """epidermolysis bullosa, dystrophic, dominant and recessive""" EBDCT, EBD1, EBR1 1871109 Standard NM_000094 NM_000094 Approved uc003ctz.2 Q02388 OTTHUMG00000133541 ENST00000328333.8:c.8065G>A 3.__UNKNOWN__:g.48604605C>T ENSP00000332371:p.Gly2689Arg Q14054|Q16507 __UNKNOWN__ CCDS2773.1 . . . . . . . . . . C 15.18 2.757733 0.49468 . . ENSG00000114270 ENST00000328333;ENST00000454817 D;D 0.99488 -6.0;-6.0 4.84 4.84 0.62591 . 0.000000 0.41097 D 0.000958 D 0.99764 0.9904 H 0.98980 4.39 0.52501 D 0.999951 D 0.89917 1.0 D 0.97110 1.0 D 0.96843 0.9619 10 0.72032 D 0.01 . 16.126 0.81395 0.0:1.0:0.0:0.0 . 2689 Q02388 CO7A1_HUMAN R 2689;2657 ENSP00000332371:G2689R;ENSP00000412569:G2657R ENSP00000332371:G2689R G - 1 0 COL7A1 48579609 1.000000 0.71417 1.000000 0.80357 0.900000 0.52787 7.116000 0.77119 2.236000 0.73375 0.563000 0.77884 GGG COL7A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257519.1 - ENST00000328333.8 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 Unknown 0 bcgsc.ca 37 5 32888116 32888116 + RNA DEL G G - TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr5:32888116delG NPR3 (96297 upstream) : CTD-2218G20.2 (59432 downstream) ATAAGTTTTTGTTTCTTCGGT 0.363 0 SO:0001628 intergenic_variant 5.__UNKNOWN__:g.32888116delG __UNKNOWN__ 0.0 IGR DEL PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 MEGF10 84466 ucsc.edu 37 5 126746173 126746173 + Missense_Mutation SNP G G A TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 05227ee7-4ecf-4dd2-bbff-9e457664f858 5d7caf6d-3e44-48f0-96f4-0838b3c38d98 g.chr5:126746173G>A ENST00000274473.6 + 10.0 1277 c.1010G>A c.(1009-1011)gGc>gAc p.G337D MEGF10_ENST00000508365.1_Missense_Mutation_p.G337D|MEGF10_ENST00000418761.2_Missense_Mutation_p.G337D|MEGF10_ENST00000503335.2_Missense_Mutation_p.G337D NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 337.0 EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841) cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891) breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68.0 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CACGTGAGCGGCGCATGCCTC 0.592 0 120.0 99.0 106.0 5 126746173.0 2203.0 4300.0 6503.0 SO:0001583 missense AK021631 CCDS4142.1 5q33 2008-02-05 ENSG00000145794 ENSG00000145794 84466.0 84466.0 29634.0 protein-coding gene gene with protein product 612453 11347906 Standard NM_032446 NM_032446 Approved KIAA1780 uc003kui.4 Q96KG7 OTTHUMG00000128984 ENST00000274473.6:c.1010G>A 5.__UNKNOWN__:g.126746173G>A ENSP00000274473:p.Gly337Asp Q68DE5|Q8WUL3 __UNKNOWN__ CCDS4142.1 . . . . . . . . . . G 18.90 3.722042 0.68959 . . ENSG00000145794 ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473 D;D;D;D 0.81579 -1.51;-1.51;-1.51;-1.51 5.93 5.93 0.95920 EGF-like, laminin (2);Epidermal growth factor-like, type 3 (1); 0.000000 0.85682 D 0.000000 D 0.91030 0.7178 M 0.83603 2.65 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 0.999;1.0 D 0.90636 0.4571 10 0.56958 D 0.05 -28.5093 20.3539 0.98825 0.0:0.0:1.0:0.0 . 337;337 Q96KG7-2;Q96KG7 .;MEG10_HUMAN D 337 ENSP00000423354:G337D;ENSP00000423195:G337D;ENSP00000416284:G337D;ENSP00000274473:G337D ENSP00000274473:G337D G + 2 0 MEGF10 126774072 1.000000 0.71417 0.242000 0.24170 0.023000 0.10783 9.869000 0.99810 2.826000 0.97356 0.655000 0.94253 GGC MEGF10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250973.2 + ENST00000274473.6 Missense_Mutation SNP PCPG-TCGA-RT-A6YA-Normal-SM-5EQF2 OR7G3 390883 broad.mit.edu 37 19 9237506 9237506 + Missense_Mutation SNP C C T TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr19:9237506C>T ENST00000305444.2 - 1.0 120 c.121G>A c.(121-123)Ggg>Agg p.G41R NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 41.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15.0 AGCAGGTTCCCCAGCATTGTG 0.542 0 106.0 92.0 97.0 19 9237506.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS32899.1 19p13.2 2013-09-24 ENSG00000170920 ENSG00000170920 390883.0 390883.0 """GPCR / Class A : Olfactory receptors""" 8467.0 protein-coding gene gene with protein product Standard NM_001001958 Approved OST085 uc010xkl.2 Q8NG95 OTTHUMG00000165520 ENST00000305444.2:c.121G>A 19.__UNKNOWN__:g.9237506C>T ENSP00000302867:p.Gly41Arg Q6IFJ6|Q96R99 __UNKNOWN__ CCDS32899.1 . . . . . . . . . . C 12.31 1.898396 0.33535 . . ENSG00000170920 ENST00000305444 T 0.04406 3.63 4.02 2.97 0.34412 GPCR, rhodopsin-like superfamily (1); 0.000000 0.42682 U 0.000679 T 0.20659 0.0497 M 0.92459 3.31 0.09310 N 0.999999 D 0.58970 0.984 P 0.56474 0.799 T 0.08806 -1.0704 10 0.87932 D 0 . 10.5484 0.45072 0.0:0.9025:0.0:0.0975 . 41 Q8NG95 OR7G3_HUMAN R 41 ENSP00000302867:G41R ENSP00000302867:G41R G - 1 0 OR7G3 9098506 0.000000 0.05858 0.348000 0.25681 0.061000 0.15899 0.554000 0.23407 1.040000 0.40099 0.558000 0.71614 GGG OR7G3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000384611.1 - ENST00000305444.2 Missense_Mutation SNP PCPG-TCGA-RT-A6YC-Normal-SM-5EQG1 NFYB 4801 broad.mit.edu 37 12 104517193 104517193 + Silent SNP T T C TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr12:104517193T>C ENST00000240055.3 - 5.0 467 c.240A>G c.(238-240)aaA>aaG p.K80K NFYB_ENST00000551727.1_Silent_p.K80K NM_006166.3 NP_006157.1 P25208 NFYB_HUMAN nuclear transcription factor Y, beta 80.0 B domain. cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 6.0 CTTTGGCATCTTTTGCAATCT 0.348 0 81.0 76.0 78.0 12 104517193.0 2202.0 4300.0 6502.0 SO:0001819 synonymous_variant CCDS9098.1 12q22-q23 2008-11-11 ENSG00000120837 4801.0 4801.0 7805.0 protein-coding gene gene with protein product 189904.0 1774067, 9612081 Standard NM_006166 Approved CBF-A, HAP3, NF-YB uc001tkl.1 P25208 OTTHUMG00000170176 ENST00000240055.3:c.240A>G 12.__UNKNOWN__:g.104517193T>C A8K7B9|Q96IY8 __UNKNOWN__ CCDS9098.1 NFYB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407786.1 - ENST00000240055.3 Silent SNP PCPG-TCGA-RT-A6YC-Normal-SM-5EQG1 SACM1L 22908 broad.mit.edu 37 3 45748365 45748365 + Missense_Mutation SNP A A G TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr3:45748365A>G ENST00000389061.5 + 4.0 503 c.299A>G c.(298-300)tAt>tGt p.Y100C SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000541314.1_Intron|SACM1L_ENST00000418611.1_5'UTR NM_014016.3 NP_054735.3 Q9NTJ5 SAC1_HUMAN SAC1 suppressor of actin mutations 1-like (yeast) 100.0 phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176) phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812) 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) 23.0 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) GTCCTTTCTTATAAGAAGACA 0.373 0 90.0 88.0 89.0 3 45748365.0 2203.0 4300.0 6503.0 SO:0001583 missense AB020658 CCDS33745.1 3p21.3 2010-03-11 ENSG00000211456 ENSG00000211456 22908.0 22908.0 17059.0 protein-coding gene gene with protein product 606569.0 10048485, 11352561 Standard NM_014016 NM_014016 Approved SAC1, KIAA0851 uc003cos.2 Q9NTJ5 OTTHUMG00000156653 ENST00000389061.5:c.299A>G 3.__UNKNOWN__:g.45748365A>G ENSP00000373713:p.Tyr100Cys A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57 __UNKNOWN__ CCDS33745.1 . . . . . . . . . . A 23.5 4.424864 0.83667 . . ENSG00000211456 ENST00000389061 T 0.56776 0.44 5.52 5.52 0.82312 Synaptojanin, N-terminal (1); 0.000000 0.85682 D 0.000000 T 0.60676 0.2287 L 0.33485 1.01 0.80722 D 1 D 0.89917 1.0 D 0.74674 0.984 T 0.55872 -0.8072 10 0.21540 T 0.41 -17.1008 15.6379 0.76970 1.0:0.0:0.0:0.0 . 100 Q9NTJ5 SAC1_HUMAN C 100 ENSP00000373713:Y100C ENSP00000373713:Y100C Y + 2 0 SACM1L 45723369 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 8.847000 0.92166 2.094000 0.63399 0.482000 0.46254 TAT SACM1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000345065.2 + ENST00000389061.5 Missense_Mutation SNP PCPG-TCGA-RT-A6YC-Normal-SM-5EQG1 AHR 196 broad.mit.edu 37 7 17382667 17382667 + Silent SNP G G A TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr7:17382667G>A ENST00000242057.4 + 11.0 3169 c.2526G>A c.(2524-2526)ttG>ttA p.L842L NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 842.0 LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857). {ECO:0000305}. apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33.0 Lung NSC(10;0.0392)|all_lung(11;0.0754) Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393) TTCCTGATTTGACATCCAGTG 0.368 0 219.0 206.0 210.0 7 17382667.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant L19872 CCDS5366.1 7p15 2013-05-21 ENSG00000106546 ENSG00000106546 196.0 196.0 """Basic helix-loop-helix proteins""" 348.0 protein-coding gene gene with protein product 600253.0 8125016 Standard NM_001621 NM_001621 Approved bHLHe76 uc011jxz.1 P35869 OTTHUMG00000149967 ENST00000242057.4:c.2526G>A 7.__UNKNOWN__:g.17382667G>A A4D130|Q13728|Q13803|Q13804 __UNKNOWN__ CCDS5366.1 AHR-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000314620.2 + ENST00000242057.4 Silent SNP PCPG-TCGA-RT-A6YC-Normal-SM-5EQG1 EVPL 2125 broad.mit.edu 37 17 74005061 74005061 + Missense_Mutation SNP C C T TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr17:74005061C>T ENST00000301607.3 - 22.0 4478 c.4225G>A c.(4225-4227)Gtg>Atg p.V1409M EVPL_ENST00000586740.1_Missense_Mutation_p.V1431M NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1409.0 Central fibrous rod domain. epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149) cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198) breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54.0 AGCTGCTGCACCTCAAGCTCT 0.701 0 C MET/VAL 1,4399 0,1,2199 37.0 43.0 41.0 4225 5.6 1.0 17 41.0 0,8590 0,0,4295 no missense EVPL NM_001988.2 21 0,1,6494 TT,TC,CC 0.0,0.0227,0.0077 probably-damaging 1409/2034 74005061.0 1,12989 2200.0 4295.0 6495.0 SO:0001583 missense U53786 CCDS11737.1 17q25 2008-07-18 ENSG00000167880 2125.0 2125.0 3503.0 protein-coding gene gene with protein product 601590.0 8938451, 10409435 Standard NM_001988 NM_001988 Approved EVPK uc002jqi.2 Q92817 ENST00000301607.3:c.4225G>A 17.__UNKNOWN__:g.74005061C>T ENSP00000301607:p.Val1409Met A0AUV5 __UNKNOWN__ CCDS11737.1 . . . . . . . . . . C 17.26 3.344919 0.61073 2.27E-4 0.0 ENSG00000167880 ENST00000301607 T 0.58940 0.3 5.55 5.55 0.83447 . 0.158034 0.41823 D 0.000814 T 0.75664 0.3880 M 0.74258 2.255 0.39335 D 0.965485 D;D 0.64830 0.994;0.981 D;P 0.63703 0.917;0.77 T 0.77427 -0.2592 10 0.52906 T 0.07 -42.6948 19.5008 0.95093 0.0:1.0:0.0:0.0 . 1431;1409 B7ZLH8;Q92817 .;EVPL_HUMAN M 1409 ENSP00000301607:V1409M ENSP00000301607:V1409M V - 1 0 EVPL 71516656 1.000000 0.71417 1.000000 0.80357 0.964000 0.63967 2.583000 0.46094 2.620000 0.88729 0.655000 0.94253 GTG EVPL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000449483.1 - ENST00000301607.3 Missense_Mutation SNP PCPG-TCGA-RT-A6YC-Normal-SM-5EQG1 MIR548A1 0 broad.mit.edu 37 6 18572094 18572094 + RNA SNP T T A TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr6:18572094T>A ENST00000385041.1 + 0.0 80 NR_030312.1 microRNA 548a-1 caattacttttgcaccaaACC 0.353 0 70.0 63.0 65.0 6 18572094.0 1568.0 3582.0 5150.0 6p22.3 2011-09-12 2008-12-18 ENSG00000207775 ENSG00000207775 693125.0 693125.0 """ncRNAs / Micro RNAs""" 32796.0 non-coding RNA RNA, micro MIRN548A1 Standard NR_030312 NR_030312 Approved hsa-mir-548a-1 uc021yme.1 ENST00000385041.1: 6.__UNKNOWN__:g.18572094T>A __UNKNOWN__ MIR548A1-201 KNOWN basic miRNA miRNA + ENST00000385041.1 RNA SNP PCPG-TCGA-RT-A6YC-Normal-SM-5EQG1 RP11-1055B8.7 0 broad.mit.edu 37 17 79418727 79418727 + Missense_Mutation SNP A A T TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr17:79418727A>T ENST00000307745.7 + 16.0 4010 c.4010A>T c.(4009-4011)cAg>cTg p.Q1337L TTCAACCTGCAGCACCTGGCC 0.662 0 30.0 34.0 33.0 17 79418727.0 2149.0 4250.0 6399.0 SO:0001583 missense ENST00000307745.7:c.4010A>T 17.__UNKNOWN__:g.79418727A>T ENSP00000303486:p.Gln1337Leu __UNKNOWN__ . . . . . . . . . . A 18.59 3.656688 0.67586 . . ENSG00000171282 ENST00000307745 T 0.24723 1.84 4.85 4.85 0.62838 . 0.000000 0.49305 D 0.000145 T 0.45856 0.1363 M 0.66939 2.045 0.53005 D 0.999968 D;D 0.67145 0.993;0.996 P;D 0.62955 0.813;0.909 T 0.46076 -0.9217 10 0.62326 D 0.03 . 13.5544 0.61751 1.0:0.0:0.0:0.0 . 1337;1337 Q9P281;F8WBW8 BAHC1_HUMAN;. L 1337 ENSP00000303486:Q1337L ENSP00000303486:Q1337L Q + 2 0 AC110285.1 77033322 1.000000 0.71417 1.000000 0.80357 0.979000 0.70002 2.194000 0.42668 2.037000 0.60232 0.459000 0.35465 CAG RP11-1055B8.7-201 KNOWN basic|appris_principal protein_coding protein_coding + ENST00000307745.7 Missense_Mutation SNP PCPG-TCGA-RT-A6YC-Normal-SM-5EQG1 MYT1 4661 broad.mit.edu 37 20 62854521 62854521 + Silent SNP C C T TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr20:62854521C>T ENST00000328439.1 + 15.0 2818 c.2454C>T c.(2452-2454)caC>caT p.H818H MYT1_ENST00000360149.4_Silent_p.H520H|MYT1_ENST00000536311.1_Silent_p.H845H NM_004535.2 NP_004526.1 Q99640 PMYT1_HUMAN myelin transcription factor 1 0.0 G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55.0 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) ACGCCTCCCACCGCAGGTTTG 0.612 GBM(59;481 1041 20555 21139 33705) 0 170.0 165.0 167.0 20 62854521.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant M96980 CCDS13558.1 20q13.33 2014-03-24 ENSG00000196132 ENSG00000196132 4661.0 4661.0 """Zinc fingers, C2HC-type containing""" 7622.0 protein-coding gene gene with protein product """neural zinc finger transcription factor 2""" 600379.0 PLPB1 1280325, 9268380 Standard NM_004535 NM_004535 Approved MTF1, MYTI, ZC2HC4A, NZF2 uc002yii.3 Q01538 OTTHUMG00000149988 ENST00000328439.1:c.2454C>T 20.__UNKNOWN__:g.62854521C>T B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9 __UNKNOWN__ CCDS13558.1 MYT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080297.1 + ENST00000328439.1 Silent SNP PCPG-TCGA-RT-A6YC-Normal-SM-5EQG1 HIST1H2AA 221613 broad.mit.edu 37 6 25726526 25726527 + Frame_Shift_Ins INS - - T TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr6:25726526_25726527insT ENST00000297012.3 - 1.0 263_264 c.229_230insA c.(229-231)actfs p.T77fs NM_170745.3 NP_734466.1 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 77.0 extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634) DNA binding (GO:0003677) breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13.0 AATAATGCGAGTTTTTTTGTTA 0.545 0 SO:0001589 frameshift_variant AY131982 CCDS4562.1 6p22.2 2011-01-27 2006-10-11 ENSG00000164508 ENSG00000164508 221613.0 221613.0 """Histones / Replication-dependent""" 18729.0 protein-coding gene gene with protein product 613499.0 """H2A histone family, member R"", ""histone 1, H2aa""" 12408966 Standard NM_170745 NM_170745 Approved bA317E16.2, H2AFR uc003nfc.3 Q96QV6 OTTHUMG00000014407 ENST00000297012.3:c.230dupA 6.__UNKNOWN__:g.25726533_25726533dupT ENSP00000297012:p.Thr77fs __UNKNOWN__ CCDS4562.1 HIST1H2AA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040065.1 - ENST00000297012.3 Frame_Shift_Ins INS PCPG-TCGA-RT-A6YC-Normal-SM-5EQG1 Unknown 0 bcgsc.ca 37 5 79647238 79647238 + RNA SNP A A G TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr5:79647238A>G SPZ1 (29577 upstream) : RNU6-211P (14306 downstream) GGTCTGGATAAGTGGATGGAC 0.463 0 SO:0001628 intergenic_variant 5.__UNKNOWN__:g.79647238A>G __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-RT-A6YC-Normal-SM-5EQG1 ITGA11 22801 ucsc.edu 37 15 68605143 68605143 + Missense_Mutation SNP C C T TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr15:68605143C>T ENST00000423218.2 - 24.0 3036 c.2941G>A c.(2941-2943)Ggt>Agt p.G981S ITGA11_ENST00000315757.7_Missense_Mutation_p.G981S Q9UKX5 ITA11_HUMAN integrin, alpha 11 981.0 cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929) focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886) collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872) 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) 52.0 GGCCCGATACCATCGTATCTC 0.637 0 73.0 76.0 75.0 15 68605143.0 2075.0 4223.0 6298.0 SO:0001583 missense AF109681 CCDS45291.1 15q22.3-q23 2010-03-23 ENSG00000137809 22801.0 22801.0 """Integrins""" 6136.0 protein-coding gene gene with protein product 604789 10486209 Standard NM_012211 NM_001004439 Approved HsT18964 uc002ari.3 Q9UKX5 ENST00000423218.2:c.2941G>A 15.__UNKNOWN__:g.68605143C>T ENSP00000403392:p.Gly981Ser J3KQM2|Q8WYI8|Q9UKQ1 __UNKNOWN__ . . . . . . . . . . C 6.583 0.475925 0.12521 . . ENSG00000137809 ENST00000315757;ENST00000423218;ENST00000535491 T;T 0.44482 0.92;0.92 4.97 3.94 0.45596 Integrin alpha-2 (1); 0.381500 0.30003 N 0.010645 T 0.20941 0.0504 N 0.11201 0.11 0.21184 N 0.999763 B;B 0.14805 0.011;0.005 B;B 0.24269 0.052;0.012 T 0.13045 -1.0524 10 0.18710 T 0.47 . 7.0016 0.24813 0.0:0.8065:0.0:0.1935 . 981;981 A8K8T0;Q9UKX5 .;ITA11_HUMAN S 981;981;616 ENSP00000327290:G981S;ENSP00000403392:G981S ENSP00000327290:G981S G - 1 0 ITGA11 66392197 0.565000 0.26610 0.233000 0.24025 0.147000 0.21601 1.544000 0.36158 2.307000 0.77673 0.561000 0.74099 GGT ITGA11-001 NOVEL basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000419730.1 - ENST00000423218.2 Missense_Mutation SNP PCPG-TCGA-RT-A6YC-Normal-SM-5EQG1 ADAMTS18 170692 hgsc.bcm.edu 37 16 77401346 77401346 + Missense_Mutation SNP C C T TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 C C . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr16:77401346C>T ENST00000282849.5 - 4.0 1188 c.770G>A c.(769-771)cGc>cAc p.R257H NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 257.0 eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331) proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) 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) 118.0 ACATTTCTTGCGTCGTCCACA 0.443 0 77.0 76.0 76.0 16 77401346.0 2198.0 4300.0 6498.0 SO:0001583 missense AJ311903 CCDS10926.1 16q23 2008-07-29 2005-08-19 ENSG00000140873 ENSG00000140873 170692.0 170692.0 """ADAM metallopeptidases with thrombospondin type 1 motif""" 17110.0 protein-coding gene gene with protein product 607512 """a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18""" ADAMTS21 11867212, 17546048 Standard NM_199355 Approved uc002ffc.4 Q8TE60 OTTHUMG00000137619 ENST00000282849.5:c.770G>A 16.__UNKNOWN__:g.77401346C>T ENSP00000282849:p.Arg257His Q6P4R5|Q6ZWJ9 __UNKNOWN__ CCDS10926.1 . . . . . . . . . . C 32 5.175432 0.94807 . . ENSG00000140873 ENST00000282849;ENST00000449265 T;T 0.61392 0.11;2.09 4.99 4.99 0.66335 . 0.000000 0.85682 D 0.000000 T 0.76608 0.4011 M 0.78049 2.395 0.58432 D 0.999999 D 0.89917 1.0 D 0.79784 0.993 T 0.78242 -0.2280 10 0.52906 T 0.07 . 17.4456 0.87577 0.0:1.0:0.0:0.0 . 257 Q8TE60 ATS18_HUMAN H 257 ENSP00000282849:R257H;ENSP00000392540:R257H ENSP00000282849:R257H R - 2 0 ADAMTS18 75958847 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.447000 0.66606 2.603000 0.88011 0.555000 0.69702 CGC ADAMTS18-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269037.1 - ENST00000282849.5 Missense_Mutation SNP PCPG-TCGA-RT-A6YC-Normal-SM-5EQG1 TTN 7273 hgsc.bcm.edu 37 2 179401150 179401150 + Missense_Mutation SNP C C A TCGA-RT-A6YC-01A-12D-A35D-08 TCGA-RT-A6YC-10B-01D-A35B-08 C C . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 583d10a7-9d12-45d1-861b-5c2231935b2e 7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19 g.chr2:179401150C>A ENST00000589042.1 - 357.0 100548 c.100324G>T c.(100324-100326)Gtg>Ttg p.V33442L TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30874L|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V24502L|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V24569L|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V24377L|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V31801L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31801.0 adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) 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) 1448.0 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTGTTGTCACAGAAATCCAT 0.408 0 78.0 75.0 76.0 2 179401150.0 1872.0 4113.0 5985.0 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273.0 7273.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403.0 protein-coding gene gene with protein product 188840 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_133378 NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.100324G>T 2.__UNKNOWN__:g.179401150C>A ENSP00000467141:p.Val33442Leu A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 __UNKNOWN__ CCDS59435.1 . . . . . . . . . . C 17.46 3.395041 0.62066 . . ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.56611 0.45;0.45;0.45;0.45 5.76 5.76 0.90799 Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.68970 0.3059 L 0.46670 1.46 0.80722 D 1 D;D;D;D 0.69078 0.997;0.997;0.997;0.997 D;D;D;D 0.80764 0.994;0.994;0.994;0.994 T 0.69829 -0.5039 9 0.87932 D 0 . 19.9595 0.97236 0.0:1.0:0.0:0.0 . 24377;24502;24569;31801 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN L 30874;24377;24569;24502;24374 ENSP00000343764:V30874L;ENSP00000434586:V24377L;ENSP00000340554:V24569L;ENSP00000352154:V24502L ENSP00000340554:V24569L V - 1 0 TTN 179109396 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.818000 0.86416 2.706000 0.92434 0.563000 0.77884 GTG TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 - ENST00000589042.1 Missense_Mutation SNP PCPG-TCGA-RT-A6YC-Normal-SM-5EQG1 PUM2 23369 broad.mit.edu 37 2 20463176 20463176 + Missense_Mutation SNP C C T TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr2:20463176C>T ENST00000338086.5 - 13.0 2025 c.2003G>A c.(2002-2004)gGa>gAa p.G668E PUM2_ENST00000319801.5_Missense_Mutation_p.G589E|PUM2_ENST00000536417.1_Missense_Mutation_p.G612E|PUM2_ENST00000361078.2_Missense_Mutation_p.G668E|PUM2_ENST00000403432.1_Missense_Mutation_p.G668E NM_001282752.1|NM_015317.1 NP_001269681.1|NP_056132.1 Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 668.0 Ser-rich. regulation of translation (GO:0006417)|stress granule assembly (GO:0034063) cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471) poly(A) RNA binding (GO:0044822) breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42.0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCTTCTGCTCCAGGTGCTGC 0.443 0 76.0 74.0 75.0 2 20463176.0 2203.0 4300.0 6503.0 SO:0001583 missense AF315591 CCDS1698.1, CCDS74486.1, CCDS74487.1 2p22-p21 2013-09-02 2013-09-02 ENSG00000055917 ENSG00000055917 23369.0 23369.0 14958.0 protein-coding gene gene with protein product 607205.0 """pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)""" 9039502, 12459267, 12511597 Standard NM_015317 XM_005262607 Approved PUMH2, KIAA0235 uc002rds.1 Q8TB72 OTTHUMG00000122098 ENST00000338086.5:c.2003G>A 2.__UNKNOWN__:g.20463176C>T ENSP00000338173:p.Gly668Glu B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2 __UNKNOWN__ CCDS1698.1 . . . . . . . . . . C 29.7 5.028180 0.93518 . . ENSG00000055917 ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417 T;T;T;T;T;T 0.21361 2.01;2.3;2.32;2.08;2.01;2.01 5.47 5.47 0.80525 . 0.000000 0.85682 D 0.000000 T 0.47930 0.1472 M 0.65975 2.015 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 1.0;1.0;1.0;0.998 T 0.43065 -0.9414 10 0.62326 D 0.03 -9.4864 19.325 0.94258 0.0:1.0:0.0:0.0 . 612;589;668;668 B4E2B6;B7ZL34;Q8TB72-3;Q8TB72 .;.;.;PUM2_HUMAN E 668;668;589;480;668;612 ENSP00000338173:G668E;ENSP00000354370:G668E;ENSP00000326746:G589E;ENSP00000409905:G480E;ENSP00000385992:G668E;ENSP00000440093:G612E ENSP00000326746:G589E G - 2 0 PUM2 20326657 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.818000 0.86416 2.572000 0.86782 0.655000 0.94253 GGA PUM2-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000242862.1 - ENST00000338086.5 Missense_Mutation SNP PCPG-TCGA-RW-A67V-Normal-SM-5EQFH PADI1 29943 broad.mit.edu 37 1 17548858 17548858 + Missense_Mutation SNP C C T rs142259163 TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr1:17548858C>T ENST00000375471.4 + 2.0 258 c.166C>T c.(166-168)Cgc>Tgc p.R56C NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 56.0 protein citrullination (GO:0018101) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) p.R56C(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28.0 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GGTCTACAACCGCACACGTGT 0.552 Esophageal Squamous(80;414 1257 4580 27746 50832) 1 Substitution - Missense(1) prostate(1) CYS/ARG 1,4405 2.1+/-5.4 0,1,2202 130.0 120.0 123.0 166 1.9 0.0 1 dbSNP_134 123.0 1,8599 1.2+/-3.3 0,1,4299 no missense PADI1 NM_013358.2 180 0,2,6501 TT,TC,CC 0.0116,0.0227,0.0154 possibly-damaging 56/664 17548858.0 2,13004 2203.0 4300.0 6503.0 SO:0001583 missense AB033768 CCDS178.1 1p36.13 2008-07-18 ENSG00000142623 ENSG00000142623 29943.0 29943.0 3.5.3.15 """Peptidyl arginine deiminases""" 18367.0 protein-coding gene gene with protein product """peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10""" 607934.0 12416996 Standard NM_013358 NM_013358 Approved HPAD10, PDI1, PDI, PAD1 uc001bah.1 Q9ULC6 OTTHUMG00000002294 ENST00000375471.4:c.166C>T 1.__UNKNOWN__:g.17548858C>T ENSP00000364620:p.Arg56Cys A1L4K6|Q70SX6 __UNKNOWN__ CCDS178.1 . . . . . . . . . . c 3.633 -0.075107 0.07184 2.27E-4 1.16E-4 ENSG00000142623 ENST00000375471 T 0.08282 3.11 3.87 1.94 0.25998 Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1); 0.179400 0.36665 U 0.002463 T 0.05547 0.0146 N 0.19112 0.55 0.09310 N 0.999999 P 0.52316 0.952 B 0.43783 0.431 T 0.35425 -0.9789 10 0.36615 T 0.2 -4.1982 7.0036 0.24823 0.1981:0.6104:0.1915:0.0 . 56 Q9ULC6 PADI1_HUMAN C 56 ENSP00000364620:R56C ENSP00000364620:R56C R + 1 0 PADI1 17421445 0.008000 0.16893 0.001000 0.08648 0.059000 0.15707 0.129000 0.15830 0.242000 0.21303 -0.828000 0.03084 CGC PADI1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000006621.1 + ENST00000375471.4 Missense_Mutation SNP PCPG-TCGA-RW-A67V-Normal-SM-5EQFH SHISA2 387914 broad.mit.edu 37 13 26621012 26621012 + Missense_Mutation SNP G G A TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr13:26621012G>A ENST00000319420.3 - 2.0 582 c.527C>T c.(526-528)tCg>tTg p.S176L NM_001007538.1 NP_001007539.1 Q6UWI4 SHSA2_HUMAN shisa family member 2 176.0 multicellular organismal development (GO:0007275) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 17.0 GCGTGAGGACGACCCCCGGGA 0.667 0 47.0 53.0 51.0 13 26621012.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS31951.1 13q12.13 2013-07-31 2013-07-31 2008-04-01 ENSG00000180730 ENSG00000180730 387914.0 387914.0 """Shisa homologs""" 20366.0 protein-coding gene gene with protein product """chromosome 13 open reading frame 13"", ""transmembrane protein 46"", ""shisa homolog 2 (Xenopus laevis)""" C13orf13, TMEM46 Standard NM_001007538 NM_001007538 Approved bA398O19.2, PRO28631, WGAR9166, hShisa uc001uqm.1 Q6UWI4 OTTHUMG00000016612 ENST00000319420.3:c.527C>T 13.__UNKNOWN__:g.26621012G>A ENSP00000313079:p.Ser176Leu B9EH70|Q5W0G8 __UNKNOWN__ CCDS31951.1 . . . . . . . . . . G 22.0 4.228840 0.79576 . . ENSG00000180730 ENST00000319420 T 0.42900 0.96 4.96 4.96 0.65561 . 0.000000 0.85682 D 0.000000 T 0.57562 0.2062 L 0.53249 1.67 0.80722 D 1 D 0.89917 1.0 D 0.72075 0.976 T 0.50767 -0.8789 10 0.12103 T 0.63 -22.2546 18.2478 0.89992 0.0:0.0:1.0:0.0 . 176 Q6UWI4 SHSA2_HUMAN L 176 ENSP00000313079:S176L ENSP00000313079:S176L S - 2 0 SHISA2 25519012 1.000000 0.71417 0.034000 0.17996 0.440000 0.31957 9.800000 0.99124 2.304000 0.77564 0.650000 0.86243 TCG SHISA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044239.2 - ENST00000319420.3 Missense_Mutation SNP PCPG-TCGA-RW-A67V-Normal-SM-5EQFH COL4A6 1288 broad.mit.edu 37 X 107413898 107413898 + Missense_Mutation SNP G G A TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chrX:107413898G>A ENST00000334504.7 - 35.0 3667 c.3434C>T c.(3433-3435)tCt>tTt p.S1145F COL4A6_ENST00000545689.1_Missense_Mutation_p.S1145F|COL4A6_ENST00000394872.2_Missense_Mutation_p.S1146F|COL4A6_ENST00000538570.1_Missense_Mutation_p.S1145F|COL4A6_ENST00000372216.4_Missense_Mutation_p.S1146F NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 1146.0 Triple-helical region. cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198) collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576) extracellular matrix structural constituent (GO:0005201) 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) 92.0 GTGACCAGAAGAACCTGGAAG 0.512 Alport syndrome with Diffuse Leiomyomatosis Melanoma(87;1895 1945 2589 7165) 0 155.0 160.0 159.0 X 107413898.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database U04845 CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1 Xq22 2014-09-17 ENSG00000197565 ENSG00000197565 1288.0 1288.0 """Collagens""" 2208.0 protein-coding gene gene with protein product 303631.0 8356449 Standard NM_033641 Approved uc004env.4 Q14031 OTTHUMG00000022179 ENST00000334504.7:c.3434C>T X.__UNKNOWN__:g.107413898G>A ENSP00000334733:p.Ser1145Phe Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4 __UNKNOWN__ CCDS14542.1 . . . . . . . . . . G 0.502 -0.870389 0.02570 . . ENSG00000197565 ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570 D;D;D;D;D 0.94457 -3.43;-3.43;-3.43;-3.3;-3.43 5.08 4.17 0.49024 . 0.357320 0.20698 N 0.087327 D 0.89097 0.6618 L 0.43152 1.355 0.09310 N 0.999996 B;B;B;B 0.25272 0.1;0.003;0.122;0.1 B;B;B;B 0.22386 0.023;0.004;0.039;0.023 T 0.74569 -0.3622 10 0.10111 T 0.7 . 8.189 0.31357 0.2001:0.0:0.7999:0.0 . 1145;1145;1146;1145 F5H851;F5H3Q5;Q14031;Q14031-2 .;.;CO4A6_HUMAN;. F 1146;1145;1146;1145;1145;1145 ENSP00000361290:S1146F;ENSP00000334733:S1145F;ENSP00000378340:S1146F;ENSP00000443707:S1145F;ENSP00000445236:S1145F ENSP00000334733:S1145F S - 2 0 COL4A6 107300554 0.799000 0.28903 0.696000 0.30242 0.010000 0.07245 1.429000 0.34903 1.147000 0.42369 0.600000 0.82982 TCT COL4A6-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057876.2 - ENST00000334504.7 Missense_Mutation SNP PCPG-TCGA-RW-A67V-Normal-SM-5EQFH TTN 7273 broad.mit.edu 37 2 179430601 179430601 + Missense_Mutation SNP T T C TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr2:179430601T>C ENST00000589042.1 - 326.0 80482 c.80258A>G c.(80257-80259)tAt>tGt p.Y26753C TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y24185C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y17813C|TTN_ENST00000460472.2_Missense_Mutation_p.Y17688C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y17880C|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y25112C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25112.0 Ig-like 128. adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) 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) 1448.0 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTGAAGTAATAAATGGCTCC 0.418 0 171.0 163.0 165.0 2 179430601.0 1919.0 4119.0 6038.0 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273.0 7273.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403.0 protein-coding gene gene with protein product 188840.0 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_133378 NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.80258A>G 2.__UNKNOWN__:g.179430601T>C ENSP00000467141:p.Tyr26753Cys A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 __UNKNOWN__ CCDS59435.1 . . . . . . . . . . T 10.29 1.310408 0.23821 . . ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 D;D;D;D 0.89343 -2.5;-2.5;-2.5;-2.5 5.81 5.81 0.92471 Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . D 0.97244 0.9099 H 0.99425 4.56 0.58432 D 0.999998 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.85130 0.995;0.995;0.995;0.997 D 0.99136 1.0854 9 0.87932 D 0 . 16.1538 0.81644 0.0:0.0:0.0:1.0 . 17688;17813;17880;25112 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN C 24185;17688;17880;17813;17686 ENSP00000343764:Y24185C;ENSP00000434586:Y17688C;ENSP00000340554:Y17880C;ENSP00000352154:Y17813C ENSP00000340554:Y17880C Y - 2 0 TTN 179138847 1.000000 0.71417 0.999000 0.59377 0.977000 0.68977 5.011000 0.64011 2.221000 0.72209 0.454000 0.30748 TAT TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 - ENST00000589042.1 Missense_Mutation SNP PCPG-TCGA-RW-A67V-Normal-SM-5EQFH RPS12 6206 broad.mit.edu 37 6 133138155 133138155 + Silent SNP G G A rs1052683 TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr6:133138155G>A ENST00000230050.3 + 5.0 501 c.291G>A c.(289-291)gaG>gaA p.E97E NM_001016.3 NP_001007.2 P25398 RS12_HUMAN ribosomal protein S12 97.0 cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) endometrium(1)|kidney(13)|lung(3)|urinary_tract(1) 18.0 Breast(56;0.214) OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256) TTGACAGAGAGGGGAAACCCC 0.373 0 63.0 61.0 62.0 6 133138155.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X53505 CCDS5164.1 6q23 2011-04-05 ENSG00000112306 ENSG00000112306 6206.0 6206.0 """S ribosomal proteins""" 10385.0 protein-coding gene gene with protein product 603660.0 1861993, 9582194 Standard NM_001016 NM_001016 Approved S12 uc003qdx.3 P25398 OTTHUMG00000015593 ENST00000230050.3:c.291G>A 6.__UNKNOWN__:g.133138155G>A Q76M58 __UNKNOWN__ CCDS5164.1 RPS12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042270.2 + ENST00000230050.3 Silent SNP PCPG-TCGA-RW-A67V-Normal-SM-5EQFH SZT2 23334 broad.mit.edu 37 1 43905438 43905438 + Nonsense_Mutation SNP C C G TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr1:43905438C>G ENST00000562955.1 + 49.0 6869 c.6869C>G c.(6868-6870)tCa>tGa p.S2290* SZT2_ENST00000372442.1_Nonsense_Mutation_p.S1448* NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2347.0 central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668) extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777) 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) 113.0 GACAGTTCTTCAGGTGGGACA 0.587 0 52.0 55.0 54.0 1 43905438.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AB007936 CCDS30694.1, CCDS30694.2 1p34.2 2012-11-19 2011-06-10 2011-06-10 ENSG00000198198 ENSG00000198198 23334.0 23334.0 29040.0 protein-coding gene gene with protein product """seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)""" 615463.0 """chromosome 1 open reading frame 84"", ""KIAA0467""" C1orf84, KIAA0467 9455484 Standard NM_015284 NM_015284 Approved FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A uc001cjk.3 Q5T011 OTTHUMG00000007423 ENST00000562955.1:c.6869C>G 1.__UNKNOWN__:g.43905438C>G ENSP00000457168:p.Ser2290* A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8 __UNKNOWN__ CCDS30694.2 . . . . . . . . . . C 46 12.251911 0.99650 . . ENSG00000198198 ENST00000372442 . . . 5.84 4.92 0.64577 . 1.069310 0.07227 N 0.861900 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.30078 T 0.28 . 14.8996 0.70670 0.1429:0.8571:0.0:0.0 . . . . X 1448 . ENSP00000361519:S1448X S + 2 0 SZT2 43678025 0.759000 0.28416 0.981000 0.43875 0.865000 0.49528 2.143000 0.42187 1.445000 0.47624 0.655000 0.94253 TCA SZT2-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000019517.3 + ENST00000562955.1 Nonsense_Mutation SNP PCPG-TCGA-RW-A67V-Normal-SM-5EQFH KIAA0556 23247 broad.mit.edu 37 16 27752044 27752044 + Missense_Mutation SNP G G A TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr16:27752044G>A ENST00000261588.4 + 15.0 2445 c.2426G>A c.(2425-2427)cGg>cAg p.R809Q NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 809.0 extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76.0 AAAGGCCTACGGCATGAGCCA 0.597 0 45.0 49.0 48.0 16 27752044.0 2197.0 4300.0 6497.0 SO:0001583 missense AB011128 CCDS32415.1 16p12.1-p11.2 2012-11-30 ENSG00000047578 ENSG00000047578 23247.0 23247.0 29068.0 protein-coding gene gene with protein product 9628581 Standard NM_015202 NM_015202 Approved uc002dow.3 O60303 OTTHUMG00000176780 ENST00000261588.4:c.2426G>A 16.__UNKNOWN__:g.27752044G>A ENSP00000261588:p.Arg809Gln A7E2C2 __UNKNOWN__ CCDS32415.1 . . . . . . . . . . G 10.22 1.289242 0.23478 . . ENSG00000047578 ENST00000261588 T 0.10382 2.88 4.94 -0.837 0.10766 . 0.539605 0.19894 N 0.103678 T 0.09069 0.0224 M 0.62723 1.935 0.09310 N 1 B 0.13145 0.007 B 0.10450 0.005 T 0.27262 -1.0079 10 0.30078 T 0.28 -11.7257 3.5363 0.07795 0.3479:0.0:0.3806:0.2715 . 809 O60303 K0556_HUMAN Q 809 ENSP00000261588:R809Q ENSP00000261588:R809Q R + 2 0 KIAA0556 27659545 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 0.304000 0.19228 -0.124000 0.11724 -1.683000 0.00735 CGG KIAA0556-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000433724.1 + ENST00000261588.4 Missense_Mutation SNP PCPG-TCGA-RW-A67V-Normal-SM-5EQFH ADO 84890 broad.mit.edu 37 10 64565028 64565028 + Missense_Mutation SNP C C T TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr10:64565028C>T ENST00000373783.1 + 1.0 513 c.209C>T c.(208-210)cCg>cTg p.P70L RP11-436D10.3_ENST00000425290.1_RNA NM_032804.5 NP_116193.2 Q96SZ5 AEDO_HUMAN 2-aminoethanethiol (cysteamine) dioxygenase 70.0 mitochondrion (GO:0005739) cysteamine dioxygenase activity (GO:0047800)|metal ion binding (GO:0046872) lung(2) 2.0 Prostate(12;0.0297)|all_hematologic(501;0.228) AACATCGCCCCGCGCAAGGCC 0.672 0 19.0 17.0 17.0 10 64565028.0 2178.0 4261.0 6439.0 SO:0001583 missense BC028589 CCDS7266.2 10q21.3 2007-08-28 2007-08-28 2007-08-28 ENSG00000181915 ENSG00000181915 84890.0 84890.0 1.13.11.19 23506.0 protein-coding gene gene with protein product """cysteamine dioxygenase""" 611392.0 """chromosome 10 open reading frame 22""" C10orf22 17581819 Standard NM_032804 NM_032804 Approved FLJ14547 uc001jmg.3 Q96SZ5 OTTHUMG00000018306 ENST00000373783.1:c.209C>T 10.__UNKNOWN__:g.64565028C>T ENSP00000362888:p.Pro70Leu B1AL29 __UNKNOWN__ CCDS7266.2 . . . . . . . . . . c 22.7 4.325295 0.81580 . . ENSG00000181915 ENST00000373783 T 0.48201 0.82 4.99 3.12 0.35913 Cupin, RmlC-type (1); 0.311519 0.29876 U 0.010964 T 0.51346 0.1669 M 0.81112 2.525 0.58432 D 0.999999 D 0.60575 0.988 P 0.47206 0.541 T 0.50701 -0.8797 10 0.37606 T 0.19 . 8.0649 0.30654 0.0:0.7527:0.1602:0.0871 . 70 Q96SZ5 AEDO_HUMAN L 70 ENSP00000362888:P70L ENSP00000362888:P70L P + 2 0 ADO 64235034 0.990000 0.36364 0.989000 0.46669 0.985000 0.73830 2.893000 0.48633 0.605000 0.29947 0.651000 0.88453 CCG ADO-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048243.2 + ENST00000373783.1 Missense_Mutation SNP PCPG-TCGA-RW-A67V-Normal-SM-5EQFH SPDYA 245711 broad.mit.edu 37 2 29072796 29072796 + Missense_Mutation SNP A A C TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr2:29072796A>C ENST00000334056.5 + 8.0 1120 c.931A>C c.(931-933)Agt>Cgt p.S311R TRMT61B_ENST00000306108.5_3'UTR|SPDYA_ENST00000379579.4_Missense_Mutation_p.S311R NM_182756.3 NP_877433.2 speedy/RINGO cell cycle regulator family member A cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9.0 Acute lymphoblastic leukemia(172;0.155) GTTTACAGGAAGTGAAGAATG 0.323 0 50.0 54.0 53.0 2 29072796.0 2203.0 4298.0 6501.0 SO:0001583 missense AA424209 CCDS1767.2 2p23 2013-05-08 2013-05-08 2006-03-31 ENSG00000163806 ENSG00000163806 245711.0 245711.0 """Speedy homologs""" 30613.0 protein-coding gene gene with protein product 614029.0 """speedy homolog 1 (Drosophila)"", ""speedy homolog A (Xenopus laevis)""" SPDY1 11980914, 12839962, 15611625 Standard NM_182756 NM_182756 Approved SPY1, Ringo3 uc002rmk.3 Q5MJ70 OTTHUMG00000074041 ENST00000334056.5:c.931A>C 2.__UNKNOWN__:g.29072796A>C ENSP00000335628:p.Ser311Arg __UNKNOWN__ CCDS1767.2 . . . . . . . . . . A 16.16 3.045847 0.55110 . . ENSG00000163806 ENST00000379579;ENST00000334056 . . . 5.87 5.87 0.94306 . 0.406008 0.16932 U 0.193603 T 0.50973 0.1647 L 0.44542 1.39 0.80722 D 1 P 0.39216 0.664 B 0.33690 0.168 T 0.54397 -0.8300 9 0.51188 T 0.08 2.0304 16.5764 0.84681 1.0:0.0:0.0:0.0 . 311 Q5MJ70 SPDYA_HUMAN R 311 . ENSP00000335628:S311R S + 1 0 SPDYA 28926300 1.000000 0.71417 1.000000 0.80357 0.896000 0.52359 4.419000 0.59835 2.371000 0.80710 0.533000 0.62120 AGT SPDYA-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000157171.1 + ENST00000334056.5 Missense_Mutation SNP PCPG-TCGA-RW-A67V-Normal-SM-5EQFH C12orf45 121053 broad.mit.edu 37 12 105385571 105385571 + Missense_Mutation SNP C C G TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr12:105385571C>G ENST00000280749.5 + 3.0 216 C12orf45_ENST00000552951.1_Missense_Mutation_p.P95R Q8N5I9 CL045_HUMAN chromosome 12 open reading frame 45 large_intestine(1)|lung(2) 3.0 GCTGCACCACCTGGTCGTTTC 0.403 0 87.0 84.0 85.0 12 105385571.0 1869.0 4097.0 5966.0 SO:0001627 intron_variant BC032326 CCDS41825.1 12q23.3 2012-05-30 ENSG00000151131 ENSG00000151131 121053.0 121053.0 28628.0 protein-coding gene gene with protein product 12477932 Standard NM_152318 NM_152318 Approved MGC40397 uc001tlb.3 Q8N5I9 OTTHUMG00000169822 ENST00000280749.5:c.202-2685C>G 12.__UNKNOWN__:g.105385571C>G __UNKNOWN__ . . . . . . . . . . C 11.71 1.719397 0.30503 . . ENSG00000151131 ENST00000552951 T 0.35421 1.31 4.86 3.96 0.45880 . 0.240666 0.40469 N 0.001087 T 0.50633 0.1627 M 0.73962 2.25 0.23598 N 0.997325 D 0.67145 0.996 D 0.64410 0.925 T 0.39502 -0.9611 10 0.28530 T 0.3 -12.5255 6.1849 0.20491 0.1874:0.7182:0.0:0.0944 . 95 Q8N5I9 CL045_HUMAN R 95 ENSP00000447057:P95R ENSP00000447057:P95R P + 2 0 C12orf45 103909701 0.931000 0.31567 0.997000 0.53966 0.016000 0.09150 2.197000 0.42696 1.037000 0.40024 -0.282000 0.10007 CCT C12orf45-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000406077.1 + ENST00000280749.5 Intron SNP PCPG-TCGA-RW-A67V-Normal-SM-5EQFH C17orf66 256957 broad.mit.edu 37 17 34182738 34182738 + Missense_Mutation SNP C C T rs115744817 byFrequency TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr17:34182738C>T ENST00000311880.2 - 14.0 1443 c.1295G>A c.(1294-1296)cGc>cAc p.R432H C17orf66_ENST00000592980.1_Missense_Mutation_p.R392H NM_152781.2 NP_689994.2 A2RTY3 HEAT9_HUMAN 432.0 hematopoietic progenitor cell differentiation (GO:0002244) 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) 38.0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TTGTGGACTGCGGATCCCCAG 0.532 C 4.0 0.0018 0.01 2184.0 0.0017 0.9999 , , 0.0004 0.0019 0.9655 LOWCOV,EXOME 0.0007 SNP 0 C HIS/ARG 10,4396 16.8+/-37.8 0,10,2193 100.0 94.0 96.0 1295 3.3 1.0 17 dbSNP_132 96.0 0,8600 0,0,4300 yes missense C17orf66 NM_152781.2 29 0,10,6493 TT,TC,CC 0.0,0.227,0.0769 probably-damaging 432/571 34182738.0 10,12996 2203.0 4300.0 6503.0 SO:0001583 missense ENST00000311880.2:c.1295G>A 17.__UNKNOWN__:g.34182738C>T ENSP00000309560:p.Arg432His B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46 __UNKNOWN__ CCDS11299.1 4 0.0018315018315018315 3 0.006097560975609756 0 0.0 1 0.0017482517482517483 0 0.0 C 18.44 3.623786 0.66901 0.00227 0.0 ENSG00000172653 ENST00000311880 T 0.48201 0.82 4.29 3.31 0.37934 Armadillo-like helical (1);Armadillo-type fold (1); 0.000000 0.44285 D 0.000468 T 0.24586 0.0596 L 0.32530 0.975 0.80722 D 1 P;P 0.38729 0.591;0.644 B;B 0.35353 0.127;0.201 T 0.05084 -1.0907 10 0.42905 T 0.14 . 7.9068 0.29767 0.0:0.8858:0.0:0.1142 . 392;432 A2RTY3-3;A2RTY3 .;CQ066_HUMAN H 432 ENSP00000309560:R432H ENSP00000309560:R432H R - 2 0 C17orf66 31206851 0.955000 0.32602 0.994000 0.49952 0.957000 0.61999 1.954000 0.40362 1.012000 0.39366 0.563000 0.77884 CGC C17orf66-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256487.1 - ENST00000311880.2 Missense_Mutation SNP PCPG-TCGA-RW-A67V-Normal-SM-5EQFH WDR20 91833 broad.mit.edu 37 14 102675248 102675248 + Missense_Mutation SNP C C G TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr14:102675248C>G ENST00000342702.3 + 3.0 772 c.741C>G c.(739-741)ttC>ttG p.F247L WDR20_ENST00000424963.2_Missense_Mutation_p.F123L|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Missense_Mutation_p.F186L|WDR20_ENST00000556511.2_Missense_Mutation_p.F186L|WDR20_ENST00000454394.2_Missense_Mutation_p.F278L|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000335263.5_Missense_Mutation_p.F247L|WDR20_ENST00000545563.1_Missense_Mutation_p.F74L|WDR20_ENST00000499851.2_5'UTR NM_001242418.1|NM_144574.3 NP_001229347.1|NP_653175.2 Q8TBZ3 WDR20_HUMAN WD repeat domain 20 247.0 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8.0 TGCGGGTGTTCAACTTTGACT 0.567 0 79.0 70.0 73.0 14 102675248.0 2203.0 4300.0 6503.0 SO:0001583 missense BC028387 CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1 14q32.31 2013-01-09 ENSG00000140153 91833.0 91833.0 """WD repeat domain containing""" 19667.0 protein-coding gene gene with protein product Standard NM_181291 NM_181291 Approved DMR, MGC33177, FLJ33659 uc010txu.2 Q8TBZ3 ENST00000342702.3:c.741C>G 14.__UNKNOWN__:g.102675248C>G ENSP00000341037:p.Phe247Leu B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86 __UNKNOWN__ CCDS9969.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 13.15|13.15 2.152404|2.152404 0.38021|0.38021 .|. .|. ENSG00000140153|ENSG00000140153 ENST00000335263;ENST00000299135;ENST00000424963;ENST00000342702;ENST00000556807;ENST00000454394;ENST00000401892;ENST00000545563|ENST00000556511 T;T;T;T;T;T|. 0.61392|. 0.11;0.11;0.11;0.11;0.11;0.11|. 5.83|5.83 1.71|1.71 0.24356|0.24356 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.42245|0.42245 0.1194|0.1194 L|L 0.37630|0.37630 1.12|1.12 0.80722|0.80722 D|D 1|1 P;P;P;D;D;D;P|. 0.59357|. 0.484;0.673;0.891;0.964;0.957;0.985;0.828|. B;B;P;P;P;D;P|. 0.72338|. 0.381;0.3;0.487;0.699;0.723;0.977;0.654|. T|T 0.17440|0.17440 -1.0369|-1.0369 10|5 0.41790|. T|. 0.15|. .|. 4.2475|4.2475 0.10679|0.10679 0.1624:0.4878:0.0:0.3498|0.1624:0.4878:0.0:0.3498 .|. 278;259;186;247;186;123;247|. E7EUY8;Q5JPH5;G3V2F8;Q8TBZ3-2;F8W9S4;B3KR43;Q8TBZ3|. .;.;.;.;.;.;WDR20_HUMAN|. L|E 247;186;123;247;186;278;177;74|178 ENSP00000335434:F247L;ENSP00000395793:F123L;ENSP00000341037:F247L;ENSP00000450636:F186L;ENSP00000406084:F278L;ENSP00000437927:F74L|. ENSP00000299135:F186L|. F|Q +|+ 3|1 2|0 WDR20|WDR20 101745001|101745001 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.997000|0.997000 0.91878|0.91878 1.505000|1.505000 0.35736|0.35736 0.783000|0.783000 0.33636|0.33636 0.655000|0.655000 0.94253|0.94253 TTC|CAA WDR20-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000414963.1 + ENST00000342702.3 Missense_Mutation SNP PCPG-TCGA-RW-A67V-Normal-SM-5EQFH RAB11B 9230 broad.mit.edu 37 19 8464766 8464766 + Silent SNP A A G TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr19:8464766A>G ENST00000328024.6 + 2.0 278 c.60A>G c.(58-60)tcA>tcG p.S20S RAB11B_ENST00000594216.1_Silent_p.S20S|RAB11B_ENST00000601897.1_Intron NM_004218.3 NP_004209.2 Q15907 RB11B_HUMAN RAB11B, member RAS oncogene family 20.0 cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572) cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489) large_intestine(2)|lung(1)|ovary(1) 4.0 TCGGGGACTCAGGCGTGGGCA 0.647 0 61.0 54.0 56.0 19 8464766.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X79780 CCDS12201.1 19p13.2 2012-07-02 ENSG00000185236 ENSG00000185236 9230.0 9230.0 """RAB, member RAS oncogene""" 9761.0 protein-coding gene gene with protein product 604198.0 7811277 Standard NM_004218 NM_004218 Approved H-YPT3 uc002mju.4 Q15907 ENST00000328024.6:c.60A>G 19.__UNKNOWN__:g.8464766A>G A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07 __UNKNOWN__ CCDS12201.1 RAB11B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000460343.2 + ENST00000328024.6 Silent SNP PCPG-TCGA-RW-A67V-Normal-SM-5EQFH AIFM1 9131 broad.mit.edu 37 X 129265714 129265714 + Silent SNP G G A TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chrX:129265714G>A ENST00000287295.3 - 14.0 1739 c.1509C>T c.(1507-1509)ccC>ccT p.P503P AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000440263.1_Silent_p.P151P|AIFM1_ENST00000460436.2_Silent_p.P164P|AIFM1_ENST00000346424.2_Silent_p.P216P|AIFM1_ENST00000319908.3_Silent_p.P499P NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 503.0 activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510) cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634) DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30.0 Flavin adenine dinucleotide(DB03147) CACCAACTGTGGGCAAACTAC 0.478 0 G ,,,, 0,3835 0,0,0,1632,571 190.0 163.0 172.0 453,,1509,1497,648 4.8 1.0 X 172.0 1,6727 0,0,1,2428,1871 no coding-synonymous,utr-3,coding-synonymous,coding-synonymous,coding-synonymous AIFM1 NM_001130846.2,NM_001130847.3,NM_004208.3,NM_145812.2,NM_145813.2 ,,,, 0,0,1,4060,2442 AA,AG,A,GG,G 0.0149,0.0,0.0095 ,,,, 151/262,,503/614,499/610,216/327 129265714.0 1,10562 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF100928 CCDS14618.1, CCDS14619.1, CCDS48167.1 Xq26.1 2014-01-30 2006-11-16 2006-11-16 ENSG00000156709 ENSG00000156709 9131.0 9131.0 8768.0 protein-coding gene gene with protein product 300169.0 """programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)""" PDCD8, NAMSD 9989411, 23217327 Standard NM_004208 Approved AIF, CMTX4 uc004evg.3 O95831 OTTHUMG00000022392 ENST00000287295.3:c.1509C>T X.__UNKNOWN__:g.129265714G>A A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4 __UNKNOWN__ CCDS14618.1 AIFM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058247.2 - ENST00000287295.3 Silent SNP PCPG-TCGA-RW-A67V-Normal-SM-5EQFH DHX37 57647 broad.mit.edu 37 12 125450247 125450247 + Missense_Mutation SNP C C T TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr12:125450247C>T ENST00000544745.1 - 10.0 1172 c.1063G>A c.(1063-1065)Gat>Aat p.D355N DHX37_ENST00000308736.2_Missense_Mutation_p.D568N Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 568.0 Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}. ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676) breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65.0 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) AGGTCCAGATCGAGGTCGGAG 0.597 0 140.0 106.0 117.0 12 125450247.0 2203.0 4300.0 6503.0 SO:0001583 missense AB040950 CCDS9261.1 12q24.31 2004-03-25 2003-06-13 2003-06-20 ENSG00000150990 57647.0 57647.0 """DEAH-boxes""" 17210.0 protein-coding gene gene with protein product """DEAD/DEAH box helicase DDX37""" DDX37 10819331 Standard NM_032656 NM_032656 Approved KIAA1517, MGC4322, MGC2695 uc001ugy.3 Q8IY37 ENST00000544745.1:c.1063G>A 12.__UNKNOWN__:g.125450247C>T ENSP00000439009:p.Asp355Asn Q9BUI7|Q9P211 __UNKNOWN__ . . . . . . . . . . C 17.39 3.377516 0.61735 . . ENSG00000150990 ENST00000308736;ENST00000544745 T;T 0.03441 3.99;3.93 5.26 5.26 0.73747 Helicase, C-terminal (2); 0.093264 0.64402 D 0.000001 T 0.10594 0.0259 M 0.70275 2.135 0.80722 D 1 D 0.63046 0.992 P 0.47528 0.549 T 0.01202 -1.1420 10 0.66056 D 0.02 -12.7706 18.4861 0.90830 0.0:1.0:0.0:0.0 . 568 Q8IY37 DHX37_HUMAN N 568;355 ENSP00000311135:D568N;ENSP00000439009:D355N ENSP00000311135:D568N D - 1 0 DHX37 124016200 1.000000 0.71417 0.827000 0.32855 0.292000 0.27327 6.416000 0.73332 2.465000 0.83290 0.655000 0.94253 GAT DHX37-002 PUTATIVE basic protein_coding protein_coding OTTHUMT00000400197.1 - ENST00000544745.1 Missense_Mutation SNP PCPG-TCGA-RW-A67V-Normal-SM-5EQFH SNHG14 0 broad.mit.edu 37 15 25470450 25470452 + RNA DEL GGA GGA - TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr15:25470450_25470452delGGA ENST00000453082.2 + 0.0 1061 NR_003343.1 small nucleolar RNA host gene 14 (non-protein coding) TGAGAATTTTGGAGGAGGACACT 0.493 0 15q11.2 2014-01-17 2011-08-22 2011-08-22 ENSG00000224078 ENSG00000224078 """Long non-coding RNAs""" 37462.0 non-coding RNA RNA, long non-coding """non-protein coding RNA 214""" """UBE3A antisense RNA 1 (non-protein coding)""" UBE3A-AS1 23771028 Standard Approved NCRNA00214, UBE3A-AS OTTHUMG00000056661 ENST00000453082.2: 15.__UNKNOWN__:g.25470456_25470458delGGA __UNKNOWN__ SNHG14-003 KNOWN non_canonical_TEC|basic antisense processed_transcript OTTHUMT00000126730.2 + ENST00000453082.2 RNA DEL PCPG-TCGA-RW-A67V-Normal-SM-5EQFH MRPL37 51253 bcgsc.ca 37 1 54665938 54665938 + Missense_Mutation SNP G G A TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr1:54665938G>A ENST00000360840.5 + 1.0 99 c.22G>A c.(22-24)Gca>Aca p.A8T MRPL37_ENST00000336230.6_5'UTR|MRPL37_ENST00000605337.1_Missense_Mutation_p.A8T|MRPL37_ENST00000487096.1_Intron NM_016491.3 NP_057575.2 Q9BZE1 RM37_HUMAN mitochondrial ribosomal protein L37 8.0 translation (GO:0006412) mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2) 19.0 GTCCGGGCCCGCAAGGCGGGC 0.701 0 39.0 50.0 46.0 1 54665938.0 2173.0 4259.0 6432.0 SO:0001583 missense AB051344 CCDS589.1 1p32.1 2012-09-13 ENSG00000116221 ENSG00000116221 51253.0 51253.0 """Mitochondrial ribosomal proteins / large subunits""" 14034.0 protein-coding gene gene with protein product 611843 10600119 Standard NM_016491 NM_016491 Approved RPML2, MRP-L2 uc001cxa.4 Q9BZE1 OTTHUMG00000008118 ENST00000360840.5:c.22G>A 1.__UNKNOWN__:g.54665938G>A ENSP00000354086:p.Ala8Thr Q96Q67|Q9BWR1|Q9P0P3 __UNKNOWN__ CCDS589.1 . . . . . . . . . . G 15.37 2.813113 0.50527 . . ENSG00000116221 ENST00000360840 T 0.33438 1.41 4.94 2.88 0.33553 . 0.542377 0.18563 N 0.137554 T 0.20901 0.0503 L 0.44542 1.39 0.45118 D 0.998133 P 0.45428 0.858 B 0.32583 0.148 T 0.07424 -1.0773 10 0.37606 T 0.19 -0.6289 11.5864 0.50920 0.0:0.0:0.6818:0.3182 . 8 Q9BZE1 RM37_HUMAN T 8 ENSP00000354086:A8T ENSP00000354086:A8T A + 1 0 MRPL37 54438526 0.355000 0.24921 0.910000 0.35882 0.366000 0.29705 1.790000 0.38734 1.404000 0.46819 0.655000 0.94253 GCA MRPL37-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000022224.1 + ENST00000360840.5 Missense_Mutation SNP PCPG-TCGA-RW-A67V-Normal-SM-5EQFH ADAMTS13 11093 ucsc.edu 37 9 136314906 136314906 + Nonsense_Mutation SNP G G A TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr9:136314906G>A ENST00000371929.3 + 23.0 3308 c.2864G>A c.(2863-2865)tGg>tAg p.W955* ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Nonsense_Mutation_p.W924*|ADAMTS13_ENST00000355699.2_Nonsense_Mutation_p.W955*|ADAMTS13_ENST00000536611.1_3'UTR NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 955.0 TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}. cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612) cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36.0 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) TGCTCCAGGTGGCAGTACAAG 0.637 0 55.0 66.0 63.0 9 136314906.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AJ011374 CCDS6970.1, CCDS6971.1, CCDS6972.1 9q34 2008-07-21 2005-08-19 2001-09-21 ENSG00000160323 ENSG00000160323 11093.0 11093.0 """ADAM metallopeptidases with thrombospondin type 1 motif""" 1366.0 protein-coding gene gene with protein product 604134 """a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13""" C9orf8 11557746, 11535495 Standard NM_139025 NM_139025 Approved VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322 uc004cdv.4 Q76LX8 OTTHUMG00000020876 ENST00000371929.3:c.2864G>A 9.__UNKNOWN__:g.136314906G>A ENSP00000360997:p.Trp955* Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1 __UNKNOWN__ CCDS6970.1 . . . . . . . . . . G 37 5.999140 0.97189 . . ENSG00000160323 ENST00000371929;ENST00000355699;ENST00000356589 . . . 4.24 4.24 0.50183 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 . 15.2023 0.73150 0.0:0.0:1.0:0.0 . . . . X 955;955;924 . ENSP00000347927:W955X W + 2 0 ADAMTS13 135304727 1.000000 0.71417 0.911000 0.35937 0.122000 0.20287 3.821000 0.55700 1.919000 0.55581 0.555000 0.69702 TGG ADAMTS13-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000054920.1 + ENST00000371929.3 Nonsense_Mutation SNP PCPG-TCGA-RW-A67V-Normal-SM-5EQFH CREB3L4 148327 ucsc.edu 37 1 153945716 153945716 + Silent SNP C C T TCGA-RW-A67V-01A-11D-A35D-08 TCGA-RW-A67V-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 4d177db6-8f67-47e6-9cd7-9a7d8e3465e1 da931eb3-5bef-4845-a09f-67095468917e g.chr1:153945716C>T ENST00000368607.3 + 7.0 1055 c.789C>T c.(787-789)gtC>gtT p.V263V CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368603.1_Silent_p.V263V|CREB3L4_ENST00000271889.4_Silent_p.V263V|CREB3L4_ENST00000405694.3_Silent_p.V116V|CREB3L4_ENST00000368600.3_Silent_p.V243V NM_001255978.1|NM_001255980.1|NM_130898.3 NP_001242907.1|NP_001242909.1|NP_570968.1 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 4 263.0 Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}. response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3) 13.0 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AGAAAAAAGTCCAGGAGCTGG 0.512 0 64.0 64.0 64.0 1 153945716.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF394167 CCDS1056.1, CCDS58029.1 1q21.2 2013-01-10 ENSG00000143578 ENSG00000143578 148327.0 148327.0 """basic leucine zipper proteins""" 18854.0 protein-coding gene gene with protein product 607138 Standard NM_130898 NM_130898 Approved AIbZIP, CREB4, CREB3, hJAL, ATCE1 uc001fdr.3 Q8TEY5 OTTHUMG00000037159 ENST00000368607.3:c.789C>T 1.__UNKNOWN__:g.153945716C>T D3DV62|Q5T4L0|Q86YW6 __UNKNOWN__ CCDS1056.1 CREB3L4-002 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000090291.1 + ENST00000368607.3 Silent SNP PCPG-TCGA-RW-A67V-Normal-SM-5EQFH LYST 1130 broad.mit.edu 37 1 235969125 235969125 + Missense_Mutation SNP C C T rs148299757 by1000genomes TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr1:235969125C>T ENST00000389794.3 - 6.0 3485 c.3311G>A c.(3310-3312)cGa>cAa p.R1104Q LYST_ENST00000389793.2_Missense_Mutation_p.R1104Q|LYST_ENST00000536965.1_Missense_Mutation_p.R1104Q Q99698 LYST_HUMAN lysosomal trafficking regulator 1104.0 blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456) cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630) 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) 162.0 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) TTCCAAAAGTCGTATACTTTG 0.428 C 1.0 0.0005 2184.0 1.0 , , 0.0003 0.0013 0.0005 1.0 LOWCOV,EXOME 0.0011 SNP 0 C GLN/ARG 0,4406 0,0,2203 76.0 74.0 75.0 3311 5.6 1.0 1 dbSNP_134 75.0 4,8596 3.7+/-12.6 0,4,4296 yes missense LYST NM_000081.2 43 0,4,6499 TT,TC,CC 0.0465,0.0,0.0308 probably-damaging 1104/3802 235969125.0 4,13002 2203.0 4300.0 6503.0 SO:0001583 missense U70064 CCDS31062.1 1q42.1-q42.2 2014-09-17 2004-12-09 2004-12-10 ENSG00000143669 ENSG00000143669 1130.0 1130.0 """WD repeat domain containing""" 1968.0 protein-coding gene gene with protein product 606897.0 """Chediak-Higashi syndrome 1""" CHS1 8717042, 8896560 Standard NM_000081 Approved CHS uc001hxj.3 Q99698 OTTHUMG00000040527 ENST00000389794.3:c.3311G>A 1.__UNKNOWN__:g.235969125C>T ENSP00000374444:p.Arg1104Gln O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133 __UNKNOWN__ CCDS31062.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 C 35 5.475629 0.96291 0.0 4.65E-4 ENSG00000143669 ENST00000389794;ENST00000389793;ENST00000536965 T;T;T 0.66460 -0.21;-0.21;0.89 5.55 5.55 0.83447 . 0.000000 0.85682 D 0.000000 T 0.81153 0.4763 M 0.64997 1.995 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.85130 0.997;0.997 T 0.81915 -0.0714 10 0.66056 D 0.02 . 19.5156 0.95162 0.0:1.0:0.0:0.0 . 1104;1104 Q99698-3;Q99698 .;LYST_HUMAN Q 1104 ENSP00000374444:R1104Q;ENSP00000374443:R1104Q;ENSP00000438315:R1104Q ENSP00000374443:R1104Q R - 2 0 LYST 234035748 1.000000 0.71417 1.000000 0.80357 0.954000 0.61252 5.905000 0.69893 2.605000 0.88082 0.563000 0.77884 CGA LYST-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097533.5 - ENST00000389794.3 Missense_Mutation SNP PCPG-TCGA-RW-A67W-Normal-SM-5EQG6 MLKL 197259 broad.mit.edu 37 16 74725330 74725330 + Silent SNP C C T TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr16:74725330C>T ENST00000308807.7 - 4.0 1030 c.567G>A c.(565-567)ccG>ccA p.P189P MLKL_ENST00000306247.7_Intron NM_152649.2 NP_689862.1 mixed lineage kinase domain-like breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19.0 TTTGCTCTTGCGGGATCTCCT 0.478 0 185.0 172.0 176.0 16 74725330.0 2198.0 4300.0 6498.0 SO:0001819 synonymous_variant AK091708 CCDS32487.1, CCDS45528.1 16q22.3 2008-02-05 ENSG00000168404 197259.0 197259.0 26617.0 protein-coding gene gene with protein product 615153.0 12477932 Standard NM_152649 NM_152649 Approved FLJ34389 uc002fdb.2 Q8NB16 ENST00000308807.7:c.567G>A 16.__UNKNOWN__:g.74725330C>T __UNKNOWN__ CCDS32487.1 MLKL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000436403.3 - ENST00000308807.7 Silent SNP PCPG-TCGA-RW-A67W-Normal-SM-5EQG6 SRGAP2 23380 broad.mit.edu 37 1 206566110 206566110 + Missense_Mutation SNP C C T TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr1:206566110C>T ENST00000414007.1 + 2.0 131 c.131C>T c.(130-132)gCg>gTg p.A44V SRGAP2_ENST00000419187.2_5'UTR O75044 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 184.0 F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}. actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446) cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365) NS(1)|breast(1)|kidney(1)|lung(1) 4.0 Breast(84;0.137) CTAAAGGAGGCGGAGAAGCAG 0.557 0 36.0 38.0 37.0 1 206566110.0 2073.0 4219.0 6292.0 SO:0001583 missense AB007925 CCDS73017.1 1q32.1 2014-08-13 2004-11-12 2004-11-12 ENSG00000163486 ENSG00000266028 23380.0 23380.0 """Rho GTPase activating proteins""" 19751.0 protein-coding gene gene with protein product 606524.0 """formin binding protein 2""" FNBP2 15046868, 11672528 Standard NM_015326 XM_005277510 Approved KIAA0456, ARHGAP34, SRGAP2A uc001hdy.3 O75044 OTTHUMG00000184381 ENST00000414007.1:c.131C>T 1.__UNKNOWN__:g.206566110C>T ENSP00000390898:p.Ala44Val __UNKNOWN__ . . . . . . . . . . C 34 5.375691 0.95923 . . ENSG00000163486 ENST00000414359;ENST00000414007 T 0.18338 2.22 5.36 5.36 0.76844 . 0.000000 0.85682 D 0.000000 T 0.44498 0.1296 . . . 0.80722 D 1.000000 D;P;P 0.89917 1.0;0.884;0.909 D;P;B 0.80764 0.994;0.699;0.233 T 0.29058 -1.0024 8 0.45353 T 0.12 . 19.085 0.93200 0.0:1.0:0.0:0.0 . 31;184;184 B4DDU0;O75044;B7Z3G4 .;FNBP2_HUMAN;. V 98;44 ENSP00000390898:A44V ENSP00000390898:A44V A + 2 0 SRGAP2 204632733 1.000000 0.71417 0.998000 0.56505 0.993000 0.82548 7.811000 0.86092 2.483000 0.83821 0.455000 0.32223 GCG SRGAP2-201 KNOWN basic protein_coding protein_coding + ENST00000414007.1 Missense_Mutation SNP PCPG-TCGA-RW-A67W-Normal-SM-5EQG6 MMP15 4324 broad.mit.edu 37 16 58077523 58077523 + Missense_Mutation SNP A A G TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr16:58077523A>G ENST00000219271.3 + 9.0 2347 c.1562A>G c.(1561-1563)aAt>aGt p.N521S NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 521.0 cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355) extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18.0 Marimastat(DB00786) TTCCTGAGCAATGACGCAGGT 0.627 0 47.0 42.0 44.0 16 58077523.0 2198.0 4300.0 6498.0 SO:0001583 missense Z48482 CCDS10792.1 16q13 2008-05-14 2005-08-08 ENSG00000102996 ENSG00000102996 4324.0 4324.0 7161.0 protein-coding gene gene with protein product 602261.0 """matrix metalloproteinase 15 (membrane-inserted)""" 9070935, 9119382 Standard NM_002428 NM_002428 Approved MT2-MMP, MTMMP2, SMCP-2 uc002ena.3 P51511 OTTHUMG00000133466 ENST00000219271.3:c.1562A>G 16.__UNKNOWN__:g.58077523A>G ENSP00000219271:p.Asn521Ser A0A2U6|Q14111 __UNKNOWN__ CCDS10792.1 . . . . . . . . . . A 2.890 -0.229793 0.06022 . . ENSG00000102996 ENST00000219271 T 0.02216 4.39 5.45 0.497 0.16902 Hemopexin/matrixin (2); 0.393945 0.27956 N 0.017162 T 0.00695 0.0023 N 0.00637 -1.305 0.09310 N 1 B 0.15141 0.012 B 0.28385 0.089 T 0.47861 -0.9084 10 0.06757 T 0.87 . 5.1881 0.15195 0.4465:0.2896:0.2639:0.0 . 521 P51511 MMP15_HUMAN S 521 ENSP00000219271:N521S ENSP00000219271:N521S N + 2 0 MMP15 56635024 0.791000 0.28800 0.909000 0.35828 0.877000 0.50540 1.925000 0.40074 0.072000 0.16694 0.533000 0.62120 AAT MMP15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257342.1 + ENST00000219271.3 Missense_Mutation SNP PCPG-TCGA-RW-A67W-Normal-SM-5EQG6 USP6 9098 broad.mit.edu 37 17 5074086 5074086 + Missense_Mutation SNP G G A TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr17:5074086G>A ENST00000574788.1 + 36.0 6060 c.3830G>A c.(3829-3831)tGt>tAt p.C1277Y USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.C1277Y|USP6_ENST00000304328.5_Missense_Mutation_p.C960Y P35125 UBP6_HUMAN ubiquitin specific peptidase 6 1277.0 USP. cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037) calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843) 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) 34.0 CATGAAGCATGTGGCAATGGC 0.522 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts Dom yes 17 17p13 9098.0 ubiquitin specific peptidase 6 (Tre-2 oncogene) M 0 G TYR/CYS 0,4406 0,0,2203 89.0 75.0 80.0 3830 1.5 1.0 17 80.0 1,8599 1.2+/-3.3 0,1,4299 no missense USP6 NM_004505.2 194 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 benign 1277/1407 5074086.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense X63547 CCDS11069.2 17p13 2014-06-12 2014-06-12 ENSG00000129204 ENSG00000129204 9098.0 9098.0 3.4.19.12 """Ubiquitin-specific peptidases""" 12629.0 protein-coding gene gene with protein product """ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene""" 604334.0 """ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)""" HRP1, TRESMCR 12838346, 1349106 Standard NM_004505 NM_004505 Approved Tre-2, TRE17, Tre2 uc002gav.1 P35125 OTTHUMG00000099449 ENST00000574788.1:c.3830G>A 17.__UNKNOWN__:g.5074086G>A ENSP00000460380:p.Cys1277Tyr Q15634|Q86WP6|Q8IWT4 __UNKNOWN__ CCDS11069.2 . . . . . . . . . . G 4.201 0.035982 0.08148 0.0 1.16E-4 ENSG00000129204 ENST00000250066;ENST00000304328 T;T 0.12774 3.06;2.65 2.49 1.49 0.22878 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2); . . . . T 0.05777 0.0151 N 0.14661 0.345 0.35371 D 0.789046 B;B 0.22414 0.002;0.069 B;B 0.21708 0.006;0.036 T 0.30475 -0.9977 9 0.02654 T 1 . 6.9001 0.24277 0.1592:0.0:0.8407:0.0 . 960;1277 P35125-2;P35125 .;UBP6_HUMAN Y 1277;960 ENSP00000250066:C1277Y;ENSP00000305473:C960Y ENSP00000250066:C1277Y C + 2 0 USP6 5014810 1.000000 0.71417 0.999000 0.59377 0.485000 0.33311 2.970000 0.49240 1.400000 0.46741 0.184000 0.17185 TGT USP6-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000438990.1 + ENST00000574788.1 Missense_Mutation SNP PCPG-TCGA-RW-A67W-Normal-SM-5EQG6 FHDC1 85462 broad.mit.edu 37 4 153884185 153884185 + Missense_Mutation SNP C C T TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr4:153884185C>T ENST00000511601.1 + 8.0 1120 c.932C>T c.(931-933)gCc>gTc p.A311V FHDC1_ENST00000260008.3_Missense_Mutation_p.A311V Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 311.0 FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}. 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) 43.0 all_hematologic(180;0.093) GGAGGGTATGCCGGCAATGCA 0.403 0 106.0 113.0 111.0 4 153884185.0 2203.0 4300.0 6503.0 SO:0001583 missense AB051514 CCDS34081.1 4q31.3 2014-02-12 2007-11-29 ENSG00000137460 ENSG00000137460 85462.0 85462.0 29363.0 protein-coding gene gene with protein product 15138637 Standard NM_033393 NM_033393 Approved KIAA1727 uc003inf.2 Q9C0D6 OTTHUMG00000161452 ENST00000511601.1:c.932C>T 4.__UNKNOWN__:g.153884185C>T ENSP00000427567:p.Ala311Val __UNKNOWN__ CCDS34081.1 . . . . . . . . . . C 33 5.202239 0.94997 . . ENSG00000137460 ENST00000511601;ENST00000260008 T;T 0.17691 2.26;2.26 5.49 5.49 0.81192 Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3); 0.000000 0.85682 D 0.000000 T 0.52354 0.1729 M 0.89904 3.07 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.60637 -0.7224 10 0.59425 D 0.04 . 19.4094 0.94662 0.0:1.0:0.0:0.0 . 311 Q9C0D6 FHDC1_HUMAN V 311 ENSP00000427567:A311V;ENSP00000260008:A311V ENSP00000260008:A311V A + 2 0 FHDC1 154103635 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 7.487000 0.81328 2.583000 0.87209 0.561000 0.74099 GCC FHDC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000364981.2 + ENST00000511601.1 Missense_Mutation SNP PCPG-TCGA-RW-A67W-Normal-SM-5EQG6 PCDHA1 0 broad.mit.edu 37 5 140167494 140167494 + Missense_Mutation SNP C C T TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr5:140167494C>T ENST00000504120.2 + 1.0 1619 c.1619C>T c.(1618-1620)gCg>gTg p.A540V PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A540V NM_018900.2 NP_061723.1 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 540.0 Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}. cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70.0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGGGATGCGGGCGTGCCG 0.682 0 62.0 67.0 66.0 5 140167494.0 2203.0 4298.0 6501.0 SO:0001583 missense AF152479 CCDS54912.1, CCDS54913.1 5q31 2010-11-26 ENSG00000204970 56147.0 56147.0 """Cadherins / Protocadherins : Clustered""" 8663.0 other complex locus constituent """KIAA0345-like 13""" 606307.0 10380929 Standard NM_018900 NM_018900 Approved Q9Y5I3 ENST00000504120.2:c.1619C>T 5.__UNKNOWN__:g.140167494C>T ENSP00000420840:p.Ala540Val O75288|Q9NRT7 __UNKNOWN__ CCDS54913.1 . . . . . . . . . . c 18.40 3.615636 0.66672 . . ENSG00000204970 ENST00000504120;ENST00000378133 T;T 0.53857 0.6;0.6 3.49 3.49 0.39957 Cadherin (4);Cadherin-like (1); 0.404731 0.17581 U 0.169114 T 0.62575 0.2439 L 0.53617 1.68 0.31041 N 0.71635 D;D 0.67145 0.995;0.996 P;P 0.56343 0.783;0.796 T 0.68697 -0.5340 10 0.87932 D 0 . 15.4054 0.74874 0.0:1.0:0.0:0.0 . 540;540 Q9Y5I3;Q9Y5I3-3 PCDA1_HUMAN;. V 540 ENSP00000420840:A540V;ENSP00000367373:A540V ENSP00000367373:A540V A + 2 0 PCDHA1 140147678 0.462000 0.25791 0.953000 0.39169 0.396000 0.30629 0.881000 0.28173 1.676000 0.50930 0.549000 0.68633 GCG PCDHA1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000389127.1 + ENST00000504120.2 Missense_Mutation SNP PCPG-TCGA-RW-A67W-Normal-SM-5EQG6 DDX3X 1654 broad.mit.edu 37 X 41205821 41205821 + Missense_Mutation SNP G G A TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chrX:41205821G>A ENST00000399959.2 + 14.0 2416 c.1561G>A c.(1561-1563)Gat>Aat p.D521N DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.D505N NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 521.0 Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B. ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369) NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84.0 CTTGCCAAGTGATATTGAAGA 0.363 HNSCC(61;0.18) 0 164.0 156.0 158.0 X 41205821.0 2195.0 4300.0 6495.0 SO:0001583 missense U50553 CCDS43931.1, CCDS55404.1 Xp11.3-p11.23 2013-07-16 2013-07-16 2003-06-20 ENSG00000215301 ENSG00000215301 1654.0 1654.0 """DEAD-boxes""" 2745.0 protein-coding gene gene with protein product 300160.0 """DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked""" DDX3 9381176, 9730595 Standard NM_024005 NM_001193416 Approved DBX, HLP2, DDX14 uc004dfe.3 O00571 OTTHUMG00000021369 ENST00000399959.2:c.1561G>A X.__UNKNOWN__:g.41205821G>A ENSP00000382840:p.Asp521Asn A8K538|B4E3E8|O15536 __UNKNOWN__ CCDS43931.1 . . . . . . . . . . G 35 5.453197 0.96223 . . ENSG00000215301 ENST00000399959;ENST00000457138 T;T 0.73681 -0.77;-0.77 5.22 5.22 0.72569 Helicase, C-terminal (3); 0.000000 0.85682 D 0.000000 T 0.71459 0.3342 N 0.11756 0.17 0.80722 D 1 P;P;P 0.49961 0.471;0.93;0.93 B;P;P 0.54210 0.243;0.745;0.745 T 0.78137 -0.2321 10 0.87932 D 0 -1.2872 17.9414 0.89027 0.0:0.0:1.0:0.0 . 505;533;521 B4E3E8;Q59GX6;O00571 .;.;DDX3X_HUMAN N 521;505 ENSP00000382840:D521N;ENSP00000392494:D505N ENSP00000382840:D521N D + 1 0 DDX3X 41090765 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 9.810000 0.99221 2.170000 0.68504 0.600000 0.82982 GAT DDX3X-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056253.1 + ENST00000399959.2 Missense_Mutation SNP PCPG-TCGA-RW-A67W-Normal-SM-5EQG6 ILDR1 286676 broad.mit.edu 37 3 121720708 121720708 + Missense_Mutation SNP G G A TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr3:121720708G>A ENST00000344209.5 - 4.0 509 c.383C>T c.(382-384)gCa>gTa p.A128V ILDR1_ENST00000273691.3_Missense_Mutation_p.A128V|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.A140V|ILDR1_ENST00000393631.1_Intron NM_001199799.1 NP_001186728.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 128.0 Ig-like V-type. positive regulation of peptide hormone secretion (GO:0090277) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) high-density lipoprotein particle receptor activity (GO:0070506) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25.0 GBM - Glioblastoma multiforme(114;0.156) CACGAGATCTGCTCCTACACA 0.517 0 137.0 129.0 131.0 3 121720708.0 2203.0 4300.0 6503.0 SO:0001583 missense BC044240 CCDS3008.1, CCDS56270.1, CCDS56271.1 3q21.1 2013-10-11 ENSG00000145103 ENSG00000145103 286676.0 286676.0 28741.0 protein-coding gene gene with protein product 609739.0 """deafness, autosomal recessive 42""" DFNB42 15641023, 21255762 Standard NM_175924 NM_175924 Approved MGC50831 uc003ees.3 Q86SU0 OTTHUMG00000159481 ENST00000344209.5:c.383C>T 3.__UNKNOWN__:g.121720708G>A ENSP00000345667:p.Ala128Val Q6ZP61|Q7Z578 __UNKNOWN__ CCDS56271.1 . . . . . . . . . . G 33 5.229027 0.95173 . . ENSG00000145103 ENST00000273691;ENST00000344209;ENST00000462014 T;T;T 0.55930 0.49;0.49;0.49 5.14 5.14 0.70334 Immunoglobulin subtype (1);Immunoglobulin-like fold (1); 0.000000 0.85682 D 0.000000 T 0.74168 0.3681 M 0.81942 2.565 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.87578 0.996;0.998;0.998 T 0.77169 -0.2686 10 0.87932 D 0 -12.5997 16.4898 0.84197 0.0:0.0:1.0:0.0 . 128;128;140 Q86SU0;Q86SU0-2;Q86SU0-6 ILDR1_HUMAN;.;. V 128;128;140 ENSP00000273691:A128V;ENSP00000345667:A128V;ENSP00000419414:A140V ENSP00000273691:A128V A - 2 0 ILDR1 123203398 1.000000 0.71417 1.000000 0.80357 0.896000 0.52359 9.208000 0.95075 2.837000 0.97791 0.655000 0.94253 GCA ILDR1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000355666.1 - ENST00000344209.5 Missense_Mutation SNP PCPG-TCGA-RW-A67W-Normal-SM-5EQG6 NOC3L 64318 broad.mit.edu 37 10 96112725 96112725 + Silent SNP C C G TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr10:96112725C>G ENST00000371361.3 - 7.0 886 c.786G>C c.(784-786)ctG>ctC p.L262L NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000543788.1_5'UTR|NOC3L_ENST00000371350.1_Silent_p.L262L NM_022451.9 NP_071896.8 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog (S. cerevisiae) 262.0 fat cell differentiation (GO:0045444) nuclear speck (GO:0016607)|nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822) endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1) 29.0 Colorectal(252;0.0897) ATAACTCCATCAGAGAAACAA 0.333 0 96.0 103.0 101.0 10 96112725.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AL355341 CCDS7433.1 10q23.33 2004-04-20 2005-08-01 2005-08-01 ENSG00000173145 ENSG00000173145 64318.0 64318.0 24034.0 protein-coding gene gene with protein product 610769.0 """chromosome 10 open reading frame 117""" C10orf117 15564382 Standard NM_022451 NM_022451 Approved AD24, FLJ12820, FAD24 uc001kjq.1 Q8WTT2 OTTHUMG00000018788 ENST00000371361.3:c.786G>C 10.__UNKNOWN__:g.96112725C>G Q9H5M6|Q9H9D8 __UNKNOWN__ CCDS7433.1 NOC3L-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000049466.1 - ENST00000371361.3 Silent SNP PCPG-TCGA-RW-A67W-Normal-SM-5EQG6 RYR1 6261 broad.mit.edu 37 19 38958370 38958370 + Missense_Mutation SNP G G A TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr19:38958370G>A ENST00000359596.3 + 25.0 3299 c.3299G>A c.(3298-3300)cGc>cAc p.R1100H RYR1_ENST00000355481.4_Missense_Mutation_p.R1100H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1100H P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1100.0 6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}. calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802) calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245) 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) 285.0 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786) GGCGAGATGCGCGTGGGCTGG 0.627 0 88.0 75.0 79.0 19 38958370.0 2203.0 4300.0 6503.0 SO:0001583 missense J05200 CCDS33011.1, CCDS42563.1 19q13.1 2014-09-17 ENSG00000196218 6261.0 6261.0 """Ion channels / Ryanodine receptors""" 10483.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 137""" 180901.0 """central core disease of muscle""" MHS, MHS1, CCO 1862346, 16621918 Standard NM_000540 Approved RYR, PPP1R137 uc002oit.3 P21817 ENST00000359596.3:c.3299G>A 19.__UNKNOWN__:g.38958370G>A ENSP00000352608:p.Arg1100His Q16314|Q16368|Q9NPK1|Q9P1U4 __UNKNOWN__ CCDS33011.1 . . . . . . . . . . g 18.16 3.562473 0.65538 . . ENSG00000196218 ENST00000359596;ENST00000355481;ENST00000360985 T;T;T 0.71341 -0.56;-0.56;-0.56 2.94 2.94 0.34122 Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1); 0.177658 0.34200 U 0.004163 D 0.87916 0.6298 H 0.95780 3.72 0.47905 D 0.999549 D;D 0.89917 1.0;1.0 D;D 0.97110 0.998;1.0 D 0.91875 0.5511 10 0.87932 D 0 . 14.772 0.69688 0.0:0.0:1.0:0.0 . 1100;1100 P21817-2;P21817 .;RYR1_HUMAN H 1100 ENSP00000352608:R1100H;ENSP00000347667:R1100H;ENSP00000354254:R1100H ENSP00000347667:R1100H R + 2 0 RYR1 43650210 1.000000 0.71417 1.000000 0.80357 0.954000 0.61252 9.329000 0.96413 1.972000 0.57404 0.403000 0.27427 CGC RYR1-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000462137.1 + ENST00000359596.3 Missense_Mutation SNP PCPG-TCGA-RW-A67W-Normal-SM-5EQG6 EPB41 2035 broad.mit.edu 37 1 29365807 29365807 + Missense_Mutation SNP C C A TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr1:29365807C>A ENST00000343067.4 + 11.0 1632 c.1505C>A c.(1504-1506)gCg>gAg p.A502E EPB41_ENST00000373797.1_Missense_Mutation_p.A502E|EPB41_ENST00000398863.2_Missense_Mutation_p.A502E|EPB41_ENST00000356093.2_Missense_Mutation_p.A502E|EPB41_ENST00000373800.3_Missense_Mutation_p.A293E|EPB41_ENST00000347529.3_Missense_Mutation_p.A467E|EPB41_ENST00000373798.1_Missense_Mutation_p.A502E|EPB41_ENST00000349460.4_Missense_Mutation_p.A293E NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 502.0 Hydrophilic. actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092) cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) 1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14.0 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) AAATTTCTTGCGCTAGGATCC 0.428 0 89.0 89.0 89.0 1 29365807.0 2203.0 4300.0 6503.0 SO:0001583 missense BC039079 CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1 1p33-p32 2014-05-09 2014-05-09 ENSG00000159023 ENSG00000159023 2035.0 2035.0 3377.0 protein-coding gene gene with protein product 130500.0 """elliptocytosis 1, RH-linked""" EL1 Standard NM_203342 NM_001166005 Approved 4.1R uc001brm.2 P11171 OTTHUMG00000003644 ENST00000343067.4:c.1505C>A 1.__UNKNOWN__:g.29365807C>A ENSP00000345259:p.Ala502Glu B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579 __UNKNOWN__ CCDS53288.1 . . . . . . . . . . C 24.4 4.529116 0.85706 . . ENSG00000159023 ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797 D;D;D;D;D;D;D;D 0.85629 -2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01 5.39 5.39 0.77823 FERM adjacent (FA) (1); 0.103054 0.64402 D 0.000003 D 0.89729 0.6799 L 0.40543 1.245 0.52099 D 0.999944 P;P;D;P;D;D;D;D;D;D 0.89917 0.827;0.777;0.992;0.827;0.981;0.99;0.992;0.99;1.0;0.967 P;P;D;P;P;P;D;P;D;P 0.87578 0.664;0.647;0.929;0.592;0.838;0.884;0.929;0.838;0.998;0.785 D 0.90520 0.4488 10 0.87932 D 0 . 18.5077 0.90904 0.0:1.0:0.0:0.0 . 396;502;502;502;502;502;519;467;293;293 E9PEX0;E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3 .;.;.;41_HUMAN;.;.;.;.;.;. E 519;502;502;502;396;502;293;293;467;502;502 ENSP00000345259:A502E;ENSP00000348397:A502E;ENSP00000381839:A502E;ENSP00000317597:A293E;ENSP00000362906:A293E;ENSP00000290100:A467E;ENSP00000362904:A502E;ENSP00000362903:A502E ENSP00000345259:A502E A + 2 0 EPB41 29238394 0.969000 0.33509 0.996000 0.52242 0.984000 0.73092 2.361000 0.44160 2.687000 0.91594 0.650000 0.86243 GCG EPB41-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000010312.1 + ENST00000343067.4 Missense_Mutation SNP PCPG-TCGA-RW-A67W-Normal-SM-5EQG6 IGSF9B 22997 broad.mit.edu 37 11 133790306 133790306 + Missense_Mutation SNP C C T TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr11:133790306C>T ENST00000533871.2 - 18.0 3544 c.3314G>A c.(3313-3315)gGc>gAc p.G1105D IGSF9B_ENST00000321016.8_Missense_Mutation_p.G1105D NM_001277285.1 NP_001264214.1 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1105.0 Pro-rich. homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151) dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) 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) 44.0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GGGCGACTTGCCTGCCCAACC 0.706 0 26.0 28.0 28.0 11 133790306.0 1902.0 4104.0 6006.0 SO:0001583 missense AK097578 CCDS61010.1 11q25 2013-02-11 2005-10-12 2005-11-20 22997.0 22997.0 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 32326.0 protein-coding gene gene with protein product 613773.0 Standard XM_290502 NM_001277285 Approved KIAA1030 uc031qfh.1 Q9UPX0 ENST00000533871.2:c.3314G>A 11.__UNKNOWN__:g.133790306C>T ENSP00000436552:p.Gly1105Asp G5EA26 __UNKNOWN__ . . . . . . . . . . C 16.48 3.134431 0.56828 . . ENSG00000080854 ENST00000321016;ENST00000533871 T;T 0.68025 0.03;-0.3 5.15 5.15 0.70609 . 0.000000 0.45606 D 0.000349 T 0.71771 0.3379 N 0.19112 0.55 0.45607 D 0.998542 D 0.76494 0.999 D 0.79108 0.992 T 0.75056 -0.3452 10 0.51188 T 0.08 . 18.2082 0.89861 0.0:1.0:0.0:0.0 . 1105 Q9UPX0 TUTLB_HUMAN D 1105;947 ENSP00000317980:G1105D;ENSP00000436552:G947D ENSP00000317980:G1105D G - 2 0 IGSF9B 133295516 1.000000 0.71417 0.999000 0.59377 0.633000 0.38033 5.693000 0.68264 2.394000 0.81467 0.455000 0.32223 GGC IGSF9B-002 PUTATIVE not_organism_supported|basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000471431.1 - ENST00000533871.2 Missense_Mutation SNP PCPG-TCGA-RW-A67W-Normal-SM-5EQG6 ZNF28 7576 broad.mit.edu 37 19 53303977 53303977 + Missense_Mutation SNP C C T TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr19:53303977C>T ENST00000457749.2 - 4.0 1240 c.1121G>A c.(1120-1122)cGt>cAt p.R374H ZNF28_ENST00000360272.4_Missense_Mutation_p.R321H|ZNF28_ENST00000438150.2_Missense_Mutation_p.R321H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R321H NM_006969.3 NP_008900.3 P17035 ZNF28_HUMAN zinc finger protein 28 374.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) 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) 34.0 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) ATGAAGCCTACGATGGCGTGC 0.383 - 0.0 0.0 2184.0 0.9999 , , 0.0003 0.0 0.0999 LOWCOV 0.001 SNP 0 88.0 91.0 90.0 19 53303977.0 2203.0 4300.0 6503.0 SO:0001583 missense X52355 CCDS33093.1, CCDS33093.2 19q13.41 2013-01-08 2006-05-10 ENSG00000198538 ENSG00000198538 7576.0 7576.0 """Zinc fingers, C2H2-type"", ""-""" 13073.0 protein-coding gene gene with protein product """zinc finger protein 28 (KOX 24)""" Standard NM_006969 NR_036599 Approved KOX24, DKFZp781D0275 uc002qad.3 P17035 OTTHUMG00000154564 ENST00000457749.2:c.1121G>A 19.__UNKNOWN__:g.53303977C>T ENSP00000397693:p.Arg374His A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56 __UNKNOWN__ CCDS33093.2 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 - 2.913 -0.224912 0.06022 . . ENSG00000198538 ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783 T;T;T;T;T 0.18502 2.21;2.21;2.21;2.21;2.21 1.75 0.423 0.16463 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.11024 0.0269 L 0.37850 1.14 0.09310 N 1 B 0.06786 0.001 B 0.04013 0.001 T 0.32719 -0.9896 9 0.39692 T 0.17 . 2.3666 0.04320 0.2389:0.1613:0.0:0.5998 . 374 P17035 ZNF28_HUMAN H 321;374;321;321;321 ENSP00000412143:R321H;ENSP00000397693:R374H;ENSP00000353410:R321H;ENSP00000444965:R321H;ENSP00000375661:R321H ENSP00000353410:R321H R - 2 0 ZNF28 57995789 0.000000 0.05858 0.000000 0.03702 0.005000 0.04900 -1.331000 0.02672 -0.024000 0.13941 -1.043000 0.02367 CGT ZNF28-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000336038.2 - ENST00000457749.2 Missense_Mutation SNP PCPG-TCGA-RW-A67W-Normal-SM-5EQG6 DEPDC5 9681 broad.mit.edu 37 22 32200859 32200859 + Missense_Mutation SNP G G A TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr22:32200859G>A ENST00000382112.3 + 16.0 1245 c.1175G>A c.(1174-1176)cGt>cAt p.R392H DEPDC5_ENST00000400242.3_Missense_Mutation_p.R392H|DEPDC5_ENST00000536766.1_Missense_Mutation_p.R364H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R392H|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R392H|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R392H|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R392H|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R392H|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R392H|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R392H NM_001136029.2|NM_001242896.1 NP_001129501.1|NP_001229825.1 O75140 DEPD5_HUMAN DEP domain containing 5 392.0 intracellular signal transduction (GO:0035556) cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471) GTPase activator activity (GO:0005096) 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) 63.0 CGTGATTCTCGTCTGGGCGAT 0.453 0 210.0 198.0 202.0 22 32200859.0 1902.0 4134.0 6036.0 SO:0001583 missense AB014545 CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1 22q12.3 2013-04-29 ENSG00000100150 ENSG00000100150 9681.0 9681.0 18423.0 protein-coding gene gene with protein product 614191.0 23542697, 23542701 Standard NM_014662 NM_001242896 Approved KIAA0645, DEP.5 uc011alu.2 O75140 OTTHUMG00000030926 ENST00000382112.3:c.1175G>A 22.__UNKNOWN__:g.32200859G>A ENSP00000371546:p.Arg392His A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13 __UNKNOWN__ CCDS46692.1 . . . . . . . . . . G 12.86 2.064168 0.36373 . . ENSG00000100150 ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248 T;T;T;T;T;T;T;T;T;T 0.46819 1.45;1.44;0.86;1.84;1.84;1.83;1.43;1.84;1.83;1.84 5.02 3.99 0.46301 . 0.157230 0.56097 D 0.000030 T 0.40448 0.1117 L 0.51422 1.61 0.80722 D 1 B;B;B;B;B;B 0.26602 0.0;0.015;0.154;0.023;0.014;0.018 B;B;B;B;B;B 0.13407 0.0;0.003;0.009;0.004;0.003;0.007 T 0.20739 -1.0266 10 0.28530 T 0.3 . 13.8524 0.63506 0.0:0.0:0.8461:0.1539 . 392;364;392;392;392;392 B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2 .;.;.;.;DEPD5_HUMAN;. H 392;364;392;392;392;392;392;392;392;392;392 ENSP00000440210:R392H;ENSP00000441358:R364H;ENSP00000383101:R392H;ENSP00000266091:R392H;ENSP00000383108:R392H;ENSP00000383105:R392H;ENSP00000371539:R392H;ENSP00000371546:R392H;ENSP00000371545:R392H;ENSP00000383107:R392H ENSP00000266091:R392H R + 2 0 DEPDC5 30530859 0.994000 0.37717 0.910000 0.35882 0.994000 0.84299 5.735000 0.68587 1.094000 0.41399 0.543000 0.68304 CGT DEPDC5-006 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000129087.1 + ENST00000382112.3 Missense_Mutation SNP PCPG-TCGA-RW-A67W-Normal-SM-5EQG6 ERG 2078 broad.mit.edu 37 21 39817410 39817410 + Silent SNP G G A TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr21:39817410G>A ENST00000417133.2 - 4.0 359 c.174C>T c.(172-174)gtC>gtT p.V58V ERG_ENST00000398897.1_Intron|ERG_ENST00000398910.1_Silent_p.V58V|ERG_ENST00000429727.2_Silent_p.V51V|ERG_ENST00000398907.1_Silent_p.V51V|ERG_ENST00000453032.2_Intron|ERG_ENST00000288319.7_Silent_p.V51V|ERG_ENST00000398905.1_Silent_p.V51V|ERG_ENST00000442448.1_Silent_p.V58V|ERG_ENST00000398911.1_Silent_p.V58V|ERG_ENST00000398919.2_Silent_p.V58V NM_001136154.1|NM_001243432.1 NP_001129626.1|NP_001230361.1 Q12809 KCNH2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 0.0 PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}. cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005) cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282) EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4.0 Prostate(19;3.6e-06) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661) CCTGCTGAGGGACGCGTGGGC 0.562 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" Esophageal Squamous(130;336 1700 3010 3083 40589) Dom yes 21 21q22.3 2078.0 v-ets erythroblastosis virus E26 oncogene like (avian) """M, E, L""" 0 110.0 89.0 96.0 21 39817410.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1 21q22.3 2013-07-09 2013-07-09 ENSG00000157554 ENSG00000157554 2078.0 2078.0 3446.0 protein-coding gene gene with protein product """v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific""" 165080.0 """v-ets avian erythroblastosis virus E26 oncogene related""" 3274086 Standard NM_182918 NM_001136154 Approved erg-3, p55 uc002yxa.3 P11308 OTTHUMG00000090767 ENST00000417133.2:c.174C>T 21.__UNKNOWN__:g.39817410G>A A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0 __UNKNOWN__ CCDS46648.1 ERG-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000207532.2 - ENST00000417133.2 Silent SNP PCPG-TCGA-RW-A67W-Normal-SM-5EQG6 MYBL1 4603 ucsc.edu 37 8 67484760 67484760 + Missense_Mutation SNP G G A TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr8:67484760G>A ENST00000522677.3 - 12.0 2095 c.1685C>T c.(1684-1686)gCg>gTg p.A562V MYBL1_ENST00000517885.1_Missense_Mutation_p.A220V|MYBL1_ENST00000524176.2_Missense_Mutation_p.A562V NM_001080416.2|NM_001144755.1 NP_001073885.1|NP_001138227.1 P10243 MYBA_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 1 562.0 positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893) nucleus (GO:0005634) chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1) 25.0 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) AGCAGCAAGCGCATTCTTAAA 0.294 0 110.0 98.0 102.0 8 67484760.0 1809.0 4073.0 5882.0 SO:0001583 missense X13294 CCDS47867.1, CCDS55241.1 8q22 2013-07-09 2013-07-09 ENSG00000185697 ENSG00000185697 4603.0 4603.0 7547.0 protein-coding gene gene with protein product 159405 Standard XM_034274 XM_005251251 Approved AMYB, A-myb uc003xwj.3 P10243 OTTHUMG00000164559 ENST00000522677.3:c.1685C>T 8.__UNKNOWN__:g.67484760G>A ENSP00000429633:p.Ala562Val E7EW29|Q495F9 __UNKNOWN__ CCDS47867.1 . . . . . . . . . . G 34 5.321008 0.95682 . . ENSG00000185697 ENST00000522677;ENST00000517885;ENST00000524176 T;T;T 0.51071 0.72;0.72;0.72 5.59 5.59 0.84812 C-myb, C-terminal (1); 0.000000 0.85682 D 0.000000 T 0.74741 0.3756 M 0.87381 2.88 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;0.993;1.0 T 0.77159 -0.2690 10 0.56958 D 0.05 -10.9537 19.961 0.97250 0.0:0.0:1.0:0.0 . 562;561;562 Q495F9;Q495G0;P10243 .;.;MYBA_HUMAN V 562;220;562 ENSP00000429633:A562V;ENSP00000428265:A220V;ENSP00000428011:A562V ENSP00000428265:A220V A - 2 0 MYBL1 67647314 1.000000 0.71417 0.983000 0.44433 0.997000 0.91878 8.519000 0.90563 2.783000 0.95769 0.655000 0.94253 GCG MYBL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000379221.3 - ENST00000522677.3 Missense_Mutation SNP PCPG-TCGA-RW-A67W-Normal-SM-5EQG6 SHF 90525 ucsc.edu 37 15 45464130 45464130 + Missense_Mutation SNP G G C TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr15:45464130G>C ENST00000560734.1 - 3.0 848 SHF_ENST00000458022.2_Missense_Mutation_p.L162V|SHF_ENST00000560471.1_Missense_Mutation_p.P410R|SHF_ENST00000560540.1_Missense_Mutation_p.P363R|SHF_ENST00000290894.8_Missense_Mutation_p.L346V|SHF_ENST00000318390.6_Missense_Mutation_p.L356V|RP11-519G16.2_ENST00000560034.1_RNA Src homology 2 domain containing F endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2) 12.0 all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06) TTGCGCACCAGGTAGCTGGCC 0.592 0 84.0 64.0 71.0 15 45464130.0 2198.0 4298.0 6496.0 SO:0001627 intron_variant BC007586 CCDS10120.2, CCDS73721.1 15q21.1 2013-02-14 ENSG00000138606 ENSG00000138606 90525.0 90525.0 """SH2 domain containing""" 25116.0 protein-coding gene gene with protein product 11095946 Standard NM_138356 NM_138356 Approved uc001zuy.3 Q7M4L6 OTTHUMG00000131353 ENST00000560734.1:c.847+3286C>G 15.__UNKNOWN__:g.45464130G>C __UNKNOWN__ . . . . . . . . . . G 18.12 3.553813 0.65425 . . ENSG00000138606 ENST00000290894;ENST00000318390;ENST00000458022;ENST00000413198 D;D;D 0.84070 -1.8;-1.8;-1.8 4.94 3.81 0.43845 SH2 motif (5); 0.071901 0.56097 D 0.000022 D 0.88962 0.6580 M 0.78637 2.42 0.80722 D 1 D 0.60575 0.988 D 0.63877 0.919 D 0.89687 0.3895 10 0.66056 D 0.02 -3.365 11.4664 0.50241 0.1054:0.0:0.8946:0.0 . 346 Q7M4L6 SHF_HUMAN V 346;356;162;289 ENSP00000290894:L346V;ENSP00000315978:L356V;ENSP00000411530:L162V ENSP00000290894:L346V L - 1 2 SHF 43251422 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 4.133000 0.57983 2.286000 0.76751 0.655000 0.94253 CTG SHF-004 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000416338.1 - ENST00000560734.1 Intron SNP PCPG-TCGA-RW-A67W-Normal-SM-5EQG6 LCE2B 26239 broad.mit.edu 37 1 152659492 152659492 + Missense_Mutation SNP C C A TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr1:152659492C>A ENST00000368780.3 + 2.0 227 c.173C>A c.(172-174)cCc>cAc p.P58H LCE2B_ENST00000417924.2_Missense_Mutation_p.P58H NM_014357.4 NP_055172.1 O14633 LCE2B_HUMAN late cornified envelope 2B 58.0 Cys-rich. epidermis development (GO:0008544)|keratinization (GO:0031424) endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 11.0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGCTGTGGTCCCAGCTCTGGG 0.667 0 103.0 119.0 113.0 1 152659492.0 2203.0 4300.0 6503.0 SO:0001583 missense BI670514 CCDS1020.1 1q21 2008-02-05 2004-10-11 2004-10-15 ENSG00000159455 ENSG00000159455 26239.0 26239.0 """Late cornified envelopes""" 16610.0 protein-coding gene gene with protein product 612610.0 """small proline rich-like (epidermal differentiation complex) 1B""" SPRL1B 11698679, 9344646 Standard NM_014357 NM_014357 Approved LEP10, XP5 uc001fai.3 O14633 OTTHUMG00000012404 ENST00000368780.3:c.173C>A 1.__UNKNOWN__:g.152659492C>A ENSP00000357769:p.Pro58His Q5TA80 __UNKNOWN__ CCDS1020.1 . . . . . . . . . . C 0.171 -1.071260 0.01918 . . ENSG00000159455 ENST00000417924;ENST00000368780 T;T 0.04049 3.72;3.72 2.49 0.482 0.16815 . . . . . T 0.01627 0.0052 L 0.50333 1.59 0.19945 N 0.999943 B 0.20164 0.042 B 0.17098 0.017 T 0.44498 -0.9324 9 0.87932 D 0 . 4.5339 0.12019 0.0:0.6472:0.0:0.3528 . 58 O14633 LCE2B_HUMAN H 58 ENSP00000414043:P58H;ENSP00000357769:P58H ENSP00000357769:P58H P + 2 0 LCE2B 150926116 0.030000 0.19436 0.139000 0.22197 0.053000 0.15095 0.161000 0.16481 -0.140000 0.11394 0.313000 0.20887 CCC LCE2B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000034524.1 + ENST00000368780.3 Missense_Mutation SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA EVPL 2125 broad.mit.edu 37 17 74005109 74005109 + Missense_Mutation SNP C C T TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr17:74005109C>T ENST00000301607.3 - 22.0 4430 c.4177G>A c.(4177-4179)Ggg>Agg p.G1393R EVPL_ENST00000586740.1_Missense_Mutation_p.G1415R NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1393.0 Central fibrous rod domain. epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149) cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198) breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54.0 TCCAGGCTCCCGCTCAGCCGG 0.692 0 48.0 54.0 52.0 17 74005109.0 2194.0 4278.0 6472.0 SO:0001583 missense U53786 CCDS11737.1 17q25 2008-07-18 ENSG00000167880 2125.0 2125.0 3503.0 protein-coding gene gene with protein product 601590.0 8938451, 10409435 Standard NM_001988 NM_001988 Approved EVPK uc002jqi.2 Q92817 ENST00000301607.3:c.4177G>A 17.__UNKNOWN__:g.74005109C>T ENSP00000301607:p.Gly1393Arg A0AUV5 __UNKNOWN__ CCDS11737.1 . . . . . . . . . . C 0.003 -2.471710 0.00167 . . ENSG00000167880 ENST00000301607 T 0.38401 1.14 5.55 1.31 0.21738 . 0.586399 0.17556 N 0.169995 T 0.05318 0.0141 N 0.00112 -2.095 0.18873 N 0.999989 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.36261 -0.9755 10 0.05351 T 0.99 -11.6658 2.8808 0.05646 0.1306:0.1151:0.4031:0.3512 . 1415;1393 B7ZLH8;Q92817 .;EVPL_HUMAN R 1393 ENSP00000301607:G1393R ENSP00000301607:G1393R G - 1 0 EVPL 71516704 0.739000 0.28196 0.276000 0.24689 0.154000 0.21943 1.066000 0.30604 0.047000 0.15862 -0.128000 0.14901 GGG EVPL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000449483.1 - ENST00000301607.3 Missense_Mutation SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA FAT4 79633 broad.mit.edu 37 4 126238672 126238672 + Missense_Mutation SNP A A G TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr4:126238672A>G ENST00000394329.3 + 1.0 1119 c.1106A>G c.(1105-1107)gAg>gGg p.E369G NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 369.0 Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}. branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307) apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) 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) 355.0 TCGGTAGATGAGAATGCTCAA 0.612 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 31.0 36.0 34.0 4 126238672.0 2090.0 4211.0 6301.0 SO:0001583 missense AY356402 CCDS3732.3 4q28.1 2013-05-31 2013-05-31 ENSG00000196159 ENSG00000196159 79633.0 79633.0 """Cadherins / Cadherin-related""" 23109.0 protein-coding gene gene with protein product """cadherin-related family member 11""" 612411.0 """FAT tumor suppressor homolog 4 (Drosophila)""" 15003449 Standard NM_024582 NM_024582 Approved CDHF14, FAT-J, CDHR11 uc003ifj.4 Q6V0I7 OTTHUMG00000133100 ENST00000394329.3:c.1106A>G 4.__UNKNOWN__:g.126238672A>G ENSP00000377862:p.Glu369Gly 1548.0 A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6 __UNKNOWN__ CCDS3732.3 . . . . . . . . . . A 14.40 2.523167 0.44866 . . ENSG00000196159 ENST00000394329 T 0.76316 -1.01 4.59 4.59 0.56863 Cadherin (3);Cadherin-like (1); 0.000000 0.34676 U 0.003761 D 0.92642 0.7662 H 0.99058 4.415 0.80722 D 1 D 0.76494 0.999 D 0.79108 0.992 D 0.95224 0.8336 10 0.66056 D 0.02 . 14.4375 0.67293 1.0:0.0:0.0:0.0 . 369 Q6V0I7 FAT4_HUMAN G 369 ENSP00000377862:E369G ENSP00000377862:E369G E + 2 0 FAT4 126458122 1.000000 0.71417 0.981000 0.43875 0.094000 0.18550 8.892000 0.92491 2.042000 0.60477 0.533000 0.62120 GAG FAT4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256765.2 + ENST00000394329.3 Missense_Mutation SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA KRT37 8688 broad.mit.edu 37 17 39578677 39578677 + Missense_Mutation SNP T T C TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr17:39578677T>C ENST00000225550.3 - 4.0 741 c.742A>G c.(742-744)Att>Gtt p.I248V AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 248.0 Coil 1B.|Rod. extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882) structural molecule activity (GO:0005198) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25.0 Breast(137;0.000496) CTCCTCAGAATCTTTACTTCC 0.557 0 124.0 125.0 125.0 17 39578677.0 2203.0 4300.0 6503.0 SO:0001583 missense Y16793 CCDS32653.1 17q21.2 2013-06-20 2006-07-17 2006-07-17 ENSG00000108417 ENSG00000108417 8688.0 8688.0 """-"", ""Intermediate filaments type I, keratins (acidic)""" 6455.0 protein-coding gene gene with protein product 604541.0 """keratin, hair, acidic, 7""" KRTHA7 9756910, 16831889 Standard NM_003770 NM_003770 Approved uc002hwp.1 O76014 OTTHUMG00000133606 ENST00000225550.3:c.742A>G 17.__UNKNOWN__:g.39578677T>C ENSP00000225550:p.Ile248Val __UNKNOWN__ CCDS32653.1 . . . . . . . . . . . 2.430 -0.331069 0.05314 . . ENSG00000108417 ENST00000225550 D 0.88354 -2.37 4.95 2.58 0.30949 Filament (1); 0.598021 0.14463 N 0.318076 T 0.67505 0.2900 N 0.01761 -0.735 0.09310 N 1 B 0.13145 0.007 B 0.15484 0.013 T 0.56323 -0.7998 10 0.30078 T 0.28 . 1.3481 0.02167 0.3042:0.0866:0.1578:0.4515 . 248 O76014 KRT37_HUMAN V 248 ENSP00000225550:I248V ENSP00000225550:I248V I - 1 0 KRT37 36832203 0.000000 0.05858 0.006000 0.13384 0.970000 0.65996 -2.058000 0.01394 0.182000 0.20032 0.533000 0.62120 ATT KRT37-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257714.2 - ENST00000225550.3 Missense_Mutation SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA CRYGC 1420 broad.mit.edu 37 2 208993026 208993026 + Silent SNP C C T TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr2:208993026C>T ENST00000282141.3 - 3.0 463 c.426G>A c.(424-426)cgG>cgA p.R142R NM_020989.3 NP_066269.1 P07315 CRGC_HUMAN crystallin, gamma C 142.0 Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}. camera-type eye development (GO:0043010)|visual perception (GO:0007601) cytoplasm (GO:0005737)|nucleus (GO:0005634) structural constituent of eye lens (GO:0005212) NS(1)|endometrium(1)|large_intestine(2)|lung(5) 9.0 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) GCAGGTATTGCCGCCCCCGGT 0.622 0 55.0 58.0 57.0 2 208993026.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS2379.1 2q33.3 2013-02-14 ENSG00000163254 ENSG00000163254 1420.0 1420.0 2410.0 protein-coding gene gene with protein product 123680.0 CRYG3 Standard NM_020989 NM_020989 Approved uc002vco.4 P07315 OTTHUMG00000132942 ENST00000282141.3:c.426G>A 2.__UNKNOWN__:g.208993026C>T Q53R50 __UNKNOWN__ CCDS2379.1 CRYGC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256474.1 - ENST00000282141.3 Silent SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA NKTR 4820 broad.mit.edu 37 3 42687435 42687435 + Missense_Mutation SNP C C T TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr3:42687435C>T ENST00000232978.8 + 17.0 4545 c.4357C>T c.(4357-4359)Cgg>Tgg p.R1453W RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer cell triggering receptor 1453.0 protein folding (GO:0006457) membrane (GO:0016020) cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41.0 KIRC - Kidney renal clear cell carcinoma(284;0.24) CTCTCATCACCGGAGCCCCAG 0.353 0 61.0 64.0 63.0 3 42687435.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS2702.1 3p22.1 2014-01-20 2014-01-20 ENSG00000114857 ENSG00000114857 4820.0 4820.0 7833.0 protein-coding gene gene with protein product """NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein""" 161565.0 """natural killer-tumor recognition sequence""" 8314596, 8144875 Standard NM_005385 XM_005265173 Approved p104 uc003clo.3 P30414 OTTHUMG00000133037 ENST00000232978.8:c.4357C>T 3.__UNKNOWN__:g.42687435C>T ENSP00000232978:p.Arg1453Trp __UNKNOWN__ CCDS2702.1 . . . . . . . . . . C 16.33 3.092034 0.55968 . . ENSG00000114857 ENST00000232978 T 0.21734 1.99 5.96 5.08 0.68730 . 0.000000 0.85682 D 0.000000 T 0.45155 0.1328 M 0.66939 2.045 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.999 T 0.45293 -0.9271 10 0.87932 D 0 -9.2383 14.2711 0.66152 0.3829:0.6171:0.0:0.0 . 1153;1453 Q6M1B8;P30414 .;NKTR_HUMAN W 1453 ENSP00000232978:R1453W ENSP00000232978:R1453W R + 1 2 NKTR 42662439 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 1.740000 0.38228 1.509000 0.48786 0.655000 0.94253 CGG NKTR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256642.2 + ENST00000232978.8 Missense_Mutation SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA ZPLD1 131368 broad.mit.edu 37 3 102196341 102196341 + Nonsense_Mutation SNP C C A TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr3:102196341C>A ENST00000491959.1 + 18.0 2009 c.1127C>A c.(1126-1128)tCa>tAa p.S376* ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.S376*|ZPLD1_ENST00000306176.1_Nonsense_Mutation_p.S392* Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 376.0 integral component of membrane (GO:0016021) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35.0 GCACTGATATCAGGAATGGTC 0.473 0 220.0 216.0 217.0 3 102196341.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AY090780 CCDS2947.1 3q12.3 2009-03-25 ENSG00000170044 ENSG00000170044 131368.0 131368.0 27022.0 protein-coding gene gene with protein product 615915.0 18632209 Standard NM_175056 NM_175056 Approved uc003dvt.1 Q8TCW7 OTTHUMG00000159229 ENST00000491959.1:c.1127C>A 3.__UNKNOWN__:g.102196341C>A ENSP00000420265:p.Ser376* Q49AS1|Q8WU36 __UNKNOWN__ . . . . . . . . . . C 38 7.059394 0.98036 . . ENSG00000170044 ENST00000491959;ENST00000306176;ENST00000466937 . . . 5.97 5.09 0.68999 . 0.130110 0.53938 D 0.000049 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 -16.61 15.589 0.76510 0.0:0.9329:0.0:0.0671 . . . . X 376;392;376 . ENSP00000307801:S392X S + 2 0 ZPLD1 103679031 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.454000 0.66651 2.831000 0.97527 0.655000 0.94253 TCA ZPLD1-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000353984.1 + ENST00000491959.1 Nonsense_Mutation SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA LHX1 3975 broad.mit.edu 37 17 35298029 35298029 + Missense_Mutation SNP C C A TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr17:35298029C>A ENST00000254457.5 + 3.0 1931 c.520C>A c.(520-522)Cag>Aag p.Q174K RP11-445F12.2_ENST00000607336.1_RNA NM_005568.3 NP_005559.2 P48742 LHX1_HUMAN LIM homeobox 1 174.0 anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517) nucleus (GO:0005634)|protein complex (GO:0043234) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 16.0 Breast(25;0.00607) GAATGACGACCAGAACCTGGG 0.642 0 47.0 51.0 49.0 17 35298029.0 2203.0 4300.0 6503.0 SO:0001583 missense U14755 CCDS11316.1 17q12 2014-04-11 ENSG00000132130 ENSG00000273706 3975.0 3975.0 """Homeoboxes / LIM class""" 6593.0 protein-coding gene gene with protein product 601999.0 9212161 Standard NM_005568 NM_005568 Approved LIM-1, LIM1 uc002hnh.2 P48742 OTTHUMG00000188456 ENST00000254457.5:c.520C>A 17.__UNKNOWN__:g.35298029C>A ENSP00000254457:p.Gln174Lys Q3MIW0 __UNKNOWN__ CCDS11316.1 . . . . . . . . . . C 18.08 3.544872 0.65198 . . ENSG00000132130 ENST00000254457 D 0.95622 -3.76 4.26 4.26 0.50523 Homeodomain-related (1);Homeodomain-like (1); 0.000000 0.64402 D 0.000001 D 0.93779 0.8011 L 0.55990 1.75 0.80722 D 1 P;D 0.58970 0.629;0.984 B;P 0.47673 0.218;0.554 D 0.91772 0.5428 10 0.06236 T 0.91 . 17.9822 0.89145 0.0:1.0:0.0:0.0 . 160;174 B4DPA6;P48742 .;LHX1_HUMAN K 174 ENSP00000254457:Q174K ENSP00000254457:Q174K Q + 1 0 LHX1 32372142 1.000000 0.71417 1.000000 0.80357 0.979000 0.70002 5.809000 0.69172 2.648000 0.89879 0.561000 0.74099 CAG LHX1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000256704.3 + ENST00000254457.5 Missense_Mutation SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA LRP1 4035 broad.mit.edu 37 12 57554807 57554807 + Missense_Mutation SNP T T C TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr12:57554807T>C ENST00000243077.3 + 13.0 2577 c.2111T>C c.(2110-2112)cTa>cCa p.L704P NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 704.0 aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872) 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) 184.0 BRCA - Breast invasive adenocarcinoma(357;0.0103) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCCAATGGGCTAAGCCTGGAC 0.617 0 159.0 145.0 150.0 12 57554807.0 2203.0 4300.0 6503.0 SO:0001583 missense X13916 CCDS8932.1 12q13.3 2013-05-28 2010-01-26 ENSG00000123384 ENSG00000123384 4035.0 4035.0 """CD molecules"", ""Low density lipoprotein receptors""" 6692.0 protein-coding gene gene with protein product 107770.0 """alpha-2-macroglobulin receptor""" APR, A2MR 2548950 Standard NM_002332 NM_002332 Approved LRP, CD91, LRP1A, APOER uc001snd.3 Q07954 OTTHUMG00000044412 ENST00000243077.3:c.2111T>C 12.__UNKNOWN__:g.57554807T>C ENSP00000243077:p.Leu704Pro Q2PP12|Q86SW0|Q8IVG8 __UNKNOWN__ CCDS8932.1 . . . . . . . . . . T 17.49 3.402943 0.62288 . . ENSG00000123384 ENST00000243077 D 0.97598 -4.45 5.19 5.19 0.71726 Six-bladed beta-propeller, TolB-like (1); 0.000000 0.56097 D 0.000040 D 0.98871 0.9618 H 0.96208 3.785 0.80722 D 1 D 0.89917 1.0 D 0.77557 0.99 D 0.99457 1.0942 10 0.87932 D 0 . 13.3416 0.60549 0.0:0.0:0.0:1.0 . 704 Q07954 LRP1_HUMAN P 704 ENSP00000243077:L704P ENSP00000243077:L704P L + 2 0 LRP1 55841074 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 7.868000 0.87116 2.317000 0.78254 0.460000 0.39030 CTA LRP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000412772.2 + ENST00000243077.3 Missense_Mutation SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA BVES 11149 broad.mit.edu 37 6 105573335 105573335 + Missense_Mutation SNP T T C TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr6:105573335T>C ENST00000314641.5 - 4.0 686 c.470A>G c.(469-471)aAg>aGg p.K157R BVES_ENST00000446408.2_Missense_Mutation_p.K157R|BVES_ENST00000336775.5_Missense_Mutation_p.K157R NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance 157.0 epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192) integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923) cAMP binding (GO:0030552)|structural molecule activity (GO:0005198) p.K157R(1) NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21.0 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) AGTTTGGCCCTTTTTCAAGGT 0.438 1 Substitution - Missense(1) prostate(1) T ARG/LYS,ARG/LYS,ARG/LYS 0,4406 0,0,2203 160.0 160.0 160.0 470,470,470 3.3 1.0 6 160.0 1,8599 0,1,4299 no missense,missense,missense BVES NM_147147.3,NM_007073.4,NM_001199563.1 26,26,26 0,1,6502 CC,CT,TT 0.0116,0.0,0.0077 benign,benign,benign 157/361,157/361,157/361 105573335.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AF124512 CCDS5051.1 6q21 2008-11-25 ENSG00000112276 ENSG00000112276 11149.0 11149.0 1152.0 protein-coding gene gene with protein product """popeye domain containing 1""" 604577.0 10441744, 10882522 Standard NM_147147 NM_147147 Approved HBVES, POP1, POPDC1 uc003pqx.3 Q8NE79 OTTHUMG00000015291 ENST00000314641.5:c.470A>G 6.__UNKNOWN__:g.105573335T>C ENSP00000313172:p.Lys157Arg A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6 __UNKNOWN__ CCDS5051.1 . . . . . . . . . . T 11.10 1.540510 0.27563 0.0 1.16E-4 ENSG00000112276 ENST00000314641;ENST00000336775;ENST00000446408 T;T;T 0.31510 1.49;1.49;1.49 5.76 3.34 0.38264 Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1); 0.130282 0.64402 N 0.000002 T 0.07638 0.0192 L 0.31845 0.965 0.39124 D 0.961725 B 0.14438 0.01 B 0.13407 0.009 T 0.12528 -1.0544 10 0.13470 T 0.59 -15.0112 6.8871 0.24208 0.0:0.148:0.1607:0.6914 . 157 Q8NE79 POPD1_HUMAN R 157 ENSP00000313172:K157R;ENSP00000337259:K157R;ENSP00000397310:K157R ENSP00000313172:K157R K - 2 0 BVES 105680028 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 2.676000 0.46883 1.016000 0.39470 0.533000 0.62120 AAG BVES-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406075.1 - ENST00000314641.5 Missense_Mutation SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA ATP11B 23200 broad.mit.edu 37 3 182614548 182614548 + Missense_Mutation SNP G G A TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr3:182614548G>A ENST00000323116.5 + 26.0 3303 c.3043G>A c.(3043-3045)Gta>Ata p.V1015I NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 1015.0 aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) 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) 41.0 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) TACAGTCACAGTAAAGGTATG 0.333 0 230.0 225.0 227.0 3 182614548.0 2203.0 4299.0 6502.0 SO:0001583 missense AF156548 CCDS33896.1 3q27 2010-04-20 2007-09-19 ENSG00000058063 ENSG00000058063 23200.0 23200.0 """ATPases / P-type""" 13553.0 protein-coding gene gene with protein product 605869.0 """ATPase, Class VI, type 11B""" 10231032, 11015572 Standard NM_014616 NM_014616 Approved ATPIF, ATPIR, KIAA0956 uc003flb.3 Q9Y2G3 OTTHUMG00000158295 ENST00000323116.5:c.3043G>A 3.__UNKNOWN__:g.182614548G>A ENSP00000321195:p.Val1015Ile Q96FN1|Q9UKK7 __UNKNOWN__ CCDS33896.1 . . . . . . . . . . G 13.89 2.372406 0.42003 . . ENSG00000058063 ENST00000323116;ENST00000482070 T;T 0.39997 1.05;1.05 5.66 5.66 0.87406 . 0.436377 0.24864 N 0.034986 T 0.19967 0.0480 N 0.03983 -0.305 0.80722 D 1 B;B 0.02656 0.0;0.0 B;B 0.06405 0.002;0.0 T 0.07501 -1.0769 10 0.56958 D 0.05 . 7.4075 0.27000 0.1999:0.0:0.8001:0.0 . 589;1015 B3KSJ2;Q9Y2G3 .;AT11B_HUMAN I 1015;230 ENSP00000321195:V1015I;ENSP00000417124:V230I ENSP00000321195:V1015I V + 1 0 ATP11B 184097242 0.998000 0.40836 1.000000 0.80357 0.966000 0.64601 1.144000 0.31565 2.663000 0.90544 0.557000 0.71058 GTA ATP11B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350598.1 + ENST00000323116.5 Missense_Mutation SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA FLG 2312 broad.mit.edu 37 1 152282306 152282307 + Missense_Mutation DNP GG GG TT TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr1:152282306_152282307GG>TT ENST00000368799.1 - 3.0 5090_5091 c.5055_5056CC>AA c.(5053-5058)caCCag>caAAag p.1685_1686HQ>QK FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1685.0 Ser-rich. establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275) cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198) 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) 424.0 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGACTGCTGGTGGCGGGATC 0.569 Ichthyosis 0 SO:0001583 missense Familial Cancer Database X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris XM_048104 CCDS30860.1 1q21.3 2013-01-10 ENSG00000143631 ENSG00000143631 2312.0 2312.0 """EF-hand domain containing""" 3748.0 protein-coding gene gene with protein product 135940.0 2740331, 2248957, 16444271 Standard NM_002016 NM_002016 Approved uc001ezu.1 P20930 OTTHUMG00000012202 ENST00000368799.1:c.5055_5056delinsTT 1.__UNKNOWN__:g.152282306_152282307delinsTT ENSP00000357789:p.H1685_Q1686delinsQK Q01720|Q5T583|Q9UC71 __UNKNOWN__ CCDS30860.1 FLG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033742.1 - ENST00000368799.1 Missense_Mutation DNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA SLC9A3 6550 broad.mit.edu 37 5 482200 482200 + Missense_Mutation SNP C C T TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr5:482200C>T ENST00000264938.3 - 8.0 1438 c.1429G>A c.(1429-1431)Gag>Aag p.E477K SLC9A3_ENST00000514375.1_Missense_Mutation_p.E468K NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 477.0 ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385) 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) 37.0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TGCAGCTTCTCGTTGAGCCGA 0.682 0 36.0 34.0 34.0 5 482200.0 2202.0 4299.0 6501.0 SO:0001583 missense CCDS3855.1, CCDS64116.1 5p15.3 2013-05-22 2012-03-22 ENSG00000066230 ENSG00000066230 6550.0 6550.0 """Solute carriers""" 11073.0 protein-coding gene gene with protein product 182307.0 """solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3""" NHE3 8096830 Standard NM_004174 NM_004174 Approved uc003jbe.2 P48764 OTTHUMG00000090315 ENST00000264938.3:c.1429G>A 5.__UNKNOWN__:g.482200C>T ENSP00000264938:p.Glu477Lys B7ZKR2|E9PF67|Q3MIW3 __UNKNOWN__ CCDS3855.1 . . . . . . . . . . C 18.80 3.701188 0.68501 . . ENSG00000066230 ENST00000264938;ENST00000514375 T;T 0.59772 0.67;0.24 4.0 4.0 0.46444 . 0.118078 0.56097 D 0.000022 T 0.78097 0.4230 M 0.86502 2.82 0.53688 D 0.999977 D;D 0.89917 1.0;1.0 D;D 0.68765 0.96;0.96 D 0.83859 0.0267 10 0.87932 D 0 . 16.0686 0.80907 0.0:1.0:0.0:0.0 . 468;477 E9PF67;P48764 .;SL9A3_HUMAN K 477;468 ENSP00000264938:E477K;ENSP00000422983:E468K ENSP00000264938:E477K E - 1 0 SLC9A3 535200 1.000000 0.71417 0.983000 0.44433 0.244000 0.25665 5.617000 0.67716 1.942000 0.56320 0.555000 0.69702 GAG SLC9A3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000206677.2 - ENST00000264938.3 Missense_Mutation SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA CNTNAP4 85445 broad.mit.edu 37 16 76569593 76569593 + Silent SNP C C T TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr16:76569593C>T ENST00000476707.1 + 17.0 3055 c.2916C>T c.(2914-2916)tgC>tgT p.C972C CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.C896C|CNTNAP4_ENST00000377504.4_Silent_p.C920C|CNTNAP4_ENST00000307431.8_Silent_p.C968C Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 969.0 EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}. cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228) cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734) 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) 64.0 GGAAGTTATGCCGCAATGGAG 0.498 0 67.0 73.0 71.0 16 76569593.0 2108.0 4252.0 6360.0 SO:0001819 synonymous_variant AB051550 CCDS10924.1, CCDS10924.2, CCDS73915.1 16q23.1 2008-02-05 ENSG00000152910 ENSG00000152910 85445.0 85445.0 18747.0 protein-coding gene gene with protein product 610518.0 12093160 Standard NM_033401 NM_033401 Approved CASPR4, KIAA1763 uc010chb.1 Q9C0A0 OTTHUMG00000137617 ENST00000476707.1:c.2916C>T 16.__UNKNOWN__:g.76569593C>T E9PFZ6|Q86YZ7 __UNKNOWN__ CNTNAP4-005 PUTATIVE basic protein_coding protein_coding OTTHUMT00000348216.1 + ENST00000476707.1 Silent SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA TEKT1 83659 broad.mit.edu 37 17 6704168 6704168 + Missense_Mutation SNP C C T TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr17:6704168C>T ENST00000338694.2 - 7.0 1076 c.947G>A c.(946-948)cGc>cAc p.R316H TEKT1_ENST00000535086.1_Missense_Mutation_p.R170H NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 316.0 cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20.0 Myeloproliferative disorder(207;0.0255) GGTCTCCAAGCGCGTATGAGC 0.507 OREG0024124 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 210.0 197.0 202.0 17 6704168.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS11083.1 17p13.2 2011-05-23 ENSG00000167858 ENSG00000167858 83659.0 83659.0 15534.0 protein-coding gene gene with protein product 609002.0 11606253 Standard NM_053285 NM_053285 Approved uc002gdt.3 Q969V4 OTTHUMG00000102063 ENST00000338694.2:c.947G>A 17.__UNKNOWN__:g.6704168C>T ENSP00000341346:p.Arg316His 636.0 D3DTM7 __UNKNOWN__ CCDS11083.1 . . . . . . . . . . C 25.0 4.590219 0.86851 . . ENSG00000167858 ENST00000338694;ENST00000535086 T;T 0.26660 1.72;1.72 5.85 5.85 0.93711 . 0.051026 0.85682 D 0.000000 T 0.64594 0.2612 H 0.94385 3.53 0.58432 D 0.999999 D 0.89917 1.0 D 0.97110 1.0 T 0.73461 -0.3975 10 0.87932 D 0 . 18.0364 0.89305 0.0:1.0:0.0:0.0 . 316 Q969V4 TEKT1_HUMAN H 316;170 ENSP00000341346:R316H;ENSP00000444142:R170H ENSP00000341346:R316H R - 2 0 TEKT1 6644892 1.000000 0.71417 1.000000 0.80357 0.594000 0.36715 5.523000 0.67099 2.941000 0.99782 0.655000 0.94253 CGC TEKT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000219867.2 - ENST00000338694.2 Missense_Mutation SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA GALNT13 114805 broad.mit.edu 37 2 155102328 155102328 + Silent SNP A A G TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr2:155102328A>G ENST00000392825.3 + 7.0 1257 c.690A>G c.(688-690)aaA>aaG p.K230K GALNT13_ENST00000409237.1_Silent_p.K230K NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN polypeptide N-acetylgalactosaminyltransferase 13 230.0 cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) 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) 65.0 TCTGCAGGAAAACGGTTGTCT 0.318 0 115.0 114.0 114.0 2 155102328.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB067505 CCDS2199.1 2q24.1 2014-03-13 2014-03-13 ENSG00000144278 ENSG00000144278 114805.0 114805.0 2.4.1.41 """Glycosyltransferase family 2 domain containing""" 23242.0 protein-coding gene gene with protein product """UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13""" 608369.0 """UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)""" 11572484, 12407114 Standard NM_052917 XM_005246267 Approved KIAA1918, GalNAc-T13 uc002tyr.4 Q8IUC8 OTTHUMG00000131917 ENST00000392825.3:c.690A>G 2.__UNKNOWN__:g.155102328A>G Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5 __UNKNOWN__ CCDS2199.1 GALNT13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254870.2 + ENST00000392825.3 Silent SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA MUM1 84939 broad.mit.edu 37 19 1373090 1373090 + Missense_Mutation SNP C C G TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr19:1373090C>G ENST00000415183.3 + 13.0 2192 c.2166C>G c.(2164-2166)ctC>ctG p.L722L MUM1_ENST00000591806.1_Missense_Mutation_p.S670C|MUM1_ENST00000591453.1_3'UTR|MUM1_ENST00000344663.3_Missense_Mutation_p.S670C|MUM1_ENST00000311401.5_Missense_Mutation_p.S601C Q2TAK8 MUM1_HUMAN melanoma associated antigen (mutated) 1 0.0 chromatin organization (GO:0006325)|DNA repair (GO:0006281) nucleus (GO:0005634) nucleosome binding (GO:0031491) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18.0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGTGCGATCTCTGCGGTGGAC 0.632 0 116.0 90.0 99.0 19 1373090.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK075241 CCDS12062.1 19p13.3 2008-02-05 ENSG00000160953 84939.0 84939.0 29641.0 protein-coding gene gene with protein product 11042152, 7644523 Standard NM_032853 NM_032853 Approved MUM-1 uc002lrz.2 Q2TAK8 ENST00000415183.3:c.2166C>G 19.__UNKNOWN__:g.1373090C>G A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67 __UNKNOWN__ . . . . . . . . . . C 18.39 3.612629 0.66672 . . ENSG00000160953 ENST00000344663;ENST00000311401 T;T 0.55052 0.54;0.54 4.47 4.47 0.54385 . 0.403617 0.27495 N 0.019102 T 0.70064 0.3181 M 0.65498 2.005 0.25075 N 0.990967 D;D 0.76494 0.999;0.999 D;P 0.68353 0.957;0.855 T 0.64635 -0.6361 10 0.87932 D 0 . 16.9872 0.86342 0.0:1.0:0.0:0.0 . 601;669 Q2TAK8-2;Q2TAK8 .;MUM1_HUMAN C 670;601 ENSP00000345789:S670C;ENSP00000309135:S601C ENSP00000309135:S601C S + 2 0 MUM1 1324090 0.795000 0.28851 0.007000 0.13788 0.657000 0.38888 6.094000 0.71431 2.417000 0.82017 0.455000 0.32223 TCT MUM1-016 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000449510.1 + ENST00000415183.3 Silent SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA KL 9365 broad.mit.edu 37 13 33635727 33635727 + Silent SNP G G A rs36012519 byFrequency TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr13:33635727G>A ENST00000380099.3 + 4.0 2519 c.2511G>A c.(2509-2511)acG>acA p.T837T KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 837.0 Glycosyl hydrolase-1 2. acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499) breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41.0 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CCGACATCACGTGGCTCAACT 0.473 0 G 0,4406 0,0,2203 92.0 91.0 91.0 2511 -12.1 0.0 13 dbSNP_126 91.0 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous KL NM_004795.3 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 837/1013 33635727.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB005142 CCDS9347.1 13q12 2008-02-05 ENSG00000133116 ENSG00000133116 9365.0 9365.0 6344.0 protein-coding gene gene with protein product 604824.0 9464267 Standard NM_004795 Approved uc001uus.3 Q9UEF7 OTTHUMG00000017408 ENST00000380099.3:c.2511G>A 13.__UNKNOWN__:g.33635727G>A Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0 __UNKNOWN__ CCDS9347.1 KL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045987.1 + ENST00000380099.3 Silent SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA CYP2C9 1559 broad.mit.edu 37 10 96702050 96702050 + Missense_Mutation SNP G G A TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr10:96702050G>A ENST00000260682.6 + 3.0 445 c.433G>A c.(433-435)Gtt>Att p.V145I CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 145.0 arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231) (R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395) breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34.0 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198) TGAGGACCGTGTTCAAGAGGA 0.493 Ovarian(54;1266 1406 16072 35076) 0 156.0 147.0 150.0 10 96702050.0 2203.0 4297.0 6500.0 SO:0001583 missense M61855 CCDS7437.1 10q24.1 2007-12-14 2003-01-14 ENSG00000138109 ENSG00000138109 1559.0 1559.0 """Cytochrome P450s""" 2623.0 protein-coding gene gene with protein product 601130.0 """cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9""" CYP2C10 2009263, 7841444 Standard NM_000771 NM_000771 Approved P450IIC9 uc001kka.4 P11712 OTTHUMG00000018805 ENST00000260682.6:c.433G>A 10.__UNKNOWN__:g.96702050G>A ENSP00000260682:p.Val145Ile P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80 __UNKNOWN__ CCDS7437.1 . . . . . . . . . . . 1.679 -0.507087 0.04231 . . ENSG00000138109 ENST00000545448;ENST00000260682 T 0.69175 -0.38 3.54 -1.16 0.09678 . 0.078591 0.48767 U 0.000164 T 0.34658 0.0905 N 0.04260 -0.245 0.27866 N 0.940223 B;B;B 0.14805 0.011;0.011;0.011 B;B;B 0.28638 0.019;0.019;0.092 T 0.38045 -0.9679 10 0.02654 T 1 . 7.8522 0.29462 0.5606:0.0:0.4394:0.0 . 145;145;145 Q5VX92;P11712;Q8WW80 .;CP2C9_HUMAN;. I 145 ENSP00000260682:V145I ENSP00000260682:V145I V + 1 0 CYP2C9 96692040 0.093000 0.21703 0.078000 0.20375 0.840000 0.47671 0.495000 0.22483 -0.373000 0.07979 0.484000 0.47621 GTT CYP2C9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049501.1 + ENST00000260682.6 Missense_Mutation SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA DCC 1630 broad.mit.edu 37 18 50734159 50734159 + Silent SNP T T C TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr18:50734159T>C ENST00000581580.1 + 8.0 1063 c.798T>C c.(796-798)gaT>gaC p.D266D DCC_ENST00000412726.1_Silent_p.D459D|DCC_ENST00000442544.2_Silent_p.D611D P43146 DCC_HUMAN DCC netrin 1 receptor 611.0 Ig-like C2-type 3. anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965) axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888) 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) 148.0 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCTCTACTGATGATATAACAG 0.348 0 133.0 138.0 136.0 18 50734159.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X76132 CCDS11952.1 18q21.1 2014-06-20 2014-06-20 ENSG00000187323 ENSG00000187323 1630.0 1630.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 2701.0 protein-coding gene gene with protein product """immunoglobulin superfamily, DCC subclass, member 1""" 120470.0 """deleted in colorectal carcinoma""" 2294591, 24400119 Standard NM_005215 NM_005215 Approved IGDCC1, NTN1R1 uc002lfe.2 P43146 OTTHUMG00000132698 ENST00000581580.1:c.798T>C 18.__UNKNOWN__:g.50734159T>C __UNKNOWN__ DCC-011 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000447776.2 + ENST00000581580.1 Silent SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA ZNF70 7621 broad.mit.edu 37 22 24087097 24087097 + Silent SNP T T C TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr22:24087097T>C ENST00000341976.3 - 2.0 691 c.231A>G c.(229-231)caA>caG p.Q77Q NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 77.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21.0 GGGGGATACTTTGATGCTGAA 0.493 0 135.0 132.0 133.0 22 24087097.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X60077 CCDS13812.1 22q11.23 2013-01-08 2006-05-12 ENSG00000187792 ENSG00000187792 7621.0 7621.0 """Zinc fingers, C2H2-type""" 13140.0 protein-coding gene gene with protein product 194544.0 """zinc finger protein 70 (Cos17)""" 1639391 Standard NM_021916 NM_021916 Approved Cos17, MGC48959 uc002zxs.3 Q9UC06 OTTHUMG00000150739 ENST00000341976.3:c.231A>G 22.__UNKNOWN__:g.24087097T>C __UNKNOWN__ CCDS13812.1 ZNF70-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000319881.1 - ENST00000341976.3 Silent SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA ANAPC11 51529 broad.mit.edu 37 17 79857351 79857351 + Missense_Mutation SNP C C A TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr17:79857351C>A ENST00000575195.2 + 2.0 289 ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000572639.1_Intron|ANAPC11_ENST00000357385.3_Missense_Mutation_p.L115I|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000579978.1_Intron Q9NYG5 APC11_HUMAN anaphase promoting complex subunit 11 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) kidney(1)|lung(1) 2.0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TCCTTGGTGCCTTGACCATTC 0.542 0 123.0 104.0 111.0 17 79857351.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AF247565 CCDS11789.1, CCDS32769.1, CCDS74180.1 17q25.3 2011-06-15 2008-10-30 ENSG00000141552 51529.0 51529.0 """Anaphase promoting complex subunits""" 14452.0 protein-coding gene gene with protein product 614534.0 """anaphase promoting complex subunit 11 (yeast APC11 homolog)""" 10922056 Standard NM_016476 NM_001002245 Approved HSPC214, APC11, Apc11p, MGC882 uc002kby.1 Q9NYG5 ENST00000575195.2:c.110-445C>A 17.__UNKNOWN__:g.79857351C>A A8MTT2|B7ZW64|Q502X9|Q9BW64|Q9P0R2 __UNKNOWN__ CCDS11789.1 . . . . . . . . . . C 13.87 2.366922 0.41902 . . ENSG00000141552 ENST00000357385 . . . 1.93 0.564 0.17302 . . . . . T 0.23766 0.0575 . . . 0.09310 N 1 P 0.36354 0.549 B 0.34779 0.189 T 0.19095 -1.0316 7 0.66056 D 0.02 -26.5647 3.3237 0.07059 0.0:0.5897:0.0:0.4103 . 115 Q9NYG5-2 . I 115 . ENSP00000349957:L115I L + 1 0 ANAPC11 77450643 0.002000 0.14202 0.000000 0.03702 0.347000 0.29111 -0.224000 0.09164 0.174000 0.19809 0.462000 0.41574 CTT ANAPC11-007 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000440106.2 + ENST00000575195.2 Intron SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA ADAMTS3 9508 broad.mit.edu 37 4 73280586 73280586 + Nonsense_Mutation SNP T T A TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr4:73280586T>A ENST00000286657.4 - 4.0 643 c.607A>T c.(607-609)Aga>Tga p.R203* NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 203.0 collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) 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) 76.0 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) ACAGCTGATCTCTTGTAGACA 0.363 NSCLC(168;1941 2048 2918 13048 43078) 0 168.0 162.0 164.0 4 73280586.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AB002364 CCDS3553.1 4q21 2008-07-29 2005-08-19 ENSG00000156140 ENSG00000156140 9508.0 9508.0 3.4.24.- """ADAM metallopeptidases with thrombospondin type 1 motif""" 219.0 protein-coding gene gene with protein product 605011.0 """a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3""" 10094461 Standard NM_014243 Approved KIAA0366, ADAMTS-4 uc003hgk.2 O15072 OTTHUMG00000129912 ENST00000286657.4:c.607A>T 4.__UNKNOWN__:g.73280586T>A ENSP00000286657:p.Arg203* A1L3U9|Q9BXZ8 __UNKNOWN__ CCDS3553.1 . . . . . . . . . . T 37 6.200075 0.97371 . . ENSG00000156140 ENST00000286657 . . . 5.16 5.16 0.70880 . 0.000000 0.64402 D 0.000020 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 10.9151 0.47131 0.0:0.0:0.169:0.831 . . . . X 203 . ENSP00000286657:R203X R - 1 2 ADAMTS3 73499450 1.000000 0.71417 1.000000 0.80357 0.941000 0.58515 2.773000 0.47686 1.937000 0.56155 0.533000 0.62120 AGA ADAMTS3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252164.2 - ENST00000286657.4 Nonsense_Mutation SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA VHL 7428 broad.mit.edu 37 3 10188230 10188231 + In_Frame_Ins INS - - ACG TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr3:10188230_10188231insACG ENST00000256474.2 + 2.0 1213_1214 c.373_374insACG c.(373-375)cac>cACGac p.126_127insD VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 126.0 Involved in binding to CCT complex. D -> Y (in ECYT2). {ECO:0000269|PubMed:12393546}. cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842) p.H125fs*6(1)|p.H125fs*34(1)|p.R120fs*34(1)|p.H125fs*27(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769.0 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) TGCAGGGACACACGATGGGCTT 0.5 1.0 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia yes Rec yes von Hippel-Lindau syndrome 3 3p25 7428.0 von Hippel-Lindau syndrome gene """E, M, O""" 4 Deletion - Frameshift(4) kidney(4) GRCh37 CI071465 VHL I SO:0001652 inframe_insertion Familial Cancer Database VHL; ;Erythrocytosis, Familial type 2 L15409 CCDS2597.1, CCDS2598.1 3p25.3 2014-09-17 2012-02-23 ENSG00000134086 ENSG00000134086 7428.0 7428.0 12687.0 protein-coding gene gene with protein product 608537.0 """von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor""" 9671762 Standard NM_000551 NM_000551 Approved VHL1 uc003bvc.3 P40337 OTTHUMG00000128668 ENST00000256474.2:c.374_376dupACG 3.__UNKNOWN__:g.10188231_10188233dupACG ENSP00000256474:p.Asp126_Asp126dup B2RE45|Q13599|Q6PDA9 __UNKNOWN__ CCDS2597.1 VHL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250559.1 + ENST00000256474.2 In_Frame_Ins INS PCPG-TCGA-RW-A67X-Normal-SM-5EQGA ERCC3 2071 bcgsc.ca 37 2 128050333 128050333 + Silent SNP G G A TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr2:128050333G>A ENST00000285398.2 - 3.0 418 c.324C>T c.(322-324)tgC>tgT p.C108C ERCC3_ENST00000493187.2_Silent_p.C44C NM_000122.1 NP_000113.1 P19447 ERCC3_HUMAN excision repair cross-complementation group 3 108.0 7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032) holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) 3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31.0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) GGGTTGGTCGGCACACTGGCT 0.507 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum yes Rec Xeroderma pigmentosum (B) 2 2q21 2071.0 """excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)""" E 0 107.0 95.0 99.0 2 128050333.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant Familial Cancer Database incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV M31899 CCDS2144.1 2q21 2014-09-17 2014-03-07 ENSG00000163161 ENSG00000163161 2071.0 2071.0 """General transcription factors"", ""General transcription factor IIH complex subunits""" 3435.0 protein-coding gene gene with protein product """xeroderma pigmentosum group B complementing""" 133510 """excision repair cross-complementing rodent repair deficiency, complementation group 3""" 8202161 Standard NM_000122 NM_000122 Approved XPB, BTF2, RAD25, TFIIH, GTF2H uc002toh.1 P19447 OTTHUMG00000131530 ENST00000285398.2:c.324C>T 2.__UNKNOWN__:g.128050333G>A Q53QM0 __UNKNOWN__ CCDS2144.1 ERCC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000331028.1 - ENST00000285398.2 Silent SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA Unknown 138412 bcgsc.ca 37 9 31254470 31254470 + RNA SNP C C T TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr9:31254470C>T AL590726.1 (480153 upstream) : RP11-271O3.1 (117138 downstream) GTGTACGATACGGCCAATGGC 0.612 0 SO:0001628 intergenic_variant 9.__UNKNOWN__:g.31254470C>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA DGAT2 84649 ucsc.edu 37 11 75508371 75508371 + Missense_Mutation SNP G G A TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr11:75508371G>A ENST00000228027.7 + 6.0 1063 c.803G>A c.(802-804)cGt>cAt p.R268H DGAT2_ENST00000376262.3_Missense_Mutation_p.R225H NM_032564.4 NP_115953.2 Q96PD7 DGAT2_HUMAN diacylglycerol O-acyltransferase 2 268.0 acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471) 2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252) endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2) 17.0 Ovarian(111;0.103) CTGGCCCTGCGTCATGGGTGA 0.627 Melanoma(35;811 1096 8354 24009 39363) 0 90.0 79.0 83.0 11 75508371.0 2200.0 4293.0 6493.0 SO:0001583 missense CCDS31642.1, CCDS58162.1 11q13.3 2010-06-24 2010-06-24 ENSG00000062282 ENSG00000062282 84649.0 84649.0 16940.0 protein-coding gene gene with protein product 606983 """diacylglycerol O-acyltransferase homolog 2 (mouse)""" 11481335, 14970677 Standard NM_032564 NM_032564 Approved uc001oxa.3 Q96PD7 OTTHUMG00000165338 ENST00000228027.7:c.803G>A 11.__UNKNOWN__:g.75508371G>A ENSP00000228027:p.Arg268His A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5 __UNKNOWN__ CCDS31642.1 . . . . . . . . . . G 21.6 4.173284 0.78452 . . ENSG00000062282 ENST00000228027;ENST00000376262;ENST00000525612 T;T 0.14893 2.47;2.47 5.99 5.08 0.68730 . 0.099482 0.64402 D 0.000001 T 0.29882 0.0747 L 0.48935 1.535 0.44330 D 0.997216 D;D 0.62365 0.991;0.986 P;P 0.61397 0.888;0.703 T 0.02156 -1.1204 10 0.66056 D 0.02 -15.4717 10.459 0.44567 0.1496:0.0:0.8504:0.0 . 225;268 Q96PD7-2;Q96PD7 .;DGAT2_HUMAN H 268;225;222 ENSP00000228027:R268H;ENSP00000365438:R225H ENSP00000228027:R268H R + 2 0 DGAT2 75186019 1.000000 0.71417 1.000000 0.80357 0.959000 0.62525 2.277000 0.43417 1.554000 0.49487 0.655000 0.94253 CGT DGAT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000383506.1 + ENST00000228027.7 Missense_Mutation SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA KDM2A 22992 ucsc.edu 37 11 67022350 67022350 + Missense_Mutation SNP A A G TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr11:67022350A>G ENST00000529006.2 + 21.0 3759 c.3313A>G c.(3313-3315)Aat>Gat p.N1105D KDM2A_ENST00000308783.5_Missense_Mutation_p.N563D|KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.N666D|KDM2A_ENST00000526258.1_3'UTR NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 1105.0 histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634) histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270) NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36.0 GACAGGTTGCAATAAATTGAC 0.478 0 87.0 84.0 85.0 11 67022350.0 2024.0 4194.0 6218.0 SO:0001583 missense BC047486 CCDS44657.1, CCDS58148.1 11q13.1 2014-02-18 2009-04-06 2009-04-06 ENSG00000173120 ENSG00000173120 22992.0 22992.0 """F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases""" 13606.0 protein-coding gene gene with protein product """F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A""" 605657 """F-box and leucine-rich repeat protein 11""" FBXL11 10231032, 10531037 Standard NM_012308 NM_012308 Approved KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A uc001ojw.3 Q9Y2K7 OTTHUMG00000167103 ENST00000529006.2:c.3313A>G 11.__UNKNOWN__:g.67022350A>G ENSP00000432786:p.Asn1105Asp D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66 __UNKNOWN__ CCDS44657.1 . . . . . . . . . . A 20.8 4.051375 0.75960 . . ENSG00000173120 ENST00000529006;ENST00000530342;ENST00000308783 T;T;T 0.32272 1.46;1.46;1.46 5.32 5.32 0.75619 . 0.049842 0.85682 D 0.000000 T 0.29783 0.0744 L 0.45352 1.415 0.45883 D 0.99873 P;P 0.42649 0.786;0.61 B;B 0.41860 0.368;0.145 T 0.02813 -1.1107 10 0.24483 T 0.36 -20.5175 15.4479 0.75248 1.0:0.0:0.0:0.0 . 666;1105 E9PIL6;Q9Y2K7 .;KDM2A_HUMAN D 1105;666;563 ENSP00000432786:N1105D;ENSP00000435776:N666D;ENSP00000309302:N563D ENSP00000309302:N563D N + 1 0 KDM2A 66778926 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 6.835000 0.75344 2.228000 0.72767 0.533000 0.62120 AAT KDM2A-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393140.2 + ENST00000529006.2 Missense_Mutation SNP PCPG-TCGA-RW-A67X-Normal-SM-5EQGA UGT2B17 7367 broad.mit.edu 37 4 69403499 69403499 + Silent SNP G G C TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr4:69403499G>C ENST00000317746.2 - 6.0 1479 c.1437C>G c.(1435-1437)gtC>gtG p.V479V NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 479.0 cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020) glucuronosyltransferase activity (GO:0015020) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30.0 Losartan(DB00678) TGTGGGCTGCGACCCGAAGGT 0.483 Melanoma(18;649 833 28984 37818 38500) 0 118.0 106.0 110.0 4 69403499.0 2092.0 3941.0 6033.0 SO:0001819 synonymous_variant U59209 CCDS3523.1 4q13 2008-02-05 2005-07-20 ENSG00000197888 ENSG00000197888 7367.0 7367.0 """UDP glucuronosyltransferases""" 12547.0 protein-coding gene gene with protein product 601903.0 """UDP glycosyltransferase 2 family, polypeptide B17""" 8798464 Standard NM_001077 NM_001077 Approved uc021xov.1 O75795 OTTHUMG00000129305 ENST00000317746.2:c.1437C>G 4.__UNKNOWN__:g.69403499G>C __UNKNOWN__ CCDS3523.1 UGT2B17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251436.1 - ENST00000317746.2 Silent SNP PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH USO1 8615 broad.mit.edu 37 4 76721883 76721883 + Missense_Mutation SNP C C G TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr4:76721883C>G ENST00000538159.1 + 17.0 1822 c.1822C>G c.(1822-1824)Cca>Gca p.P608A USO1_ENST00000514213.2_Missense_Mutation_p.P584A O60763 USO1_HUMAN USO1 vesicle transport factor 599.0 Globular head. ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280) endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24.0 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GAAACCCCAGCCAAACTTTCC 0.353 0 84.0 80.0 81.0 4 76721883.0 1824.0 4085.0 5909.0 SO:0001583 missense AL832010 CCDS75144.1 4q21.1 2012-12-10 2012-12-10 ENSG00000138768 ENSG00000138768 8615.0 8615.0 30904.0 protein-coding gene gene with protein product """vesicle docking protein"", ""transcytosis associated protein""" 603344.0 """USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)""" 9478999, 9150144, 12077354, 15979508, 14736916 Standard NM_003715 XM_006714395 Approved TAP, VDP, p115 uc003hiu.3 O60763 OTTHUMG00000160952 ENST00000538159.1:c.1822C>G 4.__UNKNOWN__:g.76721883C>G ENSP00000440586:p.Pro608Ala B2RAQ0|Q6PK63|Q86TB8|Q8N592 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 21.4|21.4 4.150145|4.150145 0.78001|0.78001 .|. .|. ENSG00000138768|ENSG00000138768 ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904|ENST00000441296 .|. .|. .|. 5.24|5.24 5.24|5.24 0.73138|0.73138 Vesicle tethering protein Uso1/P115-like , head domain (1);Armadillo-type fold (1);|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.67097|0.67097 0.2857|0.2857 L|L 0.41415|0.41415 1.275|1.275 0.80722|0.80722 D|D 1|1 D;P|. 0.54772|. 0.968;0.919|. P;P|. 0.53760|. 0.734;0.586|. T|T 0.62511|0.62511 -0.6839|-0.6839 9|5 0.19590|. T|. 0.45|. .|. 19.1752|19.1752 0.93601|0.93601 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 608;599|. F5GYR8;O60763|. .;USO1_HUMAN|. A|R 434;608;584;527|274 .|. ENSP00000264904:P527A|. P|S +|+ 1|3 0|2 USO1|USO1 76940907|76940907 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.993000|0.993000 0.82548|0.82548 7.587000|7.587000 0.82613|0.82613 2.614000|2.614000 0.88457|0.88457 0.455000|0.455000 0.32223|0.32223 CCA|AGC USO1-202 KNOWN basic|appris_candidate_longest protein_coding protein_coding + ENST00000538159.1 Missense_Mutation SNP PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH GUSBP1 0 broad.mit.edu 37 5 21491513 21491513 + RNA SNP G G A TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr5:21491513G>A ENST00000607545.1 + 0.0 179 NR_027026.1 Q15486 GUSP1_HUMAN glucuronidase, beta pseudogene 1 carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501) hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553) AAACAAAGTCGTGGACAACCA 0.547 0 BC064850, X75940 5p14.3 2012-10-04 ENSG00000183666 ENSG00000183666 728411.0 728411.0 13670.0 pseudogene pseudogene 8565635 Standard NG_008324 NR_027026 Approved uc010iub.3 Q15486 OTTHUMG00000162474 ENST00000607545.1: 5.__UNKNOWN__:g.21491513G>A A6NLY8|A8K1B7|Q969T8|Q9BUH2 __UNKNOWN__ GUSBP1-006 KNOWN basic processed_transcript pseudogene OTTHUMT00000470546.1 + ENST00000607545.1 RNA SNP PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH LMTK2 22853 broad.mit.edu 37 7 97820972 97820972 + Missense_Mutation SNP G G A TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr7:97820972G>A ENST00000297293.5 + 11.0 1488 c.1195G>A c.(1195-1197)Gcg>Acg p.A399T NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 399.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572) early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037) ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674) 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) 59.0 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) AAAGAGACCCGCGGCTGAAGA 0.507 0 57.0 55.0 56.0 7 97820972.0 2203.0 4300.0 6503.0 SO:0001583 missense AB029002 CCDS5654.1 7q22.1 2014-06-12 ENSG00000164715 ENSG00000164715 22853.0 22853.0 17880.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 100""" 610989.0 15005709 Standard NM_014916 NM_014916 Approved KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100 uc003upd.2 Q8IWU2 OTTHUMG00000154256 ENST00000297293.5:c.1195G>A 7.__UNKNOWN__:g.97820972G>A ENSP00000297293:p.Ala399Thr A4D272|Q75MG7|Q9UPS3 __UNKNOWN__ CCDS5654.1 . . . . . . . . . . G 2.180 -0.387873 0.04932 . . ENSG00000164715 ENST00000297293 T 0.58210 0.35 5.52 4.41 0.53225 Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.097851 0.64402 D 0.000002 T 0.12774 0.0310 N 0.00308 -1.67 0.31677 N 0.643641 B 0.18610 0.029 B 0.14578 0.011 T 0.40701 -0.9549 10 0.02654 T 1 . 4.6036 0.12366 0.275:0.0:0.725:0.0 . 399 Q8IWU2 LMTK2_HUMAN T 399 ENSP00000297293:A399T ENSP00000297293:A399T A + 1 0 LMTK2 97658908 1.000000 0.71417 0.025000 0.17156 0.156000 0.22039 6.086000 0.71352 2.767000 0.95098 0.655000 0.94253 GCG LMTK2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000334560.1 + ENST00000297293.5 Missense_Mutation SNP PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH ATF7IP 55729 broad.mit.edu 37 12 14599931 14599931 + Missense_Mutation SNP G G C TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr12:14599931G>C ENST00000540793.1 + 5.0 2094 c.1939G>C c.(1939-1941)Gcc>Ccc p.A647P ATF7IP_ENST00000543189.1_Missense_Mutation_p.A646P|ATF7IP_ENST00000544627.1_Missense_Mutation_p.A655P|ATF7IP_ENST00000536444.1_Missense_Mutation_p.A646P|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Missense_Mutation_p.A647P Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 647.0 Interaction with SETDB1. DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) nucleus (GO:0005634) cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54.0 GGCCAAGATAGCCAGGTTAAC 0.269 0 45.0 52.0 50.0 12 14599931.0 2203.0 4296.0 6499.0 SO:0001583 missense AJ242978 CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1 12p13.1 2005-11-18 ENSG00000171681 55729.0 55729.0 20092.0 protein-coding gene gene with protein product 613644.0 10976766, 10777215 Standard NM_018179 XM_005253424 Approved FLJ10688, p621 uc001rbw.3 Q6VMQ6 ENST00000540793.1:c.1939G>C 12.__UNKNOWN__:g.14599931G>C ENSP00000444589:p.Ala647Pro F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8 __UNKNOWN__ CCDS8663.1 . . . . . . . . . . G 22.1 4.239066 0.79800 . . ENSG00000171681 ENST00000261168;ENST00000538511;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793 T;T;T;T;T 0.24723 1.96;1.84;1.96;1.96;1.96 5.83 5.83 0.93111 . 0.087940 0.49916 D 0.000140 T 0.47322 0.1439 L 0.59436 1.845 0.42929 D 0.994317 D;D;D;D;D;D 0.89917 0.999;1.0;0.999;0.999;1.0;1.0 D;D;D;D;D;D 0.79784 0.929;0.993;0.953;0.953;0.993;0.993 T 0.40327 -0.9569 10 0.72032 D 0.01 -12.1896 14.3101 0.66410 0.0728:0.0:0.9271:0.0 . 655;646;646;647;646;258 B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8 .;.;.;MCAF1_HUMAN;.;. P 647;86;646;646;655;647 ENSP00000261168:A647P;ENSP00000443179:A646P;ENSP00000445955:A646P;ENSP00000440440:A655P;ENSP00000444589:A647P ENSP00000261168:A647P A + 1 0 ATF7IP 14491198 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 4.749000 0.62155 2.757000 0.94681 0.563000 0.77884 GCC ATF7IP-024 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000401400.1 + ENST00000540793.1 Missense_Mutation SNP PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH CHRNA6 8973 broad.mit.edu 37 8 42608436 42608436 + Missense_Mutation SNP T T A TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr8:42608436T>A ENST00000534622.1 - 5.0 1505 c.1326A>T c.(1324-1326)aaA>aaT p.K442N CHRNA6_ENST00000276410.2_Missense_Mutation_p.K457N NM_001199279.1 NP_001186208.1 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 (neuronal) 457.0 cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810) acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889) endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22.0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273) TGGCCACGTATTTCCAGTCAT 0.378 0 166.0 179.0 175.0 8 42608436.0 2203.0 4300.0 6503.0 SO:0001583 missense U62435 CCDS6135.1, CCDS56536.1 8p22 2012-02-11 2012-02-07 8973.0 8973.0 """Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic""" 15963.0 protein-coding gene gene with protein product """acetylcholine receptor, nicotinic, alpha 6 (neuronal)""" 606888.0 """cholinergic receptor, nicotinic, alpha polypeptide 6""" 8906617 Standard NM_004198 Approved uc003xpj.3 Q15825 ENST00000534622.1:c.1326A>T 8.__UNKNOWN__:g.42608436T>A ENSP00000433871:p.Lys442Asn B2R8V4|B4DQH1 __UNKNOWN__ CCDS56536.1 . . . . . . . . . . t 19.42 3.824801 0.71143 . . ENSG00000147434 ENST00000276410;ENST00000534622 T;T 0.72942 -0.7;-0.7 6.02 -0.44 0.12261 Neurotransmitter-gated ion-channel transmembrane domain (2); 0.045358 0.85682 D 0.000000 D 0.83294 0.5223 M 0.86420 2.815 0.50632 D 0.999882 D;D 0.89917 1.0;1.0 D;D 0.87578 0.998;0.998 D 0.83973 0.0328 10 0.87932 D 0 . 12.1194 0.53883 0.0:0.4603:0.0:0.5397 . 442;457 B4DQH1;Q15825 .;ACHA6_HUMAN N 457;442 ENSP00000276410:K457N;ENSP00000433871:K442N ENSP00000276410:K457N K - 3 2 CHRNA6 42727593 0.107000 0.21998 0.987000 0.45799 0.957000 0.61999 -0.568000 0.05909 -0.067000 0.12976 -0.417000 0.06048 AAA CHRNA6-004 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000383157.1 - ENST00000534622.1 Missense_Mutation SNP PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH GPR83 10888 broad.mit.edu 37 11 94113423 94113423 + Silent SNP C C T TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr11:94113423C>T ENST00000539203.2 - 3.0 1182 c.1038G>A c.(1036-1038)aaG>aaA p.K346K GPR83_ENST00000243673.2_Silent_p.K388K Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 388.0 response to glucocorticoid (GO:0051384) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983) NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19.0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GGCCATCATTCTTCTCTGTCC 0.562 0 83.0 81.0 82.0 11 94113423.0 2201.0 4298.0 6499.0 SO:0001819 synonymous_variant AF236081 CCDS8297.1 11q21 2012-08-21 2003-07-30 2003-08-01 ENSG00000123901 ENSG00000123901 10888.0 10888.0 """GPCR / Class A : Orphans""" 4523.0 protein-coding gene gene with protein product 605569.0 """G protein-coupled receptor 72""" GPR72 10760605, 11060465 Standard NM_016540 NM_016540 Approved uc001pet.2 Q9NYM4 OTTHUMG00000167779 ENST00000539203.2:c.1038G>A 11.__UNKNOWN__:g.94113423C>T B0M0K5|Q6NWR4|Q9P1Y8 __UNKNOWN__ GPR83-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000396233.2 - ENST00000539203.2 Silent SNP PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH ASAP2 8853 broad.mit.edu 37 2 9540191 9540191 + Silent SNP G G T TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr2:9540191G>T ENST00000281419.3 + 25.0 3064 c.2724G>T c.(2722-2724)ccG>ccT p.P908P ASAP2_ENST00000315273.4_Silent_p.P863P|ASAP2_ENST00000491413.1_3'UTR NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 908.0 Pro-rich. positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312) Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270) p.P908P(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36.0 AAGGCCAACCGAGAGGACCTG 0.517 1 Substitution - coding silent(1) lung(1) 130.0 126.0 127.0 2 9540191.0 2199.0 4298.0 6497.0 SO:0001819 synonymous_variant AB007860 CCDS1661.1, CCDS46224.1 2p24 2013-01-10 2008-09-22 2008-09-22 ENSG00000151693 ENSG00000151693 8853.0 8853.0 """ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing""" 2721.0 protein-coding gene gene with protein product """centaurin, beta 3""" 603817.0 """development and differentiation enhancing factor 2""" DDEF2 10022920, 9455477 Standard NM_003887 NM_003887 Approved KIAA0400, PAP, SHAG1, CENTB3 uc002qzh.2 O43150 OTTHUMG00000117485 ENST00000281419.3:c.2724G>T 2.__UNKNOWN__:g.9540191G>T D6W4Y8 __UNKNOWN__ CCDS1661.1 ASAP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000237522.1 + ENST00000281419.3 Silent SNP PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH TRMT6 51605 broad.mit.edu 37 20 5924293 5924293 + Silent SNP C C A rs138159047 TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr20:5924293C>A ENST00000203001.2 - 6.0 709 c.579G>T c.(577-579)acG>acT p.T193T TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Silent_p.T23T NM_015939.3 NP_057023.2 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 homolog (S. cerevisiae) 193.0 regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033) nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743) breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 15.0 TATTTCCCAACGTCAACATCT 0.378 0 173.0 159.0 164.0 20 5924293.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK000613 CCDS13093.1, CCDS63225.1 20p12.3 2009-01-12 ENSG00000089195 ENSG00000089195 51605.0 51605.0 20900.0 protein-coding gene gene with protein product 16043508 Standard NM_001281467 Approved GCD10, MGC5029, Gcd10p, CGI-09 uc002wmh.1 Q9UJA5 OTTHUMG00000031816 ENST00000203001.2:c.579G>T 20.__UNKNOWN__:g.5924293C>A B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8 __UNKNOWN__ CCDS13093.1 TRMT6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077889.2 - ENST00000203001.2 Silent SNP PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH NF1 4763 broad.mit.edu 37 17 29528441 29528441 + Nonsense_Mutation SNP C C T TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr17:29528441C>T ENST00000358273.4 + 11.0 1581 c.1198C>T c.(1198-1200)Cag>Tag p.Q400* NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400*|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 400.0 actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060) axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634) phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099) 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) 599.0 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 0.308 """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) yes Rec yes Neurofibromatosis type 1 17 17q12 4763.0 neurofibromatosis type 1 gene O 16 Whole gene deletion(8)|Unknown(6)|Substitution - Nonsense(2) soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|cervix(2)|lung(1) 78.0 86.0 83.0 17 29528441.0 2203.0 4295.0 6498.0 SO:0001587 stop_gained Familial Cancer Database NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome CCDS11264.1, CCDS42292.1, CCDS45645.1 17q11.2 2014-09-17 2008-07-31 ENSG00000196712 ENSG00000196712 4763.0 4763.0 7765.0 protein-coding gene gene with protein product """neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease""" 613113.0 1715669 Standard NM_000267 NM_000267 Approved uc002hgg.3 P21359 OTTHUMG00000132871 ENST00000358273.4:c.1198C>T 17.__UNKNOWN__:g.29528441C>T ENSP00000351015:p.Gln400* O00662|Q14284|Q14930|Q14931|Q9UMK3 __UNKNOWN__ CCDS42292.1 . . . . . . . . . . C 25.5 4.647345 0.87958 . . ENSG00000196712 ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735 . . . 5.17 5.17 0.71159 . 0.119548 0.64402 D 0.000013 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.06891 T 0.86 . 18.6538 0.91441 0.0:1.0:0.0:0.0 . . . . X 400;400;400;66 . ENSP00000348498:Q400X Q + 1 0 NF1 26552567 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 4.284000 0.58983 2.412000 0.81896 0.491000 0.48974 CAG NF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256351.2 + ENST00000358273.4 Nonsense_Mutation SNP PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH ZNF683 257101 broad.mit.edu 37 1 26688343 26688343 + Silent SNP G G T TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr1:26688343G>T ENST00000374204.1 - 6.0 1431 c.1314C>A c.(1312-1314)acC>acA p.T438T ZNF683_ENST00000349618.3_Silent_p.T438T|ZNF683_ENST00000436292.1_Silent_p.T458T|ZNF683_ENST00000403843.1_Silent_p.T458T NM_001114759.1|NM_173574.2 NP_001108231.1|NP_775845.2 Q8IZ20 ZN683_HUMAN zinc finger protein 683 458.0 natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15.0 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GGGGCAGCTGGGTGTGCACCA 0.617 0 63.0 64.0 63.0 1 26688343.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC029505 CCDS279.2 1p36.11 2013-01-08 ENSG00000176083 ENSG00000176083 257101.0 257101.0 """Zinc fingers, C2H2-type""" 28495.0 protein-coding gene gene with protein product """hypothetical protein MGC33414""" 12477932 Standard NM_173574 NM_173574 Approved MGC33414 uc009vsj.1 Q8IZ20 OTTHUMG00000003521 ENST00000374204.1:c.1314C>A 1.__UNKNOWN__:g.26688343G>T Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4 __UNKNOWN__ CCDS279.2 ZNF683-201 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000009793.2 - ENST00000374204.1 Silent SNP PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH MCHR2 84539 broad.mit.edu 37 6 100369004 100369004 + Missense_Mutation SNP G G C TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr6:100369004G>C ENST00000281806.2 - 6.0 1149 c.835C>G c.(835-837)Cag>Gag p.Q279E MCHR2_ENST00000369212.2_Missense_Mutation_p.Q279E NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 279.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) 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) 39.0 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) AGTGTGGGCTGTTCCATCTGT 0.473 0 207.0 181.0 190.0 6 100369004.0 2203.0 4300.0 6503.0 SO:0001583 missense AF347063 CCDS5044.1 6q16 2012-08-08 2006-02-15 2006-02-15 ENSG00000152034 ENSG00000152034 84539.0 84539.0 """GPCR / Class A : MCH receptors""" 20867.0 protein-coding gene gene with protein product 606111.0 """G protein-coupled receptor 145""" GPR145 11355873, 11274220 Standard NM_032503 NM_032503 Approved SLT, MCH2, MCH2R uc003pqi.1 Q969V1 OTTHUMG00000015270 ENST00000281806.2:c.835C>G 6.__UNKNOWN__:g.100369004G>C ENSP00000281806:p.Gln279Glu B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8 __UNKNOWN__ CCDS5044.1 . . . . . . . . . . G 13.24 2.179240 0.38511 . . ENSG00000152034 ENST00000445970;ENST00000281806;ENST00000369212 T;T;T 0.71341 -0.56;-0.56;-0.56 5.22 5.22 0.72569 GPCR, rhodopsin-like superfamily (1); 0.369608 0.24307 N 0.039674 T 0.40196 0.1107 L 0.40543 1.245 0.28984 N 0.88845 B 0.21821 0.061 B 0.23150 0.044 T 0.25117 -1.0141 10 0.02654 T 1 . 16.2984 0.82786 0.0:0.0:1.0:0.0 . 279 Q969V1 MCHR2_HUMAN E 279 ENSP00000403490:Q279E;ENSP00000281806:Q279E;ENSP00000358214:Q279E ENSP00000281806:Q279E Q - 1 0 MCHR2 100475725 0.204000 0.23447 1.000000 0.80357 0.986000 0.74619 1.835000 0.39181 2.433000 0.82419 0.655000 0.94253 CAG MCHR2-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041620.2 - ENST00000281806.2 Missense_Mutation SNP PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH FAM155B 27112 broad.mit.edu 37 X 68749682 68749682 + Silent SNP C C T TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chrX:68749682C>T ENST00000252338.4 + 3.0 1344 c.1302C>T c.(1300-1302)tgC>tgT p.C434C NM_015686.2 NP_056501.2 O75949 F155B_HUMAN family with sequence similarity 155, member B 435.0 integral component of membrane (GO:0016021) autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16.0 TCCGGCTCTGCGTCCTTGTTC 0.657 0 107.0 81.0 90.0 X 68749682.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF087142 CCDS35317.1 Xq13.1 2008-04-15 2008-04-15 2008-04-15 ENSG00000130054 ENSG00000130054 27112.0 27112.0 30701.0 protein-coding gene gene with protein product """transmembrane protein 28"", ""chromosome X open reading frame 63""" TMEM28, CXorf63 Standard NM_015686 NM_015686 Approved TED uc004dxk.3 O75949 OTTHUMG00000021756 ENST00000252338.4:c.1302C>T X.__UNKNOWN__:g.68749682C>T B1ALV6|B9EGK1|D3DVU1 __UNKNOWN__ CCDS35317.1 FAM155B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057037.1 + ENST00000252338.4 Silent SNP PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH MAP4K3 8491 broad.mit.edu 37 2 39499635 39499635 + Silent SNP G G A TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr2:39499635G>A ENST00000263881.3 - 25.0 2167 c.1843C>T c.(1843-1845)Cta>Tta p.L615L MAP4K3_ENST00000536018.1_Silent_p.L168L|MAP4K3_ENST00000437545.1_Silent_p.L531L|MAP4K3_ENST00000341681.5_Silent_p.L594L NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 615.0 CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}. intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083) 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) 44.0 all_hematologic(82;0.211) GATATTGATAGCAAGCAATTG 0.279 0 72.0 76.0 75.0 2 39499635.0 2203.0 4297.0 6500.0 SO:0001819 synonymous_variant AF000145 CCDS1803.1, CCDS58707.1 2p22.3 2011-06-09 ENSG00000011566 ENSG00000011566 8491.0 8491.0 """Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases""" 6865.0 protein-coding gene gene with protein product 604921.0 RAB8IPL1 9275185 Standard NM_003618 NM_003618 Approved GLK, MAPKKKK3 uc002rro.4 Q8IVH8 OTTHUMG00000102127 ENST00000263881.3:c.1843C>T 2.__UNKNOWN__:g.39499635G>A Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5 __UNKNOWN__ CCDS1803.1 MAP4K3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000219966.2 - ENST00000263881.3 Silent SNP PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH DGKH 160851 broad.mit.edu 37 13 42780271 42780271 + Missense_Mutation SNP A A G TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr13:42780271A>G ENST00000337343.4 + 21.0 2611 c.2590A>G c.(2590-2592)Aaa>Gaa p.K864E DGKH_ENST00000540693.1_Missense_Mutation_p.K864E|DGKH_ENST00000261491.5_Missense_Mutation_p.K864E|DGKH_ENST00000379274.2_Missense_Mutation_p.K728E|DGKH_ENST00000538674.1_Missense_Mutation_p.K619E|DGKH_ENST00000536612.1_Missense_Mutation_p.K728E|DGKH_ENST00000498255.2_3'UTR NM_178009.3 NP_821077.1 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 864.0 blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259) cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) 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) 43.0 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) GGGTGGAACTAAAGAGGATGA 0.398 0 108.0 101.0 103.0 13 42780271.0 2203.0 4300.0 6503.0 SO:0001583 missense AB078967 CCDS9381.1, CCDS9382.1, CCDS55898.1 13q13.3 2013-01-10 ENSG00000102780 ENSG00000102780 160851.0 160851.0 """Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing""" 2854.0 protein-coding gene gene with protein product 604071.0 8702685 Standard NM_178009 XM_005266271 Approved DGKeta uc001uyl.2 Q86XP1 OTTHUMG00000016804 ENST00000337343.4:c.2590A>G 13.__UNKNOWN__:g.42780271A>G ENSP00000337572:p.Lys864Glu A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9 __UNKNOWN__ CCDS9381.1 . . . . . . . . . . A 25.9 4.681011 0.88542 . . ENSG00000102780 ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674 T;T;T;T;T;T 0.31769 1.48;1.48;1.48;1.48;1.48;1.48 5.43 5.43 0.79202 Diacylglycerol kinase, accessory domain (2); 0.000000 0.85682 D 0.000000 T 0.51958 0.1705 M 0.68593 2.085 0.80722 D 1 P;D;P;D 0.59357 0.918;0.985;0.911;0.967 P;P;P;P 0.62014 0.835;0.891;0.821;0.897 T 0.55095 -0.8194 10 0.72032 D 0.01 . 15.7645 0.78114 1.0:0.0:0.0:0.0 . 619;728;864;864 F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1 .;.;.;DGKH_HUMAN E 864;864;864;728;728;619 ENSP00000440823:K864E;ENSP00000337572:K864E;ENSP00000261491:K864E;ENSP00000368576:K728E;ENSP00000445114:K728E;ENSP00000441308:K619E ENSP00000261491:K864E K + 1 0 DGKH 41678271 1.000000 0.71417 1.000000 0.80357 0.960000 0.62799 9.339000 0.96797 2.196000 0.70406 0.482000 0.46254 AAA DGKH-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044699.2 + ENST00000337343.4 Missense_Mutation SNP PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH HRNR 388697 broad.mit.edu 37 1 152187678 152187678 + Missense_Mutation SNP A A G TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr1:152187678A>G ENST00000368801.2 - 3.0 6502 c.6427T>C c.(6427-6429)Tca>Cca p.S2143P FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2143.0 establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424) cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) calcium ion binding (GO:0005509) 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) 192.0 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCCTAGATGACTGTCCTGAT 0.587 0 171.0 199.0 189.0 1 152187678.0 2195.0 4276.0 6471.0 SO:0001583 missense AB104446 CCDS30859.1 1q21.3 2013-01-10 ENSG00000197915 ENSG00000197915 388697.0 388697.0 """EF-hand domain containing""" 20846.0 protein-coding gene gene with protein product """filaggrin family member 3""" Standard XM_373868 NM_001009931 Approved S100a18, S100A16, FLG3 uc001ezt.2 Q86YZ3 OTTHUMG00000012243 ENST00000368801.2:c.6427T>C 1.__UNKNOWN__:g.152187678A>G ENSP00000357791:p.Ser2143Pro Q5DT20|Q5U1F4 __UNKNOWN__ CCDS30859.1 . . . . . . . . . . - 7.384 0.629362 0.14257 . . ENSG00000197915 ENST00000368801 T 0.02177 4.41 3.77 1.18 0.20946 . . . . . T 0.01353 0.0044 N 0.19112 0.55 0.09310 N 1 D 0.76494 0.999 D 0.64042 0.921 T 0.53187 -0.8474 9 0.26408 T 0.33 . 7.4816 0.27408 0.6638:0.0:0.0:0.3362 . 2143 Q86YZ3 HORN_HUMAN P 2143 ENSP00000357791:S2143P ENSP00000357791:S2143P S - 1 0 HRNR 150454302 0.001000 0.12720 0.037000 0.18230 0.001000 0.01503 0.480000 0.22244 0.103000 0.17682 0.491000 0.48974 TCA HRNR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000034016.1 - ENST00000368801.2 Missense_Mutation SNP PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH SNRPD2 6633 broad.mit.edu 37 19 46191718 46191721 + Frame_Shift_Del DEL TGAC TGAC - TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr19:46191718_46191721delTGAC ENST00000590212.1 - 2.0 134_137 c.106_109delGTCA c.(106-111)gtcaagfs p.VK36fs SNRPD2_ENST00000342669.3_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000588599.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000585392.1_5'UTR|SNRPD2_ENST00000588301.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000587367.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000391932.3_Frame_Shift_Del_p.VK26fs P62316 SMD2_HUMAN small nuclear ribonucleoprotein D2 polypeptide 16.5kDa 36.0 gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387) catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687) poly(A) RNA binding (GO:0044822) breast(1)|large_intestine(1)|lung(2) 4.0 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194) GTATTGTTCTTGACTGACTGTGTG 0.544 0 SO:0001589 frameshift_variant CCDS33053.1, CCDS54281.1 19q13.2-q13.3 2011-10-11 2002-08-29 ENSG00000125743 ENSG00000125743 6633.0 6633.0 11159.0 protein-coding gene gene with protein product """snRNP core protein D2""" 601061.0 """small nuclear ribonucleoprotein D2 polypeptide (16.5kD)""" SNRPD1 7527560, 1701240 Standard NM_004597 NM_004597 Approved Sm-D2 uc002pcw.3 P62316 ENST00000590212.1:c.106_109delGTCA 19.__UNKNOWN__:g.46191722_46191725delTGAC ENSP00000468247:p.Val36fs A8K797|J3KPM5|P43330 __UNKNOWN__ SNRPD2-008 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000459654.1 - ENST00000590212.1 Frame_Shift_Del DEL PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH CYTH2 9266 bcgsc.ca 37 19 48977212 48977212 + Missense_Mutation SNP G G A TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr19:48977212G>A ENST00000452733.2 + 6.0 961 c.485G>A c.(484-486)cGg>cAg p.R162Q CYTH2_ENST00000427476.1_Missense_Mutation_p.R162Q Q99418 CYH2_HUMAN cytohesin 2 162.0 SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}. actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155) cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886) ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289) endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15.0 AAAATTGACCGGATGATGGAG 0.612 0 54.0 52.0 53.0 19 48977212.0 2203.0 4300.0 6503.0 SO:0001583 missense X99753 CCDS12722.1 19q13.32 2014-05-02 2008-08-14 2008-08-14 ENSG00000105443 ENSG00000105443 9266.0 9266.0 """Pleckstrin homology (PH) domain containing""" 9502.0 protein-coding gene gene with protein product 602488 """pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)"", ""pleckstrin homology, Sec7 and coiled-coil domains 2""" PSCD2L, PSCD2 8706128, 8945478, 20525696 Standard NM_004228 NM_004228 Approved CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2 uc002pjj.4 Q99418 OTTHUMG00000150245 ENST00000452733.2:c.485G>A 19.__UNKNOWN__:g.48977212G>A ENSP00000408236:p.Arg162Gln A8K8P0|Q8IXY9|Q92958 __UNKNOWN__ CCDS12722.1 . . . . . . . . . . G 27.8 4.861483 0.91433 . . ENSG00000105443 ENST00000452733;ENST00000427476;ENST00000325139 T;T;T 0.64260 -0.09;-0.09;-0.09 4.02 2.98 0.34508 . 0.000000 0.85682 D 0.000000 D 0.87144 0.6104 H 0.99863 4.86 0.80722 D 1 D 0.89917 1.0 D 0.81914 0.995 D 0.89059 0.3461 10 0.87932 D 0 . 9.7764 0.40621 0.1028:0.0:0.8972:0.0 . 162 Q99418-2 . Q 162;162;184 ENSP00000408236:R162Q;ENSP00000391648:R162Q;ENSP00000314566:R184Q ENSP00000314566:R184Q R + 2 0 CYTH2 53669024 1.000000 0.71417 0.998000 0.56505 0.998000 0.95712 9.648000 0.98483 1.044000 0.40200 0.561000 0.74099 CGG CYTH2-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000317060.1 + ENST00000452733.2 Missense_Mutation SNP PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH FYCO1 79443 ucsc.edu 37 3 46008323 46008323 + Missense_Mutation SNP C C T TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr3:46008323C>T ENST00000296137.2 - 8.0 2708 c.2503G>A c.(2503-2505)Gaa>Aaa p.E835K FYCO1_ENST00000535325.1_Missense_Mutation_p.E835K NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 835.0 plus-end-directed vesicle transport along microtubule (GO:0072383) autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020) metal ion binding (GO:0046872) NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54.0 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) TTAAGGGCTTCATTCTGCTCC 0.607 0 74.0 70.0 72.0 3 46008323.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ292348 CCDS2734.1 3p21.3 2008-02-05 ENSG00000163820 ENSG00000163820 79443.0 79443.0 """Zinc fingers, FYVE domain containing""" 14673.0 protein-coding gene gene with protein product 607182 11896456 Standard NM_024513 NM_024513 Approved FLJ13335, ZFYVE7 uc003cpb.5 Q9BQS8 OTTHUMG00000133447 ENST00000296137.2:c.2503G>A 3.__UNKNOWN__:g.46008323C>T ENSP00000296137:p.Glu835Lys B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9 __UNKNOWN__ CCDS2734.1 . . . . . . . . . . C 24.3 4.518050 0.85495 . . ENSG00000163820 ENST00000296137;ENST00000535325 T;T 0.28255 1.62;1.62 5.66 5.66 0.87406 . 0.052527 0.64402 D 0.000001 T 0.57932 0.2087 M 0.75264 2.295 0.48511 D 0.999664 D;D 0.89917 1.0;1.0 D;D 0.83275 0.996;0.969 T 0.58312 -0.7658 10 0.56958 D 0.05 -18.7573 17.9299 0.88993 0.0:1.0:0.0:0.0 . 835;835 B7ZKT7;Q9BQS8 .;FYCO1_HUMAN K 835 ENSP00000296137:E835K;ENSP00000441178:E835K ENSP00000296137:E835K E - 1 0 FYCO1 45983327 0.999000 0.42202 0.962000 0.40283 0.994000 0.84299 4.067000 0.57527 2.677000 0.91161 0.655000 0.94253 GAA FYCO1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257320.2 - ENST00000296137.2 Missense_Mutation SNP PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH DPP3 10072 hgsc.bcm.edu 37 11 66254034 66254034 + Silent SNP A A G rs142633432 TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 A A . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr11:66254034A>G ENST00000360510.2 + 4.0 449 c.384A>G c.(382-384)ctA>ctG p.L128L DPP3_ENST00000541961.1_Silent_p.L128L|DPP3_ENST00000531863.1_Silent_p.L148L|DPP3_ENST00000532677.1_Silent_p.L147L|DPP3_ENST00000530165.1_Silent_p.L98L|DPP3_ENST00000453114.1_Silent_p.L128L Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 128.0 proteolysis (GO:0006508) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886) dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23.0 GGGTGATCCTAGGGAGTGAGG 0.602 0 A , 2,4398 4.2+/-10.8 0,2,2198 114.0 108.0 110.0 384,384 3.0 1.0 11 dbSNP_134 110.0 0,8590 0,0,4295 no coding-synonymous,coding-synonymous DPP3 NM_005700.3,NM_130443.2 , 0,2,6493 GG,GA,AA 0.0,0.0455,0.0154 , 128/738,128/738 66254034.0 2,12988 2200.0 4295.0 6495.0 SO:0001819 synonymous_variant AB017970 CCDS8141.1, CCDS58147.1 11q12-q13.1 2008-02-05 2006-01-12 ENSG00000254986 ENSG00000254986 10072.0 10072.0 3.4.14.4 3008.0 protein-coding gene gene with protein product 606818 """dipeptidylpeptidase III"", ""dipeptidylpeptidase 3""" 10773679 Standard NM_005700 Approved uc001oif.2 Q9NY33 OTTHUMG00000167143 ENST00000360510.2:c.384A>G 11.__UNKNOWN__:g.66254034A>G B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6 __UNKNOWN__ CCDS8141.1 DPP3-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393424.2 + ENST00000360510.2 Silent SNP PCPG-TCGA-RW-A67Y-Normal-SM-5EQHH PPP1R26 9858 broad.mit.edu 37 9 138376461 138376461 + Silent SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr9:138376461C>T ENST00000356818.2 + 4.0 654 c.105C>T c.(103-105)gaC>gaT p.D35D PPP1R26_ENST00000605286.1_Silent_p.D35D|PPP1R26_ENST00000401470.3_Silent_p.D35D|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Silent_p.D35D|PPP1R26_ENST00000605660.1_Silent_p.D35D NM_014811.3 NP_055626.3 Q5T8A7 PPR26_HUMAN protein phosphatase 1, regulatory subunit 26 35.0 negative regulation of phosphatase activity (GO:0010923) nucleus (GO:0005634) phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864) CGGAGGCTGACGAGGGCGTGG 0.657 0 43.0 53.0 50.0 9 138376461.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant AB014549 CCDS6988.1 9q34.3 2012-04-17 2011-10-11 2011-10-11 ENSG00000196422 ENSG00000196422 9858.0 9858.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 29089.0 protein-coding gene gene with protein product """DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein""" 614056.0 """KIAA0649""" KIAA0649 9734811, 16053918 Standard NM_014811 NM_014811 Approved uc004cfr.1 Q5T8A7 OTTHUMG00000020904 ENST00000356818.2:c.105C>T 9.__UNKNOWN__:g.138376461C>T Q86WU0|Q8WVV0|Q9Y4D3 __UNKNOWN__ CCDS6988.1 PPP1R26-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054987.1 + ENST00000356818.2 Silent SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW ABCC10 89845 broad.mit.edu 37 6 43415485 43415485 + Missense_Mutation SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr6:43415485C>T ENST00000372530.4 + 18.0 3984 c.3769C>T c.(3769-3771)Cca>Tca p.P1257S ABCC10_ENST00000244533.3_Missense_Mutation_p.P1229S NM_001198934.1 NP_001185863.1 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 1257.0 ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}. transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626) 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) 56.0 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) Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541) GGCGTACCGGCCAGGGCTGCC 0.662 0 142.0 146.0 145.0 6 43415485.0 2203.0 4300.0 6503.0 SO:0001583 missense U66684 CCDS4896.1, CCDS56430.1 6p12.3 2012-03-14 ENSG00000124574 ENSG00000124574 89845.0 89845.0 """ATP binding cassette transporters / subfamily C""" 52.0 protein-coding gene gene with protein product 612509.0 8894702 Standard NM_033450 NM_033450 Approved EST182763, MRP7, SIMRP7 uc003ouy.1 Q5T3U5 OTTHUMG00000014733 ENST00000372530.4:c.3769C>T 6.__UNKNOWN__:g.43415485C>T ENSP00000361608:p.Pro1257Ser Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48 __UNKNOWN__ CCDS56430.1 . . . . . . . . . . C 16.83 3.230742 0.58777 . . ENSG00000124574 ENST00000372530;ENST00000244533;ENST00000443394 D;D 0.89939 -2.59;-2.59 5.61 5.61 0.85477 ABC transporter-like (1); 0.362802 0.29814 N 0.011132 T 0.77785 0.4182 N 0.17594 0.5 0.44424 D 0.997345 P;B 0.36789 0.57;0.158 B;B 0.39258 0.295;0.066 T 0.82335 -0.0508 10 0.59425 D 0.04 -18.9539 16.1618 0.81727 0.0:0.8577:0.1423:0.0 . 1229;1257 Q5T3U5-2;Q5T3U5 .;MRP7_HUMAN S 1257;1229;8 ENSP00000361608:P1257S;ENSP00000244533:P1229S ENSP00000244533:P1229S P + 1 0 ABCC10 43523463 1.000000 0.71417 1.000000 0.80357 0.901000 0.52897 2.228000 0.42981 2.641000 0.89580 0.591000 0.81541 CCA ABCC10-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040603.2 + ENST00000372530.4 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW POLD2 5425 broad.mit.edu 37 7 44154459 44154459 + Silent SNP C C G TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr7:44154459C>G ENST00000406581.2 - 12.0 1984 c.1335G>C c.(1333-1335)ctG>ctC p.L445L POLD2_ENST00000223361.3_Silent_p.L431L|POLD2_ENST00000452185.1_Silent_p.L445L NM_001256879.1 NP_001243808.1 P49005 DPOD2_HUMAN polymerase (DNA directed), delta 2, accessory subunit 445.0 base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283) delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 12.0 GCTGGCAGGCCAGGCTGCGCA 0.612 0 30.0 31.0 30.0 7 44154459.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS5477.1, CCDS75586.1 7p13 2012-05-18 2012-05-18 ENSG00000106628 ENSG00000106628 5425.0 5425.0 """DNA polymerases""" 9176.0 protein-coding gene gene with protein product """Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50""" 600815.0 """polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa""" 8530069 Standard NM_001127218 NM_001127218 Approved uc003tkf.5 P49005 OTTHUMG00000022909 ENST00000406581.2:c.1335G>C 7.__UNKNOWN__:g.44154459C>G A4D2J4|B2R5S4 __UNKNOWN__ CCDS5477.1 POLD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250994.2 - ENST00000406581.2 Silent SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW ATP1B1 481 broad.mit.edu 37 1 169100776 169100776 + Missense_Mutation SNP A A G TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr1:169100776A>G ENST00000367816.1 + 7.0 1424 c.895A>G c.(895-897)Att>Gtt p.I299V ATP1B1_ENST00000499679.3_Missense_Mutation_p.I243V|ATP1B1_ENST00000367815.4_Missense_Mutation_p.I299V|ATP1B1_ENST00000367813.3_Missense_Mutation_p.I291V P05026 AT1B1_HUMAN ATPase, Na+/K+ transporting, beta 1 polypeptide 299.0 immunoglobulin-like. blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982) ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391) breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 14.0 all_hematologic(923;0.208) TGATGTAAAAATTGAAGTTAA 0.368 0 71.0 69.0 69.0 1 169100776.0 2203.0 4300.0 6503.0 SO:0001583 missense U16799 CCDS1276.1 1q24.2 2012-10-22 ENSG00000143153 ENSG00000143153 481.0 481.0 """ATPases / P-type""" 804.0 protein-coding gene gene with protein product """sodium/potassium-transporting ATPase subunit beta-1"", ""sodium pump subunit beta-1"", ""sodium-potassium ATPase subunit beta 1 (non-catalytic)""" 182330.0 ATP1B Standard NM_001677 Approved uc001gfr.1 P05026 OTTHUMG00000034590 ENST00000367816.1:c.895A>G 1.__UNKNOWN__:g.169100776A>G ENSP00000356790:p.Ile299Val Q5TGZ3 __UNKNOWN__ CCDS1276.1 . . . . . . . . . . A 9.852 1.194005 0.22037 . . ENSG00000143153 ENST00000367816;ENST00000367815;ENST00000499679;ENST00000367813 T;T;T;T 0.29655 1.57;1.57;1.59;1.56 5.46 4.29 0.51040 . 0.194361 0.53938 D 0.000041 T 0.09024 0.0223 N 0.25890 0.77 0.22081 N 0.999375 B 0.21688 0.059 B 0.21546 0.035 T 0.11155 -1.0599 9 0.32370 T 0.25 -14.7659 8.2346 0.31618 0.5875:0.0:0.0:0.4125 . 299 P05026 AT1B1_HUMAN V 299;299;243;291 ENSP00000356790:I299V;ENSP00000356789:I299V;ENSP00000423450:I243V;ENSP00000356787:I291V ENSP00000356787:I291V I + 1 0 ATP1B1 167367400 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 1.138000 0.31491 2.076000 0.62316 0.528000 0.53228 ATT ATP1B1-002 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000083696.1 + ENST00000367816.1 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW IL16 3603 broad.mit.edu 37 15 81575036 81575036 + Missense_Mutation SNP T T A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr15:81575036T>A ENST00000394660.2 + 9.0 1498 c.1138T>A c.(1138-1140)Tct>Act p.S380T IL16_ENST00000302987.4_Missense_Mutation_p.S380T NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 380.0 Interaction with GRIN2A.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}. immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886) 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) 57.0 CCAATGCATCTCTGGCATTTT 0.607 0 163.0 172.0 169.0 15 81575036.0 2144.0 4243.0 6387.0 SO:0001583 missense U82972 CCDS10317.1, CCDS42069.1, CCDS53966.1 15q26.3 2011-07-14 2011-07-14 ENSG00000172349 ENSG00000172349 3603.0 3603.0 """Interleukins and interleukin receptors""" 5980.0 protein-coding gene gene with protein product """prointerleukin 16"", ""lymphocyte chemoattractant factor""" 603035.0 """interleukin 16 (lymphocyte chemoattractant factor)""" 9144227 Standard NM_172217 NM_004513 Approved LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806 uc021ssh.1 Q14005 OTTHUMG00000144186 ENST00000394660.2:c.1138T>A 15.__UNKNOWN__:g.81575036T>A ENSP00000378155:p.Ser380Thr A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18 __UNKNOWN__ CCDS53966.1 . . . . . . . . . . T 18.40 3.616051 0.66672 . . ENSG00000172349 ENST00000394655;ENST00000394660;ENST00000355368;ENST00000302987 T;T 0.16743 2.32;2.32 5.46 5.46 0.80206 PDZ/DHR/GLGF (3); 0.179052 0.27253 N 0.020213 T 0.23451 0.0567 N 0.16066 0.365 0.80722 D 1 D;D 0.71674 0.996;0.998 P;D 0.65684 0.867;0.937 T 0.09952 -1.0651 10 0.28530 T 0.3 . 15.5247 0.75894 0.0:0.0:0.0:1.0 . 380;380 Q14005;Q14005-2 IL16_HUMAN;. T 380;380;212;380 ENSP00000378155:S380T;ENSP00000302935:S380T ENSP00000302935:S380T S + 1 0 IL16 79362091 1.000000 0.71417 0.938000 0.37757 0.653000 0.38743 3.398000 0.52579 2.067000 0.61834 0.482000 0.46254 TCT IL16-001 KNOWN basic|appris_candidate|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000291391.4 + ENST00000394660.2 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW HCN1 348980 broad.mit.edu 37 5 45262355 45262355 + Missense_Mutation SNP G G A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr5:45262355G>A ENST00000303230.4 - 8.0 2398 c.2341C>T c.(2341-2343)Cgg>Tgg p.R781W NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 781.0 apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268) axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248) p.R781R(1) 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) 156.0 CTGACTTCCCGGGTCAGGTTG 0.637 1 Substitution - coding silent(1) lung(1) 73.0 69.0 71.0 5 45262355.0 2203.0 4300.0 6503.0 SO:0001583 missense AF064876 CCDS3952.1 5p12 2011-07-05 ENSG00000164588 ENSG00000164588 348980.0 348980.0 """Voltage-gated ion channels / Cyclic nucleotide-regulated channels""" 4845.0 protein-coding gene gene with protein product 602780.0 BCNG1 9405696, 9630217, 16382102 Standard NM_021072 NM_021072 Approved BCNG-1, HAC-2 uc003jok.3 O60741 OTTHUMG00000131155 ENST00000303230.4:c.2341C>T 5.__UNKNOWN__:g.45262355G>A ENSP00000307342:p.Arg781Trp __UNKNOWN__ CCDS3952.1 . . . . . . . . . . G 17.42 3.385393 0.61956 . . ENSG00000164588 ENST00000303230 T 0.76709 -1.04 5.02 1.49 0.22878 . 0.109401 0.38164 N 0.001782 T 0.79981 0.4540 L 0.27053 0.805 0.36489 D 0.868304 D 0.89917 1.0 D 0.79784 0.993 D 0.84234 0.0468 10 0.87932 D 0 . 14.7417 0.69461 0.0:0.0:0.508:0.492 . 781 O60741 HCN1_HUMAN W 781 ENSP00000307342:R781W ENSP00000307342:R781W R - 1 2 HCN1 45298112 0.292000 0.24362 0.658000 0.29665 0.980000 0.70556 2.305000 0.43664 0.552000 0.29026 0.655000 0.94253 CGG HCN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253847.1 - ENST00000303230.4 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW ATRX 546 broad.mit.edu 37 X 76855943 76855943 + Missense_Mutation SNP G G A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chrX:76855943G>A ENST00000373344.5 - 23.0 5871 c.5657C>T c.(5656-5658)cCt>cTt p.P1886L ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.P1848L NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1886.0 ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270) 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) 145.0 CAAACACCAAGGATGAGTCCA 0.363 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome Rec yes X Xq21.1 546.0 alpha thalassemia/mental retardation syndrome X-linked yes E 1 Unknown(1) bone(1) 203.0 179.0 187.0 X 76855943.0 2203.0 4296.0 6499.0 SO:0001583 missense U72937 CCDS14434.1, CCDS14435.1 Xq21.1 2014-06-17 2010-06-24 ENSG00000085224 ENSG00000085224 546.0 546.0 886.0 protein-coding gene gene with protein product """RAD54 homolog (S. cerevisiae)""" 300032.0 """alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome""" RAD54, JMS 7874112, 1415255, 8503439, 8630485 Standard NM_000489 NM_000489 Approved XH2, XNP uc004ecp.4 P46100 OTTHUMG00000022686 ENST00000373344.5:c.5657C>T X.__UNKNOWN__:g.76855943G>A ENSP00000362441:p.Pro1886Leu D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3 __UNKNOWN__ CCDS14434.1 . . . . . . . . . . G 18.97 3.735976 0.69189 . . ENSG00000085224 ENST00000373344;ENST00000395603 D;D 0.94184 -3.37;-3.37 5.26 5.26 0.73747 SNF2-related (1); 0.000000 0.64402 U 0.000001 D 0.98160 0.9392 H 0.98005 4.125 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 0.999;1.0 D 0.99851 1.1071 10 0.87932 D 0 -8.1757 17.9366 0.89014 0.0:0.0:1.0:0.0 . 1848;1886 P46100-4;P46100 .;ATRX_HUMAN L 1886;1848 ENSP00000362441:P1886L;ENSP00000378967:P1848L ENSP00000362441:P1886L P - 2 0 ATRX 76742599 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.476000 0.97823 2.169000 0.68431 0.538000 0.68166 CCT ATRX-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000058860.2 - ENST00000373344.5 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW SVIL 6840 broad.mit.edu 37 10 29840161 29840161 + Missense_Mutation SNP A A T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr10:29840161A>T ENST00000355867.4 - 6.0 944 c.192T>A c.(190-192)gaT>gaA p.D64E SVIL_ENST00000375400.3_Missense_Mutation_p.D64E|SVIL_ENST00000375398.2_Missense_Mutation_p.D64E NM_021738.2 NP_068506.2 O95425 SVIL_HUMAN supervillin 64.0 Interaction with MYLK. {ECO:0000250}. cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519) actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886) actin filament binding (GO:0051015) 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) 112.0 Breast(68;0.103) CTAGAGAAGAATCAGAAGTTT 0.458 0 59.0 49.0 52.0 10 29840161.0 2203.0 4300.0 6503.0 SO:0001583 missense AF051851 CCDS7163.1, CCDS7164.1 10p11.2 2008-07-29 ENSG00000197321 ENSG00000197321 6840.0 6840.0 11480.0 protein-coding gene gene with protein product """archvillin""" 604126.0 9382871 Standard NM_003174 Approved uc001iut.1 O95425 OTTHUMG00000017882 ENST00000355867.4:c.192T>A 10.__UNKNOWN__:g.29840161A>T ENSP00000348128:p.Asp64Glu D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7 __UNKNOWN__ CCDS7164.1 . . . . . . . . . . A 14.17 2.454035 0.43634 . . ENSG00000197321 ENST00000375400;ENST00000375398;ENST00000355867 T;T;T 0.41065 1.01;1.01;1.01 5.41 -1.99 0.07457 . 0.904331 0.09632 N 0.776148 T 0.26557 0.0649 L 0.47716 1.5 0.80722 D 1 B;B 0.31274 0.003;0.317 B;B 0.26517 0.015;0.07 T 0.24440 -1.0160 9 . . . -8.3486 1.8974 0.03261 0.4488:0.2275:0.2176:0.1061 . 64;64 O95425-2;O95425 .;SVIL_HUMAN E 64 ENSP00000364549:D64E;ENSP00000364547:D64E;ENSP00000348128:D64E . D - 3 2 SVIL 29880167 0.943000 0.32029 0.440000 0.26846 0.862000 0.49288 0.080000 0.14802 -0.230000 0.09840 0.482000 0.46254 GAT SVIL-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000047395.1 - ENST00000355867.4 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW TBC1D32 221322 broad.mit.edu 37 6 121491568 121491568 + Silent SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr6:121491568C>T ENST00000398212.2 - 23.0 2620 TBC1D32_ENST00000275159.6_Silent_p.E892E|TBC1D32_ENST00000398197.2_Intron NM_152730.4 NP_689943.4 Q96NH3 BROMI_HUMAN TBC1 domain family, member 32 cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831) cilium (GO:0005929)|cytoplasm (GO:0005737) Rab GTPase activator activity (GO:0005097) TCTCAGAAATCTCCAAGATAT 0.353 0 48.0 49.0 48.0 6 121491568.0 876.0 1991.0 2867.0 SO:0001627 intron_variant AK055461 CCDS43501.1 6q22.31 2014-02-20 2013-07-10 2013-07-10 ENSG00000146350 ENSG00000146350 221322.0 221322.0 21485.0 protein-coding gene gene with protein product """broad-minded homolog""" 615867.0 """chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170""" C6orf171, C6orf170 20159594, 24285566 Standard NM_152730 NM_152730 Approved FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI uc003pyo.1 Q96NH3 OTTHUMG00000015474 ENST00000398212.2:c.2571-9366G>A 6.__UNKNOWN__:g.121491568C>T Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47 __UNKNOWN__ CCDS43501.1 TBC1D32-005 PUTATIVE non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000380937.2 - ENST00000398212.2 Intron SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW ZAN 7455 broad.mit.edu 37 7 100391825 100391825 + RNA SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr7:100391825C>T ENST00000348028.3 + 0.0 8016 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139.0 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGCCCTTCAGCTGCAGAGCGG 0.637 0 76.0 84.0 81.0 7 100391825.0 2042.0 4201.0 6243.0 U83191 7q22.1 2013-10-10 2013-10-10 ENSG00000146839 ENSG00000146839 7455.0 7455.0 12857.0 protein-coding gene gene with protein product 602372.0 """zonadhesin""" 9799793, 17033959 Standard NM_003386 NM_003386 Approved uc003uwk.3 Q9Y493 OTTHUMG00000157037 ENST00000348028.3: 7.__UNKNOWN__:g.100391825C>T A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88 __UNKNOWN__ ZAN-006 KNOWN basic polymorphic_pseudogene polymorphic_pseudogene OTTHUMT00000347214.1 + ENST00000348028.3 RNA SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW GPR132 29933 broad.mit.edu 37 14 105517581 105517581 + Missense_Mutation SNP G G A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr14:105517581G>A ENST00000392585.2 - 3.0 1039 c.866C>T c.(865-867)aCg>aTg p.T289M GPR132_ENST00000539291.2_Missense_Mutation_p.T298M|GPR132_ENST00000329797.3_Missense_Mutation_p.T298M NM_001278695.1 NP_001265624.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 298.0 G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18.0 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) GCCGTTCACCGTGGACAGGCA 0.562 0 111.0 91.0 98.0 14 105517581.0 2203.0 4300.0 6503.0 SO:0001583 missense AF083955 CCDS9997.1, CCDS61567.1 14q32.3 2012-08-21 ENSG00000183484 ENSG00000183484 29933.0 29933.0 """GPCR / Class A : Orphans""" 17482.0 protein-coding gene gene with protein product """G2 accumulation""" 606167.0 12086852 Standard NM_013345 NM_013345 Approved G2A uc001yqd.3 Q9UNW8 OTTHUMG00000140173 ENST00000392585.2:c.866C>T 14.__UNKNOWN__:g.105517581G>A ENSP00000376364:p.Thr289Met A8K7X7|B4E144|Q9BSU2 __UNKNOWN__ . . . . . . . . . . G 16.99 3.273952 0.59649 . . ENSG00000183484 ENST00000329797;ENST00000392585;ENST00000539291 T;T;T 0.71341 -0.56;-0.56;-0.56 4.68 4.68 0.58851 GPCR, rhodopsin-like superfamily (1); 0.122079 0.53938 D 0.000056 T 0.82208 0.4987 M 0.64676 1.99 0.45502 D 0.998464 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 D 0.83726 0.0195 10 0.56958 D 0.05 . 16.9482 0.86236 0.0:0.0:1.0:0.0 . 289;298 B4E144;Q9UNW8 .;GP132_HUMAN M 298;289;298 ENSP00000328818:T298M;ENSP00000376364:T289M;ENSP00000438094:T298M ENSP00000328818:T298M T - 2 0 GPR132 104588626 1.000000 0.71417 0.533000 0.28001 0.507000 0.33981 5.178000 0.65037 2.300000 0.77407 0.563000 0.77884 ACG GPR132-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000409279.1 - ENST00000392585.2 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW FAM160B2 64760 broad.mit.edu 37 8 21955258 21955258 + Missense_Mutation SNP G G A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr8:21955258G>A ENST00000289921.7 + 5.0 479 c.433G>A c.(433-435)Gga>Aga p.G145R NM_022749.5 NP_073586.5 Q86V87 F16B2_HUMAN family with sequence similarity 160, member B2 145.0 endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9.0 GACTGCTTCCGGATCCGTTAC 0.597 0 29.0 30.0 30.0 8 21955258.0 1935.0 4159.0 6094.0 SO:0001583 missense AK025454 CCDS6021.2 8p21.3 2012-11-30 2008-06-05 2008-06-05 ENSG00000158863 ENSG00000158863 64760.0 64760.0 16492.0 protein-coding gene gene with protein product """retinoic acid induced 16""" RAI16 22971576, 15626329 Standard XR_247128 Approved FLJ21801 uc011kyx.2 Q86V87 OTTHUMG00000097088 ENST00000289921.7:c.433G>A 8.__UNKNOWN__:g.21955258G>A ENSP00000289921:p.Gly145Arg B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4 __UNKNOWN__ CCDS6021.2 . . . . . . . . . . . 14.60 2.585092 0.46110 . . ENSG00000158863 ENST00000289921 T 0.30182 1.54 5.09 4.15 0.48705 . 0.182395 0.47093 D 0.000258 T 0.46541 0.1398 L 0.54323 1.7 0.46609 D 0.999126 D 0.69078 0.997 D 0.64144 0.922 T 0.45920 -0.9228 10 0.72032 D 0.01 -15.1825 12.7059 0.57060 0.0:0.1671:0.8329:0.0 . 145 Q86V87 F16B2_HUMAN R 145 ENSP00000289921:G145R ENSP00000289921:G145R G + 1 0 FAM160B2 22011204 1.000000 0.71417 0.883000 0.34634 0.006000 0.05464 4.612000 0.61169 2.365000 0.80145 0.462000 0.41574 GGA FAM160B2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000375334.2 + ENST00000289921.7 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW RBM12B 389677 broad.mit.edu 37 8 94747087 94747087 + Missense_Mutation SNP T T C TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr8:94747087T>C ENST00000399300.2 - 3.0 1765 c.1552A>G c.(1552-1554)Ata>Gta p.I518V RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.I518V NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 518.0 nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30.0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) ACTGAGTATATTGGTGGGTCT 0.443 0 109.0 104.0 105.0 8 94747087.0 1851.0 4100.0 5951.0 SO:0001583 missense CCDS43755.1 8q22 2014-05-20 ENSG00000183808 ENSG00000183808 389677.0 389677.0 """RNA binding motif (RRM) containing""" 32310.0 protein-coding gene gene with protein product Standard NM_203390 NM_203390 Approved uc003yfz.3 Q8IXT5 OTTHUMG00000164317 ENST00000399300.2:c.1552A>G 8.__UNKNOWN__:g.94747087T>C ENSP00000382239:p.Ile518Val A8MYB5 __UNKNOWN__ CCDS43755.1 . . . . . . . . . . T 0.001 -3.661918 0.00006 . . ENSG00000183808 ENST00000399300;ENST00000517700 T;T 0.05925 3.37;3.37 5.64 -7.75 0.01236 . 1.977070 0.02096 N 0.053534 T 0.02533 0.0077 N 0.14661 0.345 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.40701 -0.9549 10 0.06365 T 0.9 -0.0157 1.6073 0.02687 0.1634:0.284:0.1624:0.3902 . 518 Q8IXT5 RB12B_HUMAN V 518 ENSP00000382239:I518V;ENSP00000427729:I518V ENSP00000382239:I518V I - 1 0 RBM12B 94816263 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 -0.636000 0.05465 -1.736000 0.01352 -2.299000 0.00261 ATA RBM12B-007 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000383603.1 - ENST00000399300.2 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW PREX2 80243 broad.mit.edu 37 8 68965465 68965465 + Missense_Mutation SNP A A C TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr8:68965465A>C ENST00000288368.4 + 9.0 1354 c.1077A>C c.(1075-1077)gaA>gaC p.E359D 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 2 359.0 PH. {ECO:0000255|PROSITE- ProRule:PRU00145}. adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855) Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676) 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) 178.0 TTTTGAAAGAAAGAGAACGGC 0.378 0 115.0 111.0 112.0 8 68965465.0 2203.0 4300.0 6503.0 SO:0001583 missense AK024079 CCDS6201.1 8q13.1 2014-06-13 2008-09-15 2008-09-15 ENSG00000046889 ENSG00000046889 80243.0 80243.0 """Rho guanine nucleotide exchange factors""" 22950.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 129""" 612139.0 """DEP domain containing 2""" DEPDC2 15304342, 15304343 Standard NM_025170 NM_024870 Approved DEP.2, FLJ12987, P-REX2, PPP1R129 uc003xxv.1 Q70Z35 OTTHUMG00000164402 ENST00000288368.4:c.1077A>C 8.__UNKNOWN__:g.68965465A>C ENSP00000288368:p.Glu359Asp B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961 __UNKNOWN__ CCDS6201.1 . . . . . . . . . . A 21.9 4.212010 0.79240 . . ENSG00000046889 ENST00000288368;ENST00000396539;ENST00000354677 D 0.88586 -2.4 5.74 3.41 0.39046 Pleckstrin homology-type (1);Pleckstrin homology domain (2); 0.055062 0.64402 D 0.000001 D 0.93504 0.7927 M 0.85197 2.74 0.58432 D 0.999999 D;D;D 0.89917 1.0;0.999;0.999 D;D;D 0.91635 0.999;0.997;0.997 D 0.92611 0.6099 10 0.87932 D 0 . 7.0984 0.25323 0.695:0.0:0.305:0.0 . 359;359;359 Q70Z35-2;Q70Z35;Q70Z35-3 .;PREX2_HUMAN;. D 359 ENSP00000288368:E359D ENSP00000288368:E359D E + 3 2 PREX2 69128019 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 2.288000 0.43514 1.009000 0.39289 0.533000 0.62120 GAA PREX2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378620.1 + ENST00000288368.4 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW KCNA6 3742 broad.mit.edu 37 12 4919742 4919742 + Missense_Mutation SNP G G A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr12:4919742G>A ENST00000280684.3 + 1.0 1401 c.535G>A c.(535-537)Gtc>Atc p.V179I KCNA6_ENST00000433855.1_Missense_Mutation_p.V179I P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 179.0 potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268) plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249) p.V179I(1) NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49.0 Dalfampridine(DB06637) CATCGCCATCGTCTCCGTGTT 0.592 HNSCC(72;0.22) 1 Substitution - Missense(1) large_intestine(1) 67.0 59.0 62.0 12 4919742.0 2203.0 4300.0 6503.0 SO:0001583 missense X17622 CCDS8534.1 12p13 2014-06-12 3742.0 3742.0 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels""" 6225.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 96""" 176257.0 16382104 Standard NM_002235 NM_002235 Approved Kv1.6, HBK2, PPP1R96 uc001qng.3 P17658 ENST00000280684.3:c.535G>A 12.__UNKNOWN__:g.4919742G>A ENSP00000280684:p.Val179Ile __UNKNOWN__ CCDS8534.1 . . . . . . . . . . G 14.14 2.446111 0.43429 . . ENSG00000151079 ENST00000433855;ENST00000280684 T;T 0.76060 -0.99;-0.99 4.99 4.99 0.66335 . 0.127069 0.52532 D 0.000077 T 0.60560 0.2278 N 0.25647 0.755 0.58432 D 0.999995 B 0.29188 0.236 B 0.19148 0.024 T 0.57670 -0.7771 10 0.16896 T 0.51 . 17.4425 0.87568 0.0:0.0:1.0:0.0 . 179 P17658 KCNA6_HUMAN I 179 ENSP00000408321:V179I;ENSP00000280684:V179I ENSP00000280684:V179I V + 1 0 KCNA6 4790003 1.000000 0.71417 1.000000 0.80357 0.807000 0.45602 7.798000 0.85924 2.595000 0.87683 0.563000 0.77884 GTC KCNA6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398909.1 + ENST00000280684.3 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW L3MBTL1 26013 broad.mit.edu 37 20 42162707 42162707 + Missense_Mutation SNP G G A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr20:42162707G>A ENST00000427442.2 + 14.0 1666 c.1507G>A c.(1507-1509)Gct>Act p.A503T L3MBTL1_ENST00000373134.1_Missense_Mutation_p.A435T|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.A503T|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.A435T|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.A435T Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 435.0 chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351) chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(1)|large_intestine(3)|ovary(1)|skin(2) 7.0 TGGGGCCTCTGCTGTCCCCAC 0.572 0 77.0 81.0 80.0 20 42162707.0 2203.0 4300.0 6503.0 SO:0001583 missense U89358 CCDS13319.1, CCDS46602.1, CCDS46602.2 20q13.12 2013-01-10 2010-09-03 2010-09-03 ENSG00000185513 ENSG00000185513 26013.0 26013.0 """Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing""" 15905.0 protein-coding gene gene with protein product """lethal (3) malignant brain tumor l(3)""" 608802.0 """l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)""" L3MBTL 10445843, 17540172 Standard NM_032107 NM_032107 Approved ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681 uc010zwh.2 Q9Y468 OTTHUMG00000032503 ENST00000427442.2:c.1507G>A 20.__UNKNOWN__:g.42162707G>A ENSP00000402107:p.Ala503Thr B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9 __UNKNOWN__ CCDS46602.2 . . . . . . . . . . G 28.8 4.947477 0.92593 . . ENSG00000185513 ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133 T;T;T;T;T;T 0.43688 0.94;0.94;0.94;0.94;0.94;0.94 5.92 4.97 0.65823 . 0.050077 0.85682 D 0.000000 T 0.61912 0.2385 M 0.61703 1.905 0.58432 D 0.999998 D;P;D;D 0.89917 0.963;0.927;1.0;0.998 P;P;D;D 0.72982 0.664;0.539;0.979;0.927 T 0.65421 -0.6172 10 0.62326 D 0.03 . 15.8684 0.79084 0.0:0.1445:0.8555:0.0 . 503;87;435;435 Q9Y468-5;Q9Y468-3;Q9Y468-2;Q9Y468-1 .;.;.;. T 503;503;435;435;435;221;87 ENSP00000402107:A503T;ENSP00000398516:A503T;ENSP00000362227:A435T;ENSP00000403316:A435T;ENSP00000362226:A435T;ENSP00000410139:A221T ENSP00000362225:A87T A + 1 0 L3MBTL1 41596121 1.000000 0.71417 0.997000 0.53966 0.975000 0.68041 7.706000 0.84615 1.495000 0.48549 0.655000 0.94253 GCT L3MBTL1-007 KNOWN upstream_ATG|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000079300.3 + ENST00000427442.2 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW CLVS1 157807 broad.mit.edu 37 8 62370926 62370926 + Missense_Mutation SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr8:62370926C>T ENST00000519846.1 + 6.0 1274 c.802C>T c.(802-804)Ccc>Tcc p.P268S CLVS1_ENST00000325897.4_Missense_Mutation_p.P268S|CLVS1_ENST00000518592.1_5'UTR Q8IUQ0 CLVS1_HUMAN clavesin 1 268.0 CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}. lysosome organization (GO:0007040) clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802) phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215) p.P268S(1) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41.0 TGAATTTTTGCCCTCTGAATT 0.413 1 Substitution - Missense(1) prostate(1) 128.0 120.0 123.0 8 62370926.0 2203.0 4300.0 6503.0 SO:0001583 missense AY094971 CCDS6176.1 8q12.1 2009-10-14 2009-10-14 2009-10-14 ENSG00000177182 157807.0 157807.0 23139.0 protein-coding gene gene with protein product 611292.0 """retinaldehyde binding protein 1-like 1""" RLBP1L1 16802092, 19651769 Standard NM_173519 NM_173519 Approved MGC34646, CRALBPL, C6orf212L uc003xuh.3 Q8IUQ0 ENST00000519846.1:c.802C>T 8.__UNKNOWN__:g.62370926C>T ENSP00000428402:p.Pro268Ser B2R7M5|C8UZT3|Q8NB32 __UNKNOWN__ CCDS6176.1 . . . . . . . . . . C 32 5.182528 0.94885 . . ENSG00000177182 ENST00000519846;ENST00000325897 D;D 0.90844 -2.74;-2.74 5.43 5.43 0.79202 Cellular retinaldehyde-binding/triple function, C-terminal (5); 0.112886 0.64402 D 0.000008 D 0.96259 0.8780 M 0.88031 2.925 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 D 0.96452 0.9335 10 0.87932 D 0 -8.6114 19.4372 0.94801 0.0:1.0:0.0:0.0 . 268 Q8IUQ0 CLVS1_HUMAN S 268 ENSP00000428402:P268S;ENSP00000325506:P268S ENSP00000325506:P268S P + 1 0 CLVS1 62533480 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.236000 0.78154 2.827000 0.97445 0.650000 0.86243 CCC CLVS1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378323.1 + ENST00000519846.1 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW G6PC3 92579 broad.mit.edu 37 17 42153351 42153351 + Silent SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr17:42153351C>T ENST00000269097.4 + 6.0 1212 c.981C>T c.(979-981)ctC>ctT p.L327L NM_138387.3 NP_612396.1 Q9BUM1 G6PC3_HUMAN glucose 6 phosphatase, catalytic, 3 327.0 carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) glucose-6-phosphatase activity (GO:0004346) endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 11.0 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.113) TCCTGGCCCTCGTGCCCTGGG 0.592 0 128.0 118.0 121.0 17 42153351.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC021574 CCDS11476.1 17q21.31 2014-09-17 ENSG00000141349 92579.0 92579.0 24861.0 protein-coding gene gene with protein product 611045.0 12370122, 12965222 Standard NM_138387 NM_138387 Approved UGRP uc002iex.3 Q9BUM1 ENST00000269097.4:c.981C>T 17.__UNKNOWN__:g.42153351C>T Q8WU15 __UNKNOWN__ CCDS11476.1 G6PC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457675.1 + ENST00000269097.4 Silent SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW CD1B 910 broad.mit.edu 37 1 158300810 158300810 + Missense_Mutation SNP G G C TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr1:158300810G>C ENST00000368168.3 - 2.0 211 c.104C>G c.(103-105)tCc>tGc p.S35C NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 35.0 antigen processing and presentation (GO:0019882)|immune response (GO:0006955) cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886) breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30.0 all_hematologic(112;0.0378) ATTGGTAAAGGACGAGGTCTG 0.493 0 237.0 227.0 231.0 1 158300810.0 2203.0 4300.0 6503.0 SO:0001583 missense M28826 CCDS1176.1 1q23.1 2014-01-14 2006-03-28 ENSG00000158485 ENSG00000158485 910.0 910.0 """CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing""" 1635.0 protein-coding gene gene with protein product 188360.0 """CD1B antigen, b polypeptide"", ""CD1b antigen""" CD1 2447586 Standard NM_001764 NM_001764 Approved uc001frx.3 P29016 OTTHUMG00000017513 ENST00000368168.3:c.104C>G 1.__UNKNOWN__:g.158300810G>C ENSP00000357150:p.Ser35Cys Q5TDK9|Q5TDL0|Q9UMM2 __UNKNOWN__ CCDS1176.1 . . . . . . . . . . G 10.28 1.305750 0.23736 . . ENSG00000158485 ENST00000368168 T 0.08282 3.11 4.15 2.24 0.28232 MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1); 0.577232 0.14629 N 0.307928 T 0.13157 0.0319 M 0.84326 2.69 0.09310 N 1 D;P 0.89917 1.0;0.921 D;P 0.71870 0.975;0.448 T 0.07290 -1.0780 10 0.66056 D 0.02 -8.5429 4.8925 0.13733 0.1104:0.0:0.6785:0.211 . 35;35 B4E0D2;P29016 .;CD1B_HUMAN C 35 ENSP00000357150:S35C ENSP00000357150:S35C S - 2 0 CD1B 156567434 0.024000 0.19004 0.015000 0.15790 0.050000 0.14768 2.128000 0.42045 0.501000 0.28013 0.655000 0.94253 TCC CD1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000046350.2 - ENST00000368168.3 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW OR2J3 442186 broad.mit.edu 37 6 29080275 29080275 + Missense_Mutation SNP T T C TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr6:29080275T>C ENST00000377169.1 + 1.0 608 c.608T>C c.(607-609)aTg>aCg p.M203T NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 203.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24.0 CTGACCCTCATGATCACAAGC 0.473 0 101.0 112.0 108.0 6 29080275.0 1332.0 2601.0 3933.0 SO:0001583 missense CCDS43433.1 6p22.2-p21.31 2012-08-09 ENSG00000204701 ENSG00000204701 442186.0 442186.0 """GPCR / Class A : Olfactory receptors""" 8261.0 protein-coding gene gene with protein product 615016.0 Standard NM_001005216 Approved OR6-6 uc011dll.2 O76001 OTTHUMG00000031092 ENST00000377169.1:c.608T>C 6.__UNKNOWN__:g.29080275T>C ENSP00000366374:p.Met203Thr B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5 __UNKNOWN__ CCDS43433.1 . . . . . . . . . . T 0.911 -0.719116 0.03182 . . ENSG00000204701 ENST00000377169 T 0.00044 8.83 2.78 1.48 0.22813 GPCR, rhodopsin-like superfamily (1); . . . . T 0.00039 0.0001 N 0.03281 -0.365 0.09310 N 1 B 0.13594 0.008 B 0.16722 0.016 T 0.19224 -1.0312 9 0.72032 D 0.01 . 7.5106 0.27571 0.1931:0.0:0.0:0.8069 . 203 O76001 OR2J3_HUMAN T 203 ENSP00000366374:M203T ENSP00000366374:M203T M + 2 0 OR2J3 29188254 0.134000 0.22483 0.020000 0.16555 0.045000 0.14185 2.310000 0.43708 0.235000 0.21160 0.358000 0.22013 ATG OR2J3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076132.2 + ENST00000377169.1 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW AKAP12 9590 broad.mit.edu 37 6 151672064 151672064 + Silent SNP G G A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr6:151672064G>A ENST00000253332.1 + 3.0 2727 c.2538G>A c.(2536-2538)gtG>gtA p.V846V AKAP12_ENST00000359755.5_Silent_p.V741V|AKAP12_ENST00000402676.2_Silent_p.V846V|AKAP12_ENST00000354675.6_Silent_p.V748V Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 846.0 G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925) adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018) 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) 68.0 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) TCCCGGCCGTGGTCCCTCTGT 0.557 Melanoma(141;1616 1805 10049 24534 51979) 0 92.0 103.0 99.0 6 151672064.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U81607 CCDS5229.1, CCDS5230.1 6q24-q25 2011-07-01 2008-08-29 ENSG00000131016 ENSG00000131016 9590.0 9590.0 """A-kinase anchor proteins""" 370.0 protein-coding gene gene with protein product """gravin"", ""Src-Suppressed C Kinase Substrate""" 604698.0 """A kinase (PRKA) anchor protein (gravin) 12""" 9000000 Standard NM_144497 Approved AKAP250, SSeCKS uc011eep.2 Q02952 OTTHUMG00000015833 ENST00000253332.1:c.2538G>A 6.__UNKNOWN__:g.151672064G>A O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970 __UNKNOWN__ CCDS5229.1 AKAP12-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000042712.1 + ENST00000253332.1 Silent SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW NOMO2 283820 broad.mit.edu 37 16 18532210 18532210 + Missense_Mutation SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr16:18532210C>T ENST00000330537.6 - 19.0 2320 c.2150G>A c.(2149-2151)cGc>cAc p.R717H NOMO2_ENST00000543392.1_Missense_Mutation_p.R550H|NOMO2_ENST00000381474.3_Missense_Mutation_p.R717H NM_173614.2 NP_775885.1 Q5JPE7 NOMO2_HUMAN NODAL modulator 2 717.0 endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246) endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1) 20.0 CTCCTGCCTGCGGGCCTCGAT 0.572 0 SO:0001583 missense AL512687 CCDS10570.1, CCDS32394.1 16p12.3 2008-02-05 ENSG00000185164 ENSG00000185164 283820.0 283820.0 22652.0 protein-coding gene gene with protein product 609158.0 15257293 Standard NM_001004060 NM_001004060 Approved NOMO, PM5 uc002dfe.3 Q5JPE7 OTTHUMG00000131366 ENST00000330537.6:c.2150G>A 16.__UNKNOWN__:g.18532210C>T ENSP00000331851:p.Arg717His Q4G177 __UNKNOWN__ CCDS10570.1 . . . . . . . . . . . 23.6 4.431639 0.83776 . . ENSG00000185164 ENST00000330537;ENST00000381474;ENST00000543392 T;T;T 0.04317 3.67;3.65;3.65 3.37 3.37 0.38596 . 0.000000 0.85682 D 0.000000 T 0.07999 0.0200 N 0.08118 0 0.80722 D 1 D;D 0.89917 1.0;0.999 D;P 0.72075 0.976;0.813 T 0.52480 -0.8570 10 0.41790 T 0.15 -17.7164 14.2293 0.65879 0.0:1.0:0.0:0.0 . 550;717 Q4G177;Q5JPE7 .;NOMO2_HUMAN H 717;717;550 ENSP00000331851:R717H;ENSP00000370883:R717H;ENSP00000439970:R550H ENSP00000331851:R717H R - 2 0 NOMO2 18439711 1.000000 0.71417 1.000000 0.80357 0.824000 0.46624 6.873000 0.75541 1.845000 0.53610 0.455000 0.32223 CGC NOMO2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254155.1 - ENST00000330537.6 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW RP11-307N16.6 221178 broad.mit.edu 37 13 24858319 24858319 + Silent SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr13:24858319C>T ENST00000382141.4 + 6.0 2423 c.1845C>T c.(1843-1845)aaC>aaT p.N615N SPATA13_ENST00000382108.3_Silent_p.N737N|SPATA13_ENST00000424834.2_Silent_p.N737N|SPATA13_ENST00000399949.2_Silent_p.N34N|SPATA13_ENST00000382095.4_Silent_p.N112N|SPATA13_ENST00000343003.6_Silent_p.N56N|SPATA13_ENST00000409126.1_Silent_p.N34N TGGATGACAACGgtagtgagg 0.493 0 T , 1,4405 2.1+/-5.4 0,1,2202 78.0 67.0 70.0 2211,336 -10.0 0.0 13 70.0 0,8600 0,0,4300 no coding-synonymous,coding-synonymous SPATA13 NM_001166271.1,NM_153023.2 , 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 , 737/1278,112/653 24858319.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant ENST00000382141.4:c.1845C>T 13.__UNKNOWN__:g.24858319C>T __UNKNOWN__ . . . . . . . . . . c 0.206 -1.040986 0.02013 2.27E-4 0.0 ENSG00000182957 ENST00000424834 . . . 5.65 -9.98 0.00438 . . . . . T 0.69735 0.3144 . . . 0.41835 D 0.990096 . . . . . . T 0.78071 -0.2347 4 . . . . 20.865 0.99795 0.0:0.2172:0.0:0.7828 . . . . W 775 . . R + 1 2 SPATA13 23756319 0.018000 0.18449 0.028000 0.17463 0.116000 0.19942 -1.365000 0.02587 -2.529000 0.00492 -2.133000 0.00342 CGG RP11-307N16.6-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay protein_coding OTTHUMT00000472022.1 + ENST00000382141.4 Silent SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW TM4SF2 6103 broad.mit.edu 37 X 38156540 38156540 + Missense_Mutation SNP G G T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chrX:38156540G>T ENST00000465127.1 + 4.0 278 RPGR_ENST00000342811.3_Missense_Mutation_p.P471T|RPGR_ENST00000378505.2_Missense_Mutation_p.P471T|RPGR_ENST00000339363.3_Missense_Mutation_p.P471T|RPGR_ENST00000338898.3_Missense_Mutation_p.P471T|RPGR_ENST00000318842.7_Missense_Mutation_p.P471T|RPGR_ENST00000309513.3_Missense_Mutation_p.P409T haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 11.0 ATGTTACCTGGTTCCTCTGGC 0.393 0 108.0 100.0 102.0 X 38156540.0 2202.0 4300.0 6502.0 SO:0001627 intron_variant ENST00000465127.1:c.172-368835G>T X.__UNKNOWN__:g.38156540G>T __UNKNOWN__ . . . . . . . . . . G 10.26 1.302512 0.23736 . . ENSG00000156313 ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505 T;T;T;T;T;T 0.50001 1.27;0.89;0.76;1.35;1.34;1.28 4.75 1.16 0.20824 . 0.686688 0.13173 N 0.408136 T 0.49779 0.1577 M 0.69823 2.125 0.09310 N 1 P;D 0.62365 0.882;0.991 P;P 0.57101 0.449;0.813 T 0.44544 -0.9321 10 0.07482 T 0.82 . 3.2833 0.06922 0.3111:0.2081:0.4808:0.0 . 471;471 E9PE28;Q92834-2 .;. T 471;409;471;471;471;471 ENSP00000343671:P471T;ENSP00000308783:P409T;ENSP00000340208:P471T;ENSP00000322219:P471T;ENSP00000339531:P471T;ENSP00000367766:P471T ENSP00000308783:P409T P - 1 0 RPGR 38041484 0.683000 0.27633 0.290000 0.24890 0.047000 0.14425 0.584000 0.23864 0.348000 0.23949 0.596000 0.82720 CCA TM4SF2-001 PUTATIVE basic|appris_principal|readthrough_transcript protein_coding protein_coding OTTHUMT00000363378.1 + ENST00000465127.1 Intron SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW MAGEC1 9947 broad.mit.edu 37 X 140996020 140996020 + Missense_Mutation SNP G G T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chrX:140996020G>T ENST00000285879.4 + 4.0 3116 c.2830G>T c.(2830-2832)Ggc>Tgc p.G944C MAGEC1_ENST00000406005.2_Missense_Mutation_p.G11C NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 944.0 MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}. 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) 127.0 Acute lymphoblastic leukemia(192;6.56e-05) CAGGTACACGGGCTACTTTCC 0.473 HNSCC(15;0.026) 0 146.0 135.0 139.0 X 140996020.0 2203.0 4300.0 6503.0 SO:0001583 missense AF064589 CCDS35417.1 Xq26 2009-03-18 ENSG00000155495 ENSG00000155495 9947.0 9947.0 6812.0 protein-coding gene gene with protein product """cancer/testis antigen family 7, member 1""" 300223.0 9485030, 9618514 Standard NM_005462 NM_005462 Approved MAGE-C1, CT7, MGC39366, CT7.1 uc004fbt.3 O60732 OTTHUMG00000022569 ENST00000285879.4:c.2830G>T X.__UNKNOWN__:g.140996020G>T ENSP00000285879:p.Gly944Cys A0PK03|O75451|Q8TCV4 __UNKNOWN__ CCDS35417.1 . . . . . . . . . . g 7.078 0.569720 0.13560 . . ENSG00000155495 ENST00000285879;ENST00000406005 T;T 0.04809 3.55;3.55 0.837 -0.194 0.13240 . . . . . T 0.11580 0.0282 L 0.48642 1.525 0.09310 N 1 D 0.71674 0.998 D 0.70935 0.971 T 0.17561 -1.0365 8 0.72032 D 0.01 . . . . . 944 O60732 MAGC1_HUMAN C 944;11 ENSP00000285879:G944C;ENSP00000385500:G11C ENSP00000285879:G944C G + 1 0 MAGEC1 140823686 0.000000 0.05858 0.001000 0.08648 0.218000 0.24690 -0.185000 0.09684 -0.128000 0.11641 0.279000 0.19357 GGC MAGEC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000058604.1 + ENST00000285879.4 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW COL24A1 255631 broad.mit.edu 37 1 86210382 86210382 + Missense_Mutation SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr1:86210382C>T ENST00000370571.2 - 57.0 5005 c.4639G>A c.(4639-4641)Gat>Aat p.D1547N COL24A1_ENST00000436319.1_Missense_Mutation_p.D1526N NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1547.0 Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}. extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244) collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201) 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) 101.0 all cancers(265;0.0627)|Epithelial(280;0.0689) TTAAGTAAATCTTTGCAGATT 0.368 0 166.0 154.0 157.0 1 86210382.0 1863.0 4098.0 5961.0 SO:0001583 missense AF410793 CCDS41353.1 1p22.3-p22.2 2013-01-16 ENSG00000171502 ENSG00000171502 255631.0 255631.0 """Collagens""" 20821.0 protein-coding gene gene with protein product 610025.0 Standard NM_152890 NM_152890 Approved uc001dlj.3 Q17RW2 OTTHUMG00000010629 ENST00000370571.2:c.4639G>A 1.__UNKNOWN__:g.86210382C>T ENSP00000359603:p.Asp1547Asn C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5 __UNKNOWN__ CCDS41353.1 . . . . . . . . . . C 21.8 4.209081 0.79240 . . ENSG00000171502 ENST00000370571;ENST00000436319 T;T 0.79454 -1.27;-1.27 5.29 5.29 0.74685 Fibrillar collagen, C-terminal (3); 0.000000 0.32488 N 0.006022 D 0.90717 0.7087 M 0.93594 3.435 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.92466 0.5981 10 0.72032 D 0.01 . 19.2988 0.94134 0.0:1.0:0.0:0.0 . 1547;1526 Q17RW2;Q17RW2-2 COOA1_HUMAN;. N 1547;1526 ENSP00000359603:D1547N;ENSP00000392531:D1526N ENSP00000359603:D1547N D - 1 0 COL24A1 85982970 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 7.445000 0.80570 2.635000 0.89317 0.563000 0.77884 GAT COL24A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000029335.4 - ENST00000370571.2 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW CLCN1 1180 broad.mit.edu 37 7 143018823 143018823 + Missense_Mutation SNP A A T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr7:143018823A>T ENST00000343257.2 + 5.0 665 c.578A>T c.(577-579)gAa>gTa p.E193V CLCN1_ENST00000495612.1_3'UTR NM_000083.2 NP_000074 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 193.0 chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810) chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383) adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247) 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) 58.0 Melanoma(164;0.205) GGAATCCCCGAAATGAAGACA 0.498 0 94.0 82.0 86.0 7 143018823.0 2203.0 4300.0 6503.0 SO:0001583 missense Z25884 CCDS5881.1 7q12 2012-09-26 2012-02-23 ENSG00000188037 ENSG00000188037 1180.0 1180.0 """Ion channels / Chloride channels : Voltage-sensitive""" 2019.0 protein-coding gene gene with protein product """Thomsen disease, autosomal dominant""" 118425.0 """chloride channel 1, skeletal muscle""" 1379744 Standard NM_000083 NM_000083 Approved CLC1, ClC-1 uc003wcr.1 P35523 OTTHUMG00000152695 ENST00000343257.2:c.578A>T 7.__UNKNOWN__:g.143018823A>T ENSP00000339867:p.Glu193Val A4D2H5|Q2M202 __UNKNOWN__ CCDS5881.1 . . . . . . . . . . . 24.0 4.478175 0.84747 . . ENSG00000188037 ENST00000343257 D 0.94537 -3.45 5.02 5.02 0.67125 Chloride channel, core (2); 0.000000 0.85682 D 0.000000 D 0.97598 0.9213 M 0.90814 3.15 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.98574 1.0647 10 0.87932 D 0 . 14.808 0.69971 1.0:0.0:0.0:0.0 . 193 P35523 CLCN1_HUMAN V 193 ENSP00000339867:E193V ENSP00000339867:E193V E + 2 0 CLCN1 142728945 1.000000 0.71417 0.992000 0.48379 0.930000 0.56654 9.339000 0.96797 1.911000 0.55334 0.454000 0.30748 GAA CLCN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000327420.1 + ENST00000343257.2 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW KRT74 121391 broad.mit.edu 37 12 52967343 52967343 + Silent SNP G G A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr12:52967343G>A ENST00000305620.2 - 1.0 266 c.219C>T c.(217-219)taC>taT p.Y73Y KRT74_ENST00000549343.1_Silent_p.Y73Y NM_175053.3 NP_778223.2 Q7RTS7 K2C74_HUMAN keratin 74 73.0 Gly-rich.|Head. intermediate filament cytoskeleton organization (GO:0045104) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198) kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28.0 BRCA - Breast invasive adenocarcinoma(357;0.191) GCCTGAAGCCGTAACCTCCAG 0.617 0 41.0 48.0 46.0 12 52967343.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BK000977 CCDS8832.1 12q13.13 2013-06-25 ENSG00000170484 ENSG00000170484 121391.0 121391.0 """-"", ""Intermediate filaments type II, keratins (basic)""" 28929.0 protein-coding gene gene with protein product 608248.0 12648212, 16831889 Standard NM_175053 NM_175053 Approved K6IRS4, KRT5C, KRT6IRS4 uc001sap.1 Q7RTS7 OTTHUMG00000169658 ENST00000305620.2:c.219C>T 12.__UNKNOWN__:g.52967343G>A B5MD61|Q86Y45 __UNKNOWN__ CCDS8832.1 KRT74-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405324.1 - ENST00000305620.2 Silent SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW OR2W5 0 broad.mit.edu 37 1 247654533 247654533 + RNA SNP G G T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr1:247654533G>T ENST00000522351.1 + 0.0 164 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, member 5 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39.0 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;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TTGATCTTCTGCATCCTGACC 0.498 0 156.0 139.0 145.0 1 247654533.0 2203.0 4300.0 6503.0 1q44 2013-03-27 2004-03-10 ENSG00000203664 ENSG00000203664 441932.0 441932.0 """GPCR / Class A : Olfactory receptors""" 15424.0 other unknown OR2W5P 12213199 Standard NM_001004698 NM_001004698 Approved OST722 uc001icz.2 A6NFC9 OTTHUMG00000040573 ENST00000522351.1: 1.__UNKNOWN__:g.247654533G>T B9EH85 __UNKNOWN__ OR2W5-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000375789.1 + ENST00000522351.1 RNA SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW RBP3 5949 broad.mit.edu 37 10 48390173 48390173 + Silent SNP G G T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr10:48390173G>T ENST00000224600.4 - 1.0 818 c.705C>A c.(703-705)acC>acA p.T235T NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 235.0 4 X approximate tandem repeats. lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601) extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982) retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236) 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) 59.0 Vitamin A(DB00162) CCACGCCCCTGGTCTGGCTGC 0.667 0 75.0 66.0 69.0 10 48390173.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant M22453 CCDS73119.1 10q11.2 2014-05-06 2001-11-28 ENSG00000107618 ENSG00000265203 5949.0 5949.0 9921.0 protein-coding gene gene with protein product 180290.0 """retinol-binding protein 3, interstitial""" Standard NM_002900 NM_002900 Approved D10S64, D10S65, D10S66, RP66 uc001jez.3 P10745 OTTHUMG00000188321 ENST00000224600.4:c.705C>A 10.__UNKNOWN__:g.48390173G>T Q0QD34|Q5VSR0|Q8IXN0 __UNKNOWN__ CCDS7218.1 RBP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047888.1 - ENST00000224600.4 Silent SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW CD300LB 124599 broad.mit.edu 37 17 72522084 72522084 + Missense_Mutation SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr17:72522084C>T ENST00000392621.1 - 2.0 288 c.284G>A c.(283-285)tGc>tAc p.C95Y CD300LB_ENST00000314401.3_Missense_Mutation_p.C95Y NM_174892.2 NP_777552 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 58.0 Ig-like V-type. cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1) 21.0 GAGGATCTTGCATGTATCCCA 0.542 0 223.0 201.0 208.0 17 72522084.0 2203.0 4300.0 6503.0 SO:0001583 missense AF427618 CCDS11700.1, CCDS11700.2 17q25.1 2013-01-11 2006-03-29 ENSG00000178789 ENSG00000178789 124599.0 124599.0 """Immunoglobulin superfamily / V-set domain containing""" 30811.0 protein-coding gene gene with protein product """triggering receptor expressed on myeloid cells 5""" 610705.0 """CD300 antigen like family member B""" 12975309 Standard NM_174892 NM_174892 Approved TREM5, CLM7 uc002jkx.2 A8K4G0 OTTHUMG00000067606 ENST00000392621.1:c.284G>A 17.__UNKNOWN__:g.72522084C>T ENSP00000376397:p.Cys95Tyr Q1EG73|Q8IX40|Q8N6D1 __UNKNOWN__ CCDS11700.1 . . . . . . . . . . C 10.90 1.481994 0.26598 . . ENSG00000178789 ENST00000392621;ENST00000314401 T 0.04317 3.65 5.05 5.05 0.67936 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.53938 D 0.000042 T 0.35941 0.0949 H 0.97758 4.07 0.38017 D 0.934721 D;D 0.89917 1.0;1.0 D;D 0.97110 0.999;1.0 T 0.61347 -0.7081 10 0.87932 D 0 -2.4659 16.2484 0.82467 0.0:1.0:0.0:0.0 . 95;58 B4DQ71;A8K4G0 .;CLM7_HUMAN Y 58;95 ENSP00000317337:C95Y ENSP00000317337:C95Y C - 2 0 CD300LB 70033679 0.979000 0.34478 0.247000 0.24249 0.003000 0.03518 4.458000 0.60095 2.495000 0.84180 0.563000 0.77884 TGC CD300LB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000145082.2 - ENST00000392621.1 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW DNAH3 55567 broad.mit.edu 37 16 20952798 20952798 + Missense_Mutation SNP A A G TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr16:20952798A>G ENST00000261383.3 - 59.0 11578 c.11579T>C c.(11578-11580)gTc>gCc p.V3860A DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3860.0 cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|microtubule motor activity (GO:0003777) 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) 202.0 GBM - Glioblastoma multiforme(48;0.207) CAACTTCATGACCTCTTCCAG 0.478 0 205.0 192.0 197.0 16 20952798.0 2201.0 4300.0 6501.0 SO:0001583 missense U83574 CCDS10594.1 16p12.2 2008-08-01 2006-09-04 ENSG00000158486 ENSG00000158486 55567.0 55567.0 """Axonemal dyneins""" 2949.0 protein-coding gene gene with protein product 603334.0 """dynein, axonemal, heavy polypeptide 3""" 9256245, 9373155 Standard NM_017539 NM_017539 Approved Dnahc3b, DLP3, Hsadhc3, DKFZp434N074 uc010vbe.2 Q8TD57 OTTHUMG00000090677 ENST00000261383.3:c.11579T>C 16.__UNKNOWN__:g.20952798A>G ENSP00000261383:p.Val3860Ala O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35 __UNKNOWN__ CCDS10594.1 . . . . . . . . . . A 3.764 -0.048959 0.07407 . . ENSG00000158486 ENST00000261383 T 0.08458 3.09 5.79 5.79 0.91817 Dynein heavy chain (1); 0.437310 0.21555 N 0.072669 T 0.11324 0.0276 N 0.25332 0.735 0.58432 D 0.999996 P 0.46952 0.887 P 0.51516 0.672 T 0.28933 -1.0028 10 0.10377 T 0.69 . 16.1303 0.81428 1.0:0.0:0.0:0.0 . 3860 Q8TD57 DYH3_HUMAN A 3860 ENSP00000261383:V3860A ENSP00000261383:V3860A V - 2 0 DNAH3 20860299 0.287000 0.24315 0.072000 0.20136 0.957000 0.61999 4.310000 0.59141 2.218000 0.71995 0.533000 0.62120 GTC DNAH3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207361.1 - ENST00000261383.3 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW C1orf177 163747 broad.mit.edu 37 1 55279581 55279581 + Missense_Mutation SNP C C T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr1:55279581C>T ENST00000371273.3 + 7.0 872 c.857C>T c.(856-858)cCc>cTc p.P286L C1orf177_ENST00000358193.3_Missense_Mutation_p.P286L NM_001110533.1 NP_001104003 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 286.0 breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17.0 TCTAAACTTCCCCGAAACCCG 0.473 0 88.0 95.0 93.0 1 55279581.0 2203.0 4300.0 6503.0 SO:0001583 missense AK097520 CCDS599.1, CCDS44153.1 1p32.3 2012-07-25 ENSG00000162398 ENSG00000162398 163747.0 163747.0 26854.0 protein-coding gene gene with protein product Standard NM_152607 NM_152607 Approved FLJ40201 uc001cyb.4 Q3ZCV2 OTTHUMG00000009986 ENST00000371273.3:c.857C>T 1.__UNKNOWN__:g.55279581C>T ENSP00000360320:p.Pro286Leu B7WPL2|Q8N7Y9 __UNKNOWN__ CCDS44153.1 . . . . . . . . . . C 9.970 1.225282 0.22457 . . ENSG00000162398 ENST00000358193;ENST00000371273 T;T 0.23552 1.9;1.9 4.98 4.98 0.66077 . 0.491436 0.20299 N 0.095066 T 0.34454 0.0898 L 0.50333 1.59 0.24281 N 0.995202 P;P 0.51351 0.944;0.944 P;P 0.50617 0.646;0.646 T 0.14476 -1.0471 10 0.54805 T 0.06 . 13.6147 0.62101 0.0:1.0:0.0:0.0 . 286;286 Q3ZCV2;Q3ZCV2-2 CA177_HUMAN;. L 286 ENSP00000350924:P286L;ENSP00000360320:P286L ENSP00000350924:P286L P + 2 0 C1orf177 55052169 0.344000 0.24827 0.047000 0.18901 0.105000 0.19272 2.504000 0.45416 2.588000 0.87417 0.561000 0.74099 CCC C1orf177-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000027674.1 + ENST00000371273.3 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW LCA5L 150082 broad.mit.edu 37 21 40781999 40781999 + Silent SNP G G A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr21:40781999G>A ENST00000358268.2 - 9.0 1716 c.1188C>T c.(1186-1188)atC>atT p.I396I LCA5L_ENST00000380671.2_Silent_p.I396I|LCA5L_ENST00000495240.1_5'UTR|LCA5L_ENST00000288350.3_Silent_p.I396I|WRB_ENST00000541890.1_Intron O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 396.0 breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 24.0 Prostate(19;1.2e-06) CTTTATGATCGATGTTTCCTG 0.308 0 162.0 147.0 152.0 21 40781999.0 2201.0 4299.0 6500.0 SO:0001819 synonymous_variant AF121781 CCDS13665.1 21q22.2 2007-12-18 2007-12-18 2007-12-18 ENSG00000157578 ENSG00000157578 150082.0 150082.0 1255.0 protein-coding gene gene with protein product """chromosome 21 open reading frame 13""" C21orf13 Standard NM_152505 XM_005260926 Approved MGC33295 uc002yxu.3 O95447 OTTHUMG00000066280 ENST00000358268.2:c.1188C>T 21.__UNKNOWN__:g.40781999G>A D3DSI0|Q3ZCT0 __UNKNOWN__ CCDS13665.1 LCA5L-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000141807.2 - ENST00000358268.2 Silent SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW LYST 1130 broad.mit.edu 37 1 235940409 235940409 + Missense_Mutation SNP A A G TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr1:235940409A>G ENST00000389794.3 - 17.0 5588 c.5414T>C c.(5413-5415)cTg>cCg p.L1805P LYST_ENST00000389793.2_Missense_Mutation_p.L1805P|LYST_ENST00000536965.1_3'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 1805.0 blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456) cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630) 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) 162.0 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) AATTTCGTGCAGAATGCCTTG 0.353 0 108.0 113.0 112.0 1 235940409.0 2203.0 4300.0 6503.0 SO:0001583 missense U70064 CCDS31062.1 1q42.1-q42.2 2014-09-17 2004-12-09 2004-12-10 ENSG00000143669 ENSG00000143669 1130.0 1130.0 """WD repeat domain containing""" 1968.0 protein-coding gene gene with protein product 606897.0 """Chediak-Higashi syndrome 1""" CHS1 8717042, 8896560 Standard NM_000081 Approved CHS uc001hxj.3 Q99698 OTTHUMG00000040527 ENST00000389794.3:c.5414T>C 1.__UNKNOWN__:g.235940409A>G ENSP00000374444:p.Leu1805Pro O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133 __UNKNOWN__ CCDS31062.1 . . . . . . . . . . A 19.31 3.802638 0.70682 . . ENSG00000143669 ENST00000389794;ENST00000389793 T;T 0.65732 -0.17;-0.17 5.52 4.37 0.52481 . 0.215062 0.41500 D 0.000880 T 0.73908 0.3647 M 0.65975 2.015 0.80722 D 1 D 0.65815 0.995 D 0.63283 0.913 T 0.76075 -0.3092 10 0.87932 D 0 . 12.0206 0.53342 0.8704:0.0:0.0:0.1296 . 1805 Q99698 LYST_HUMAN P 1805 ENSP00000374444:L1805P;ENSP00000374443:L1805P ENSP00000374443:L1805P L - 2 0 LYST 234007032 1.000000 0.71417 0.996000 0.52242 0.913000 0.54294 8.803000 0.91915 0.990000 0.38787 0.528000 0.53228 CTG LYST-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097533.5 - ENST00000389794.3 Missense_Mutation SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW AURKC 6795 broad.mit.edu 37 19 57743156 57743156 + Splice_Site SNP G G T TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr19:57743156G>T ENST00000302804.7 + 2.0 290 c.e2+1 AURKC_ENST00000599062.1_Splice_Site|AURKC_ENST00000598785.1_Splice_Site|AURKC_ENST00000415300.2_Splice_Site|AURKC_ENST00000448930.1_Splice_Site NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256) chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712) breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25.0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) gcccagcCATGTGAGTCCCTT 0.577 0 104.0 102.0 103.0 19 57743156.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant CCDS33128.1, CCDS46205.1, CCDS46206.1 19q13.43 2013-09-19 2003-07-21 2003-07-23 ENSG00000105146 ENSG00000105146 6795.0 6795.0 11391.0 protein-coding gene gene with protein product 603495.0 """serine/threonine kinase 13 (aurora/IPL1-like)""" STK13 9799611 Standard NM_003160 XR_430209 Approved AurC, ARK3 uc002qoe.3 Q9UQB9 OTTHUMG00000183106 ENST00000302804.7:c.104+1G>T 19.__UNKNOWN__:g.57743156G>T O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5 __UNKNOWN__ CCDS33128.1 . . . . . . . . . . G 2.710 -0.269055 0.05716 . . ENSG00000105146 ENST00000415300;ENST00000448930;ENST00000302804 . . . 2.72 0.579 0.17397 . . . . . . . . . . . 0.24208 N 0.995486 . . . . . . . . . . . . . . 4.806 0.13321 0.2984:0.0:0.7016:0.0 . . . . . -1 . . . + . . AURKC 62434968 0.676000 0.27567 0.068000 0.19968 0.002000 0.02628 0.657000 0.24963 0.241000 0.21283 -0.373000 0.07131 . AURKC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000465089.1 Intron + ENST00000302804.7 Splice_Site SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW PGM2 55276 broad.mit.edu 37 4 37836301 37836301 + Frame_Shift_Del DEL G G - TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr4:37836301delG ENST00000381967.4 + 3.0 411 c.311delG c.(310-312)agtfs p.S104fs PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_Intron NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 104.0 carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973) breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19.0 ATCGTGATCAGTTTTGACGCC 0.338 0 91.0 102.0 99.0 4 37836301.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant BC010087 CCDS3443.1 4p14 2012-10-02 ENSG00000169299 ENSG00000169299 55276.0 55276.0 5.4.2.2 8906.0 protein-coding gene gene with protein product """phosphopentomutase""" 172000.0 9549096 Standard NM_018290 NM_018290 Approved FLJ10983 uc011byb.1 Q96G03 OTTHUMG00000097813 ENST00000381967.4:c.311delG 4.__UNKNOWN__:g.37836301delG ENSP00000371393:p.Ser104fs B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22 __UNKNOWN__ CCDS3443.1 PGM2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000215079.2 + ENST00000381967.4 Frame_Shift_Del DEL PCPG-TCGA-RW-A680-Normal-SM-5EQGW PRTG 283659 broad.mit.edu 37 15 56032588 56032605 + In_Frame_Del DEL GCAAGATGAGCTTTTTGA GCAAGATGAGCTTTTTGA - TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr15:56032588_56032605delGCAAGATGAGCTTTTTGA ENST00000561292.1 - 2.0 530_547 c.372_389delTCAAAAAGCTCATCTTGC c.(370-390)agtcaaaaagctcatcttgcc>agc p.QKAHLA125del PRTG_ENST00000389286.4_In_Frame_Del_p.QKAHLA125del protogenin breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41.0 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) ACTTGATAAGGCAAGATGAGCTTTTTGACTAAGAATGG 0.372 0 SO:0001651 inframe_deletion AK098622 CCDS42040.1 15q21.3 2013-02-11 2010-06-24 ENSG00000166450 ENSG00000166450 283659.0 283659.0 """Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 26373.0 protein-coding gene gene with protein product """immunoglobulin superfamily, DCC subclass, member 5""" 613261.0 """protogenin homolog (Gallus gallus)""" Standard NM_173814 NM_173814 Approved FLJ25756, IGDCC5 uc002adg.3 Q2VWP7 ENST00000561292.1:c.372_389delTCAAAAAGCTCATCTTGC 15.__UNKNOWN__:g.56032588_56032605delGCAAGATGAGCTTTTTGA ENSP00000453335:p.Gln125_Ala130del __UNKNOWN__ PRTG-004 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000419360.1 - ENST00000561292.1 In_Frame_Del DEL PCPG-TCGA-RW-A680-Normal-SM-5EQGW Unknown 0 bcgsc.ca 37 15 78190593 78190593 + RNA SNP G G A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr15:78190593G>A LINGO1 (78723 upstream) : CSPG4P13 (3409 downstream) AGCCCACCTGGAGGCCACCCT 0.602 0 SO:0001628 intergenic_variant 15.__UNKNOWN__:g.78190593G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW SLC2A6 11182 bcgsc.ca 37 9 136344186 136344186 + Missense_Mutation SNP G G A TCGA-RW-A680-01A-11D-A35D-08 TCGA-RW-A680-10B-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 077f4d33-fea4-4312-895b-f518b45ca082 35b38d0c-514b-4879-939f-ffa2d8872058 g.chr9:136344186G>A ENST00000371899.4 - 0.0 73 SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_5'UTR NM_017585.3 NP_060055.2 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose transporter), member 6 glucose transport (GO:0015758)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) glucose transmembrane transporter activity (GO:0005355) cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1) 10.0 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) CTGCATGGCCGGGTCTCTCTC 0.751 0 6.0 8.0 8.0 9 136344186.0 2093.0 4182.0 6275.0 SO:0001623 5_prime_UTR_variant AJ011372 CCDS6975.1, CCDS48052.1 9q34 2013-05-22 ENSG00000160326 ENSG00000160326 11182.0 11182.0 """Solute carriers""" 11011.0 protein-coding gene gene with protein product 606813 10970791 Standard NM_017585 NM_001145099 Approved GLUT9, GLUT6, HSA011372 uc004cee.3 Q9UGQ3 OTTHUMG00000020874 ENST00000371899.4:c.-5C>T 9.__UNKNOWN__:g.136344186G>A A6NNU6|Q5SXD7|Q8NCC2 __UNKNOWN__ CCDS6975.1 SLC2A6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054909.1 - ENST00000371899.4 5'UTR SNP PCPG-TCGA-RW-A680-Normal-SM-5EQGW TTN 7273 broad.mit.edu 37 2 179455966 179455966 + Silent SNP T T A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr2:179455966T>A ENST00000589042.1 - 304.0 60710 c.60486A>T c.(60484-60486)gtA>gtT p.V20162V TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Silent_p.V17594V|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.V11222V|TTN_ENST00000460472.2_Silent_p.V11097V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.V11289V|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Silent_p.V18521V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18521.0 Fibronectin type-III 46. {ECO:0000255|PROSITE-ProRule:PRU00316}. adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) 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) 1448.0 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATGTACGGCTACTGTTTTGC 0.438 0 227.0 230.0 229.0 2 179455966.0 1915.0 4126.0 6041.0 SO:0001819 synonymous_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273.0 7273.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403.0 protein-coding gene gene with protein product 188840.0 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_133378 NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.60486A>T 2.__UNKNOWN__:g.179455966T>A A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 __UNKNOWN__ CCDS59435.1 TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 - ENST00000589042.1 Silent SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 TTLL3 26140 broad.mit.edu 37 3 9859359 9859359 + Missense_Mutation SNP C C T TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr3:9859359C>T ENST00000426895.4 + 5.0 794 c.775C>T c.(775-777)Ccg>Tcg p.P259S TTLL3_ENST00000427853.3_5'UTR|TTLL3_ENST00000547186.1_Missense_Mutation_p.P116S|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.P210S|TTLL3_ENST00000397241.1_5'UTR Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 116.0 TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}. axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094) axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630) protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736) p.P116S(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26.0 Medulloblastoma(99;0.227) CCGGAATTTGCCGTGGTTTGA 0.547 1 Substitution - Missense(1) lung(1) 170.0 158.0 162.0 3 9859359.0 2057.0 4209.0 6266.0 SO:0001583 missense CCDS43048.1, CCDS43048.2 3p25.3 2013-02-14 ENSG00000214021 ENSG00000214021 26140.0 26140.0 """Tubulin tyrosine ligase-like family""" 24483.0 protein-coding gene gene with protein product 11054573 Standard NM_001025930.2 NR_037162 Approved DKFZP434B103, HOTTL uc003btg.4 Q9Y4R7 OTTHUMG00000128439 ENST00000426895.4:c.775C>T 3.__UNKNOWN__:g.9859359C>T ENSP00000392549:p.Pro259Ser Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99 __UNKNOWN__ CCDS43048.2 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 20.5|20.5 3.999438|3.999438 0.74818|0.74818 .|. .|. ENSG00000214021|ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021 ENST00000310252;ENST00000452823|ENST00000397256;ENST00000417065;ENST00000426895;ENST00000547186;ENST00000426827;ENST00000443148 .|T;T;T;T;T;T .|0.42131 .|3.56;0.98;3.53;3.71;3.19;3.76 5.06|5.06 5.06|5.06 0.68205|0.68205 .|. .|1.037930 .|0.07660 .|U .|0.933401 T|T 0.49304|0.49304 0.1549|0.1549 M|M 0.71581|0.71581 2.175|2.175 0.80722|0.80722 D|D 1|1 .|B;B .|0.18310 .|0.017;0.027 .|B;B .|0.20577 .|0.03;0.03 T|T 0.40421|0.40421 -0.9564|-0.9564 5|10 .|0.21540 .|T .|0.41 .|. 18.0543|18.0543 0.89360|0.89360 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|55;116 .|B4DM47;Q9Y4R7 .|.;TTLL3_HUMAN V|S 71;66|210;116;259;116;159;54 .|ENSP00000380427:P210S;ENSP00000408128:P116S;ENSP00000392549:P259S;ENSP00000446659:P116S;ENSP00000389904:P159S;ENSP00000398097:P54S .|ENSP00000380427:P210S A|P +|+ 2|1 0|0 TTLL3|ARPC4-TTLL3;TTLL3 9834359|9834359 1.000000|1.000000 0.71417|0.71417 0.986000|0.986000 0.45419|0.45419 0.986000|0.986000 0.74619|0.74619 5.259000|5.259000 0.65485|0.65485 2.344000|2.344000 0.79699|0.79699 0.591000|0.591000 0.81541|0.81541 GCC|CCG TTLL3-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000258268.5 + ENST00000426895.4 Missense_Mutation SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 TRBV5-7 0 broad.mit.edu 37 7 142111680 142111680 + RNA SNP A A C TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr7:142111680A>C ENST00000390378.1 - 0.0 55 T cell receptor beta variable 5-7 (non-functional) TCCAGCGTCCACTGGGCCTGT 0.552 0 118.0 114.0 115.0 7 142111680.0 1974.0 4166.0 6140.0 L36092 7q34 2012-02-07 2008-09-11 ENSG00000211731 ENSG00000211731 28608.0 28608.0 """T cell receptors / TRB locus""" 12224.0 other T cell receptor gene """T cell receptor beta variable 5-7""" 8650574 Standard NG_001333 NG_001333 Approved TRBV57, TCRBV5S7, TCRBV5S7P OTTHUMG00000158897 ENST00000390378.1: 7.__UNKNOWN__:g.142111680A>C __UNKNOWN__ TRBV5-7-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene TR_V_gene OTTHUMT00000352509.1 - ENST00000390378.1 RNA SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 SPTBN2 6712 broad.mit.edu 37 11 66457285 66457285 + Silent SNP C C A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr11:66457285C>A ENST00000533211.1 - 29.0 6271 c.5940G>T c.(5938-5940)gcG>gcT p.A1980A SPTBN2_ENST00000529997.1_Silent_p.A1980A|SPTBN2_ENST00000309996.2_Silent_p.A1980A O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1980.0 actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192) apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091) actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200) autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74.0 CCTCCTCGGCCGCATAGTGGC 0.602 0 90.0 99.0 96.0 11 66457285.0 2200.0 4295.0 6495.0 SO:0001819 synonymous_variant AB008567, AF026487, AF026488, AF079569 CCDS8150.1 11q13.2 2013-01-10 ENSG00000173898 ENSG00000173898 6712.0 6712.0 """Pleckstrin homology (PH) domain containing""" 11276.0 protein-coding gene gene with protein product 604985.0 """spinocerebellar ataxia 5""" SCA5 9826670, 16429157 Standard NM_006946 NM_006946 Approved uc001ojd.3 O15020 OTTHUMG00000167262 ENST00000533211.1:c.5940G>T 11.__UNKNOWN__:g.66457285C>A O14872|O14873 __UNKNOWN__ CCDS8150.1 SPTBN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393892.2 - ENST00000533211.1 Silent SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 PNPT1 87178 broad.mit.edu 37 2 55900135 55900135 + Silent SNP T T C TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr2:55900135T>C ENST00000447944.2 - 9.0 845 c.759A>G c.(757-759)caA>caG p.Q253Q NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 253.0 cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928) cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739) 3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654) cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27.0 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GAATTATTTGTTGGGTATATT 0.388 0 124.0 131.0 129.0 2 55900135.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC053660 CCDS1856.1 2p15 2013-01-08 ENSG00000138035 ENSG00000138035 87178.0 87178.0 23166.0 protein-coding gene gene with protein product """polynucleotide phosphorylase"", ""3'-5' RNA exonuclease""" 610316.0 """deafness, autosomal recessive 70""" DFNB70 12419256 Standard NM_033109 NM_033109 Approved PNPase, OLD35, old-35 uc002rzf.3 Q8TCS8 OTTHUMG00000129335 ENST00000447944.2:c.759A>G 2.__UNKNOWN__:g.55900135T>C Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0 __UNKNOWN__ CCDS1856.1 PNPT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251481.2 - ENST00000447944.2 Silent SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 FAM193B 54540 broad.mit.edu 37 5 176952164 176952164 + Missense_Mutation SNP C C T TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr5:176952164C>T ENST00000514747.1 - 6.0 1366 c.1318G>A c.(1318-1320)Gca>Aca p.A440T FAM193B_ENST00000443375.2_Missense_Mutation_p.A407T|FAM193B_ENST00000329540.5_Missense_Mutation_p.A66T NM_001190946.1 NP_001177875.1 Q96PV7 F193B_HUMAN family with sequence similarity 193, member B 520.0 cytoplasm (GO:0005737)|nucleus (GO:0005634) kidney(1)|large_intestine(3) 4.0 ACACGATTTGCCTGCTTTAGA 0.577 0 29.0 30.0 29.0 5 176952164.0 1958.0 4145.0 6103.0 SO:0001583 missense CCDS54954.1 5q35 2010-02-17 ENSG00000146067 ENSG00000146067 54540.0 54540.0 25524.0 protein-coding gene gene with protein product 615813.0 11572484 Standard NM_019057 NR_024019 Approved KIAA1931, FLJ10404 uc003mhu.3 Q96PV7 OTTHUMG00000163396 ENST00000514747.1:c.1318G>A 5.__UNKNOWN__:g.176952164C>T ENSP00000422131:p.Ala440Thr E9PET5|Q9NW00 __UNKNOWN__ CCDS54954.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 4.305|4.305 0.055904|0.055904 0.08291|0.08291 .|. .|. ENSG00000146067|ENSG00000146067 ENST00000514747;ENST00000443375;ENST00000329540|ENST00000524677 T;T;T|. 0.44083|. 0.93;0.95;0.95|. 5.65|5.65 2.88|2.88 0.33553|0.33553 .|. 1.171480|. 0.05823|. N|. 0.616041|. T|T 0.16811|0.16811 0.0404|0.0404 N|N 0.04508|0.04508 -0.205|-0.205 0.09310|0.09310 N|N 1|1 B;B;B|. 0.12013|. 0.005;0.005;0.001|. B;B;B|. 0.08055|. 0.003;0.003;0.003|. T|T 0.20075|0.20075 -1.0286|-1.0286 10|5 0.16896|. T|. 0.51|. 2.4304|2.4304 8.761|8.761 0.34674|0.34674 0.0:0.6679:0.0:0.3321|0.0:0.6679:0.0:0.3321 .|. 440;66;407|. E9PET5;E7ER81;E9PEZ8|. .;.;.|. T|D 440;407;66|125 ENSP00000422131:A440T;ENSP00000410098:A407T;ENSP00000332014:A66T|. ENSP00000332014:A66T|. A|G -|- 1|2 0|0 FAM193B|FAM193B 176884770|176884770 0.009000|0.009000 0.17119|0.17119 0.706000|0.706000 0.30403|0.30403 0.239000|0.239000 0.25481|0.25481 0.736000|0.736000 0.26130|0.26130 1.388000|1.388000 0.46506|0.46506 0.563000|0.563000 0.77884|0.77884 GCA|GGC FAM193B-003 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000373121.1 - ENST00000514747.1 Missense_Mutation SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 CLCA1 1179 broad.mit.edu 37 1 86934788 86934788 + Missense_Mutation SNP A A C TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr1:86934788A>C ENST00000234701.3 + 2.0 485 c.134A>C c.(133-135)gAa>gCa p.E45A CLCA1_ENST00000394711.1_Missense_Mutation_p.E45A A8K7I4 CLCA1_HUMAN chloride channel accessory 1 45.0 calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589) chloride channel activity (GO:0005254) NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38.0 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) AATGTGCCAGAAGATGAAACA 0.383 0 109.0 102.0 104.0 1 86934788.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS709.1 1p22.3 2012-02-26 2009-01-29 ENSG00000016490 ENSG00000016490 1179.0 1179.0 2015.0 protein-coding gene gene with protein product 603906.0 """chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1""" 9828122 Standard NM_001285 NM_001285 Approved CaCC, CLCRG1 uc001dlt.3 A8K7I4 OTTHUMG00000010254 ENST00000234701.3:c.134A>C 1.__UNKNOWN__:g.86934788A>C ENSP00000234701:p.Glu45Ala B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6 __UNKNOWN__ CCDS709.1 . . . . . . . . . . A 22.6 4.310106 0.81358 . . ENSG00000016490 ENST00000234701;ENST00000394711 T;T 0.20463 2.07;2.07 5.96 5.96 0.96718 Chloride channel calcium-activated (1); 0.000000 0.85682 D 0.000000 T 0.46444 0.1393 M 0.88979 2.995 0.40899 D 0.984134 D 0.89917 1.0 D 0.97110 1.0 T 0.57653 -0.7774 10 0.87932 D 0 -33.4244 15.4272 0.75061 1.0:0.0:0.0:0.0 . 45 A8K7I4 CLCA1_HUMAN A 45 ENSP00000234701:E45A;ENSP00000378200:E45A ENSP00000234701:E45A E + 2 0 CLCA1 86707376 1.000000 0.71417 1.000000 0.80357 0.934000 0.57294 5.882000 0.69714 2.284000 0.76573 0.528000 0.53228 GAA CLCA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000028277.1 + ENST00000234701.3 Missense_Mutation SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 CTBP1 1487 broad.mit.edu 37 4 1235191 1235191 + Translation_Start_Site SNP G G T TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr4:1235191G>T ENST00000382952.3 - 0.0 313 CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000290921.6_Intron|CTBP1_ENST00000510568.1_De_novo_Start_InFrame NM_001012614.1 NP_001012632.1 Q13363 CTBP1_HUMAN C-terminal binding protein 1 Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872) cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 8.0 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) aggatccccaggcagaaCCGC 0.527 0 125.0 114.0 117.0 4 1235191.0 692.0 1591.0 2283.0 U37408 CCDS3348.1, CCDS43203.1 4p16 2008-02-05 ENSG00000159692 ENSG00000159692 1487.0 1487.0 2494.0 protein-coding gene gene with protein product """brefeldin A-ribosylated substrate""" 602618.0 9479502 Standard NM_001328 XM_005272261 Approved BARS uc003gcv.1 Q13363 OTTHUMG00000089259 ENST00000382952.3: 4.__UNKNOWN__:g.1235191G>T Q4W5N3|Q7Z2Q5 __UNKNOWN__ CCDS43203.1 CTBP1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359459.1 - ENST00000382952.3 De_novo_Start_InFrame SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 ATP6V1G3 127124 broad.mit.edu 37 1 198498307 198498307 + Missense_Mutation SNP T T A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr1:198498307T>A ENST00000367382.1 - 2.0 171 c.87A>T c.(85-87)aaA>aaT p.K29N ATP6V1G3_ENST00000309309.7_Missense_Mutation_p.R45W|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.K29N|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.K35N|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.K35N Q96LB4 VATG3_HUMAN ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 29.0 cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471) ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 7.0 ATCGCTTTCCTTTTCCTGAAA 0.254 0 107.0 101.0 103.0 1 198498307.0 2202.0 4298.0 6500.0 SO:0001583 missense AY039760 CCDS1395.1, CCDS1396.1 1q32.2 2010-04-21 2006-01-13 ENSG00000151418 ENSG00000151418 127124.0 127124.0 """ATPases / V-type""" 18265.0 protein-coding gene gene with protein product """ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3""" 9442887 Standard NM_133326 NM_133262 Approved ATP6G3, Vma10 uc001gup.3 Q96LB4 OTTHUMG00000035661 ENST00000367382.1:c.87A>T 1.__UNKNOWN__:g.198498307T>A ENSP00000356352:p.Lys29Asn Q495K2|Q495K4|Q5T9L6 __UNKNOWN__ CCDS1395.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 18.17|18.17 3.563555|3.563555 0.65651|0.65651 .|. .|. ENSG00000151418|ENSG00000151418 ENST00000367382;ENST00000367381;ENST00000281087;ENST00000489986|ENST00000309309 T;T;T;T|. 0.56941|. 0.43;0.43;0.43;0.43|. 5.18|5.18 2.86|2.86 0.33363|0.33363 .|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.62134|0.62134 0.2403|0.2403 .|. .|. .|. 0.46586|0.46586 D|D 0.999114|0.999114 D;D|D 0.76494|0.61697 0.999;0.999|0.99 D;D|P 0.74023|0.53313 0.982;0.979|0.723 T|T 0.63699|0.63699 -0.6578|-0.6578 9|7 0.87932|0.87932 D|D 0|0 -43.4432|-43.4432 7.083|7.083 0.25241|0.25241 0.0:0.2508:0.0:0.7492|0.0:0.2508:0.0:0.7492 .|. 35;29|45 Q96LB4-4;Q96LB4|Q96LB4-3 .;VATG3_HUMAN|. N|W 29;35;29;35|45 ENSP00000356352:K29N;ENSP00000356351:K35N;ENSP00000281087:K29N;ENSP00000417171:K35N|. ENSP00000281087:K29N|ENSP00000309574:R45W K|R -|- 3|1 2|2 ATP6V1G3|ATP6V1G3 196764930|196764930 0.843000|0.843000 0.29541|0.29541 0.957000|0.957000 0.39632|0.39632 0.967000|0.967000 0.64934|0.64934 0.494000|0.494000 0.22467|0.22467 0.925000|0.925000 0.37094|0.37094 0.528000|0.528000 0.53228|0.53228 AAA|AGG ATP6V1G3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086559.1 - ENST00000367382.1 Missense_Mutation SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 ABCA13 154664 broad.mit.edu 37 7 48314395 48314395 + Missense_Mutation SNP G G T TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr7:48314395G>T ENST00000435803.1 + 17.0 5156 c.5132G>T c.(5131-5133)gGc>gTc p.G1711V NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1711.0 transport (GO:0006810) integral component of membrane (GO:0016021) ATP binding (GO:0005524)|ATPase activity (GO:0016887) 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) 270.0 TTGCTTGTTGGCTTGATGGAA 0.393 0 90.0 87.0 88.0 7 48314395.0 1915.0 4122.0 6037.0 SO:0001583 missense AY204751 CCDS47584.1 7p12.3 2012-03-14 ENSG00000179869 ENSG00000179869 154664.0 154664.0 """ATP binding cassette transporters / subfamily A""" 14638.0 protein-coding gene gene with protein product 607807.0 12697998 Standard NM_152701 NM_152701 Approved FLJ33876, FLJ33951 uc003toq.2 Q86UQ4 OTTHUMG00000155840 ENST00000435803.1:c.5132G>T 7.__UNKNOWN__:g.48314395G>T ENSP00000411096:p.Gly1711Val K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248 __UNKNOWN__ CCDS47584.1 . . . . . . . . . . G 3.994 -0.003906 0.07773 . . ENSG00000179869 ENST00000435803 D 0.86497 -2.13 5.81 1.85 0.25348 . 0.790281 0.10786 N 0.634373 D 0.84741 0.5539 L 0.50333 1.59 0.09310 N 1 P 0.45396 0.857 P 0.44477 0.451 T 0.71613 -0.4540 9 . . . . 10.7611 0.46266 0.3788:0.0:0.6212:0.0 . 1711 Q86UQ4 ABCAD_HUMAN V 1711 ENSP00000411096:G1711V . G + 2 0 ABCA13 48284941 0.100000 0.21855 0.011000 0.14972 0.023000 0.10783 0.241000 0.18065 0.080000 0.16959 -1.151000 0.01829 GGC ABCA13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000341964.2 + ENST00000435803.1 Missense_Mutation SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 ZNF394 84124 broad.mit.edu 37 7 99091213 99091213 + Missense_Mutation SNP C C T TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr7:99091213C>T ENST00000426306.2 - 0.0 1668 ZNF394_ENST00000337673.6_Missense_Mutation_p.R542Q|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron Q53GI3 ZN394_HUMAN zinc finger protein 394 transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16.0 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TCTTTGGTGTCGGATAAGGTG 0.463 Ovarian(24;589 697 9939 12704 40742) 0 162.0 159.0 160.0 7 99091213.0 2203.0 4300.0 6503.0 SO:0001624 3_prime_UTR_variant BC025241 CCDS5666.1 7q22.1 2014-01-28 ENSG00000160908 ENSG00000160908 84124.0 84124.0 """Zinc fingers, C2H2-type"", ""-"", ""-"", ""-""" 18832.0 protein-coding gene gene with protein product Standard NM_032164 NM_032164 Approved ZKSCAN14, FLJ12298, ZSCAN46 uc003uqs.3 Q53GI3 OTTHUMG00000154660 ENST00000426306.2:c.*1009G>A 7.__UNKNOWN__:g.99091213C>T A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51 __UNKNOWN__ . . . . . . . . . . C 12.09 1.832288 0.32421 . . ENSG00000160908 ENST00000337673 T 0.09630 2.96 3.29 2.4 0.29515 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.222920 0.23241 N 0.050348 T 0.03263 0.0095 N 0.05050 -0.12 0.58432 D 0.999997 B 0.28850 0.225 B 0.21917 0.037 T 0.35475 -0.9787 10 0.06891 T 0.86 . 4.213 0.10521 0.2257:0.6527:0.0:0.1216 . 542 Q53GI3 ZN394_HUMAN Q 542 ENSP00000337363:R542Q ENSP00000337363:R542Q R - 2 0 ZNF394 98929149 0.000000 0.05858 1.000000 0.80357 0.999000 0.98932 -0.019000 0.12546 0.964000 0.38108 0.655000 0.94253 CGA ZNF394-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000336499.1 - ENST00000426306.2 3'UTR SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 TERF2 7014 broad.mit.edu 37 16 69404385 69404385 + Missense_Mutation SNP C C T TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr16:69404385C>T ENST00000567296.2 - 5.0 857 c.841G>A c.(841-843)Gtg>Atg p.V281M TERF2_ENST00000254942.3_Splice_Site|TERF2_ENST00000603068.1_Splice_Site|TERF2_ENST00000569611.2_Splice_Site Q15554 TERF2_HUMAN telomeric repeat binding factor 2 281.0 TRFH dimerization. age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162) NS(2)|breast(1)|large_intestine(3)|lung(1) 7.0 Ovarian(137;0.101) CCAAGGCGCACCGTGAGGAGG 0.512 Ovarian(13;63 524 30420 31710 34037) 0 84.0 70.0 75.0 16 69404385.0 2198.0 4300.0 6498.0 SO:0001583 missense CCDS10879.1, CCDS10879.2 16q22.1 2008-02-05 ENSG00000132604 ENSG00000132604 7014.0 7014.0 11729.0 protein-coding gene gene with protein product 602027.0 TRBF2 9326950, 10226653 Standard NM_005652 Approved TRF2 uc002exd.4 Q15554 OTTHUMG00000137566 ENST00000567296.2:c.841G>A 16.__UNKNOWN__:g.69404385C>T ENSP00000454955:p.Val281Met __UNKNOWN__ . . . . . . . . . . C 17.63 3.438291 0.62955 . . ENSG00000132604 ENST00000254942 . . . 5.33 5.33 0.75918 . . . . . . . . . . . 0.25361 N 0.988789 . . . . . . . . . . . . . . 14.553 0.68081 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . TERF2 67961886 1.000000 0.71417 1.000000 0.80357 0.782000 0.44232 4.369000 0.59511 2.488000 0.83962 0.650000 0.86243 . TERF2-002 KNOWN basic protein_coding protein_coding OTTHUMT00000431471.2 - ENST00000567296.2 Missense_Mutation SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 SVOPL 136306 broad.mit.edu 37 7 138313042 138313042 + Missense_Mutation SNP C C A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr7:138313042C>A ENST00000421622.1 - 7.0 778 c.570G>T c.(568-570)ttG>ttT p.L190F SVOPL_ENST00000436657.1_Missense_Mutation_p.L158F|SVOPL_ENST00000419765.3_Missense_Mutation_p.L310F|SVOPL_ENST00000288513.5_Missense_Mutation_p.L158F Q8N434 SVOPL_HUMAN SVOP-like 310.0 integral component of membrane (GO:0016021) transmembrane transporter activity (GO:0022857) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19.0 AACCACAGACCAAGTCCCGCT 0.562 0 93.0 91.0 91.0 7 138313042.0 2203.0 4300.0 6503.0 SO:0001583 missense BC036796 CCDS5848.1, CCDS47721.1 7q34 2011-07-12 2007-04-04 ENSG00000157703 ENSG00000157703 136306.0 136306.0 27034.0 protein-coding gene gene with protein product 611700.0 """SV2 related protein homolog (rat)-like""" Standard NM_174959 NM_001139456 Approved MGC46715 uc011kqh.2 Q8N434 OTTHUMG00000155870 ENST00000421622.1:c.570G>T 7.__UNKNOWN__:g.138313042C>A ENSP00000412830:p.Leu190Phe __UNKNOWN__ . . . . . . . . . . C 14.45 2.537681 0.45176 . . ENSG00000157703 ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765 T;T;T;T 0.73789 -0.01;0.07;-0.01;-0.78 4.32 2.46 0.29980 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.174764 0.39083 N 0.001468 T 0.72095 0.3418 N 0.24115 0.695 0.42095 D 0.991318 D;D 0.89917 0.999;1.0 D;D 0.75020 0.985;0.97 T 0.70777 -0.4780 10 0.51188 T 0.08 -14.8231 5.9222 0.19088 0.1498:0.6812:0.0:0.169 . 310;158 Q8N434;Q8N434-2 SVOPL_HUMAN;. F 158;190;158;310 ENSP00000288513:L158F;ENSP00000412830:L190F;ENSP00000417018:L158F;ENSP00000405482:L310F ENSP00000288513:L158F L - 3 2 SVOPL 137963582 1.000000 0.71417 1.000000 0.80357 0.616000 0.37450 1.100000 0.31025 1.033000 0.39918 0.563000 0.77884 TTG SVOPL-004 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000342091.2 - ENST00000421622.1 Missense_Mutation SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 ACAP3 116983 broad.mit.edu 37 1 1233463 1233463 + Missense_Mutation SNP G G A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr1:1233463G>A ENST00000354700.5 - 13.0 1148 c.946C>T c.(946-948)Cgc>Tgc p.R316C ACAP3_ENST00000379037.2_5'UTR|ACAP3_ENST00000353662.3_Missense_Mutation_p.R274C NM_030649.2 NP_085152.2 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 316.0 PH. {ECO:0000255|PROSITE- ProRule:PRU00145}. regulation of ARF GTPase activity (GO:0032312) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14.0 GAGCACAGGCGGAGGTCATCC 0.682 0 37.0 38.0 37.0 1 1233463.0 2186.0 4292.0 6478.0 SO:0001583 missense AF411981 CCDS19.2 1p36 2013-01-10 2008-09-22 2008-09-22 ENSG00000131584 ENSG00000131584 116983.0 116983.0 """ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing""" 16754.0 protein-coding gene gene with protein product """centaurin, beta 5""" CENTB5 Standard NM_030649 NM_030649 Approved KIAA1716 uc001aeb.2 Q96P50 OTTHUMG00000002235 ENST00000354700.5:c.946C>T 1.__UNKNOWN__:g.1233463G>A ENSP00000346733:p.Arg316Cys B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7 __UNKNOWN__ CCDS19.2 . . . . . . . . . . g 15.23 2.771738 0.49680 . . ENSG00000131584 ENST00000354700;ENST00000353662 T;T 0.76186 -1.0;-1.0 3.35 3.35 0.38373 Pleckstrin homology-type (1);Pleckstrin homology domain (3); 0.067352 0.56097 D 0.000021 D 0.85017 0.5601 M 0.79926 2.475 0.53005 D 0.999965 D;D 0.89917 1.0;1.0 D;D 0.85130 0.997;0.938 D 0.86970 0.2097 10 0.87932 D 0 . 12.2385 0.54528 0.0:0.0:0.8178:0.1822 . 316;274 Q96P50;Q96P50-1 ACAP3_HUMAN;. C 316;274 ENSP00000346733:R316C;ENSP00000321139:R274C ENSP00000321139:R274C R - 1 0 ACAP3 1223326 0.994000 0.37717 0.999000 0.59377 0.863000 0.49368 2.139000 0.42149 2.168000 0.68352 0.450000 0.29827 CGC ACAP3-001 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000006366.2 - ENST00000354700.5 Missense_Mutation SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 SLIT1 6585 broad.mit.edu 37 10 98808821 98808821 + Silent SNP G G A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr10:98808821G>A ENST00000266058.4 - 14.0 1601 c.1356C>T c.(1354-1356)gaC>gaT p.D452D ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.D452D NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 452.0 LRRCT 2. axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028) extracellular space (GO:0005615) calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495) 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) 78.0 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) TGCGCAGGAAGTCTGCCAGCC 0.582 0 74.0 67.0 69.0 10 98808821.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB011537 CCDS7453.1 10q23.3-q24 2008-08-01 2001-11-28 ENSG00000187122 ENSG00000187122 6585.0 6585.0 11085.0 protein-coding gene gene with protein product 603742.0 """slit (Drosophila) homolog 1""" SLIL1 9693030, 9813312 Standard NM_003061 NM_003061 Approved slit1, MEGF4, Slit-1, SLIT3 uc001kmw.2 O75093 OTTHUMG00000018843 ENST00000266058.4:c.1356C>T 10.__UNKNOWN__:g.98808821G>A Q5T0V1|Q8WWZ2|Q9UIL7 __UNKNOWN__ CCDS7453.1 SLIT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049636.1 - ENST00000266058.4 Silent SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 PCDHGA8 0 broad.mit.edu 37 5 140773281 140773281 + Missense_Mutation SNP A A G TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr5:140773281A>G ENST00000398604.2 + 1.0 901 c.901A>G c.(901-903)Ata>Gta p.I301V PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_032088.1 NP_114477.1 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 301.0 Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}. homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51.0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACTGGGGAAATATCAATAGC 0.388 0 87.0 92.0 91.0 5 140773281.0 1818.0 4083.0 5901.0 SO:0001583 missense AF152515 CCDS47291.1, CCDS75338.1 5q31 2010-01-26 ENSG00000253767 ENSG00000253767 9708.0 9708.0 """Cadherins / Protocadherins : Clustered""" 8706.0 other protocadherin 606295.0 10380929 Standard NM_032088 NM_014004 Approved KIAA0327, PCDH-GAMMA-A8 Q9Y5G5 OTTHUMG00000164053 ENST00000398604.2:c.901A>G 5.__UNKNOWN__:g.140773281A>G ENSP00000381605:p.Ile301Val A7MCZ4|O15039 __UNKNOWN__ CCDS47291.1 . . . . . . . . . . . 10.19 1.282012 0.23392 . . ENSG00000253767 ENST00000398604 T 0.64085 -0.08 5.41 2.94 0.34122 Cadherin (4);Cadherin-like (1); 0.643881 0.11092 U 0.600630 T 0.57607 0.2065 L 0.41961 1.31 0.25029 N 0.991288 B;B 0.30361 0.101;0.277 B;B 0.34590 0.186;0.117 T 0.50215 -0.8854 10 0.49607 T 0.09 . 12.1072 0.53820 0.728:0.272:0.0:0.0 . 301;301 Q9Y5G5;Q9Y5G5-2 PCDG8_HUMAN;. V 301 ENSP00000381605:I301V ENSP00000381605:I301V I + 1 0 PCDHGA8 140753465 0.000000 0.05858 0.989000 0.46669 0.963000 0.63663 -0.120000 0.10660 0.334000 0.23590 -0.313000 0.08912 ATA PCDHGA8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000376972.1 + ENST00000398604.2 Missense_Mutation SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 DIP2C 22982 broad.mit.edu 37 10 445145 445145 + Missense_Mutation SNP G G C TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr10:445145G>C ENST00000280886.6 - 10.0 1251 c.1164C>G c.(1162-1164)ttC>ttG p.F388L DIP2C_ENST00000381496.3_Missense_Mutation_p.F281L NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 388.0 nucleus (GO:0005634) catalytic activity (GO:0003824) breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81.0 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CATTGTTGGGGAACACCAGTG 0.617 0 82.0 69.0 74.0 10 445145.0 2203.0 4300.0 6503.0 SO:0001583 missense BC035216 CCDS7054.1 10p15.3 2006-01-13 2006-01-13 2006-01-13 ENSG00000151240 ENSG00000151240 22982.0 22982.0 29150.0 protein-coding gene gene with protein product 611380.0 """KIAA0934""" KIAA0934 Standard NM_014974 NM_014974 Approved uc001ifp.3 Q9Y2E4 OTTHUMG00000017532 ENST00000280886.6:c.1164C>G 10.__UNKNOWN__:g.445145G>C ENSP00000280886:p.Phe388Leu B4DPI5|Q5SS78 __UNKNOWN__ CCDS7054.1 . . . . . . . . . . g 17.16 3.319654 0.60524 . . ENSG00000151240 ENST00000280886;ENST00000381496 T;T 0.34859 1.34;1.34 5.58 1.52 0.23074 AMP-dependent synthetase/ligase (1); 0.051424 0.85682 D 0.000000 T 0.40322 0.1112 M 0.64997 1.995 0.42356 D 0.992393 B;B 0.33549 0.417;0.347 B;B 0.42163 0.292;0.378 T 0.36456 -0.9747 10 0.66056 D 0.02 -31.3934 9.9782 0.41797 0.2761:0.0:0.7239:0.0 . 281;388 E7EPU2;Q9Y2E4 .;DIP2C_HUMAN L 388;281 ENSP00000280886:F388L;ENSP00000370907:F281L ENSP00000280886:F388L F - 3 2 DIP2C 435145 1.000000 0.71417 1.000000 0.80357 0.731000 0.41821 0.642000 0.24735 0.257000 0.21650 0.558000 0.71614 TTC DIP2C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000046389.1 - ENST00000280886.6 Missense_Mutation SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 DCDC1 341019 broad.mit.edu 37 11 31086025 31086025 + Missense_Mutation SNP G G C TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr11:31086025G>C ENST00000597505.1 - 18.0 2581 c.2582C>G c.(2581-2583)tCt>tGt p.S861C DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0.0 intracellular signal transduction (GO:0035556) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31.0 Lung SC(675;0.225) CCTCTGAGCAGAAGCCTTAGG 0.438 0 174.0 167.0 169.0 11 31086025.0 1885.0 4119.0 6004.0 SO:0001583 missense AY247970 CCDS7872.1 11p14.1 2013-05-22 ENSG00000170959 ENSG00000170959 341019.0 341019.0 20625.0 protein-coding gene gene with protein product 608062.0 12820024 Standard NM_181807 NM_181807 Approved uc001msv.3 P59894 OTTHUMG00000150144 ENST00000597505.1:c.2582C>G 11.__UNKNOWN__:g.31086025G>C ENSP00000472625:p.Ser861Cys A6PVL6|B7WNX6|Q6ZU04 __UNKNOWN__ DCDC1-010 PUTATIVE basic protein_coding protein_coding OTTHUMT00000463167.1 - ENST00000597505.1 Missense_Mutation SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 TAS2R8 50836 broad.mit.edu 37 12 10959260 10959260 + Missense_Mutation SNP T T C TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr12:10959260T>C ENST00000240615.2 - 1.0 632 c.320A>G c.(319-321)tAt>tGt p.Y107C NM_023918.1 NP_076407.1 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 107.0 detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527) endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14.0 CTTCAGAAAATAGAAGACATT 0.383 0 81.0 81.0 81.0 12 10959260.0 2203.0 4300.0 6503.0 SO:0001583 missense AF227134 CCDS8632.1 12p13 2012-08-22 ENSG00000121314 ENSG00000121314 50836.0 50836.0 """Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors""" 14915.0 protein-coding gene gene with protein product 604794.0 10761934, 10766242 Standard NM_023918 Approved T2R8, TRB5 uc010shh.2 Q9NYW2 OTTHUMG00000168506 ENST00000240615.2:c.320A>G 12.__UNKNOWN__:g.10959260T>C ENSP00000240615:p.Tyr107Cys Q4KN29|Q645Y2 __UNKNOWN__ CCDS8632.1 . . . . . . . . . . T 10.28 1.307867 0.23821 . . ENSG00000121314 ENST00000240615 T 0.37058 1.22 4.87 3.72 0.42706 GPCR, rhodopsin-like superfamily (1); 0.000000 0.52532 U 0.000073 T 0.56848 0.2013 M 0.88906 2.99 0.24609 N 0.993733 D 0.56287 0.975 P 0.60415 0.874 T 0.53718 -0.8399 10 0.62326 D 0.03 . 6.3173 0.21199 0.0:0.1995:0.0:0.8005 . 107 Q9NYW2 TA2R8_HUMAN C 107 ENSP00000240615:Y107C ENSP00000240615:Y107C Y - 2 0 TAS2R8 10850527 0.941000 0.31946 0.164000 0.22755 0.061000 0.15899 0.959000 0.29240 0.707000 0.31934 0.460000 0.39030 TAT TAS2R8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000399932.1 - ENST00000240615.2 Missense_Mutation SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 AMER1 139285 broad.mit.edu 37 X 63412784 63412784 + Missense_Mutation SNP G G A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chrX:63412784G>A ENST00000330258.3 - 2.0 655 c.383C>T c.(382-384)cCc>cTc p.P128L AMER1_ENST00000403336.1_Missense_Mutation_p.P128L|AMER1_ENST00000374869.3_Missense_Mutation_p.P128L NM_152424.3 NP_689637.3 Q5JTC6 AMER1_HUMAN APC membrane recruitment protein 1 128.0 adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055) cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) p.0?(67) CTGAGAGCTGGGAAATTGGCA 0.552 67 Whole gene deletion(67) kidney(65)|ovary(1)|large_intestine(1) 65.0 56.0 59.0 X 63412784.0 2203.0 4300.0 6503.0 SO:0001583 missense AK097146 CCDS14377.2 Xq11.1 2012-12-03 2012-12-03 2012-12-03 ENSG00000184675 ENSG00000184675 139285.0 139285.0 """-""" 26837.0 protein-coding gene gene with protein product """Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1""" 300647.0 """family with sequence similarity 123B""" FAM123B 21304492, 21498506, 20843316 Standard NM_152424 NM_152424 Approved RP11-403E24.2, FLJ39827, WTX uc004dvo.3 Q5JTC6 OTTHUMG00000021703 ENST00000330258.3:c.383C>T X.__UNKNOWN__:g.63412784G>A ENSP00000329117:p.Pro128Leu A2IB86|Q8N885 __UNKNOWN__ CCDS14377.2 . . . . . . . . . . G 9.096 1.002917 0.19121 . . ENSG00000184675 ENST00000374869;ENST00000330258;ENST00000403336 T;T;T 0.15487 2.42;2.42;2.42 4.59 4.59 0.56863 . 0.370184 0.28796 N 0.014120 T 0.15262 0.0368 L 0.29908 0.895 0.40711 D 0.982572 B 0.26935 0.164 B 0.28553 0.091 T 0.06679 -1.0813 10 0.44086 T 0.13 -4.0461 15.8344 0.78787 0.0:0.0:1.0:0.0 . 128 Q5JTC6 F123B_HUMAN L 128 ENSP00000364003:P128L;ENSP00000329117:P128L;ENSP00000384722:P128L ENSP00000329117:P128L P - 2 0 FAM123B 63329509 1.000000 0.71417 0.586000 0.28679 0.720000 0.41350 3.134000 0.50538 2.527000 0.85204 0.600000 0.82982 CCC AMER1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316584.1 - ENST00000330258.3 Missense_Mutation SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 COL12A1 1303 broad.mit.edu 37 6 75811733 75811733 + Silent SNP T T C TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr6:75811733T>C ENST00000322507.8 - 57.0 8760 c.8451A>G c.(8449-8451)ccA>ccG p.P2817P COL12A1_ENST00000416123.2_Silent_p.P2741P|COL12A1_ENST00000345356.6_Silent_p.P1653P|COL12A1_ENST00000483888.2_Silent_p.P2817P NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2817.0 Collagen-like 2.|Triple-helical region (COL2) with 1 imperfection. cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501) collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982) extracellular matrix structural constituent conferring tensile strength (GO:0030020) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169.0 CTGGAAGTCCTGGCTCTCCAG 0.458 0 217.0 218.0 218.0 6 75811733.0 1959.0 4144.0 6103.0 SO:0001819 synonymous_variant U73779 CCDS43481.1, CCDS43482.1 6q12-q13 2013-02-11 2003-07-24 ENSG00000111799 ENSG00000111799 1303.0 1303.0 """Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing""" 2188.0 protein-coding gene gene with protein product """collagen type XII proteoglycan""" 120320.0 """collagen, type XII, alpha 1-like""" COL12A1L 9143499 Standard NM_004370 XM_006715334 Approved uc003phs.3 Q99715 OTTHUMG00000015051 ENST00000322507.8:c.8451A>G 6.__UNKNOWN__:g.75811733T>C O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716 __UNKNOWN__ CCDS43482.1 COL12A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041249.3 - ENST00000322507.8 Silent SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 DCAF17 80067 broad.mit.edu 37 2 172306405 172306405 + Missense_Mutation SNP A A T TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr2:172306405A>T ENST00000375255.3 + 5.0 802 c.475A>T c.(475-477)Act>Tct p.T159S DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.T159S NM_025000.3 NP_079276.2 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 159.0 protein ubiquitination (GO:0016567) Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1) 17.0 GAGCTGGGACACTCCTCAAGA 0.338 0 47.0 48.0 48.0 2 172306405.0 1847.0 4101.0 5948.0 SO:0001583 missense AK023158 CCDS2243.2, CCDS54419.1 2q31.1 2014-01-28 2009-07-17 2009-07-17 ENSG00000115827 ENSG00000115827 80067.0 80067.0 """DDB1 and CUL4 associated factors""" 25784.0 protein-coding gene gene with protein product """Woodhouse-Sakati syndrome""" 612515.0 """chromosome 2 open reading frame 37""" C2orf37 Standard NM_025000 NM_001164821 Approved FLJ13096 uc002ugx.3 Q5H9S7 OTTHUMG00000132259 ENST00000375255.3:c.475A>T 2.__UNKNOWN__:g.172306405A>T ENSP00000364404:p.Thr159Ser B2RTW5|Q53TN3|Q9H908 __UNKNOWN__ CCDS2243.2 . . . . . . . . . . A 16.13 3.034928 0.54896 . . ENSG00000115827 ENST00000375255;ENST00000539783 T;T 0.43294 0.95;0.96 5.43 5.43 0.79202 . 0.123535 0.56097 D 0.000029 T 0.45856 0.1363 L 0.35414 1.06 0.30543 N 0.766237 D;D 0.71674 0.998;0.982 D;P 0.63033 0.91;0.831 T 0.41556 -0.9502 10 0.20046 T 0.44 -14.5626 9.958 0.41680 0.923:0.0:0.077:0.0 . 159;159 F5H7W1;Q5H9S7 .;DCA17_HUMAN S 159 ENSP00000364404:T159S;ENSP00000442238:T159S ENSP00000364404:T159S T + 1 0 DCAF17 172014651 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 3.607000 0.54102 2.199000 0.70637 0.529000 0.55759 ACT DCAF17-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000255342.2 + ENST00000375255.3 Missense_Mutation SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 KRT35 3886 broad.mit.edu 37 17 39637289 39637289 + Missense_Mutation SNP C C A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr17:39637289C>A ENST00000246639.2 - 0.0 103 KRT35_ENST00000393989.1_Missense_Mutation_p.A21S Q92764 KRT35_HUMAN keratin 35 anatomical structure morphogenesis (GO:0009653) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882) structural molecule activity (GO:0005198) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29.0 Breast(137;0.000286) CCCCCACTGGCCCCTCCTGGG 0.577 0 46.0 53.0 51.0 17 39637289.0 1889.0 4124.0 6013.0 SO:0001623 5_prime_UTR_variant X90762 CCDS11394.2 17q21.2 2013-01-16 2006-07-17 2006-07-17 ENSG00000197079 ENSG00000197079 3886.0 3886.0 """-"", ""Intermediate filaments type I, keratins (acidic)""" 6453.0 protein-coding gene gene with protein product """hard keratin type I 5""" 602764.0 """keratin, hair, acidic, 5""" KRTHA5 8823373, 16831889 Standard NM_002280 NM_002280 Approved Ha-5 uc002hws.3 Q92764 OTTHUMG00000133425 ENST00000246639.2:c.-30G>T 17.__UNKNOWN__:g.39637289C>A O76012|Q92651 __UNKNOWN__ . . . . . . . . . . C 3.329 -0.137146 0.06711 . . ENSG00000197079 ENST00000393989 T 0.80653 -1.4 5.04 0.814 0.18756 . . . . . T 0.65533 0.2700 L 0.34521 1.04 0.09310 N 1 B 0.17852 0.024 B 0.13407 0.009 T 0.46247 -0.9205 9 0.16896 T 0.51 . 5.3146 0.15849 0.0:0.4887:0.2743:0.237 . 21 Q92764 KRT35_HUMAN S 21 ENSP00000377558:A21S ENSP00000377558:A21S A - 1 0 KRT35 36890815 0.001000 0.12720 0.003000 0.11579 0.698000 0.40448 -0.303000 0.08210 0.042000 0.15717 0.563000 0.77884 GCC KRT35-001 KNOWN basic protein_coding protein_coding OTTHUMT00000257288.2 - ENST00000246639.2 5'UTR SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 KIF2B 84643 broad.mit.edu 37 17 51901892 51901892 + Missense_Mutation SNP A A C TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr17:51901892A>C ENST00000268919.4 + 1.0 1654 c.1498A>C c.(1498-1500)Aca>Cca p.T500P NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 500.0 Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}. T -> A (in Ref. 1; AAK20830). {ECO:0000305}. antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983) cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) 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) 104.0 CAGCAAACTCACACTGGTGCT 0.502 0 51.0 49.0 50.0 17 51901892.0 2203.0 4300.0 6503.0 SO:0001583 missense AF333335 CCDS32685.1 17q22 2014-08-12 ENSG00000141200 ENSG00000141200 84643.0 84643.0 """Kinesins""" 29443.0 protein-coding gene gene with protein product 615142.0 11416179 Standard NM_032559 NM_032559 Approved uc002iua.2 Q8N4N8 OTTHUMG00000177756 ENST00000268919.4:c.1498A>C 17.__UNKNOWN__:g.51901892A>C ENSP00000268919:p.Thr500Pro Q96MA2|Q9BXG6 __UNKNOWN__ CCDS32685.1 . . . . . . . . . . A 21.3 4.126060 0.77436 . . ENSG00000141200 ENST00000268919;ENST00000416491 T 0.50548 0.74 5.73 5.73 0.89815 Kinesin, motor domain (4); 0.000000 0.46145 D 0.000305 D 0.83547 0.5278 H 0.99922 4.955 0.52501 D 0.999958 D 0.89917 1.0 D 0.97110 1.0 D 0.90748 0.4655 10 0.87932 D 0 . 13.6903 0.62542 1.0:0.0:0.0:0.0 . 500 Q8N4N8 KIF2B_HUMAN P 500;388 ENSP00000268919:T500P ENSP00000268919:T500P T + 1 0 KIF2B 49256891 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 9.257000 0.95545 2.302000 0.77476 0.533000 0.62120 ACA KIF2B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000438854.1 + ENST00000268919.4 Missense_Mutation SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 WDR11 55717 broad.mit.edu 37 10 122619631 122619631 + Missense_Mutation SNP G G C TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr10:122619631G>C ENST00000263461.6 + 4.0 609 c.363G>C c.(361-363)tgG>tgC p.W121C NM_018117.11 NP_060587.8 Q8WWQ0 PHIP_HUMAN WD repeat domain 11 275.0 cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38.0 ATGTTCAGTGGTTGTGGAATC 0.428 0 169.0 144.0 152.0 10 122619631.0 2203.0 4300.0 6503.0 SO:0001583 missense AF320223 CCDS7619.1 10q26 2013-01-21 2010-01-06 2010-01-06 ENSG00000120008 ENSG00000120008 55717.0 55717.0 """WD repeat domain containing""" 13831.0 protein-coding gene gene with protein product 606417.0 """bromodomain and WD repeat domain containing 2""" BRWD2 10718198, 11536051 Standard NM_018117 Approved KIAA1351, FLJ10506, WDR15, HH14, DR11 uc021pzt.1 Q9BZH6 OTTHUMG00000019171 ENST00000263461.6:c.363G>C 10.__UNKNOWN__:g.122619631G>C ENSP00000263461:p.Trp121Cys A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261 __UNKNOWN__ CCDS7619.1 . . . . . . . . . . G 15.40 2.820999 0.50633 . . ENSG00000120008 ENST00000263461 T 0.34859 1.34 5.74 4.85 0.62838 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1); 0.000000 0.85682 D 0.000000 T 0.59252 0.2180 M 0.71581 2.175 0.80722 D 1 D 0.76494 0.999 D 0.80764 0.994 T 0.64356 -0.6427 10 0.87932 D 0 -5.8406 14.7366 0.69419 0.0693:0.0:0.9307:0.0 . 121 Q9BZH6 WDR11_HUMAN C 121 ENSP00000263461:W121C ENSP00000263461:W121C W + 3 0 WDR11 122609621 1.000000 0.71417 0.990000 0.47175 0.345000 0.29048 9.686000 0.98664 1.456000 0.47831 -0.229000 0.12294 TGG WDR11-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050707.2 + ENST00000263461.6 Missense_Mutation SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 CLEC4M 10332 broad.mit.edu 37 19 7831056 7831056 + Silent SNP A A G TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr19:7831056A>G ENST00000327325.5 + 4.0 865 c.747A>G c.(745-747)caA>caG p.Q249Q CLEC4M_ENST00000334806.5_Silent_p.Q198Q|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000394122.2_Silent_p.Q237Q|CLEC4M_ENST00000248228.4_Silent_p.Q227Q|CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000357361.2_Silent_p.Q249Q|CLEC4M_ENST00000596363.1_Silent_p.Q221Q NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 249.0 7 X approximate tandem repeats. antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26.0 AGCAGCAGCAAATCTATCAAG 0.512 0 146.0 149.0 148.0 19 7831056.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB015629 CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1 19p13 2008-02-05 2005-02-04 2005-02-11 ENSG00000104938 10332.0 10332.0 """C-type lectin domain containing"", ""CD molecules""" 13523.0 protein-coding gene gene with protein product 605872.0 """CD299 antigen""" CD209L, CD299 10072769 Standard NM_014257 NM_001144904 Approved HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2 uc010dvt.3 Q9H2X3 ENST00000327325.5:c.747A>G 19.__UNKNOWN__:g.7831056A>G A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8 __UNKNOWN__ CCDS12187.1 CLEC4M-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000461161.1 + ENST00000327325.5 Silent SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 UNC13D 201294 broad.mit.edu 37 17 73825012 73825012 + Missense_Mutation SNP C C A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr17:73825012C>A ENST00000207549.4 - 31.0 3386 c.3007G>T c.(3007-3009)Gtg>Ttg p.V1003L UNC13D_ENST00000412096.2_Missense_Mutation_p.V1003L NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 1003.0 C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}. defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304) endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29.0 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) TAGTCCAGCACGGTGAGCAGG 0.706 Familial Hemophagocytic Lymphohistiocytosis 0 26.0 28.0 27.0 17 73825012.0 2199.0 4297.0 6496.0 SO:0001583 missense Familial Cancer Database FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR AK024474 CCDS11730.1 17q25.3 2014-09-17 ENSG00000092929 201294.0 201294.0 23147.0 protein-coding gene gene with protein product 608897.0 Standard XM_113950 NM_199242 Approved Munc13-4 uc002jpp.3 Q70J99 ENST00000207549.4:c.3007G>T 17.__UNKNOWN__:g.73825012C>A ENSP00000207549:p.Val1003Leu B4DWG9|Q9H7K5 __UNKNOWN__ CCDS11730.1 . . . . . . . . . . C 36 5.893041 0.97074 . . ENSG00000092929 ENST00000207549;ENST00000412096 D;D 0.86366 -2.11;-2.11 5.65 5.65 0.86999 C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1); 0.000000 0.64402 D 0.000001 D 0.92811 0.7714 M 0.73217 2.22 0.80722 D 1 D 0.64830 0.994 D 0.64237 0.923 D 0.92372 0.5906 10 0.56958 D 0.05 -12.6532 20.0887 0.97806 0.0:1.0:0.0:0.0 . 1003 Q70J99 UN13D_HUMAN L 1003 ENSP00000207549:V1003L;ENSP00000388093:V1003L ENSP00000207549:V1003L V - 1 0 UNC13D 71336607 1.000000 0.71417 0.975000 0.42487 0.911000 0.54048 7.389000 0.79806 2.825000 0.97269 0.655000 0.94253 GTG UNC13D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000448847.2 - ENST00000207549.4 Missense_Mutation SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 CCDC64 92558 broad.mit.edu 37 12 120510313 120510313 + Splice_Site SNP A A G TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr12:120510313A>G ENST00000397558.2 + 6.0 1089 c.e6-1 CCDC64_ENST00000257583.4_Splice_Site|CCDC64_ENST00000446727.2_Intron NM_207311.2 NP_997194.2 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175) centrosome (GO:0005813)|cytoplasm (GO:0005737) dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22.0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCTGTGGAACAGCTGAGACTG 0.502 0 69.0 68.0 68.0 12 120510313.0 2000.0 4172.0 6172.0 SO:0001630 splice_region_variant U88834, AK129960 CCDS41845.1 12q24.23 2006-01-24 ENSG00000135127 92558.0 92558.0 28095.0 protein-coding gene gene with protein product Standard NM_207311 NM_207311 Approved FLJ26450 uc001txl.1 Q6ZP65 OTTHUMG00000169311 ENST00000397558.2:c.1090-1A>G 12.__UNKNOWN__:g.120510313A>G A8MUC8|B4DWL0|B5MDJ0|O95000 __UNKNOWN__ CCDS41845.1 . . . . . . . . . . A 21.5 4.159803 0.78226 . . ENSG00000135127 ENST00000357093;ENST00000397558;ENST00000548673;ENST00000257583 . . . 5.52 5.52 0.82312 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 15.6514 0.77099 1.0:0.0:0.0:0.0 . . . . . -1 . . . + . . CCDC64 118994696 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 8.540000 0.90641 2.115000 0.64714 0.533000 0.62120 . CCDC64-001 NOVEL not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000403390.2 Intron + ENST00000397558.2 Splice_Site SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 USP36 57602 broad.mit.edu 37 17 76831368 76831368 + Missense_Mutation SNP G G A rs151065333 byFrequency TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr17:76831368G>A ENST00000542802.3 - 4.0 912 c.469C>T c.(469-471)Cgc>Tgc p.R157C USP36_ENST00000590546.2_Missense_Mutation_p.R157C|USP36_ENST00000312010.6_Missense_Mutation_p.R157C|USP36_ENST00000589424.1_Missense_Mutation_p.R157C Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 157.0 USP. protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843) 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) 34.0 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) TCACAGCTGCGAGCATGCTCC 0.552 G 0.0 0.0 2184.0 1.0 , , 0.0003 0.0 0.05 EXOME 0.0006 SNP 0 G CYS/ARG 16,4390 23.3+/-48.9 0,16,2187 141.0 93.0 109.0 469 2.1 0.0 17 dbSNP_134 109.0 1,8599 1.2+/-3.3 0,1,4299 yes missense USP36 NM_025090.3 180 0,17,6486 AA,AG,GG 0.0116,0.3631,0.1307 probably-damaging 157/1124 76831368.0 17,12989 2203.0 4300.0 6503.0 SO:0001583 missense AB040886 CCDS32755.1 17q25.3 2008-02-05 2005-08-08 ENSG00000055483 57602.0 57602.0 """Ubiquitin-specific peptidases""" 20062.0 protein-coding gene gene with protein product 612543.0 """ubiquitin specific protease 36""" 12838346 Standard NM_025090 NM_025090 Approved KIAA1453, FLJ12851 uc002jvz.1 Q9P275 ENST00000542802.3:c.469C>T 17.__UNKNOWN__:g.76831368G>A ENSP00000441214:p.Arg157Cys Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8 __UNKNOWN__ CCDS32755.1 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 G 21.9 4.214665 0.79352 0.003631 1.16E-4 ENSG00000055483 ENST00000312010;ENST00000542802;ENST00000432878 T;T 0.32753 1.44;1.44 5.31 2.1 0.27182 . 0.222920 0.46442 D 0.000291 T 0.45438 0.1342 L 0.61218 1.895 0.80722 D 1 D;D 0.89917 0.999;1.0 D;D 0.64877 0.93;0.921 T 0.32161 -0.9917 10 0.87932 D 0 -12.0043 8.2951 0.31980 0.0749:0.0:0.6484:0.2767 . 157;157 Q8IXW9;Q9P275-2 .;. C 157 ENSP00000310590:R157C;ENSP00000441214:R157C ENSP00000310590:R157C R - 1 0 USP36 74342963 1.000000 0.71417 0.001000 0.08648 0.479000 0.33129 4.360000 0.59455 0.190000 0.20209 -0.291000 0.09656 CGC USP36-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000437472.3 - ENST00000542802.3 Missense_Mutation SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 CSDE1 7812 broad.mit.edu 37 1 115268982 115268985 + Frame_Shift_Del DEL TGTT TGTT - TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr1:115268982_115268985delTGTT ENST00000530886.1 - 12.0 1684_1687 c.1097_1100delAACA c.(1096-1101)aaacagfs p.KQ366fs CSDE1_ENST00000369530.1_Frame_Shift_Del_p.KQ511fs|CSDE1_ENST00000358528.4_Frame_Shift_Del_p.KQ496fs|CSDE1_ENST00000261443.5_Frame_Shift_Del_p.KQ465fs|CSDE1_ENST00000534699.1_Frame_Shift_Del_p.KQ496fs|CSDE1_ENST00000438362.2_Frame_Shift_Del_p.KQ542fs|CSDE1_ENST00000339438.6_Frame_Shift_Del_p.KQ465fs O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding 496.0 CSD 5. IKCVDRDVRMFFHFSEILDGNQL -> HPSVWIRECSVCSF PLPVKFWMGTSS (in Ref. 2; AAD27787). {ECO:0000305}. male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355) CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51.0 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCAGGCCTCTGTTTGTCACTAAT 0.397 0 SO:0001589 frameshift_variant CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1 1p13.2 2011-11-02 ENSG00000009307 ENSG00000009307 7812.0 7812.0 29905.0 protein-coding gene gene with protein product """upstream of NRAS""" 191510.0 2204029, 10048485 Standard NM_007158 NM_007158 Approved D1S155E, UNR uc001efi.3 O75534 OTTHUMG00000012060 ENST00000530886.1:c.1097_1100delAACA 1.__UNKNOWN__:g.115268982_115268985delTGTT ENSP00000431297:p.Lys366fs A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4 __UNKNOWN__ CSDE1-007 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000392607.1 - ENST00000530886.1 Frame_Shift_Del DEL PCPG-TCGA-RW-A681-Normal-SM-5EQG8 TAOK2 9344 broad.mit.edu 37 16 29989145 29989146 + Frame_Shift_Del DEL CT CT - TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr16:29989145_29989146delCT ENST00000279394.3 + 2.0 455_456 c.52_53delCT c.(52-54)ctcfs p.L18fs TAOK2_ENST00000308893.4_Frame_Shift_Del_p.L18fs|TAOK2_ENST00000543033.1_Frame_Shift_Del_p.L18fs NM_004783.3 NP_004774.1 Q9UL54 TAOK2_HUMAN TAO kinase 2 18.0 actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403) cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235) ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674) breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22.0 TGTGGCTGAGCTCTTCTTCAAG 0.609 0 SO:0001589 frameshift_variant AB020688 CCDS10662.1, CCDS10663.1, CCDS58448.1 16p11.2 2008-02-05 ENSG00000149930 ENSG00000149930 9344.0 9344.0 16835.0 protein-coding gene gene with protein product 613199.0 10048485, 9786855 Standard NM_016151 NM_016151 Approved TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17 uc002dva.2 Q9UL54 OTTHUMG00000132111 ENST00000279394.3:c.52_53delCT 16.__UNKNOWN__:g.29989147_29989148delCT ENSP00000279394:p.Leu18fs A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2 __UNKNOWN__ CCDS10662.1 TAOK2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255151.1 + ENST00000279394.3 Frame_Shift_Del DEL PCPG-TCGA-RW-A681-Normal-SM-5EQG8 Unknown 642546 bcgsc.ca 37 X 79828202 79828202 + RNA SNP G G T TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chrX:79828202G>T FAM46D (127392 upstream) : BRWD3 (98150 downstream) CCTTCAGCAGGGTCACCACGT 0.547 0 SO:0001628 intergenic_variant X.__UNKNOWN__:g.79828202G>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 LYRM2 22881 ucsc.edu 37 6 90340237 90340237 + Silent SNP C C A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr6:90340237C>A ENST00000520441.1 - 2.0 221 ANKRD6_ENST00000339746.4_Silent_p.L566L|ANKRD6_ENST00000520793.1_Silent_p.L502L|ANKRD6_ENST00000522441.1_Silent_p.L566L|ANKRD6_ENST00000447838.2_Silent_p.L561L|ANKRD6_ENST00000369408.5_Silent_p.L531L Q9NU23 LYRM2_HUMAN LYR motif containing 2 mitochondrion (GO:0005739) kidney(1)|large_intestine(1)|lung(1) 3.0 all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0131) AGAAGGCCCTCAACTCCACTG 0.567 0 42.0 43.0 43.0 6 90340237.0 1962.0 4142.0 6104.0 SO:0001627 intron_variant BC009782 CCDS5023.1 6q15 2006-09-19 ENSG00000083099 ENSG00000083099 57226.0 57226.0 """LYR motif containing""" 25229.0 protein-coding gene gene with protein product 12477932 Standard NM_020466 NM_020466 Approved DJ122O8.2 uc003pnm.3 Q9NU23 OTTHUMG00000015203 ENST00000520441.1:c.203+7206G>T 6.__UNKNOWN__:g.90340237C>A B2R4U2|E1P517 __UNKNOWN__ . . . . . . . . . . C 0.013 -1.638187 0.00799 . . ENSG00000135299 ENST00000492158 . . . 4.96 0.916 0.19373 . . . . . T 0.08537 0.0212 . . . 0.09310 N 1 . . . . . . T 0.33033 -0.9884 4 . . . 0.7518 2.8296 0.05496 0.2701:0.226:0.3963:0.1077 . . . . K 140 . . Q + 1 0 ANKRD6 90396958 0.000000 0.05858 0.000000 0.03702 0.016000 0.09150 0.049000 0.14099 0.296000 0.22592 0.563000 0.77884 CAA LYRM2-007 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000375696.1 - ENST00000520441.1 Intron SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 MAN1A2 10905 ucsc.edu 37 1 117944806 117944806 + Splice_Site SNP A A G TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr1:117944806A>G ENST00000356554.3 + 2.0 1037 c.e2-1 MAN1A2_ENST00000482811.1_Intron NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730) calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27.0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) CTTTTCTCACAGGGAAGAGGA 0.358 Ovarian(33;199 881 8228 13687 31538) 0 55.0 58.0 57.0 1 117944806.0 2197.0 4298.0 6495.0 SO:0001630 splice_region_variant AF027156 CCDS895.1 1p13 2008-02-05 ENSG00000198162 ENSG00000198162 10905.0 10905.0 6822.0 protein-coding gene gene with protein product 604345 9592125 Standard NM_006699 NM_006699 Approved MAN1B uc001ehd.1 O60476 OTTHUMG00000012149 ENST00000356554.3:c.303-1A>G 1.__UNKNOWN__:g.117944806A>G Q9H510 __UNKNOWN__ CCDS895.1 . . . . . . . . . . A 20.5 3.997044 0.74818 . . ENSG00000198162 ENST00000356554 . . . 5.66 5.66 0.87406 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 13.8277 0.63361 1.0:0.0:0.0:0.0 . . . . . -1 . . . + . . MAN1A2 117746329 1.000000 0.71417 0.921000 0.36526 0.904000 0.53231 8.807000 0.91935 2.151000 0.67156 0.477000 0.44152 . MAN1A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033593.1 Intron + ENST00000356554.3 Splice_Site SNP PCPG-TCGA-RW-A681-Normal-SM-5EQG8 EMILIN3 90187 broad.mit.edu 37 20 39990877 39990877 + Silent SNP C C T TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr20:39990877C>T ENST00000332312.3 - 4.0 1524 c.1332G>A c.(1330-1332)ggG>ggA p.G444G NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 444.0 cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578) biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30.0 Myeloproliferative disorder(115;0.00425) CACCCTCTGTCCCATTGAGCG 0.667 0 93.0 93.0 93.0 20 39990877.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AL031667 CCDS13316.1 20q12 2005-11-06 2004-03-02 2004-03-02 ENSG00000183798 ENSG00000183798 90187.0 90187.0 """EMI domain containing""" 16123.0 protein-coding gene gene with protein product """chromosome 20 open reading frame 130""" 608929.0 """elastin microfibril interfacer 5""" C20orf130, EMILIN5 12221002 Standard XM_029741 NM_052846 Approved dJ620E11.4 uc002xjy.1 Q9NT22 OTTHUMG00000046304 ENST00000332312.3:c.1332G>A 20.__UNKNOWN__:g.39990877C>T Q495S5|Q495S6|Q495S7|Q76KT4 __UNKNOWN__ CCDS13316.1 EMILIN3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000106876.2 - ENST00000332312.3 Silent SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC FRMD4A 55691 broad.mit.edu 37 10 13712496 13712496 + Silent SNP G G A TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr10:13712496G>A ENST00000357447.2 - 17.0 1652 c.1284C>T c.(1282-1284)ccC>ccT p.P428P FRMD4A_ENST00000358621.4_Silent_p.P413P|FRMD4A_ENST00000378503.1_Silent_p.P428P NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 428.0 establishment of epithelial cell polarity (GO:0090162) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923) breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41.0 CTGGATCCAGGGGATATTCTA 0.517 0 143.0 138.0 140.0 10 13712496.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB037715 CCDS7101.1 10p14 2004-07-15 2004-07-15 2004-07-15 ENSG00000151474 ENSG00000151474 55691.0 55691.0 25491.0 protein-coding gene gene with protein product """FERM domain containing 4""" FRMD4 10718198 Standard NM_018027 NM_018027 Approved FLJ10210, KIAA1294, bA295P9.4 uc001ims.3 Q9P2Q2 OTTHUMG00000017708 ENST00000357447.2:c.1284C>T 10.__UNKNOWN__:g.13712496G>A A7E2Y3|Q5T377 __UNKNOWN__ CCDS7101.1 FRMD4A-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000046889.1 - ENST00000357447.2 Silent SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC XDH 7498 broad.mit.edu 37 2 31573040 31573040 + Missense_Mutation SNP T T C TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr2:31573040T>C ENST00000379416.3 - 25.0 2729 c.2681A>G c.(2680-2682)aAc>aGc p.N894S NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 894.0 activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115) cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777) 2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855) 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) 74.0 Acute lymphoblastic leukemia(172;0.155) Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831) GCCCCGGATGTTGGGGATTTT 0.537 Colon(66;682 1445 30109 40147) 0 87.0 95.0 92.0 2 31573040.0 2203.0 4300.0 6503.0 SO:0001583 missense D11456 CCDS1775.1 2p23.1 2009-07-10 2003-03-20 ENSG00000158125 ENSG00000158125 7498.0 7498.0 1.17.1.4 12805.0 protein-coding gene gene with protein product 607633.0 """xanthene dehydrogenase""" 8224915 Standard NM_000379 NM_000379 Approved XOR, XO uc002rnv.1 P47989 OTTHUMG00000099385 ENST00000379416.3:c.2681A>G 2.__UNKNOWN__:g.31573040T>C ENSP00000368727:p.Asn894Ser Q16681|Q16712|Q4PJ16 __UNKNOWN__ CCDS1775.1 . . . . . . . . . . T 16.63 3.177855 0.57692 . . ENSG00000158125 ENST00000379416 T 0.51574 0.7 5.85 5.85 0.93711 Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3); 0.000000 0.85682 D 0.000000 T 0.68026 0.2956 M 0.79258 2.445 0.80722 D 1 D 0.60160 0.987 D 0.63033 0.91 T 0.72020 -0.4416 10 0.66056 D 0.02 . 15.8979 0.79350 0.0:0.0:0.0:1.0 . 894 P47989 XDH_HUMAN S 894 ENSP00000368727:N894S ENSP00000368727:N894S N - 2 0 XDH 31426544 1.000000 0.71417 0.995000 0.50966 0.010000 0.07245 6.254000 0.72460 2.230000 0.72887 0.528000 0.53228 AAC XDH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000216840.1 - ENST00000379416.3 Missense_Mutation SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC STOX1 219736 broad.mit.edu 37 10 70645882 70645882 + Missense_Mutation SNP G G A TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr10:70645882G>A ENST00000298596.6 + 3.0 2413 c.2330G>A c.(2329-2331)aGa>aAa p.R777K STOX1_ENST00000399169.4_Missense_Mutation_p.R777K|STOX1_ENST00000421961.2_Missense_Mutation_p.R667K|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 777.0 cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677) breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28.0 GTGATTGAGAGATCTCTGACC 0.468 0 82.0 80.0 81.0 10 70645882.0 1907.0 4127.0 6034.0 SO:0001583 missense AK057891 CCDS41535.1, CCDS44416.1, CCDS44417.1 10q22.1 2005-11-29 2005-04-04 2005-04-04 ENSG00000165730 ENSG00000165730 219736.0 219736.0 23508.0 protein-coding gene gene with protein product 609397.0 """chromosome 10 open reading frame 24""" C10orf24 Standard NM_152709 NM_152709 Approved FLJ25162 uc001joq.3 Q6ZVD7 OTTHUMG00000018367 ENST00000298596.6:c.2330G>A 10.__UNKNOWN__:g.70645882G>A ENSP00000298596:p.Arg777Lys A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0 __UNKNOWN__ CCDS41535.1 . . . . . . . . . . G 6.698 0.497460 0.12762 . . ENSG00000165730 ENST00000399169;ENST00000298596;ENST00000421961 T;T;T 0.64618 -0.11;-0.11;-0.11 5.87 2.82 0.32997 . 0.698597 0.15066 N 0.282510 T 0.43500 0.1250 L 0.50333 1.59 0.09310 N 1 B 0.18013 0.025 B 0.12837 0.008 T 0.36065 -0.9763 10 0.02654 T 1 . 1.4799 0.02434 0.274:0.2182:0.3857:0.1221 . 777 Q6ZVD7 STOX1_HUMAN K 777;777;667 ENSP00000382121:R777K;ENSP00000298596:R777K;ENSP00000394509:R667K ENSP00000298596:R777K R + 2 0 STOX1 70315888 0.000000 0.05858 0.001000 0.08648 0.120000 0.20174 -0.204000 0.09425 0.921000 0.36994 -0.140000 0.14226 AGA STOX1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276849.3 + ENST00000298596.6 Missense_Mutation SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC SCN10A 6336 broad.mit.edu 37 3 38781061 38781061 + Missense_Mutation SNP A A G TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr3:38781061A>G ENST00000449082.2 - 14.0 2224 c.2225T>C c.(2224-2226)cTa>cCa p.L742P NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 742.0 AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518) voltage-gated sodium channel activity (GO:0005248) 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) 150.0 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313) GCCCAGCTCTAGCAGACTCAC 0.478 0 69.0 63.0 65.0 3 38781061.0 2203.0 4300.0 6503.0 SO:0001583 missense AF117907 CCDS33736.1 3p22.2 2012-02-26 2007-01-23 ENSG00000185313 ENSG00000185313 6336.0 6336.0 """Sodium channels"", ""Voltage-gated ion channels / Sodium channels""" 10582.0 protein-coding gene gene with protein product 604427.0 """sodium channel, voltage-gated, type X, alpha polypeptide""" 9839820, 10198179, 16382098 Standard NM_006514 NM_006514 Approved Nav1.8, hPN3, SNS, PN3 uc003ciq.3 Q9Y5Y9 OTTHUMG00000048245 ENST00000449082.2:c.2225T>C 3.__UNKNOWN__:g.38781061A>G ENSP00000390600:p.Leu742Pro A6NDQ1 __UNKNOWN__ CCDS33736.1 . . . . . . . . . . A 17.40 3.379384 0.61845 . . ENSG00000185313 ENST00000449082 D 0.98849 -5.18 4.19 4.19 0.49359 Ion transport (1); 0.346611 0.30752 N 0.008953 D 0.98698 0.9563 M 0.83118 2.625 0.80722 D 1 P 0.49961 0.93 P 0.54629 0.757 D 0.99308 1.0903 10 0.87932 D 0 . 13.4132 0.60954 1.0:0.0:0.0:0.0 . 742 Q9Y5Y9 SCNAA_HUMAN P 742 ENSP00000390600:L742P ENSP00000390600:L742P L - 2 0 SCN10A 38756065 0.935000 0.31712 0.977000 0.42913 0.972000 0.66771 7.239000 0.78182 1.765000 0.52091 0.533000 0.62120 CTA SCN10A-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000109745.3 - ENST00000449082.2 Missense_Mutation SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC TLE1 7088 broad.mit.edu 37 9 84228341 84228341 + Silent SNP A A G TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr9:84228341A>G ENST00000376499.3 - 12.0 2078 c.1014T>C c.(1012-1014)cgT>cgC p.R338R TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376472.1_Silent_p.R13R|TLE1_ENST00000376484.1_Silent_p.R13R NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 338.0 Pro/Ser-rich. multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29.0 CGAGACCTGGACGGAGGCCTG 0.592 NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870) 0 92.0 91.0 91.0 9 84228341.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS6661.1 9q21.32 2013-01-10 2001-11-28 ENSG00000196781 ENSG00000196781 7088.0 7088.0 """WD repeat domain containing""" 11837.0 protein-coding gene gene with protein product """enhancer of split groucho 1""" 600189.0 """transducin-like enhancer of split 1, homolog of Drosophila E(sp1)""" 8365415, 8808280 Standard NM_005077 NM_005077 Approved ESG1, GRG1, ESG uc004aly.3 Q04724 OTTHUMG00000021008 ENST00000376499.3:c.1014T>C 9.__UNKNOWN__:g.84228341A>G A8K495|Q5T3G4|Q969V9 __UNKNOWN__ CCDS6661.1 TLE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055407.1 - ENST00000376499.3 Silent SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC UGT2B4 7363 broad.mit.edu 37 4 70346370 70346370 + Silent SNP C C T TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr4:70346370C>T ENST00000305107.6 - 6.0 1615 c.1569G>A c.(1567-1569)aaG>aaA p.K523K UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000381096.3_Silent_p.K387K|UGT2B4_ENST00000506580.1_5'UTR NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 523.0 cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) glucuronosyltransferase activity (GO:0015020) 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) 47.0 Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295) TTTTCCCCTTCTTTCCTGTTC 0.408 0 145.0 145.0 145.0 4 70346370.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC026264 CCDS43234.1, CCDS75137.1 4q13 2008-02-05 2005-07-20 ENSG00000156096 7363.0 7363.0 """UDP glucuronosyltransferases""" 12553.0 protein-coding gene gene with protein product 600067.0 """UDP glycosyltransferase 2 family, polypeptide B4""" 3109396, 7835904 Standard NM_021139 NM_021139 Approved UGT2B11 uc003hek.4 P06133 ENST00000305107.6:c.1569G>A 4.__UNKNOWN__:g.70346370C>T A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7 __UNKNOWN__ CCDS43234.1 UGT2B4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000365526.1 - ENST00000305107.6 Silent SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC TEK 7010 broad.mit.edu 37 9 27180335 27180335 + Silent SNP A A G rs111637971 TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr9:27180335A>G ENST00000519097.1 + 6.0 1039 TEK_ENST00000380036.4_Silent_p.P333P|TEK_ENST00000406359.4_Intron Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15.0 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294) TCTGCTCTCCAGGATGGCAGG 0.507 0 101.0 80.0 87.0 9 27180335.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant L06139 CCDS6519.1, CCDS75825.1 9p21 2013-02-11 2008-07-31 ENSG00000120156 ENSG00000120156 7010.0 7010.0 """CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 11724.0 protein-coding gene gene with protein product 600221.0 """venous malformations, multiple cutaneous and mucosal""" VMCM 1312667, 7833915 Standard XM_005251561 Approved TIE2, TIE-2, VMCM1, CD202b uc003zqi.4 Q02763 OTTHUMG00000019712 ENST00000519097.1:c.590-3122A>G 9.__UNKNOWN__:g.27180335A>G A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34 __UNKNOWN__ TEK-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000379465.1 + ENST00000519097.1 Intron SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC MAML1 9794 broad.mit.edu 37 5 179193112 179193112 + Silent SNP A A C TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr5:179193112A>C ENST00000292599.3 + 2.0 1364 c.1101A>C c.(1099-1101)tcA>tcC p.S367S MAML1_ENST00000503050.1_3'UTR NM_014757.4 NP_055572.1 mastermind-like 1 (Drosophila) 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) 36.0 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) TGCCGGCATCAGCCCAGGCCC 0.627 0 43.0 44.0 44.0 5 179193112.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D83785 CCDS34315.1 5q35 2008-07-18 2001-11-28 ENSG00000161021 9794.0 9794.0 13632.0 protein-coding gene gene with protein product """mastermind homolog""" 605424.0 """mastermind (drosophila)-like 1""" 11101851, 11390662 Standard NM_014757 NM_014757 Approved KIAA0200, Mam-1 uc003mkm.3 Q92585 ENST00000292599.3:c.1101A>C 5.__UNKNOWN__:g.179193112A>C __UNKNOWN__ CCDS34315.1 MAML1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000372316.2 + ENST00000292599.3 Silent SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC IGKV1D-16 0 broad.mit.edu 37 2 90139477 90139477 + RNA SNP G G A rs2848291 by1000genomes TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr2:90139477G>A ENST00000492446.1 + 0.0 275 immunoglobulin kappa variable 1D-16 GTCCCATCAAGGTTCAGCGGC 0.483 0 95.0 98.0 97.0 2 90139477.0 1847.0 4084.0 5931.0 K01323 2p11.2 2012-02-08 ENSG00000241244 ENSG00000241244 28901.0 28901.0 """Immunoglobulins / IGK locus""" 5748.0 other immunoglobulin gene Standard NG_000833 NG_000833 Approved OTTHUMG00000151569 ENST00000492446.1: 2.__UNKNOWN__:g.90139477G>A __UNKNOWN__ IGKV1D-16-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene IG_V_gene OTTHUMT00000323144.2 + ENST00000492446.1 RNA SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC KIAA1217 56243 broad.mit.edu 37 10 24669920 24669920 + Silent SNP T T C TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr10:24669920T>C ENST00000376454.3 + 3.0 507 c.477T>C c.(475-477)ccT>ccC p.P159P KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000376452.3_Silent_p.P159P|KIAA1217_ENST00000430453.2_Silent_p.P80P NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 159.0 embryonic skeletal system development (GO:0048706) cytoplasm (GO:0005737) 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) 70.0 CTCCAACCCCTTTTTCCAGAG 0.542 0 62.0 63.0 63.0 10 24669920.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BX640796 CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1 10p12.31 2009-09-16 ENSG00000120549 ENSG00000120549 56243.0 56243.0 25428.0 protein-coding gene gene with protein product """sickle tail""" 10574462 Standard NM_019590 XM_005252500 Approved DKFZP761L0424, SKT uc001iru.4 Q5T5P2 OTTHUMG00000017824 ENST00000376454.3:c.477T>C 10.__UNKNOWN__:g.24669920T>C A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3 __UNKNOWN__ CCDS31165.1 KIAA1217-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000047223.2 + ENST00000376454.3 Silent SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC GPR98 84059 broad.mit.edu 37 5 90074890 90074890 + Missense_Mutation SNP T T G TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr5:90074890T>G ENST00000405460.2 + 64.0 13154 c.13058T>G c.(13057-13059)aTt>aGt p.I4353S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4353.0 Calx-beta 29. {ECO:0000255}. detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) 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) 269.0 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) TCTCTAACAATTACAAAGGTG 0.423 0 31.0 30.0 30.0 5 90074890.0 1831.0 4095.0 5926.0 SO:0001583 missense AB014586 CCDS47246.1 5q13 2014-08-08 2006-05-26 2006-05-26 ENSG00000164199 ENSG00000164199 84059.0 84059.0 """-"", ""GPCR / Class B : Orphans""" 17416.0 protein-coding gene gene with protein product 602851.0 """monogenic, audiogenic seizure susceptibility 1 homolog (mouse)""" USH2C, MASS1 10976914, 14740321 Standard NM_032119 NM_032119 Approved DKFZp761P0710, KIAA0686, FEB4, VLGR1b uc003kju.3 Q8WXG9 OTTHUMG00000162668 ENST00000405460.2:c.13058T>G 5.__UNKNOWN__:g.90074890T>G ENSP00000384582:p.Ile4353Ser O75171|Q8TF58|Q9H0X5|Q9UL61 __UNKNOWN__ CCDS47246.1 . . . . . . . . . . T 21.0 4.087527 0.76642 . . ENSG00000164199 ENST00000405460;ENST00000296619 T 0.38722 1.12 5.8 5.8 0.92144 Na-Ca exchanger/integrin-beta4 (2); 0.187549 0.56097 D 0.000038 T 0.54951 0.1890 M 0.87971 2.92 0.80722 D 1 P 0.36354 0.549 B 0.38985 0.287 T 0.63233 -0.6683 10 0.87932 D 0 . 16.1508 0.81622 0.0:0.0:0.0:1.0 . 4353 Q8WXG9 GPR98_HUMAN S 4353 ENSP00000384582:I4353S ENSP00000296619:I4353S I + 2 0 GPR98 90110646 1.000000 0.71417 0.223000 0.23860 0.739000 0.42172 7.230000 0.78097 2.207000 0.71202 0.528000 0.53228 ATT GPR98-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000369993.2 + ENST00000405460.2 Missense_Mutation SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC PPFIA2 8499 broad.mit.edu 37 12 81741405 81741405 + Silent SNP C C A TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr12:81741405C>A ENST00000549396.1 - 18.0 2299 c.2139G>T c.(2137-2139)ctG>ctT p.L713L PPFIA2_ENST00000541570.2_Silent_p.L280L|PPFIA2_ENST00000550359.2_Silent_p.L560L|PPFIA2_ENST00000552948.1_Silent_p.L713L|PPFIA2_ENST00000550584.2_Silent_p.L713L|PPFIA2_ENST00000333447.7_Silent_p.L695L|PPFIA2_ENST00000407050.4_Silent_p.L639L|PPFIA2_ENST00000549325.1_Silent_p.L695L|PPFIA2_ENST00000443686.3_Silent_p.L614L|PPFIA2_ENST00000548586.1_Silent_p.L713L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Intron NM_001220476.1|NM_001282536.1|NM_003625.3 NP_001207405.1|NP_001269465.1|NP_003616.2 O75334 LIPA2_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 713.0 cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786) 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) 85.0 ATGAACTGGCCAGCGATGAAG 0.532 0 147.0 154.0 151.0 12 81741405.0 2000.0 4154.0 6154.0 SO:0001819 synonymous_variant AF034799 CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1 12q21.31 2013-01-10 8499.0 8499.0 """Sterile alpha motif (SAM) domain containing""" 9246.0 protein-coding gene gene with protein product """Liprin-alpha2""" 603143.0 9624153 Standard NM_003625 Approved uc031qis.1 O75334 ENST00000549396.1:c.2139G>T 12.__UNKNOWN__:g.81741405C>A B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8 __UNKNOWN__ CCDS55857.1 PPFIA2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000408030.1 - ENST00000549396.1 Silent SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC FGFR1 2260 broad.mit.edu 37 8 38274849 38274849 + Missense_Mutation SNP G G T TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr8:38274849G>T ENST00000397103.1 - 10.0 1427 c.1371C>A c.(1369-1371)aaC>aaA p.N457K FGFR1_ENST00000447712.2_Missense_Mutation_p.N546K|FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K|FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K|FGFR1_ENST00000341462.5_Missense_Mutation_p.N546K|FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 546.0 angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847) cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713) p.N546K(4) FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50.0 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398) CCCCCAGCAGGTTGATGATAT 0.542 1.0 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" Melanoma(146;1153 1840 21453 21841 43625) Dom yes 8 8p11.2-p11.1 2260.0 fibroblast growth factor receptor 1 yes L 4 Substitution - Missense(4) central_nervous_system(4) 87.0 95.0 92.0 8 38274849.0 2154.0 4289.0 6443.0 SO:0001583 missense M34185 CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1 8p11.23-p11.22 2014-04-03 2008-08-01 ENSG00000077782 ENSG00000077782 2260.0 2260.0 2.7.10.1 """CD molecules"", ""Immunoglobulin superfamily / I-set domain containing""" 3688.0 protein-coding gene gene with protein product """Pfeiffer syndrome""" 136350.0 """fms-related tyrosine kinase 2""" FLT2, KAL2 2162671 Standard NM_015850 Approved H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331 uc011lbu.2 P11362 OTTHUMG00000147366 ENST00000397103.1:c.1371C>A 8.__UNKNOWN__:g.38274849G>T ENSP00000380292:p.Asn457Lys A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2 __UNKNOWN__ . . . . . . . . . . G 23.4 4.406498 0.83230 . . ENSG00000077782 ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108 D;D;D;D;D;D;D;D;D;D;D 0.90620 -2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7 5.57 3.76 0.43208 Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 D 0.87577 0.6212 N 0.04387 -0.21 0.80722 D 1 D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0 D;D;D;D;D 0.97110 1.0;1.0;1.0;1.0;1.0 D 0.88572 0.3130 10 0.87932 D 0 . 9.3132 0.37919 0.2169:0.0:0.7831:0.0 . 455;455;546;536;544 P11362-14;P11362-4;P11362;P11362-20;P11362-2 .;.;FGFR1_HUMAN;.;. K 544;577;546;546;546;544;544;457;536;455;457;544 ENSP00000380280:N544K;ENSP00000393312:N577K;ENSP00000400162:N546K;ENSP00000340636:N546K;ENSP00000432972:N544K;ENSP00000380302:N544K;ENSP00000348537:N457K;ENSP00000337247:N536K;ENSP00000327229:N455K;ENSP00000380292:N457K;ENSP00000380297:N544K ENSP00000311337:N546K N - 3 2 FGFR1 38394006 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 2.001000 0.40825 1.491000 0.48482 0.655000 0.94253 AAC FGFR1-011 NOVEL non_canonical_conserved|basic|exp_conf protein_coding protein_coding OTTHUMT00000304020.1 - ENST00000397103.1 Missense_Mutation SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC RBM33 155435 broad.mit.edu 37 7 155503998 155503998 + Silent SNP G G A TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr7:155503998G>A ENST00000401878.3 + 8.0 1248 c.1050G>A c.(1048-1050)ccG>ccA p.P350P RBM33_ENST00000486747.1_3'UTR NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 350.0 Pro-rich. nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27.0 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) TGCAGCACCCGCACCACCCAT 0.682 0 43.0 53.0 50.0 7 155503998.0 2062.0 4197.0 6259.0 SO:0001819 synonymous_variant AL832196 CCDS5941.2 7q36.3 2013-02-12 ENSG00000184863 ENSG00000184863 155435.0 155435.0 """RNA binding motif (RRM) containing""" 27223.0 protein-coding gene gene with protein product """proline rich 8""" PRR8 Standard NM_001008408 NM_053043 Approved DKFZp686F102, MGC20460, DKFZp434D1319 uc010lqk.1 Q96EV2 OTTHUMG00000150260 ENST00000401878.3:c.1050G>A 7.__UNKNOWN__:g.155503998G>A A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0 __UNKNOWN__ CCDS5941.2 . . . . . . . . . . G 3.126 -0.179450 0.06380 . . ENSG00000184863 ENST00000392761 . . . 5.1 -0.991 0.10235 . . . . . T 0.39809 0.1092 . . . 0.80722 D 1 . . . . . . T 0.25572 -1.0128 4 . . . . 1.3921 0.02253 0.3056:0.2323:0.3342:0.1279 . . . . H 122 . . R + 2 0 RBM33 155196759 0.003000 0.15002 0.970000 0.41538 0.162000 0.22319 -1.502000 0.02279 -0.070000 0.12908 0.557000 0.71058 CGC RBM33-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000317225.3 + ENST00000401878.3 Silent SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC TNFAIP3 7128 broad.mit.edu 37 6 138201287 138201287 + Silent SNP C C T TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr6:138201287C>T ENST00000237289.4 + 8.0 2052 c.1986C>T c.(1984-1986)tgC>tgT p.C662C 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 3 662.0 Interaction with TNIP1. {ECO:0000250}.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}. apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634) DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) p.0?(25)|p.C662fs*36(1) 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) 225.0 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) GGAGGGAATGCGGCACCCTTG 0.502 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" GBM(130;153 1739 22295 28918 47987) Rec yes 6 6q23 7128.0 """tumor necrosis factor, alpha-induced protein 3""" L 26 Whole gene deletion(25)|Complex - frameshift(1) haematopoietic_and_lymphoid_tissue(26) 98.0 89.0 92.0 6 138201287.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant M59465 CCDS5187.1 6q23-q25 2013-01-21 ENSG00000118503 ENSG00000118503 7128.0 7128.0 """OTU domain containing""" 11896.0 protein-coding gene gene with protein product 191163.0 2118515 Standard NM_006290 Approved A20, OTUD7C uc031spw.1 P21580 OTTHUMG00000015664 ENST00000237289.4:c.1986C>T 6.__UNKNOWN__:g.138201287C>T B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6 __UNKNOWN__ CCDS5187.1 . . . . . . . . . . C 9.607 1.130355 0.21041 . . ENSG00000118503 ENST00000544646 . . . 6.08 -6.69 0.01772 . . . . . T 0.62344 0.2420 . . . 0.80722 D 1 . . . . . . T 0.75895 -0.3156 5 0.87932 D 0 -17.8663 16.8377 0.85961 0.0:0.595:0.0:0.405 . . . . W 662 . ENSP00000442207:R662W R + 1 2 TNFAIP3 138242980 0.008000 0.16893 0.185000 0.23176 0.928000 0.56348 -1.071000 0.03437 -1.541000 0.01727 -0.302000 0.09304 CGG TNFAIP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042414.1 + ENST00000237289.4 Silent SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC DOCK2 1794 broad.mit.edu 37 5 169454924 169454924 + Nonsense_Mutation SNP G G T TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr5:169454924G>T ENST00000520908.1 + 20.0 2079 c.1915G>T c.(1915-1917)Gag>Tag p.E639* DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.E208*|DOCK2_ENST00000256935.8_Nonsense_Mutation_p.E1147* Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1147.0 actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608) 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) 160.0 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) CCGAGGCGACGAGCAGTACAT 0.517 0 114.0 104.0 108.0 5 169454924.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained BC016996 CCDS4371.1 5q35.1 2008-02-05 ENSG00000134516 ENSG00000134516 1794.0 1794.0 2988.0 protein-coding gene gene with protein product 603122.0 """dedicator of cyto-kinesis 2""" Standard NM_004946 NM_004946 Approved KIAA0209 uc003maf.3 Q92608 OTTHUMG00000130437 ENST00000520908.1:c.1915G>T 5.__UNKNOWN__:g.169454924G>T ENSP00000429283:p.Glu639* Q2M3I0|Q96AK7 __UNKNOWN__ . . . . . . . . . . G 50 16.276412 0.99859 . . ENSG00000134516 ENST00000256935;ENST00000520908;ENST00000540750 . . . 5.24 5.24 0.73138 . 0.119767 0.56097 D 0.000029 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.51188 T 0.08 . 13.7634 0.62979 0.0:0.0:0.8465:0.1535 . . . . X 1147;639;208 . ENSP00000256935:E1147X E + 1 0 DOCK2 169387502 1.000000 0.71417 0.950000 0.38849 0.768000 0.43524 5.159000 0.64923 2.455000 0.83008 0.555000 0.69702 GAG DOCK2-004 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000371643.1 + ENST00000520908.1 Nonsense_Mutation SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC SMTN 6525 broad.mit.edu 37 22 31484930 31484930 + Missense_Mutation SNP C C A TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr22:31484930C>A ENST00000358743.1 + 6.0 664 c.446C>A c.(445-447)gCg>gAg p.A149E SMTN_ENST00000333137.7_Missense_Mutation_p.A149E|SMTN_ENST00000347557.2_Missense_Mutation_p.A149E NM_134270.2 NP_599032.2 P53814 SMTN_HUMAN smoothelin 149.0 muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) actin binding (GO:0003779)|structural constituent of muscle (GO:0008307) breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25.0 AAGGGGCTAGCGGCACACAGG 0.607 OREG0026472 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 104.0 90.0 95.0 22 31484930.0 2203.0 4300.0 6503.0 SO:0001583 missense AY061972 CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1 22q12 2006-01-27 ENSG00000183963 ENSG00000183963 6525.0 6525.0 11126.0 protein-coding gene gene with protein product 602127.0 9244445, 8707825 Standard NM_134270 NM_006932 Approved uc011ale.2 P53814 OTTHUMG00000151203 ENST00000358743.1:c.446C>A 22.__UNKNOWN__:g.31484930C>A ENSP00000351593:p.Ala149Glu 825.0 O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2 __UNKNOWN__ CCDS13887.1 . . . . . . . . . . C 10.73 1.432241 0.25813 . . ENSG00000183963 ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000416786;ENST00000431481 T;T;T 0.71698 -0.17;-0.58;-0.59 4.76 -0.0642 0.13773 . 0.206982 0.24436 N 0.038558 T 0.57902 0.2085 L 0.29908 0.895 0.09310 N 0.999995 P;P;B;P;P;P 0.47409 0.894;0.769;0.002;0.895;0.769;0.852 B;B;B;B;B;P 0.46452 0.319;0.218;0.002;0.409;0.319;0.517 T 0.53606 -0.8415 10 0.66056 D 0.02 -0.5588 6.4987 0.22155 0.0:0.657:0.1527:0.1903 . 205;203;141;149;149;149 E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5 .;.;.;.;SMTN_HUMAN;. E 149;149;149;149;141;61;141 ENSP00000351593:A149E;ENSP00000328635:A149E;ENSP00000329532:A149E ENSP00000329393:A149E A + 2 0 SMTN 29814930 0.002000 0.14202 0.037000 0.18230 0.021000 0.10359 0.598000 0.24074 0.190000 0.20209 -1.149000 0.01842 GCG SMTN-003 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000321768.1 + ENST00000358743.1 Missense_Mutation SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC SPTA1 6708 broad.mit.edu 37 1 158582669 158582669 + Missense_Mutation SNP C C T TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr1:158582669C>T ENST00000368147.4 - 51.0 7252 c.7072G>A c.(7072-7074)Gag>Aag p.E2358K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2358.0 EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}. actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360) actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200) 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) 307.0 all_hematologic(112;0.0378) AAGGCATTCTCTATTTCATCA 0.468 0 121.0 118.0 119.0 1 158582669.0 1944.0 4149.0 6093.0 SO:0001583 missense M61877 CCDS41423.1 1q21 2014-06-23 2014-06-23 ENSG00000163554 ENSG00000163554 6708.0 6708.0 """EF-hand domain containing""" 11272.0 protein-coding gene gene with protein product """elliptocytosis 2""" 182860.0 """spectrin, alpha, erythrocytic 1 (elliptocytosis 2)""" Standard NM_003126 NM_003126 Approved EL2 uc001fst.1 P02549 OTTHUMG00000019636 ENST00000368147.4:c.7072G>A 1.__UNKNOWN__:g.158582669C>T ENSP00000357129:p.Glu2358Lys Q15514|Q5VYL1|Q5VYL2|Q6LDY5 __UNKNOWN__ CCDS41423.1 . . . . . . . . . . C 26.9 4.778270 0.90195 . . ENSG00000163554 ENST00000368148;ENST00000368147 T;T 0.21031 2.03;2.03 5.39 5.39 0.77823 EF-hand, Ca insensitive (1);EF-hand-like domain (1); 0.000000 0.32563 N 0.005934 T 0.32194 0.0821 L 0.45285 1.41 0.58432 D 0.999999 D 0.89917 1.0 D 0.81914 0.995 T 0.02053 -1.1222 10 0.66056 D 0.02 . 17.8981 0.88895 0.0:1.0:0.0:0.0 . 2358 P02549 SPTA1_HUMAN K 2358;2355 ENSP00000357130:E2358K;ENSP00000357129:E2355K ENSP00000357129:E2355K E - 1 0 SPTA1 156849293 1.000000 0.71417 1.000000 0.80357 0.478000 0.33099 6.962000 0.76048 2.795000 0.96236 0.655000 0.94253 GAG SPTA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051851.3 - ENST00000368147.4 Missense_Mutation SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC ZMYM1 79830 broad.mit.edu 37 1 35579445 35579445 + Missense_Mutation SNP G G C TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr1:35579445G>C ENST00000373330.1 + 11.0 2188 c.2014G>C c.(2014-2016)Gct>Cct p.A672P ZMYM1_ENST00000359858.4_Missense_Mutation_p.A672P|ZMYM1_ENST00000373329.1_3'UTR Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 672.0 nucleus (GO:0005634) nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) 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) 31.0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATCATCAAAGGCTATCTTAAT 0.368 0 73.0 68.0 69.0 1 35579445.0 1852.0 4085.0 5937.0 SO:0001583 missense AK096206 CCDS41302.1 1p34.3 2008-05-02 2005-09-12 ENSG00000197056 ENSG00000197056 79830.0 79830.0 """Zinc fingers, MYM type""" 26253.0 protein-coding gene gene with protein product """zinc finger, MYM domain containing 1""" 12477932 Standard NM_024772 XM_005271216 Approved FLJ23151, MYM uc001bym.3 Q5SVZ6 OTTHUMG00000004374 ENST00000373330.1:c.2014G>C 1.__UNKNOWN__:g.35579445G>C ENSP00000362427:p.Ala672Pro D3DPR7|Q7Z3Q4 __UNKNOWN__ CCDS41302.1 . . . . . . . . . . G 9.552 1.116180 0.20795 . . ENSG00000197056 ENST00000359858;ENST00000373329;ENST00000373330 T;T;T 0.23348 1.91;1.91;1.91 4.64 1.65 0.23941 Ribonuclease H-like (1); 0.398666 0.21772 N 0.069345 T 0.30386 0.0763 L 0.33668 1.02 0.09310 N 1 D;D 0.58620 0.983;0.983 P;P 0.62298 0.9;0.9 T 0.06006 -1.0851 9 . . . -4.6797 7.6192 0.28175 0.306:0.0:0.694:0.0 . 653;672 B4DSJ9;Q5SVZ6 .;ZMYM1_HUMAN P 672;597;672 ENSP00000352920:A672P;ENSP00000362426:A597P;ENSP00000362427:A672P . A + 1 0 ZMYM1 35352032 0.005000 0.15991 0.065000 0.19835 0.002000 0.02628 -0.033000 0.12246 0.389000 0.25086 0.655000 0.94253 GCT ZMYM1-001 NOVEL alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000012705.1 + ENST00000373330.1 Missense_Mutation SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC REV1 51455 broad.mit.edu 37 2 100065882 100065882 + Missense_Mutation SNP T T C TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr2:100065882T>C ENST00000258428.3 - 4.0 494 c.266A>G c.(265-267)cAt>cGt p.H89R REV1_ENST00000393445.3_Missense_Mutation_p.H89R|REV1_ENST00000465835.1_5'UTR NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 89.0 BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}. DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411) nucleoplasm (GO:0005654) damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39.0 GGCAATAATATGTGTTGTTTT 0.323 Direct reversal of damage 0 110.0 115.0 113.0 2 100065882.0 2202.0 4298.0 6500.0 SO:0001583 missense AF206019 CCDS2045.1, CCDS42722.1 2q11.1-q11.2 2012-05-18 2012-05-18 2006-11-07 ENSG00000135945 ENSG00000135945 51455.0 51455.0 """DNA polymerases""" 14060.0 protein-coding gene gene with protein product 606134.0 """REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)""" REV1L 10536157 Standard NM_016316 XM_005263968 Approved uc002tad.3 Q9UBZ9 OTTHUMG00000130636 ENST00000258428.3:c.266A>G 2.__UNKNOWN__:g.100065882T>C ENSP00000258428:p.His89Arg O95941|Q53SI7|Q9C0J4|Q9NUP2 __UNKNOWN__ CCDS2045.1 . . . . . . . . . . T 25.8 4.677799 0.88445 . . ENSG00000135945 ENST00000393445;ENST00000258428 T;T 0.23950 1.88;1.88 6.06 6.06 0.98353 BRCT (4); 0.000000 0.85682 D 0.000000 T 0.64159 0.2573 H 0.95004 3.61 0.80722 D 1 D;D;D 0.89917 1.0;0.999;0.999 D;D;D 0.91635 0.999;0.998;0.999 T 0.75116 -0.3431 10 0.87932 D 0 . 16.6245 0.84952 0.0:0.0:0.0:1.0 . 68;89;89 Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2 .;REV1_HUMAN;. R 89 ENSP00000377091:H89R;ENSP00000258428:H89R ENSP00000258428:H89R H - 2 0 REV1 99432314 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 7.665000 0.83852 2.323000 0.78572 0.528000 0.53228 CAT REV1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000253123.2 - ENST00000258428.3 Missense_Mutation SNP PCPG-TCGA-RW-A684-Normal-SM-5EQGC ADH4 127 broad.mit.edu 37 4 100047875 100047875 + Frame_Shift_Del DEL T T - TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr4:100047875delT ENST00000508393.1 - 9.0 1210 c.1045delA c.(1045-1047)agtfs p.S349fs RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000423445.1_Frame_Shift_Del_p.S349fs|ADH4_ENST00000265512.7_Frame_Shift_Del_p.S330fs|ADH4_ENST00000505590.1_Frame_Shift_Del_p.S349fs P08319 ADH4_HUMAN alcohol dehydrogenase 4 (class II), pi polypeptide 330.0 alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270) NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18.0 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) GAATCTACACTTTTCCAACCT 0.373 0 89.0 88.0 88.0 4 100047875.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant M15943 CCDS34032.1 4q22 2008-02-05 ENSG00000198099 127.0 127.0 1.1.1.1 """Alcohol dehydrogenases""" 252.0 protein-coding gene gene with protein product 103740.0 Standard NM_000670 NM_000670 Approved ADH-2 uc003hun.3 P08319 ENST00000508393.1:c.1045delA 4.__UNKNOWN__:g.100047875delT ENSP00000424630:p.Ser349fs A8K470|B4DIE7|C9J4A9|Q8TCD7 __UNKNOWN__ ADH4-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000364221.1 - ENST00000508393.1 Frame_Shift_Del DEL PCPG-TCGA-RW-A684-Normal-SM-5EQGC ARHGEF17 9828 broad.mit.edu 37 11 73074835 73074835 + Frame_Shift_Del DEL A A - TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr11:73074835delA ENST00000263674.3 + 16.0 5640 c.5290delA c.(5290-5292)aacfs p.N1764fs NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1764.0 actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32.0 TGACCGCAGGAACAGCATGAA 0.602 0 144.0 120.0 128.0 11 73074835.0 2200.0 4293.0 6493.0 SO:0001589 frameshift_variant AF378754 CCDS8221.1 11q13.3 2011-11-16 ENSG00000110237 ENSG00000110237 9828.0 9828.0 """Rho guanine nucleotide exchange factors""" 21726.0 protein-coding gene gene with protein product """Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4""" 11559528, 12071859 Standard NM_014786 NM_014786 Approved TEM4, KIAA0337, p164-RhoGEF uc001otu.3 Q96PE2 OTTHUMG00000167971 ENST00000263674.3:c.5290delA 11.__UNKNOWN__:g.73074835delA ENSP00000263674:p.Asn1764fs B2RP20|Q86XU2|Q8N2S0|Q9Y4G3 __UNKNOWN__ CCDS8221.1 ARHGEF17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000397365.1 + ENST00000263674.3 Frame_Shift_Del DEL PCPG-TCGA-RW-A684-Normal-SM-5EQGC NF1 4763 broad.mit.edu 37 17 29554565 29554565 + Missense_Mutation SNP T T A TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr17:29554565T>A ENST00000358273.4 + 20.0 2733 c.2350T>A c.(2350-2352)Tgg>Agg p.W784R NF1_ENST00000356175.3_Missense_Mutation_p.W784R NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 784.0 W -> C (in NF1; dbSNP:rs199474778). {ECO:0000269|PubMed:11735023}.|W -> R (in NF1; dbSNP:rs199474730). {ECO:0000269|PubMed:11857752, ECO:0000269|PubMed:15146469}. actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060) axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634) phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099) p.0?(8)|p.?(4)|p.H781_Q786del(1)|p.T780_Q786>K(1) 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) 599.0 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) ACATGCAAAATGGGAACAAGC 0.383 """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) yes Rec yes Neurofibromatosis type 1 17 17q12 4763.0 neurofibromatosis type 1 gene O 14 Whole gene deletion(8)|Unknown(4)|Complex - deletion inframe(1)|Deletion - In frame(1) soft_tissue(9)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1) GRCh37 CM020464 NF1 M 101.0 89.0 93.0 17 29554565.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome CCDS11264.1, CCDS42292.1, CCDS45645.1 17q11.2 2014-09-17 2008-07-31 ENSG00000196712 ENSG00000196712 4763.0 4763.0 7765.0 protein-coding gene gene with protein product """neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease""" 613113.0 1715669 Standard NM_000267 NM_000267 Approved uc002hgg.3 P21359 OTTHUMG00000132871 ENST00000358273.4:c.2350T>A 17.__UNKNOWN__:g.29554565T>A ENSP00000351015:p.Trp784Arg O00662|Q14284|Q14930|Q14931|Q9UMK3 __UNKNOWN__ CCDS42292.1 . . . . . . . . . . . 22.6 4.309446 0.81247 . . ENSG00000196712 ENST00000358273;ENST00000356175;ENST00000456735 T;T;T 0.64991 -0.13;-0.13;0.9 4.83 4.83 0.62350 Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.74854 0.3771 L 0.52905 1.665 0.80722 D 1 D;D;D 0.89917 1.0;0.994;1.0 D;D;D 0.91635 0.999;0.986;0.998 T 0.77953 -0.2394 10 0.87932 D 0 . 14.6843 0.69040 0.0:0.0:0.0:1.0 . 784;784;784 E1P657;P21359-2;P21359 .;.;NF1_HUMAN R 784;784;450 ENSP00000351015:W784R;ENSP00000348498:W784R;ENSP00000389907:W450R ENSP00000348498:W784R W + 1 0 NF1 26578691 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.529000 0.81952 1.937000 0.56155 0.528000 0.53228 TGG NF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256351.2 + ENST00000358273.4 Missense_Mutation SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP RORC 0 broad.mit.edu 37 1 151786011 151786011 + Missense_Mutation SNP C C T TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr1:151786011C>T ENST00000318247.6 - 7.0 1126 c.1019G>A c.(1018-1020)gGc>gAc p.G340D RORC_ENST00000356728.6_Missense_Mutation_p.G319D|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Missense_Mutation_p.G394D NM_005060.3 NP_005051.2 P51449 RORG_HUMAN RAR-related orphan receptor C 340.0 Ligand-binding. adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805) nucleoplasm (GO:0005654)|nucleus (GO:0005634) direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19.0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CTCCATAAAGCCTGAGAGCCT 0.602 0 88.0 81.0 84.0 1 151786011.0 2203.0 4300.0 6503.0 SO:0001583 missense U16997 CCDS1004.1, CCDS30856.1 1q21 2013-01-16 ENSG00000143365 ENSG00000143365 6097.0 """Nuclear hormone receptors""" 10260.0 protein-coding gene gene with protein product 602943.0 7811290 Standard NM_005060 Approved RZRG, RORG, NR1F3, TOR uc001ezh.3 P51449 OTTHUMG00000013053 ENST00000318247.6:c.1019G>A 1.__UNKNOWN__:g.151786011C>T ENSP00000327025:p.Gly340Asp Q5SZR9|Q8N5V7|Q8NCY8 __UNKNOWN__ CCDS1004.1 . . . . . . . . . . C 32 5.110583 0.94292 . . ENSG00000143365 ENST00000356728;ENST00000392697;ENST00000318247 D;D;D 0.97209 -4.29;-4.29;-4.29 5.3 5.3 0.74995 Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2); 0.000000 0.64402 U 0.000003 D 0.98804 0.9597 M 0.92412 3.305 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 0.999;0.999;1.0;1.0 D 0.99816 1.1044 10 0.87932 D 0 . 17.5195 0.87783 0.0:1.0:0.0:0.0 . 340;394;340;319 B6ZGS6;B4DPR1;P51449;F1D8P6 .;.;RORG_HUMAN;. D 319;394;340 ENSP00000349164:G319D;ENSP00000376461:G394D;ENSP00000327025:G340D ENSP00000327025:G340D G - 2 0 RORC 150052635 1.000000 0.71417 0.997000 0.53966 0.973000 0.67179 7.794000 0.85869 2.469000 0.83416 0.563000 0.77884 GGC RORC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000036626.1 - ENST00000318247.6 Missense_Mutation SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP KLF10 7071 broad.mit.edu 37 8 103662557 103662557 + Missense_Mutation SNP G G C TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr8:103662557G>C ENST00000285407.6 - 4.0 1546 c.1246C>G c.(1246-1248)Ctg>Gtg p.L416V KLF10_ENST00000395884.3_Missense_Mutation_p.L405V NM_005655.2 NP_005646.1 Q13118 KLF10_HUMAN Kruppel-like factor 10 416.0 bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) nucleus (GO:0005634) core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3) 18.0 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) TGTCTGGACAGTTCATCAGAA 0.478 Esophageal Squamous(16;495 519 2144 16528 44005) 0 97.0 88.0 91.0 8 103662557.0 2203.0 4300.0 6503.0 SO:0001583 missense U21847 CCDS6294.1, CCDS47905.1 8q22.3 2014-09-17 2004-11-29 2004-12-01 ENSG00000155090 ENSG00000155090 7071.0 7071.0 """Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type""" 11810.0 protein-coding gene gene with protein product 601878.0 """TGFB inducible early growth response""" TIEG 8584037, 9721211 Standard NM_001032282 Approved EGRA, TIEG1 uc011lhk.1 Q13118 OTTHUMG00000164735 ENST00000285407.6:c.1246C>G 8.__UNKNOWN__:g.103662557G>C ENSP00000285407:p.Leu416Val A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2 __UNKNOWN__ CCDS6294.1 . . . . . . . . . . G 24.0 4.485331 0.84854 . . ENSG00000155090 ENST00000285407;ENST00000395884 T;T 0.52983 0.64;0.64 5.79 5.79 0.91817 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.56097 D 0.000021 T 0.75133 0.3808 M 0.87456 2.885 0.80722 D 1 D;D 0.89917 1.0;0.998 D;D 0.97110 1.0;0.998 T 0.78593 -0.2144 10 0.87932 D 0 . 20.04 0.97581 0.0:0.0:1.0:0.0 . 416;405 Q13118;O75411 KLF10_HUMAN;. V 416;405 ENSP00000285407:L416V;ENSP00000379222:L405V ENSP00000285407:L416V L - 1 2 KLF10 103731733 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.750000 0.98875 2.733000 0.93635 0.655000 0.94253 CTG KLF10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000379967.1 - ENST00000285407.6 Missense_Mutation SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP POU6F2 11281 broad.mit.edu 37 7 39247055 39247055 + Missense_Mutation SNP C C T TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr7:39247055C>T ENST00000518318.2 + 4.0 389 c.347C>T c.(346-348)gCc>gTc p.A116V POU6F2_ENST00000559001.1_Missense_Mutation_p.A108V|POU6F2_ENST00000403058.1_Missense_Mutation_p.A116V|POU6F2_ENST00000517348.1_3'UTR P78424 PO6F2_HUMAN POU class 6 homeobox 2 116.0 central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42.0 GGCCCCCCAGCCCTCAACCAG 0.577 0 98.0 101.0 100.0 7 39247055.0 2203.0 4300.0 6503.0 SO:0001583 missense U91934 CCDS34620.2, CCDS55103.1 7p14.1 2011-06-20 2007-07-13 ENSG00000106536 ENSG00000106536 11281.0 11281.0 """Homeoboxes / POU class""" 21694.0 protein-coding gene gene with protein product """Retina-derived POU-domain factor-1""" 609062.0 """POU domain, class 6, transcription factor 2""" 8601806 Standard NM_007252 NM_007252 Approved RPF-1 uc003thb.2 P78424 OTTHUMG00000150803 ENST00000518318.2:c.347C>T 7.__UNKNOWN__:g.39247055C>T ENSP00000430514:p.Ala116Val A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7 __UNKNOWN__ CCDS55103.1 . . . . . . . . . . C 22.4 4.291301 0.80914 . . ENSG00000106536 ENST00000403058;ENST00000518318;ENST00000451021 D;D 0.88354 -2.36;-2.37 6.17 6.17 0.99709 . 1.293710 0.05365 N 0.534486 D 0.90075 0.6900 L 0.29908 0.895 0.32672 N 0.516707 P;B 0.45531 0.86;0.376 P;B 0.47075 0.536;0.141 D 0.85159 0.0991 10 0.72032 D 0.01 . 20.8794 0.99867 0.0:1.0:0.0:0.0 . 116;116 P78424-2;P78424 .;PO6F2_HUMAN V 116;116;117 ENSP00000384004:A116V;ENSP00000430514:A116V ENSP00000384004:A116V A + 2 0 POU6F2 39213580 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 6.155000 0.71833 2.941000 0.99782 0.655000 0.94253 GCC POU6F2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320145.5 + ENST00000518318.2 Missense_Mutation SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP BIRC5 332 broad.mit.edu 37 17 76212110 76212110 + Silent SNP C C A TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr17:76212110C>A ENST00000350051.3 + 3.0 340 BIRC5_ENST00000374948.2_Intron|AC087645.1_ENST00000600484.1_Intron|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000301633.4_Silent_p.I95I NM_001168.2 NP_001159.2 O15392 BIRC5_HUMAN baculoviral IAP repeat containing 5 apoptotic process (GO:0006915)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|establishment of chromosome localization (GO:0051303)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of mitotic cell cycle (GO:0045931)|protein complex localization (GO:0031503)|protein phosphorylation (GO:0006468)|spindle checkpoint (GO:0031577)|transcription, DNA-templated (GO:0006351) centriole (GO:0005814)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|interphase microtubule organizing center (GO:0031021)|microtubule (GO:0005874)|midbody (GO:0030496)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|spindle microtubule (GO:0005876) chaperone binding (GO:0051087)|cobalt ion binding (GO:0050897)|cofactor binding (GO:0048037)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Ran GTPase binding (GO:0008536)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270) kidney(1)|urinary_tract(1) 2.0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153) gcgggcggatcacgaggtcag 0.562 0 34.0 36.0 35.0 17 76212110.0 2203.0 4296.0 6499.0 SO:0001627 intron_variant U75285 CCDS11755.1, CCDS32751.1, CCDS32752.1 17q25.3 2013-01-17 2011-01-25 ENSG00000089685 ENSG00000089685 332.0 332.0 """Baculoviral IAP repeat containing""" 593.0 protein-coding gene gene with protein product """survivin variant 3 alpha""" 603352.0 """apoptosis inhibitor 4"", ""baculoviral IAP repeat-containing 5""" API4 8106347, 7947793 Standard NM_001168 XR_243654 Approved EPR-1, survivin uc002jvf.3 O15392 ENST00000350051.3:c.222-635C>A 17.__UNKNOWN__:g.76212110C>A A2SUH6|B2R4R1|Q2I3N8|Q4VGX0|Q53F61|Q5MGC6|Q6FHL2|Q75SP2|Q9P2W8 __UNKNOWN__ CCDS11755.1 BIRC5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000437231.2 + ENST00000350051.3 Intron SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP APBB2 323 broad.mit.edu 37 4 41015773 41015773 + Missense_Mutation SNP C C T TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr4:41015773C>T ENST00000508593.1 - 6.0 1205 c.662G>A c.(661-663)gGc>gAc p.G221D APBB2_ENST00000513140.1_Missense_Mutation_p.G221D|APBB2_ENST00000295974.8_Missense_Mutation_p.G221D|APBB2_ENST00000506352.1_Missense_Mutation_p.G221D Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 221.0 axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202) beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134) central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34.0 GGCTACTTGGCCGTCTTCAGG 0.567 Ovarian(3;20 75 16686 49997) 0 338.0 332.0 334.0 4 41015773.0 2035.0 4187.0 6222.0 SO:0001583 missense U62325 CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1 4p13 2011-10-10 2008-07-31 ENSG00000163697 ENSG00000163697 323.0 323.0 582.0 protein-coding gene gene with protein product """Fe65-like""" 602710.0 8955346, 9585438 Standard NM_173075 NM_173075 Approved FE65L, FE65L1, MGC35575 uc003gvn.3 Q92870 OTTHUMG00000160416 ENST00000508593.1:c.662G>A 4.__UNKNOWN__:g.41015773C>T ENSP00000427211:p.Gly221Asp B4DSL4|E9PG87|Q8IUI6 __UNKNOWN__ CCDS54762.1 . . . . . . . . . . C 12.35 1.912893 0.33815 . . ENSG00000163697 ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352 T;T;T;T 0.26810 1.71;1.71;1.71;1.71 6.04 6.04 0.98038 . 0.222150 0.48286 D 0.000191 T 0.22589 0.0545 N 0.08118 0 0.80722 D 1 D;P;P;P 0.57257 0.979;0.611;0.731;0.736 P;B;B;B 0.48552 0.581;0.118;0.234;0.118 T 0.04203 -1.0969 10 0.35671 T 0.21 -32.2724 20.5948 0.99439 0.0:1.0:0.0:0.0 . 204;221;221;221 B4DJ88;E9PG87;Q92870-2;Q92870 .;.;.;APBB2_HUMAN D 221;220;221;221;221 ENSP00000295974:G221D;ENSP00000426018:G221D;ENSP00000427211:G221D;ENSP00000421539:G221D ENSP00000295974:G221D G - 2 0 APBB2 40710530 1.000000 0.71417 0.844000 0.33320 0.033000 0.12548 3.916000 0.56416 2.873000 0.98535 0.563000 0.77884 GGC APBB2-003 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000360524.1 - ENST00000508593.1 Missense_Mutation SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP PCDHGC3 0 broad.mit.edu 37 5 140856203 140856203 + Missense_Mutation SNP C C G TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr5:140856203C>G ENST00000308177.3 + 1.0 624 c.520C>G c.(520-522)Ctg>Gtg p.L174V PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 Q9UN70 PCDGK_HUMAN protocadherin gamma subfamily C, 3 174.0 Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}. calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29.0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACCTATGAGCTGAGCCGAAA 0.602 0 49.0 51.0 50.0 5 140856203.0 2203.0 4300.0 6503.0 SO:0001583 missense AF152337 CCDS4261.1, CCDS75347.1, CCDS75348.1 5q31 2010-01-26 ENSG00000240184 ENSG00000240184 5098.0 5098.0 """Cadherins / Protocadherins : Clustered""" 8716.0 other protocadherin """cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43""" 603627.0 PCDH2 9360932, 8508762 Standard NM_002588 NM_032402 Approved PC-43, PC43, PCDH-GAMMA-C3 Q9UN70 OTTHUMG00000129613 ENST00000308177.3:c.520C>G 5.__UNKNOWN__:g.140856203C>G ENSP00000312070:p.Leu174Val O60622|Q08192|Q9Y5C4 __UNKNOWN__ CCDS4261.1 . . . . . . . . . . C 15.43 2.831386 0.50845 . . ENSG00000240184 ENST00000308177 T 0.55588 0.51 5.27 5.27 0.74061 Cadherin (4);Cadherin-like (1); . . . . T 0.69396 0.3106 M 0.71871 2.18 0.25514 N 0.987433 D;D 0.61697 0.981;0.99 P;D 0.63113 0.871;0.911 T 0.62751 -0.6788 9 0.72032 D 0.01 . 13.9797 0.64297 0.1513:0.8487:0.0:0.0 . 174;174 Q9UN70;Q9UN70-2 PCDGK_HUMAN;. V 174 ENSP00000312070:L174V ENSP00000312070:L174V L + 1 2 PCDHGC3 140836387 0.397000 0.25270 1.000000 0.80357 0.995000 0.86356 1.031000 0.30165 2.722000 0.93159 0.655000 0.94253 CTG PCDHGC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251808.2 + ENST00000308177.3 Missense_Mutation SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP FN1 2335 broad.mit.edu 37 2 216264046 216264046 + Silent SNP G G A TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr2:216264046G>A ENST00000354785.4 - 21.0 3651 c.3282C>T c.(3280-3282)taC>taT p.Y1094Y FN1_ENST00000443816.1_Silent_p.Y1094Y|FN1_ENST00000432072.2_Silent_p.Y1094Y|FN1_ENST00000357009.2_Silent_p.Y1094Y|FN1_ENST00000323926.6_Silent_p.Y1094Y|FN1_ENST00000446046.1_Silent_p.Y1094Y|FN1_ENST00000346544.3_Silent_p.Y1094Y|FN1_ENST00000421182.1_Silent_p.Y1094Y|FN1_ENST00000345488.5_Silent_p.Y1094Y|FN1_ENST00000357867.4_Silent_p.Y1094Y|FN1_ENST00000356005.4_Silent_p.Y1094Y|FN1_ENST00000336916.4_Silent_p.Y1094Y|FN1_ENST00000359671.1_Silent_p.Y1094Y P02751 FINC_HUMAN fibronectin 1 1094.0 Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}. acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446) apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093) collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020) 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) 109.0 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) Ocriplasmin(DB08888) CCTCGGTGTTGTAAGGTGGAA 0.428 0 150.0 141.0 144.0 2 216264046.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1 2q34 2014-01-30 ENSG00000115414 ENSG00000115414 2335.0 2335.0 """Fibronectin type III domain containing"", ""Endogenous ligands""" 3778.0 protein-coding gene gene with protein product """migration-stimulating factor"", ""cold-insoluble globulin""" 135600.0 2992939, 3003095 Standard NM_212476 NM_054034 Approved MSF, CIG, LETS, GFND2, FINC uc002vfa.3 P02751 OTTHUMG00000133054 ENST00000354785.4:c.3282C>T 2.__UNKNOWN__:g.216264046G>A B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2 __UNKNOWN__ CCDS42814.1 FN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256667.2 - ENST00000354785.4 Silent SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP CDK5RAP2 55755 broad.mit.edu 37 9 123342198 123342198 + Splice_Site SNP C C T TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr9:123342198C>T ENST00000349780.4 - 1.0 238 c.59G>A c.(58-60)aGt>aAt p.S20N CDK5RAP2_ENST00000360822.3_Splice_Site_p.S20N|CDK5RAP2_ENST00000360190.4_Splice_Site_p.S20N|CDK5RAP2_ENST00000359309.3_Splice_Site_p.S20N NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 20.0 brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231) cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922) calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631) breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58.0 CCGGCCGCACCTGCAGCCGCT 0.642 0 41.0 34.0 36.0 9 123342198.0 2203.0 4299.0 6502.0 SO:0001630 splice_region_variant BK005504 CCDS6823.1, CCDS43871.1, CCDS75888.1 9q33.3 2014-02-21 ENSG00000136861 ENSG00000136861 55755.0 55755.0 18672.0 protein-coding gene gene with protein product """centrosomin""" 608201.0 """microcephaly, primary autosomal recessive 3""" MCPH3 10721722, 17764569, 24466316 Standard NM_018249 NM_018249 Approved C48, FLJ10867, CEP215 uc004bkf.4 Q96SN8 OTTHUMG00000021043 ENST00000349780.4:c.59+1G>A 9.__UNKNOWN__:g.123342198C>T Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9 __UNKNOWN__ CCDS6823.1 . . . . . . . . . . C 23.3 4.403366 0.83230 . . ENSG00000136861 ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313 T;T;T;T 0.04809 3.71;3.55;3.67;3.57 4.99 4.99 0.66335 . 0.000000 0.56097 D 0.000032 T 0.12433 0.0302 L 0.32530 0.975 0.31564 N 0.6572 D;P;D 0.76494 0.999;0.873;0.998 D;B;D 0.83275 0.996;0.382;0.991 T 0.01440 -1.1354 9 . . . . 13.9646 0.64200 0.0:1.0:0.0:0.0 . 20;20;20 Q96SN8-2;Q96SN8-4;Q96SN8 .;.;CK5P2_HUMAN N 20 ENSP00000354065:S20N;ENSP00000352258:S20N;ENSP00000343818:S20N;ENSP00000353317:S20N . S - 2 0 CDK5RAP2 122382019 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 2.944000 0.49034 2.745000 0.94114 0.655000 0.94253 AGT CDK5RAP2-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000055535.1 Missense_Mutation - ENST00000349780.4 Splice_Site SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP MSANTD4 84437 broad.mit.edu 37 11 105880756 105880756 + Missense_Mutation SNP G G C TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr11:105880756G>C ENST00000301919.4 - 3.0 1959 c.544C>G c.(544-546)Cac>Gac p.H182D NM_032424.1 NP_115800.1 Q8NCY6 MSD4_HUMAN Myb/SANT-like DNA-binding domain containing 4 with coiled-coils 182.0 nucleus (GO:0005634) TCATCAATGTGGGGGAAATCG 0.393 0 104.0 110.0 108.0 11 105880756.0 2201.0 4299.0 6500.0 SO:0001583 missense AB058729 CCDS31663.1 11q22 2012-03-13 2012-03-13 2012-03-13 ENSG00000170903 ENSG00000170903 84437.0 84437.0 29383.0 protein-coding gene gene with protein product """KIAA1826""" KIAA1826 Standard NM_032424 XM_005271697 Approved uc001piz.3 Q8NCY6 OTTHUMG00000166240 ENST00000301919.4:c.544C>G 11.__UNKNOWN__:g.105880756G>C ENSP00000304713:p.His182Asp Q96JK1|Q96JZ3|Q9H2N4 __UNKNOWN__ CCDS31663.1 . . . . . . . . . . G 11.81 1.749385 0.30955 . . ENSG00000170903 ENST00000301919;ENST00000530788 . . . 5.78 5.78 0.91487 . 0.244007 0.41823 D 0.000820 T 0.51856 0.1699 L 0.47716 1.5 0.39305 D 0.964974 B 0.31655 0.334 B 0.29176 0.099 T 0.56908 -0.7901 9 0.62326 D 0.03 -14.4826 14.8043 0.69942 0.0:0.0:0.8559:0.1441 . 182 Q8NCY6 K1826_HUMAN D 182 . ENSP00000304713:H182D H - 1 0 KIAA1826 105385966 1.000000 0.71417 1.000000 0.80357 0.303000 0.27691 5.679000 0.68160 2.734000 0.93682 0.491000 0.48974 CAC MSANTD4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000388619.1 - ENST00000301919.4 Missense_Mutation SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP ZFHX3 463 broad.mit.edu 37 16 72829565 72829565 + Missense_Mutation SNP C C T TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr16:72829565C>T ENST00000268489.5 - 9.0 7688 c.7016G>A c.(7015-7017)cGc>cAc p.R2339H ZFHX3_ENST00000397992.5_Missense_Mutation_p.R1425H NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2339.0 brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270) 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) 153.0 Ovarian(137;0.13) ATCAAAGATGCGCTGAAACAC 0.473 0 157.0 144.0 148.0 16 72829565.0 2198.0 4300.0 6498.0 SO:0001583 missense D10250 CCDS10908.1, CCDS54035.1 16q22.3 2012-03-09 2007-08-09 2007-08-09 ENSG00000140836 ENSG00000140836 463.0 463.0 """Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class""" 777.0 protein-coding gene gene with protein product 104155.0 """AT-binding transcription factor 1""" ATBF1 1719379, 7592926 Standard NM_006885 NM_006885 Approved ZNF927 uc002fck.3 Q15911 OTTHUMG00000137599 ENST00000268489.5:c.7016G>A 16.__UNKNOWN__:g.72829565C>T ENSP00000268489:p.Arg2339His D3DWS8|O15101|Q13719 __UNKNOWN__ CCDS10908.1 . . . . . . . . . . C 19.10 3.762430 0.69763 . . ENSG00000140836 ENST00000268489;ENST00000397992 T;T 0.80566 1.57;-1.39 5.65 5.65 0.86999 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1); 0.000000 0.50627 D 0.000101 D 0.89942 0.6861 M 0.74546 2.27 0.80722 D 1 D 0.89917 1.0 D 0.80764 0.994 D 0.90315 0.4340 10 0.72032 D 0.01 . 19.722 0.96147 0.0:1.0:0.0:0.0 . 2339 Q15911 ZFHX3_HUMAN H 2339;1425 ENSP00000268489:R2339H;ENSP00000438926:R1425H ENSP00000268489:R2339H R - 2 0 ZFHX3 71387066 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.818000 0.86416 2.657000 0.90304 0.561000 0.74099 CGC ZFHX3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269008.1 - ENST00000268489.5 Missense_Mutation SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP CUL9 23113 broad.mit.edu 37 6 43167852 43167852 + Silent SNP C C T TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr6:43167852C>T ENST00000372647.2 + 14.0 3416 c.3342C>T c.(3340-3342)ctC>ctT p.L1114L CUL9_ENST00000252050.4_Silent_p.L1114L|CUL9_ENST00000354495.3_Silent_p.L1004L Q8IWT3 CUL9_HUMAN cullin 9 1114.0 microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511) cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737) ATP binding (GO:0005524)|zinc ion binding (GO:0008270) 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) 92.0 ACGCACAGCTCTATAGCAACC 0.567 0 64.0 55.0 58.0 6 43167852.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB014608 CCDS4890.1 6p21.1 2011-05-24 ENSG00000112659 ENSG00000112659 23113.0 23113.0 15982.0 protein-coding gene gene with protein product """parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein""" 607489.0 17332328, 10521492, 12526791 Standard NM_015089 NM_015089 Approved H7AP1, KIAA0708, PARC uc003ouk.3 Q8IWT3 OTTHUMG00000014723 ENST00000372647.2:c.3342C>T 6.__UNKNOWN__:g.43167852C>T O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56 __UNKNOWN__ CUL9-005 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000358329.1 + ENST00000372647.2 Silent SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP SCN8A 6334 broad.mit.edu 37 12 52145212 52145212 + Silent SNP C C T TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr12:52145212C>T ENST00000354534.6 + 14.0 2383 c.2205C>T c.(2203-2205)tgC>tgT p.C735C SCN8A_ENST00000545061.1_Silent_p.C735C|SCN8A_ENST00000550891.1_Silent_p.C735C NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 735.0 adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018) ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248) 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) 55.0 BRCA - Breast invasive adenocarcinoma(357;0.181) Valproic Acid(DB00313) TCTGGGAGTGCCACCCCTACT 0.443 0 196.0 183.0 187.0 12 52145212.0 1927.0 4142.0 6069.0 SO:0001819 synonymous_variant AB027567 CCDS44891.1, CCDS53794.1 12q13.1 2012-02-26 2007-01-23 ENSG00000196876 6334.0 6334.0 """Sodium channels"", ""Voltage-gated ion channels / Sodium channels""" 10596.0 protein-coding gene gene with protein product 600702.0 """sodium channel, voltage gated, type VIII, alpha polypeptide""" MED 7670495, 9828131, 16382098 Standard NM_014191 NM_014191 Approved Nav1.6, NaCh6, PN4, CerIII uc001ryw.4 Q9UQD0 ENST00000354534.6:c.2205C>T 12.__UNKNOWN__:g.52145212C>T B9VWG8|O95788|Q9NYX2|Q9UPB2 __UNKNOWN__ CCDS44891.1 SCN8A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404372.3 + ENST00000354534.6 Silent SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP ACADM 34 broad.mit.edu 37 1 76200505 76200505 + Missense_Mutation SNP T T A TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr1:76200505T>A ENST00000370834.5 + 7.0 595 c.516T>A c.(514-516)gaT>gaA p.D172E ACADM_ENST00000541113.1_Missense_Mutation_p.D103E|ACADM_ENST00000370841.4_Missense_Mutation_p.D139E|ACADM_ENST00000420607.2_Missense_Mutation_p.D143E|ACADM_ENST00000543667.1_Intron P11310 ACADM_HUMAN acyl-CoA dehydrogenase, C-4 to C-12 straight chain 139.0 cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281) axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991) breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 18.0 Flavin adenine dinucleotide(DB03147) CTGGAAATGATCAACAAAAGA 0.333 0 94.0 89.0 91.0 1 76200505.0 2203.0 4300.0 6503.0 SO:0001583 missense M16827 CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1 1p31 2014-09-17 2010-04-30 ENSG00000117054 ENSG00000117054 34.0 34.0 1.3.99.3 89.0 protein-coding gene gene with protein product 607008.0 """acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain""" 3035565 Standard NM_000016 Approved MCAD, MCADH, ACAD1 uc009wbp.3 P11310 OTTHUMG00000009784 ENST00000370834.5:c.516T>A 1.__UNKNOWN__:g.76200505T>A ENSP00000359871:p.Asp172Glu Q5T4U4|Q9NYF1 __UNKNOWN__ . . . . . . . . . . T 1.522 -0.546606 0.04024 . . ENSG00000117054 ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607 D;D;D;D 0.98474 -4.95;-4.95;-4.95;-4.95 5.63 -5.35 0.02697 Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1); 0.416073 0.29745 N 0.011305 T 0.76997 0.4066 N 0.03881 -0.34 0.49915 D 0.999839 B;B;B;B;B 0.02656 0.0;0.0;0.0;0.0;0.0 B;B;B;B;B 0.09377 0.0;0.0;0.004;0.0;0.0 T 0.69146 -0.5222 10 0.02654 T 1 . 1.9594 0.03383 0.1552:0.2015:0.3643:0.2789 . 103;53;172;143;139 B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310 .;.;.;.;ACADM_HUMAN E 139;172;103;143 ENSP00000359878:D139E;ENSP00000359871:D172E;ENSP00000442324:D103E;ENSP00000409612:D143E ENSP00000359871:D172E D + 3 2 ACADM 75973093 0.002000 0.14202 0.696000 0.30242 0.523000 0.34469 -1.080000 0.03407 -1.264000 0.02452 -1.255000 0.01485 GAT ACADM-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000026968.2 + ENST00000370834.5 Missense_Mutation SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP GGT5 2687 broad.mit.edu 37 22 24628063 24628063 + Missense_Mutation SNP G G T TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr22:24628063G>T ENST00000398292.3 - 5.0 1043 c.710C>A c.(709-711)aCg>aAg p.T237K GGT5_ENST00000327365.4_Missense_Mutation_p.T237K|GGT5_ENST00000418439.2_Missense_Mutation_p.T160K|GGT5_ENST00000263112.7_Missense_Mutation_p.T205K P36269 GGT5_HUMAN gamma-glutamyltransferase 5 237.0 arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281) anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28.0 CAGCCTCCCCGTGTAGAAGAC 0.632 0 54.0 45.0 48.0 22 24628063.0 2203.0 4300.0 6503.0 SO:0001583 missense M64099 CCDS13825.1, CCDS42989.1, CCDS42990.1 22q11.23 2008-03-25 2008-03-10 2008-03-10 ENSG00000099998 ENSG00000099998 2687.0 2687.0 """Gamma-glutamyltransferases""" 4260.0 protein-coding gene gene with protein product 137168.0 """gamma-glutamyltransferase-like activity 1""" GGTLA1 1676842, 8095916, 18357469 Standard NM_004121 NM_004121 Approved GGT-REL uc002zzp.4 P36269 OTTHUMG00000150796 ENST00000398292.3:c.710C>A 22.__UNKNOWN__:g.24628063G>T ENSP00000381340:p.Thr237Lys Q53XM9|Q6GMP0|Q96FC1|Q9UFM5 __UNKNOWN__ CCDS42990.1 . . . . . . . . . . G 14.61 2.587144 0.46110 . . ENSG00000099998 ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439 T;T;T;T 0.21361 2.01;2.01;2.01;2.01 4.73 2.24 0.28232 . 0.382480 0.28510 N 0.015083 T 0.28067 0.0692 L 0.42686 1.345 0.09310 N 1 D;P;P;B;P 0.60160 0.987;0.612;0.913;0.408;0.913 P;B;P;B;P 0.62298 0.9;0.365;0.787;0.148;0.787 T 0.10337 -1.0634 10 0.13853 T 0.58 -8.3817 9.973 0.41765 0.0:0.0:0.4564:0.5436 . 160;205;237;237;237 E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269 .;.;.;.;GGT5_HUMAN K 237;205;152;237;160 ENSP00000330080:T237K;ENSP00000263112:T205K;ENSP00000381340:T237K;ENSP00000392146:T160K ENSP00000263112:T205K T - 2 0 GGT5 22958063 0.049000 0.20398 0.570000 0.28473 0.607000 0.37147 0.194000 0.17135 1.096000 0.41439 0.485000 0.47835 ACG GGT5-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000320121.1 - ENST00000398292.3 Missense_Mutation SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP XPOT 11260 broad.mit.edu 37 12 64818384 64818384 + Silent SNP A A G TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr12:64818384A>G ENST00000332707.5 + 12.0 1717 c.1188A>G c.(1186-1188)gaA>gaG p.E396E NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 396.0 intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) tRNA binding (GO:0000049) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45.0 GBM - Glioblastoma multiforme(28;0.0404) CATAGGGTGAAGATGAAGCCA 0.418 0 101.0 98.0 99.0 12 64818384.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF039022 CCDS31852.1 12q14.1 2012-10-17 2012-10-17 ENSG00000184575 ENSG00000184575 11260.0 11260.0 """Exportins""" 12826.0 protein-coding gene gene with protein product 603180.0 """exportin, tRNA (nuclear export receptor for tRNAs)""" 9660920, 9512417 Standard NM_007235 NM_007235 Approved XPO3 uc001ssb.3 O43592 OTTHUMG00000168794 ENST00000332707.5:c.1188A>G 12.__UNKNOWN__:g.64818384A>G A6NLH1|O43784|Q8WUG2|Q9BVS7 __UNKNOWN__ CCDS31852.1 XPOT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401122.1 + ENST00000332707.5 Silent SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP NEK5 341676 bcgsc.ca 37 13 52673975 52673975 + Silent SNP G G A TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr13:52673975G>A ENST00000355568.4 - 12.0 1069 c.930C>T c.(928-930)tgC>tgT p.C310C NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 310.0 positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674) 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) 39.0 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) ATCTTGGTGGGCACTTTCCCT 0.358 0 167.0 150.0 155.0 13 52673975.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC063885 CCDS31979.1 13q14.2 2012-11-15 2012-11-15 ENSG00000197168 ENSG00000197168 341676.0 341676.0 7748.0 protein-coding gene gene with protein product """NIMA (never in mitosis gene a)-related kinase 5""" 9552363 Standard NM_199289 XM_006719807 Approved uc001vge.3 Q6P3R8 OTTHUMG00000016957 ENST00000355568.4:c.930C>T 13.__UNKNOWN__:g.52673975G>A Q5TAP5 __UNKNOWN__ CCDS31979.1 NEK5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045045.3 - ENST00000355568.4 Silent SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP Unknown 390650 bcgsc.ca 37 15 102369129 102369129 + RNA SNP G G C TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr15:102369129G>C OR4F15 (9779 upstream) : OR4F13P (13192 downstream) TGTATTTTCTGTTAGCCAACC 0.453 0 SO:0001628 intergenic_variant 15.__UNKNOWN__:g.102369129G>C __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP F10 2159 ucsc.edu 37 13 113801715 113801715 + Missense_Mutation SNP A A C TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr13:113801715A>C ENST00000375551.3 + 7.0 812 c.770A>C c.(769-771)aAc>aCc p.N257T F10_ENST00000409306.1_Missense_Mutation_p.N257T|F10_ENST00000375559.3_Missense_Mutation_p.N257T P00742 FA10_HUMAN coagulation factor X 257.0 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252) endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18.0 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_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) Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228) AATGAGGAAAACGAGGGTTTC 0.542 0 122.0 93.0 103.0 13 113801715.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS9530.1 13q34 2012-10-02 ENSG00000126218 ENSG00000126218 2159.0 2159.0 3.4.21.6 3528.0 protein-coding gene gene with protein product 613872 Standard XM_005268298 Approved uc001vsx.3 P00742 OTTHUMG00000017374 ENST00000375551.3:c.770A>C 13.__UNKNOWN__:g.113801715A>C ENSP00000364701:p.Asn257Thr Q14340 __UNKNOWN__ . . . . . . . . . . A 6.940 0.543294 0.13250 . . ENSG00000126218 ENST00000409306;ENST00000375551;ENST00000375559 D;D;D 0.88741 -2.42;-2.42;-2.42 4.95 3.74 0.42951 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 0.522107 0.20921 N 0.083267 T 0.81054 0.4743 L 0.33710 1.025 0.20196 N 0.999922 P;P;B 0.34997 0.479;0.479;0.004 B;B;B 0.38921 0.285;0.285;0.033 T 0.66575 -0.5889 10 0.14656 T 0.56 . 6.0837 0.19954 0.7424:0.1655:0.0921:0.0 . 257;257;257 B7ZBK1;Q5JVE8;P00742 .;.;FA10_HUMAN T 257 ENSP00000387092:N257T;ENSP00000364701:N257T;ENSP00000364709:N257T ENSP00000364701:N257T N + 2 0 F10 112849716 0.001000 0.12720 0.013000 0.15412 0.049000 0.14656 1.396000 0.34531 0.703000 0.31848 0.402000 0.26972 AAC F10-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000045842.1 + ENST00000375551.3 Missense_Mutation SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP SYNE1 23345 hgsc.bcm.edu 37 6 152831392 152831392 + Missense_Mutation SNP T T C TCGA-RW-A685-01A-11D-A35D-08 TCGA-RW-A685-10A-01D-A35B-08 T T . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 26b200cb-3d8c-40f5-9071-0ace6b35150f 04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a g.chr6:152831392T>C ENST00000367255.5 - 8.0 1118 c.517A>G c.(517-519)Acc>Gcc p.T173A SYNE1_ENST00000367253.4_Missense_Mutation_p.T173A|SYNE1_ENST00000413186.2_Missense_Mutation_p.T173A|SYNE1_ENST00000466159.2_Missense_Mutation_p.T173A|SYNE1_ENST00000448038.1_Missense_Mutation_p.T180A|SYNE1_ENST00000265368.4_Missense_Mutation_p.T173A|SYNE1_ENST00000341594.5_Missense_Mutation_p.T173A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T180A|SYNE1_ENST00000367248.3_Missense_Mutation_p.T180A NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 173.0 Actin-binding. cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993) actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) 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) 524.0 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATCTTGGTGGTCACCTTCCGT 0.483 HNSCC(10;0.0054) 0 207.0 188.0 194.0 6 152831392.0 2203.0 4300.0 6503.0 SO:0001583 missense AB018339 CCDS5235.1, CCDS5236.1, CCDS5236.2 6q24.2-q25.3 2014-09-17 ENSG00000131018 ENSG00000131018 23345.0 23345.0 17089.0 protein-coding gene gene with protein product """myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1""" 608441 """chromosome 6 open reading frame 98""" C6orf98 9872452, 10878022 Standard NM_182961 NM_182961 Approved SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1 uc003qou.4 Q8NF91 OTTHUMG00000015841 ENST00000367255.5:c.517A>G 6.__UNKNOWN__:g.152831392T>C ENSP00000356224:p.Thr173Ala E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8 __UNKNOWN__ CCDS5236.2 . . . . . . . . . . T 3.153 -0.173817 0.06421 . . ENSG00000131018 ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750 D;D;D;D;D;D;D;D;D;D 0.95238 -3.65;-3.65;-3.65;-3.65;-3.65;-3.65;-3.65;-3.65;-3.65;-3.65 5.52 3.69 0.42338 Calponin homology domain (1); 0.475237 0.19592 N 0.110581 T 0.79464 0.4450 L 0.31845 0.965 0.80722 D 1 B;B;B;B;B 0.02656 0.0;0.0;0.0;0.0;0.0 B;B;B;B;B 0.04013 0.0;0.0;0.001;0.0;0.001 T 0.70128 -0.4957 10 0.02654 T 1 . 10.5065 0.44836 0.0:0.7922:0.1341:0.0738 . 173;173;173;173;180 B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4 .;SYNE1_HUMAN;.;.;. A 173;180;173;180;173;173;180;173;173;173 ENSP00000356224:T173A;ENSP00000396024:T180A;ENSP00000265368:T173A;ENSP00000390975:T180A;ENSP00000341887:T173A;ENSP00000356222:T173A;ENSP00000356217:T180A;ENSP00000414510:T173A;ENSP00000446021:T173A;ENSP00000441264:T173A ENSP00000265368:T173A T - 1 0 SYNE1 152873085 0.906000 0.30813 1.000000 0.80357 0.922000 0.55478 1.023000 0.30065 0.648000 0.30732 -0.261000 0.10672 ACC SYNE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000334755.2 - ENST00000367255.5 Missense_Mutation SNP PCPG-TCGA-RW-A685-Normal-SM-5EQGP PRKD1 5587 broad.mit.edu 37 14 30047543 30047543 + Silent SNP G G A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr14:30047543G>A ENST00000331968.5 - 17.0 2687 c.2458C>T c.(2458-2460)Ctg>Ttg p.L820L PRKD1_ENST00000415220.2_Silent_p.L828L NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 820.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010) cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78.0 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TTTACTTGCAGCAAATTGTTG 0.333 0 75.0 73.0 74.0 14 30047543.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS9637.1 14q11 2013-01-10 2004-10-28 2004-10-30 ENSG00000184304 ENSG00000184304 5587.0 5587.0 2.7.11.1 """Pleckstrin homology (PH) domain containing""" 9407.0 protein-coding gene gene with protein product 605435.0 """protein kinase C, mu""" PRKCM 8119958, 10965134 Standard NM_002742 NM_002742 Approved PKCM, PKD, PKC-mu uc001wqh.3 Q15139 OTTHUMG00000140203 ENST00000331968.5:c.2458C>T 14.__UNKNOWN__:g.30047543G>A A6NL64|B2RAF6 __UNKNOWN__ CCDS9637.1 PRKD1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000276611.2 - ENST00000331968.5 Silent SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 NCAPD3 23310 broad.mit.edu 37 11 134029868 134029868 + Silent SNP C C T TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr11:134029868C>T ENST00000534548.2 - 29.0 3850 c.3786G>A c.(3784-3786)caG>caA p.Q1262Q NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1262.0 mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076) germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654) methylated histone binding (GO:0035064) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71.0 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CCTGGACCAGCTGTTCCTGGT 0.552 0 144.0 117.0 127.0 11 134029868.0 2201.0 4297.0 6498.0 SO:0001819 synonymous_variant AK124878 CCDS31723.1 11q25 2008-02-04 ENSG00000151503 ENSG00000151503 23310.0 23310.0 28952.0 protein-coding gene gene with protein product 609276.0 7584044, 8619474, 14532007 Standard NM_015261 NM_015261 Approved hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6 uc001qhd.1 P42695 OTTHUMG00000167172 ENST00000534548.2:c.3786G>A 11.__UNKNOWN__:g.134029868C>T A6NFS2|Q4KMQ9 __UNKNOWN__ CCDS31723.1 NCAPD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393575.2 - ENST00000534548.2 Silent SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 MYH15 22989 broad.mit.edu 37 3 108147534 108147534 + Missense_Mutation SNP G G T TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr3:108147534G>T ENST00000273353.3 - 28.0 3623 c.3567C>A c.(3565-3567)gaC>gaA p.D1189E NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1189.0 cytoplasm (GO:0005737)|myosin filament (GO:0032982) ATP binding (GO:0005524)|motor activity (GO:0003774) NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105.0 CCTCTTCCATGTCTCGGTGCA 0.493 0 134.0 130.0 131.0 3 108147534.0 1962.0 4159.0 6121.0 SO:0001583 missense AB023217 CCDS43127.1 3q13 2011-09-27 2006-09-29 ENSG00000144821 ENSG00000144821 22989.0 22989.0 """Myosins / Myosin superfamily : Class II""" 31073.0 protein-coding gene gene with protein product 609929.0 """myosin, heavy polypeptide 15""" 15014174, 15042088 Standard XM_036988 NM_014981 Approved KIAA1000 uc003dxa.1 Q9Y2K3 OTTHUMG00000159226 ENST00000273353.3:c.3567C>A 3.__UNKNOWN__:g.108147534G>T ENSP00000273353:p.Asp1189Glu __UNKNOWN__ CCDS43127.1 . . . . . . . . . . G 6.170 0.399496 0.11696 . . ENSG00000144821 ENST00000273353 D 0.82619 -1.63 4.95 -1.95 0.07548 Myosin tail (1); . . . . T 0.74535 0.3729 L 0.49513 1.565 0.40108 D 0.976456 B 0.21606 0.058 B 0.30495 0.116 T 0.60010 -0.7346 9 0.38643 T 0.18 . 4.4305 0.11525 0.4506:0.0:0.3019:0.2475 . 1189 Q9Y2K3 MYH15_HUMAN E 1189 ENSP00000273353:D1189E ENSP00000273353:D1189E D - 3 2 MYH15 109630224 0.999000 0.42202 0.000000 0.03702 0.041000 0.13682 0.668000 0.25127 -0.368000 0.08040 -0.145000 0.13849 GAC MYH15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353935.1 - ENST00000273353.3 Missense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 FLG2 388698 broad.mit.edu 37 1 152325696 152325696 + Silent SNP G G A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr1:152325696G>A ENST00000388718.5 - 3.0 4638 c.4566C>T c.(4564-4566)caC>caT p.H1522H FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1522.0 establishment of skin barrier (GO:0061436) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198) 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) 188.0 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CACTTTGGCCGTGAGTGTGTC 0.498 0 SO:0001819 synonymous_variant AY827490 CCDS30861.1 1q21.3 2013-01-10 ENSG00000143520 ENSG00000143520 388698.0 388698.0 """EF-hand domain containing""" 33276.0 protein-coding gene gene with protein product 12477932 Standard NM_001014342 NM_001014342 Approved IFPS uc001ezw.4 Q5D862 OTTHUMG00000012245 ENST00000388718.5:c.4566C>T 1.__UNKNOWN__:g.152325696G>A Q9H4U1 __UNKNOWN__ CCDS30861.1 FLG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000034018.5 - ENST00000388718.5 Silent SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 IGHG2 0 broad.mit.edu 37 14 106109985 106109985 + RNA SNP G G A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr14:106109985G>A ENST00000390545.2 - 0.0 632 P01859 IGHG2_HUMAN immunoglobulin heavy constant gamma 2 (G2m marker) complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) antigen binding (GO:0003823) TGGTTTTCTCGATGGGGGCTG 0.627 0 184.0 183.0 183.0 14 106109985.0 2023.0 4181.0 6204.0 J00230 14q32.33 2012-10-02 ENSG00000211893 ENSG00000211893 3501.0 3501.0 """Immunoglobulins / IGH locus""" 5526.0 other immunoglobulin gene 147110.0 Standard NG_001019 NG_001019 Approved P01859 OTTHUMG00000152482 ENST00000390545.2: 14.__UNKNOWN__:g.106109985G>A A6NE66 __UNKNOWN__ IGHG2-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal IG_C_gene IG_C_gene OTTHUMT00000326391.1 - ENST00000390545.2 RNA SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 OTOP1 133060 broad.mit.edu 37 4 4199407 4199407 + Missense_Mutation SNP G G A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr4:4199407G>A ENST00000296358.4 - 5.0 1178 c.1154C>T c.(1153-1155)cCg>cTg p.P385L NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 385.0 biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472) extracellular region (GO:0005576)|integral component of membrane (GO:0016021) 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) 34.0 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TTTGCGGGCCGGATTTTTGGA 0.587 0 44.0 50.0 48.0 4 4199407.0 2203.0 4300.0 6503.0 SO:0001583 missense BK000653 CCDS3372.1 4p16.2 2008-02-05 ENSG00000163982 ENSG00000163982 133060.0 133060.0 19656.0 protein-coding gene gene with protein product 607806.0 12651873 Standard NM_177998 NM_177998 Approved uc003ghp.1 Q7RTM1 OTTHUMG00000090301 ENST00000296358.4:c.1154C>T 4.__UNKNOWN__:g.4199407G>A ENSP00000296358:p.Pro385Leu A1L476 __UNKNOWN__ CCDS3372.1 . . . . . . . . . . G 16.56 3.157928 0.57368 . . ENSG00000163982 ENST00000296358 T 0.21361 2.01 4.9 4.9 0.64082 . 0.286130 0.39341 N 0.001392 T 0.52075 0.1712 M 0.82716 2.605 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.59825 -0.7381 10 0.87932 D 0 -0.9908 18.4591 0.90732 0.0:0.0:1.0:0.0 . 385 Q7RTM1 OTOP1_HUMAN L 385 ENSP00000296358:P385L ENSP00000296358:P385L P - 2 0 OTOP1 4250308 1.000000 0.71417 0.962000 0.40283 0.009000 0.06853 8.967000 0.93402 2.435000 0.82474 0.404000 0.27445 CCG OTOP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000206661.2 - ENST00000296358.4 Missense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 GATAD2B 57459 broad.mit.edu 37 1 153800617 153800617 + Silent SNP G G A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr1:153800617G>A ENST00000368655.4 - 2.0 450 c.207C>T c.(205-207)ggC>ggT p.G69G NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 69.0 ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351) nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38.0 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGACACCACTGCCATCCTGTT 0.478 0 218.0 185.0 196.0 1 153800617.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF411836 CCDS1054.1 1q21.3 2013-01-25 ENSG00000143614 ENSG00000143614 57459.0 57459.0 """GATA zinc finger domain containing""" 30778.0 protein-coding gene gene with protein product """transcription repressor p66 beta component of the MeCP1 complex""" 614998.0 10574461, 11756549 Standard NM_020699 NM_020699 Approved P66beta uc001fdb.4 Q8WXI9 OTTHUMG00000037162 ENST00000368655.4:c.207C>T 1.__UNKNOWN__:g.153800617G>A D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0 __UNKNOWN__ CCDS1054.1 GATAD2B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090305.1 - ENST00000368655.4 Silent SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 ABCA12 26154 broad.mit.edu 37 2 215910616 215910616 + Missense_Mutation SNP A A T TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr2:215910616A>T ENST00000272895.7 - 7.0 1036 c.817T>A c.(817-819)Ttt>Att p.F273I NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 273.0 cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129) cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886) apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102) 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) 139.0 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) TCATTCTGAAACACATTTGGA 0.358 Ovarian(66;664 1488 5121 34295) 0 89.0 92.0 91.0 2 215910616.0 2202.0 4300.0 6502.0 SO:0001583 missense AF418105 CCDS33372.1, CCDS33373.1 2q34 2012-03-14 ENSG00000144452 ENSG00000144452 26154.0 26154.0 """ATP binding cassette transporters / subfamily A""" 14637.0 protein-coding gene gene with protein product 607800.0 """ichthyosis congenita II, lamellar ichthyosis B""" ICR2B 11435397, 12915478, 8845852, 10094194 Standard NM_173076 NM_015657 Approved DKFZP434G232, LI2 uc002vew.3 Q86UK0 OTTHUMG00000154801 ENST00000272895.7:c.817T>A 2.__UNKNOWN__:g.215910616A>T ENSP00000272895:p.Phe273Ile Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5 __UNKNOWN__ CCDS33372.1 . . . . . . . . . . A 16.25 3.069774 0.55539 . . ENSG00000144452 ENST00000272895 T 0.23552 1.9 5.62 4.47 0.54385 . 0.088909 0.49305 D 0.000145 T 0.16300 0.0392 L 0.27053 0.805 0.80722 D 1 B 0.24258 0.1 B 0.15484 0.013 T 0.06023 -1.0850 10 0.35671 T 0.21 . 8.4528 0.32882 0.9117:0.0:0.0883:0.0 . 273 Q86UK0 ABCAC_HUMAN I 273 ENSP00000272895:F273I ENSP00000272895:F273I F - 1 0 ABCA12 215618861 0.997000 0.39634 0.997000 0.53966 0.988000 0.76386 1.043000 0.30316 1.082000 0.41137 0.477000 0.44152 TTT ABCA12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337111.1 - ENST00000272895.7 Missense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 MUC5B 727897 broad.mit.edu 37 11 1263681 1263681 + Nonsense_Mutation SNP C C A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr11:1263681C>A ENST00000529681.1 + 31.0 5629 c.5571C>A c.(5569-5571)tgC>tgA p.C1857* RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Nonsense_Mutation_p.C1860* NM_002458.2 NP_002449.2 Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1857.0 7 X Cys-rich subdomain repeats.|Thr-rich. cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137.0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGCTGACCTGCAAGAACGAAG 0.592 0 55.0 73.0 67.0 11 1263681.0 2184.0 4272.0 6456.0 SO:0001587 stop_gained U95031, AF086604 CCDS44515.1, CCDS44515.2 11p15.5 2007-01-19 2006-03-14 ENSG00000117983 727897.0 727897.0 """Mucins""" 7516.0 protein-coding gene gene with protein product 600770.0 """mucin 5, subtype B, tracheobronchial""" MUC5 9804771 Standard XM_001126093 NM_002458 Approved MG1 uc001lta.3 Q9HC84 ENST00000529681.1:c.5571C>A 11.__UNKNOWN__:g.1263681C>A ENSP00000436812:p.Cys1857* O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28 __UNKNOWN__ CCDS44515.2 . . . . . . . . . . C 44 11.112106 0.99517 . . ENSG00000117983 ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844 . . . 4.64 2.74 0.32292 . . . . . . . . . . . 0.80722 A 1 . . . . . . . . . . 0.87932 D 0 . 8.6687 0.34137 0.0:0.7589:0.0:0.2411 . . . . X 1857;1860;1858;1927 . ENSP00000343037:C1858X C + 3 2 MUC5B 1220257 0.003000 0.15002 0.021000 0.16686 0.027000 0.11550 0.030000 0.13688 0.395000 0.25257 0.306000 0.20318 TGC MUC5B-002 NOVEL basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000390041.2 + ENST00000529681.1 Nonsense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 SPTB 6710 broad.mit.edu 37 14 65237698 65237698 + Silent SNP G G A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr14:65237698G>A ENST00000556626.1 - 27.0 5845 c.5703C>T c.(5701-5703)gaC>gaT p.D1901D SPTB_ENST00000542895.1_Silent_p.D1901D|SPTB_ENST00000389720.3_Silent_p.D1901D|SPTB_ENST00000389722.3_Silent_p.D1901D|SPTB_ENST00000389721.5_Silent_p.D1901D P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1901.0 actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779) actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200) 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) 106.0 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) TATCCGCCGTGTCCACTAGCT 0.642 0 58.0 59.0 59.0 14 65237698.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS32099.1, CCDS32100.1 14q24.1-q24.2 2013-01-10 2008-07-29 ENSG00000070182 6710.0 6710.0 """Pleckstrin homology (PH) domain containing""" 11274.0 protein-coding gene gene with protein product """spherocytosis, clinical type I""" 182870.0 2209094 Standard NM_001024858 Approved uc001xhr.3 P11277 ENST00000556626.1:c.5703C>T 14.__UNKNOWN__:g.65237698G>A Q15510|Q15519 __UNKNOWN__ CCDS32099.1 SPTB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000414076.1 - ENST00000556626.1 Silent SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 PKN2 5586 broad.mit.edu 37 1 89287648 89287648 + Silent SNP T T C TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr1:89287648T>C ENST00000370521.3 + 17.0 2663 c.2304T>C c.(2302-2304)ctT>ctC p.L768L PKN2_ENST00000544045.1_Silent_p.L442L|PKN2_ENST00000370513.5_Silent_p.L720L|PKN2_ENST00000370505.3_Silent_p.L611L NM_006256.2 NP_006247.1 Q16513 PKN2_HUMAN protein kinase N2 768.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351) apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634) ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674) breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1) 33.0 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) GTGTAGTTCTTGGGTTGCAGT 0.274 0 90.0 80.0 83.0 1 89287648.0 1782.0 4055.0 5837.0 SO:0001819 synonymous_variant U33052 CCDS714.1 1p22 2014-04-23 2004-07-01 2004-07-01 ENSG00000065243 ENSG00000065243 5586.0 5586.0 9406.0 protein-coding gene gene with protein product """cardiolipin-activated protein kinase Pak2""" 602549.0 """protein kinase C-like 2""" PRKCL2 7988719, 7851406 Standard NM_006256 NM_006256 Approved PRK2, Pak-2, STK7 uc001dmn.3 Q16513 OTTHUMG00000010074 ENST00000370521.3:c.2304T>C 1.__UNKNOWN__:g.89287648T>C B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4 __UNKNOWN__ CCDS714.1 PKN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000027828.3 + ENST00000370521.3 Silent SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 ST3GAL3 6487 broad.mit.edu 37 1 44201956 44201956 + Missense_Mutation SNP G G A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr1:44201956G>A ENST00000361392.4 + 2.0 200 c.23G>A c.(22-24)cGc>cAc p.R8H ST3GAL3_ENST00000531451.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000330208.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000545417.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531816.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361812.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372377.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372362.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.R8H|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R8H|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R8H|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R8H NM_001270459.1|NM_006279.3|NM_174964.2 NP_001257388.1|NP_006270.1|NP_777624.1 Q11203 SIAT6_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 3 8.0 carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281) extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173) beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1) 19.0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0518) GTATTTGTGCGCAATCTGCTG 0.413 0 289.0 270.0 276.0 1 44201956.0 2203.0 4300.0 6503.0 SO:0001583 missense L23768 CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1 1p34.1 2014-01-31 2005-02-07 2005-02-07 ENSG00000126091 ENSG00000126091 6487.0 6487.0 2.4.99.6 """Sialyltransferases""" 10866.0 protein-coding gene gene with protein product """ST3Gal III""" 606494.0 """sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12""" SIAT6, MRT12 8333853, 21907012 Standard NM_174963 NM_174963 Approved uc001cjz.4 Q11203 OTTHUMG00000007561 ENST00000361392.4:c.23G>A 1.__UNKNOWN__:g.44201956G>A ENSP00000355341:p.Arg8His A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58 __UNKNOWN__ CCDS492.1 . . . . . . . . . . G 21.8 4.205762 0.79127 . . ENSG00000126091 ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000545417;ENST00000330208;ENST00000335430;ENST00000372377;ENST00000347631;ENST00000361812;ENST00000372362;ENST00000531451;ENST00000372369;ENST00000361746;ENST00000372367;ENST00000372366;ENST00000372365;ENST00000372368;ENST00000372372;ENST00000528371;ENST00000531993;ENST00000533933;ENST00000332628;ENST00000531816 T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.80738 0.37;0.66;0.21;0.06;0.14;0.36;-0.38;-1.38;-1.39;0.02;-1.41;0.35;-1.38;-1.39;-1.36;0.02;0.21;-0.46;-0.4;-0.39;0.06;0.14;0.14;0.01;-0.38;0.36;-1.33 5.94 5.94 0.96194 . 0.272357 0.40728 N 0.001027 D 0.84392 0.5462 N 0.24115 0.695 0.53688 D 0.999978 D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D 0.89917 0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;1.0;1.0;0.999;0.999;0.999;0.999;0.998;1.0;0.999;0.998 D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D 0.83275 0.989;0.984;0.984;0.984;0.994;0.984;0.984;0.984;0.993;0.996;0.984;0.989;0.984;0.989;0.964;0.996;0.989;0.964 D 0.83927 0.0304 10 0.42905 T 0.14 . 19.977 0.97313 0.0:0.0:1.0:0.0 . 8;8;8;8;8;8;8;8;8;8;8;8;8;8;8;8;8;8 Q11203-22;Q11203-5;Q11203-21;Q11203-17;Q11203-24;Q11203-16;Q11203-23;Q11203-7;Q11203-12;Q5T4Y1;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q11203-18;Q5T4W8 .;.;.;.;.;.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.;. H 8 ENSP00000355341:R8H;ENSP00000354748:R8H;ENSP00000262915:R8H;ENSP00000361450:R8H;ENSP00000316999:R8H;ENSP00000361449:R8H;ENSP00000330463:R8H;ENSP00000439634:R8H;ENSP00000333494:R8H;ENSP00000335633:R8H;ENSP00000361452:R8H;ENSP00000317192:R8H;ENSP00000355201:R8H;ENSP00000361437:R8H;ENSP00000435603:R8H;ENSP00000361444:R8H;ENSP00000354657:R8H;ENSP00000361442:R8H;ENSP00000361441:R8H;ENSP00000361440:R8H;ENSP00000361443:R8H;ENSP00000361447:R8H;ENSP00000434876:R8H;ENSP00000432682:R8H;ENSP00000432965:R8H;ENSP00000329755:R8H;ENSP00000434378:R8H ENSP00000262915:R8H R + 2 0 ST3GAL3 43974543 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 6.891000 0.75639 2.814000 0.96858 0.563000 0.77884 CGC ST3GAL3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000019964.1 + ENST00000361392.4 Missense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 KRT82 3888 broad.mit.edu 37 12 52797571 52797571 + Silent SNP C C T TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr12:52797571C>T ENST00000257974.2 - 2.0 611 c.534G>A c.(532-534)cgG>cgA p.R178R NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 178.0 Coil 1B.|Rod. keratin filament (GO:0045095) structural constituent of epidermis (GO:0030280) endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29.0 BRCA - Breast invasive adenocarcinoma(357;0.193) AGTCCAGCTGCCGCCGAAGGG 0.592 0 60.0 63.0 62.0 12 52797571.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant Y19207 CCDS8826.1 12q13 2013-01-16 2006-07-17 2006-07-17 ENSG00000161850 3888.0 3888.0 """-"", ""Intermediate filaments type II, keratins (basic)""" 6459.0 protein-coding gene gene with protein product """hard keratin type II 2""" 601078.0 """keratin, hair, basic, 2""" KRTHB2 2431943, 16831889 Standard NM_033033 NM_033033 Approved Hb-2 uc001sai.1 Q9NSB4 OTTHUMG00000169636 ENST00000257974.2:c.534G>A 12.__UNKNOWN__:g.52797571C>T __UNKNOWN__ CCDS8826.1 KRT82-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405189.1 - ENST00000257974.2 Silent SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 ZFC3H1 196441 broad.mit.edu 37 12 72017892 72017892 + Missense_Mutation SNP T T C TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr12:72017892T>C ENST00000378743.3 - 23.0 4856 c.4498A>G c.(4498-4500)Att>Gtt p.I1500V NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1500.0 RNA processing (GO:0006396) extracellular space (GO:0005615)|intracellular (GO:0005622) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) 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) 69.0 ACCTGTAAAATTGCCAGTGCA 0.368 0 T VAL/ILE 1,3677 0,1,1838 157.0 148.0 151.0 4498 -4.2 0.8 12 151.0 0,8192 0,0,4096 no missense ZFC3H1 NM_144982.4 29 0,1,5934 CC,CT,TT 0.0,0.0272,0.0084 benign 1500/1990 72017892.0 1,11869 1839.0 4096.0 5935.0 SO:0001583 missense AB011118 CCDS41813.1 12q21.1 2013-01-25 2008-10-01 2008-10-01 ENSG00000133858 196441.0 196441.0 """Zinc finger, C3H1-type containing""" 28328.0 protein-coding gene gene with protein product """proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131""" PSRC2, CCDC131 9628581 Standard NM_144982 NM_144982 Approved MGC23401, KIAA0546 uc001swo.2 O60293 OTTHUMG00000169545 ENST00000378743.3:c.4498A>G 12.__UNKNOWN__:g.72017892T>C ENSP00000368017:p.Ile1500Val Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7 __UNKNOWN__ CCDS41813.1 . . . . . . . . . . T 10.34 1.324464 0.24080 2.72E-4 0.0 ENSG00000133858 ENST00000378743 T 0.35605 1.3 5.39 -4.21 0.03812 . 0.364292 0.27886 N 0.017449 T 0.15262 0.0368 L 0.27053 0.805 0.39614 D 0.969927 B 0.06786 0.001 B 0.04013 0.001 T 0.14172 -1.0482 10 0.14252 T 0.57 . 3.3968 0.07308 0.0869:0.2584:0.3509:0.3039 . 1500 O60293 ZC3H1_HUMAN V 1500 ENSP00000368017:I1500V ENSP00000368017:I1500V I - 1 0 ZFC3H1 70304159 0.438000 0.25602 0.834000 0.33040 0.876000 0.50452 0.072000 0.14617 -0.568000 0.06038 -0.290000 0.09829 ATT ZFC3H1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404751.1 - ENST00000378743.3 Missense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 ARHGEF15 22899 broad.mit.edu 37 17 8215731 8215731 + Missense_Mutation SNP G G C TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr17:8215731G>C ENST00000361926.3 + 2.0 484 c.374G>C c.(373-375)gGg>gCg p.G125A ARHGEF15_ENST00000421050.1_Missense_Mutation_p.G125A NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 125.0 Pro-rich. negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299) cytoplasm (GO:0005737)|dendrite (GO:0030425) GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37.0 AAGCCGTCTGGGTCACCCTGC 0.667 0 69.0 72.0 71.0 17 8215731.0 2203.0 4300.0 6503.0 SO:0001583 missense AB020722 CCDS11139.1 17p13.1 2011-11-16 ENSG00000198844 ENSG00000198844 22899.0 22899.0 """Rho guanine nucleotide exchange factors""" 15590.0 protein-coding gene gene with protein product """Rho guanine exchange factor (GEF) 15""" 608504.0 10048485 Standard NM_173728 NM_173728 Approved KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868 uc002glc.3 O94989 OTTHUMG00000108187 ENST00000361926.3:c.374G>C 17.__UNKNOWN__:g.8215731G>C ENSP00000355026:p.Gly125Ala A8K6G1|Q8N449|Q9H8B4 __UNKNOWN__ CCDS11139.1 . . . . . . . . . . G 6.004 0.369117 0.11352 . . ENSG00000198844 ENST00000361926;ENST00000421050 T;T 0.78003 -1.14;-1.14 5.02 2.86 0.33363 . 1.641420 0.03108 N 0.162149 T 0.66096 0.2755 L 0.27053 0.805 0.09310 N 1 B;B 0.06786 0.0;0.001 B;B 0.04013 0.001;0.001 T 0.50783 -0.8787 10 0.26408 T 0.33 -11.7184 5.3144 0.15847 0.1169:0.2404:0.6427:0.0 . 125;125 D3DTR7;O94989 .;ARHGF_HUMAN A 125 ENSP00000355026:G125A;ENSP00000412505:G125A ENSP00000355026:G125A G + 2 0 ARHGEF15 8156456 0.658000 0.27402 0.831000 0.32960 0.375000 0.29983 1.351000 0.34022 1.329000 0.45376 0.555000 0.69702 GGG ARHGEF15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000226993.2 + ENST00000361926.3 Missense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 GATA4 2626 broad.mit.edu 37 8 11606509 11606509 + Missense_Mutation SNP C C T TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr8:11606509C>T ENST00000335135.4 + 3.0 1256 c.698C>T c.(697-699)aCg>aTg p.T233M GATA4_ENST00000532059.1_Missense_Mutation_p.T234M|GATA4_ENST00000528712.1_Missense_Mutation_p.T27M NM_002052.3 NP_002043.2 P43694 GATA4_HUMAN GATA binding protein 4 233.0 atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281) nucleoplasm (GO:0005654)|nucleus (GO:0005634) activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270) p.T233M(1) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10) 13.0 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) CGAGATGGGACGGGTCACTAT 0.587 1 Substitution - Missense(1) large_intestine(1) 117.0 108.0 111.0 8 11606509.0 2203.0 4300.0 6503.0 SO:0001583 missense AK097060 CCDS5983.1 8p23.1-p22 2013-01-25 2001-11-28 ENSG00000136574 ENSG00000136574 2626.0 2626.0 """GATA zinc finger domain containing""" 4173.0 protein-coding gene gene with protein product 600576.0 """GATA-binding protein 4""" 7665171 Standard NM_002052 NM_002052 Approved uc003wuc.2 P43694 OTTHUMG00000090800 ENST00000335135.4:c.698C>T 8.__UNKNOWN__:g.11606509C>T ENSP00000334458:p.Thr233Met B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8 __UNKNOWN__ CCDS5983.1 . . . . . . . . . . C 31 5.101546 0.94245 . . ENSG00000136574 ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059 D;D;D;D 0.99494 -6.01;-6.01;-6.01;-6.01 5.61 5.61 0.85477 Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5); 0.000000 0.85682 D 0.000000 D 0.99221 0.9729 L 0.41492 1.28 0.80722 D 1 D;D 0.89917 0.999;1.0 D;D 0.81914 0.995;0.99 D 0.99892 1.1138 10 0.87932 D 0 -23.4441 18.9896 0.92786 0.0:1.0:0.0:0.0 . 234;233 B7ZKZ4;P43694 .;GATA4_HUMAN M 27;27;233;232;234 ENSP00000435043:T27M;ENSP00000435347:T27M;ENSP00000334458:T233M;ENSP00000435712:T234M ENSP00000259090:T232M T + 2 0 GATA4 11643918 1.000000 0.71417 0.986000 0.45419 0.969000 0.65631 7.546000 0.82137 2.793000 0.96121 0.655000 0.94253 ACG GATA4-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000207587.2 + ENST00000335135.4 Missense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 GLB1L3 112937 broad.mit.edu 37 11 134183876 134183876 + Missense_Mutation SNP G G T TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr11:134183876G>T ENST00000431683.2 + 17.0 1621 c.1621G>T c.(1621-1623)Ggc>Tgc p.G541C NM_001080407.2 NP_001073876.2 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 541.0 carbohydrate metabolic process (GO:0005975) beta-galactosidase activity (GO:0004565) endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13.0 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) TTCCCTGGAGGGCTTTACCAT 0.488 0 83.0 78.0 80.0 11 134183876.0 1898.0 4125.0 6023.0 SO:0001583 missense CCDS44780.1 11q25 2008-11-06 2008-01-29 ENSG00000166105 ENSG00000166105 112937.0 112937.0 25147.0 protein-coding gene gene with protein product 12477932 Standard NM_138416 NM_001080407 Approved FLJ90231 uc009zdf.3 Q8NCI6 OTTHUMG00000133524 ENST00000431683.2:c.1621G>T 11.__UNKNOWN__:g.134183876G>T ENSP00000396615:p.Gly541Cys A6NEM0|A6NN15|Q6P3S3|Q96FF8 __UNKNOWN__ CCDS44780.1 . . . . . . . . . . G 14.32 2.500048 0.44455 . . ENSG00000166105 ENST00000431683 D 0.95724 -3.79 4.78 -4.53 0.03462 Galactose-binding domain-like (1); 1.474610 0.03748 N 0.256133 D 0.95680 0.8595 M 0.75777 2.31 0.09310 N 1 D 0.57899 0.981 P 0.54759 0.76 D 0.89515 0.3774 10 0.62326 D 0.03 . 5.3221 0.15887 0.5683:0.0:0.1738:0.2578 . 541 Q8NCI6 GLBL3_HUMAN C 541 ENSP00000396615:G541C ENSP00000396615:G541C G + 1 0 GLB1L3 133689086 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.009000 0.12765 -0.733000 0.04850 -0.253000 0.11424 GGC GLB1L3-007 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393625.1 + ENST00000431683.2 Missense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 BCAS1 8537 broad.mit.edu 37 20 52674691 52674691 + Silent SNP G G A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr20:52674691G>A ENST00000395961.3 - 3.0 241 c.75C>T c.(73-75)gaC>gaT p.D25D BCAS1_ENST00000371435.2_Silent_p.D25D|BCAS1_ENST00000371440.3_Silent_p.D25D|BCAS1_ENST00000411563.1_Intron NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 25.0 cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) 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) 37.0 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) CAGACGCGTTGTCCTGAAACA 0.502 0 70.0 57.0 61.0 20 52674691.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF041260 CCDS13444.1 20q13.2 2006-11-10 ENSG00000064787 ENSG00000064787 8537.0 8537.0 974.0 protein-coding gene gene with protein product 602968.0 9671742 Standard NM_003657 NM_003657 Approved NABC1, AIBC1 uc002xws.2 O75363 OTTHUMG00000032772 ENST00000395961.3:c.75C>T 20.__UNKNOWN__:g.52674691G>A A0AVG5|Q68CZ3 __UNKNOWN__ CCDS13444.1 BCAS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079766.2 - ENST00000395961.3 Silent SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 APOL2 23780 broad.mit.edu 37 22 36624072 36624072 + Missense_Mutation SNP G G C TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr22:36624072G>C ENST00000249066.6 - 6.0 868 c.392C>G c.(391-393)aCc>aGc p.T131S APOL2_ENST00000358502.5_Missense_Mutation_p.T131S|APOL2_ENST00000451256.2_Missense_Mutation_p.T243S NM_145637.1 NP_663612.1 Q9BQE5 APOL2_HUMAN apolipoprotein L, 2 131.0 acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275) endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020) high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2) 9.0 GCCGAGGAGGGTCAGGATGCC 0.582 0 74.0 83.0 80.0 22 36624072.0 2201.0 4296.0 6497.0 SO:0001583 missense AF324224 CCDS43014.1 22q12.3 2013-09-20 ENSG00000128335 ENSG00000128335 23780.0 23780.0 """Apolipoproteins""" 619.0 protein-coding gene gene with protein product """apolipoprotein L-II""" 607252.0 10591208, 11374903 Standard NM_145637 NM_145637 Approved APOL-II uc003apa.3 Q9BQE5 OTTHUMG00000150634 ENST00000249066.6:c.392C>G 22.__UNKNOWN__:g.36624072G>C ENSP00000249066:p.Thr131Ser B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10 __UNKNOWN__ CCDS43014.1 . . . . . . . . . . G 1.766 -0.485622 0.04352 . . ENSG00000128335 ENST00000358502;ENST00000249066;ENST00000451256 T;T;T 0.03801 3.8;3.8;3.8 3.57 -7.15 0.01521 . 0.671823 0.15529 N 0.257588 T 0.02455 0.0075 N 0.11154 0.105 0.09310 N 1 B;B 0.26445 0.149;0.021 B;B 0.25140 0.058;0.019 T 0.24154 -1.0168 10 0.06757 T 0.87 . 20.0245 0.97517 0.0:0.7352:0.2648:0.0 . 243;131 B4E1T5;Q9BQE5 .;APOL2_HUMAN S 131;131;243 ENSP00000351292:T131S;ENSP00000249066:T131S;ENSP00000403153:T243S ENSP00000249066:T131S T - 2 0 APOL2 34954018 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -2.615000 0.00882 -1.838000 0.01187 -1.963000 0.00474 ACC APOL2-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000319279.1 - ENST00000249066.6 Missense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 ITGB1 3688 broad.mit.edu 37 10 33217043 33217045 + In_Frame_Del DEL TCC TCC - TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr10:33217043_33217045delTCC ENST00000396033.2 - 5.0 659_661 c.524_526delGGA c.(523-528)aggatt>att p.R175del ITGB1_ENST00000302278.3_In_Frame_Del_p.R175del|ITGB1_ENST00000374956.4_In_Frame_Del_p.R175del|ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000423113.1_In_Frame_Del_p.R175del NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 175.0 VWFA. axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032) acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383) actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618) 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) 37.0 Ovarian(717;1.34e-05)|Breast(68;0.0634) Antithymocyte globulin(DB00098) TCCGAAGTAATCCTCCTCATTTC 0.355 0 SO:0001651 inframe_deletion BC020057 CCDS7174.1 10p11.2 2010-10-13 ENSG00000150093 ENSG00000150093 3688.0 3688.0 """CD molecules"", ""Integrins""" 6153.0 protein-coding gene gene with protein product 135630.0 FNRB, MSK12, MDF2 2524991 Standard NM_002211 NM_033668 Approved CD29, GPIIA uc001iwt.4 P05556 OTTHUMG00000017928 ENST00000396033.2:c.524_526delGGA 10.__UNKNOWN__:g.33217046_33217048delTCC ENSP00000379350:p.Arg175del A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6 __UNKNOWN__ CCDS7174.1 ITGB1-202 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000047496.1 - ENST00000396033.2 In_Frame_Del DEL PCPG-TCGA-RW-A686-Normal-SM-5EQG5 FGF5 2250 broad.mit.edu 37 4 81188037 81188037 + Missense_Mutation SNP C C T TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr4:81188037C>T ENST00000312465.7 + 1.0 285 c.59C>T c.(58-60)gCt>gTt p.A20V FGF5_ENST00000456523.3_Missense_Mutation_p.A20V NM_004464.3 NP_004455.2 P12034 FGF5_HUMAN fibroblast growth factor 5 20.0 cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019) extracellular region (GO:0005576)|extracellular space (GO:0005615) fibroblast growth factor receptor binding (GO:0005104) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22.0 AGCGCCTGGGCTCACGGGGAG 0.617 0 41.0 44.0 43.0 4 81188037.0 2202.0 4300.0 6502.0 SO:0001583 missense M23534 CCDS3586.1, CCDS34021.1 4q21 2014-01-30 ENSG00000138675 ENSG00000138675 2250.0 2250.0 """Endogenous ligands""" 3683.0 protein-coding gene gene with protein product 165190.0 3211147, 2577873 Standard NM_001291812 Approved uc003hmd.3 P12034 OTTHUMG00000130288 ENST00000312465.7:c.59C>T 4.__UNKNOWN__:g.81188037C>T ENSP00000311697:p.Ala20Val B2R554|O75846|Q3Y8M3|Q8NF90 __UNKNOWN__ CCDS34021.1 . . . . . . . . . . C 20.8 4.051676 0.75960 . . ENSG00000138675 ENST00000312465;ENST00000456523 T;T 0.09073 3.02;3.02 5.51 4.67 0.58626 . 0.361948 0.25408 N 0.030884 T 0.07548 0.0190 L 0.29908 0.895 0.33789 D 0.625237 P;B 0.36010 0.532;0.039 B;B 0.37422 0.249;0.012 T 0.23940 -1.0174 10 0.41790 T 0.15 . 9.8889 0.41279 0.0:0.7873:0.1385:0.0741 . 20;20 P12034-2;P12034 .;FGF5_HUMAN V 20 ENSP00000311697:A20V;ENSP00000398353:A20V ENSP00000311697:A20V A + 2 0 FGF5 81407061 1.000000 0.71417 1.000000 0.80357 0.720000 0.41350 1.292000 0.33342 1.557000 0.49525 0.561000 0.74099 GCT FGF5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252627.2 + ENST00000312465.7 Missense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 BSN 8927 broad.mit.edu 37 3 49702234 49702234 + Missense_Mutation SNP G G A TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr3:49702234G>A ENST00000296452.4 + 10.0 11857 c.11743G>A c.(11743-11745)Gtc>Atc p.V3915I NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3915.0 synaptic transmission (GO:0007268) axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788) metal ion binding (GO:0046872) 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) 106.0 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TGTCACAGCTGTCTCTGCTTT 0.542 0 149.0 146.0 147.0 3 49702234.0 2203.0 4300.0 6503.0 SO:0001583 missense AF052224 CCDS2800.1 3p21 2013-01-07 2013-01-07 ENSG00000164061 ENSG00000164061 8927.0 8927.0 1117.0 protein-coding gene gene with protein product """zinc finger protein 231"", ""neuronal double zinc finger protein""" 604020.0 """bassoon (presynaptic cytomatrix protein)""" ZNF231 9806829, 10329005 Standard NM_003458 NM_003458 Approved uc003cxe.4 Q9UPA5 OTTHUMG00000133750 ENST00000296452.4:c.11743G>A 3.__UNKNOWN__:g.49702234G>A ENSP00000296452:p.Val3915Ile O43161|Q7LGH3 __UNKNOWN__ CCDS2800.1 . . . . . . . . . . G 14.58 2.579003 0.46006 . . ENSG00000164061 ENST00000296452 T 0.19105 2.17 5.02 5.02 0.67125 . 0.470589 0.20246 N 0.096196 T 0.17280 0.0415 L 0.38531 1.155 0.47778 D 0.999518 P 0.38020 0.615 B 0.29267 0.1 T 0.04413 -1.0953 10 0.38643 T 0.18 -19.9079 17.4698 0.87642 0.0:0.0:1.0:0.0 . 3915 Q9UPA5 BSN_HUMAN I 3915 ENSP00000296452:V3915I ENSP00000296452:V3915I V + 1 0 BSN 49677238 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 4.742000 0.62103 2.481000 0.83766 0.561000 0.74099 GTC BSN-001 KNOWN NMD_exception|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000258164.1 + ENST00000296452.4 Missense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 CELSR3 1951 broad.mit.edu 37 3 48696931 48696931 + Missense_Mutation SNP G G A TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr3:48696931G>A ENST00000164024.4 - 1.0 3417 c.3137C>T c.(3136-3138)cCa>cTa p.P1046L CELSR3_ENST00000544264.1_Missense_Mutation_p.P1046L NM_001407.2 NP_001398.2 Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1046.0 Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}. axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) 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) 83.0 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGTCCGGAGTGGGGGCACACC 0.557 0 130.0 127.0 128.0 3 48696931.0 2203.0 4300.0 6503.0 SO:0001583 missense AF231023 CCDS2775.1 3p21.31 2014-08-08 2013-02-18 ENSG00000008300 ENSG00000008300 1951.0 1951.0 """Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans""" 3230.0 protein-coding gene gene with protein product """flamingo homolog 1 (Drosophila)""" 604264.0 """cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog""" EGFL1 9693030 Standard NM_001407 NM_001407 Approved MEGF2, HFMI1, FMI1, CDHF11 uc003cuf.1 Q9NYQ7 OTTHUMG00000133544 ENST00000164024.4:c.3137C>T 3.__UNKNOWN__:g.48696931G>A ENSP00000164024:p.Pro1046Leu O75092 __UNKNOWN__ CCDS2775.1 . . . . . . . . . . G 22.8 4.334896 0.81801 . . ENSG00000008300 ENST00000164024;ENST00000544264 T;T 0.56941 0.43;0.43 5.78 5.78 0.91487 Cadherin (4);Cadherin-like (1); . . . . T 0.75295 0.3830 M 0.81682 2.555 0.80722 D 1 D;D 0.71674 0.985;0.998 P;D 0.69654 0.833;0.965 T 0.77595 -0.2529 9 0.87932 D 0 . 19.9981 0.97395 0.0:0.0:1.0:0.0 . 1046;1116 Q9NYQ7;Q5Y190 CELR3_HUMAN;. L 1046 ENSP00000164024:P1046L;ENSP00000445694:P1046L ENSP00000164024:P1046L P - 2 0 CELSR3 48671935 1.000000 0.71417 0.990000 0.47175 0.946000 0.59487 9.869000 0.99810 2.733000 0.93635 0.561000 0.74099 CCA CELSR3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257523.1 - ENST00000164024.4 Missense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 DYSF 8291 broad.mit.edu 37 2 71740930 71740930 + Missense_Mutation SNP G G A TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr2:71740930G>A ENST00000410020.3 + 7.0 779 c.638G>A c.(637-639)gGg>gAg p.G213E DYSF_ENST00000258104.3_Missense_Mutation_p.G181E|DYSF_ENST00000409651.1_Missense_Mutation_p.G213E|DYSF_ENST00000429174.2_Missense_Mutation_p.G181E|DYSF_ENST00000410041.1_Missense_Mutation_p.G213E|DYSF_ENST00000409744.1_Missense_Mutation_p.G182E|DYSF_ENST00000413539.2_Missense_Mutation_p.G212E|DYSF_ENST00000409582.3_Missense_Mutation_p.G212E|DYSF_ENST00000409762.1_Missense_Mutation_p.G212E|DYSF_ENST00000409366.1_Missense_Mutation_p.G182E|DYSF_ENST00000394120.2_Missense_Mutation_p.G182E NM_001130987.1 NP_001124459.1 O75923 DYSF_HUMAN dysferlin 181.0 C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}. plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906) cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543) 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) 111.0 GGAGGCCCGGGGGCTCCCACC 0.592 0 51.0 52.0 52.0 2 71740930.0 2203.0 4300.0 6503.0 SO:0001583 missense AF075575 CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1 2p13.3 2014-09-17 2013-09-12 ENSG00000135636 ENSG00000135636 8291.0 8291.0 3097.0 protein-coding gene gene with protein product """fer-1-like family member 1""" 603009.0 """limb girdle muscular dystrophy 2B (autosomal recessive)""" LGMD2B 8320700 Standard NM_003494 NM_003494 Approved FER1L1 uc010fen.3 O75923 OTTHUMG00000129757 ENST00000410020.3:c.638G>A 2.__UNKNOWN__:g.71740930G>A ENSP00000386881:p.Gly213Glu A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7 __UNKNOWN__ CCDS46328.1 . . . . . . . . . . G 7.025 0.559400 0.13436 . . ENSG00000135636 ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041 D;D;D;D;D;D;D;D;D;D;D 0.82893 -1.65;-1.65;-1.64;-1.66;-1.66;-1.64;-1.62;-1.62;-1.62;-1.64;-1.63 3.88 3.88 0.44766 . 0.215038 0.39759 N 0.001280 T 0.79275 0.4418 L 0.43152 1.355 0.41800 D 0.989918 B;B;B;P;B;B;B;B;B;P;P;P;P;P 0.49358 0.003;0.003;0.002;0.855;0.003;0.003;0.003;0.082;0.003;0.537;0.923;0.855;0.855;0.773 B;B;B;P;B;B;B;B;B;B;P;P;P;P 0.55260 0.03;0.03;0.03;0.772;0.02;0.011;0.02;0.036;0.03;0.155;0.47;0.772;0.772;0.597 T 0.76002 -0.3118 10 0.02654 T 1 -32.4268 7.588 0.28004 0.1117:0.0:0.8883:0.0 . 213;213;182;182;213;182;212;181;212;212;181;181;182;181 O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923 .;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN E 212;212;212;181;181;213;182;182;182;213;213 ENSP00000407046:G212E;ENSP00000387137:G212E;ENSP00000386547:G212E;ENSP00000398305:G181E;ENSP00000258104:G181E;ENSP00000386683:G213E;ENSP00000377678:G182E;ENSP00000386285:G182E;ENSP00000386512:G182E;ENSP00000386881:G213E;ENSP00000386617:G213E ENSP00000258104:G181E G + 2 0 DYSF 71594438 1.000000 0.71417 0.797000 0.32132 0.257000 0.26127 1.140000 0.31516 2.464000 0.83262 0.549000 0.68633 GGG DYSF-007 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000327477.2 + ENST00000410020.3 Missense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 ABCA12 26154 broad.mit.edu 37 2 215910616 215910616 + Missense_Mutation SNP A A T TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr2:215910616A>T ENST00000272895.7 - 7.0 1036 c.817T>A c.(817-819)Ttt>Att p.F273I NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 273.0 cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129) cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886) apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102) 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) 139.0 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) TCATTCTGAAACACATTTGGA 0.358 Ovarian(66;664 1488 5121 34295) 0 89.0 92.0 91.0 2 215910616.0 2202.0 4300.0 6502.0 SO:0001583 missense AF418105 CCDS33372.1, CCDS33373.1 2q34 2012-03-14 ENSG00000144452 ENSG00000144452 26154.0 26154.0 """ATP binding cassette transporters / subfamily A""" 14637.0 protein-coding gene gene with protein product 607800.0 """ichthyosis congenita II, lamellar ichthyosis B""" ICR2B 11435397, 12915478, 8845852, 10094194 Standard NM_173076 NM_015657 Approved DKFZP434G232, LI2 uc002vew.3 Q86UK0 OTTHUMG00000154801 ENST00000272895.7:c.817T>A 2.__UNKNOWN__:g.215910616A>T ENSP00000272895:p.Phe273Ile Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5 __UNKNOWN__ CCDS33372.1 . . . . . . . . . . A 16.25 3.069774 0.55539 . . ENSG00000144452 ENST00000272895 T 0.23552 1.9 5.62 4.47 0.54385 . 0.088909 0.49305 D 0.000145 T 0.16300 0.0392 L 0.27053 0.805 0.80722 D 1 B 0.24258 0.1 B 0.15484 0.013 T 0.06023 -1.0850 10 0.35671 T 0.21 . 8.4528 0.32882 0.9117:0.0:0.0883:0.0 . 273 Q86UK0 ABCAC_HUMAN I 273 ENSP00000272895:F273I ENSP00000272895:F273I F - 1 0 ABCA12 215618861 0.997000 0.39634 0.997000 0.53966 0.988000 0.76386 1.043000 0.30316 1.082000 0.41137 0.477000 0.44152 TTT ABCA12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337111.1 - ENST00000272895.7 Missense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 ARHGAP29 9411 broad.mit.edu 37 1 94639989 94639989 + Silent SNP C C T TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr1:94639989C>T ENST00000260526.6 - 23.0 3404 c.3222G>A c.(3220-3222)caG>caA p.Q1074Q NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 1074.0 positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100) NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54.0 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) GTAGAGTTTGCTGGTCAAAGC 0.388 0 152.0 148.0 149.0 1 94639989.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS748.1 1p22.1 2011-06-29 ENSG00000137962 ENSG00000137962 9411.0 9411.0 """Rho GTPase activating proteins""" 30207.0 protein-coding gene gene with protein product 610496.0 9305890 Standard NM_004815 NM_004815 Approved PARG1 uc001dqj.4 Q52LW3 OTTHUMG00000010643 ENST00000260526.6:c.3222G>A 1.__UNKNOWN__:g.94639989C>T O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6 __UNKNOWN__ CCDS748.1 ARHGAP29-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000029376.2 - ENST00000260526.6 Silent SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 SLC47A1 55244 broad.mit.edu 37 17 19458546 19458546 + Missense_Mutation SNP G G A TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr17:19458546G>A ENST00000436810.2 + 6.0 608 c.496G>A c.(496-498)Gta>Ata p.V166I SLC47A1_ENST00000457293.1_Missense_Mutation_p.V189I|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000270570.4_Missense_Mutation_p.V189I|SLC47A1_ENST00000395585.1_Missense_Mutation_p.V189I|SLC47A1_ENST00000542886.1_Intron Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 189.0 organic cation transport (GO:0015695)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886) drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23.0 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877) GCCCCAGATCGTAACTGGAGT 0.507 0 302.0 245.0 265.0 17 19458546.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS11209.1 17p11.2 2013-07-17 2013-07-17 ENSG00000142494 ENSG00000142494 55244.0 55244.0 """Solute carriers""" 25588.0 protein-coding gene gene with protein product """multidrug and toxin extrusion 1""" 609832.0 16330770, 16996621, 16928787 Standard NM_018242 NM_018242 Approved FLJ10847, MATE1 uc002gvy.1 Q96FL8 OTTHUMG00000059466 ENST00000436810.2:c.496G>A 17.__UNKNOWN__:g.19458546G>A ENSP00000407155:p.Val166Ile Q53HF5|Q6PD77|Q86VL4|Q9NVA3 __UNKNOWN__ . . . . . . . . . . G 1.238 -0.622120 0.03636 . . ENSG00000142494 ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585 T;T;T;T 0.29142 1.58;1.58;1.58;1.58 5.6 -4.78 0.03209 . 0.538389 0.22101 N 0.064617 T 0.08403 0.0209 N 0.04669 -0.19 0.40720 D 0.982656 B;B;B 0.12013 0.001;0.001;0.005 B;B;B 0.11329 0.002;0.004;0.006 T 0.25222 -1.0138 10 0.12430 T 0.62 -14.0053 3.3813 0.07256 0.309:0.3816:0.2175:0.0919 . 166;189;189 E7EX57;Q96FL8;Q96FL8-3 .;S47A1_HUMAN;. I 166;189;189;189 ENSP00000407155:V166I;ENSP00000270570:V189I;ENSP00000415586:V189I;ENSP00000378951:V189I ENSP00000270570:V189I V + 1 0 SLC47A1 19399138 0.000000 0.05858 0.000000 0.03702 0.712000 0.41017 -1.974000 0.01499 -0.814000 0.04352 -0.137000 0.14449 GTA SLC47A1-006 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000440972.1 + ENST00000436810.2 Missense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 MRC2 9902 broad.mit.edu 37 17 60742089 60742089 + Missense_Mutation SNP G G A TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr17:60742089G>A ENST00000303375.5 + 2.0 701 c.299G>A c.(298-300)gGc>gAc p.G100D NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 100.0 Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}. collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649) focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020) carbohydrate binding (GO:0030246)|collagen binding (GO:0005518) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53.0 GGCTGGCCAGGCACCAACACC 0.607 0 77.0 70.0 73.0 17 60742089.0 2203.0 4300.0 6503.0 SO:0001583 missense AB014609 CCDS11634.1 17q23 2011-08-30 ENSG00000011028 9902.0 9902.0 """CD molecules"", ""C-type lectin domain containing""" 16875.0 protein-coding gene gene with protein product 612264.0 9734811, 8702911 Standard NM_006039 Approved KIAA0709, ENDO180, CLEC13E, CD280 uc002jad.4 Q9UBG0 ENST00000303375.5:c.299G>A 17.__UNKNOWN__:g.60742089G>A ENSP00000307513:p.Gly100Asp A6H8K4|D3DU08|Q7LGE7|Q9Y5P9 __UNKNOWN__ CCDS11634.1 . . . . . . . . . . G 14.61 2.586310 0.46110 . . ENSG00000011028 ENST00000303375 T 0.31769 1.48 5.23 3.21 0.36854 Ricin B-related lectin (1);Ricin B lectin (2); 0.350989 0.33753 N 0.004596 T 0.18215 0.0437 N 0.25647 0.755 0.80722 D 1 B 0.28713 0.22 B 0.24006 0.05 T 0.05716 -1.0868 10 0.45353 T 0.12 -23.7362 6.2578 0.20884 0.0699:0.2445:0.5594:0.1261 . 100 Q9UBG0 MRC2_HUMAN D 100 ENSP00000307513:G100D ENSP00000307513:G100D G + 2 0 MRC2 58095821 0.985000 0.35326 0.995000 0.50966 0.987000 0.75469 2.306000 0.43673 0.578000 0.29487 0.561000 0.74099 GGC MRC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000445152.1 + ENST00000303375.5 Missense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 PCK1 5105 broad.mit.edu 37 20 56138155 56138155 + Missense_Mutation SNP A A T TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr20:56138155A>T ENST00000319441.4 + 5.0 846 c.682A>T c.(682-684)Atc>Ttc p.I228F PCK1_ENST00000535860.1_Missense_Mutation_p.I96F|PCK1_ENST00000543666.1_Intron NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 228.0 carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613) endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34.0 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) CCGCAGAGAGATCATCTCCTT 0.612 0 76.0 79.0 78.0 20 56138155.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS13460.1 20q13.31 2007-11-06 ENSG00000124253 ENSG00000124253 5105.0 5105.0 4.1.1.32 8724.0 protein-coding gene gene with protein product 614168.0 1492743 Standard NM_002591 Approved PEPCK-C uc002xyn.4 P35558 OTTHUMG00000032825 ENST00000319441.4:c.682A>T 20.__UNKNOWN__:g.56138155A>T ENSP00000319814:p.Ile228Phe A8K437|B4DT64|Q8TCA3|Q9UJD2 __UNKNOWN__ CCDS13460.1 . . . . . . . . . . A 29.6 5.018649 0.93404 . . ENSG00000124253 ENST00000319441;ENST00000535860 T;T 0.08984 3.03;3.03 5.06 5.06 0.68205 Phosphoenolpyruvate carboxykinase, N-terminal (2); 0.000000 0.85682 D 0.000000 T 0.45597 0.1350 H 0.98111 4.15 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 T 0.67051 -0.5768 10 0.87932 D 0 -41.4685 15.1223 0.72453 1.0:0.0:0.0:0.0 . 228 P35558 PCKGC_HUMAN F 228;96 ENSP00000319814:I228F;ENSP00000444342:I96F ENSP00000319814:I228F I + 1 0 PCK1 55571561 1.000000 0.71417 1.000000 0.80357 0.935000 0.57460 6.983000 0.76180 2.040000 0.60383 0.533000 0.62120 ATC PCK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079851.2 + ENST00000319441.4 Missense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 BCR 613 broad.mit.edu 37 22 23523743 23523743 + Missense_Mutation SNP G G A TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr22:23523743G>A ENST00000305877.8 + 1.0 1347 c.596G>A c.(595-597)cGc>cAc p.R199H BCR_ENST00000398512.5_Missense_Mutation_p.R199H|BCR_ENST00000359540.3_Missense_Mutation_p.R199H NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 199.0 Binding to ABL SH2-domain.|Kinase. actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234) ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35.0 Bosutinib(DB06616)|Ponatinib(DB08901) GTGTCGGACCGCATCAGCTCC 0.667 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" Dom yes 22 22q11.21 613.0 breakpoint cluster region L 0 SO:0001583 missense CCDS13806.1, CCDS13807.1 22q11 2013-01-10 ENSG00000186716 ENSG00000186716 613.0 613.0 """Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing""" 1014.0 protein-coding gene gene with protein product 151410.0 D22S11, BCR1 1657398, 18070886 Standard NM_004327 NM_004327 Approved D22S662, CML, PHL, ALL uc002zww.3 P11274 OTTHUMG00000150655 ENST00000305877.8:c.596G>A 22.__UNKNOWN__:g.23523743G>A ENSP00000303507:p.Arg199His P78501|Q12842|Q4LE80|Q6NZI3 __UNKNOWN__ CCDS13806.1 . . . . . . . . . . G 15.43 2.832592 0.50845 . . ENSG00000186716 ENST00000305877;ENST00000359540;ENST00000398512;ENST00000290956;ENST00000292697;ENST00000420248 T;T;T 0.48836 1.64;1.63;0.8 4.35 3.34 0.38264 . 0.081767 0.48286 D 0.000199 T 0.31358 0.0794 N 0.14661 0.345 0.27192 N 0.960401 P;D 0.53151 0.938;0.958 P;B 0.45610 0.487;0.271 T 0.13899 -1.0492 10 0.72032 D 0.01 . 6.7864 0.23675 0.23:0.0:0.77:0.0 . 199;199 P11274-2;P11274 .;BCR_HUMAN H 199 ENSP00000303507:R199H;ENSP00000352535:R199H;ENSP00000381524:R199H ENSP00000290956:R199H R + 2 0 BCR 21853743 0.999000 0.42202 0.219000 0.23793 0.295000 0.27426 4.931000 0.63469 0.959000 0.37980 -0.259000 0.10710 CGC BCR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000075819.1 + ENST00000305877.8 Missense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 APOL2 23780 broad.mit.edu 37 22 36624072 36624072 + Missense_Mutation SNP G G C TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr22:36624072G>C ENST00000249066.6 - 6.0 868 c.392C>G c.(391-393)aCc>aGc p.T131S APOL2_ENST00000358502.5_Missense_Mutation_p.T131S|APOL2_ENST00000451256.2_Missense_Mutation_p.T243S NM_145637.1 NP_663612.1 Q9BQE5 APOL2_HUMAN apolipoprotein L, 2 131.0 acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275) endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020) high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2) 9.0 GCCGAGGAGGGTCAGGATGCC 0.582 0 74.0 83.0 80.0 22 36624072.0 2201.0 4296.0 6497.0 SO:0001583 missense AF324224 CCDS43014.1 22q12.3 2013-09-20 ENSG00000128335 ENSG00000128335 23780.0 23780.0 """Apolipoproteins""" 619.0 protein-coding gene gene with protein product """apolipoprotein L-II""" 607252.0 10591208, 11374903 Standard NM_145637 NM_145637 Approved APOL-II uc003apa.3 Q9BQE5 OTTHUMG00000150634 ENST00000249066.6:c.392C>G 22.__UNKNOWN__:g.36624072G>C ENSP00000249066:p.Thr131Ser B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10 __UNKNOWN__ CCDS43014.1 . . . . . . . . . . G 1.766 -0.485622 0.04352 . . ENSG00000128335 ENST00000358502;ENST00000249066;ENST00000451256 T;T;T 0.03801 3.8;3.8;3.8 3.57 -7.15 0.01521 . 0.671823 0.15529 N 0.257588 T 0.02455 0.0075 N 0.11154 0.105 0.09310 N 1 B;B 0.26445 0.149;0.021 B;B 0.25140 0.058;0.019 T 0.24154 -1.0168 10 0.06757 T 0.87 . 20.0245 0.97517 0.0:0.7352:0.2648:0.0 . 243;131 B4E1T5;Q9BQE5 .;APOL2_HUMAN S 131;131;243 ENSP00000351292:T131S;ENSP00000249066:T131S;ENSP00000403153:T243S ENSP00000249066:T131S T - 2 0 APOL2 34954018 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -2.615000 0.00882 -1.838000 0.01187 -1.963000 0.00474 ACC APOL2-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000319279.1 - ENST00000249066.6 Missense_Mutation SNP PCPG-TCGA-RW-A686-Normal-SM-5EQG5 ITGB1 3688 broad.mit.edu 37 10 33217043 33217045 + In_Frame_Del DEL TCC TCC - TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr10:33217043_33217045delTCC ENST00000396033.2 - 5.0 659_661 c.524_526delGGA c.(523-528)aggatt>att p.R175del ITGB1_ENST00000302278.3_In_Frame_Del_p.R175del|ITGB1_ENST00000374956.4_In_Frame_Del_p.R175del|ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000423113.1_In_Frame_Del_p.R175del NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 175.0 VWFA. axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032) acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383) actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618) 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) 37.0 Ovarian(717;1.34e-05)|Breast(68;0.0634) Antithymocyte globulin(DB00098) TCCGAAGTAATCCTCCTCATTTC 0.355 0 SO:0001651 inframe_deletion BC020057 CCDS7174.1 10p11.2 2010-10-13 ENSG00000150093 ENSG00000150093 3688.0 3688.0 """CD molecules"", ""Integrins""" 6153.0 protein-coding gene gene with protein product 135630.0 FNRB, MSK12, MDF2 2524991 Standard NM_002211 NM_033668 Approved CD29, GPIIA uc001iwt.4 P05556 OTTHUMG00000017928 ENST00000396033.2:c.524_526delGGA 10.__UNKNOWN__:g.33217046_33217048delTCC ENSP00000379350:p.Arg175del A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6 __UNKNOWN__ CCDS7174.1 ITGB1-202 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000047496.1 - ENST00000396033.2 In_Frame_Del DEL PCPG-TCGA-RW-A686-Normal-SM-5EQG5 SEC14L3 266629 broad.mit.edu 37 22 30858116 30858116 + Frame_Shift_Del DEL C C - TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr22:30858116delC ENST00000215812.4 - 9.0 818 c.728delG c.(727-729)ggcfs p.G243fs SEC14L3_ENST00000403066.1_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000401751.1_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000402286.1_Frame_Shift_Del_p.G166fs|SEC14L3_ENST00000539629.1_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000415957.2_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000540910.1_Frame_Shift_Del_p.G166fs NM_174975.4 NP_777635.1 Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 243.0 CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}. extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622) lipid binding (GO:0008289)|transporter activity (GO:0005215) NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19.0 Vitamin E(DB00163) AGTCAGGGTGCCCCCAAACTG 0.507 Esophageal Squamous(108;290 1516 3584 23771 37333) 0 95.0 82.0 86.0 22 30858116.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant AY158086 CCDS13877.1, CCDS58800.1, CCDS58801.1 22q12.2 2013-09-23 ENSG00000100012 ENSG00000100012 266629.0 266629.0 18655.0 protein-coding gene gene with protein product 612824.0 Standard NM_174975 NM_174975 Approved TAP2 uc003ahy.3 Q9UDX4 OTTHUMG00000151259 ENST00000215812.4:c.728delG 22.__UNKNOWN__:g.30858116delC ENSP00000215812:p.Gly243fs E7EN74|E9PE57|Q495V8|Q495W0|Q495W1 __UNKNOWN__ CCDS13877.1 SEC14L3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000321950.4 - ENST00000215812.4 Frame_Shift_Del DEL PCPG-TCGA-RW-A686-Normal-SM-5EQG5 EHF 26298 broad.mit.edu 37 11 34673125 34673125 + Missense_Mutation SNP A A G TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr11:34673125A>G ENST00000533754.1 + 5.0 660 c.443A>G c.(442-444)tAt>tGt p.Y148C EHF_ENST00000450654.2_Missense_Mutation_p.Y148C|EHF_ENST00000530286.1_Missense_Mutation_p.Y148C|EHF_ENST00000531794.1_Missense_Mutation_p.Y170C|EHF_ENST00000257831.3_Missense_Mutation_p.Y148C ets homologous factor NFIA/EHF(2) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1) 17.0 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) GACGAGAACTATTTATATGAC 0.428 0 114.0 107.0 110.0 11 34673125.0 2202.0 4298.0 6500.0 SO:0001583 missense AF170583 CCDS7894.1, CCDS55752.1, CCDS55753.1 11p12 2008-07-18 ENSG00000135373 26298.0 26298.0 3246.0 protein-coding gene gene with protein product """epithelium-specific ets factor 3"", ""ESE3 transcription factor""" 605439.0 10527851 Standard NM_012153 NM_012153 Approved ESE3, ESEJ uc021qfu.1 Q9NZC4 ENST00000533754.1:c.443A>G 11.__UNKNOWN__:g.34673125A>G ENSP00000435837:p.Tyr148Cys __UNKNOWN__ CCDS7894.1 . . . . . . . . . . A 19.25 3.790737 0.70452 . . ENSG00000135373 ENST00000257831;ENST00000450654;ENST00000530286;ENST00000533754;ENST00000529527;ENST00000525253;ENST00000531794;ENST00000532302 T;T;T;T;T;T;T;T 0.37915 3.2;2.9;3.2;3.2;1.22;1.32;3.17;1.17 6.17 6.17 0.99709 . 0.896139 0.09982 N 0.730843 T 0.52175 0.1718 L 0.29908 0.895 0.80722 D 1 D;D;D 0.89917 0.999;1.0;1.0 D;D;D 0.85130 0.936;0.997;0.996 T 0.29792 -1.0000 10 0.37606 T 0.19 . 16.8222 0.85835 1.0:0.0:0.0:0.0 . 170;148;148 E9PSB2;Q9NZC4-2;Q9NZC4 .;.;EHF_HUMAN C 148;148;148;148;148;148;170;148 ENSP00000257831:Y148C;ENSP00000399733:Y148C;ENSP00000433508:Y148C;ENSP00000435837:Y148C;ENSP00000432905:Y148C;ENSP00000434395:Y148C;ENSP00000435835:Y170C;ENSP00000432460:Y148C ENSP00000257831:Y148C Y + 2 0 EHF 34629701 1.000000 0.71417 0.998000 0.56505 0.907000 0.53573 3.437000 0.52863 2.371000 0.80710 0.533000 0.62120 TAT EHF-003 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000389855.1 + ENST00000533754.1 Missense_Mutation SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ MGST1 4257 broad.mit.edu 37 12 16516841 16516841 + Missense_Mutation SNP G G A rs139915404 TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr12:16516841G>A ENST00000535309.1 + 3.0 260 MGST1_ENST00000396210.3_Missense_Mutation_p.G112R|MGST1_ENST00000396207.1_Missense_Mutation_p.G112R|MGST1_ENST00000010404.2_Missense_Mutation_p.G112R|MGST1_ENST00000396209.1_Missense_Mutation_p.G112R|MGST1_ENST00000540056.1_3'UTR NM_001267598.1 NP_001254527.1 P10620 MGST1_HUMAN microsomal glutathione S-transferase 1 cellular response to lipid hydroperoxide (GO:0071449)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|Leydig cell differentiation (GO:0033327)|oxidation-reduction process (GO:0055114)|protein homotrimerization (GO:0070207)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) apical part of cell (GO:0045177)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778) glutathione binding (GO:0043295)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364) endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9.0 Hepatocellular(102;0.121) Glutathione(DB00143) ACTATTTGTCGGAGCACGGAT 0.453 0 G ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY 2,4404 4.2+/-10.8 0,2,2201 214.0 195.0 201.0 334,334,334,334 4.4 1.0 12 dbSNP_134 201.0 0,8600 0,0,4300 no missense,missense,missense,missense MGST1 NM_020300.3,NM_145764.1,NM_145791.1,NM_145792.1 125,125,125,125 0,2,6501 AA,AG,GG 0.0,0.0454,0.0154 benign,benign,benign,benign 112/156,112/156,112/156,112/156 16516841.0 2,13004 2203.0 4300.0 6503.0 SO:0001627 intron_variant U46494 CCDS8677.1, CCDS58209.1 12p12.3-p12.1 2012-06-21 ENSG00000008394 ENSG00000008394 4257.0 4257.0 2.5.1.18 """Glutathione S-transferases / Microsomal""" 7061.0 protein-coding gene gene with protein product 138330.0 GST12 Standard NM_145791 NM_145792 Approved MGST-I uc031qgl.1 P10620 OTTHUMG00000168816 ENST00000535309.1:c.221+6208G>A 12.__UNKNOWN__:g.16516841G>A A8K533|G5EA53 __UNKNOWN__ CCDS58209.1 . . . . . . . . . . G 16.73 3.205464 0.58234 4.54E-4 0.0 ENSG00000008394 ENST00000010404;ENST00000543076;ENST00000396210;ENST00000396209;ENST00000396207 T;T;T;T;T 0.59224 0.28;0.28;0.28;0.28;0.28 5.27 4.36 0.52297 Membrane associated eicosanoid/glutathione metabolism-like domain (1); 0.105167 0.64402 D 0.000004 T 0.56307 0.1976 M 0.77103 2.36 0.58432 D 0.999991 B 0.31193 0.312 B 0.27170 0.077 T 0.55798 -0.8084 10 0.25106 T 0.35 6.575 14.4572 0.67425 0.0722:0.0:0.9278:0.0 . 112 P10620 MGST1_HUMAN R 112;76;112;112;112 ENSP00000010404:G112R;ENSP00000442767:G76R;ENSP00000379513:G112R;ENSP00000379512:G112R;ENSP00000379510:G112R ENSP00000010404:G112R G + 1 0 MGST1 16408108 1.000000 0.71417 0.980000 0.43619 0.963000 0.63663 8.447000 0.90332 2.739000 0.93911 0.655000 0.94253 GGA MGST1-004 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000401185.1 + ENST00000535309.1 Intron SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ RAD54L2 23132 broad.mit.edu 37 3 51697226 51697226 + Silent SNP G G C TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr3:51697226G>C ENST00000409535.2 + 22.0 4319 c.4194G>C c.(4192-4194)gcG>gcC p.A1398A RAD54L2_ENST00000296477.3_Silent_p.A1092A NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 1398.0 nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712) NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31.0 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) GGATGTTTGCGCCTTTTCCTT 0.577 0 159.0 134.0 143.0 3 51697226.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB018352 CCDS33765.2 3p21.2 2006-01-17 ENSG00000164080 ENSG00000164080 23132.0 23132.0 29123.0 protein-coding gene gene with protein product 9872452 Standard NM_015106 NM_015106 Approved KIAA0809, SRISNF2L uc011bdt.2 Q9Y4B4 OTTHUMG00000152936 ENST00000409535.2:c.4194G>C 3.__UNKNOWN__:g.51697226G>C Q8TB57|Q9BV54 __UNKNOWN__ CCDS33765.2 . . . . . . . . . . G 4.390 0.072012 0.08436 . . ENSG00000164080 ENST00000432863 D 0.94613 -3.47 5.56 3.41 0.39046 . 0.084341 0.48767 D 0.000170 D 0.92205 0.7528 . . . 0.80722 D 1 . . . . . . D 0.88434 0.3037 7 0.33940 T 0.23 -14.256 4.2008 0.10466 0.0877:0.1259:0.5361:0.2503 . . . . P 1227 ENSP00000410283:A1227P ENSP00000410283:A1227P A + 1 0 RAD54L2 51672266 0.996000 0.38824 1.000000 0.80357 0.998000 0.95712 0.867000 0.27968 1.314000 0.45095 0.655000 0.94253 GCC RAD54L2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000328700.2 + ENST00000409535.2 Silent SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ MAPKAPK3 7867 broad.mit.edu 37 3 50681871 50681871 + Missense_Mutation SNP A A G TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr3:50681871A>G ENST00000446044.1 + 8.0 1132 c.536A>G c.(535-537)aAa>aGa p.K179R MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.K179R NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 179.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674) central_nervous_system(1)|ovary(1) 2.0 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) TCTAAGGAGAAAGACGCAGTG 0.498 0 129.0 119.0 122.0 3 50681871.0 2203.0 4300.0 6503.0 SO:0001583 missense U43784 CCDS2832.1 3p21.3 2004-03-10 ENSG00000114738 ENSG00000114738 7867.0 7867.0 6888.0 protein-coding gene gene with protein product 602130.0 8626550, 8622688 Standard NM_004635 NM_004635 Approved 3pK, MAPKAP3, 3PK uc003dba.2 Q16644 OTTHUMG00000156850 ENST00000446044.1:c.536A>G 3.__UNKNOWN__:g.50681871A>G ENSP00000396467:p.Lys179Arg B5BU67 __UNKNOWN__ CCDS2832.1 . . . . . . . . . . A 2.044 -0.419284 0.04766 . . ENSG00000114738 ENST00000446044;ENST00000430409;ENST00000357955 T;T;T 0.50001 0.76;0.76;0.76 5.79 -1.02 0.10135 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.733496 0.13890 N 0.355652 T 0.26268 0.0641 N 0.20845 0.615 0.09310 N 1 B 0.14012 0.009 B 0.15052 0.012 T 0.15037 -1.0451 10 0.26408 T 0.33 -9.6247 6.0496 0.19779 0.4366:0.369:0.1944:0.0 . 179 Q16644 MAPK3_HUMAN R 179 ENSP00000396467:K179R;ENSP00000410970:K179R;ENSP00000350639:K179R ENSP00000350639:K179R K + 2 0 MAPKAPK3 50656875 0.334000 0.24739 0.001000 0.08648 0.034000 0.12701 1.053000 0.30442 -0.387000 0.07809 -0.313000 0.08912 AAA MAPKAPK3-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346237.1 + ENST00000446044.1 Missense_Mutation SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ TSPEAR 386682 broad.mit.edu 37 21 45978263 45978263 + Silent SNP G G T TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr21:45978263G>T ENST00000397916.1 - 2.0 258 TSPEAR_ENST00000323084.4_Intron|KRTAP10-3_ENST00000391620.1_Silent_p.P112P Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats sensory perception of sound (GO:0007605) cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420) 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) 37.0 tgcagcagacgggcacacagc 0.647 0 140.0 138.0 139.0 21 45978263.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AJ487962 CCDS13712.1, CCDS74801.1 21q22.3 2012-10-30 2011-01-25 2011-01-25 ENSG00000175894 ENSG00000175894 54084.0 54084.0 1268.0 protein-coding gene gene with protein product 612920.0 """chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98""" C21orf29, DFNB98 12095917, 22678063 Standard NM_144991 NM_144991 Approved MGC11251, TSP-EAR uc002zfe.1 Q8WU66 OTTHUMG00000041215 ENST00000397916.1:c.99+9405C>A 21.__UNKNOWN__:g.45978263G>T __UNKNOWN__ TSPEAR-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000195865.1 - ENST00000397916.1 Intron SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ PHIP 55023 broad.mit.edu 37 6 79675671 79675671 + Missense_Mutation SNP T T C TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr6:79675671T>C ENST00000275034.4 - 28.0 3475 c.3308A>G c.(3307-3309)tAc>tGc p.Y1103C PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1103.0 Mediates interaction with IRS1. {ECO:0000250}. cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577) 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) 68.0 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) CCAAACATTGTAGCATTGAAA 0.373 0 134.0 143.0 140.0 6 79675671.0 2203.0 4300.0 6503.0 SO:0001583 missense AF310250 CCDS4987.1 6q14 2013-01-09 ENSG00000146247 ENSG00000146247 55023.0 55023.0 """WD repeat domain containing"", ""DDB1 and CUL4 associated factors""" 15673.0 protein-coding gene gene with protein product """DDB1 and CUL4 associated factor 14""" 612870.0 WDR11 11018022 Standard NM_017934 Approved ndrp, FLJ20705, DCAF14, BRWD2 uc003pir.3 Q8WWQ0 OTTHUMG00000015071 ENST00000275034.4:c.3308A>G 6.__UNKNOWN__:g.79675671T>C ENSP00000275034:p.Tyr1103Cys A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261 __UNKNOWN__ CCDS4987.1 . . . . . . . . . . T 16.57 3.160639 0.57368 . . ENSG00000146247 ENST00000275034 T 0.41758 0.99 5.64 5.64 0.86602 . 0.000000 0.64402 D 0.000001 T 0.54679 0.1873 M 0.69358 2.11 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.83275 0.996;0.996 T 0.55541 -0.8125 9 . . . -5.5745 15.3474 0.74350 0.0:0.0:0.0:1.0 . 1103;1103 A7J992;Q8WWQ0 .;PHIP_HUMAN C 1103 ENSP00000275034:Y1103C . Y - 2 0 PHIP 79732390 1.000000 0.71417 0.994000 0.49952 0.907000 0.53573 4.595000 0.61048 2.279000 0.76181 0.528000 0.53228 TAC PHIP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041297.2 - ENST00000275034.4 Missense_Mutation SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ ERCC6L 54821 broad.mit.edu 37 X 71425181 71425181 + Missense_Mutation SNP G G T TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chrX:71425181G>T ENST00000373657.1 - 3.0 3669 c.3067C>A c.(3067-3069)Cct>Act p.P1023T PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.P1146T Q2NKX8 ERC6L_HUMAN excision repair cross-complementation group 6-like 1146.0 mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067) cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386) breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38.0 Renal(35;0.156) TCTCCGGAAGGATCCTCTTCT 0.502 0 102.0 91.0 95.0 X 71425181.0 2203.0 4300.0 6503.0 SO:0001583 missense AK000112 CCDS35329.1 Xq13.1 2014-03-07 2014-03-07 ENSG00000186871 ENSG00000186871 54821.0 54821.0 20794.0 protein-coding gene gene with protein product """PLK1-interacting checkpoint helicase""" 300687.0 """excision repair cross-complementing rodent repair deficiency, complementation group 6-like""" 17218258 Standard NM_017669 NM_017669 Approved FLJ20105, PICH, RAD26L uc004eaq.1 Q2NKX8 OTTHUMG00000021810 ENST00000373657.1:c.3067C>A X.__UNKNOWN__:g.71425181G>T ENSP00000362761:p.Pro1023Thr Q8NCI1|Q96H93|Q9NXQ8 __UNKNOWN__ . . . . . . . . . . G 13.69 2.312147 0.40895 . . ENSG00000186871 ENST00000373657;ENST00000334463 D;D 0.92099 -2.94;-2.97 5.58 5.58 0.84498 . . . . . D 0.92011 0.7469 L 0.53249 1.67 0.09310 N 1 D 0.54601 0.967 P 0.47346 0.544 D 0.87125 0.2193 9 0.72032 D 0.01 -1.2698 15.8191 0.78626 0.0:0.0:1.0:0.0 . 1146 Q2NKX8 ERC6L_HUMAN T 1023;1146 ENSP00000362761:P1023T;ENSP00000334675:P1146T ENSP00000334675:P1146T P - 1 0 ERCC6L 71341906 1.000000 0.71417 0.006000 0.13384 0.049000 0.14656 2.944000 0.49034 2.333000 0.79357 0.600000 0.82982 CCT ERCC6L-001 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000057173.1 - ENST00000373657.1 Missense_Mutation SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ PDP1 54704 broad.mit.edu 37 8 94934280 94934280 + Missense_Mutation SNP C C G TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr8:94934280C>G ENST00000297598.4 + 0.0 262 PDP1_ENST00000396200.3_Missense_Mutation_p.S23C|PDP1_ENST00000520728.1_5'UTR|PDP1_ENST00000517764.1_5'UTR NM_001161781.1|NM_018444.3 NP_001155253.1|NP_060914.2 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 1 cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) [pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18.0 CCACTGTTCTCTGATGCCATG 0.443 0 129.0 125.0 126.0 8 94934280.0 2203.0 4300.0 6503.0 SO:0001623 5_prime_UTR_variant AF155661 CCDS6259.1, CCDS55262.1 8q22.1 2012-04-17 2009-06-12 2009-06-12 ENSG00000164951 ENSG00000164951 54704.0 54704.0 3.1.3.43 """Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent""" 9279.0 protein-coding gene gene with protein product 605993.0 """protein phosphatase 2C, magnesium-dependent, catalytic subunit""" PPM2C 8396421 Standard NM_018444 NM_001161779 Approved PDP, PDH uc003ygf.3 Q9P0J1 ENST00000297598.4:c.-8C>G 8.__UNKNOWN__:g.94934280C>G B3KX71|J3KPU0|Q5U5K1 __UNKNOWN__ CCDS6259.1 . . . . . . . . . . C 16.22 3.060988 0.55432 . . ENSG00000164951 ENST00000396200 T 0.47869 0.83 6.16 6.16 0.99307 . 0.000000 0.35466 U 0.003186 T 0.34629 0.0904 N 0.14661 0.345 0.29964 N 0.81916 P 0.42785 0.79 B 0.40741 0.339 T 0.43393 -0.9394 10 0.87932 D 0 -13.8974 13.9788 0.64291 0.0:0.9314:0.0:0.0686 . 49 B4DYX8 . C 23 ENSP00000379503:S23C ENSP00000379503:S23C S + 2 0 PDP1 95003456 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 3.331000 0.52075 2.937000 0.99478 0.650000 0.86243 TCT PDP1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000378415.2 + ENST00000297598.4 5'UTR SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ BAI2 576 broad.mit.edu 37 1 32204531 32204532 + Silent DNP GC GC AT TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr1:32204531_32204532GC>AT ENST00000527361.1 - 14.0 2539_2540 c.2502_2503GC>AT c.(2500-2505)ccGCtg>ccATtg p.834_835PL>PL BAI2_ENST00000373658.3_Silent_p.834_835PL>PL|BAI2_ENST00000440175.2_Silent_p.476_477PL>PL|BAI2_ENST00000398556.3_Silent_p.782_783PL>PL|BAI2_ENST00000398538.1_Silent_p.822_823PL>PL|BAI2_ENST00000257070.4_Silent_p.834_835PL>PL|BAI2_ENST00000398547.1_Silent_p.767_768PL>PL|BAI2_ENST00000373655.2_Silent_p.834_835PL>PL|BAI2_ENST00000398542.1_Silent_p.767_768PL>PL O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 834.0 G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) 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) 55.0 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GTGACGGCCAGCGGGGGCCTGC 0.634 0 SO:0001819 synonymous_variant AB005298 CCDS72746.1, CCDS72747.1 1p35 2014-08-08 ENSG00000121753 ENSG00000121753 576.0 576.0 """-"", ""GPCR / Class B : Orphans""" 944.0 protein-coding gene gene with protein product 602683.0 9533023 Standard NM_001703 XM_006710783 Approved uc001btn.3 O60241 OTTHUMG00000003885 ENST00000527361.1:c.2502_2503delinsAT 1.__UNKNOWN__:g.32204531_32204532delinsAT B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9 __UNKNOWN__ BAI2-014 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000381841.1 - ENST00000527361.1 Silent DNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ FAM207A 85395 broad.mit.edu 37 21 46393157 46393157 + Silent SNP C C T TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr21:46393157C>T ENST00000397826.3 + 5.0 547 c.501C>T c.(499-501)agC>agT p.S167S FAM207A_ENST00000291634.6_Silent_p.S182S|FAM207A_ENST00000479127.1_3'UTR Q9NSI2 F207A_HUMAN family with sequence similarity 207, member A 182.0 GCCGGATGAGCGCAGCCCAGA 0.627 0 C 0,4406 0,0,2203 64.0 65.0 65.0 546 -3.3 0.0 21 65.0 1,8597 1.2+/-3.3 0,1,4298 no coding-synonymous FAM207A NM_058190.2 0,1,6501 TT,TC,CC 0.0116,0.0,0.0077 182/231 46393157.0 1,13003 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant CCDS13718.1 21q22.3 2011-08-15 2011-08-15 2011-08-15 ENSG00000160256 ENSG00000160256 85395.0 85395.0 15811.0 protein-coding gene gene with protein product """chromosome 21 open reading frame 70""" C21orf70 Standard NM_058190 NM_058190 Approved PRED56 uc002zgl.3 Q9NSI2 OTTHUMG00000090293 ENST00000397826.3:c.501C>T 21.__UNKNOWN__:g.46393157C>T __UNKNOWN__ FAM207A-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000206638.1 + ENST00000397826.3 Silent SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ BPTF 2186 broad.mit.edu 37 17 65850649 65850649 + Missense_Mutation SNP C C T TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr17:65850649C>T ENST00000306378.6 + 2.0 1267 c.1207C>T c.(1207-1209)Ctt>Ttt p.L403F BPTF_ENST00000335221.5_Missense_Mutation_p.L403F|BPTF_ENST00000321892.4_Missense_Mutation_p.L403F|BPTF_ENST00000424123.3_Missense_Mutation_p.L264F NM_182641.3 NP_872579.2 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 403.0 anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589) sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) 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) 78.0 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) TGGGGATTTGCTTTGCTGTGA 0.453 0 292.0 276.0 281.0 17 65850649.0 2203.0 4300.0 6503.0 SO:0001583 missense AY282495 CCDS11673.1 17q24 2013-01-28 2006-12-01 2006-12-01 ENSG00000171634 ENSG00000171634 2186.0 2186.0 """Zinc fingers, PHD-type""" 3581.0 protein-coding gene gene with protein product 601819.0 """fetal Alzheimer antigen""" FALZ 8975731, 10662542, 16728976 Standard NM_182641, NM_004459 NM_182641 Approved FAC1, NURF301 uc002jgf.3 Q12830 OTTHUMG00000132254 ENST00000306378.6:c.1207C>T 17.__UNKNOWN__:g.65850649C>T ENSP00000307208:p.Leu403Phe Q6NX67|Q7Z7D6|Q9UIG2 __UNKNOWN__ CCDS11673.1 . . . . . . . . . . C 18.15 3.558812 0.65538 . . ENSG00000171634 ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778 T;T;T 0.55234 0.53;0.53;0.53 5.62 5.62 0.85841 Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1); . . . . T 0.79969 0.4538 M 0.90922 3.16 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.999;0.997;0.997 D 0.84040 0.0364 9 0.87932 D 0 . 19.6584 0.95853 0.0:1.0:0.0:0.0 . 403;403;403 Q12830;Q12830-2;Q12830-4 BPTF_HUMAN;.;. F 308;403;403;403;264 ENSP00000307208:L403F;ENSP00000334351:L403F;ENSP00000315454:L403F ENSP00000307208:L403F L + 1 0 BPTF 63281111 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 7.818000 0.86416 2.646000 0.89796 0.655000 0.94253 CTT BPTF-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000255334.2 + ENST00000306378.6 Missense_Mutation SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ DENND4A 10260 broad.mit.edu 37 15 65962141 65962141 + Missense_Mutation SNP A A C TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr15:65962141A>C ENST00000431932.2 - 26.0 4839 c.4631T>G c.(4630-4632)gTt>gGt p.V1544G DENND4A_ENST00000443035.3_Missense_Mutation_p.V1587G NM_005848.3 NP_005839.3 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 1544.0 positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112) 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) 51.0 ATTCCCTTGAACAGAGAGAGC 0.338 0 89.0 82.0 84.0 15 65962141.0 1861.0 4108.0 5969.0 SO:0001583 missense AF534403 CCDS45285.1, CCDS53949.1 15q22.31 2012-10-03 2006-01-27 2006-01-27 10260.0 10260.0 """DENN/MADD domain containing""" 24321.0 protein-coding gene gene with protein product 600382.0 """c-myc promoter binding protein""" MYCPBP 8056341, 12906859 Standard NM_005848 NM_005848 Approved IRLB uc002api.3 Q7Z401 ENST00000431932.2:c.4631T>G 15.__UNKNOWN__:g.65962141A>C ENSP00000396830:p.Val1544Gly E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93 __UNKNOWN__ CCDS45285.1 . . . . . . . . . . A 9.134 1.012126 0.19277 . . ENSG00000174485 ENST00000443035;ENST00000431932 T;T 0.05199 3.48;3.48 5.64 3.31 0.37934 . 1.201840 0.05779 N 0.608229 T 0.06050 0.0157 L 0.44542 1.39 0.53005 D 0.999965 P;B 0.35077 0.483;0.146 B;B 0.27887 0.084;0.038 T 0.36138 -0.9760 10 0.23302 T 0.38 . 5.7442 0.18110 0.7105:0.1406:0.149:0.0 . 1587;1544 E7EPL3;Q7Z401 .;MYCPP_HUMAN G 1587;1544 ENSP00000391167:V1587G;ENSP00000396830:V1544G ENSP00000396830:V1544G V - 2 0 DENND4A 63749195 1.000000 0.71417 0.983000 0.44433 0.841000 0.47740 2.232000 0.43018 0.980000 0.38523 0.528000 0.53228 GTT DENND4A-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000419611.1 - ENST00000431932.2 Missense_Mutation SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ UNC79 57578 broad.mit.edu 37 14 94110024 94110024 + Missense_Mutation SNP A A G TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr14:94110024A>G ENST00000256339.4 + 35.0 6266 c.5611A>G c.(5611-5613)Atc>Gtc p.I1871V UNC79_ENST00000393151.2_Missense_Mutation_p.I2048V|UNC79_ENST00000555664.1_Missense_Mutation_p.I2009V|UNC79_ENST00000553484.1_Missense_Mutation_p.I2070V NM_020818.3 NP_065869.3 Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2048.0 behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118.0 GCTGCTGGATATCATGCAGTC 0.458 A 1.0 0.0005 0.002 2184.0 1.0 , , 0.0003 0.0005 1.0 LOWCOV,EXOME 0.0112 SNP 0 143.0 130.0 135.0 14 94110024.0 2203.0 4300.0 6503.0 SO:0001583 missense AB037830 CCDS9911.2 14q32.13 2011-08-18 2011-08-18 2011-08-18 ENSG00000133958 ENSG00000133958 57578.0 57578.0 19966.0 protein-coding gene gene with protein product """KIAA1409""" KIAA1409 20714347, 21040849 Standard XM_028395 NM_020818 Approved uc001ybs.1 Q9P2D8 OTTHUMG00000029783 ENST00000256339.4:c.5611A>G 14.__UNKNOWN__:g.94110024A>G ENSP00000256339:p.Ile1871Val B5MDL6|Q6ZUT7 __UNKNOWN__ CCDS9911.2 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 A 22.8 4.332284 0.81801 . . ENSG00000133958 ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153 T;T;T;T 0.34275 1.37;1.37;1.37;1.37 5.86 5.86 0.93980 . 0.000000 0.85682 D 0.000000 T 0.60196 0.2250 M 0.72118 2.19 0.53688 D 0.999972 B 0.31837 0.342 P 0.54026 0.74 T 0.59799 -0.7386 10 0.51188 T 0.08 -20.2907 16.2526 0.82494 1.0:0.0:0.0:0.0 . 2070 C9JQL1 . V 1871;2009;2070;2048;2070 ENSP00000256339:I1871V;ENSP00000450868:I2009V;ENSP00000451360:I2070V;ENSP00000376858:I2048V ENSP00000256339:I1871V I + 1 0 KIAA1409 93179777 1.000000 0.71417 0.989000 0.46669 0.985000 0.73830 9.339000 0.96797 2.241000 0.73720 0.482000 0.46254 ATC UNC79-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000074288.2 + ENST00000256339.4 Missense_Mutation SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ TFIP11 24144 broad.mit.edu 37 22 26890809 26890809 + Missense_Mutation SNP C C A TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr22:26890809C>A ENST00000407690.1 - 13.0 2229 c.1946G>T c.(1945-1947)aGc>aTc p.S649I TFIP11_ENST00000405938.1_Missense_Mutation_p.S649I|TFIP11_ENST00000407431.1_Missense_Mutation_p.S649I|TFIP11_ENST00000407148.1_Missense_Mutation_p.S649I NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 649.0 biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008) DNA binding (GO:0003677) breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25.0 TCCCACCAGGCTAGAGACAGA 0.502 0 112.0 94.0 100.0 22 26890809.0 2203.0 4300.0 6503.0 SO:0001583 missense AL050258 CCDS13838.1 22q12.1 2013-01-28 ENSG00000100109 ENSG00000100109 24144.0 24144.0 """G patch domain containing""" 17165.0 protein-coding gene gene with protein product 612747.0 10806191, 11230166 Standard NM_001008697 NM_012143 Approved TIP39, DKFZP434B194, Spp382 uc003acs.2 Q9UBB9 OTTHUMG00000150883 ENST00000407690.1:c.1946G>T 22.__UNKNOWN__:g.26890809C>A ENSP00000384421:p.Ser649Ile O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8 __UNKNOWN__ CCDS13838.1 . . . . . . . . . . C 15.62 2.887785 0.52014 . . ENSG00000100109 ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938 T;T;T;T 0.41065 1.01;1.01;1.01;1.01 5.43 5.43 0.79202 GC-rich sequence DNA-binding factor domain (1); 0.077604 0.85682 D 0.000000 T 0.55481 0.1923 L 0.45228 1.405 0.80722 D 1 D 0.69078 0.997 D 0.72075 0.976 T 0.37056 -0.9722 10 0.16420 T 0.52 -42.2131 18.4159 0.90570 0.0:1.0:0.0:0.0 . 649 Q9UBB9 TFP11_HUMAN I 649;649;649;334;649 ENSP00000384421:S649I;ENSP00000383892:S649I;ENSP00000385861:S649I;ENSP00000384297:S649I ENSP00000384297:S649I S - 2 0 TFIP11 25220809 1.000000 0.71417 1.000000 0.80357 0.914000 0.54420 5.485000 0.66850 2.823000 0.97156 0.650000 0.86243 AGC TFIP11-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320750.1 - ENST00000407690.1 Missense_Mutation SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ RBM42 79171 broad.mit.edu 37 19 36124121 36124121 + Silent SNP G G T TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr19:36124121G>T ENST00000262633.4 + 6.0 756 c.651G>T c.(649-651)ccG>ccT p.P217P RBM42_ENST00000586618.1_Intron|RBM42_ENST00000592202.1_Silent_p.P163P|RBM42_ENST00000589559.1_Silent_p.P188P|RBM42_ENST00000588161.1_Silent_p.P187P|RBM42_ENST00000589871.1_Silent_p.P195P|RBM42_ENST00000360475.4_Silent_p.P188P NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 217.0 Pro-rich. cytoplasm (GO:0005737)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21.0 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CAGGGCCCCCGCTGGGCTCCA 0.687 0 43.0 53.0 50.0 19 36124121.0 2195.0 4297.0 6492.0 SO:0001819 synonymous_variant BC004204 CCDS12468.1 19q13.12 2013-02-12 ENSG00000126254 79171.0 79171.0 """RNA binding motif (RRM) containing""" 28117.0 protein-coding gene gene with protein product 613232.0 12477932 Standard NM_024321 NM_024321 Approved MGC10433 uc002oan.3 Q9BTD8 ENST00000262633.4:c.651G>T 19.__UNKNOWN__:g.36124121G>T O00320|Q8N5R7|Q9BU66 __UNKNOWN__ CCDS12468.1 RBM42-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459057.2 + ENST00000262633.4 Silent SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ MED12 9968 broad.mit.edu 37 X 70350001 70350001 + Missense_Mutation SNP T T A TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chrX:70350001T>A ENST00000374080.3 + 28.0 4016 c.3984T>A c.(3982-3984)caT>caA p.H1328Q MED12_ENST00000333646.6_Missense_Mutation_p.H1328Q|MED12_ENST00000374102.1_Missense_Mutation_p.H1328Q Q93074 MED12_HUMAN mediator complex subunit 12 1328.0 androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809) 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) 420.0 Renal(35;0.156) GCTATCCACATCGACTGCTGG 0.577 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome Dom yes X Xq13 9968.0 mediator complex subunit 12 Yes M 0 46.0 43.0 44.0 X 70350001.0 2021.0 4175.0 6196.0 SO:0001583 missense U80742 CCDS43970.1 Xq13 2011-02-14 2007-07-30 2004-11-26 ENSG00000184634 ENSG00000184634 9968.0 9968.0 11957.0 protein-coding gene gene with protein product 300188.0 """trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1""" TNRC11, FGS1 9225980, 10198638, 17334363, 20507344 Standard NM_005120 NM_005120 Approved CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS uc004dyy.3 Q93074 OTTHUMG00000021788 ENST00000374080.3:c.3984T>A X.__UNKNOWN__:g.70350001T>A ENSP00000363193:p.His1328Gln O15410|O75557|Q9UHV6|Q9UND7 __UNKNOWN__ CCDS43970.1 . . . . . . . . . . T 17.70 3.454787 0.63290 . . ENSG00000184634 ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750 D;D;D;D;T 0.83755 -1.76;-1.76;-1.76;-1.76;1.5 4.93 2.58 0.30949 . 0.051720 0.85682 D 0.000000 D 0.82779 0.5111 L 0.58101 1.795 0.50313 D 0.999868 P;P;P;P 0.52316 0.94;0.786;0.952;0.901 P;B;P;P 0.54499 0.583;0.407;0.754;0.476 T 0.80171 -0.1493 10 0.52906 T 0.07 -16.654 4.8897 0.13721 0.0:0.4664:0.0:0.5336 . 1328;1175;1328;1328 F5H3Y1;Q7Z3Z5;Q93074-3;Q93074 .;.;.;MED12_HUMAN Q 1328;1328;1328;1328;1296;73 ENSP00000333125:H1328Q;ENSP00000363215:H1328Q;ENSP00000363193:H1328Q;ENSP00000414203:H1296Q;ENSP00000408388:H73Q ENSP00000333125:H1328Q H + 3 2 MED12 70266726 1.000000 0.71417 1.000000 0.80357 0.978000 0.69477 0.820000 0.27323 0.805000 0.34159 0.441000 0.28932 CAT MED12-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000057105.1 + ENST00000374080.3 Missense_Mutation SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ ANAPC7 51434 broad.mit.edu 37 12 110825686 110825686 + Frame_Shift_Del DEL G G - TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr12:110825686delG ENST00000455511.3 - 5.0 634 c.634delC c.(634-636)cttfs p.L212fs RP11-478C19.2_ENST00000550231.1_RNA|ANAPC7_ENST00000450008.2_Frame_Shift_Del_p.L212fs NM_016238.2 NP_057322.2 Q9UJX3 APC7_HUMAN anaphase promoting complex subunit 7 212.0 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) protein phosphatase binding (GO:0019903) breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1) 19.0 TTTACAGAAAGGGACAACAAG 0.473 0 86.0 68.0 74.0 12 110825686.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant AF191340 CCDS9145.2, CCDS44971.1 12q13.12 2013-01-10 ENSG00000196510 ENSG00000196510 51434.0 51434.0 """Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing""" 17380.0 protein-coding gene gene with protein product 606949.0 Standard NM_016238 NM_016238 Approved APC7 uc001tqo.2 Q9UJX3 OTTHUMG00000157009 ENST00000455511.3:c.634delC 12.__UNKNOWN__:g.110825686delG ENSP00000394394:p.Leu212fs Q96AC4|Q96GF4|Q9BU24|Q9NT16 __UNKNOWN__ CCDS9145.2 ANAPC7-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000347075.3 - ENST00000455511.3 Frame_Shift_Del DEL PCPG-TCGA-RW-A688-Normal-SM-5EQFZ NF1 4763 broad.mit.edu 37 17 29496993 29496993 + Frame_Shift_Del DEL A A - TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr17:29496993delA ENST00000358273.4 + 5.0 947 c.564delA c.(562-564)gcafs p.A188fs NF1_ENST00000431387.4_Frame_Shift_Del_p.A188fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.A188fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 188.0 actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060) axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634) phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099) p.0?(8)|p.?(4) 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) 599.0 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) TGGATTGTGCAAAATTAAAAC 0.279 """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) yes Rec yes Neurofibromatosis type 1 17 17q12 4763.0 neurofibromatosis type 1 gene O 12 Whole gene deletion(8)|Unknown(4) soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2) 79.0 79.0 79.0 17 29496993.0 2203.0 4298.0 6501.0 SO:0001589 frameshift_variant Familial Cancer Database NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome CCDS11264.1, CCDS42292.1, CCDS45645.1 17q11.2 2014-09-17 2008-07-31 ENSG00000196712 ENSG00000196712 4763.0 4763.0 7765.0 protein-coding gene gene with protein product """neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease""" 613113.0 1715669 Standard NM_000267 NM_000267 Approved uc002hgg.3 P21359 OTTHUMG00000132871 ENST00000358273.4:c.564delA 17.__UNKNOWN__:g.29496993delA ENSP00000351015:p.Ala188fs O00662|Q14284|Q14930|Q14931|Q9UMK3 __UNKNOWN__ CCDS42292.1 NF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256351.2 + ENST00000358273.4 Frame_Shift_Del DEL PCPG-TCGA-RW-A688-Normal-SM-5EQFZ CTD-2503O16.4 0 bcgsc.ca 37 5 74226055 74226055 + RNA SNP A A G TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr5:74226055A>G ENST00000505200.1 - 0.0 335 CAGAAATAAAAAAGTTGATGG 0.373 0 ENST00000505200.1: 5.__UNKNOWN__:g.74226055A>G __UNKNOWN__ CTD-2503O16.4-001 KNOWN basic lincRNA lincRNA OTTHUMT00000370953.2 - ENST00000505200.1 lincRNA SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ HPS5 11234 bcgsc.ca 37 11 18320347 18320347 + Missense_Mutation SNP C C A TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr11:18320347C>A ENST00000531848.1 - 9.0 1169 c.814G>T c.(814-816)Gcc>Tcc p.A272S HPS5_ENST00000349215.3_Missense_Mutation_p.A386S|HPS5_ENST00000438420.2_Missense_Mutation_p.A272S|HPS5_ENST00000396253.3_Missense_Mutation_p.A272S Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 386.0 blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473) BLOC-2 complex (GO:0031084) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30.0 ACTCTGCTGGCAATGACAGAA 0.448 Hermansky-Pudlak syndrome 0 140.0 136.0 137.0 11 18320347.0 2199.0 4293.0 6492.0 SO:0001583 missense Familial Cancer Database HPS, HPS1-8 AB023234 CCDS7836.1, CCDS7837.1 11p14 2014-06-18 ENSG00000110756 ENSG00000110756 11234.0 11234.0 17022.0 protein-coding gene gene with protein product 607521 10231032, 10094488 Standard NM_181507 NM_181507 Approved uc001mod.1 Q9UPZ3 OTTHUMG00000166612 ENST00000531848.1:c.814G>T 11.__UNKNOWN__:g.18320347C>A ENSP00000431758:p.Ala272Ser A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0 __UNKNOWN__ . . . . . . . . . . C 1.782 -0.481787 0.04383 . . ENSG00000110756 ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848 T;T;T;T 0.55052 0.54;0.54;0.54;1.52 5.5 1.38 0.22167 . 0.424732 0.28533 N 0.015001 T 0.27629 0.0679 L 0.28115 0.83 0.24129 N 0.995776 B 0.13145 0.007 B 0.14578 0.011 T 0.06409 -1.0828 10 0.11485 T 0.65 . 0.7611 0.01007 0.2542:0.375:0.1217:0.2491 . 386 Q9UPZ3 HPS5_HUMAN S 272;272;386;272 ENSP00000379552:A272S;ENSP00000399590:A272S;ENSP00000265967:A386S;ENSP00000431758:A272S ENSP00000265967:A386S A - 1 0 HPS5 18276923 1.000000 0.71417 0.994000 0.49952 0.117000 0.20001 1.074000 0.30703 0.436000 0.26393 -0.136000 0.14681 GCC HPS5-003 PUTATIVE not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000390809.1 - ENST00000531848.1 Missense_Mutation SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ Unknown 0 bcgsc.ca 37 4 43589818 43589818 + RNA SNP G G A TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr4:43589818G>A RP11-324J13.2 (95258 upstream) : RN7SL691P (10740 downstream) TTTCAAATTGGTCTTACAAAA 0.388 0 SO:0001628 intergenic_variant 4.__UNKNOWN__:g.43589818G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ Unknown 0 bcgsc.ca 37 X 25212805 25212805 + RNA SNP A A G TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chrX:25212805A>G RN7SL91P (133749 upstream) : AC112778.1 (11681 downstream) GGGACTGATGATTTGCCGCTT 0.493 0 SO:0001628 intergenic_variant X.__UNKNOWN__:g.25212805A>G __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ ATF3 467 ucsc.edu 37 1 212788568 212788568 + Missense_Mutation SNP G G A TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr1:212788568G>A ENST00000341491.4 + 2.0 470 c.205G>A c.(205-207)Gac>Aac p.D69N ATF3_ENST00000366985.1_Missense_Mutation_p.D12N|ATF3_ENST00000336937.4_Missense_Mutation_p.D40N|ATF3_ENST00000366987.2_Missense_Mutation_p.D69N|ATF3_ENST00000492118.1_Intron|ATF3_ENST00000366983.1_Missense_Mutation_p.D69N 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 69.0 activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gluconeogenesis (GO:0006094)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6.0 OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933) Pseudoephedrine(DB00852) CACTGTCAGCGACAGACCCCT 0.547 0 57.0 56.0 57.0 1 212788568.0 2203.0 4300.0 6503.0 SO:0001583 missense L19871 CCDS1506.1, CCDS41464.1, CCDS55688.1, CCDS58059.1 1q32.3 2013-01-10 ENSG00000162772 ENSG00000162772 467.0 467.0 """basic leucine zipper proteins""" 785.0 protein-coding gene gene with protein product 603148 7515060 Standard NM_001674 NM_001674 Approved uc021pit.1 P18847 OTTHUMG00000036747 ENST00000341491.4:c.205G>A 1.__UNKNOWN__:g.212788568G>A ENSP00000344352:p.Asp69Asn Q5VTZ2|Q6ICQ9|Q7Z566|Q8WYM6 __UNKNOWN__ CCDS1506.1 . . . . . . . . . . G 13.00 2.106774 0.37145 . . ENSG00000162772 ENST00000366981;ENST00000366987;ENST00000341491;ENST00000366985;ENST00000366983;ENST00000336937 T;T;T;T;T;T 0.78364 0.52;0.52;0.52;-0.02;-0.12;-1.17 5.93 0.559 0.17272 . 0.785143 0.12518 N 0.461935 T 0.57388 0.2050 N 0.19112 0.55 0.31759 N 0.633553 B;B;B 0.31837 0.0;0.009;0.342 B;B;B 0.23275 0.0;0.002;0.045 T 0.52011 -0.8632 10 0.21540 T 0.41 -10.7626 9.3033 0.37858 0.3859:0.0:0.6141:0.0 . 69;69;69 Q7Z567;Q8WYM6;P18847 .;.;ATF3_HUMAN N 69;69;69;12;69;40 ENSP00000355948:D69N;ENSP00000355954:D69N;ENSP00000344352:D69N;ENSP00000355952:D12N;ENSP00000355950:D69N;ENSP00000336908:D40N ENSP00000336908:D40N D + 1 0 ATF3 210855191 1.000000 0.71417 0.832000 0.32986 0.485000 0.33311 2.825000 0.48096 -0.165000 0.10908 0.555000 0.69702 GAC ATF3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000089296.1 + ENST00000341491.4 Missense_Mutation SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ PCSK5 5125 ucsc.edu 37 9 78953358 78953358 + Missense_Mutation SNP G G A TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr9:78953358G>A ENST00000545128.1 + 34.0 5418 c.4880G>A c.(4879-4881)tGc>tAc p.C1627Y NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 1627.0 CRM (Cys-rich motif). anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058) extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141) peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55.0 TGTGATCAATGCAAAGGTGAG 0.478 0 51.0 44.0 46.0 9 78953358.0 876.0 1991.0 2867.0 SO:0001583 missense CCDS6652.1, CCDS55320.1 9q21.13 2013-09-24 ENSG00000099139 ENSG00000099139 5125.0 5125.0 8747.0 protein-coding gene gene with protein product 600488 7782070 Standard NM_001190482 Approved PC5, PC6, SPC6 uc004akc.2 Q92824 OTTHUMG00000020039 ENST00000545128.1:c.4880G>A 9.__UNKNOWN__:g.78953358G>A ENSP00000446280:p.Cys1627Tyr F5H2G7|Q13527|Q96EP4 __UNKNOWN__ CCDS55320.1 . . . . . . . . . . G 15.30 2.792540 0.50102 . . ENSG00000099139 ENST00000545128;ENST00000376754;ENST00000424854 T;T 0.74947 -0.89;-0.89 5.83 5.83 0.93111 . 0.000000 0.85682 D 0.000000 D 0.93077 0.7796 H 0.99379 4.54 0.58432 D 0.999999 . . . . . . D 0.95460 0.8542 8 0.66056 D 0.02 -19.8371 19.7325 0.96188 0.0:0.0:1.0:0.0 . . . . Y 1627;1357;1327 ENSP00000446280:C1627Y;ENSP00000411654:C1327Y ENSP00000365945:C1357Y C + 2 0 PCSK5 78143178 1.000000 0.71417 0.959000 0.39883 0.079000 0.17450 6.542000 0.73869 2.763000 0.94921 0.563000 0.77884 TGC PCSK5-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding + ENST00000545128.1 Missense_Mutation SNP PCPG-TCGA-RW-A688-Normal-SM-5EQFZ CDT1 81620 broad.mit.edu 37 16 88874571 88874571 + Missense_Mutation SNP G G C TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr16:88874571G>C ENST00000301019.4 + 10.0 2145 c.1526G>C c.(1525-1527)tGg>tCg p.W509S NM_030928.3 NP_112190.2 chromatin licensing and DNA replication factor 1 central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3) 7.0 BRCA - Breast invasive adenocarcinoma(80;0.0476) CTGCCGGACTGGCTCAGCCTC 0.672 Melanoma(159;511 3380 30971) 0 48.0 36.0 40.0 16 88874571.0 2195.0 4297.0 6492.0 SO:0001583 missense AF070552 CCDS32510.1 16q24.3 2014-08-12 ENSG00000167513 ENSG00000167513 81620.0 81620.0 24576.0 protein-coding gene gene with protein product 605525.0 11896191, 11555648 Standard NM_030928 NM_030928 Approved DUP, RIS2 uc002flu.3 Q9H211 OTTHUMG00000173467 ENST00000301019.4:c.1526G>C 16.__UNKNOWN__:g.88874571G>C ENSP00000301019:p.Trp509Ser __UNKNOWN__ CCDS32510.1 . . . . . . . . . . G 16.35 3.098140 0.56183 . . ENSG00000167513 ENST00000301019 T 0.79247 -1.25 5.54 4.58 0.56647 . 0.000000 0.85682 D 0.000000 D 0.89026 0.6598 M 0.87381 2.88 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.90856 0.4735 10 0.87932 D 0 . 14.2365 0.65929 0.0725:0.0:0.9275:0.0 . 509 Q9H211 CDT1_HUMAN S 509 ENSP00000301019:W509S ENSP00000301019:W509S W + 2 0 CDT1 87402072 1.000000 0.71417 0.993000 0.49108 0.047000 0.14425 8.647000 0.91057 1.343000 0.45638 0.563000 0.77884 TGG CDT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000423215.1 + ENST00000301019.4 Missense_Mutation SNP PCPG-TCGA-RW-A689-Normal-SM-5EQFU CHRNB2 1141 broad.mit.edu 37 1 154548321 154548321 + Silent SNP C C A TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr1:154548321C>A ENST00000368476.3 + 6.0 1686 c.1422C>A c.(1420-1422)acC>acA p.T474T NM_000748.2 NP_000739.1 P17787 ACHB2_HUMAN cholinergic receptor, nicotinic, beta 2 (neuronal) 474.0 action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601) acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276) cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3) 28.0 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184) TCTTTGGCACCATCGGCATGT 0.567 0 335.0 242.0 274.0 1 154548321.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U62437 CCDS1070.1 1q21.3 2012-02-11 2006-02-01 ENSG00000160716 ENSG00000160716 1141.0 1141.0 """Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic""" 1962.0 protein-coding gene gene with protein product """acetylcholine receptor, nicotinic, beta 2 (neuronal)""" 118507.0 """cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)""" 1505988 Standard NM_000748 NM_000748 Approved uc001ffg.3 P17787 OTTHUMG00000037262 ENST00000368476.3:c.1422C>A 1.__UNKNOWN__:g.154548321C>A Q9UEH9 __UNKNOWN__ CCDS1070.1 CHRNB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090697.1 + ENST00000368476.3 Silent SNP PCPG-TCGA-RW-A689-Normal-SM-5EQFU CMYA5 202333 broad.mit.edu 37 5 79032506 79032506 + Missense_Mutation SNP C C G TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr5:79032506C>G ENST00000446378.2 + 2.0 7949 c.7918C>G c.(7918-7920)Ctt>Gtt p.L2640V NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2640.0 negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733) costamere (GO:0043034) 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) 128.0 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) GCCGGTGGCTCTTTCTTGTCG 0.413 0 49.0 51.0 50.0 5 79032506.0 1810.0 4079.0 5889.0 SO:0001583 missense AW755254, AL831986 CCDS47238.1 5q14.1 2013-02-11 ENSG00000164309 ENSG00000164309 202333.0 202333.0 """Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing""" 14305.0 protein-coding gene gene with protein product """genethonin-3"", ""tripartite motif-containing 76""" 612193.0 """chromosome 5 open reading frame 10""" C5orf10 14688250 Standard NM_153610 NM_153610 Approved myospryn, SPRYD2, DKFZp451G223, TRIM76 uc003kgc.3 Q8N3K9 OTTHUMG00000162548 ENST00000446378.2:c.7918C>G 5.__UNKNOWN__:g.79032506C>G ENSP00000394770:p.Leu2640Val A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88 __UNKNOWN__ CCDS47238.1 . . . . . . . . . . C 10.57 1.388592 0.25118 . . ENSG00000164309 ENST00000446378 T 0.38887 1.11 4.15 1.22 0.21188 . . . . . T 0.34135 0.0887 N 0.17082 0.46 0.09310 N 1 D 0.63880 0.993 P 0.55923 0.787 T 0.11060 -1.0603 9 0.42905 T 0.14 . 3.3664 0.07204 0.2025:0.5714:0.0:0.2261 . 2640 Q8N3K9 CMYA5_HUMAN V 2640 ENSP00000394770:L2640V ENSP00000394770:L2640V L + 1 0 CMYA5 79068262 0.594000 0.26849 0.032000 0.17829 0.069000 0.16628 1.407000 0.34657 0.198000 0.20407 0.393000 0.25936 CTT CMYA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000369497.1 + ENST00000446378.2 Missense_Mutation SNP PCPG-TCGA-RW-A689-Normal-SM-5EQFU INPP4A 3631 broad.mit.edu 37 2 99170841 99170841 + Silent SNP G G A TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr2:99170841G>A ENST00000409016.4 + 16.0 1867 c.1470G>A c.(1468-1470)tcG>tcA p.S490S INPP4A_ENST00000074304.5_Silent_p.S490S|INPP4A_ENST00000409851.3_Silent_p.S485S|INPP4A_ENST00000545415.1_Silent_p.S490S|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000523221.1_Silent_p.S490S|INPP4A_ENST00000409540.3_Silent_p.S490S Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa 490.0 inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597) breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43.0 CTCCCACTTCGACTGAGGAGG 0.602 0 52.0 56.0 55.0 2 99170841.0 2177.0 4274.0 6451.0 SO:0001819 synonymous_variant U26398 CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1 2q11.2 2008-05-27 2002-08-29 ENSG00000040933 ENSG00000040933 3631.0 3631.0 6074.0 protein-coding gene gene with protein product 600916.0 """inositol polyphosphate-4-phosphatase, type I, 107kD""" INPP4 7608176, 9295334 Standard NM_001566 NM_004027 Approved uc002syy.3 Q96PE3 OTTHUMG00000153106 ENST00000409016.4:c.1470G>A 2.__UNKNOWN__:g.99170841G>A O15326|Q13187|Q53TD8|Q8TC02 __UNKNOWN__ CCDS46370.1 INPP4A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000329566.2 + ENST00000409016.4 Silent SNP PCPG-TCGA-RW-A689-Normal-SM-5EQFU GOLGA8DP 0 broad.mit.edu 37 15 22709637 22709637 + RNA SNP T T G rs140467724 by1000genomes TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr15:22709637T>G ENST00000314246.8 - 0.0 1147 Q0D2H9 GOG8D_HUMAN golgin A8 family, member D, pseudogene Golgi apparatus (GO:0005794) CCCATCTGGTTTTTGAGTTTG 0.547 0 15q11.2 2014-04-10 2011-04-15 2010-02-12 ENSG00000185182 ENSG00000185182 100132979.0 100132979.0 32376.0 pseudogene pseudogene """golgi autoantigen, golgin subfamily a, 8D""" GOLGA8D 12477932 Standard NR_027407 NR_027407 Approved uc010axw.2 Q0D2H9 OTTHUMG00000171882 ENST00000314246.8: 15.__UNKNOWN__:g.22709637T>G __UNKNOWN__ . . . . . . . . . . t 4.705 0.131021 0.08981 . . ENSG00000185182 ENST00000341390;ENST00000314246;ENST00000317692 . . . 0.921 0.921 0.19403 . . . . . T 0.23330 0.0564 . . . . . . B 0.10296 0.003 B 0.08055 0.003 T 0.20773 -1.0265 6 0.25751 T 0.34 . 4.1761 0.10353 0.0:0.0:0.0:1.0 . 84 F8WBT8 . H 84;84;302 . ENSP00000327024:N84H N - 1 0 AC116165.1 20261001 0.018000 0.18449 0.020000 0.16555 0.004000 0.04260 2.215000 0.42862 0.684000 0.31448 0.228000 0.17796 AAC GOLGA8DP-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000415613.1 - ENST00000314246.8 RNA SNP PCPG-TCGA-RW-A689-Normal-SM-5EQFU ANO3 63982 broad.mit.edu 37 11 26677925 26677925 + Missense_Mutation SNP A A G TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr11:26677925A>G ENST00000256737.3 + 26.0 3512 c.2660A>G c.(2659-2661)tAc>tGc p.Y887C ANO3_ENST00000525139.1_Missense_Mutation_p.Y871C|ANO3_ENST00000531568.1_Missense_Mutation_p.Y741C|ANO3_ENST00000537978.1_Missense_Mutation_p.Y871C NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 887.0 calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) phospholipid scramblase activity (GO:0017128) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68.0 GATTTCAGGTACAGAGACTAC 0.388 0 128.0 129.0 129.0 11 26677925.0 2203.0 4299.0 6502.0 SO:0001583 missense AJ300461 CCDS31447.1 11p14.2 2014-04-09 2008-08-28 2008-08-28 ENSG00000134343 ENSG00000134343 63982.0 63982.0 """Ion channels / Chloride channels : Calcium activated : Anoctamins""" 14004.0 protein-coding gene gene with protein product """transmembrane protein 16C (eight membrane-spanning domains)""" 610110.0 """chromosome 11 open reading frame 25"", ""transmembrane protein 16C""" C11orf25, TMEM16C 12739008, 15067359, 23200863, 24692353 Standard NM_031418 NM_031418 Approved GENX-3947, DYT23 uc001mqt.4 Q9BYT9 OTTHUMG00000166096 ENST00000256737.3:c.2660A>G 11.__UNKNOWN__:g.26677925A>G ENSP00000256737:p.Tyr887Cys B7Z3F5 __UNKNOWN__ CCDS31447.1 . . . . . . . . . . A 21.1 4.099000 0.76870 . . ENSG00000134343 ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568 D;D;D;D 0.86030 -2.05;-2.05;-2.06;-1.85 5.44 5.44 0.79542 . 0.000000 0.85682 D 0.000000 D 0.94258 0.8156 M 0.93808 3.46 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 D 0.95644 0.8701 10 0.87932 D 0 . 15.491 0.75605 1.0:0.0:0.0:0.0 . 789;887 B7Z7Y6;Q9BYT9 .;ANO3_HUMAN C 871;871;887;789;741 ENSP00000440737:Y871C;ENSP00000432576:Y871C;ENSP00000256737:Y887C;ENSP00000432394:Y741C ENSP00000256737:Y887C Y + 2 0 ANO3 26634501 1.000000 0.71417 1.000000 0.80357 0.877000 0.50540 9.335000 0.96500 2.056000 0.61249 0.528000 0.53228 TAC ANO3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000387806.1 + ENST00000256737.3 Missense_Mutation SNP PCPG-TCGA-RW-A689-Normal-SM-5EQFU SEC22B 9554 broad.mit.edu 37 1 145109547 145109547 + RNA SNP G G T TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr1:145109547G>T ENST00000453618.1 + 0.0 536 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) CAGGGGGTGTGTGATTTGGTT 0.403 0 350.0 339.0 342.0 1 145109547.0 2038.0 4194.0 6232.0 AF047442 1q21.1 2012-04-20 2010-03-12 2006-04-25 ENSG00000223380 9554.0 9554.0 10700.0 protein-coding gene gene with protein product 604029.0 """SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)""" SEC22L1 9094723, 16354670 Standard NM_004892 NM_004892 Approved sec22b, ERS-24 uc031poa.1 O75396 OTTHUMG00000013745 ENST00000453618.1: 1.__UNKNOWN__:g.145109547G>T A8K1G0 __UNKNOWN__ SEC22B-001 KNOWN basic processed_transcript processed_transcript OTTHUMT00000038523.5 + ENST00000453618.1 RNA SNP PCPG-TCGA-RW-A689-Normal-SM-5EQFU KLHL7 55975 broad.mit.edu 37 7 23207596 23207596 + Missense_Mutation SNP G G T TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr7:23207596G>T ENST00000339077.5 + 9.0 1562 c.1319G>T c.(1318-1320)gGa>gTa p.G440V KLHL7_ENST00000539124.1_Missense_Mutation_p.G364V|KLHL7_ENST00000545443.1_Missense_Mutation_p.G418V|KLHL7_ENST00000542558.1_Missense_Mutation_p.G215V|KLHL7_ENST00000322231.7_Missense_Mutation_p.G418V|KLHL7_ENST00000409689.1_Missense_Mutation_p.G392V NM_001031710.2 NP_001026880.2 Q8IXQ5 KLHL7_HUMAN kelch-like family member 7 440.0 protein ubiquitination (GO:0016567) Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) protein homodimerization activity (GO:0042803) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25.0 GGAAGTTTAGGAAACAATGTT 0.423 0 151.0 147.0 148.0 7 23207596.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1 7p15.3 2013-01-30 2013-01-30 ENSG00000122550 ENSG00000122550 55975.0 55975.0 """Kelch-like"", ""BTB/POZ domain containing""" 15646.0 protein-coding gene gene with protein product """retinitis pigmentosa 42""" 611119.0 """kelch-like 7 (Drosophila)""" 19520207 Standard NM_018846 NM_001031710 Approved KLHL6, SBBI26, RP42 uc003svs.4 Q8IXQ5 OTTHUMG00000094813 ENST00000339077.5:c.1319G>T 7.__UNKNOWN__:g.23207596G>T ENSP00000343273:p.Gly440Val A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9 __UNKNOWN__ CCDS34609.1 . . . . . . . . . . G 29.3 4.994336 0.93167 . . ENSG00000122550 ENST00000538858;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443 T;T;T;T;T;T 0.80033 -1.33;-1.33;-1.33;-1.33;-1.33;-1.33 5.69 5.69 0.88448 Kelch-type beta propeller (1); 0.000000 0.85682 D 0.000000 D 0.91828 0.7414 M 0.88105 2.93 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.87578 0.998;0.963 D 0.92698 0.6172 10 0.87932 D 0 . 19.813 0.96554 0.0:0.0:1.0:0.0 . 440;418 Q8IXQ5;Q8IXQ5-2 KLHL7_HUMAN;. V 281;418;440;364;215;392;418 ENSP00000322958:G418V;ENSP00000343273:G440V;ENSP00000441136:G364V;ENSP00000442367:G215V;ENSP00000386263:G392V;ENSP00000442366:G418V ENSP00000322958:G418V G + 2 0 KLHL7 23174121 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 9.476000 0.97823 2.683000 0.91414 0.591000 0.81541 GGA KLHL7-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000326860.3 + ENST00000339077.5 Missense_Mutation SNP PCPG-TCGA-RW-A689-Normal-SM-5EQFU RSRC2 65117 broad.mit.edu 37 12 122990196 122990196 + Nonsense_Mutation SNP G G A TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr12:122990196G>A ENST00000331738.7 - 10.0 1328 c.1183C>T c.(1183-1185)Cag>Tag p.Q395* RSRC2_ENST00000354654.2_Nonsense_Mutation_p.Q347*|RSRC2_ENST00000392442.2_5'UTR NM_023012.5 NP_075388.2 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 395.0 poly(A) RNA binding (GO:0044822) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24.0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) TCTTCCTGCTGCTTCAGAGTC 0.373 0 147.0 129.0 135.0 12 122990196.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AF161432 CCDS31920.1 12q24.31 2007-02-13 ENSG00000111011 ENSG00000111011 65117.0 65117.0 30559.0 protein-coding gene gene with protein product 17203224 Standard NM_023012 NM_023012 Approved FLJ11021 uc001ucr.3 Q7L4I2 OTTHUMG00000167572 ENST00000331738.7:c.1183C>T 12.__UNKNOWN__:g.122990196G>A ENSP00000330188:p.Gln395* Q6N040|Q6NW16|Q9H864 __UNKNOWN__ CCDS31920.1 . . . . . . . . . . G 34 5.367095 0.95900 . . ENSG00000111011 ENST00000331738;ENST00000354654 . . . 6.04 6.04 0.98038 . 0.048027 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 . 20.6396 0.99537 0.0:0.0:1.0:0.0 . . . . X 395;347 . ENSP00000330188:Q395X Q - 1 0 RSRC2 121556149 1.000000 0.71417 1.000000 0.80357 0.977000 0.68977 5.750000 0.68712 2.881000 0.98747 0.650000 0.86243 CAG RSRC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395096.3 - ENST00000331738.7 Nonsense_Mutation SNP PCPG-TCGA-RW-A689-Normal-SM-5EQFU WNT9B 7484 broad.mit.edu 37 17 44952701 44952701 + Missense_Mutation SNP C C A TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr17:44952701C>A ENST00000290015.2 + 3.0 622 c.569C>A c.(568-570)gCa>gAa p.A190E WNT9B_ENST00000393461.2_Missense_Mutation_p.A190E NM_003396.1 NP_003387.1 O14905 WNT9B_HUMAN wingless-type MMTV integration site family, member 9B 190.0 branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) frizzled binding (GO:0005109) large_intestine(2)|lung(8) 10.0 BRCA - Breast invasive adenocarcinoma(9;0.0257) CGGGCACGGGCAGACGCCCAC 0.607 0 48.0 41.0 43.0 17 44952701.0 2202.0 4299.0 6501.0 SO:0001583 missense AF028703 CCDS11506.1 17q21 2008-01-07 2003-03-11 2003-03-14 ENSG00000158955 7484.0 7484.0 """Wingless-type MMTV integration sites""" 12779.0 protein-coding gene gene with protein product 602864.0 """wingless-type MMTV integration site family, member 15""" WNT15 9441749, 11713592 Standard NM_003396 NM_003396 Approved WNT14B uc002ikw.1 O14905 ENST00000290015.2:c.569C>A 17.__UNKNOWN__:g.44952701C>A ENSP00000290015:p.Ala190Glu Q6UXT4|Q96Q09 __UNKNOWN__ CCDS11506.1 . . . . . . . . . . C 15.53 2.861065 0.51482 . . ENSG00000158955 ENST00000376843;ENST00000393461;ENST00000290015 T;T 0.76316 -1.01;-1.01 4.91 -0.966 0.10320 . 0.532611 0.21403 N 0.075107 T 0.64702 0.2622 L 0.29908 0.895 0.25575 N 0.986856 P;P 0.40302 0.712;0.523 B;B 0.41440 0.357;0.16 T 0.60342 -0.7282 10 0.87932 D 0 . 8.4209 0.32700 0.0:0.3391:0.0:0.6609 . 190;190 E7EPC3;O14905 .;WNT9B_HUMAN E 184;190;190 ENSP00000377105:A190E;ENSP00000290015:A190E ENSP00000290015:A190E A + 2 0 WNT9B 42307700 0.996000 0.38824 0.142000 0.22268 0.956000 0.61745 2.179000 0.42528 0.014000 0.14944 0.462000 0.41574 GCA WNT9B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000440433.1 + ENST00000290015.2 Missense_Mutation SNP PCPG-TCGA-RW-A689-Normal-SM-5EQFU BCL2L14 79370 broad.mit.edu 37 12 12240321 12240321 + Splice_Site SNP G G A TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr12:12240321G>A ENST00000308721.5 + 3.0 813 c.e3+1 BCL2L14_ENST00000396367.1_Splice_Site|BCL2L14_ENST00000396369.1_Splice_Site|BCL2L14_ENST00000266434.4_Splice_Site|BCL2L14_ENST00000589718.1_Splice_Site|BCL2L14_ENST00000586576.1_Splice_Site NM_138723.1 NP_620049.1 Q9BZR8 B2L14_HUMAN BCL2-like 14 (apoptosis facilitator) apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020) protein kinase binding (GO:0019901) large_intestine(1)|lung(2)|skin(3) 6.0 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) TCTAAGAAAGGTAAGCTTTCC 0.532 0 103.0 106.0 105.0 12 12240321.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AF281254 CCDS8645.1, CCDS8646.1 12p13-p12 2014-03-07 ENSG00000121380 ENSG00000121380 79370.0 79370.0 16657.0 protein-coding gene gene with protein product 606126.0 11054413 Standard NM_030766 NM_030766 Approved BCLG, BCL-G uc001rac.3 Q9BZR8 OTTHUMG00000159528 ENST00000308721.5:c.607+1G>A 12.__UNKNOWN__:g.12240321G>A A8KAD0|Q96QR5|Q9BZR7 __UNKNOWN__ CCDS8645.1 . . . . . . . . . . G 22.2 4.255525 0.80135 . . ENSG00000121380 ENST00000308721;ENST00000266434;ENST00000396369;ENST00000396367 . . . 3.41 3.41 0.39046 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 10.627 0.45512 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . BCL2L14 12131588 1.000000 0.71417 0.994000 0.49952 0.906000 0.53458 2.332000 0.43903 2.224000 0.72417 0.655000 0.94253 . BCL2L14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355994.3 Intron + ENST00000308721.5 Splice_Site SNP PCPG-TCGA-RW-A689-Normal-SM-5EQFU OAZ3 51686 broad.mit.edu 37 1 151739705 151739705 + Missense_Mutation SNP C C T TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr1:151739705C>T ENST00000479764.1 + 0.0 3378 OAZ3_ENST00000577465.1_3'UTR|OAZ3_ENST00000315067.8_Missense_Mutation_p.S33F|OAZ3_ENST00000321531.5_Missense_Mutation_p.S33F|OAZ3_ENST00000453029.2_Missense_Mutation_p.S46F|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000400999.1_5'UTR Q9UMX2 OAZ3_HUMAN ornithine decarboxylase antizyme 3 cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of polyamine transmembrane transport (GO:1902268)|polyamine biosynthetic process (GO:0006596)|positive regulation of protein catabolic process (GO:0045732)|putrescine transport (GO:0015847)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of phosphoprotein phosphatase activity (GO:0043666)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283) blood microparticle (GO:0072562)|cytosol (GO:0005829)|nucleus (GO:0005634)|sperm flagellum (GO:0036126) ornithine decarboxylase inhibitor activity (GO:0008073)|putrescine transmembrane transporter activity (GO:0015489) endometrium(2)|kidney(2)|large_intestine(1)|lung(4) 9.0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) L-Ornithine(DB00129) GCTCCTGAGTCCCTAGTAGGC 0.512 0 113.0 116.0 115.0 1 151739705.0 1917.0 4120.0 6037.0 SO:0001623 5_prime_UTR_variant AF175296 CCDS58028.1 1q21.3 2008-02-05 ENSG00000143450 ENSG00000143450 51686.0 51686.0 8097.0 protein-coding gene gene with protein product 605138.0 10781085 Standard NM_016178 NM_016178 Approved uc010pdm.2 Q9UMX2 OTTHUMG00000013061 ENST00000479764.1:c.-139C>T 1.__UNKNOWN__:g.151739705C>T E7EUE7|Q6GMR0 __UNKNOWN__ . . . . . . . . . . C 17.54 3.414280 0.62511 . . ENSG00000143450 ENST00000315067;ENST00000321531 T 0.35421 1.31 5.43 3.52 0.40303 . 0.366741 0.23949 N 0.042964 T 0.21550 0.0519 M 0.63843 1.955 0.33982 D 0.648068 B;P 0.52842 0.001;0.956 B;P 0.44732 0.003;0.459 T 0.12142 -1.0559 10 0.87932 D 0 -14.6055 6.5457 0.22404 0.1782:0.7322:0.0:0.0896 . 13;30 D3DV23;Q9UMX2 .;OAZ3_HUMAN F 33;77 ENSP00000357820:S33F ENSP00000357820:S33F S + 2 0 OAZ3 150006329 0.685000 0.27652 0.998000 0.56505 0.763000 0.43281 0.695000 0.25527 0.820000 0.34516 0.655000 0.94253 TCC OAZ3-001 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000036642.2 + ENST00000479764.1 5'UTR SNP PCPG-TCGA-RW-A689-Normal-SM-5EQFU EMR3 84658 broad.mit.edu 37 19 14752291 14752291 + Silent SNP C C T TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr19:14752291C>T ENST00000253673.5 - 10.0 1288 c.1188G>A c.(1186-1188)tcG>tcA p.S396S EMR3_ENST00000443157.2_Silent_p.S270S|EMR3_ENST00000344373.4_Silent_p.S344S|EMR3_ENST00000599900.1_Silent_p.S181S NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 396.0 G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50.0 AGAGGCAGAGCGAGAGCTGCA 0.587 C 1.0 0.0005 2184.0 0.0017 1.0 , , 0.0003 0.0005 1.0 LOWCOV,EXOME 0.0082 SNP 0 124.0 96.0 106.0 19 14752291.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF239764 CCDS12315.1, CCDS74296.1, CCDS74297.1 19p13.1 2014-08-08 ENSG00000131355 84658.0 84658.0 """-"", ""GPCR / Class B : Orphans""" 23647.0 protein-coding gene gene with protein product 606101.0 11279179, 12975309 Standard NM_032571 XM_005260118 Approved uc002mzi.4 Q9BY15 ENST00000253673.5:c.1188G>A 19.__UNKNOWN__:g.14752291C>T __UNKNOWN__ CCDS12315.1 EMR3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466488.1 - ENST00000253673.5 Silent SNP PCPG-TCGA-RW-A689-Normal-SM-5EQFU NF1 4763 broad.mit.edu 37 17 29588743 29588743 + Frame_Shift_Del DEL T T - TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr17:29588743delT ENST00000358273.4 + 35.0 4975 c.4592delT c.(4591-4593)gttfs p.V1531fs NF1_ENST00000356175.3_Frame_Shift_Del_p.V1510fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1531.0 actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060) axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634) phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099) p.0?(8)|p.?(4) 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) 599.0 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) CATAAAGCTGTTGGAAGACGA 0.408 """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) yes Rec yes Neurofibromatosis type 1 17 17q12 4763.0 neurofibromatosis type 1 gene O 12 Whole gene deletion(8)|Unknown(4) soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1) 122.0 107.0 112.0 17 29588743.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant Familial Cancer Database NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome CCDS11264.1, CCDS42292.1, CCDS45645.1 17q11.2 2014-09-17 2008-07-31 ENSG00000196712 ENSG00000196712 4763.0 4763.0 7765.0 protein-coding gene gene with protein product """neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease""" 613113.0 1715669 Standard NM_000267 NM_000267 Approved uc002hgg.3 P21359 OTTHUMG00000132871 ENST00000358273.4:c.4592delT 17.__UNKNOWN__:g.29588743delT ENSP00000351015:p.Val1531fs O00662|Q14284|Q14930|Q14931|Q9UMK3 __UNKNOWN__ CCDS42292.1 NF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256351.2 + ENST00000358273.4 Frame_Shift_Del DEL PCPG-TCGA-RW-A689-Normal-SM-5EQFU CDYL 9425 bcgsc.ca 37 6 4735010 4735010 + Missense_Mutation SNP G G A TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr6:4735010G>A ENST00000328908.5 + 3.0 249 c.118G>A c.(118-120)Ggg>Agg p.G40R Q9Y232 CDYL1_HUMAN chromodomain protein, Y-like 40.0 regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714) breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1) 30.0 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) AGCACCAGATGGGCCTTCAGA 0.562 0 82.0 80.0 81.0 6 4735010.0 2203.0 4300.0 6503.0 SO:0001583 missense AF081258 CCDS4491.2, CCDS47364.1 6p25.1 2010-05-04 2003-09-12 ENSG00000153046 ENSG00000153046 9425.0 9425.0 1811.0 protein-coding gene gene with protein product """CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein""" 603778 """chromodomain protein, Y chromosome-like""" 10192397 Standard NM_004824 NM_001143970 Approved DKFZP586C1622, CDYL1 uc003mwj.3 Q9Y232 OTTHUMG00000014170 ENST00000328908.5:c.118G>A 6.__UNKNOWN__:g.4735010G>A ENSP00000330512:p.Gly40Arg A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424 __UNKNOWN__ . . . . . . . . . . G 4.009 -0.001078 0.07819 . . ENSG00000153046 ENST00000328908 T 0.46063 0.88 1.2 0.201 0.15186 . . . . . T 0.10551 0.0258 . . . 0.09310 N 1 B 0.15719 0.014 B 0.06405 0.002 T 0.29640 -1.0005 8 0.44086 T 0.13 . 4.2687 0.10776 0.0:0.0:0.6053:0.3947 . 40 Q9Y232 CDYL1_HUMAN R 40 ENSP00000330512:G40R ENSP00000330512:G40R G + 1 0 CDYL 4680009 0.000000 0.05858 0.000000 0.03702 0.012000 0.07955 -0.400000 0.07241 0.042000 0.15717 0.591000 0.81541 GGG CDYL-001 KNOWN basic protein_coding protein_coding OTTHUMT00000039736.1 + ENST00000328908.5 Missense_Mutation SNP PCPG-TCGA-RW-A689-Normal-SM-5EQFU DAB2 1601 bcgsc.ca 37 5 39394425 39394425 + Missense_Mutation SNP C C A TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr5:39394425C>A ENST00000320816.6 - 0.0 465 DAB2_ENST00000545653.1_5'UTR|DAB2_ENST00000339788.6_5'UTR|DAB2_ENST00000509337.1_5'UTR NM_001343.3 NP_001334.2 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055) apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886) cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332) 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) 47.0 all_lung(31;0.000197) Epithelial(62;0.137) TTAGACATGGCAAGAAGGCAG 0.493 0 130.0 117.0 121.0 5 39394425.0 2203.0 4300.0 6503.0 SO:0001623 5_prime_UTR_variant U53446 CCDS34149.1, CCDS58946.1 5p13.1 2013-10-03 2013-03-08 ENSG00000153071 ENSG00000153071 1601.0 1601.0 2662.0 protein-coding gene gene with protein product 601236 """disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)""" 8660969, 9620555 Standard NM_001343 NM_001343 Approved DOC-2 uc003jlx.3 P98082 OTTHUMG00000162043 ENST00000320816.6:c.-3G>T 5.__UNKNOWN__:g.39394425C>A A6NES5|Q13598|Q9BTY0|Q9UK04 __UNKNOWN__ CCDS34149.1 DAB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367014.1 - ENST00000320816.6 5'UTR SNP PCPG-TCGA-RW-A689-Normal-SM-5EQFU PPT2 0 ucsc.edu 37 6 32125638 32125638 + Missense_Mutation SNP G G A TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr6:32125638G>A ENST00000324816.6 + 7.0 1215 c.647G>A c.(646-648)cGt>cAt p.R216H PPT2_ENST00000493548.1_Intron|PPT2_ENST00000375143.2_Missense_Mutation_p.R216H|PPT2_ENST00000361568.2_Missense_Mutation_p.R222H|PPT2-EGFL8_ENST00000422437.1_Missense_Mutation_p.R216H|PPT2_ENST00000445576.2_Missense_Mutation_p.R216H|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375137.2_Missense_Mutation_p.R216H|PPT2_ENST00000437001.2_Missense_Mutation_p.R93H|PPT2_ENST00000395523.1_Missense_Mutation_p.R216H Q9UMR5 PPT2_HUMAN palmitoyl-protein thioesterase 2 216.0 cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734) extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764) palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790) NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 17.0 AACTTTCTGCGTGTGGGCCAC 0.537 0 76.0 68.0 71.0 6 32125638.0 1509.0 2708.0 4217.0 SO:0001583 missense AF020543 CCDS4740.1, CCDS4742.1 6p21.3 2012-07-02 ENSG00000221988 ENSG00000221988 9374.0 9374.0 3.1.2.22 9326.0 protein-coding gene gene with protein product 603298 9341199, 10051407 Standard NM_138717 NM_138717 Approved uc003nzw.3 Q9UMR5 OTTHUMG00000031257 ENST00000324816.6:c.647G>A 6.__UNKNOWN__:g.32125638G>A ENSP00000320528:p.Arg216His A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945 __UNKNOWN__ CCDS4742.1 . . . . . . . . . . G 14.96 2.690962 0.48097 . . ENSG00000221988 ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000437001;ENST00000375137;ENST00000375143;ENST00000424499 D;D;D;D;D;D;D;D 0.96168 -3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93 5.74 4.88 0.63580 . 0.051607 0.64402 D 0.000001 D 0.88239 0.6383 M 0.62088 1.915 0.34229 D 0.676352 P;P;P 0.46912 0.854;0.886;0.886 B;B;B 0.29663 0.077;0.105;0.105 D 0.88583 0.3138 10 0.59425 D 0.04 -4.6425 11.1494 0.48449 0.0852:0.0:0.9148:0.0 . 216;216;222 Q9UMR5-2;Q9UMR5;B0S872 .;PPT2_HUMAN;. H 222;216;216;216;93;216;216;138 ENSP00000354608:R222H;ENSP00000378894:R216H;ENSP00000412381:R216H;ENSP00000320528:R216H;ENSP00000415350:R93H;ENSP00000364279:R216H;ENSP00000364285:R216H;ENSP00000409877:R138H ENSP00000320528:R216H R + 2 0 PPT2 32233616 0.958000 0.32768 0.878000 0.34440 0.708000 0.40852 3.949000 0.56668 1.571000 0.49722 0.563000 0.77884 CGT PPT2-207 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076552.4 + ENST00000324816.6 Missense_Mutation SNP PCPG-TCGA-RW-A689-Normal-SM-5EQFU TONSL 4796 hgsc.bcm.edu 37 8 145666374 145666374 + Missense_Mutation SNP C C A TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 C C . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr8:145666374C>A ENST00000409379.3 - 8.0 1015 c.986G>T c.(985-987)aGg>aTg p.R329M NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 329.0 cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297) cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634) histone binding (GO:0042393)|transcription corepressor activity (GO:0003714) biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26.0 CTCAGCTGCCCTGGGAAAGTC 0.647 0 93.0 92.0 92.0 8 145666374.0 2202.0 4300.0 6502.0 SO:0001583 missense CCDS34968.2 8q24.3 2013-01-10 2010-12-02 2010-11-30 ENSG00000160949 ENSG00000160949 4796.0 4796.0 """Ankyrin repeat domain containing""" 7801.0 protein-coding gene gene with protein product 604546 """nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2""" NFKBIL2 7738005, 11246458 Standard NM_013432 NM_013432 Approved IKBR uc011llg.2 Q96HA7 OTTHUMG00000153122 ENST00000409379.3:c.986G>T 8.__UNKNOWN__:g.145666374C>A ENSP00000386239:p.Arg329Met B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2 __UNKNOWN__ CCDS34968.2 . . . . . . . . . . C 15.16 2.752262 0.49362 . . ENSG00000160949 ENST00000409379;ENST00000422691 T 0.76578 -1.03 5.45 -1.21 0.09524 Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1); 0.348573 0.33005 N 0.005385 T 0.69043 0.3067 N 0.19112 0.55 0.29000 N 0.887539 D 0.56521 0.976 P 0.53185 0.72 T 0.68066 -0.5507 10 0.49607 T 0.09 -24.455 10.4186 0.44338 0.0:0.4758:0.0:0.5242 . 329 Q96HA7 TONSL_HUMAN M 329 ENSP00000386239:R329M ENSP00000386239:R329M R - 2 0 TONSL 145637182 0.962000 0.33011 0.886000 0.34754 0.603000 0.37013 0.641000 0.24720 -0.438000 0.07232 -0.367000 0.07326 AGG TONSL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000329668.2 - ENST00000409379.3 Missense_Mutation SNP PCPG-TCGA-RW-A689-Normal-SM-5EQFU BIRC6 57448 broad.mit.edu 37 2 32819095 32819095 + Missense_Mutation SNP C C T TCGA-RW-A68A-01A-11D-A35D-08 TCGA-RW-A68A-11A-21D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c75b0c-7a65-406a-ae3b-f43a03521386 7299d9a0-41b7-4e49-8b53-351166dcaad2 g.chr2:32819095C>T ENST00000421745.2 + 67.0 13603 c.13469C>T c.(13468-13470)gCa>gTa p.A4490V NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4490.0 apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712) endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802) acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842) 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) 172.0 Acute lymphoblastic leukemia(172;0.155) ATAGTTTATGCAGCCACCACC 0.388 Pancreas(94;175 1509 16028 18060 45422) 0 74.0 73.0 73.0 2 32819095.0 2203.0 4300.0 6503.0 SO:0001583 missense AF265555 CCDS33175.2 2p22.3 2011-01-25 2011-01-25 ENSG00000115760 ENSG00000115760 57448.0 57448.0 """Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2""" 13516.0 protein-coding gene gene with protein product """apollon""" 605638.0 """baculoviral IAP repeat-containing 6""" 10544019 Standard NM_016252 NM_016252 Approved BRUCE uc010ezu.3 Q9NR09 OTTHUMG00000150528 ENST00000421745.2:c.13469C>T 2.__UNKNOWN__:g.32819095C>T ENSP00000393596:p.Ala4490Val Q9ULD1 __UNKNOWN__ CCDS33175.2 . . . . . . . . . . C 17.21 3.330902 0.60853 . . ENSG00000115760 ENST00000421745 T 0.74632 -0.86 5.51 5.51 0.81932 . 0.172283 0.51477 D 0.000085 T 0.68760 0.3036 L 0.40543 1.245 0.51482 D 0.999922 B 0.16603 0.018 B 0.14023 0.01 T 0.62153 -0.6914 10 0.30078 T 0.28 . 19.4294 0.94758 0.0:1.0:0.0:0.0 . 4490 Q9NR09 BIRC6_HUMAN V 4490 ENSP00000393596:A4490V ENSP00000393596:A4490V A + 2 0 BIRC6 32672599 1.000000 0.71417 0.833000 0.33012 0.991000 0.79684 4.753000 0.62183 2.579000 0.87056 0.650000 0.86243 GCA BIRC6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318769.3 + ENST00000421745.2 Missense_Mutation SNP PCPG-TCGA-RW-A68A-Normal-SM-5EQHG ZNF365 22891 broad.mit.edu 37 10 64429987 64429987 + Silent SNP T T C TCGA-RW-A68A-01A-11D-A35D-08 TCGA-RW-A68A-11A-21D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c75b0c-7a65-406a-ae3b-f43a03521386 7299d9a0-41b7-4e49-8b53-351166dcaad2 g.chr10:64429987T>C ENST00000410046.3 + 8.0 1595 c.1315T>C c.(1315-1317)Ttg>Ctg p.L439L ZNF365_ENST00000395251.1_Silent_p.L193L|ZNF365_ENST00000395249.1_Silent_p.L45L NM_199451.2 NP_955523.1 Q70YC4 TALAN_HUMAN zinc finger protein 365 193.0 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27.0 Prostate(12;0.0297)|all_hematologic(501;0.228) AATCATCGATTTGTTGACTGA 0.428 0 267.0 264.0 265.0 10 64429987.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB020651 CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1 10q21.2 2008-10-28 ENSG00000138311 ENSG00000138311 22891.0 22891.0 """Zinc fingers, C2H2-type""" 18194.0 protein-coding gene gene with protein product """Talanin""" 607818.0 10048485, 12740763 Standard NM_014951 NM_199450 Approved KIAA0844, UAN uc001jmc.2 Q70YC4 OTTHUMG00000018302 ENST00000410046.3:c.1315T>C 10.__UNKNOWN__:g.64429987T>C __UNKNOWN__ CCDS7264.1 ZNF365-003 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000277038.1 + ENST00000410046.3 Silent SNP PCPG-TCGA-RW-A68A-Normal-SM-5EQHG HDAC4 9759 broad.mit.edu 37 2 239988460 239988460 + Silent SNP G G A TCGA-RW-A68A-01A-11D-A35D-08 TCGA-RW-A68A-11A-21D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c75b0c-7a65-406a-ae3b-f43a03521386 7299d9a0-41b7-4e49-8b53-351166dcaad2 g.chr2:239988460G>A ENST00000345617.3 - 24.0 3737 c.2946C>T c.(2944-2946)tgC>tgT p.C982C HDAC4_ENST00000543185.1_Silent_p.C566C NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 982.0 Histone deacetylase. B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351) A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018) activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62.0 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CCGAGGCGTCGCAAATGGCGG 0.637 G 1.0 0.0005 0.0028 2184.0 0.9999 , , 0.0003 0.0005 0.9181 EXOME 0.0037 SNP 0 80.0 77.0 78.0 2 239988460.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB006626 CCDS2529.1 2q37.3 2014-02-12 ENSG00000068024 ENSG00000068024 9759.0 9759.0 14063.0 protein-coding gene gene with protein product 605314.0 """brachydactyly-mental retardation syndrome""" BDMR 10206986, 10220385, 20691407 Standard NM_006037 NM_006037 Approved KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4 uc002vyk.4 P56524 OTTHUMG00000133344 ENST00000345617.3:c.2946C>T 2.__UNKNOWN__:g.239988460G>A Q9UND6 __UNKNOWN__ CCDS2529.1 1 4.578754578754579E-4 0 0.0 1 0.0027624309392265192 0 0.0 0 0.0 G 10.48 1.362474 0.24684 . . ENSG00000068024 ENST00000430200 . . . 4.21 -2.63 0.06133 . . . . . T 0.55721 0.1938 . . . 0.80722 D 1 . . . . . . T 0.53892 -0.8374 4 . . . . 11.2242 0.48873 0.576:0.0:0.424:0.0 . . . . V 73 . . A - 2 0 HDAC4 239653397 0.152000 0.22762 0.990000 0.47175 0.960000 0.62799 -0.456000 0.06754 -0.401000 0.07644 -0.469000 0.05056 GCG HDAC4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257174.2 - ENST00000345617.3 Silent SNP PCPG-TCGA-RW-A68A-Normal-SM-5EQHG KRTAP10-12 386685 broad.mit.edu 37 21 46117404 46117404 + Silent SNP C C T TCGA-RW-A68A-01A-11D-A35D-08 TCGA-RW-A68A-11A-21D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c75b0c-7a65-406a-ae3b-f43a03521386 7299d9a0-41b7-4e49-8b53-351166dcaad2 g.chr21:46117404C>T ENST00000400365.3 + 1.0 318 c.288C>T c.(286-288)acC>acT p.T96T TSPEAR_ENST00000323084.4_Intron NM_198699.1 NP_941972.1 P60413 KR10C_HUMAN keratin associated protein 10-12 96.0 19 X 5 AA repeats of C-C-X(3). keratin filament (GO:0045095) large_intestine(1)|lung(8) 9.0 CTTGCTGCACCTCCTCCCCCT 0.657 0 72.0 77.0 76.0 21 46117404.0 2203.0 4296.0 6499.0 SO:0001819 synonymous_variant AB076364 CCDS42967.1 21q22.3 2006-03-13 2004-07-12 2004-07-14 ENSG00000189169 ENSG00000189169 386685.0 386685.0 """Keratin associated proteins""" 20533.0 protein-coding gene gene with protein product """keratin associated protein 18-12""" KRTAP18-12 Standard NM_198699 NM_198699 Approved KRTAP18.12, KAP10.12 uc002zfw.1 P60413 OTTHUMG00000057629 ENST00000400365.3:c.288C>T 21.__UNKNOWN__:g.46117404C>T B2RPA3 __UNKNOWN__ CCDS42967.1 KRTAP10-12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000128032.1 + ENST00000400365.3 Silent SNP PCPG-TCGA-RW-A68A-Normal-SM-5EQHG SPHKAP 80309 broad.mit.edu 37 2 228883669 228883669 + Missense_Mutation SNP C C T TCGA-RW-A68A-01A-11D-A35D-08 TCGA-RW-A68A-11A-21D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c75b0c-7a65-406a-ae3b-f43a03521386 7299d9a0-41b7-4e49-8b53-351166dcaad2 g.chr2:228883669C>T ENST00000392056.3 - 7.0 1947 c.1901G>A c.(1900-1902)aGc>aAc p.S634N SPHKAP_ENST00000344657.5_Missense_Mutation_p.S634N NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 634.0 extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018) protein kinase A binding (GO:0051018) 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) 185.0 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) TCCAATGCTGCTGTAGGTATT 0.478 0 71.0 69.0 70.0 2 228883669.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS33389.1, CCDS46537.1 2q36.3 2010-08-20 ENSG00000153820 ENSG00000153820 80309.0 80309.0 """A-kinase anchor proteins""" 30619.0 protein-coding gene gene with protein product """sphingosine kinase type 1-interacting protein""" 611646.0 12080051, 11214970 Standard NM_030623 NM_030623 Approved SKIP uc002vpq.2 Q2M3C7 OTTHUMG00000153584 ENST00000392056.3:c.1901G>A 2.__UNKNOWN__:g.228883669C>T ENSP00000375909:p.Ser634Asn Q68DA3|Q68DR8|Q9C0I5 __UNKNOWN__ CCDS46537.1 . . . . . . . . . . C 5.347 0.249330 0.10130 . . ENSG00000153820 ENST00000392056;ENST00000344657 T;T 0.51574 0.7;0.7 5.54 2.75 0.32379 . 0.468148 0.26377 N 0.024724 T 0.35189 0.0923 L 0.58101 1.795 0.28871 N 0.894965 B;P 0.40834 0.002;0.73 B;B 0.32980 0.002;0.156 T 0.29427 -1.0012 10 0.38643 T 0.18 . 6.1718 0.20421 0.0:0.6348:0.1498:0.2155 . 634;634 Q2M3C7;Q2M3C7-2 SPKAP_HUMAN;. N 634 ENSP00000375909:S634N;ENSP00000339886:S634N ENSP00000339886:S634N S - 2 0 SPHKAP 228591913 0.971000 0.33674 0.028000 0.17463 0.007000 0.05969 0.785000 0.26830 0.814000 0.34374 -0.872000 0.02987 AGC SPHKAP-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000331750.1 - ENST00000392056.3 Missense_Mutation SNP PCPG-TCGA-RW-A68A-Normal-SM-5EQHG FAM65C 140876 broad.mit.edu 37 20 49247340 49247340 + Silent SNP G G A TCGA-RW-A68A-01A-11D-A35D-08 TCGA-RW-A68A-11A-21D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c75b0c-7a65-406a-ae3b-f43a03521386 7299d9a0-41b7-4e49-8b53-351166dcaad2 g.chr20:49247340G>A ENST00000327979.2 - 2.0 456 c.45C>T c.(43-45)gcC>gcT p.A15A FAM65C_ENST00000045083.2_Silent_p.A15A|FAM65C_ENST00000535356.1_Silent_p.A19A Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 15.0 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29.0 CGACCCCCACGGCCCCTGTGT 0.657 0 G 0,4404 0,0,2202 28.0 23.0 25.0 45 -4.4 0.5 20 25.0 1,8599 0,1,4299 no coding-synonymous FAM65C NM_080829.2 0,1,6501 AA,AG,GG 0.0116,0.0,0.0077 15/947 49247340.0 1,13003 2202.0 4300.0 6502.0 SO:0001819 synonymous_variant AL133230 CCDS13431.2 20q13.13 2011-11-24 2008-06-13 2008-06-13 ENSG00000042062 ENSG00000042062 140876.0 140876.0 16168.0 protein-coding gene gene with protein product """chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176""" C20orf175, C20orf176 Standard XM_005260294 Approved dJ530I15.2, dJ530I15.3 uc002xvm.3 Q96MK2 OTTHUMG00000032724 ENST00000327979.2:c.45C>T 20.__UNKNOWN__:g.49247340G>A Q5QPB6|Q9NQQ2 __UNKNOWN__ CCDS13431.2 FAM65C-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257962.1 - ENST00000327979.2 Silent SNP PCPG-TCGA-RW-A68A-Normal-SM-5EQHG MUC17 140453 broad.mit.edu 37 7 100677614 100677614 + Missense_Mutation SNP A A C TCGA-RW-A68A-01A-11D-A35D-08 TCGA-RW-A68A-11A-21D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c75b0c-7a65-406a-ae3b-f43a03521386 7299d9a0-41b7-4e49-8b53-351166dcaad2 g.chr7:100677614A>C ENST00000306151.4 + 3.0 2981 c.2917A>C c.(2917-2919)Ata>Cta p.I973L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 973.0 59 X approximate tandem repeats.|Ser-rich. cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) 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) 343.0 Lung NSC(181;0.136)|all_lung(186;0.182) AGGTACCAGCATACCAACCTC 0.507 0 349.0 325.0 333.0 7 100677614.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453.0 140453.0 """Mucins""" 16800.0 protein-coding gene gene with protein product 608424.0 11855812 Standard NM_001040105 NM_001040105 Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.2917A>C 7.__UNKNOWN__:g.100677614A>C ENSP00000302716:p.Ile973Leu O14761|Q685J2|Q8TDH7 __UNKNOWN__ CCDS34711.1 . . . . . . . . . . T 0.008 -1.904547 0.00512 . . ENSG00000169876 ENST00000306151 T 0.02236 4.38 1.08 -0.208 0.13185 . . . . . T 0.01061 0.0035 N 0.08118 0 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.48581 -0.9023 9 0.07813 T 0.8 . 4.3811 0.11295 0.771:0.0:0.229:0.0 . 973 Q685J3 MUC17_HUMAN L 973 ENSP00000302716:I973L ENSP00000302716:I973L I + 1 0 MUC17 100464334 0.000000 0.05858 0.001000 0.08648 0.002000 0.02628 -1.379000 0.02554 -0.044000 0.13491 0.113000 0.15668 ATA MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347161.1 + ENST00000306151.4 Missense_Mutation SNP PCPG-TCGA-RW-A68A-Normal-SM-5EQHG FBXW2 0 broad.mit.edu 37 9 123550425 123550425 + Missense_Mutation SNP C C T TCGA-RW-A68A-01A-11D-A35D-08 TCGA-RW-A68A-11A-21D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c75b0c-7a65-406a-ae3b-f43a03521386 7299d9a0-41b7-4e49-8b53-351166dcaad2 g.chr9:123550425C>T ENST00000608872.1 - 3.0 299 c.112G>A c.(112-114)Gca>Aca p.A38T FBXW2_ENST00000340778.5_Missense_Mutation_p.A38T NM_012164.3 NP_036296.2 Q9UKT8 FBXW2_HUMAN F-box and WD repeat domain containing 2 38.0 cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508) cytoplasm (GO:0005737) ubiquitin-protein transferase activity (GO:0004842) ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 4.0 AGCTGGACTGCCCCACTCAGA 0.443 0 60.0 59.0 59.0 9 123550425.0 1866.0 4114.0 5980.0 SO:0001583 missense AF129531 CCDS43872.1 9q34 2013-01-09 2007-02-08 ENSG00000119402 ENSG00000119402 26190.0 """F-boxes / WD-40 domains"", ""WD repeat domain containing""" 13608.0 protein-coding gene gene with protein product 609071.0 """F-box and WD-40 domain protein 2""" 10531035, 10828603 Standard NM_012164 Approved FBW2, Md6, Fwd2 uc004bkm.1 Q9UKT8 OTTHUMG00000020576 ENST00000608872.1:c.112G>A 9.__UNKNOWN__:g.123550425C>T ENSP00000476369:p.Ala38Thr B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3 __UNKNOWN__ CCDS43872.1 . . . . . . . . . . C 21.0 4.086282 0.76642 . . ENSG00000119402 ENST00000373926;ENST00000340778;ENST00000444833 T;T 0.80214 0.29;-1.35 5.95 5.95 0.96441 . 0.000000 0.85682 D 0.000000 T 0.82222 0.4990 N 0.24115 0.695 0.80722 D 1 D;D;P 0.67145 0.996;0.97;0.948 D;P;P 0.79784 0.993;0.665;0.487 T 0.76386 -0.2978 10 0.12430 T 0.62 -5.565 17.887 0.88858 0.0:1.0:0.0:0.0 . 38;38;38 Q9UKT8-2;B2RAW3;Q9UKT8 .;.;FBXW2_HUMAN T 38 ENSP00000363036:A38T;ENSP00000341161:A38T ENSP00000341161:A38T A - 1 0 FBXW2 122590246 1.000000 0.71417 1.000000 0.80357 1.000000 0.99986 5.820000 0.69250 2.824000 0.97209 0.655000 0.94253 GCA FBXW2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053834.2 - ENST00000608872.1 Missense_Mutation SNP PCPG-TCGA-RW-A68A-Normal-SM-5EQHG EFCC1 79825 broad.mit.edu 37 3 128755824 128755824 + Missense_Mutation SNP A A T TCGA-RW-A68A-01A-11D-A35D-08 TCGA-RW-A68A-11A-21D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c75b0c-7a65-406a-ae3b-f43a03521386 7299d9a0-41b7-4e49-8b53-351166dcaad2 g.chr3:128755824A>T ENST00000480450.1 + 6.0 1454 c.1454A>T c.(1453-1455)gAg>gTg p.E485V EFCC1_ENST00000436022.2_Missense_Mutation_p.E48V Q9HA90 EFCC1_HUMAN EF-hand and coiled-coil domain containing 1 485.0 calcium ion binding (GO:0005509) TCCCAGGCAGAGTTGCAGCAG 0.602 0 67.0 71.0 70.0 3 128755824.0 2203.0 4300.0 6503.0 SO:0001583 missense AK022119 CCDS3054.1, CCDS3054.2 3q21.3 2013-01-11 2013-01-11 2013-01-11 ENSG00000114654 ENSG00000114654 79825.0 79825.0 """EF-hand domain containing""" 25692.0 protein-coding gene gene with protein product """chromosome 3 open reading frame 73"", ""coiled-coil domain containing 48""" C3orf73, CCDC48 Standard NM_024768 NM_024768 Approved FLJ12057 uc011bkt.2 Q9HA90 OTTHUMG00000158996 ENST00000480450.1:c.1454A>T 3.__UNKNOWN__:g.128755824A>T ENSP00000420075:p.Glu485Val A8MYE2 __UNKNOWN__ CCDS3054.2 . . . . . . . . . . A 15.81 2.943642 0.53079 . . ENSG00000114654 ENST00000480450;ENST00000436022 T;T 0.59083 0.29;0.38 4.19 1.63 0.23807 . 0.149716 0.39834 N 0.001249 T 0.63710 0.2534 M 0.65975 2.015 0.41564 D 0.98864 D 0.58268 0.982 P 0.54815 0.761 T 0.64202 -0.6463 10 0.87932 D 0 . 9.1631 0.37035 0.6448:0.3552:0.0:0.0 . 485 Q9HA90 CCD48_HUMAN V 485;48 ENSP00000420075:E485V;ENSP00000414597:E48V ENSP00000414597:E48V E + 2 0 CCDC48 130238514 1.000000 0.71417 0.995000 0.50966 0.512000 0.34134 4.077000 0.57598 0.132000 0.18615 0.383000 0.25322 GAG EFCC1-001 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000352832.1 + ENST00000480450.1 Missense_Mutation SNP PCPG-TCGA-RW-A68A-Normal-SM-5EQHG AEN 64782 ucsc.edu 37 15 89173335 89173335 + Missense_Mutation SNP T T C TCGA-RW-A68A-01A-11D-A35D-08 TCGA-RW-A68A-11A-21D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 21c75b0c-7a65-406a-ae3b-f43a03521386 7299d9a0-41b7-4e49-8b53-351166dcaad2 g.chr15:89173335T>C ENST00000332810.3 + 4.0 939 c.788T>C c.(787-789)aTg>aCg p.M263T AEN_ENST00000379231.3_Missense_Mutation_p.M263T NM_022767.3 NP_073604.3 Q8WTP8 AEN_HUMAN apoptosis enhancing nuclease 263.0 Exonuclease. intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212) nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676) NS(1)|kidney(1)|large_intestine(1)|lung(4) 7.0 ACGACAGCCATGGAGCTCTAC 0.612 0 56.0 56.0 56.0 15 89173335.0 2200.0 4299.0 6499.0 SO:0001583 missense BC020988 CCDS10344.1 15q26.1 2008-07-15 2008-07-15 2008-07-15 ENSG00000181026 ENSG00000181026 64782.0 64782.0 25722.0 protein-coding gene gene with protein product 610177 """interferon stimulated exonuclease gene 20kDa-like 1""" ISG20L1 18264133, 16171785 Standard NM_022767 NM_022767 Approved FLJ12484, FLJ12562 uc002bmt.2 Q8WTP8 OTTHUMG00000148681 ENST00000332810.3:c.788T>C 15.__UNKNOWN__:g.89173335T>C ENSP00000331944:p.Met263Thr C9J571|Q9BSA5|Q9H9X7 __UNKNOWN__ CCDS10344.1 . . . . . . . . . . T 17.92 3.507085 0.64410 . . ENSG00000181026 ENST00000332810;ENST00000379231 T;T 0.22539 1.95;1.95 5.76 5.76 0.90799 Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1); 0.239479 0.35772 N 0.002983 T 0.62744 0.2453 H 0.97611 4.04 0.53688 D 0.999979 D;D 0.89917 1.0;1.0 D;D 0.97110 0.999;1.0 T 0.77180 -0.2682 10 0.87932 D 0 -3.9152 15.228 0.73364 0.0:0.0:0.0:1.0 . 263;263 Q8WTP8-2;Q8WTP8 .;AEN_HUMAN T 263 ENSP00000331944:M263T;ENSP00000368533:M263T ENSP00000331944:M263T M + 2 0 AEN 86974339 1.000000 0.71417 1.000000 0.80357 0.387000 0.30353 5.786000 0.69006 2.192000 0.70111 0.533000 0.62120 ATG AEN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000309071.1 + ENST00000332810.3 Missense_Mutation SNP PCPG-TCGA-RW-A68A-Normal-SM-5EQHG ZNF335 63925 ucsc.edu 37 20 44586232 44586232 + Missense_Mutation SNP G G T TCGA-RW-A68A-01A-11D-A35D-08 TCGA-RW-A68A-11A-21D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 21c75b0c-7a65-406a-ae3b-f43a03521386 7299d9a0-41b7-4e49-8b53-351166dcaad2 g.chr20:44586232G>T ENST00000322927.2 - 17.0 2535 c.2435C>A c.(2434-2436)gCc>gAc p.A812D ZNF335_ENST00000426788.1_Missense_Mutation_p.A657D NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 812.0 brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51.0 Myeloproliferative disorder(115;0.0122) CACCTGCAGGGCTGTGCCCCC 0.617 0 52.0 47.0 49.0 20 44586232.0 2203.0 4300.0 6503.0 SO:0001583 missense AK026157 CCDS13389.1 20q13.12 2011-09-12 ENSG00000198026 ENSG00000198026 63925.0 63925.0 """Zinc fingers, C2H2-type""" 15807.0 protein-coding gene gene with protein product """NRC-interacting factor 1""" 610827 12215545, 19131338 Standard NM_022095 NM_022095 Approved bA465L10.2, NIF-1 uc002xqw.3 Q9H4Z2 OTTHUMG00000032637 ENST00000322927.2:c.2435C>A 20.__UNKNOWN__:g.44586232G>T ENSP00000325326:p.Ala812Asp B4DLG7|Q548D0|Q9H684 __UNKNOWN__ CCDS13389.1 . . . . . . . . . . G 24.6 4.544430 0.86022 . . ENSG00000198026 ENST00000322927;ENST00000243961;ENST00000426788 T;T 0.10860 2.96;2.83 5.26 5.26 0.73747 . 0.135690 0.48767 D 0.000166 T 0.15912 0.0383 L 0.27053 0.805 0.41461 D 0.988041 D;D 0.63046 0.992;0.986 P;P 0.57057 0.812;0.654 T 0.08027 -1.0742 10 0.19147 T 0.46 -25.2085 16.1908 0.81987 0.0:0.0:1.0:0.0 . 657;812 Q9H4Z2-2;Q9H4Z2 .;ZN335_HUMAN D 812;589;657 ENSP00000325326:A812D;ENSP00000397098:A657D ENSP00000243961:A589D A - 2 0 ZNF335 44019639 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 5.041000 0.64196 2.735000 0.93741 0.563000 0.77884 GCC ZNF335-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079553.1 - ENST00000322927.2 Missense_Mutation SNP PCPG-TCGA-RW-A68A-Normal-SM-5EQHG INO80E 283899 unc.edu 37 16 30016750 30016750 + Missense_Mutation SNP A A T TCGA-RW-A68A-01A-11D-A35D-08 TCGA-RW-A68A-11A-21D-A35B-08 Untested Somatic Phase_I WXS;RNA-Seq none Illumina HiSeq 21c75b0c-7a65-406a-ae3b-f43a03521386 7299d9a0-41b7-4e49-8b53-351166dcaad2 g.chr16:30016750A>T ENST00000563197.1 + 7.0 1739 c.722A>T c.(721-723)gAc>gTc p.D241V INO80E_ENST00000304516.7_Missense_Mutation_p.D202V|INO80E_ENST00000567705.1_Missense_Mutation_p.D224V NM_173618.1 NP_775889.1 Q8NBZ0 IN80E_HUMAN INO80 complex subunit E 241.0 DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634) endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 6.0 CTGGTGATCGACATCCCGGAG 0.657 OREG0023725 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 67.0 52.0 58.0 16 30016750.0 2196.0 4299.0 6495.0 SO:0001583 missense AK075133 CCDS10665.1 16p11.2 2011-07-06 2008-08-07 2008-08-07 ENSG00000169592 ENSG00000169592 283899.0 283899.0 """INO80 complex subunits""" 26905.0 protein-coding gene gene with protein product """coiled-coil domain containing 95""" CCDC95 16230350 Standard NM_173618 NM_173618 Approved FLJ90652 uc002dvg.1 Q8NBZ0 OTTHUMG00000132114 ENST00000563197.1:c.722A>T 16.__UNKNOWN__:g.30016750A>T ENSP00000457016:p.Asp241Val 814.0 Q6Y2K3 __UNKNOWN__ CCDS10665.1 . . . . . . . . . . A 3.821 -0.037817 0.07497 . . ENSG00000169592 ENST00000304516 . . . 5.28 4.18 0.49190 . 0.102768 0.64402 D 0.000004 T 0.66829 0.2829 L 0.46157 1.445 0.58432 D 0.999999 D 0.76494 0.999 D 0.80764 0.994 T 0.67277 -0.5711 9 0.87932 D 0 -5.3395 9.3625 0.38203 0.914:0.0:0.086:0.0 . 241 Q8NBZ0 IN80E_HUMAN V 241 . ENSP00000303977:D241V D + 2 0 INO80E 29924251 1.000000 0.71417 1.000000 0.80357 0.012000 0.07955 4.000000 0.57039 0.843000 0.35070 -0.441000 0.05720 GAC INO80E-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255156.2 + ENST00000563197.1 Missense_Mutation SNP PCPG-TCGA-RW-A68A-Normal-SM-5EQHG FBXO27 126433 broad.mit.edu 37 19 39522616 39522616 + Silent SNP G G A TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr19:39522616G>A ENST00000292853.4 - 2.0 371 c.252C>T c.(250-252)caC>caT p.H84H FBXO27_ENST00000600828.1_Silent_p.H84H|FBXO27_ENST00000509137.2_Silent_p.H84H NM_178820.3 NP_849142.1 Q8NI29 FBX27_HUMAN F-box protein 27 84.0 SCF ubiquitin ligase complex (GO:0019005) glycoprotein binding (GO:0001948) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2) 17.0 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) TGCGGGCGAGGTGCAGCAGCG 0.736 G 4.0 0.0018 0.002 2184.0 0.9991 , , 0.0004 0.004 0.0021 0.8077 EXOME 0.0037 SNP 0 G 1,4301 0,1,2150 8.0 9.0 9.0 252 -5.4 0.0 19 9.0 6,8340 0,6,4167 no coding-synonymous FBXO27 NM_178820.3 0,7,6317 AA,AG,GG 0.0719,0.0232,0.0553 84/284 39522616.0 7,12641 2151.0 4173.0 6324.0 SO:0001819 synonymous_variant AF436061 CCDS12527.1 19q13.2 2008-02-05 2004-06-15 ENSG00000161243 126433.0 126433.0 """F-boxes / ""other""""" 18753.0 protein-coding gene gene with protein product 609099.0 """F-box only protein 27""" 126433 Standard NM_178820 Approved Fbg5, Fbx27 uc002okh.3 Q8NI29 ENST00000292853.4:c.252C>T 19.__UNKNOWN__:g.39522616G>A Q96C87 __UNKNOWN__ CCDS12527.1 FBXO27-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000463281.1 - ENST00000292853.4 Silent SNP PCPG-TCGA-RW-A68B-Normal-SM-5EQGU THBS2 7058 broad.mit.edu 37 6 169650833 169650833 + Missense_Mutation SNP G G A rs142358231 TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr6:169650833G>A ENST00000366787.3 - 3.0 296 c.47C>T c.(46-48)aCg>aTg p.T16M NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 16.0 cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965) basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091) calcium ion binding (GO:0005509)|heparin binding (GO:0008201) 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) 111.0 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) CTCACCTTGCGTGCTGGGCCA 0.547 Esophageal Squamous(91;219 1934 18562 44706) 0 G MET/THR 1,4405 2.1+/-5.4 0,1,2202 58.0 48.0 51.0 47 1.1 0.0 6 dbSNP_134 51.0 0,8600 0,0,4300 no missense THBS2 NM_003247.2 81 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 possibly-damaging 16/1173 169650833.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense CCDS34574.1 6q27 2008-07-28 ENSG00000186340 ENSG00000186340 7058.0 7058.0 11786.0 protein-coding gene gene with protein product 188061.0 18455130 Standard NM_003247 NM_003247 Approved TSP2 uc003qwt.3 P35442 OTTHUMG00000045408 ENST00000366787.3:c.47C>T 6.__UNKNOWN__:g.169650833G>A ENSP00000355751:p.Thr16Met A6H8N1|A7E232|Q5RI52 __UNKNOWN__ CCDS34574.1 . . . . . . . . . . G 9.978 1.227448 0.22542 2.27E-4 0.0 ENSG00000186340 ENST00000366787;ENST00000435791 T 0.81078 -1.45 4.85 1.15 0.20763 . 0.365178 0.19202 U 0.120153 T 0.33147 0.0853 N 0.08118 0 0.09310 N 1 P 0.37370 0.592 B 0.24006 0.05 T 0.22521 -1.0214 10 0.39692 T 0.17 -0.8214 7.4172 0.27050 0.3384:0.0:0.6616:0.0 . 16 P35442 TSP2_HUMAN M 16 ENSP00000355751:T16M ENSP00000355751:T16M T - 2 0 THBS2 169392758 0.001000 0.12720 0.000000 0.03702 0.001000 0.01503 0.326000 0.19646 0.023000 0.15187 -0.126000 0.14955 ACG THBS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000105439.1 - ENST00000366787.3 Missense_Mutation SNP PCPG-TCGA-RW-A68B-Normal-SM-5EQGU F11R 50848 broad.mit.edu 37 1 160971131 160971131 + Missense_Mutation SNP A A G TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr1:160971131A>G ENST00000368026.6 - 2.0 351 c.77T>C c.(76-78)tTg>tCg p.L26S F11R_ENST00000537746.1_Missense_Mutation_p.L26S|F11R_ENST00000289779.3_3'UTR NM_016946.4 NP_058642.1 Q9Y624 JAM1_HUMAN F11 receptor 26.0 blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032) cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12.0 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) AACACTGCCCAATGCCAGGGA 0.542 0 66.0 62.0 64.0 1 160971131.0 2203.0 4300.0 6503.0 SO:0001583 missense AF111713 CCDS1213.1 1q21.2-q21.3 2013-01-29 2003-02-07 2003-02-14 ENSG00000158769 ENSG00000158769 50848.0 50848.0 """CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 14685.0 protein-coding gene gene with protein product 605721.0 """junctional adhesion molecule 1""" JAM1 10395639, 7646439 Standard NM_016946 NM_016946 Approved PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321 uc009wtt.3 Q9Y624 OTTHUMG00000028602 ENST00000368026.6:c.77T>C 1.__UNKNOWN__:g.160971131A>G ENSP00000357005:p.Leu26Ser B7Z941 __UNKNOWN__ CCDS1213.1 . . . . . . . . . . A 8.165 0.790442 0.16258 . . ENSG00000158769 ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182 T;T;T 0.58060 1.48;0.36;1.36 4.11 0.284 0.15701 . 0.528490 0.14443 N 0.319293 T 0.14657 0.0354 L 0.47716 1.5 0.09310 N 1 B;B;B;B;B 0.26363 0.024;0.004;0.147;0.004;0.004 B;B;B;B;B 0.14023 0.009;0.006;0.01;0.006;0.006 T 0.16988 -1.0384 10 0.16420 T 0.52 . 2.6768 0.05083 0.5613:0.0:0.2328:0.206 . 30;26;26;26;26 B7Z5W1;B7Z941;Q6FIB4;Q9Y624;D3DVF0 .;.;.;JAM1_HUMAN;. S 26;26;26;26;30 ENSP00000357005:L26S;ENSP00000440812:L26S;ENSP00000394809:L30S ENSP00000289779:L26S L - 2 0 F11R 159237755 0.000000 0.05858 0.014000 0.15608 0.045000 0.14185 -0.112000 0.10791 0.140000 0.18849 0.460000 0.39030 TTG F11R-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000071458.3 - ENST00000368026.6 Missense_Mutation SNP PCPG-TCGA-RW-A68B-Normal-SM-5EQGU FASTKD5 60493 broad.mit.edu 37 20 3128950 3128950 + Missense_Mutation SNP C C T TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr20:3128950C>T ENST00000380266.3 - 2.0 1088 c.767G>A c.(766-768)cGc>cAc p.R256H 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 5 256.0 R -> C (in dbSNP:rs3746700). cellular respiration (GO:0045333) mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672) breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19.0 AGGTACTTTGCGGCCTAAGTA 0.393 0 43.0 45.0 44.0 20 3128950.0 2197.0 4300.0 6497.0 SO:0001583 missense BC007413 CCDS13048.1 20p13 2006-07-07 ENSG00000215251 ENSG00000215251 60493.0 60493.0 25790.0 protein-coding gene gene with protein product 614272.0 11347906 Standard NM_021826 NM_021826 Approved FLJ13149 uc002whz.4 Q7L8L6 OTTHUMG00000031727 ENST00000380266.3:c.767G>A 20.__UNKNOWN__:g.3128950C>T ENSP00000369618:p.Arg256His Q96JN3|Q9H5D1|Q9H8Y3 __UNKNOWN__ CCDS13048.1 . . . . . . . . . . C 2.372 -0.344047 0.05208 . . ENSG00000215251 ENST00000380266 T 0.15834 2.39 5.77 -5.54 0.02544 . 0.210965 0.36854 N 0.002379 T 0.07234 0.0183 N 0.20986 0.625 0.09310 N 0.999996 B 0.17268 0.021 B 0.10450 0.005 T 0.35895 -0.9770 10 0.13470 T 0.59 . 7.9106 0.29789 0.0985:0.4191:0.0:0.4824 . 256 Q7L8L6 FAKD5_HUMAN H 256 ENSP00000369618:R256H ENSP00000369618:R256H R - 2 0 FASTKD5 3076950 0.000000 0.05858 0.084000 0.20598 0.068000 0.16541 -0.182000 0.09726 -1.106000 0.03008 -0.459000 0.05422 CGC FASTKD5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077701.2 - ENST00000380266.3 Missense_Mutation SNP PCPG-TCGA-RW-A68B-Normal-SM-5EQGU LRRC43 254050 broad.mit.edu 37 12 122674895 122674895 + Missense_Mutation SNP G G A TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr12:122674895G>A ENST00000339777.4 + 5.0 909 c.881G>A c.(880-882)cGg>cAg p.R294Q LRRC43_ENST00000425921.1_Missense_Mutation_p.R109Q NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 294.0 LRRCT. NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19.0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) CATCTCTTCCGGGGGCTCAGC 0.667 0 G GLN/ARG,GLN/ARG 0,4176 0,0,2088 56.0 59.0 58.0 881,326 3.0 1.0 12 58.0 1,8411 0,1,4205 no missense,missense LRRC43 NM_001098519.1,NM_152759.4 43,43 0,1,6293 AA,AG,GG 0.0119,0.0,0.0079 possibly-damaging,possibly-damaging 294/657,109/472 122674895.0 1,12587 2088.0 4206.0 6294.0 SO:0001583 missense AK124107 CCDS45001.1 12q24.31 2014-09-11 ENSG00000158113 ENSG00000158113 254050.0 254050.0 28562.0 protein-coding gene gene with protein product 12477932 Standard NM_152759 NM_152759 Approved MGC35140 uc009zxm.3 Q8N309 OTTHUMG00000168915 ENST00000339777.4:c.881G>A 12.__UNKNOWN__:g.122674895G>A ENSP00000344233:p.Arg294Gln Q6ZVT9 __UNKNOWN__ CCDS45001.1 . . . . . . . . . . G 15.79 2.937277 0.52972 0.0 1.19E-4 ENSG00000158113 ENST00000537729;ENST00000339777;ENST00000289014;ENST00000425921 T;T;T 0.57436 0.89;0.4;0.83 5.22 3.03 0.35002 . 0.288246 0.31685 N 0.007235 T 0.35451 0.0932 L 0.35723 1.085 0.29873 N 0.826688 P 0.43314 0.803 B 0.32724 0.151 T 0.32955 -0.9887 10 0.31617 T 0.26 -39.0798 11.6084 0.51045 0.1772:0.0:0.8228:0.0 . 294 Q8N309 LRC43_HUMAN Q 109;294;165;109 ENSP00000438751:R109Q;ENSP00000344233:R294Q;ENSP00000416628:R109Q ENSP00000289014:R165Q R + 2 0 LRRC43 121240848 0.996000 0.38824 0.998000 0.56505 0.974000 0.67602 0.724000 0.25954 1.218000 0.43458 0.561000 0.74099 CGG LRRC43-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401589.1 + ENST00000339777.4 Missense_Mutation SNP PCPG-TCGA-RW-A68B-Normal-SM-5EQGU GABBR1 0 broad.mit.edu 37 6 29574694 29574694 + Missense_Mutation SNP G G A TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr6:29574694G>A ENST00000377034.4 - 18.0 2532 c.2197C>T c.(2197-2199)Cct>Tct p.P733S GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_Missense_Mutation_p.P616S|GABBR1_ENST00000355973.3_Missense_Mutation_p.P616S|GABBR1_ENST00000377016.4_Missense_Mutation_p.P671S NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 733.0 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734) G-protein coupled GABA receptor activity (GO:0004965) 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) 47.0 Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080) CGGTGCAGAGGGTCCACGATC 0.587 0 81.0 69.0 73.0 6 29574694.0 1511.0 2709.0 4220.0 SO:0001583 missense Y11044 CCDS4663.1, CCDS4664.1, CCDS4665.1 6p21.3 2012-08-29 ENSG00000204681 ENSG00000204681 2550.0 """GABA receptors"", ""GPCR / Class C : GABA(B) receptors""" 4070.0 protein-coding gene gene with protein product """GABA-B receptor""" 603540.0 9753614, 9798068 Standard NM_001470 Approved hGB1a, GPRC3A uc003nmt.4 Q9UBS5 OTTHUMG00000031095 ENST00000377034.4:c.2197C>T 6.__UNKNOWN__:g.29574694G>A ENSP00000366233:p.Pro733Ser B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0 __UNKNOWN__ CCDS4663.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 18.59|18.59 3.657559|3.657559 0.67586|0.67586 .|. .|. ENSG00000204681|ENSG00000204681 ENST00000485026|ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034 .|D;D;D;D .|0.90261 .|-2.64;-2.64;-2.64;-2.64 4.35|4.35 4.35|4.35 0.52113|0.52113 .|GPCR, family 3, C-terminal (2); 0.000000|0.000000 0.85682|0.85682 D|D 0.000000|0.000000 D|D 0.94142|0.94142 0.8121|0.8121 M|M 0.78456|0.78456 2.415|2.415 0.80722|0.80722 D|D 1|1 .|D;D;D .|0.89917 .|1.0;1.0;1.0 .|D;D;D .|0.91635 .|0.999;0.999;0.999 D|D 0.94948|0.94948 0.8097|0.8097 6|10 .|0.87932 .|D .|0 -18.3535|-18.3535 14.7425|14.7425 0.69467|0.69467 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. .|671;733;616 .|Q9UBS5-3;Q9UBS5;Q5SUJ9 .|.;GABR1_HUMAN;. L|S 113|616;671;616;733 .|ENSP00000348248:P616S;ENSP00000366215:P671S;ENSP00000366211:P616S;ENSP00000366233:P733S .|ENSP00000348248:P616S P|P -|- 2|1 0|0 GABBR1|GABBR1 29682673|29682673 1.000000|1.000000 0.71417|0.71417 0.990000|0.990000 0.47175|0.47175 0.344000|0.344000 0.29017|0.29017 9.240000|9.240000 0.95396|0.95396 2.121000|2.121000 0.65114|0.65114 0.563000|0.563000 0.77884|0.77884 CCC|CCT GABBR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076141.3 - ENST00000377034.4 Missense_Mutation SNP PCPG-TCGA-RW-A68B-Normal-SM-5EQGU AAAS 8086 broad.mit.edu 37 12 53708589 53708589 + Missense_Mutation SNP T T C TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr12:53708589T>C ENST00000209873.4 - 6.0 656 c.491A>G c.(490-492)aAc>aGc p.N164S AAAS_ENST00000550286.1_Missense_Mutation_p.N40S|AAAS_ENST00000394384.3_Intron|AAAS_ENST00000549983.1_5'UTR NM_015665.5 NP_056480.1 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, alacrimia 164.0 carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20.0 TGCAAACTTGTTGGTGTGGGG 0.537 0 86.0 66.0 73.0 12 53708589.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ289841 CCDS8856.1, CCDS53797.1 12q13 2013-06-27 2010-06-24 ENSG00000094914 ENSG00000094914 8086.0 8086.0 """WD repeat domain containing""" 13666.0 protein-coding gene gene with protein product """aladin"", ""Allgrove, triple-A""" 605378.0 """achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)""" 11062474 Standard NM_015665 Approved uc001scr.4 Q9NRG9 OTTHUMG00000169729 ENST00000209873.4:c.491A>G 12.__UNKNOWN__:g.53708589T>C ENSP00000209873:p.Asn164Ser Q5JB47|Q9NWI6|Q9UG19 __UNKNOWN__ CCDS8856.1 . . . . . . . . . . T 11.46 1.645768 0.29246 . . ENSG00000094914 ENST00000209873;ENST00000550286 D;D 0.95588 -3.75;-3.75 4.76 4.76 0.60689 WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.099081 0.64402 D 0.000002 D 0.88074 0.6339 N 0.11927 0.2 0.44995 D 0.998017 P 0.42692 0.787 B 0.41236 0.351 D 0.87557 0.2469 10 0.05525 T 0.97 -16.0229 12.5739 0.56354 0.0:0.0:0.0:1.0 . 164 Q9NRG9 AAAS_HUMAN S 164;40 ENSP00000209873:N164S;ENSP00000446885:N40S ENSP00000209873:N164S N - 2 0 AAAS 51994856 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 4.403000 0.59729 2.136000 0.66102 0.455000 0.32223 AAC AAAS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405632.1 - ENST00000209873.4 Missense_Mutation SNP PCPG-TCGA-RW-A68B-Normal-SM-5EQGU MYH7B 57644 bcgsc.ca 37 20 33589903 33589903 + Silent SNP G G A TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr20:33589903G>A ENST00000262873.7 + 42.0 6032 NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta membrane (GO:0016020)|myosin filament (GO:0032982) ATP binding (GO:0005524)|motor activity (GO:0003774) 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) 54.0 BRCA - Breast invasive adenocarcinoma(18;0.00691) GGAGTGGCAGGGGCATTGCTC 0.647 OREG0025884 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 42.0 56.0 51.0 20 33589903.0 2148.0 4257.0 6405.0 SO:0001627 intron_variant AB040945 CCDS42869.1 20q11 2011-09-27 2006-09-29 ENSG00000078814 ENSG00000078814 57644.0 57644.0 """Myosins / Myosin superfamily : Class II""" 15906.0 protein-coding gene gene with protein product 609928 """myosin, heavy polypeptide 7B, cardiac muscle, beta""" 11919279, 15014174 Standard NM_020884 XM_006723839 Approved KIAA1512, dJ756N5.1, MYH14, MHC14 uc002xbi.2 A7E2Y1 OTTHUMG00000032320 ENST00000262873.7:c.5940+15G>A 20.__UNKNOWN__:g.33589903G>A 841.0 Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216 __UNKNOWN__ CCDS42869.1 MYH7B-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000078833.2 + ENST00000262873.7 Intron SNP PCPG-TCGA-RW-A68B-Normal-SM-5EQGU PARD6B 84612 bcgsc.ca 37 20 49354580 49354580 + Missense_Mutation SNP G G A TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr20:49354580G>A ENST00000396039.1 + 2.0 375 c.253G>A c.(253-255)Gcc>Acc p.A85T PARD6B_ENST00000371610.2_Missense_Mutation_p.A85T Q9BYG5 PAR6B_HUMAN par-6 family cell polarity regulator beta 85.0 OPR. axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830) apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1) 11.0 TGTTTCAACGGCCAATCCACT 0.348 0 71.0 69.0 69.0 20 49354580.0 2203.0 4300.0 6503.0 SO:0001583 missense AB044555 CCDS33485.1 20q13.13 2013-08-28 2013-08-28 ENSG00000124171 ENSG00000124171 84612.0 84612.0 16245.0 protein-coding gene gene with protein product 608975 """par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)""" 11260256 Standard NM_032521 NM_032521 Approved PAR-6B uc002xvo.3 Q9BYG5 OTTHUMG00000032732 ENST00000396039.1:c.253G>A 20.__UNKNOWN__:g.49354580G>A ENSP00000379354:p.Ala85Thr A2A2A7|Q9Y510 __UNKNOWN__ . . . . . . . . . . G 23.9 4.471138 0.84533 . . ENSG00000124171 ENST00000371610;ENST00000396039 T;T 0.28454 1.61;1.61 6.14 5.19 0.71726 Phox/Bem1p (2); 0.000000 0.85682 D 0.000000 T 0.47728 0.1461 L 0.54323 1.7 0.80722 D 1 D 0.56287 0.975 P 0.61722 0.893 T 0.44817 -0.9303 10 0.52906 T 0.07 -30.5411 14.4098 0.67109 0.0697:0.0:0.9303:0.0 . 85 Q9BYG5 PAR6B_HUMAN T 85 ENSP00000360672:A85T;ENSP00000379354:A85T ENSP00000360672:A85T A + 1 0 PARD6B 48787987 1.000000 0.71417 0.970000 0.41538 0.854000 0.48673 9.431000 0.97494 1.626000 0.50381 0.650000 0.86243 GCC PARD6B-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000258383.1 + ENST00000396039.1 Missense_Mutation SNP PCPG-TCGA-RW-A68B-Normal-SM-5EQGU Unknown 0 bcgsc.ca 37 6 1515033 1515033 + RNA SNP G G A TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr6:1515033G>A RN7SL352P (7182 upstream) : RP11-157J24.2 (13565 downstream) TTAATATACCGGGGACAAGTA 0.383 0 SO:0001628 intergenic_variant 6.__UNKNOWN__:g.1515033G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-RW-A68B-Normal-SM-5EQGU MARCH2 51257 ucsc.edu 37 19 8503374 8503374 + Missense_Mutation SNP C C T TCGA-RW-A68B-01A-11D-A35D-08 TCGA-RW-A68B-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 4afc3d13-ad9f-4900-8507-b37de18d0347 dc696df8-0c64-4c3f-9044-7c0156062d78 g.chr19:8503374C>T ENST00000602117.1 + 5.0 1140 c.685C>T c.(685-687)Cat>Tat p.H229Y MARCH2_ENST00000381035.4_Missense_Mutation_p.H159Y|MARCH2_ENST00000393944.1_Missense_Mutation_p.H229Y|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.H229Y Q9P0N8 MARH2_HUMAN membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase 229.0 endocytosis (GO:0006897)|protein ubiquitination (GO:0016567) cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1) 10.0 GGGCCCCCAGCATTCTCCACT 0.612 0 34.0 37.0 36.0 19 8503374.0 2203.0 4300.0 6503.0 SO:0001583 missense AF151074 CCDS12202.1, CCDS32894.1 19p13.2 2013-01-09 2012-02-23 ENSG00000099785 51257.0 51257.0 """MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers""" 28038.0 protein-coding gene gene with protein product 613332 """membrane-associated ring finger (C3HC4) 2""" 11042152, 14722266 Standard NM_016496 NM_016496 Approved HSPC240, MARCH-II, RNF172 uc002mjw.3 Q9P0N8 ENST00000602117.1:c.685C>T 19.__UNKNOWN__:g.8503374C>T ENSP00000471536:p.His229Tyr A6NP10|Q5H785|Q8N5A3|Q96B78 __UNKNOWN__ CCDS12202.1 . . . . . . . . . . C 19.98 3.927053 0.73327 . . ENSG00000099785 ENST00000393944;ENST00000215555;ENST00000381035 T;T;T 0.13901 2.55;2.55;2.55 5.33 5.33 0.75918 . 0.795793 0.11544 N 0.553494 T 0.21921 0.0528 M 0.72479 2.2 0.37234 D 0.905812 B;P 0.48503 0.437;0.911 B;B 0.40410 0.161;0.328 T 0.28681 -1.0036 10 0.44086 T 0.13 -14.2353 17.6131 0.88060 0.0:1.0:0.0:0.0 . 159;229 Q9P0N8-2;Q9P0N8 .;MARH2_HUMAN Y 229;229;159 ENSP00000377518:H229Y;ENSP00000215555:H229Y;ENSP00000370423:H159Y ENSP00000215555:H229Y H + 1 0 MARCH2 8409374 1.000000 0.71417 0.057000 0.19452 0.504000 0.33889 5.730000 0.68546 2.490000 0.84030 0.655000 0.94253 CAT MARCH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000460361.2 + ENST00000602117.1 Missense_Mutation SNP PCPG-TCGA-RW-A68B-Normal-SM-5EQGU OLFM3 118427 broad.mit.edu 37 1 102270459 102270459 + Missense_Mutation SNP C C T TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr1:102270459C>T ENST00000338858.5 - 6.0 771 c.772G>A c.(772-774)Gac>Aac p.D258N OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.D238N Q96PB7 NOE3_HUMAN olfactomedin 3 258.0 Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}. eye photoreceptor cell development (GO:0042462) alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43.0 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) GTATAACTGTCCATGTACCAG 0.373 0 45.0 44.0 44.0 1 102270459.0 2203.0 4297.0 6500.0 SO:0001583 missense AF397392 CCDS30781.1, CCDS72832.1 1p22 2008-05-23 ENSG00000118733 ENSG00000118733 118427.0 118427.0 17990.0 protein-coding gene gene with protein product """optimedin""" 607567.0 12019210, 16115881 Standard NM_001288821 Approved NOE3 uc001dug.2 Q96PB7 OTTHUMG00000010941 ENST00000338858.5:c.772G>A 1.__UNKNOWN__:g.102270459C>T ENSP00000345192:p.Asp258Asn Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6 __UNKNOWN__ . . . . . . . . . . C 22.9 4.347121 0.82022 . . ENSG00000118733 ENST00000424771;ENST00000370103;ENST00000338858 D;D 0.90385 -2.66;-2.66 5.35 5.35 0.76521 Olfactomedin-like (3); 0.000000 0.85682 D 0.000000 D 0.94225 0.8146 M 0.68593 2.085 0.80722 D 1 D;D 0.89917 1.0;0.997 D;D 0.80764 0.994;0.994 D 0.94364 0.7590 10 0.66056 D 0.02 . 19.056 0.93066 0.0:1.0:0.0:0.0 . 238;258 Q5T3V6;Q96PB7 .;NOE3_HUMAN N 109;238;258 ENSP00000359121:D238N;ENSP00000345192:D258N ENSP00000345192:D258N D - 1 0 OLFM3 102043047 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.818000 0.86416 2.510000 0.84645 0.650000 0.86243 GAC OLFM3-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000030142.1 - ENST00000338858.5 Missense_Mutation SNP PCPG-TCGA-RW-A68C-Normal-SM-5EQG9 BHLHE40 8553 broad.mit.edu 37 3 5024941 5024941 + Missense_Mutation SNP G G A TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr3:5024941G>A ENST00000256495.3 + 5.0 1406 c.803G>A c.(802-804)aGg>aAg p.R268K NM_003670.2 NP_003661.1 O14503 BHE40_HUMAN basic helix-loop-helix family, member e40 268.0 circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634) bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2) 12.0 CACGGACGCAGGTTCACGATG 0.552 0 74.0 70.0 71.0 3 5024941.0 2203.0 4300.0 6503.0 SO:0001583 missense AB004066 CCDS2565.1 3p26 2009-01-12 2009-01-12 2009-01-12 ENSG00000134107 ENSG00000134107 8553.0 8553.0 """Basic helix-loop-helix proteins""" 1046.0 protein-coding gene gene with protein product """differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1""" 604256.0 """basic helix-loop-helix domain containing, class B, 2""" STRA13, BHLHB2 9240428, 10449910, 18557763 Standard NM_003670 NM_003670 Approved DEC1, bHLHe40 uc003bqf.3 O14503 OTTHUMG00000119035 ENST00000256495.3:c.803G>A 3.__UNKNOWN__:g.5024941G>A ENSP00000256495:p.Arg268Lys Q96TD3 __UNKNOWN__ CCDS2565.1 . . . . . . . . . . G 0.035 -1.309126 0.01342 . . ENSG00000134107 ENST00000256495 T 0.74737 -0.87 5.52 3.48 0.39840 . 1.131420 0.06336 N 0.707123 T 0.39860 0.1094 N 0.00960 -1.095 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.50617 -0.8807 10 0.02654 T 1 . 4.2071 0.10493 0.4725:0.0:0.5275:0.0 . 268 O14503 BHE40_HUMAN K 268 ENSP00000256495:R268K ENSP00000256495:R268K R + 2 0 BHLHE40 4999941 0.984000 0.35163 0.931000 0.37212 0.050000 0.14768 2.768000 0.47645 1.340000 0.45581 -0.140000 0.14226 AGG BHLHE40-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000239244.2 + ENST00000256495.3 Missense_Mutation SNP PCPG-TCGA-RW-A68C-Normal-SM-5EQG9 RP11-468E2.4 0 broad.mit.edu 37 14 24629074 24629074 + Splice_Site SNP C C T TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr14:24629074C>T ENST00000558468.1 + 11.0 1326 c.1326C>T c.(1324-1326)ggC>ggT p.G442G RNF31_ENST00000382687.3_Splice_Site_p.G816G|RNF31_ENST00000559275.1_Splice_Site_p.G816G|RNF31_ENST00000324103.6_Splice_Site_p.G967G p.G967G(1) CACCTTTAGGCGGCTGCCGAG 0.582 1 Substitution - coding silent(1) large_intestine(1) 122.0 125.0 124.0 14 24629074.0 1947.0 4145.0 6092.0 SO:0001630 splice_region_variant ENST00000558468.1:c.1325-1C>T 14.__UNKNOWN__:g.24629074C>T __UNKNOWN__ RP11-468E2.4-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay protein_coding OTTHUMT00000416078.1 Silent + ENST00000558468.1 Splice_Site SNP PCPG-TCGA-RW-A68C-Normal-SM-5EQG9 MACF1 643314 broad.mit.edu 37 1 39878320 39878320 + Missense_Mutation SNP G G A TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr1:39878320G>A ENST00000372915.3 + 58.0 15918 MACF1_ENST00000539005.1_Intron|KIAA0754_ENST00000530275.1_Missense_Mutation_p.G659R|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587) actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822) 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) 203.0 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) ATCAGAGGGAGGGGAGATGGA 0.428 0 80.0 79.0 79.0 1 39878320.0 1903.0 4126.0 6029.0 SO:0001627 intron_variant AB007934 CCDS435.1 1p32-p31 2013-01-10 ENSG00000127603 ENSG00000127603 23499.0 23499.0 """EF-hand domain containing""" 13664.0 protein-coding gene gene with protein product """actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7""" 608271.0 7635207, 10529403 Standard NM_033044 NM_012090 Approved KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776 uc031pmc.1 Q9UPN3 OTTHUMG00000007754 ENST00000372915.3:c.15832-9726G>A 1.__UNKNOWN__:g.39878320G>A B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9 __UNKNOWN__ . . . . . . . . . . G 10.61 1.399276 0.25291 . . ENSG00000255103 ENST00000530275 D 0.85702 -2.02 5.33 0.14 0.14804 . . . . . T 0.72708 0.3494 N 0.24115 0.695 0.09310 N 1 B 0.06786 0.001 B 0.12156 0.007 T 0.61337 -0.7083 9 0.72032 D 0.01 . 5.2382 0.15458 0.3272:0.1383:0.5345:0.0 . 659 O94854 K0754_HUMAN R 659 ENSP00000431179:G659R ENSP00000431179:G659R G + 1 0 RP4-562N20.1 39650907 0.081000 0.21417 0.001000 0.08648 0.816000 0.46133 0.504000 0.22626 0.010000 0.14839 -0.127000 0.14921 GGG MACF1-028 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000392096.1 + ENST00000372915.3 Intron SNP PCPG-TCGA-RW-A68C-Normal-SM-5EQG9 LARP1 23367 broad.mit.edu 37 5 154183828 154183828 + Missense_Mutation SNP T T A TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr5:154183828T>A ENST00000336314.4 + 14.0 2300 c.2276T>A c.(2275-2277)aTg>aAg p.M759K NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 836.0 cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369) breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33.0 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GGCTGGGTGATGGATTCCCGT 0.557 0 138.0 132.0 134.0 5 154183828.0 2203.0 4300.0 6503.0 SO:0001583 missense AB018274 CCDS4328.1 5q33.2 2014-02-12 ENSG00000155506 ENSG00000155506 23367.0 23367.0 """La ribonucleoprotein domain containing""" 29531.0 protein-coding gene gene with protein product 612059.0 9872452, 10878606 Standard NM_033551 NM_015315 Approved LARP, KIAA0731, MGC19556 uc003lvo.4 Q6PKG0 OTTHUMG00000130191 ENST00000336314.4:c.2276T>A 5.__UNKNOWN__:g.154183828T>A ENSP00000336721:p.Met759Lys O94836|Q8N4M2|Q8NB73|Q9UFD7 __UNKNOWN__ CCDS4328.1 .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. T|T|T 21.9|21.9|21.9 4.214844|4.214844|4.214844 0.79352|0.79352|0.79352 .|.|. .|.|. ENSG00000155506|ENSG00000155506|ENSG00000155506 ENST00000522272|ENST00000336314|ENST00000518677 .|T|. .|0.28454|. .|1.61|. 6.17|6.17|6.17 6.17|6.17|6.17 0.99709|0.99709|0.99709 .|.|. .|0.035174|. .|0.85682|. .|D|. .|0.000000|. T|T|T 0.80665|0.80665|0.80665 0.4666|0.4666|0.4666 M|M|M 0.86740|0.86740|0.86740 2.835|2.835|2.835 0.80722|0.80722|0.80722 D|D|D 1|1|1 .|D;D|. .|0.71674|. .|0.979;0.998|. .|P;D|. .|0.69307|. .|0.822;0.963|. T|T|T 0.83011|0.83011|0.83011 -0.0172|-0.0172|-0.0172 5|10|5 .|0.72032|. .|D|. .|0.01|. -20.5089|-20.5089|-20.5089 16.8222|16.8222|16.8222 0.85835|0.85835|0.85835 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|.|. .|836;759|. .|Q6PKG0;Q6PKG0-3|. .|LARP1_HUMAN;.|. E|K|R 16|759|150 .|ENSP00000336721:M759K|. .|ENSP00000336721:M759K|. D|M|W +|+|+ 3|2|1 2|0|0 LARP1|LARP1|LARP1 154164021|154164021|154164021 1.000000|1.000000|1.000000 0.71417|0.71417|0.71417 1.000000|1.000000|1.000000 0.80357|0.80357|0.80357 0.254000|0.254000|0.254000 0.26022|0.26022|0.26022 7.975000|7.975000|7.975000 0.88055|0.88055|0.88055 2.371000|2.371000|2.371000 0.80710|0.80710|0.80710 0.533000|0.533000|0.533000 0.62120|0.62120|0.62120 GAT|ATG|TGG LARP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252509.1 + ENST00000336314.4 Missense_Mutation SNP PCPG-TCGA-RW-A68C-Normal-SM-5EQG9 PTPRD 5789 broad.mit.edu 37 9 8389380 8389380 + Missense_Mutation SNP G G T TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr9:8389380G>T ENST00000381196.4 - 34.0 4781 c.4238C>A c.(4237-4239)gCc>gAc p.A1413D PTPRD_ENST00000356435.5_Missense_Mutation_p.A1413D|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1006D|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1003D|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1003D|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1400D|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1391D|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1007D|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1006D|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1006D|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1413D NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1413.0 Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}. heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) 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) 168.0 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) TATGTAGTTGGCATTCACATA 0.448 TSP Lung(15;0.13) 0 166.0 158.0 160.0 9 8389380.0 2203.0 4300.0 6503.0 SO:0001583 missense X54133 CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1 9p24.1-p23 2013-02-11 ENSG00000153707 ENSG00000153707 5789.0 5789.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 9668.0 protein-coding gene gene with protein product 601598.0 7896816, 8355697 Standard NM_002839 Approved PTPD, HPTP uc003zkk.3 P23468 OTTHUMG00000021005 ENST00000381196.4:c.4238C>A 9.__UNKNOWN__:g.8389380G>T ENSP00000370593:p.Ala1413Asp B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2 __UNKNOWN__ CCDS43786.1 . . . . . . . . . . G 31 5.083301 0.94050 . . ENSG00000153707 ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606 T;T;T;T;T;T;T;T;T;T;T 0.73152 -0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72 5.55 5.55 0.83447 Protein-tyrosine phosphatase, receptor/non-receptor type (4); 0.111218 0.64402 D 0.000010 D 0.92609 0.7652 H 0.99890 4.9 0.80722 D 1 D;B;B;B;D;B;D;D;D 0.89917 1.0;0.235;0.235;0.235;1.0;0.197;1.0;0.969;0.999 D;B;B;B;D;B;D;P;D 0.79784 0.953;0.189;0.189;0.189;0.993;0.119;0.983;0.648;0.981 D 0.96114 0.9079 9 . . . . 19.4972 0.95079 0.0:0.0:1.0:0.0 . 1006;997;1006;1007;1003;1003;1400;1413;1413 Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468 .;.;.;.;.;.;.;.;PTPRD_HUMAN D 1413;1413;1400;1391;1007;1006;1003;1003;884;1413;1006;1006 ENSP00000370593:A1413D;ENSP00000348812:A1413D;ENSP00000353187:A1400D;ENSP00000351293:A1391D;ENSP00000347373:A1007D;ENSP00000380741:A1006D;ENSP00000380735:A1003D;ENSP00000440515:A1003D;ENSP00000438164:A1413D;ENSP00000417093:A1006D;ENSP00000380731:A1006D . A - 2 0 PTPRD 8379380 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 9.813000 0.99286 2.604000 0.88044 0.555000 0.69702 GCC PTPRD-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055395.3 - ENST00000381196.4 Missense_Mutation SNP PCPG-TCGA-RW-A68C-Normal-SM-5EQG9 PCYOX1 51449 broad.mit.edu 37 2 70485303 70485303 + Missense_Mutation SNP C C T TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr2:70485303C>T ENST00000264441.5 + 1.0 23 c.7C>T c.(7-9)Cgc>Tgc p.R3C PCYOX1_ENST00000505044.2_Intron|PCYOX1_ENST00000433351.2_Missense_Mutation_p.R3C Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 3.0 prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329) extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361) chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6) 15.0 GGCCATGGGGCGCGTCGTCGC 0.731 0 37.0 38.0 38.0 2 70485303.0 2203.0 4300.0 6503.0 SO:0001583 missense AB020715 CCDS1902.1 2p13.3 2008-02-05 ENSG00000116005 ENSG00000116005 51449.0 51449.0 1.8.3.5 20588.0 protein-coding gene gene with protein product 610995.0 10585463, 12186880 Standard NM_016297 NM_016297 Approved KIAA0908, PCL1 uc002sgn.4 Q9UHG3 OTTHUMG00000129671 ENST00000264441.5:c.7C>T 2.__UNKNOWN__:g.70485303C>T ENSP00000264441:p.Arg3Cys B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8 __UNKNOWN__ . . . . . . . . . . C 18.89 3.719160 0.68844 . . ENSG00000116005 ENST00000433351;ENST00000264441 T;T 0.50277 2.39;0.75 4.68 3.76 0.43208 . 1.652070 0.03427 N 0.207182 T 0.30696 0.0773 N 0.14661 0.345 0.24644 N 0.993551 P;P 0.51537 0.946;0.946 B;B 0.34346 0.18;0.18 T 0.35101 -0.9802 10 0.56958 D 0.05 0.0183 10.2532 0.43381 0.1961:0.8039:0.0:0.0 . 3;3 B7Z8A2;Q9UHG3 .;PCYOX_HUMAN C 3 ENSP00000387654:R3C;ENSP00000264441:R3C ENSP00000264441:R3C R + 1 0 PCYOX1 70338807 0.003000 0.15002 0.462000 0.27118 0.003000 0.03518 0.362000 0.20284 2.436000 0.82500 0.549000 0.68633 CGC PCYOX1-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000331593.2 + ENST00000264441.5 Missense_Mutation SNP PCPG-TCGA-RW-A68C-Normal-SM-5EQG9 MFI2 4241 broad.mit.edu 37 3 196753580 196753580 + Silent SNP C C A rs142138497 by1000genomes TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr3:196753580C>A ENST00000296350.5 - 3.0 368 c.255G>T c.(253-255)gcG>gcT p.A85A MFI2_ENST00000296351.4_Silent_p.A85A NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 85.0 Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}. cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756) anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) ferric iron binding (GO:0008199)|iron ion binding (GO:0005506) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20.0 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) GCTCCTTTCCCGCCTCATAGA 0.622 0 96.0 82.0 87.0 3 196753580.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS3325.1, CCDS3326.1 3q28-q29 2012-10-02 ENSG00000163975 ENSG00000163975 4241.0 4241.0 """CD molecules""" 7037.0 protein-coding gene gene with protein product """melanotransferrin"", ""membrane-bound transferrin-like protein""" 155750.0 Standard NM_033316 Approved CD228, FLJ38863, MAP97, MGC4856, MTF1 uc003fxk.4 P08582 OTTHUMG00000155518 ENST00000296350.5:c.255G>T 3.__UNKNOWN__:g.196753580C>A Q9BQE2 __UNKNOWN__ CCDS3325.1 MFI2-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340458.1 - ENST00000296350.5 Silent SNP PCPG-TCGA-RW-A68C-Normal-SM-5EQG9 SLC25A21 89874 broad.mit.edu 37 14 37198737 37198737 + Missense_Mutation SNP C C T TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr14:37198737C>T ENST00000331299.5 - 5.0 820 c.305G>A c.(304-306)gGa>gAa p.G102E SLC25A21_ENST00000555449.1_Missense_Mutation_p.G102E NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 102.0 cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9.0 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) TGACACATATCCCAGCAATTT 0.318 0 63.0 58.0 60.0 14 37198737.0 2202.0 4299.0 6501.0 SO:0001583 missense AJ278148 CCDS9663.1, CCDS55913.1 14q13.3 2014-01-28 2012-03-29 ENSG00000183032 ENSG00000183032 89874.0 89874.0 """Solute carriers""" 14411.0 protein-coding gene gene with protein product 607571.0 """solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21""" 11083877 Standard NM_030631 NM_030631 Approved ODC1, ODC uc001wtz.2 Q9BQT8 OTTHUMG00000140250 ENST00000331299.5:c.305G>A 14.__UNKNOWN__:g.37198737C>T ENSP00000329452:p.Gly102Glu A8K0L0|G3V4L5|Q3MJ99 __UNKNOWN__ CCDS9663.1 . . . . . . . . . . C 1.639 -0.517007 0.04171 . . ENSG00000183032 ENST00000555449;ENST00000331299 T;T 0.77750 -1.12;-1.12 5.88 5.0 0.66597 Mitochondrial carrier domain (2); 0.313942 0.38837 N 0.001549 T 0.62221 0.2410 L 0.33753 1.03 0.39473 D 0.967754 B 0.12013 0.005 B 0.12837 0.008 T 0.55231 -0.8173 10 0.02654 T 1 -5.904 10.1295 0.42669 0.135:0.7965:0.0:0.0685 . 102 Q9BQT8 ODC_HUMAN E 102 ENSP00000451873:G102E;ENSP00000329452:G102E ENSP00000329452:G102E G - 2 0 SLC25A21 36268488 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 1.291000 0.33330 1.495000 0.48549 0.650000 0.86243 GGA SLC25A21-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000276732.2 - ENST00000331299.5 Missense_Mutation SNP PCPG-TCGA-RW-A68C-Normal-SM-5EQG9 ADAM20 8748 broad.mit.edu 37 14 70989875 70989875 + Missense_Mutation SNP T T C TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr14:70989875T>C ENST00000256389.3 - 2.0 1994 c.1750A>G c.(1750-1752)Atc>Gtc p.I584V RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 534.0 Cys-rich. binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27.0 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TGGGTGTTGATTTCTTGGTAG 0.423 0 184.0 131.0 149.0 14 70989875.0 2203.0 4300.0 6503.0 SO:0001583 missense AF029899 CCDS32111.1 14q24.2 2012-04-30 2005-08-18 ENSG00000134007 ENSG00000134007 8748.0 8748.0 """ADAM metallopeptidase domain containing""" 199.0 protein-coding gene gene with protein product 603712.0 """a disintegrin and metalloproteinase domain 20""" 9469942 Standard NM_003814 Approved uc001xme.3 O43506 OTTHUMG00000167548 ENST00000256389.3:c.1750A>G 14.__UNKNOWN__:g.70989875T>C ENSP00000256389:p.Ile584Val Q6GTZ1|Q9UKJ9 __UNKNOWN__ CCDS32111.1 . . . . . . . . . . T 0.141 -1.102407 0.01828 . . ENSG00000134007 ENST00000256389 T 0.20332 2.08 4.66 -1.36 0.09085 ADAM, cysteine-rich (2); 0.762394 0.10814 N 0.631314 T 0.10165 0.0249 N 0.25332 0.735 0.09310 N 1 B 0.13145 0.007 B 0.22601 0.04 T 0.40683 -0.9550 10 0.02654 T 1 . 4.9475 0.13997 0.0:0.3864:0.1636:0.45 . 534 O43506 ADA20_HUMAN V 584 ENSP00000256389:I584V ENSP00000256389:I584V I - 1 0 ADAM20 70059628 0.000000 0.05858 0.237000 0.24090 0.013000 0.08279 -0.984000 0.03755 -0.072000 0.12864 -0.379000 0.06801 ATC ADAM20-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395004.2 - ENST00000256389.3 Missense_Mutation SNP PCPG-TCGA-RW-A68C-Normal-SM-5EQG9 KRT39 390792 broad.mit.edu 37 17 39122806 39122806 + Missense_Mutation SNP T T A TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr17:39122806T>A ENST00000355612.2 - 1.0 338 c.303A>T c.(301-303)caA>caT p.Q101H AC004231.2_ENST00000418393.1_RNA NM_213656.3 NP_998821.3 Q6A163 K1C39_HUMAN keratin 39 101.0 Coil 1A.|Rod. intermediate filament (GO:0005882) structural molecule activity (GO:0005198) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17.0 Breast(137;0.00043)|Ovarian(249;0.15) CGTTCAAGATTTGCATGGTCT 0.443 0 214.0 215.0 214.0 17 39122806.0 2203.0 4296.0 6499.0 SO:0001583 missense AJ786657 CCDS11382.1 17q21.2 2013-01-16 ENSG00000196859 ENSG00000196859 390792.0 390792.0 """-"", ""Intermediate filaments type I, keratins (acidic)""" 32971.0 protein-coding gene gene with protein product 16831889 Standard NM_213656 NM_213656 Approved KA35 uc002hvo.1 Q6A163 OTTHUMG00000133424 ENST00000355612.2:c.303A>T 17.__UNKNOWN__:g.39122806T>A ENSP00000347823:p.Gln101His B2RXK6|Q6IFU6 __UNKNOWN__ CCDS11382.1 . . . . . . . . . . t 8.734 0.917275 0.17982 . . ENSG00000196859 ENST00000355612 D 0.90900 -2.75 5.81 -4.26 0.03755 Filament (1); 0.524332 0.16091 N 0.230076 D 0.94847 0.8335 H 0.98199 4.17 0.23483 N 0.99758 P 0.40731 0.728 P 0.49999 0.628 D 0.91535 0.5245 10 0.87932 D 0 . 11.1219 0.48296 0.0:0.6348:0.1079:0.2573 . 101 Q6A163 K1C39_HUMAN H 101 ENSP00000347823:Q101H ENSP00000347823:Q101H Q - 3 2 KRT39 36376332 0.013000 0.17824 0.673000 0.29887 0.195000 0.23768 0.036000 0.13819 -0.647000 0.05444 -0.977000 0.02584 CAA KRT39-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257287.1 - ENST00000355612.2 Missense_Mutation SNP PCPG-TCGA-RW-A68C-Normal-SM-5EQG9 VCAM1 7412 broad.mit.edu 37 1 101186144 101186144 + Missense_Mutation SNP G G C TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr1:101186144G>C ENST00000294728.2 + 2.0 278 c.177G>C c.(175-177)tgG>tgC p.W59C VCAM1_ENST00000347652.2_Missense_Mutation_p.W59C|VCAM1_ENST00000370115.1_Missense_Mutation_p.W59C|VCAM1_ENST00000370119.4_Intron NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 59.0 Ig-like C2-type 1. acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032) alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383) cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131) central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56.0 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TTTTCTCTTGGAGAACCCAGA 0.473 0 79.0 73.0 75.0 1 101186144.0 2203.0 4300.0 6503.0 SO:0001583 missense M60335 CCDS773.1, CCDS774.1, CCDS55617.1 1p32-p31 2014-01-30 ENSG00000162692 ENSG00000162692 7412.0 7412.0 """CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands""" 12663.0 protein-coding gene gene with protein product 192225.0 Standard NM_001078 NM_080682 Approved CD106 uc001dti.3 P19320 OTTHUMG00000010982 ENST00000294728.2:c.177G>C 1.__UNKNOWN__:g.101186144G>C ENSP00000294728:p.Trp59Cys A8K6R7|B4DKS4|E9PDD1|Q6NUP8 __UNKNOWN__ CCDS773.1 . . . . . . . . . . G 18.02 3.529336 0.64860 . . ENSG00000162692 ENST00000347652;ENST00000294728;ENST00000370115 D;D;D 0.96300 -3.97;-3.97;-3.97 5.82 5.82 0.92795 Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.051491 0.85682 D 0.000000 D 0.98510 0.9503 M 0.91510 3.215 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 0.994;1.0 D 0.99072 1.0834 9 . . . -9.3404 17.8974 0.88892 0.0:0.0:1.0:0.0 . 59;59 P19320-2;P19320 .;VCAM1_HUMAN C 59 ENSP00000304611:W59C;ENSP00000294728:W59C;ENSP00000359133:W59C . W + 3 0 VCAM1 100958732 1.000000 0.71417 0.999000 0.59377 0.671000 0.39405 6.266000 0.72540 2.745000 0.94114 0.655000 0.94253 TGG VCAM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000030213.1 + ENST00000294728.2 Missense_Mutation SNP PCPG-TCGA-RW-A68C-Normal-SM-5EQG9 OR8K5 219453 broad.mit.edu 37 11 55926912 55926912 + Silent SNP G G A rs147115733 TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr11:55926912G>A ENST00000313447.1 - 1.0 881 c.882C>T c.(880-882)aaC>aaT p.N294N NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 294.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34.0 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) TCACCTCTTCGTTTCTTAAGC 0.299 G 1.0 0.0005 2184.0 0.9999 , , 0.0002 0.0013 0.0005 0.889 EXOME 0.0005 SNP 0 G 0,4402 0,0,2201 72.0 69.0 70.0 882 3.0 1.0 11 dbSNP_134 70.0 1,8591 1.2+/-3.3 0,1,4295 no coding-synonymous OR8K5 NM_001004058.2 0,1,6496 AA,AG,GG 0.0116,0.0,0.0077 294/308 55926912.0 1,12993 2201.0 4296.0 6497.0 SO:0001819 synonymous_variant BK004347 CCDS31521.1 11q11 2012-08-09 ENSG00000181752 ENSG00000181752 219453.0 219453.0 """GPCR / Class A : Olfactory receptors""" 15315.0 protein-coding gene gene with protein product Standard NM_001004058 NM_001004058 Approved uc010rja.2 Q8NH50 OTTHUMG00000166820 ENST00000313447.1:c.882C>T 11.__UNKNOWN__:g.55926912G>A Q6IFB5 __UNKNOWN__ CCDS31521.1 OR8K5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000391543.1 - ENST00000313447.1 Silent SNP PCPG-TCGA-RW-A68C-Normal-SM-5EQG9 VAV1 7409 broad.mit.edu 37 19 6821671 6821671 + Silent SNP C C A rs141823895 byFrequency TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr19:6821671C>A ENST00000602142.1 + 3.0 442 c.360C>A c.(358-360)atC>atA p.I120I VAV1_ENST00000599806.1_Silent_p.I65I|VAV1_ENST00000539284.1_Silent_p.I55I|VAV1_ENST00000596764.1_Silent_p.I120I|VAV1_ENST00000304076.2_Silent_p.I120I NM_005428.3 NP_005419.2 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 120.0 apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295) cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886) guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700) p.I120I(1) biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62.0 GGACCCCGATCGCCCAGAACA 0.627 1 Substitution - coding silent(1) lung(1) 89.0 78.0 82.0 19 6821671.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS12174.1, CCDS59341.1, CCDS59342.1 19p13.2 2013-02-14 2007-07-25 ENSG00000141968 7409.0 7409.0 """Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing""" 12657.0 protein-coding gene gene with protein product 164875.0 """vav 1 oncogene""" VAV 9438848 Standard NM_005428 Approved uc010xjh.2 P15498 ENST00000602142.1:c.360C>A 19.__UNKNOWN__:g.6821671C>A B4DVK9|M0QXX6|Q15860 __UNKNOWN__ CCDS12174.1 VAV1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000458475.1 + ENST00000602142.1 Silent SNP PCPG-TCGA-RW-A68C-Normal-SM-5EQG9 IFNA7 3444 broad.mit.edu 37 9 21202068 21202068 + Missense_Mutation SNP G G A rs140552953 byFrequency TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr9:21202068G>A ENST00000239347.3 - 1.0 136 c.97C>T c.(97-99)Cgt>Tgt p.R33C NM_021057.2 NP_066401.2 P01567 IFNA7_HUMAN interferon, alpha 7 33.0 adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337) extracellular region (GO:0005576)|extracellular space (GO:0005615) cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132) endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6) 12.0 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CTCCTATTACGCAGGCTGTGG 0.512 0 C CYS/ARG 4,4402 8.1+/-20.4 0,4,2199 98.0 97.0 97.0 97 -5.3 0.0 9 dbSNP_134 97.0 0,8600 0,0,4300 no missense IFNA7 NM_021057.2 180 0,4,6499 AA,AG,GG 0.0,0.0908,0.0308 possibly-damaging 33/190 21202068.0 4,13002 2203.0 4300.0 6503.0 SO:0001583 missense CCDS34995.1 9p22 2010-12-10 ENSG00000214042 ENSG00000214042 3444.0 3444.0 """Interferons""" 5428.0 protein-coding gene gene with protein product 147567.0 1385305 Standard NM_021057 NM_021057 Approved IFNA-J, IFN-alphaJ uc003zop.1 P01567 OTTHUMG00000019662 ENST00000239347.3:c.97C>T 9.__UNKNOWN__:g.21202068G>A ENSP00000239347:p.Arg33Cys Q14607|Q5VV14 __UNKNOWN__ CCDS34995.1 . . . . . . . . . . g 18.52 3.642755 0.67244 9.08E-4 0.0 ENSG00000214042 ENST00000239347 T 0.05786 3.39 3.14 -5.26 0.02772 Four-helical cytokine-like, core (1);Four-helical cytokine, core (1); 1.628040 0.03262 N 0.183455 T 0.12475 0.0303 L 0.34521 1.04 0.09310 N 1 D 0.89917 1.0 D 0.78314 0.991 T 0.25502 -1.0130 10 0.38643 T 0.18 . 5.6854 0.17801 0.0:0.3633:0.2867:0.3499 . 33 P01567 IFNA7_HUMAN C 33 ENSP00000239347:R33C ENSP00000239347:R33C R - 1 0 IFNA7 21192068 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -2.735000 0.00802 -2.082000 0.00868 -1.901000 0.00528 CGT IFNA7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051891.1 - ENST00000239347.3 Missense_Mutation SNP PCPG-TCGA-RW-A68C-Normal-SM-5EQG9 SLC35A4 113829 broad.mit.edu 37 5 139947373 139947373 + Nonsense_Mutation SNP G G T TCGA-RW-A68D-01A-11D-A35D-08 TCGA-RW-A68D-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f81b6d24-ffdc-4d48-bce5-bca9de8c1939 8ee15795-2e6c-4e56-a9e5-5e280ac8c57c g.chr5:139947373G>T ENST00000514199.1 + 2.0 2305 c.619G>T c.(619-621)Gag>Tag p.E207* SLC35A4_ENST00000323146.3_Nonsense_Mutation_p.E207*|APBB3_ENST00000507279.1_Intron Q96G79 S35A4_HUMAN solute carrier family 35, member A4 207.0 Leu-rich. Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) sugar:proton symporter activity (GO:0005351) endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13.0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTGTACACAGAGCTGCTCAT 0.577 0 93.0 92.0 92.0 5 139947373.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AJ420598 CCDS4231.1 5q31.3 2013-05-22 ENSG00000176087 ENSG00000176087 113829.0 113829.0 """Solute carriers""" 20753.0 protein-coding gene gene with protein product Standard NM_080670 NM_080670 Approved uc003lgg.1 Q96G79 OTTHUMG00000129495 ENST00000514199.1:c.619G>T 5.__UNKNOWN__:g.139947373G>T ENSP00000424566:p.Glu207* A8K013 __UNKNOWN__ CCDS4231.1 . . . . . . . . . . G 45 11.730368 0.99596 . . ENSG00000176087 ENST00000323146;ENST00000514199 . . . 4.68 4.68 0.58851 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . . . . -12.2268 17.3673 0.87367 0.0:0.0:1.0:0.0 . . . . X 207 . . E + 1 0 SLC35A4 139927557 1.000000 0.71417 1.000000 0.80357 0.969000 0.65631 9.259000 0.95561 2.423000 0.82170 0.462000 0.41574 GAG SLC35A4-004 PUTATIVE alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000372815.1 + ENST00000514199.1 Nonsense_Mutation SNP PCPG-TCGA-RW-A68D-Normal-SM-5EQG7 TMEM261 0 broad.mit.edu 37 9 7799665 7799665 + Missense_Mutation SNP C C T TCGA-RW-A68D-01A-11D-A35D-08 TCGA-RW-A68D-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f81b6d24-ffdc-4d48-bce5-bca9de8c1939 8ee15795-2e6c-4e56-a9e5-5e280ac8c57c g.chr9:7799665C>T ENST00000358227.4 - 1.0 402 c.70G>A c.(70-72)Gcc>Acc p.A24T TMEM261_ENST00000484082.1_Intron NM_033428.1 NP_219500.1 Q96GE9 TM261_HUMAN transmembrane protein 261 24.0 integral component of membrane (GO:0016021) GCAGGTTTGGCGGGCGCGGCG 0.657 0 20.0 25.0 23.0 9 7799665.0 2201.0 4299.0 6500.0 SO:0001583 missense BC009510 CCDS34989.1 9p24.1 2014-02-21 2013-09-11 2013-09-11 ENSG00000137038 ENSG00000137038 90871.0 90871.0 30536.0 protein-coding gene gene with protein product """chromosome 9 open reading frame 123""" C9orf123 21666724 Standard NM_033428 NM_033428 Approved MGC4730 uc003zkj.3 Q96GE9 OTTHUMG00000019539 ENST00000358227.4:c.70G>A 9.__UNKNOWN__:g.7799665C>T ENSP00000350961:p.Ala24Thr A8K9B7|Q5T6Y9|Q9NT74 __UNKNOWN__ CCDS34989.1 . . . . . . . . . . c 16.10 3.027107 0.54683 . . ENSG00000137038 ENST00000358227 T 0.53857 0.6 4.78 0.707 0.18139 . 0.445007 0.19150 N 0.121477 T 0.38983 0.1061 L 0.36672 1.1 0.09310 N 1 D;D 0.56968 0.978;0.978 B;P 0.46718 0.395;0.525 T 0.20306 -1.0279 10 0.32370 T 0.25 -4.3416 3.4046 0.07336 0.167:0.4171:0.3243:0.0916 . 24;24 Q96GE9-2;Q96GE9 .;CI123_HUMAN T 24 ENSP00000350961:A24T ENSP00000350961:A24T A - 1 0 C9orf123 7789665 0.114000 0.22134 0.058000 0.19502 0.012000 0.07955 0.091000 0.15046 0.284000 0.22305 0.454000 0.30748 GCC TMEM261-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051705.1 - ENST00000358227.4 Missense_Mutation SNP PCPG-TCGA-RW-A68D-Normal-SM-5EQG7 TIMELESS 8914 broad.mit.edu 37 12 56811930 56811930 + Missense_Mutation SNP C C T TCGA-RW-A68D-01A-11D-A35D-08 TCGA-RW-A68D-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f81b6d24-ffdc-4d48-bce5-bca9de8c1939 8ee15795-2e6c-4e56-a9e5-5e280ac8c57c g.chr12:56811930C>T ENST00000553532.1 - 27.0 3592 c.3442G>A c.(3442-3444)Gca>Aca p.A1148T TIMELESS_ENST00000554616.1_Missense_Mutation_p.A645T|TIMELESS_ENST00000229201.4_Missense_Mutation_p.A1147T timeless circadian clock 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) 49.0 TCTGGGGATGCCAGGCCCGCT 0.542 0 165.0 173.0 170.0 12 56811930.0 2203.0 4300.0 6503.0 SO:0001583 missense AF098162 CCDS8918.1 12q13.3 2012-12-14 2012-12-14 ENSG00000111602 ENSG00000111602 8914.0 8914.0 11813.0 protein-coding gene gene with protein product """Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1""" 603887.0 """timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)""" 9856465 Standard NM_003920 NM_003920 Approved hTIM, TIM, TIM1 uc001slf.2 Q9UNS1 OTTHUMG00000170600 ENST00000553532.1:c.3442G>A 12.__UNKNOWN__:g.56811930C>T ENSP00000450607:p.Ala1148Thr __UNKNOWN__ CCDS8918.1 . . . . . . . . . . C 11.49 1.653977 0.29425 . . ENSG00000111602 ENST00000229201;ENST00000553532;ENST00000554616 T;T;T 0.13657 2.57;2.57;2.57 5.05 3.14 0.36123 Timeless C-terminal (1); 1.502310 0.03919 N 0.283148 T 0.08582 0.0213 N 0.14661 0.345 0.09310 N 1 B 0.10296 0.003 B 0.09377 0.004 T 0.35919 -0.9769 10 0.09590 T 0.72 2.8102 6.8016 0.23754 0.0:0.725:0.1738:0.1012 . 1148 Q9UNS1 TIM_HUMAN T 1147;1148;645 ENSP00000229201:A1147T;ENSP00000450607:A1148T;ENSP00000450848:A645T ENSP00000229201:A1148T A - 1 0 TIMELESS 55098197 0.000000 0.05858 0.003000 0.11579 0.047000 0.14425 -0.540000 0.06106 0.590000 0.29694 0.655000 0.94253 GCA TIMELESS-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000409771.1 - ENST00000553532.1 Missense_Mutation SNP PCPG-TCGA-RW-A68D-Normal-SM-5EQG7 FANCC 2176 broad.mit.edu 37 9 97864024 97864024 + Nonsense_Mutation SNP G G A rs104886457 TCGA-RW-A68D-01A-11D-A35D-08 TCGA-RW-A68D-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f81b6d24-ffdc-4d48-bce5-bca9de8c1939 8ee15795-2e6c-4e56-a9e5-5e280ac8c57c g.chr9:97864024G>A ENST00000289081.3 - 15.0 1896 c.1642C>T c.(1642-1644)Cga>Tga p.R548* FANCC_ENST00000375305.1_Nonsense_Mutation_p.R548* NM_000136.2 NP_000127.2 Q00597 FANCC_HUMAN Fanconi anemia, complementation group C 548.0 DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) kidney(1)|skin(1)|upper_aerodigestive_tract(1) 3.0 Acute lymphoblastic leukemia(62;0.138) AGGAGCTCTCGGGCCAGTTTT 0.547 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia yes Rec Fanconi anaemia C 9 9q22.3 2176.0 """Fanconi anemia, complementation group C""" L 0 GRCh37 CM930241 FANCC M rs104886457 G stop/ARG 0,4406 0,0,2203 70.0 66.0 67.0 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 1642 2.4 1.0 9 dbSNP_132 67.0 1,8599 1.2+/-3.3 0,1,4299 yes stop-gained FANCC NM_000136.2 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 548/559 97864024.0 1,13005 2203.0 4300.0 6503.0 SO:0001587 stop_gained Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) BC006303 CCDS35071.1, CCDS75861.1 9q22.3 2014-09-17 ENSG00000158169 ENSG00000158169 2176.0 2176.0 """Fanconi anemia, complementation groups""" 3584.0 protein-coding gene gene with protein product 613899.0 FACC 1303234 Standard NM_000136 NM_001243743 Approved FAC, FA3 uc004avh.3 Q00597 OTTHUMG00000020279 ENST00000289081.3:c.1642C>T 9.__UNKNOWN__:g.97864024G>A ENSP00000289081:p.Arg548* B1ALR8 __UNKNOWN__ CCDS35071.1 . . . . . . . . . . G 23.8 4.454280 0.84209 0.0 1.16E-4 ENSG00000158169 ENST00000289081;ENST00000375305 . . . 4.76 2.43 0.29744 . 0.508870 0.21219 N 0.078170 . . . . . . 0.49687 A 0.999815 . . . . . . . . . . 0.02654 T 1 -3.1258 9.8369 0.40975 0.0:0.0:0.3843:0.6157 . . . . X 548 . ENSP00000289081:R548X R - 1 2 FANCC 96903845 0.921000 0.31238 0.999000 0.59377 0.152000 0.21847 0.367000 0.20382 0.335000 0.23614 -0.397000 0.06425 CGA FANCC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053219.1 - ENST00000289081.3 Nonsense_Mutation SNP PCPG-TCGA-RW-A68D-Normal-SM-5EQG7 EML5 161436 broad.mit.edu 37 14 89206879 89206879 + Missense_Mutation SNP C C T TCGA-RW-A68D-01A-11D-A35D-08 TCGA-RW-A68D-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f81b6d24-ffdc-4d48-bce5-bca9de8c1939 8ee15795-2e6c-4e56-a9e5-5e280ac8c57c g.chr14:89206879C>T ENST00000554922.1 - 5.0 811 c.563G>A c.(562-564)cGa>cAa p.R188Q EML5_ENST00000380664.5_Missense_Mutation_p.R188Q|EML5_ENST00000352093.5_Missense_Mutation_p.R188Q NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 188.0 cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874) catalytic activity (GO:0003824) breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50.0 AAAGACACCTCGTTTTGGGGT 0.368 0 143.0 135.0 138.0 14 89206879.0 1860.0 4102.0 5962.0 SO:0001583 missense AY357725 CCDS45148.1 14q31.3 2013-01-10 ENSG00000165521 161436.0 161436.0 """WD repeat domain containing""" 18197.0 protein-coding gene gene with protein product Standard NM_183387 Approved HuEMAP-2, EMAP-2 uc021ryf.1 Q05BV3 ENST00000554922.1:c.563G>A 14.__UNKNOWN__:g.89206879C>T ENSP00000451998:p.Arg188Gln B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03 __UNKNOWN__ CCDS45148.1 . . . . . . . . . . C 34 5.331765 0.95733 . . ENSG00000165521 ENST00000554922;ENST00000352093;ENST00000380664 T;T;T 0.21734 1.99;1.99;1.99 5.21 5.21 0.72293 WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.000000 0.64402 D 0.000001 T 0.35278 0.0926 L 0.52364 1.645 0.53005 D 0.999962 D 0.71674 0.998 P 0.59703 0.862 T 0.04268 -1.0964 10 0.11485 T 0.65 -7.7252 18.7549 0.91828 0.0:1.0:0.0:0.0 . 188 Q05BV3 EMAL5_HUMAN Q 188 ENSP00000451998:R188Q;ENSP00000298315:R188Q;ENSP00000370039:R188Q ENSP00000298315:R188Q R - 2 0 EML5 88276632 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.412000 0.80091 2.417000 0.82017 0.591000 0.81541 CGA EML5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000410488.2 - ENST00000554922.1 Missense_Mutation SNP PCPG-TCGA-RW-A68D-Normal-SM-5EQG7 ETV1 2115 broad.mit.edu 37 7 13975516 13975516 + Missense_Mutation SNP T T C TCGA-RW-A68D-01A-11D-A35D-08 TCGA-RW-A68D-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f81b6d24-ffdc-4d48-bce5-bca9de8c1939 8ee15795-2e6c-4e56-a9e5-5e280ac8c57c g.chr7:13975516T>C ENST00000405192.2 - 7.0 571 c.371A>G c.(370-372)tAt>tGt p.Y124C ETV1_ENST00000242066.5_Missense_Mutation_p.Y106C|ETV1_ENST00000403527.1_Missense_Mutation_p.Y84C|ETV1_ENST00000343495.5_Missense_Mutation_p.Y106C|ETV1_ENST00000405218.2_Missense_Mutation_p.Y124C|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000405358.4_Missense_Mutation_p.Y138C|ETV1_ENST00000430479.1_Missense_Mutation_p.Y124C|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000420159.2_Missense_Mutation_p.Y66C|ETV1_ENST00000403685.1_Missense_Mutation_p.Y106C NM_001163147.1 NP_001156619.1 P50549 ETV1_HUMAN ets variant 1 124.0 axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700) TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31.0 CTTCTGATCATAGGCACTACC 0.443 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" Dom yes 7 7p22 2115.0 ets variant gene 1 """M, E""" 0 80.0 79.0 80.0 7 13975516.0 1962.0 4155.0 6117.0 SO:0001583 missense CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1 7p22 2008-09-12 2008-09-12 ENSG00000006468 ENSG00000006468 2115.0 2115.0 3490.0 protein-coding gene gene with protein product 600541.0 """ets variant gene 1""" 1340465 Standard NM_004956 NM_004956 Approved ER81 uc003ssw.4 P50549 OTTHUMG00000152403 ENST00000405192.2:c.371A>G 7.__UNKNOWN__:g.13975516T>C ENSP00000385381:p.Tyr124Cys A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636 __UNKNOWN__ CCDS55087.1 . . . . . . . . . . T 19.68 3.872094 0.72180 . . ENSG00000006468 ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956 T;T;T;T;T;T;T;T;T;T 0.23950 1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88 5.83 5.83 0.93111 PEA3-type ETS-domain transcription factor, N-terminal (1); 0.120390 0.64402 D 0.000018 T 0.46927 0.1418 L 0.52266 1.64 0.80722 D 1 D;B;D;D;D;B 0.89917 1.0;0.05;1.0;0.999;1.0;0.395 D;B;D;D;D;B 0.87578 0.992;0.061;0.992;0.995;0.998;0.366 T 0.40117 -0.9580 10 0.62326 D 0.03 . 16.2579 0.82526 0.0:0.0:0.0:1.0 . 135;106;138;66;84;124 Q59GA7;P50549-2;B5MCT2;F5GXR2;E9PHB1;P50549 .;.;.;.;.;ETV1_HUMAN C 124;106;106;66;124;138;84;124;106;66 ENSP00000405327:Y124C;ENSP00000242066:Y106C;ENSP00000340853:Y106C;ENSP00000411626:Y66C;ENSP00000385381:Y124C;ENSP00000384085:Y138C;ENSP00000384138:Y84C;ENSP00000385551:Y124C;ENSP00000385686:Y106C;ENSP00000393078:Y66C ENSP00000242066:Y106C Y - 2 0 ETV1 13942041 1.000000 0.71417 1.000000 0.80357 0.918000 0.54935 7.652000 0.83633 2.250000 0.74265 0.529000 0.55759 TAT ETV1-005 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000326115.2 - ENST00000405192.2 Missense_Mutation SNP PCPG-TCGA-RW-A68D-Normal-SM-5EQG7 IL16 3603 broad.mit.edu 37 15 81591746 81591746 + Silent SNP C C T TCGA-RW-A68D-01A-11D-A35D-08 TCGA-RW-A68D-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f81b6d24-ffdc-4d48-bce5-bca9de8c1939 8ee15795-2e6c-4e56-a9e5-5e280ac8c57c g.chr15:81591746C>T ENST00000394660.2 + 14.0 2439 c.2079C>T c.(2077-2079)caC>caT p.H693H IL16_ENST00000560230.1_Intron|IL16_ENST00000302987.4_Silent_p.H693H|IL16_ENST00000394652.2_5'UTR NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 693.0 immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886) 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) 57.0 CGATAAAACACCCACTGCTTA 0.438 0 233.0 247.0 242.0 15 81591746.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U82972 CCDS10317.1, CCDS42069.1, CCDS53966.1 15q26.3 2011-07-14 2011-07-14 ENSG00000172349 ENSG00000172349 3603.0 3603.0 """Interleukins and interleukin receptors""" 5980.0 protein-coding gene gene with protein product """prointerleukin 16"", ""lymphocyte chemoattractant factor""" 603035.0 """interleukin 16 (lymphocyte chemoattractant factor)""" 9144227 Standard NM_172217 NM_004513 Approved LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806 uc021ssh.1 Q14005 OTTHUMG00000144186 ENST00000394660.2:c.2079C>T 15.__UNKNOWN__:g.81591746C>T A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18 __UNKNOWN__ CCDS53966.1 IL16-001 KNOWN basic|appris_candidate|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000291391.4 + ENST00000394660.2 Silent SNP PCPG-TCGA-RW-A68D-Normal-SM-5EQG7 CRAT 1384 broad.mit.edu 37 9 131862170 131862170 + Missense_Mutation SNP G G C TCGA-RW-A68D-01A-11D-A35D-08 TCGA-RW-A68D-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f81b6d24-ffdc-4d48-bce5-bca9de8c1939 8ee15795-2e6c-4e56-a9e5-5e280ac8c57c g.chr9:131862170G>C ENST00000318080.2 - 8.0 1354 c.1060C>G c.(1060-1062)Ctt>Gtt p.L354V RP11-247A12.1_ENST00000434250.1_RNA NM_000755.3|NM_001257363.1 NP_000746|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 354.0 carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810) endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777) carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13.0 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) TAGTCCAGAAGGGTGACAATA 0.557 0 94.0 82.0 86.0 9 131862170.0 2203.0 4300.0 6503.0 SO:0001583 missense X78706 CCDS6919.1 9q34.1 2010-04-27 2010-04-27 ENSG00000095321 ENSG00000095321 1384.0 1384.0 2.3.1.7 2342.0 protein-coding gene gene with protein product 600184.0 """carnitine acetyltransferase""" 7829107 Standard NM_000755 Approved CAT1 uc004bxh.3 P43155 OTTHUMG00000147343 ENST00000318080.2:c.1060C>G 9.__UNKNOWN__:g.131862170G>C ENSP00000315013:p.Leu354Val Q5T952|Q9BW16 __UNKNOWN__ CCDS6919.1 . . . . . . . . . . G 12.40 1.926501 0.34002 . . ENSG00000095321 ENST00000318080 D 0.91068 -2.78 5.04 5.04 0.67666 . 0.064907 0.64402 D 0.000019 D 0.92496 0.7617 M 0.74389 2.26 0.80722 D 1 P 0.48998 0.918 P 0.53224 0.721 D 0.92450 0.5969 10 0.59425 D 0.04 -29.6089 11.0467 0.47863 0.0839:0.0:0.9161:0.0 . 354 P43155 CACP_HUMAN V 354 ENSP00000315013:L354V ENSP00000315013:L354V L - 1 0 CRAT 130901991 1.000000 0.71417 0.113000 0.21522 0.102000 0.19082 3.829000 0.55760 2.619000 0.88677 0.561000 0.74099 CTT CRAT-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253700.1 - ENST00000318080.2 Missense_Mutation SNP PCPG-TCGA-RW-A68D-Normal-SM-5EQG7 SQRDL 58472 broad.mit.edu 37 15 45951173 45951173 + Missense_Mutation SNP T T A TCGA-RW-A68D-01A-11D-A35D-08 TCGA-RW-A68D-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f81b6d24-ffdc-4d48-bce5-bca9de8c1939 8ee15795-2e6c-4e56-a9e5-5e280ac8c57c g.chr15:45951173T>A ENST00000260324.7 + 2.0 438 c.52T>A c.(52-54)Tgc>Agc p.C18S RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.C18S|SQRDL_ENST00000568606.1_Missense_Mutation_p.C18S NM_021199.3 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 18.0 cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096) mitochondrial inner membrane (GO:0005743) sulfide:quinone oxidoreductase activity (GO:0070224) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11.0 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) GCTCTTTGCCTGCCTGCTCAG 0.647 0 14.0 16.0 15.0 15 45951173.0 2197.0 4296.0 6493.0 SO:0001583 missense AF042284 CCDS10127.1 15q21.1 2010-08-05 ENSG00000137767 ENSG00000137767 58472.0 58472.0 20390.0 protein-coding gene gene with protein product 10810093, 10224084 Standard NM_021199 Approved CGI-44 uc001zvu.4 Q9Y6N5 OTTHUMG00000131476 ENST00000260324.7:c.52T>A 15.__UNKNOWN__:g.45951173T>A ENSP00000260324:p.Cys18Ser Q9UQM8 __UNKNOWN__ CCDS10127.1 . . . . . . . . . . T 9.139 1.013276 0.19277 . . ENSG00000137767 ENST00000260324 T 0.39229 1.09 4.96 1.04 0.20106 . 0.858072 0.10812 N 0.631515 T 0.22666 0.0547 N 0.19112 0.55 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.24905 -1.0147 10 0.18710 T 0.47 . 4.5527 0.12120 0.0:0.1724:0.323:0.5046 . 18 Q9Y6N5 SQRD_HUMAN S 18 ENSP00000260324:C18S ENSP00000260324:C18S C + 1 0 SQRDL 43738465 0.001000 0.12720 0.413000 0.26509 0.924000 0.55760 0.404000 0.20999 0.228000 0.21019 0.533000 0.62120 TGC SQRDL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254319.2 + ENST00000260324.7 Missense_Mutation SNP PCPG-TCGA-RW-A68D-Normal-SM-5EQG7 EPAS1 2034 broad.mit.edu 37 2 46607406 46607406 + Missense_Mutation SNP A A G TCGA-RW-A68D-01A-11D-A35D-08 TCGA-RW-A68D-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f81b6d24-ffdc-4d48-bce5-bca9de8c1939 8ee15795-2e6c-4e56-a9e5-5e280ac8c57c g.chr2:46607406A>G ENST00000263734.3 + 12.0 2105 c.1595A>G c.(1594-1596)tAt>tGt p.Y532C NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 532.0 NTAD. angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601) cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134) 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) 39.0 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) CTGGCACCCTATATCCCCATG 0.587 0 84.0 92.0 89.0 2 46607406.0 2203.0 4300.0 6503.0 SO:0001583 missense U81984 CCDS1825.1 2p21-p16 2013-05-21 ENSG00000116016 ENSG00000116016 2034.0 2034.0 """Basic helix-loop-helix proteins""" 3374.0 protein-coding gene gene with protein product """HIF-1 alpha-like factor""" 603349.0 9000051, 9079689, 18378852 Standard NM_001430 NM_001430 Approved MOP2, PASD2, HIF2A, HLF, bHLHe73 uc002ruv.3 Q99814 OTTHUMG00000128818 ENST00000263734.3:c.1595A>G 2.__UNKNOWN__:g.46607406A>G ENSP00000263734:p.Tyr532Cys Q86VA2|Q99630 __UNKNOWN__ CCDS1825.1 . . . . . . . . . . A 22.1 4.246852 0.80024 . . ENSG00000116016 ENST00000263734 D 0.98400 -4.91 5.06 5.06 0.68205 . 0.000000 0.85682 D 0.000000 D 0.98673 0.9555 M 0.70595 2.14 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.99861 1.1083 10 0.87932 D 0 . 14.8316 0.70153 1.0:0.0:0.0:0.0 . 532 Q99814 EPAS1_HUMAN C 532 ENSP00000263734:Y532C ENSP00000263734:Y532C Y + 2 0 EPAS1 46460910 1.000000 0.71417 1.000000 0.80357 0.906000 0.53458 9.335000 0.96500 1.915000 0.55452 0.402000 0.26972 TAT EPAS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250752.2 + ENST00000263734.3 Missense_Mutation SNP PCPG-TCGA-RW-A68D-Normal-SM-5EQG7 DEPDC7 91614 broad.mit.edu 37 11 33047366 33047366 + Missense_Mutation SNP C C G TCGA-RW-A68D-01A-11D-A35D-08 TCGA-RW-A68D-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f81b6d24-ffdc-4d48-bce5-bca9de8c1939 8ee15795-2e6c-4e56-a9e5-5e280ac8c57c g.chr11:33047366C>G ENST00000241051.3 + 2.0 327 c.235C>G c.(235-237)Cta>Gta p.L79V DEPDC7_ENST00000311388.3_Missense_Mutation_p.L70V NM_001077242.1 NP_001070710.1 Q96QD5 DEPD7_HUMAN DEP domain containing 7 79.0 DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}. regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17.0 TTTTTCTCACCTAATTCAGAA 0.393 0 177.0 166.0 169.0 11 33047366.0 1879.0 4124.0 6003.0 SO:0001583 missense CCDS41632.1, CCDS41633.1 11p13 2006-03-24 ENSG00000121690 ENSG00000121690 91614.0 91614.0 29899.0 protein-coding gene gene with protein product 612294.0 10568747 Standard NM_139160 NM_001077242 Approved uc001mub.3 Q96QD5 OTTHUMG00000166242 ENST00000241051.3:c.235C>G 11.__UNKNOWN__:g.33047366C>G ENSP00000241051:p.Leu79Val G5E941|Q8N602|Q8NCU9|Q9UGK5 __UNKNOWN__ CCDS41632.1 . . . . . . . . . . C 17.85 3.490770 0.64074 . . ENSG00000121690 ENST00000241051;ENST00000311388 T;T 0.13538 2.58;2.58 6.04 2.13 0.27403 DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1); 0.070787 0.56097 D 0.000024 T 0.32071 0.0817 M 0.73372 2.23 0.43408 D 0.995541 D;D;D;D 0.71674 0.998;0.985;0.996;0.992 D;P;P;P 0.74023 0.982;0.824;0.861;0.871 T 0.01488 -1.1342 10 0.72032 D 0.01 -5.2161 10.2438 0.43328 0.0:0.7332:0.0:0.2668 . 79;79;70;79 B4DJ78;B4DH51;G5E941;Q96QD5 .;.;.;DEPD7_HUMAN V 79;70 ENSP00000241051:L79V;ENSP00000308971:L70V ENSP00000241051:L79V L + 1 2 DEPDC7 33003942 0.670000 0.27512 0.821000 0.32701 0.984000 0.73092 1.250000 0.32850 0.147000 0.19030 -0.258000 0.10820 CTA DEPDC7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000388655.1 + ENST00000241051.3 Missense_Mutation SNP PCPG-TCGA-RW-A68D-Normal-SM-5EQG7 ALMS1 7840 broad.mit.edu 37 2 73677777 73677777 + Missense_Mutation SNP A A G TCGA-RW-A68D-01A-11D-A35D-08 TCGA-RW-A68D-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f81b6d24-ffdc-4d48-bce5-bca9de8c1939 8ee15795-2e6c-4e56-a9e5-5e280ac8c57c g.chr2:73677777A>G ENST00000264448.6 + 8.0 4231 c.4120A>G c.(4120-4122)Act>Gct p.T1374A ALMS1_ENST00000377715.1_Missense_Mutation_p.T1374A|ALMS1_ENST00000409009.1_Missense_Mutation_p.T1332A NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1374.0 34 X 47 AA approximate tandem repeat. endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492) centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829) p.T1374A(1) 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) 147.0 TGGCACACCAACTGTAACCTC 0.443 1 Substitution - Missense(1) lung(1) 83.0 85.0 85.0 2 73677777.0 1864.0 4096.0 5960.0 SO:0001583 missense AB002326 CCDS42697.1 2p13.1 2014-09-17 ENSG00000116127 ENSG00000116127 7840.0 7840.0 428.0 protein-coding gene gene with protein product 606844.0 9063741 Standard NM_015120 NM_015120 Approved KIAA0328 uc002sje.1 Q8TCU4 OTTHUMG00000152812 ENST00000264448.6:c.4120A>G 2.__UNKNOWN__:g.73677777A>G ENSP00000264448:p.Thr1374Ala Q53S05|Q580Q8|Q86VP9|Q9Y4G4 __UNKNOWN__ CCDS42697.1 . . . . . . . . . . A 11.93 1.784251 0.31593 . . ENSG00000116127 ENST00000409009;ENST00000264448;ENST00000377715 T;T;T 0.14391 3.41;3.41;2.51 3.23 -0.789 0.10935 . . . . . T 0.07683 0.0193 L 0.28192 0.835 0.09310 N 1 B;P;P 0.37955 0.008;0.612;0.612 B;B;B 0.34590 0.01;0.186;0.186 T 0.28138 -1.0053 9 0.42905 T 0.14 . 4.312 0.10976 0.4675:0.4132:0.1194:0.0 . 1374;1332;1374 Q8TCU4-3;B8ZZJ3;Q8TCU4 .;.;ALMS1_HUMAN A 1332;1374;1374 ENSP00000386627:T1332A;ENSP00000264448:T1374A;ENSP00000366944:T1374A ENSP00000264448:T1374A T + 1 0 ALMS1 73531285 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 -1.389000 0.02530 -0.146000 0.11274 0.459000 0.35465 ACT ALMS1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000327776.1 + ENST00000264448.6 Missense_Mutation SNP PCPG-TCGA-RW-A68D-Normal-SM-5EQG7 SLC30A5 64924 broad.mit.edu 37 5 68412389 68412389 + Missense_Mutation SNP G G C TCGA-RW-A68D-01A-11D-A35D-08 TCGA-RW-A68D-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f81b6d24-ffdc-4d48-bce5-bca9de8c1939 8ee15795-2e6c-4e56-a9e5-5e280ac8c57c g.chr5:68412389G>C ENST00000396591.3 + 10.0 1851 c.1241G>C c.(1240-1242)aGt>aCt p.S414T CTC-498J12.3_ENST00000504129.1_RNA NM_022902.4 NP_075053.2 Q8TAD4 ZNT5_HUMAN solute carrier family 30 (zinc transporter), member 5 414.0 cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829) apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667) zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25.0 Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) CTTGAGGAGAGTGACTCTAGG 0.333 0 62.0 65.0 64.0 5 68412389.0 2203.0 4300.0 6503.0 SO:0001583 missense AF212235 CCDS3996.1, CCDS34173.1, CCDS58955.1 5q13.1 2013-05-22 ENSG00000145740 ENSG00000145740 64924.0 64924.0 """Solute carriers""" 19089.0 protein-coding gene gene with protein product 607819.0 11937503, 11904301 Standard NM_022902 Approved ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1 uc003jvh.3 Q8TAD4 OTTHUMG00000131253 ENST00000396591.3:c.1241G>C 5.__UNKNOWN__:g.68412389G>C ENSP00000379836:p.Ser414Thr B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1 __UNKNOWN__ CCDS3996.1 . . . . . . . . . . G 11.09 1.536808 0.27475 . . ENSG00000145740 ENST00000396591;ENST00000438236 T 0.65364 -0.15 5.87 4.94 0.65067 . 0.132704 0.64402 D 0.000001 T 0.46014 0.1371 L 0.33189 0.99 0.80722 D 1 B;B;B 0.21520 0.024;0.057;0.024 B;B;B 0.28305 0.017;0.088;0.017 T 0.32188 -0.9916 10 0.14656 T 0.56 . 5.253 0.15532 0.4716:0.0:0.5284:0.0 . 243;243;414 Q9H9X0;Q8TAD4-2;Q8TAD4 .;.;ZNT5_HUMAN T 414;27 ENSP00000379836:S414T ENSP00000379836:S414T S + 2 0 SLC30A5 68448145 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 5.234000 0.65343 1.455000 0.47813 0.655000 0.94253 AGT SLC30A5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254017.2 + ENST00000396591.3 Missense_Mutation SNP PCPG-TCGA-RW-A68D-Normal-SM-5EQG7 RARG 5916 broad.mit.edu 37 12 53609167 53609167 + Missense_Mutation SNP C C T TCGA-RW-A68D-01A-11D-A35D-08 TCGA-RW-A68D-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f81b6d24-ffdc-4d48-bce5-bca9de8c1939 8ee15795-2e6c-4e56-a9e5-5e280ac8c57c g.chr12:53609167C>T ENST00000425354.2 - 5.0 872 c.385G>A c.(385-387)Gac>Aac p.D129N RARG_ENST00000327550.3_Missense_Mutation_p.D57N|RARG_ENST00000394426.1_Missense_Mutation_p.D129N|RARG_ENST00000338561.5_Missense_Mutation_p.D118N|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.D107N NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 129.0 anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367) integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270) breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20.0 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755) CAGTTTTTGTCGCGGTGACAC 0.537 0 249.0 193.0 212.0 12 53609167.0 2203.0 4300.0 6503.0 SO:0001583 missense M57707 CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1 12q13 2013-01-16 ENSG00000172819 ENSG00000172819 5916.0 5916.0 """Nuclear hormone receptors""" 9866.0 protein-coding gene gene with protein product 180190.0 1849262 Standard NM_000966 NM_001042728 Approved RARC, NR1B3 uc001scf.3 P13631 OTTHUMG00000048077 ENST00000425354.2:c.385G>A 12.__UNKNOWN__:g.53609167C>T ENSP00000388510:p.Asp129Asn B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38 __UNKNOWN__ CCDS8850.1 . . . . . . . . . . C 18.10 3.549352 0.65311 . . ENSG00000172819 ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265 D;D;D;D;D 0.97066 -4.23;-4.23;-4.23;-4.23;-4.23 4.45 4.45 0.53987 Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3); 0.055994 0.64402 D 0.000002 D 0.94670 0.8281 N 0.03016 -0.435 0.80722 D 1 P;D;D;P 0.89917 0.758;1.0;1.0;0.535 B;D;D;B 0.87578 0.163;0.995;0.998;0.229 D 0.92259 0.5815 10 0.12103 T 0.63 . 16.3946 0.83586 0.0:1.0:0.0:0.0 . 166;107;129;118 F8VR45;B7Z4F1;P13631;F1D8P1 .;.;RARG_HUMAN;. N 129;129;57;118;107;166 ENSP00000388510:D129N;ENSP00000377947:D129N;ENSP00000332695:D57N;ENSP00000343698:D118N;ENSP00000444335:D107N ENSP00000332695:D57N D - 1 0 RARG 51895434 1.000000 0.71417 0.980000 0.43619 0.779000 0.44077 7.590000 0.82653 2.471000 0.83476 0.591000 0.81541 GAC RARG-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000109404.2 - ENST00000425354.2 Missense_Mutation SNP PCPG-TCGA-RW-A68D-Normal-SM-5EQG7 CD300LG 146894 broad.mit.edu 37 17 41926251 41926251 + Silent SNP C C T TCGA-RW-A68D-01A-11D-A35D-08 TCGA-RW-A68D-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f81b6d24-ffdc-4d48-bce5-bca9de8c1939 8ee15795-2e6c-4e56-a9e5-5e280ac8c57c g.chr17:41926251C>T ENST00000317310.4 + 2.0 410 c.369C>T c.(367-369)ttC>ttT p.F123F CD300LG_ENST00000293396.8_Silent_p.F123F|CD300LG_ENST00000588884.1_Silent_p.F123F|CD300LG_ENST00000539718.1_Silent_p.F123F|CD300LG_ENST00000377203.4_Silent_p.F123F|CD300LG_ENST00000586233.1_Silent_p.F123F NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g 123.0 immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19.0 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) TCTCTCTGTTCGTCTTTCCAG 0.557 0 84.0 75.0 78.0 17 41926251.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC025395 CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1 17q21.31 2013-01-11 2006-03-29 146894.0 146894.0 """Immunoglobulin superfamily / V-set domain containing""" 30455.0 protein-coding gene gene with protein product """nepmucin""" 610520.0 """CD300 antigen like family member G""" 16876123, 16754720 Standard NM_145273 NM_001168322 Approved Trem4, CLM9 uc002iem.3 Q6UXG3 ENST00000317310.4:c.369C>T 17.__UNKNOWN__:g.41926251C>T B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95 __UNKNOWN__ CCDS11470.1 CD300LG-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000457646.1 + ENST00000317310.4 Silent SNP PCPG-TCGA-RW-A68D-Normal-SM-5EQG7 SCN4A 6329 broad.mit.edu 37 17 62050057 62050057 + Missense_Mutation SNP C C T TCGA-RW-A68D-01A-11D-A35D-08 TCGA-RW-A68D-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f81b6d24-ffdc-4d48-bce5-bca9de8c1939 8ee15795-2e6c-4e56-a9e5-5e280ac8c57c g.chr17:62050057C>T ENST00000578147.1 - 1.0 221 c.145G>A c.(145-147)Gag>Aag p.E49K SCN4A_ENST00000435607.1_Missense_Mutation_p.E49K P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 49.0 membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518) voltage-gated sodium channel activity (GO:0005248) 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) 101.0 Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909) CGTTCGGGCTCCTCAATCTCC 0.637 0 C LYS/GLU 0,4176 0,0,2088 30.0 34.0 33.0 145 4.4 0.9 17 33.0 1,8427 0,1,4213 no missense SCN4A NM_000334.4 56 0,1,6301 TT,TC,CC 0.0119,0.0,0.0079 benign 49/1837 62050057.0 1,12603 2088.0 4214.0 6302.0 SO:0001583 missense U24693 17q23.3 2012-02-26 2007-01-23 6329.0 6329.0 """Sodium channels"", ""Voltage-gated ion channels / Sodium channels""" 10591.0 protein-coding gene gene with protein product 603967.0 HYKPP 1654742, 1659948, 16382098 Standard NM_000334 XM_005257566 Approved Nav1.4, HYPP, SkM1 uc002jds.1 P35499 ENST00000578147.1:c.145G>A 17.__UNKNOWN__:g.62050057C>T ENSP00000463963:p.Glu49Lys Q15478|Q16447|Q7Z6B1 __UNKNOWN__ . . . . . . . . . . C 18.65 3.668982 0.67814 0.0 1.19E-4 ENSG00000007314 ENST00000435607 D 0.97138 -4.26 4.39 4.39 0.52855 . 0.050121 0.85682 D 0.000000 D 0.96156 0.8747 M 0.74881 2.28 0.58432 D 0.999996 B 0.13594 0.008 B 0.12837 0.008 D 0.94941 0.8091 10 0.59425 D 0.04 . 16.1086 0.81244 0.0:1.0:0.0:0.0 . 49 P35499 SCN4A_HUMAN K 49 ENSP00000396320:E49K ENSP00000396320:E49K E - 1 0 SCN4A 59403789 1.000000 0.71417 0.943000 0.38184 0.628000 0.37860 5.714000 0.68422 2.283000 0.76528 0.305000 0.20034 GAG SCN4A-001 KNOWN non_canonical_U12|basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000444562.1 - ENST00000578147.1 Missense_Mutation SNP PCPG-TCGA-RW-A68D-Normal-SM-5EQG7 GNAS 2778 unc.edu 37 20 57484437 57484437 + Silent SNP A A T TCGA-RW-A68D-01A-11D-A35D-08 TCGA-RW-A68D-10A-01D-A35B-08 Untested Somatic Phase_I WXS;RNA-Seq none Illumina HiSeq f81b6d24-ffdc-4d48-bce5-bca9de8c1939 8ee15795-2e6c-4e56-a9e5-5e280ac8c57c g.chr20:57484437A>T ENST00000371095.3 + 7.0 1001 c.576A>T c.(574-576)ggA>ggT p.G192G GNAS_ENST00000306090.10_Silent_p.G192G|GNAS_ENST00000265620.7_Silent_p.G191G|GNAS_ENST00000371102.4_Silent_p.G835G|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Silent_p.G207G|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371085.3_Silent_p.G206G|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371100.4_Silent_p.G849G P63092 GNAS2_HUMAN GNAS complex locus 206.0 activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588) adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871) 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) 441.0 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) TGACTTCTGGAATCTTTGAGA 0.423 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) Colon(117;935 1597 6045 8307 46442) Dom yes 20 20q13.2 2778.0 """guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1""" yes E 0 81.0 80.0 80.0 20 57484437.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant M21142 CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1 20q13.2-q13.3 2010-03-01 2001-12-19 2001-12-20 ENSG00000087460 ENSG00000087460 2778.0 2778.0 4392.0 protein-coding gene gene with protein product """secretogranin VI""" 139320 """guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1""" GNAS1 Standard NM_000516 NM_000516 Approved NESP55, NESP, GNASXL, GPSA, SCG6 uc002xzw.3 O95467 OTTHUMG00000033069 ENST00000371095.3:c.576A>T 20.__UNKNOWN__:g.57484437A>T A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70 __UNKNOWN__ CCDS46624.1 GNAS-017 KNOWN non_canonical_TEC|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000080433.1 + ENST00000371095.3 Silent SNP PCPG-TCGA-RW-A68D-Normal-SM-5EQG7 QRFPR 84109 broad.mit.edu 37 4 122250693 122250693 + Missense_Mutation SNP G G C TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr4:122250693G>C ENST00000394427.2 - 6.0 1483 c.1072C>G c.(1072-1074)Cca>Gca p.P358A QRFPR_ENST00000334383.5_3'UTR NM_198179.2 NP_937822.2 Q96P65 QRFPR_HUMAN pyroglutamylated RFamide peptide receptor 358.0 G-protein coupled receptor signaling pathway (GO:0007186) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983) endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1) 28.0 CTTTGTGCTGGAGAGAAGGTT 0.368 0 134.0 132.0 133.0 4 122250693.0 2203.0 4300.0 6503.0 SO:0001583 missense AF411117 CCDS3719.1 4q27 2012-08-10 2008-12-18 2008-12-18 ENSG00000186867 ENSG00000186867 84109.0 84109.0 """GPCR / Class A : RF amide peptide receptors""" 15565.0 protein-coding gene gene with protein product 606925.0 """G protein-coupled receptor 103""" GPR103 11574155 Standard NM_198179 NM_198179 Approved uc010inj.1 Q96P65 OTTHUMG00000133036 ENST00000394427.2:c.1072C>G 4.__UNKNOWN__:g.122250693G>C ENSP00000377948:p.Pro358Ala __UNKNOWN__ CCDS3719.1 . . . . . . . . . . G 18.74 3.688663 0.68271 . . ENSG00000186867 ENST00000394427 T 0.36699 1.24 5.32 5.32 0.75619 . 0.073596 0.56097 D 0.000023 T 0.27278 0.0669 L 0.36672 1.1 0.80722 D 1 P 0.48294 0.908 B 0.41860 0.368 T 0.03795 -1.1003 10 0.08837 T 0.75 . 13.3168 0.60411 0.0764:0.0:0.9236:0.0 . 358 Q96P65 QRFPR_HUMAN A 358 ENSP00000377948:P358A ENSP00000377948:P358A P - 1 0 QRFPR 122470143 1.000000 0.71417 0.738000 0.30950 0.439000 0.31926 2.572000 0.45999 2.499000 0.84300 0.491000 0.48974 CCA QRFPR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256641.2 - ENST00000394427.2 Missense_Mutation SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM MACROD1 28992 broad.mit.edu 37 11 63767229 63767229 + Missense_Mutation SNP A A G TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr11:63767229A>G ENST00000255681.6 - 6.0 737 c.671T>C c.(670-672)aTc>aCc p.I224T OTUB1_ENST00000535715.1_Intron NM_014067.3 NP_054786.2 Q9BQ69 MACD1_HUMAN MACRO domain containing 1 224.0 Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}. cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278) mitochondrion (GO:0005739)|nucleus (GO:0005634) deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798) breast(1)|large_intestine(3)|lung(6)|skin(1) 11.0 CACTGTGTGGATGACGTCTAC 0.701 0 11.0 15.0 13.0 11 63767229.0 2150.0 4213.0 6363.0 SO:0001583 missense AF202922 CCDS8056.1 11q13.1 2007-07-24 2007-06-11 ENSG00000133315 ENSG00000133315 28992.0 28992.0 29598.0 protein-coding gene gene with protein product 610400.0 15691879 Standard NM_014067 NM_014067 Approved LRP16 uc001nyh.3 Q9BQ69 OTTHUMG00000167843 ENST00000255681.6:c.671T>C 11.__UNKNOWN__:g.63767229A>G ENSP00000255681:p.Ile224Thr Q9UH96 __UNKNOWN__ CCDS8056.1 . . . . . . . . . . A 15.38 2.815861 0.50527 . . ENSG00000133315 ENST00000255681 T 0.33438 1.41 3.77 3.77 0.43336 Appr-1-p processing (3); 0.000000 0.52532 U 0.000067 T 0.70307 0.3209 H 0.99464 4.58 0.52099 D 0.999949 D 0.89917 1.0 D 0.87578 0.998 T 0.78919 -0.2014 10 0.87932 D 0 -16.7618 9.1662 0.37052 1.0:0.0:0.0:0.0 . 224 Q9BQ69 MACD1_HUMAN T 224 ENSP00000255681:I224T ENSP00000255681:I224T I - 2 0 MACROD1 63523805 1.000000 0.71417 1.000000 0.80357 0.264000 0.26372 1.498000 0.35660 1.499000 0.48617 0.260000 0.18958 ATC MACROD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000396570.1 - ENST00000255681.6 Missense_Mutation SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM RNF149 284996 broad.mit.edu 37 2 101893717 101893717 + Missense_Mutation SNP C C T TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr2:101893717C>T ENST00000295317.3 - 7.0 1293 c.1186G>A c.(1186-1188)Gga>Aga p.G396R NM_173647.3 NP_775918.2 Q8NC42 RN149_HUMAN ring finger protein 149 396.0 cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12.0 ATGGGTCCTCCATGCCGAGAG 0.458 Colon(25;331 612 6521 7355 31028) 0 48.0 48.0 48.0 2 101893717.0 2203.0 4300.0 6503.0 SO:0001583 missense AK074985 CCDS2051.1 2q12.1 2013-01-09 ENSG00000163162 ENSG00000163162 284996.0 284996.0 """RING-type (C3HC4) zinc fingers""" 23137.0 protein-coding gene gene with protein product Standard NM_173647 NM_173647 Approved FLJ90504 uc002taz.2 Q8NC42 OTTHUMG00000130685 ENST00000295317.3:c.1186G>A 2.__UNKNOWN__:g.101893717C>T ENSP00000295317:p.Gly396Arg Q53S14|Q8N5I8|Q8NBY5|Q8WUU3 __UNKNOWN__ CCDS2051.1 . . . . . . . . . . C 12.26 1.884821 0.33255 . . ENSG00000163162 ENST00000295317 T 0.09911 2.93 4.65 4.65 0.58169 . 0.583811 0.16579 N 0.208283 T 0.12475 0.0303 L 0.34521 1.04 0.09310 N 0.999996 P 0.44627 0.839 P 0.44394 0.448 T 0.08576 -1.0715 10 0.87932 D 0 . 13.3989 0.60870 0.0:1.0:0.0:0.0 . 396 Q8NC42 RN149_HUMAN R 396 ENSP00000295317:G396R ENSP00000295317:G396R G - 1 0 RNF149 101260149 0.963000 0.33076 0.010000 0.14722 0.006000 0.05464 3.398000 0.52579 2.306000 0.77630 0.563000 0.77884 GGA RNF149-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253180.2 - ENST00000295317.3 Missense_Mutation SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM SLC35C1 55343 broad.mit.edu 37 11 45827751 45827751 + Silent SNP C C G TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr11:45827751C>G ENST00000314134.3 + 1.0 1795 c.399C>G c.(397-399)ctC>ctG p.L133L SLC35C1_ENST00000442528.2_Silent_p.L120L|SLC35C1_ENST00000456334.1_Silent_p.L120L NM_018389.4 NP_060859.4 Q96A29 FUCT1_HUMAN solute carrier family 35 (GDP-fucose transporter), member C1 133.0 carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10.0 GBM - Glioblastoma multiforme(35;0.227) TCAATAACCTCTGCCTCAAGT 0.607 0 146.0 106.0 120.0 11 45827751.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant CCDS7914.1, CCDS44575.1 11p11.2 2014-09-17 2013-07-17 ENSG00000181830 55343.0 55343.0 """Solute carriers""" 20197.0 protein-coding gene gene with protein product 605881.0 """solute carrier family 35, member C1""" 11326279, 11326280 Standard NM_018389 NM_018389 Approved FUCT1, FLJ11320 uc010rgm.2 Q96A29 ENST00000314134.3:c.399C>G 11.__UNKNOWN__:g.45827751C>G B2RDB2|Q9BV76|Q9NUJ8 __UNKNOWN__ CCDS7914.1 SLC35C1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390139.1 + ENST00000314134.3 Silent SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM CCR8 1237 broad.mit.edu 37 3 39374010 39374010 + Missense_Mutation SNP G G A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr3:39374010G>A ENST00000326306.4 + 2.0 326 c.188G>A c.(187-189)tGc>tAc p.C63Y CCR8_ENST00000545843.1_Intron|CCR8_ENST00000414803.1_Intron NM_005201.3 NP_005192.1 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 63.0 cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026) NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21.0 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) CTTGTGGTCTGCAAGAAGCTG 0.478 0 242.0 217.0 225.0 3 39374010.0 2203.0 4300.0 6503.0 SO:0001583 missense D49919 CCDS2684.1 3p22 2012-08-08 ENSG00000179934 ENSG00000179934 1237.0 1237.0 """GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules""" 1609.0 protein-coding gene gene with protein product 601834.0 CMKBRL2, CMKBR8 8816377, 8886020 Standard NM_005201 NM_005201 Approved CY6, TER1, CKR-L1, GPR-CY6, CDw198 uc010hhr.2 P51685 OTTHUMG00000131290 ENST00000326306.4:c.188G>A 3.__UNKNOWN__:g.39374010G>A ENSP00000326432:p.Cys63Tyr B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5 __UNKNOWN__ CCDS2684.1 . . . . . . . . . . G 3.474 -0.107220 0.06924 . . ENSG00000179934 ENST00000326306 T 0.71103 -0.54 4.97 3.11 0.35812 GPCR, rhodopsin-like superfamily (1); 0.404790 0.27193 N 0.020498 T 0.45094 0.1325 N 0.12887 0.27 0.80722 D 1 B 0.09022 0.002 B 0.08055 0.003 T 0.20273 -1.0280 10 0.07644 T 0.81 . 7.9895 0.30231 0.2838:0.0:0.7162:0.0 . 63 P51685 CCR8_HUMAN Y 63 ENSP00000326432:C63Y ENSP00000326432:C63Y C + 2 0 CCR8 39349014 0.000000 0.05858 0.992000 0.48379 0.513000 0.34164 0.248000 0.18198 0.633000 0.30452 -0.244000 0.11960 TGC CCR8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254058.2 + ENST00000326306.4 Missense_Mutation SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM GPR155 151556 broad.mit.edu 37 2 175337871 175337871 + Missense_Mutation SNP C C A rs146408702 TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr2:175337871C>A ENST00000392552.2 - 3.0 920 c.682G>T c.(682-684)Gcc>Tcc p.A228S GPR155_ENST00000295500.4_Missense_Mutation_p.A228S|GPR155_ENST00000392551.2_Missense_Mutation_p.A228S NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 228.0 cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26.0 AAATTGAAGGCGATGCCAATG 0.358 0 63.0 66.0 65.0 2 175337871.0 2203.0 4300.0 6503.0 SO:0001583 missense AY255528 CCDS2259.1, CCDS74605.1 2q31.1 2012-04-10 ENSG00000163328 ENSG00000163328 151556.0 151556.0 22951.0 protein-coding gene gene with protein product 12679517 Standard NM_152529 NM_001033045 Approved DEPDC3, DEP.7, FLJ31819, PGR22 uc002uiu.4 Q7Z3F1 OTTHUMG00000132336 ENST00000392552.2:c.682G>T 2.__UNKNOWN__:g.175337871C>A ENSP00000376335:p.Ala228Ser B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6 __UNKNOWN__ CCDS2259.1 . . . . . . . . . . C 20.5 4.009436 0.75046 . . ENSG00000163328 ENST00000392552;ENST00000392551;ENST00000295500 T;T;T 0.50001 0.76;0.76;0.76 5.54 5.54 0.83059 . 0.151797 0.64402 D 0.000013 T 0.56992 0.2023 L 0.50333 1.59 0.43321 D 0.995341 D 0.58620 0.983 P 0.56278 0.795 T 0.58842 -0.7565 10 0.66056 D 0.02 -10.9702 13.7395 0.62838 0.0:0.9264:0.0:0.0736 . 228 Q7Z3F1 GP155_HUMAN S 228 ENSP00000376335:A228S;ENSP00000376334:A228S;ENSP00000295500:A228S ENSP00000295500:A228S A - 1 0 GPR155 175046117 1.000000 0.71417 1.000000 0.80357 0.951000 0.60555 3.201000 0.51059 2.577000 0.86979 0.655000 0.94253 GCC GPR155-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255455.1 - ENST00000392552.2 Missense_Mutation SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM TMEM2 23670 broad.mit.edu 37 9 74360015 74360015 + Missense_Mutation SNP G G A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr9:74360015G>A ENST00000377044.4 - 4.0 1492 c.953C>T c.(952-954)gCc>gTc p.A318V TMEM2_ENST00000377066.5_Missense_Mutation_p.A318V NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 318.0 multicellular organismal development (GO:0007275) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56.0 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) ACTTTTAGCGGCTGAATCCCC 0.507 0 138.0 129.0 132.0 9 74360015.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS6638.1, CCDS47979.1 9q21.13 2011-07-19 ENSG00000135048 ENSG00000135048 23670.0 23670.0 11869.0 protein-coding gene gene with protein product 605835.0 Standard NM_013390 NM_013390 Approved uc011lsa.1 Q9UHN6 OTTHUMG00000020000 ENST00000377044.4:c.953C>T 9.__UNKNOWN__:g.74360015G>A ENSP00000366243:p.Ala318Val A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5 __UNKNOWN__ CCDS6638.1 . . . . . . . . . . G 19.13 3.768401 0.69878 . . ENSG00000135048 ENST00000377044;ENST00000377066 T;T 0.76709 -1.01;-1.04 6.03 6.03 0.97812 . 0.000000 0.85682 D 0.000000 T 0.77638 0.4160 M 0.69823 2.125 0.80722 D 1 B;P 0.36990 0.441;0.577 B;B 0.38428 0.141;0.273 T 0.77566 -0.2540 10 0.46703 T 0.11 . 13.7134 0.62682 0.0699:0.0:0.9301:0.0 . 318;318 Q9UHN6;Q9UHN6-2 TMEM2_HUMAN;. V 318 ENSP00000366243:A318V;ENSP00000366266:A318V ENSP00000366243:A318V A - 2 0 TMEM2 73549835 1.000000 0.71417 0.996000 0.52242 0.724000 0.41520 7.415000 0.80131 2.861000 0.98227 0.655000 0.94253 GCC TMEM2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052618.2 - ENST00000377044.4 Missense_Mutation SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM FZD8 8325 broad.mit.edu 37 10 35928890 35928890 + Missense_Mutation SNP C C A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr10:35928890C>A ENST00000374694.1 - 1.0 1472 c.1468G>T c.(1468-1470)Gtc>Ttc p.V490F NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled class receptor 8 490.0 axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944) cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11.0 AGGTAGATGACCAGCGGCGCC 0.662 0 49.0 40.0 43.0 10 35928890.0 2203.0 4300.0 6503.0 SO:0001583 missense AB043703 CCDS7192.1 10p11.2 2014-01-29 2014-01-29 ENSG00000177283 ENSG00000177283 8325.0 8325.0 """GPCR / Class F : Frizzled receptors""" 4046.0 protein-coding gene gene with protein product 606146.0 """frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8""" 11295046 Standard NM_031866 NM_031866 Approved uc001iyz.1 Q9H461 OTTHUMG00000017956 ENST00000374694.1:c.1468G>T 10.__UNKNOWN__:g.35928890C>A ENSP00000363826:p.Val490Phe __UNKNOWN__ CCDS7192.1 . . . . . . . . . . C 7.844 0.722464 0.15439 . . ENSG00000177283 ENST00000374694 D 0.82344 -1.6 3.81 3.81 0.43845 GPCR, family 2-like (1); 0.000000 0.64402 U 0.000008 T 0.67627 0.2913 N 0.10685 0.025 0.46774 D 0.999193 B 0.31640 0.333 B 0.40329 0.326 T 0.64394 -0.6418 10 0.02654 T 1 . 12.2614 0.54652 0.0:0.7731:0.2269:0.0 . 490 Q9H461 FZD8_HUMAN F 490 ENSP00000363826:V490F ENSP00000363826:V490F V - 1 0 FZD8 35968896 0.999000 0.42202 1.000000 0.80357 0.318000 0.28184 2.411000 0.44600 2.104000 0.64026 0.289000 0.19496 GTC FZD8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047575.2 - ENST00000374694.1 Missense_Mutation SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM WASF3 10810 broad.mit.edu 37 13 27255299 27255299 + Silent SNP C C T TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr13:27255299C>T ENST00000335327.5 + 8.0 1003 c.825C>T c.(823-825)caC>caT p.H275H WASF3_ENST00000361042.4_Silent_p.H272H NM_006646.5 NP_006637.2 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 275.0 actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027) breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22.0 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) TGCCACCACACGGGCCTGCAA 0.652 0 C 0,4406 0,0,2203 69.0 76.0 73.0 825 -11.7 0.0 13 73.0 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous WASF3 NM_006646.5 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 275/503 27255299.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB020707 CCDS9318.1 13q12 2008-06-23 ENSG00000132970 ENSG00000132970 10810.0 10810.0 12734.0 protein-coding gene gene with protein product 605068.0 10381382 Standard NM_006646 Approved WAVE3, SCAR3, KIAA0900 uc001uqv.3 Q9UPY6 OTTHUMG00000016621 ENST00000335327.5:c.825C>T 13.__UNKNOWN__:g.27255299C>T O94974|Q86VQ2 __UNKNOWN__ CCDS9318.1 WASF3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044258.1 + ENST00000335327.5 Silent SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM RAB35 11021 broad.mit.edu 37 12 120536942 120536942 + Missense_Mutation SNP G G A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr12:120536942G>A ENST00000229340.5 - 4.0 432 c.244C>T c.(244-246)Cac>Tac p.H82Y RAB35_ENST00000534951.1_Missense_Mutation_p.H82Y|RAB35_ENST00000543364.1_5'UTR NM_001167606.1|NM_006861.6 NP_001161078.1|NP_006852.1 Q15286 RAB35_HUMAN RAB35, member RAS oncogene family 82.0 antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) endometrium(1)|ovary(1) 2.0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.248) ATGACCCCGTGGGTCCCCCGA 0.597 0 68.0 73.0 71.0 12 120536942.0 2043.0 4193.0 6236.0 SO:0001583 missense X79781 CCDS41846.1, CCDS53836.1 12q24 2008-07-28 ENSG00000111737 ENSG00000111737 11021.0 11021.0 """RAB, member RAS oncogene""" 9774.0 protein-coding gene gene with protein product 604199.0 Standard NM_001167606 Approved H-ray uc009zww.2 Q15286 OTTHUMG00000169159 ENST00000229340.5:c.244C>T 12.__UNKNOWN__:g.120536942G>A ENSP00000229340:p.His82Tyr B2R6E0|B4E390 __UNKNOWN__ CCDS41846.1 . . . . . . . . . . G 27.4 4.824260 0.90955 . . ENSG00000111737 ENST00000229340;ENST00000534951 T;T 0.80824 -1.42;-1.42 4.83 4.83 0.62350 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.89213 0.6651 M 0.70903 2.155 0.80722 D 1 D;D 0.89917 0.999;1.0 D;D 0.97110 0.968;1.0 D 0.90299 0.4328 10 0.72032 D 0.01 . 18.1178 0.89561 0.0:0.0:1.0:0.0 . 82;82 B4E390;Q15286 .;RAB35_HUMAN Y 82 ENSP00000229340:H82Y;ENSP00000441883:H82Y ENSP00000229340:H82Y H - 1 0 RAB35 119021325 1.000000 0.71417 0.998000 0.56505 0.892000 0.51952 9.578000 0.98200 2.500000 0.84329 0.555000 0.69702 CAC RAB35-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402599.2 - ENST00000229340.5 Missense_Mutation SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM NUCKS1 64710 broad.mit.edu 37 1 205687522 205687522 + Silent SNP T T C TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr1:205687522T>C ENST00000367142.4 - 7.0 920 c.618A>G c.(616-618)aaA>aaG p.K206K NM_022731.4 NP_073568.2 Q9H1E3 NUCKS_HUMAN nuclear casein kinase and cyclin-dependent kinase substrate 1 206.0 Lys-rich. cytoplasm (GO:0005737)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) endometrium(4)|large_intestine(1)|lung(9) 14.0 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) CATCTTCTTCTTTGGGAGAAG 0.493 0 167.0 189.0 181.0 1 205687522.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS30987.1 1q32.1 2008-02-05 ENSG00000069275 ENSG00000069275 64710.0 64710.0 29923.0 protein-coding gene gene with protein product 611912.0 11298763 Standard NM_022731 NM_022731 Approved NUCKS uc001hdb.3 Q9H1E3 OTTHUMG00000035996 ENST00000367142.4:c.618A>G 1.__UNKNOWN__:g.205687522T>C Q54AC0|Q5PXE7|Q9H1D6|Q9H723 __UNKNOWN__ CCDS30987.1 NUCKS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087729.1 - ENST00000367142.4 Silent SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM KIAA0319 9856 broad.mit.edu 37 6 24596193 24596193 + Missense_Mutation SNP G G A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr6:24596193G>A ENST00000378214.3 - 3.0 1233 c.709C>T c.(709-711)Ccc>Tcc p.P237S KIAA0319_ENST00000430948.2_Missense_Mutation_p.P192S|KIAA0319_ENST00000535378.1_Missense_Mutation_p.P228S|KIAA0319_ENST00000543707.1_Missense_Mutation_p.P237S|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P237S NM_001168375.1|NM_014809.3 NP_001161847.1|NP_055624.2 Q5VV43 K0319_HUMAN KIAA0319 237.0 negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764) early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53.0 GTCGGCAAGGGAAGCAACACA 0.542 0 79.0 75.0 76.0 6 24596193.0 2203.0 4300.0 6503.0 SO:0001583 missense AB002317 CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1 6p22.3 2013-12-13 ENSG00000137261 ENSG00000137261 9856.0 9856.0 21580.0 protein-coding gene gene with protein product """neuronal migration""" 609269.0 9205841, 15514892 Standard NM_014809 NM_014809 Approved NMIG uc003neh.1 Q5VV43 OTTHUMG00000014358 ENST00000378214.3:c.709C>T 6.__UNKNOWN__:g.24596193G>A ENSP00000367459:p.Pro237Ser A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7 __UNKNOWN__ CCDS34348.1 . . . . . . . . . . G 9.583 1.124025 0.20959 . . ENSG00000137261 ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707 T;T;T;T;T 0.08720 3.06;3.16;3.17;3.08;3.08 3.31 0.961 0.19638 . 1.195290 0.06264 N 0.694525 T 0.00845 0.0028 N 0.14661 0.345 0.09310 N 1 B;B;B 0.16603 0.018;0.017;0.01 B;B;B 0.14578 0.011;0.011;0.005 T 0.41124 -0.9526 10 0.02654 T 1 -3.2495 0.5261 0.00620 0.3815:0.1767:0.2628:0.179 . 237;228;237 F5H123;Q5VV43-2;Q5VV43 .;.;K0319_HUMAN S 237;228;192;237;237 ENSP00000439700:P237S;ENSP00000442403:P228S;ENSP00000401086:P192S;ENSP00000367459:P237S;ENSP00000437656:P237S ENSP00000367459:P237S P - 1 0 KIAA0319 24704172 0.000000 0.05858 0.333000 0.25482 0.773000 0.43773 -0.387000 0.07361 0.405000 0.25532 0.609000 0.83330 CCC KIAA0319-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040009.1 - ENST00000378214.3 Missense_Mutation SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM ZMYND10 51364 broad.mit.edu 37 3 50379081 50379081 + Missense_Mutation SNP G G A rs150467144 byFrequency TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr3:50379081G>A ENST00000231749.3 - 11.0 2443 c.1171C>T c.(1171-1173)Cgg>Tgg p.R391W ZMYND10_ENST00000490675.1_5'UTR|ZMYND10_ENST00000360165.3_Missense_Mutation_p.R386W|ZMYND10-AS1_ENST00000440013.1_RNA NM_015896.2 NP_056980.2 O75800 ZMY10_HUMAN zinc finger, MYND-type containing 10 391.0 Interaction with LRRC6. inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158) centriolar satellite (GO:0034451)|cytoplasm (GO:0005737) metal ion binding (GO:0046872) endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2) 14.0 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CAGCGGGGCCGCTCTGGAGCC 0.602 TSP Lung(30;0.18) 0 G TRP/ARG 0,4406 0,0,2203 56.0 59.0 58.0 1171 -1.0 0.9 3 dbSNP_134 58.0 6,8594 5.0+/-18.6 0,6,4294 yes missense ZMYND10 NM_015896.2 101 0,6,6497 AA,AG,GG 0.0698,0.0,0.0461 probably-damaging 391/441 50379081.0 6,13000 2203.0 4300.0 6503.0 SO:0001583 missense U70824 CCDS2825.1 3p21.3 2014-02-03 ENSG00000004838 ENSG00000004838 51364.0 51364.0 """Zinc fingers, MYND-type""" 19412.0 protein-coding gene gene with protein product 607070.0 12629521, 23891469 Standard NM_015896 NM_015896 Approved BLU, CILD22 uc003dag.1 O75800 OTTHUMG00000156874 ENST00000231749.3:c.1171C>T 3.__UNKNOWN__:g.50379081G>A ENSP00000231749:p.Arg391Trp A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6 __UNKNOWN__ CCDS2825.1 . . . . . . . . . . G 19.45 3.829812 0.71258 0.0 6.98E-4 ENSG00000004838 ENST00000231749;ENST00000360165 . . . 5.57 -1.04 0.10068 . 0.097978 0.64402 D 0.000002 T 0.46639 0.1403 N 0.14661 0.345 0.35609 D 0.808469 D;D 0.71674 0.998;0.997 P;P 0.58970 0.849;0.692 T 0.57837 -0.7742 9 0.72032 D 0.01 -8.3753 11.8423 0.52361 0.0:0.0812:0.1619:0.7569 . 386;391 O75800-2;O75800 .;ZMY10_HUMAN W 391;386 . ENSP00000231749:R391W R - 1 2 ZMYND10 50354085 1.000000 0.71417 0.911000 0.35937 0.718000 0.41266 3.108000 0.50337 -0.056000 0.13221 -0.181000 0.13052 CGG ZMYND10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000346376.1 - ENST00000231749.3 Missense_Mutation SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM BDP1 55814 broad.mit.edu 37 5 70757730 70757730 + Silent SNP T T C TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr5:70757730T>C ENST00000358731.4 + 3.0 839 c.576T>C c.(574-576)taT>taC p.Y192Y BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 192.0 Interaction with ZBTB43. gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677) NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72.0 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TCATATATTATCTACCAGATA 0.308 0 80.0 84.0 83.0 5 70757730.0 1855.0 4097.0 5952.0 SO:0001819 synonymous_variant AF298151 CCDS43328.1 5q12-q13 2008-02-05 2001-11-29 2001-11-30 ENSG00000145734 ENSG00000145734 55814.0 55814.0 13652.0 protein-coding gene gene with protein product 607012.0 """TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1""" TFNR, TAF3B1 11214970, 11040218 Standard NM_018429 NM_018429 Approved TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241 uc003kbp.1 A6H8Y1 OTTHUMG00000162506 ENST00000358731.4:c.576T>C 5.__UNKNOWN__:g.70757730T>C Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9 __UNKNOWN__ CCDS43328.1 BDP1-016 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000374681.2 + ENST00000358731.4 Silent SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM MLXIP 22877 broad.mit.edu 37 12 122611891 122611891 + Missense_Mutation SNP C C T TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr12:122611891C>T ENST00000319080.7 + 2.0 634 c.502C>T c.(502-504)Cgg>Tgg p.R168W MLX interacting protein NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20.0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) TGCCATCTGGCGGGCCTGGTA 0.587 Esophageal Squamous(105;787 1493 16200 18566 52466) 0 55.0 54.0 54.0 12 122611891.0 1947.0 4159.0 6106.0 SO:0001583 missense AB020674 CCDS73540.1 12q21.31 2013-05-21 ENSG00000175727 22877.0 22877.0 """Basic helix-loop-helix proteins""" 17055.0 protein-coding gene gene with protein product 608090.0 10048485, 11073985 Standard NM_014938 XM_006719290 Approved MONDOA, KIAA0867, MIR, bHLHe36 uc001ubq.3 Q9HAP2 ENST00000319080.7:c.502C>T 12.__UNKNOWN__:g.122611891C>T ENSP00000312834:p.Arg168Trp __UNKNOWN__ . . . . . . . . . . C 21.1 4.104927 0.77096 . . ENSG00000175727 ENST00000319080 T 0.35973 1.28 5.44 4.52 0.55395 . 0.000000 0.85682 D 0.000000 T 0.59985 0.2234 . . . 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.64685 -0.6349 9 0.87932 D 0 -33.7772 12.485 0.55868 0.4807:0.5193:0.0:0.0 . 168 Q9HAP2 MLXIP_HUMAN W 168 ENSP00000312834:R168W ENSP00000312834:R168W R + 1 2 MLXIP 121177845 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 2.282000 0.43461 1.221000 0.43506 0.655000 0.94253 CGG MLXIP-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000401718.2 + ENST00000319080.7 Missense_Mutation SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM DCC 1630 broad.mit.edu 37 18 50734115 50734115 + Nonsense_Mutation SNP C C T TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr18:50734115C>T ENST00000581580.1 + 8.0 1019 c.754C>T c.(754-756)Cga>Tga p.R252* DCC_ENST00000412726.1_Nonsense_Mutation_p.R445*|DCC_ENST00000442544.2_Nonsense_Mutation_p.R597* P43146 DCC_HUMAN DCC netrin 1 receptor 597.0 Ig-like C2-type 3. anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965) axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888) 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) 148.0 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) ATATAGTCTTCGATTCTTAGC 0.373 0 146.0 152.0 150.0 18 50734115.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained X76132 CCDS11952.1 18q21.1 2014-06-20 2014-06-20 ENSG00000187323 ENSG00000187323 1630.0 1630.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 2701.0 protein-coding gene gene with protein product """immunoglobulin superfamily, DCC subclass, member 1""" 120470.0 """deleted in colorectal carcinoma""" 2294591, 24400119 Standard NM_005215 NM_005215 Approved IGDCC1, NTN1R1 uc002lfe.2 P43146 OTTHUMG00000132698 ENST00000581580.1:c.754C>T 18.__UNKNOWN__:g.50734115C>T ENSP00000464582:p.Arg252* __UNKNOWN__ . . . . . . . . . . C 39 7.810868 0.98501 . . ENSG00000187323 ENST00000442544;ENST00000304775;ENST00000412726 . . . 5.83 5.83 0.93111 . 0.000000 0.64402 D 0.000006 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 13.8105 0.63260 0.1533:0.8467:0.0:0.0 . . . . X 597;530;445 . ENSP00000304146:R530X R + 1 2 DCC 48988113 1.000000 0.71417 1.000000 0.80357 0.976000 0.68499 2.599000 0.46231 2.775000 0.95449 0.650000 0.86243 CGA DCC-011 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000447776.2 + ENST00000581580.1 Nonsense_Mutation SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM MTHFD1L 25902 broad.mit.edu 37 6 151336057 151336057 + Silent SNP G G A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr6:151336057G>A ENST00000367321.3 + 23.0 2623 c.2349G>A c.(2347-2349)aaG>aaA p.K783K NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 783.0 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653) membrane (GO:0016020)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29.0 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) ACCTCCAGAAGCAAATTCAGA 0.478 OREG0017732 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 140.0 118.0 125.0 6 151336057.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC017477 CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1 6q25.1 2010-07-19 2004-12-13 2004-12-14 ENSG00000120254 ENSG00000120254 25902.0 25902.0 6.3.4.3 21055.0 protein-coding gene gene with protein product """10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial""" 611427.0 """formyltetrahydrofolate synthetase domain containing 1""" FTHFSDC1 18804703 Standard NM_015440 NM_015440 Approved DKFZP586G1517, FLJ21145 uc021zgs.1 Q6UB35 OTTHUMG00000015828 ENST00000367321.3:c.2349G>A 6.__UNKNOWN__:g.151336057G>A 1739.0 Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8 __UNKNOWN__ CCDS5228.1 MTHFD1L-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042699.1 + ENST00000367321.3 Silent SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM PAK3 5063 broad.mit.edu 37 X 110439691 110439691 + Silent SNP C C G TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chrX:110439691C>G ENST00000372010.1 + 17.0 1717 c.1275C>G c.(1273-1275)gcC>gcG p.A425A PAK3_ENST00000417227.1_Silent_p.A431A|PAK3_ENST00000425146.1_Silent_p.A410A|PAK3_ENST00000519681.1_Silent_p.A431A|PAK3_ENST00000372007.5_Silent_p.A410A|PAK3_ENST00000262836.4_Silent_p.A425A|PAK3_ENST00000518291.1_Silent_p.A446A|PAK3_ENST00000360648.4_Silent_p.A446A|PAK3_ENST00000446737.1_Silent_p.A410A O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 425.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808) cytoplasm (GO:0005737) ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674) breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41.0 GGTTCTGTGCCCAGATCACTC 0.433 TSP Lung(19;0.15) 0 127.0 124.0 125.0 X 110439691.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF068864 CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1 Xq22.3 2008-06-17 2008-06-17 ENSG00000077264 ENSG00000077264 5063.0 5063.0 8592.0 protein-coding gene gene with protein product 300142.0 """mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3""" MRX30, MRX47 8826460, 9731525 Standard NM_002578 NM_002578 Approved hPAK3, bPAK uc010npv.1 O75914 OTTHUMG00000022202 ENST00000372010.1:c.1275C>G X.__UNKNOWN__:g.110439691C>G A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8 __UNKNOWN__ CCDS48153.1 PAK3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000057918.1 + ENST00000372010.1 Silent SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM RSF1 51773 broad.mit.edu 37 11 77386295 77386295 + Silent SNP T T C TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr11:77386295T>C ENST00000308488.6 - 14.0 3650 c.3348A>G c.(3346-3348)caA>caG p.Q1116Q RSF1_ENST00000360355.2_Silent_p.Q1085Q|RSF1_ENST00000480887.1_Silent_p.Q864Q Q96T23 RSF1_HUMAN remodeling and spacing factor 1 1116.0 CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213) histone binding (GO:0042393)|zinc ion binding (GO:0008270) 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) 43.0 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) CAAACTCATCTTGAGATCTGT 0.398 0 75.0 71.0 73.0 11 77386295.0 2200.0 4292.0 6492.0 SO:0001819 synonymous_variant AF380176, AF227948 CCDS8253.1 11q14.1 2013-01-28 2006-05-25 2006-05-25 ENSG00000048649 ENSG00000048649 51773.0 51773.0 """Zinc fingers, PHD-type""" 18118.0 protein-coding gene gene with protein product 608522.0 """hepatitis B virus x associated protein""" HBXAP 11788598, 12972596 Standard NM_016578 NM_016578 Approved XAP8, RSF-1, p325 uc001oyn.3 Q96T23 OTTHUMG00000150433 ENST00000308488.6:c.3348A>G 11.__UNKNOWN__:g.77386295T>C Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0 __UNKNOWN__ CCDS8253.1 RSF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000318075.2 - ENST00000308488.6 Silent SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM ECHDC2 55268 broad.mit.edu 37 1 53377454 53377454 + Missense_Mutation SNP C C T TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr1:53377454C>T ENST00000371522.4 - 2.0 223 c.130G>A c.(130-132)Gag>Aag p.E44K ECHDC2_ENST00000358358.5_Missense_Mutation_p.E44K|ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000541281.1_5'UTR|ECHDC2_ENST00000536120.1_5'UTR NM_001198961.1 NP_001185890.1 Q86YB7 ECHD2_HUMAN enoyl CoA hydratase domain containing 2 44.0 fatty acid metabolic process (GO:0006631) mitochondrion (GO:0005739) lyase activity (GO:0016829) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 12.0 ATCAGAATCTCAGTGATCCCT 0.617 0 56.0 52.0 53.0 1 53377454.0 2203.0 4300.0 6503.0 SO:0001583 missense AF258590 CCDS571.1, CCDS55600.1, CCDS72794.1 1p32.3 2010-04-30 2010-04-30 ENSG00000121310 ENSG00000121310 55268.0 55268.0 23408.0 protein-coding gene gene with protein product """enoyl Coenzyme A hydratase domain containing 2""" Standard NM_018281 NM_018281 Approved FLJ10948 uc001cup.4 Q86YB7 OTTHUMG00000008927 ENST00000371522.4:c.130G>A 1.__UNKNOWN__:g.53377454C>T ENSP00000360577:p.Glu44Lys D3DQ36|Q9NV38 __UNKNOWN__ CCDS55600.1 . . . . . . . . . . C 26.8 4.773232 0.90108 . . ENSG00000121310 ENST00000371522;ENST00000358358;ENST00000467988 T;T;T 0.76448 -1.02;-1.02;-1.02 4.47 4.47 0.54385 Crotonase, core (1); 0.051658 0.85682 D 0.000000 T 0.73087 0.3542 N 0.17474 0.49 0.80722 D 1 P;D 0.61697 0.933;0.99 P;P 0.53689 0.639;0.732 T 0.76096 -0.3084 10 0.49607 T 0.09 . 14.5323 0.67934 0.0:1.0:0.0:0.0 . 44;44 Q86YB7;Q86YB7-2 ECHD2_HUMAN;. K 44 ENSP00000360577:E44K;ENSP00000351125:E44K;ENSP00000441962:E44K ENSP00000351125:E44K E - 1 0 ECHDC2 53150042 1.000000 0.71417 1.000000 0.80357 0.895000 0.52256 4.919000 0.63383 2.470000 0.83445 0.561000 0.74099 GAG ECHDC2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000024712.3 - ENST00000371522.4 Missense_Mutation SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM SEMA3E 9723 broad.mit.edu 37 7 83029537 83029537 + Silent SNP G G A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr7:83029537G>A ENST00000307792.3 - 11.0 1640 c.1173C>T c.(1171-1173)taC>taT p.Y391Y SEMA3E_ENST00000427262.1_Silent_p.Y331Y NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 391.0 Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}. axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808) extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020) receptor activity (GO:0004872) breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51.0 Medulloblastoma(109;0.109) TGGTGGTTCCGTATCTCCCTC 0.388 0 A , 0,4406 0,0,2203 164.0 152.0 156.0 993,1173 -11.0 0.0 7 156.0 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous,coding-synonymous SEMA3E NM_001178129.1,NM_012431.2 , 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 , 331/716,391/776 83029537.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB002329 CCDS34674.1, CCDS55121.1 7q21.11 2013-01-11 ENSG00000170381 ENSG00000170381 9723.0 9723.0 """Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 10727.0 protein-coding gene gene with protein product """M-sema H""" 608166.0 SEMAH 9205841, 9515811 Standard NM_012431 NM_012431 Approved M-SemaK, KIAA0331, coll-5 uc003uhy.2 O15041 OTTHUMG00000154693 ENST00000307792.3:c.1173C>T 7.__UNKNOWN__:g.83029537G>A B4E1P1|Q75M94|Q75M97 __UNKNOWN__ CCDS34674.1 SEMA3E-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000336606.1 - ENST00000307792.3 Silent SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM C3orf20 84077 broad.mit.edu 37 3 14745942 14745942 + Missense_Mutation SNP G G A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr3:14745942G>A ENST00000253697.3 + 7.0 1429 c.977G>A c.(976-978)cGc>cAc p.R326H C3orf20_ENST00000435614.1_Missense_Mutation_p.R204H|C3orf20_ENST00000412910.1_Missense_Mutation_p.R204H|C3orf20_ENST00000495387.1_3'UTR NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 326.0 cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) p.R326H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40.0 ATGTTGGCCCGCAAAGGAGAC 0.517 1 Substitution - Missense(1) kidney(1) 134.0 144.0 141.0 3 14745942.0 2203.0 4300.0 6503.0 SO:0001583 missense AL136781 CCDS33706.1, CCDS54555.1 3p25.1 2011-01-25 ENSG00000131379 ENSG00000131379 84077.0 84077.0 25320.0 protein-coding gene gene with protein product 11230166 Standard NM_032137 NM_032137 Approved DKFZP434N1817 uc003byy.3 Q8ND61 OTTHUMG00000155545 ENST00000253697.3:c.977G>A 3.__UNKNOWN__:g.14745942G>A ENSP00000253697:p.Arg326His Q7L0U6|Q8NCP2|Q9H0I7 __UNKNOWN__ CCDS33706.1 . . . . . . . . . . G 1.916 -0.449558 0.04572 . . ENSG00000131379 ENST00000253697;ENST00000435614;ENST00000412910 T;T;T 0.08370 3.38;3.1;3.1 4.25 -8.49 0.00931 . 2.180750 0.01920 N 0.040451 T 0.02688 0.0081 N 0.03608 -0.345 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.37033 -0.9723 10 0.14252 T 0.57 -9.0E-4 3.2852 0.06929 0.5612:0.118:0.0931:0.2277 . 326 Q8ND61 CC020_HUMAN H 326;204;204 ENSP00000253697:R326H;ENSP00000402933:R204H;ENSP00000396081:R204H ENSP00000253697:R326H R + 2 0 C3orf20 14720946 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -3.564000 0.00429 -2.339000 0.00626 -2.887000 0.00096 CGC C3orf20-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340586.1 + ENST00000253697.3 Missense_Mutation SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM RGAG1 57529 broad.mit.edu 37 X 109695456 109695456 + Silent SNP C C T TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chrX:109695456C>T ENST00000465301.2 + 3.0 1857 c.1611C>T c.(1609-1611)tcC>tcT p.S537S RGAG1_ENST00000540313.1_Silent_p.S537S NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 537.0 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) 73.0 GATCAATGTCCATGCTGCAAA 0.502 0 178.0 162.0 167.0 X 109695456.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AY121804 CCDS14552.1 Xq23 2008-02-05 ENSG00000243978 ENSG00000243978 57529.0 57529.0 29245.0 protein-coding gene gene with protein product 10718198, 15716091, 16093683 Standard NM_020769 NM_020769 Approved KIAA1318, Mart9, Mar9 uc004eor.2 Q8NET4 OTTHUMG00000022196 ENST00000465301.2:c.1611C>T X.__UNKNOWN__:g.109695456C>T Q9P2M8 __UNKNOWN__ CCDS14552.1 RGAG1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057906.2 + ENST00000465301.2 Silent SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM NUP205 23165 broad.mit.edu 37 7 135323404 135323404 + Missense_Mutation SNP A A G TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr7:135323404A>G ENST00000285968.6 + 38.0 5391 c.5365A>G c.(5365-5367)Aca>Gca p.T1789A NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1789.0 carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643) structural constituent of nuclear pore (GO:0017056) 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) 93.0 CCTTTCAGAAACAGTTAATAG 0.438 0 194.0 173.0 180.0 7 135323404.0 2203.0 4300.0 6503.0 SO:0001583 missense D86978 CCDS34759.1 7q31.32 2007-03-26 2004-01-06 2004-01-07 ENSG00000155561 ENSG00000155561 23165.0 23165.0 18658.0 protein-coding gene gene with protein product 614352.0 """chromosome 7 open reading frame 14""" C7orf14 9039502, 9348540 Standard NM_015135 Approved KIAA0225 uc003vsw.3 Q92621 OTTHUMG00000155497 ENST00000285968.6:c.5365A>G 7.__UNKNOWN__:g.135323404A>G ENSP00000285968:p.Thr1789Ala A6H8X3|Q86YC1 __UNKNOWN__ CCDS34759.1 . . . . . . . . . . a 11.32 1.602956 0.28534 . . ENSG00000155561 ENST00000285968 T 0.28069 1.63 5.26 5.26 0.73747 . 0.215876 0.48767 D 0.000169 T 0.16685 0.0401 N 0.14661 0.345 0.80722 D 1 B 0.02656 0.0 B 0.01281 0.0 T 0.11036 -1.0604 10 0.14656 T 0.56 -8.3772 10.2345 0.43275 0.8141:0.0:0.0:0.1859 . 1789 Q92621 NU205_HUMAN A 1789 ENSP00000285968:T1789A ENSP00000285968:T1789A T + 1 0 NUP205 134973944 1.000000 0.71417 0.881000 0.34555 0.796000 0.44982 2.463000 0.45058 1.989000 0.58080 0.377000 0.23210 ACA NUP205-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340358.1 + ENST00000285968.6 Missense_Mutation SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM IQSEC2 23096 broad.mit.edu 37 X 53268384 53268384 + Missense_Mutation SNP C C A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chrX:53268384C>A ENST00000396435.3 - 11.0 3308 c.3108G>T c.(3106-3108)caG>caT p.Q1036H IQSEC2_ENST00000375365.2_Missense_Mutation_p.Q831H|IQSEC2_ENST00000375368.5_Missense_Mutation_p.Q1026H NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 1026.0 PH. actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012) cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634) ARF guanyl-nucleotide exchange factor activity (GO:0005086) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29.0 CACATGAATTCTGGAAGAGCT 0.502 OREG0019800 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 94.0 88.0 90.0 X 53268384.0 2203.0 4300.0 6503.0 SO:0001583 missense AB011094 CCDS35298.1, CCDS48130.1 Xp11.23 2014-01-31 ENSG00000124313 ENSG00000124313 23096.0 23096.0 29059.0 protein-coding gene gene with protein product 300522.0 """mental retardation, X-linked 1 (non-dysmorphic)""" MRX1 9628581, 20473311 Standard XM_291345 NM_001243197 Approved KIAA0522 uc004dsd.3 Q5JU85 OTTHUMG00000021608 ENST00000396435.3:c.3108G>T X.__UNKNOWN__:g.53268384C>A ENSP00000379712:p.Gln1036His 991.0 B3KT97|C7SDG1|O60275|Q5JUX1 __UNKNOWN__ CCDS48130.1 . . . . . . . . . . C 23.1 4.376709 0.82682 . . ENSG00000124313 ENST00000396435;ENST00000375368;ENST00000375365 T;T;T 0.44083 0.93;0.93;0.93 5.61 5.61 0.85477 . 0.253799 0.40728 N 0.001023 T 0.60547 0.2277 L 0.50333 1.59 0.80722 D 1 D;D 0.71674 0.996;0.998 D;D 0.80764 0.969;0.994 T 0.62798 -0.6778 10 0.87932 D 0 . 17.3443 0.87306 0.0:1.0:0.0:0.0 . 1036;831 Q5JU85-2;Q5JU85-3 .;. H 1036;1026;831 ENSP00000379712:Q1036H;ENSP00000364517:Q1026H;ENSP00000364514:Q831H ENSP00000364514:Q831H Q - 3 2 IQSEC2 53285109 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 4.947000 0.63583 2.363000 0.80096 0.511000 0.50034 CAG IQSEC2-012 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000056743.2 - ENST00000396435.3 Missense_Mutation SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM SLC38A4 55089 broad.mit.edu 37 12 47172479 47172479 + Silent SNP C C T TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr12:47172479C>T ENST00000447411.1 - 10.0 1004 c.798G>A c.(796-798)acG>acA p.T266T SLC38A4_ENST00000266579.4_Silent_p.T266T NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 266.0 amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21.0 Lung SC(27;0.192)|Renal(347;0.236) GCATTGGAAGCGTGTTGTTGA 0.428 0 101.0 93.0 96.0 12 47172479.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant AF193836 CCDS8750.1 12q13 2013-05-22 ENSG00000139209 55089.0 55089.0 """Solute carriers""" 14679.0 protein-coding gene gene with protein product 608065.0 11414754 Standard NM_018018 Approved PAAT, NAT3, ATA3 uc001rpj.2 Q969I6 ENST00000447411.1:c.798G>A 12.__UNKNOWN__:g.47172479C>T A8K553 __UNKNOWN__ CCDS8750.1 SLC38A4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404574.1 - ENST00000447411.1 Silent SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM COL4A5 1287 broad.mit.edu 37 X 107930801 107930801 + Missense_Mutation SNP C C A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chrX:107930801C>A ENST00000328300.6 + 49.0 4649 c.4405C>A c.(4405-4407)Ctt>Att p.L1469I COL4A5_ENST00000361603.2_Missense_Mutation_p.L1463I NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 0.0 Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}. axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528) basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594) extracellular matrix structural constituent (GO:0005201) 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) 99.0 ACATGGATTTCTTATTACACG 0.517 Alport syndrome with Diffuse Leiomyomatosis 0 139.0 125.0 130.0 X 107930801.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database M90464 CCDS14543.1, CCDS35366.1 Xq22 2014-09-17 2008-07-28 ENSG00000188153 ENSG00000188153 1287.0 1287.0 """Collagens""" 2207.0 protein-coding gene gene with protein product 303630.0 """Alport syndrome""" ASLN, ATS Standard NM_000495 Approved uc004enz.2 P29400 OTTHUMG00000022182 ENST00000328300.6:c.4405C>A X.__UNKNOWN__:g.107930801C>A ENSP00000331902:p.Leu1469Ile Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7 __UNKNOWN__ CCDS35366.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 27.5|27.5 4.835026|4.835026 0.91117|0.91117 .|. .|. ENSG00000188153|ENSG00000188153 ENST00000515658|ENST00000328300;ENST00000361603;ENST00000508186 D|D;D 0.86562|0.94330 -2.14|-3.4;-3.4 5.58|5.58 4.7|4.7 0.59300|0.59300 .|C-type lectin fold (1); .|0.000000 .|0.64402 .|D .|0.000001 D|D 0.94118|0.94118 0.8114|0.8114 L|L 0.35487|0.35487 1.065|1.065 0.58432|0.58432 D|D 0.999999|0.999999 .|B;B .|0.24317 .|0.101;0.101 .|P;P .|0.50192 .|0.634;0.634 D|D 0.91469|0.91469 0.5195|0.5195 7|10 0.72032|0.40728 D|T 0.01|0.16 .|. 15.5348|15.5348 0.75993|0.75993 0.0:0.8653:0.1347:0.0|0.0:0.8653:0.1347:0.0 .|. .|1466;1463 .|E7EVY4;P29400 .|.;CO4A5_HUMAN L|I 67|1469;1463;1469 ENSP00000423520:F67L|ENSP00000331902:L1469I;ENSP00000354505:L1463I ENSP00000423520:F67L|ENSP00000331902:L1469I F|L +|+ 3|1 2|0 COL4A5|COL4A5 107817457|107817457 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.920000|0.920000 0.55202|0.55202 4.910000|4.910000 0.63321|0.63321 1.095000|1.095000 0.41419|0.41419 0.600000|0.600000 0.82982|0.82982 TTC|CTT COL4A5-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000360023.1 + ENST00000328300.6 Missense_Mutation SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM STXBP3 6814 broad.mit.edu 37 1 109338934 109338934 + Frame_Shift_Del DEL A A - TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr1:109338934delA ENST00000370008.3 + 14.0 1239 c.1189delA c.(1189-1191)aaafs p.K397fs NM_007269.2 NP_009200.2 O00186 STXB3_HUMAN syntaxin binding protein 3 397.0 blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820) syntaxin binding (GO:0019905) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1) 13.0 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) TCTACTCAACAAAAATCATGA 0.308 0 56.0 56.0 56.0 1 109338934.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant D63506 CCDS790.1 1p13.3 2008-02-05 ENSG00000116266 ENSG00000116266 6814.0 6814.0 11446.0 protein-coding gene gene with protein product 608339.0 10194441 Standard NM_007269 NM_007269 Approved UNC-18C uc001dvy.3 O00186 OTTHUMG00000011122 ENST00000370008.3:c.1189delA 1.__UNKNOWN__:g.109338934delA ENSP00000359025:p.Lys397fs A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7 __UNKNOWN__ CCDS790.1 STXBP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000030591.1 + ENST00000370008.3 Frame_Shift_Del DEL PCPG-TCGA-RW-A68F-Normal-SM-5EQGM Unknown 2500 bcgsc.ca 37 13 23270524 23270524 + RNA SNP T T G TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr13:23270524T>G LINC00424 (820819 upstream) : SNORD36 (106759 downstream) GCATGTTCCCTCTCCTCATGA 0.468 0 SO:0001628 intergenic_variant 13.__UNKNOWN__:g.23270524T>G __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-RW-A68F-Normal-SM-5EQGM KIAA1755 85449 broad.mit.edu 37 20 36869018 36869018 + Silent SNP A A G TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr20:36869018A>G ENST00000279024.4 - 3.0 1786 c.1515T>C c.(1513-1515)tcT>tcC p.S505S NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 505.0 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54.0 Myeloproliferative disorder(115;0.00874) TGGGTTTAGGAGAGTAGAGGG 0.507 0 133.0 129.0 130.0 20 36869018.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB051542 CCDS33467.1 20q11.23 2007-12-07 ENSG00000149633 ENSG00000149633 85449.0 85449.0 29372.0 protein-coding gene gene with protein product 11214970 Standard NM_001029864 NM_001029864 Approved RP5-1054A22.3 uc002xhy.1 Q5JYT7 OTTHUMG00000032436 ENST00000279024.4:c.1515T>C 20.__UNKNOWN__:g.36869018A>G Q9C0A8 __UNKNOWN__ CCDS33467.1 KIAA1755-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000079144.3 - ENST00000279024.4 Silent SNP PCPG-TCGA-RW-A68G-Normal-SM-5EQG4 NBEA 26960 broad.mit.edu 37 13 35644944 35644944 + Missense_Mutation SNP T T C TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr13:35644944T>C ENST00000379939.2 + 10.0 1687 c.1526T>C c.(1525-1527)tTg>tCg p.L509S NBEA_ENST00000400445.3_Missense_Mutation_p.L509S|NBEA_ENST00000540320.1_Missense_Mutation_p.L509S|NBEA_ENST00000310336.4_Missense_Mutation_p.L509S Q8NFP9 NBEA_HUMAN neurobeachin 509.0 protein localization (GO:0008104) cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) 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) 108.0 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) TTTGCCCAATTGGATAATAGG 0.363 0 126.0 121.0 122.0 13 35644944.0 2203.0 4300.0 6503.0 SO:0001583 missense AF467288 CCDS45026.1, CCDS55894.1 13q13 2014-09-17 ENSG00000172915 ENSG00000172915 26960.0 26960.0 """A-kinase anchor proteins"", ""WD repeat domain containing""" 7648.0 protein-coding gene gene with protein product 604889.0 10501977 Standard NM_015678 NM_015678 Approved KIAA1544, BCL8B, FLJ10197 uc021ric.1 Q8NFP9 OTTHUMG00000016724 ENST00000379939.2:c.1526T>C 13.__UNKNOWN__:g.35644944T>C ENSP00000369271:p.Leu509Ser B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1 __UNKNOWN__ . . . . . . . . . . T 24.5 4.536301 0.85812 . . ENSG00000172915 ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336 T;T;T;T 0.75821 -0.97;-0.97;-0.97;-0.97 5.23 5.23 0.72850 . 0.089806 0.46758 D 0.000276 D 0.86306 0.5901 M 0.81802 2.56 0.80722 D 1 D 0.71674 0.998 D 0.83275 0.996 D 0.87258 0.2277 10 0.49607 T 0.09 . 15.4227 0.75025 0.0:0.0:0.0:1.0 . 509 Q5T321 . S 509 ENSP00000440951:L509S;ENSP00000383295:L509S;ENSP00000369271:L509S;ENSP00000308534:L509S ENSP00000308534:L509S L + 2 0 NBEA 34542944 1.000000 0.71417 1.000000 0.80357 0.961000 0.63080 7.795000 0.85887 2.118000 0.64928 0.254000 0.18369 TTG NBEA-001 KNOWN basic|appris_candidate protein_coding protein_coding OTTHUMT00000044460.1 + ENST00000379939.2 Missense_Mutation SNP PCPG-TCGA-RW-A68G-Normal-SM-5EQG4 LRRC37BP1 0 broad.mit.edu 37 17 28960263 28960263 + RNA SNP C C T TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr17:28960263C>T ENST00000417404.1 + 0.0 1124 leucine rich repeat containing 37B pseudogene 1 AAGCTCATGTCGCGAACAGGC 0.443 0 BC118647 17q11.2 2012-10-05 2010-08-16 2010-08-16 ENSG00000250462 ENSG00000250462 147172.0 147172.0 25390.0 pseudogene pseudogene """leucine rich repeat containing 37, member B2""" LRRC37B2 Standard NR_015341 NR_015341 Approved DKFZp667M2411 uc010csj.3 OTTHUMG00000132795 ENST00000417404.1: 17.__UNKNOWN__:g.28960263C>T __UNKNOWN__ LRRC37BP1-003 KNOWN basic processed_transcript pseudogene OTTHUMT00000256203.1 + ENST00000417404.1 RNA SNP PCPG-TCGA-RW-A68G-Normal-SM-5EQG4 TSPAN13 27075 broad.mit.edu 37 7 16818665 16818665 + Missense_Mutation SNP C C T TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr7:16818665C>T ENST00000262067.4 + 5.0 897 c.464C>T c.(463-465)gCt>gTt p.A155V TSPAN13_ENST00000466195.1_3'UTR NM_014399.3 NP_055214.1 O95857 TSN13_HUMAN tetraspanin 13 155.0 integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 7.0 Lung NSC(10;0.0494)|all_lung(11;0.109) UCEC - Uterine corpus endometrioid carcinoma (126;0.188) TCGCCATGTGCTCCAATCATA 0.358 0 155.0 147.0 149.0 7 16818665.0 2203.0 4300.0 6503.0 SO:0001583 missense AF100759 CCDS5363.1 7p21.2 2013-02-14 2005-03-21 2005-03-21 ENSG00000106537 ENSG00000106537 27075.0 27075.0 """Tetraspanins""" 21643.0 protein-coding gene gene with protein product 613139.0 """transmembrane 4 superfamily member 13""" TM4SF13 Standard NM_014399 NM_014399 Approved NET-6 uc003stq.3 O95857 OTTHUMG00000022968 ENST00000262067.4:c.464C>T 7.__UNKNOWN__:g.16818665C>T ENSP00000262067:p.Ala155Val __UNKNOWN__ CCDS5363.1 . . . . . . . . . . C 15.59 2.877279 0.51801 . . ENSG00000106537 ENST00000262067 T 0.78595 -1.19 5.75 4.87 0.63330 . 0.100778 0.64402 D 0.000002 T 0.80237 0.4586 L 0.57536 1.79 0.48511 D 0.999664 P 0.42078 0.77 P 0.50270 0.636 T 0.76176 -0.3055 10 0.17369 T 0.5 -16.0514 14.9314 0.70916 0.0:0.9313:0.0:0.0687 . 155 O95857 TSN13_HUMAN V 155 ENSP00000262067:A155V ENSP00000262067:A155V A + 2 0 TSPAN13 16785190 1.000000 0.71417 1.000000 0.80357 0.297000 0.27493 5.409000 0.66374 1.431000 0.47355 0.561000 0.74099 GCT TSPAN13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250178.2 + ENST00000262067.4 Missense_Mutation SNP PCPG-TCGA-RW-A68G-Normal-SM-5EQG4 DHRS4 10901 broad.mit.edu 37 14 24424420 24424420 + Splice_Site SNP C C T TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr14:24424420C>T ENST00000313250.5 + 2.0 508 c.305C>T c.(304-306)aCg>aTg p.T102M DHRS4_ENST00000308178.8_Splice_Site_p.T84M|DHRS4_ENST00000397075.3_Splice_Site_p.T102M|DHRS4_ENST00000421831.1_Splice_Site_p.T84M|DHRS4_ENST00000543741.2_Splice_Site_p.T102M|DHRS4_ENST00000559632.1_Splice_Site_p.T102M|DHRS4_ENST00000558263.1_Splice_Site_p.T102M|DHRS4_ENST00000558581.1_Splice_Site_p.T102M|DHRS4_ENST00000397074.3_Splice_Site_p.T102M|DHRS4_ENST00000382761.3_Splice_Site_p.T84M|DHRS4_ENST00000397073.2_Splice_Site_p.T84M NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 102.0 T -> M (in Ref. 1; AAD02292). {ECO:0000305}. alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202) extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777) 3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102) p.T102M(4) central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14.0 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) CTGGTGGCCACGGTGAGCTGC 0.652 4 Substitution - Missense(4) central_nervous_system(2)|lung(1)|kidney(1) SO:0001630 splice_region_variant AF044127 CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1 14q11.2 2013-06-14 ENSG00000157326 ENSG00000157326 10901.0 10901.0 1.1.1.184 """Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1""" 16985.0 protein-coding gene gene with protein product """short chain dehydrogenase/reductase family 25C, member 2""" 611596.0 10333503, 19027726 Standard NM_021004 Approved SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2 uc001wla.3 Q9BTZ2 OTTHUMG00000028777 ENST00000313250.5:c.306+1C>T 14.__UNKNOWN__:g.24424420C>T B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08 __UNKNOWN__ CCDS9605.1 . . . . . . . . . . . 8.197 0.797295 0.16327 . . ENSG00000157326 ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741 T;T;D;D;D;D;D;D 0.88201 0.93;0.93;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35 3.78 0.837 0.18896 NAD(P)-binding domain (1); 0.264094 0.42294 N 0.000732 D 0.83839 0.5341 M 0.77712 2.385 0.36055 D 0.841007 P;B;B;B;B;B 0.45011 0.848;0.001;0.002;0.065;0.05;0.035 B;B;B;B;B;B 0.34180 0.177;0.002;0.001;0.016;0.064;0.044 T 0.80294 -0.1443 10 0.37606 T 0.19 . 7.6245 0.28204 0.0:0.6987:0.0:0.3013 . 102;102;102;102;102;102 Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2 .;.;.;.;.;DHRS4_HUMAN M 102;84;84;84;84;102;102;102 ENSP00000326219:T102M;ENSP00000404147:T84M;ENSP00000380263:T84M;ENSP00000311993:T84M;ENSP00000372209:T84M;ENSP00000380265:T102M;ENSP00000380264:T102M;ENSP00000440508:T102M ENSP00000311993:T84M T + 2 0 DHRS4 23494260 0.410000 0.25376 0.968000 0.41197 0.539000 0.34962 -0.130000 0.10498 -0.015000 0.14150 0.479000 0.44913 ACG DHRS4-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000071857.3 Missense_Mutation + ENST00000313250.5 Splice_Site SNP PCPG-TCGA-RW-A68G-Normal-SM-5EQG4 RP11-458D21.5 100132406 broad.mit.edu 37 1 145296418 145296418 + Missense_Mutation SNP C C T TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr1:145296418C>T ENST00000468030.1 + 0.0 1500 NBPF10_ENST00000342960.5_Missense_Mutation_p.R114W|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron GGAGAAGTTACGGGAAGGGAG 0.522 0 SO:0001624 3_prime_UTR_variant ENST00000468030.1:c.*447C>T 1.__UNKNOWN__:g.145296418C>T __UNKNOWN__ . . . . . . . . . . . 6.556 0.470945 0.12461 . . ENSG00000163386 ENST00000369339;ENST00000448873;ENST00000342960 T 0.04083 3.71 1.15 0.109 0.14578 . . . . . T 0.04227 0.0117 M 0.77820 2.39 0.09310 N 1 . . . . . . T 0.29822 -0.9999 7 0.87932 D 0 . 5.127 0.14890 0.0:0.6223:0.3777:0.0 . . . . W 114;39;114 ENSP00000345684:R114W ENSP00000345684:R114W R + 1 2 NBPF10 144007775 0.010000 0.17322 0.001000 0.08648 0.044000 0.14063 -1.193000 0.03049 0.058000 0.16222 0.121000 0.15741 CGG RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay protein_coding OTTHUMT00000038553.9 + ENST00000468030.1 3'UTR SNP PCPG-TCGA-RW-A68G-Normal-SM-5EQG4 FURIN 5045 broad.mit.edu 37 15 91419725 91419725 + Missense_Mutation SNP C C T TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr15:91419725C>T ENST00000268171.3 + 4.0 589 c.310C>T c.(310-312)Cgg>Tgg p.R104W NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 104.0 cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140) endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867) breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36.0 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GGCAAAGCGACGGACTAAACG 0.622 0 131.0 114.0 120.0 15 91419725.0 2198.0 4298.0 6496.0 SO:0001583 missense X17094 CCDS10364.1 15q26.1 2007-01-24 2002-12-04 2002-12-06 ENSG00000140564 ENSG00000140564 5045.0 5045.0 8568.0 protein-coding gene gene with protein product 136950.0 """paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)""" PCSK3, FUR, PACE 2251280, 1741956 Standard NM_002569 NM_002569 Approved SPC1 uc002bpu.1 P09958 OTTHUMG00000149831 ENST00000268171.3:c.310C>T 15.__UNKNOWN__:g.91419725C>T ENSP00000268171:p.Arg104Trp Q14336|Q6LBS3|Q9UCZ5 __UNKNOWN__ CCDS10364.1 . . . . . . . . . . C 13.05 2.122834 0.37436 . . ENSG00000140564 ENST00000268171 T 0.74209 -0.82 4.79 -1.42 0.08913 . 0.000000 0.85682 D 0.000000 D 0.85737 0.5766 H 0.94847 3.59 0.51767 D 0.999937 D 0.69078 0.997 P 0.59115 0.852 D 0.86696 0.1926 10 0.87932 D 0 -34.6921 11.9573 0.52988 0.6985:0.2329:0.0:0.0686 . 104 P09958 FURIN_HUMAN W 104 ENSP00000268171:R104W ENSP00000268171:R104W R + 1 2 FURIN 89220729 0.063000 0.20901 0.512000 0.27736 0.254000 0.26022 0.481000 0.22260 -0.460000 0.07003 -0.145000 0.13849 CGG FURIN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313492.1 + ENST00000268171.3 Missense_Mutation SNP PCPG-TCGA-RW-A68G-Normal-SM-5EQG4 RAD51AP2 729475 broad.mit.edu 37 2 17696549 17696549 + Missense_Mutation SNP T T C TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr2:17696549T>C ENST00000399080.2 - 1.0 3157 c.3134A>G c.(3133-3135)cAa>cGa p.Q1045R NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 1045.0 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) 49.0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AAATAAACTTTGGTGACTTTT 0.358 0 126.0 115.0 118.0 2 17696549.0 1825.0 4085.0 5910.0 SO:0001583 missense AK310498 CCDS42656.1 2p24.2 2009-01-13 ENSG00000214842 ENSG00000214842 729475.0 729475.0 34417.0 protein-coding gene gene with protein product 16990250 Standard NM_001099218 NM_001099218 Approved FLJ17540 uc002rcl.1 Q09MP3 OTTHUMG00000151761 ENST00000399080.2:c.3134A>G 2.__UNKNOWN__:g.17696549T>C ENSP00000382030:p.Gln1045Arg __UNKNOWN__ CCDS42656.1 . . . . . . . . . . T 19.81 3.896375 0.72639 . . ENSG00000214842 ENST00000399080 T 0.37915 1.17 5.3 5.3 0.74995 . . . . . T 0.49762 0.1576 L 0.32530 0.975 0.29777 N 0.834311 D 0.76494 0.999 D 0.72075 0.976 T 0.51020 -0.8758 9 0.87932 D 0 -5.417 14.711 0.69232 0.0:0.0:0.0:1.0 . 1045 Q09MP3 R51A2_HUMAN R 1045 ENSP00000382030:Q1045R ENSP00000382030:Q1045R Q - 2 0 RAD51AP2 17560030 1.000000 0.71417 1.000000 0.80357 0.763000 0.43281 3.896000 0.56266 2.133000 0.65898 0.533000 0.62120 CAA RAD51AP2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000323801.3 - ENST00000399080.2 Missense_Mutation SNP PCPG-TCGA-RW-A68G-Normal-SM-5EQG4 HSPA1L 0 broad.mit.edu 37 6 31779583 31779583 + Missense_Mutation SNP G G A TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr6:31779583G>A ENST00000375654.4 - 2.0 356 c.167C>T c.(166-168)gCg>gTg p.A56V HSPA1L_ENST00000417199.3_Missense_Mutation_p.A56V NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 56.0 binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986) blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199) ATP binding (GO:0005524)|unfolded protein binding (GO:0051082) breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34.0 GTTCTTGGCCGCATCCCCAAT 0.532 0 123.0 110.0 114.0 6 31779583.0 2203.0 4300.0 6503.0 SO:0001583 missense D85730 CCDS34413.1 6p21.3 2014-01-21 2002-08-29 ENSG00000204390 ENSG00000204390 3305.0 3305.0 """Heat shock proteins / HSP70""" 5234.0 protein-coding gene gene with protein product 140559.0 """heat shock 70kD protein-like 1""" 9685725, 9349405 Standard NM_005527 Approved HSP70-HOM, hum70t uc003nxh.3 P34931 OTTHUMG00000031208 ENST00000375654.4:c.167C>T 6.__UNKNOWN__:g.31779583G>A ENSP00000364805:p.Ala56Val A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1 __UNKNOWN__ CCDS34413.1 . . . . . . . . . . G 8.636 0.894753 0.17613 . . ENSG00000204390 ENST00000375654;ENST00000417199;ENST00000375653 T;T 0.01084 5.36;5.36 4.52 3.65 0.41850 . . . . . T 0.01156 0.0038 M 0.86864 2.845 0.80722 D 1 B 0.19935 0.04 B 0.15870 0.014 T 0.23691 -1.0181 9 0.87932 D 0 . 10.2878 0.43577 0.0971:0.0:0.9029:0.0 . 56 P34931 HS71L_HUMAN V 56 ENSP00000364805:A56V;ENSP00000387691:A56V ENSP00000364804:A56V A - 2 0 HSPA1L 31887562 1.000000 0.71417 0.307000 0.25127 0.017000 0.09413 7.815000 0.86186 1.106000 0.41623 -0.384000 0.06662 GCG HSPA1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076416.2 - ENST00000375654.4 Missense_Mutation SNP PCPG-TCGA-RW-A68G-Normal-SM-5EQG4 NOMO1 23420 broad.mit.edu 37 16 14972620 14972620 + Missense_Mutation SNP T T C TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr16:14972620T>C ENST00000287667.7 + 23.0 2857 c.2686T>C c.(2686-2688)Tcc>Ccc p.S896P NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 896.0 integral component of membrane (GO:0016021)|membrane (GO:0016020) carbohydrate binding (GO:0030246) endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30.0 AGTCCTCTTATCCCTGAGCGG 0.498 0 190.0 193.0 192.0 16 14972620.0 2197.0 4300.0 6497.0 SO:0001583 missense X57398 CCDS10556.1 16p13.11 2008-02-05 ENSG00000103512 ENSG00000103512 23420.0 23420.0 30060.0 protein-coding gene gene with protein product 609157.0 1310294, 15257293 Standard NM_014287 Approved PM5 uc002dcv.3 Q15155 OTTHUMG00000090541 ENST00000287667.7:c.2686T>C 16.__UNKNOWN__:g.14972620T>C ENSP00000287667:p.Ser896Pro P78421|Q8IW21|Q96DG0 __UNKNOWN__ CCDS10556.1 . . . . . . . . . . . 15.91 2.973037 0.53614 . . ENSG00000103512 ENST00000287667;ENST00000456867;ENST00000536948 T 0.08458 3.09 3.19 3.19 0.36642 Carbohydrate-binding-like fold (1); 0.000000 0.85682 D 0.000000 T 0.28896 0.0717 M 0.85197 2.74 0.80722 D 1 D 0.76494 0.999 D 0.83275 0.996 T 0.04509 -1.0946 10 0.66056 D 0.02 -21.5814 9.7805 0.40645 0.0:0.0:0.0:1.0 . 896 Q15155 NOMO1_HUMAN P 896;896;729 ENSP00000287667:S896P ENSP00000287667:S896P S + 1 0 NOMO1 14880121 1.000000 0.71417 0.996000 0.52242 0.407000 0.30961 7.650000 0.83521 1.457000 0.47850 0.327000 0.21459 TCC NOMO1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207065.1 + ENST00000287667.7 Missense_Mutation SNP PCPG-TCGA-RW-A68G-Normal-SM-5EQG4 RBM23 55147 bcgsc.ca 37 14 23374848 23374848 + Missense_Mutation SNP T T A TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr14:23374848T>A ENST00000359890.3 - 6.0 617 c.422A>T c.(421-423)aAg>aTg p.K141M RBM23_ENST00000555209.1_Intron|RBM23_ENST00000346528.5_Intron|RBM23_ENST00000399922.2_Missense_Mutation_p.K125M|RBM23_ENST00000542016.2_De_novo_Start_InFrame NM_001077351.1 NP_001070819.1 Q86U06 RBM23_HUMAN RNA binding motif protein 23 141.0 mRNA processing (GO:0006397) membrane (GO:0016020)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|RNA binding (GO:0003723) endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1) 10.0 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.0128) ATGAGGACTCTTACTGTGTCC 0.388 0 76.0 68.0 70.0 14 23374848.0 1847.0 4092.0 5939.0 SO:0001583 missense AF275678 CCDS41919.1, CCDS41920.1, CCDS41921.1 14q11.1 2014-07-03 2004-04-23 2004-04-23 ENSG00000100461 55147.0 """RNA binding motif (RRM) containing""" 20155.0 protein-coding gene gene with protein product """coactivator of activating protein-1 and estrogen recep- tors beta""" """RNA-binding region (RNP1, RRM) containing 4""" RNPC4 15694343 Standard NM_018107 Approved FLJ10482, CAPERbeta uc001whg.3 Q86U06 ENST00000359890.3:c.422A>T 14.__UNKNOWN__:g.23374848T>A ENSP00000352956:p.Lys141Met D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7 __UNKNOWN__ CCDS41921.1 . . . . . . . . . . T 21.4 4.148435 0.78001 . . ENSG00000100461 ENST00000359890;ENST00000338980;ENST00000399922 T;T 0.79940 -1.32;3.72 4.88 4.88 0.63580 . 0.313869 0.27424 N 0.019423 D 0.84338 0.5450 L 0.36672 1.1 0.80722 D 1 D;D;D 0.89917 1.0;0.994;0.99 D;P;P 0.76575 0.988;0.904;0.73 D 0.85234 0.1034 10 0.54805 T 0.06 -25.6783 13.8912 0.63740 0.0:0.0:0.0:1.0 . 141;125;141 Q86U06-3;Q86U06-2;Q86U06 .;.;RBM23_HUMAN M 141;118;125 ENSP00000352956:K141M;ENSP00000382806:K125M ENSP00000305783:K141M K - 2 0 RBM23 22444688 1.000000 0.71417 1.000000 0.80357 0.933000 0.57130 2.423000 0.44705 2.179000 0.69175 0.533000 0.62120 AAG RBM23-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000413545.3 - ENST00000359890.3 Missense_Mutation SNP PCPG-TCGA-RW-A68G-Normal-SM-5EQG4 ABI2 10152 ucsc.edu 37 2 204231720 204231720 + Missense_Mutation SNP G G A TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr2:204231720G>A ENST00000422511.2 + 2.0 269 c.238G>A c.(238-240)Gca>Aca p.A80T ABI2_ENST00000424558.1_Missense_Mutation_p.A80T|ABI2_ENST00000261017.5_Missense_Mutation_p.A80T|ABI2_ENST00000430418.1_Missense_Mutation_p.A80T|ABI2_ENST00000261016.6_Silent_p.R9R|ABI2_ENST00000295851.5_Missense_Mutation_p.A80T Q9NYB9 ABI2_HUMAN abl-interactor 2 80.0 t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}. actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209) cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625) breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 15.0 GGATATCCAGGCATCCCAGCT 0.418 0 124.0 106.0 112.0 2 204231720.0 2203.0 4300.0 6503.0 SO:0001583 missense AF260261 CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1 2q33 2010-09-20 2009-07-23 ENSG00000138443 ENSG00000138443 10152.0 10152.0 24011.0 protein-coding gene gene with protein product 606442 7590236, 10964520 Standard NM_005759 XM_005246217 Approved ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2 uc002uzz.3 Q9NYB9 OTTHUMG00000132879 ENST00000422511.2:c.238G>A 2.__UNKNOWN__:g.204231720G>A ENSP00000396249:p.Ala80Thr B4DSN1|Q13147|Q13249|Q13801|Q9BV70 __UNKNOWN__ . . . . . . . . . . G 29.8 5.033050 0.93575 . . ENSG00000138443 ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000417864;ENST00000422511 D;D;D;D;D;D 0.92858 -3.12;-3.12;-3.12;-3.12;-3.12;-3.12 5.42 5.42 0.78866 Target SNARE coiled-coil domain (1); 0.000000 0.85682 D 0.000000 D 0.91653 0.7362 N 0.21545 0.675 0.80722 D 1 D;D;D 0.64830 0.994;0.973;0.979 P;B;P 0.57425 0.668;0.264;0.82 D 0.90703 0.4622 10 0.31617 T 0.26 -14.2589 19.2185 0.93788 0.0:0.0:1.0:0.0 . 80;80;80 Q9NYB9-4;Q9NYB9;Q9NYB9-2 .;ABI2_HUMAN;. T 80 ENSP00000295851:A80T;ENSP00000261017:A80T;ENSP00000408898:A80T;ENSP00000391433:A80T;ENSP00000414703:A80T;ENSP00000396249:A80T ENSP00000261017:A80T A + 1 0 ABI2 203939965 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.807000 0.99171 2.542000 0.85734 0.655000 0.94253 GCA ABI2-007 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000336179.2 + ENST00000422511.2 Missense_Mutation SNP PCPG-TCGA-RW-A68G-Normal-SM-5EQG4 C16orf86 388284 ucsc.edu 37 16 67701288 67701288 + Silent SNP G G A TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr16:67701288G>A ENST00000403458.4 + 2.0 347 c.192G>A c.(190-192)tcG>tcA p.S64S C16orf86_ENST00000602974.1_Intron NM_001012984.2 NP_001013002.2 Q6ZW13 CP086_HUMAN chromosome 16 open reading frame 86 64.0 endometrium(2)|lung(4) 6.0 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GCGCAGCTTCGGAGTCGGAGC 0.682 0 17.0 22.0 20.0 16 67701288.0 2074.0 4194.0 6268.0 SO:0001819 synonymous_variant CCDS32468.2 16q22.1 2008-10-30 ENSG00000159761 ENSG00000159761 388284.0 388284.0 33755.0 protein-coding gene gene with protein product Standard NM_001012984 NM_001012984 Approved FLJ41802 uc002ety.3 Q6ZW13 OTTHUMG00000150527 ENST00000403458.4:c.192G>A 16.__UNKNOWN__:g.67701288G>A B5MCW6 __UNKNOWN__ CCDS32468.2 C16orf86-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318767.2 + ENST00000403458.4 Silent SNP PCPG-TCGA-RW-A68G-Normal-SM-5EQG4 CSMD1 64478 ucsc.edu 37 8 2949087 2949087 + Nonsense_Mutation SNP C C T TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr8:2949087C>T ENST00000520002.1 - 49.0 7794 c.7239G>A c.(7237-7239)tgG>tgA p.W2413* CSMD1_ENST00000400186.3_Nonsense_Mutation_p.W2413*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.W2412*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.W2412*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.W2413*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.W2413* Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2413.0 CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}. integral component of membrane (GO:0016021) breast(20)|large_intestine(5) 25.0 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) GGTCAGTGGACCAGCGGAGAT 0.378 0 111.0 107.0 108.0 8 2949087.0 1844.0 4085.0 5929.0 SO:0001587 stop_gained 8p23.2 2012-04-17 ENSG00000183117 ENSG00000183117 64478.0 64478.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 14026.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 24""" 608397 Standard NM_033225 NM_033225 Approved KIAA1890, PPP1R24 uc022aqr.1 Q96PZ7 OTTHUMG00000163605 ENST00000520002.1:c.7239G>A 8.__UNKNOWN__:g.2949087C>T ENSP00000430733:p.Trp2413* Q0H0J5|Q96QU9|Q96RM4 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 50|50 17.051503|17.051503 0.99878|0.99878 .|. .|. ENSG00000183117|ENSG00000183117 ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608 .|. .|. .|. 5.8|5.8 5.8|5.8 0.92144|0.92144 .|. .|0.000000 .|0.64402 .|D .|0.000001 T|. 0.48333|. 0.1494|. .|. .|. .|. 0.80722|0.80722 D|D 1|1 .|. .|. .|. .|. .|. .|. T|. 0.37502|. -0.9703|. 4|. .|0.02654 .|T .|1 .|. 20.0421|20.0421 0.97595|0.97595 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|. .|. .|. I|X 1830|2413;2413;2274;2412;2412 .|. .|ENSP00000320445:W2274X V|W -|- 1|3 0|0 CSMD1|CSMD1 2936494|2936494 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.731000|0.731000 0.41821|0.41821 7.551000|7.551000 0.82182|0.82182 2.733000|2.733000 0.93635|0.93635 0.555000|0.555000 0.69702|0.69702 GTC|TGG CSMD1-001 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000374500.2 - ENST00000520002.1 Nonsense_Mutation SNP PCPG-TCGA-RW-A68G-Normal-SM-5EQG4 EPB41L3 23136 ucsc.edu 37 18 5433488 5433488 + Missense_Mutation SNP C C A TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr18:5433488C>A ENST00000341928.2 - 8.0 1232 c.892G>T c.(892-894)Gta>Tta p.V298L EPB41L3_ENST00000400111.3_Missense_Mutation_p.V298L|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.V298L|EPB41L3_ENST00000540638.2_Missense_Mutation_p.V298L|EPB41L3_ENST00000544123.1_Missense_Mutation_p.V298L NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 298.0 FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}. apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360) axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886) structural constituent of cytoskeleton (GO:0005200) 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) 105.0 TGTAAATCTACCCCATACATT 0.323 0 171.0 161.0 165.0 18 5433488.0 2203.0 4299.0 6502.0 SO:0001583 missense AB023204 CCDS11838.1, CCDS62381.1, CCDS62382.1 18p11.32 2006-06-28 ENSG00000082397 ENSG00000082397 23136.0 23136.0 3380.0 protein-coding gene gene with protein product 605331 9828140, 9892180 Standard NM_012307 NM_012307 Approved DAL1, KIAA0987, 4.1B uc002kmt.1 Q9Y2J2 OTTHUMG00000131562 ENST00000341928.2:c.892G>T 18.__UNKNOWN__:g.5433488C>A ENSP00000343158:p.Val298Leu B7Z4I5|F5GX05|O95713|Q9BRP5 __UNKNOWN__ CCDS11838.1 . . . . . . . . . . C 34 5.315962 0.95655 . . ENSG00000082397 ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111 T;T;T;T 0.79554 -1.28;-1.28;-1.28;-1.28 5.9 5.9 0.94986 Band 4.1 domain (1);FERM central domain (1);FERM domain (1);Pleckstrin homology-type (1);FERM conserved site (1); 0.054011 0.64402 D 0.000001 D 0.93337 0.7876 H 0.95504 3.68 0.80722 D 1 D;D;D;D;D 0.67145 0.977;0.995;0.995;0.994;0.996 D;P;D;D;D 0.75484 0.94;0.869;0.986;0.975;0.956 D 0.94455 0.7671 10 0.87932 D 0 . 20.2556 0.98417 0.0:1.0:0.0:0.0 . 298;298;189;298;298 F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2 .;.;.;.;E41L3_HUMAN L 298;189;298;189;298;298 ENSP00000343158:V298L;ENSP00000441174:V298L;ENSP00000341138:V298L;ENSP00000382981:V298L ENSP00000343158:V298L V - 1 0 EPB41L3 5423488 1.000000 0.71417 0.994000 0.49952 0.923000 0.55619 7.815000 0.86186 2.791000 0.96007 0.655000 0.94253 GTA EPB41L3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000254424.1 - ENST00000341928.2 Missense_Mutation SNP PCPG-TCGA-RW-A68G-Normal-SM-5EQG4 PDZRN3 23024 broad.mit.edu 37 3 73432662 73432662 + Missense_Mutation SNP C C T rs146957114 TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr3:73432662C>T ENST00000479530.1 - 8.0 2402 c.2206G>A c.(2206-2208)Gaa>Aaa p.E736K PDZRN3_ENST00000535920.1_Missense_Mutation_p.E741K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E676K|PDZRN3_ENST00000263666.4_Missense_Mutation_p.E1019K|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E676K Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 1019.0 neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567) neuromuscular junction (GO:0031594) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) p.E1019K(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69.0 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TGGCTCAGTTCGAGAATGTTC 0.498 1 Substitution - Missense(1) skin(1) C LYS/GLU 0,4406 0,0,2203 242.0 242.0 242.0 3055 4.8 0.7 3 dbSNP_134 242.0 1,8599 1.2+/-3.3 0,1,4299 no missense PDZRN3 NM_015009.1 56 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 possibly-damaging 1019/1067 73432662.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AB029018 CCDS33789.1 3p14.1 2013-01-09 2008-08-14 ENSG00000121440 ENSG00000121440 23024.0 23024.0 """RING-type (C3HC4) zinc fingers""" 17704.0 protein-coding gene gene with protein product """likely ortholog of mouse semaF cytoplasmic domain associated protein 3""" 609729.0 10470851 Standard XM_041363 XM_005264718 Approved KIAA1095, SEMACAP3, LNX3 uc003dpl.1 Q9UPQ7 OTTHUMG00000158865 ENST00000479530.1:c.2206G>A 3.__UNKNOWN__:g.73432662C>T ENSP00000418624:p.Glu736Lys A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2 __UNKNOWN__ . . . . . . . . . . C 13.69 2.312818 0.40895 0.0 1.16E-4 ENSG00000121440 ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530 T;T;T;T;T 0.77358 -1.09;-1.09;-1.09;-1.09;-1.09 5.66 4.79 0.61399 . 0.211072 0.48286 D 0.000192 T 0.82195 0.4984 M 0.66939 2.045 0.58432 D 0.999996 D;D;D;D 0.61080 0.981;0.969;0.989;0.969 P;B;P;B 0.52856 0.651;0.306;0.711;0.306 D 0.84308 0.0509 10 0.72032 D 0.01 . 13.8131 0.63274 0.0:0.9261:0.0:0.0739 . 741;736;736;1019 F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7 .;.;.;PZRN3_HUMAN K 1019;741;676;676;736 ENSP00000263666:E1019K;ENSP00000442026:E741K;ENSP00000418168:E676K;ENSP00000418484:E676K;ENSP00000418624:E736K ENSP00000263666:E1019K E - 1 0 PDZRN3 73515352 1.000000 0.71417 0.694000 0.30210 0.003000 0.03518 5.842000 0.69417 1.385000 0.46445 0.655000 0.94253 GAA PDZRN3-006 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000352465.1 - ENST00000479530.1 Missense_Mutation SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY PPP1R3F 89801 broad.mit.edu 37 X 49143521 49143521 + Missense_Mutation SNP C C T TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chrX:49143521C>T ENST00000055335.6 + 4.0 2385 c.2369C>T c.(2368-2370)gCg>gTg p.A790V PPP1R3F_ENST00000376188.1_Missense_Mutation_p.A444V|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.A444V|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.A461V|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.A444V NM_033215.4 NP_149992.3 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory subunit 3F 790.0 regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979) integral component of membrane (GO:0016021)|membrane (GO:0016020) glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4) 27.0 Ovarian(276;0.236) CTGGTGCTTGCGCTGTGCCTC 0.627 0 60.0 46.0 51.0 X 49143521.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS35254.1, CCDS55415.1 Xp11.23 2012-04-17 2011-10-04 ENSG00000049769 ENSG00000049769 89801.0 89801.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 14944.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory (inhibitor) subunit 3F""" 11948623 Standard NM_033215 NM_033215 Approved Hb2E uc004dnh.2 Q6ZSY5 OTTHUMG00000024139 ENST00000055335.6:c.2369C>T X.__UNKNOWN__:g.49143521C>T ENSP00000055335:p.Ala790Val A2VDJ8|B3KPW2|E9PCM3 __UNKNOWN__ CCDS35254.1 . . . . . . . . . . C 1.840 -0.467574 0.04476 . . ENSG00000049769 ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188 T;T;T;T;T 0.56275 1.02;1.02;0.47;1.02;1.02 5.36 -1.46 0.08800 . 0.527289 0.17202 N 0.183061 T 0.23171 0.0560 N 0.08118 0 0.09310 N 1 B;B;B 0.12630 0.006;0.006;0.003 B;B;B 0.10450 0.005;0.005;0.001 T 0.30268 -0.9984 10 0.02654 T 1 -0.3008 9.4763 0.38873 0.0:0.3635:0.0:0.6365 . 461;475;790 F5H262;A2VDJ8;Q6ZSY5 .;.;PPR3F_HUMAN V 444;461;790;444;444 ENSP00000420687:A444V;ENSP00000415548:A461V;ENSP00000055335:A790V;ENSP00000417535:A444V;ENSP00000365359:A444V ENSP00000055335:A790V A + 2 0 PPP1R3F 49030465 0.002000 0.14202 0.469000 0.27204 0.984000 0.73092 -0.505000 0.06367 -0.569000 0.06030 -0.312000 0.09012 GCG PPP1R3F-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000060819.2 + ENST00000055335.6 Missense_Mutation SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY BMS1P20 0 broad.mit.edu 37 22 22664128 22664128 + RNA SNP G G A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr22:22664128G>A ENST00000426066.1 + 0.0 651 NR_027293.1 BMS1 pseudogene 20 CTTGGAAGTGGCCAAATTTGA 0.433 0 22q11.22 2013-09-20 ENSG00000236850 ENSG00000236850 96610.0 96610.0 49153.0 pseudogene pseudogene Standard XR_430414 Approved OTTHUMG00000151046 ENST00000426066.1: 22.__UNKNOWN__:g.22664128G>A __UNKNOWN__ BMS1P20-001 KNOWN basic|readthrough_transcript processed_transcript processed_transcript OTTHUMT00000473090.1 + ENST00000426066.1 RNA SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY CAPN9 10753 broad.mit.edu 37 1 230930958 230930958 + Silent SNP G G A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr1:230930958G>A ENST00000271971.2 + 18.0 2033 c.1920G>A c.(1918-1920)gcG>gcA p.A640A CAPN9_ENST00000366666.2_Silent_p.A577A|CAPN9_ENST00000480004.1_3'UTR|CAPN9_ENST00000354537.1_Silent_p.A614A|RP11-99J16__A.2_ENST00000412344.1_RNA NM_006615.2 NP_006606.1 O14815 CAN9_HUMAN calpain 9 640.0 Domain IV. digestion (GO:0007586)|proteolysis (GO:0006508) cytoplasm (GO:0005737) calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25.0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) TCAGGTATGCGGATGAGGAGC 0.612 0 60.0 51.0 54.0 1 230930958.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF022799 CCDS1586.1, CCDS31053.1 1q42.11-q42.3 2013-01-10 2004-11-11 ENSG00000135773 ENSG00000135773 10753.0 10753.0 """EF-hand domain containing""" 1486.0 protein-coding gene gene with protein product """novel calpain large subunit-4""" 606401.0 """calpain 9 (nCL-4)""" 9524069, 10835488 Standard NM_006615 XM_005273010 Approved nCL-4, GC36 uc001htz.1 O14815 OTTHUMG00000037779 ENST00000271971.2:c.1920G>A 1.__UNKNOWN__:g.230930958G>A B1APS1|B1AQI0|Q9NS74 __UNKNOWN__ CCDS1586.1 CAPN9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000092179.1 + ENST00000271971.2 Silent SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY SYT9 143425 broad.mit.edu 37 11 7334941 7334941 + Missense_Mutation SNP A A T TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr11:7334941A>T ENST00000318881.6 + 3.0 1050 c.813A>T c.(811-813)aaA>aaT p.K271N SYT9_ENST00000396716.2_Missense_Mutation_p.K239N NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 271.0 C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}. positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796) cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021) metal ion binding (GO:0046872)|transporter activity (GO:0005215) NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38.0 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) GGAAAACAAAACACCAGACTA 0.423 0 169.0 169.0 169.0 11 7334941.0 2201.0 4296.0 6497.0 SO:0001583 missense AK055003 CCDS7778.1 11p15.4 2013-01-21 ENSG00000170743 ENSG00000170743 143425.0 143425.0 """Synaptotagmins""" 19265.0 protein-coding gene gene with protein product 613528.0 11543631 Standard NM_175733 NM_175733 Approved uc001mfe.3 Q86SS6 OTTHUMG00000165499 ENST00000318881.6:c.813A>T 11.__UNKNOWN__:g.7334941A>T ENSP00000324419:p.Lys271Asn __UNKNOWN__ CCDS7778.1 . . . . . . . . . . A 19.53 3.845115 0.71603 . . ENSG00000170743 ENST00000396716;ENST00000318881 T;T 0.72051 -0.62;-0.62 6.17 5.03 0.67393 C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1); 0.000000 0.85682 D 0.000000 D 0.84179 0.5415 M 0.88105 2.93 0.52099 D 0.999941 D 0.76494 0.999 D 0.79784 0.993 D 0.84864 0.0821 9 . . . . 8.0524 0.30585 0.8438:0.0:0.1562:0.0 . 271 Q86SS6 SYT9_HUMAN N 239;271 ENSP00000379944:K239N;ENSP00000324419:K271N . K + 3 2 SYT9 7291517 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 2.067000 0.41461 1.119000 0.41883 0.533000 0.62120 AAA SYT9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000384483.1 + ENST00000318881.6 Missense_Mutation SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY TCERG1 10915 broad.mit.edu 37 5 145843159 145843159 + Missense_Mutation SNP C C T TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr5:145843159C>T ENST00000296702.5 + 5.0 976 c.938C>T c.(937-939)gCc>gTc p.A313V TCERG1_ENST00000394421.2_Missense_Mutation_p.A313V NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 313.0 Thr-rich. negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713) breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46.0 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTTTCAGTTGCCACGCCTACA 0.458 0 227.0 214.0 219.0 5 145843159.0 2203.0 4300.0 6503.0 SO:0001583 missense AF017789 CCDS4282.1, CCDS43379.1 5q31 2010-01-25 2002-01-24 2002-01-25 ENSG00000113649 ENSG00000113649 10915.0 10915.0 15630.0 protein-coding gene gene with protein product """transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S""" 605409.0 """TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD""" TAF2S 9315662, 11003711 Standard NM_001040006 XM_005268365 Approved CA150, Urn1 uc003lob.3 O14776 OTTHUMG00000129683 ENST00000296702.5:c.938C>T 5.__UNKNOWN__:g.145843159C>T ENSP00000296702:p.Ala313Val Q2NKN2|Q59EA1 __UNKNOWN__ CCDS4282.1 . . . . . . . . . . C 14.69 2.612186 0.46631 . . ENSG00000113649 ENST00000296702;ENST00000394421 D;D 0.83837 -1.77;-1.77 5.16 5.16 0.70880 . 0.111756 0.64402 D 0.000007 T 0.76147 0.3947 L 0.29908 0.895 0.34279 D 0.681913 B;B;B 0.09022 0.002;0.001;0.001 B;B;B 0.06405 0.002;0.002;0.001 T 0.75286 -0.3371 10 0.29301 T 0.29 -1.9838 18.6523 0.91435 0.0:1.0:0.0:0.0 . 313;313;313 B7Z921;O14776-2;O14776 .;.;TCRG1_HUMAN V 313 ENSP00000296702:A313V;ENSP00000377943:A313V ENSP00000296702:A313V A + 2 0 TCERG1 145823352 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 5.294000 0.65687 2.392000 0.81423 0.563000 0.77884 GCC TCERG1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000251886.1 + ENST00000296702.5 Missense_Mutation SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY ABCF2 10061 broad.mit.edu 37 7 150913092 150913092 + Silent SNP G G A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr7:150913092G>A ENST00000287844.2 - 12.0 1471 c.1362C>T c.(1360-1362)atC>atT p.I454I ABCF2_ENST00000222388.2_Silent_p.I454I NM_007189.1 NP_009120.1 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F (GCN20), member 2 454.0 ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}. transport (GO:0006810) ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2) 24.0 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGTGTTTTCGGATCATGCCAT 0.493 0 115.0 101.0 106.0 7 150913092.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AJ005016 CCDS5922.1, CCDS5923.1 7q36.1 2012-03-14 ENSG00000033050 ENSG00000033050 10061.0 10061.0 """ATP binding cassette transporters / subfamily F""" 71.0 protein-coding gene gene with protein product 612510.0 8894702 Standard NM_005692 NM_007189 Approved EST133090, ABC28, M-ABC1, HUSSY-18 uc003wjo.1 Q9UG63 OTTHUMG00000154570 ENST00000287844.2:c.1362C>T 7.__UNKNOWN__:g.150913092G>A O60864|Q75MJ0|Q75MJ1|Q96TE8 __UNKNOWN__ CCDS5923.1 ABCF2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000336086.1 - ENST00000287844.2 Silent SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY CEP152 22995 broad.mit.edu 37 15 49034156 49034156 + Missense_Mutation SNP T T A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr15:49034156T>A ENST00000380950.2 - 25.0 4164 c.3977A>T c.(3976-3978)gAt>gTt p.D1326V CEP152_ENST00000325747.5_Missense_Mutation_p.D1233V|CEP152_ENST00000399334.3_Missense_Mutation_p.D1270V NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 1326.0 cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278) centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634) protein kinase binding (GO:0019901) breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63.0 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TTCTTTTCCATCATCCTGCAA 0.393 0 167.0 155.0 158.0 15 49034156.0 1891.0 4112.0 6003.0 SO:0001583 missense AB020719 CCDS42033.1, CCDS58361.1 15q21.1 2014-02-20 22995.0 22995.0 29298.0 protein-coding gene gene with protein product """asterless""" 613529.0 """microcephaly, primary autosomal recessive 4""" MCPH4 14654843, 21131973 Standard NM_014985 NM_014985 Approved KIAA0912, SCKL5 uc001zwz.3 O94986 ENST00000380950.2:c.3977A>T 15.__UNKNOWN__:g.49034156T>A ENSP00000370337:p.Asp1326Val E7ER66|Q17RV1|Q6NTA0 __UNKNOWN__ CCDS58361.1 . . . . . . . . . . T 14.75 2.629880 0.46944 . . ENSG00000103995 ENST00000380950;ENST00000325747;ENST00000399334 T;T;T 0.55760 0.59;0.5;0.58 5.93 4.81 0.61882 . 0.751400 0.13167 N 0.408619 T 0.51500 0.1678 L 0.46157 1.445 0.43555 D 0.995863 B;P;P 0.49559 0.302;0.925;0.925 B;B;P 0.44990 0.189;0.387;0.466 T 0.50448 -0.8827 10 0.72032 D 0.01 -3.9114 11.962 0.53013 0.0:0.0675:0.0:0.9325 . 1233;1326;1270 O94986-1;E7ER66;O94986 .;.;CE152_HUMAN V 1326;1233;1270 ENSP00000370337:D1326V;ENSP00000321000:D1233V;ENSP00000382271:D1270V ENSP00000321000:D1233V D - 2 0 CEP152 46821448 0.999000 0.42202 0.972000 0.41901 0.974000 0.67602 2.960000 0.49161 1.067000 0.40740 -0.256000 0.11100 GAT CEP152-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000417365.1 - ENST00000380950.2 Missense_Mutation SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY DVL2 1856 broad.mit.edu 37 17 7132319 7132319 + Missense_Mutation SNP G G A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr17:7132319G>A ENST00000005340.5 - 9.0 1285 c.1003C>T c.(1003-1005)Cgg>Tgg p.R335W DVL2_ENST00000575458.1_Missense_Mutation_p.R329W NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 335.0 PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}. canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) frizzled binding (GO:0005109)|identical protein binding (GO:0042802) breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25.0 CTCAGCACCCGCACAGCGTCA 0.532 0 G TRP/ARG 1,4405 2.1+/-5.4 0,1,2202 120.0 103.0 109.0 1003 5.2 1.0 17 109.0 0,8600 0,0,4300 no missense DVL2 NM_004422.2 101 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 probably-damaging 335/737 7132319.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense BC014844 CCDS11091.1 17p13.1 2013-05-22 2013-05-22 ENSG00000004975 ENSG00000004975 1856.0 1856.0 """Dishevelled homologs""" 3086.0 protein-coding gene gene with protein product 602151.0 """dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)""" 8662242 Standard NM_004422 NM_004422 Approved uc002gez.1 O14641 OTTHUMG00000102155 ENST00000005340.5:c.1003C>T 17.__UNKNOWN__:g.7132319G>A ENSP00000005340:p.Arg335Trp D3DTN3|Q53XM0 __UNKNOWN__ CCDS11091.1 . . . . . . . . . . G 26.6 4.751967 0.89753 2.27E-4 0.0 ENSG00000004975 ENST00000005340 T 0.18502 2.21 5.25 5.25 0.73442 PDZ/DHR/GLGF (4); 0.000000 0.85682 D 0.000000 T 0.47377 0.1442 M 0.86028 2.79 0.80722 D 1 D;D 0.89917 0.992;1.0 P;D 0.81914 0.583;0.995 T 0.53858 -0.8379 10 0.87932 D 0 -11.133 16.3333 0.83050 0.0:0.0:1.0:0.0 . 329;335 B4DLQ0;O14641 .;DVL2_HUMAN W 335 ENSP00000005340:R335W ENSP00000005340:R335W R - 1 2 DVL2 7073043 1.000000 0.71417 0.996000 0.52242 0.921000 0.55340 3.808000 0.55598 2.469000 0.83416 0.555000 0.69702 CGG DVL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000219999.2 - ENST00000005340.5 Missense_Mutation SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY PHACTR1 221692 broad.mit.edu 37 6 13185173 13185173 + Silent SNP C C A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr6:13185173C>A ENST00000379350.1 + 6.0 793 PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000379345.2_Silent_p.P124P Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149) cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202) actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864) breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26.0 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) AGCAGCTGCCCCTTCTCAAGC 0.582 0 73.0 73.0 73.0 6 13185173.0 876.0 1991.0 2867.0 SO:0001627 intron_variant AB051520 CCDS75401.1 6p23 2013-01-24 2004-05-20 2004-05-21 ENSG00000112137 ENSG00000112137 221692.0 221692.0 """Phosphatase and actin regulators""" 20990.0 protein-coding gene gene with protein product 608723.0 """RPEL repeat containing 1""" RPEL1 11214970, 15107502 Standard XM_166420 NM_030948 Approved KIAA1733, dJ257A7.2 uc010jpc.3 Q9C0D0 OTTHUMG00000014270 ENST00000379350.1:c.664+2255C>A 6.__UNKNOWN__:g.13185173C>A A8K1V2|Q3MJ93|Q5JSJ2 __UNKNOWN__ PHACTR1-001 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000039876.1 + ENST00000379350.1 Intron SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY CD3E 916 broad.mit.edu 37 11 118175676 118175676 + Silent SNP G G A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr11:118175676G>A ENST00000361763.4 + 2.0 300 c.9G>A c.(7-9)tcG>tcA p.S3S CD3E_ENST00000528600.1_Silent_p.S3S NM_000733.3 NP_000724.1 P07766 CD3E_HUMAN CD3e molecule, epsilon (CD3-TCR complex) 3.0 apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101) protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1) 8.0 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251) Muromonab(DB00075) AGATGCAGTCGGGCACTCACT 0.488 0 182.0 190.0 187.0 11 118175676.0 2200.0 4296.0 6496.0 SO:0001819 synonymous_variant X03884 CCDS31685.1 11q23 2014-09-17 2006-03-28 ENSG00000198851 ENSG00000198851 916.0 916.0 """CD molecules""" 1674.0 protein-coding gene gene with protein product 186830.0 """CD3e antigen, epsilon polypeptide (TiT3 complex)""" Standard NM_000733 NM_000733 Approved uc001psq.4 P07766 OTTHUMG00000166968 ENST00000361763.4:c.9G>A 11.__UNKNOWN__:g.118175676G>A A8K997 __UNKNOWN__ CCDS31685.1 CD3E-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000392120.1 + ENST00000361763.4 Silent SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY PLCH1 23007 broad.mit.edu 37 3 155241774 155241774 + Missense_Mutation SNP T T C TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr3:155241774T>C ENST00000340059.7 - 10.0 1345 c.1346A>G c.(1345-1347)cAc>cGc p.H449R PLCH1_ENST00000334686.6_Missense_Mutation_p.H431R|PLCH1_ENST00000460012.1_Missense_Mutation_p.H431R|PLCH1_ENST00000414191.1_Missense_Mutation_p.H431R|PLCH1_ENST00000447496.2_Missense_Mutation_p.H449R|PLCH1_ENST00000494598.1_Missense_Mutation_p.H449R NM_001130960.1 NP_001124432.1 Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 449.0 inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871) 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) 107.0 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) ATCCCCAAGGTGATAAGGCAA 0.408 0 226.0 209.0 214.0 3 155241774.0 2203.0 4300.0 6503.0 SO:0001583 missense AB028992 CCDS33881.1, CCDS46939.1, CCDS46940.1 3q25 2013-01-10 2006-03-16 2006-03-16 ENSG00000114805 ENSG00000114805 23007.0 23007.0 3.1.4.11 """EF-hand domain containing""" 29185.0 protein-coding gene gene with protein product 612835.0 """phospholipase C-like 3""" PLCL3 15702972 Standard NM_014996 NM_014996 Approved KIAA1069, MGC117152, DKFZp434C1372, PLCeta1 uc021xge.1 Q4KWH8 OTTHUMG00000158477 ENST00000340059.7:c.1346A>G 3.__UNKNOWN__:g.155241774T>C ENSP00000345988:p.His449Arg Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3 __UNKNOWN__ CCDS46939.1 . . . . . . . . . . T 14.58 2.576726 0.45902 . . ENSG00000114805 ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191 T;T;T;T;T;T 0.41065 1.01;1.01;1.01;1.01;1.01;1.01 5.48 5.48 0.80851 PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1); 0.382611 0.29838 N 0.011080 T 0.38878 0.1057 L 0.51422 1.61 0.37313 D 0.909219 B;B;B 0.32101 0.356;0.243;0.017 B;B;B 0.36922 0.236;0.119;0.004 T 0.46843 -0.9162 10 0.45353 T 0.12 . 8.2519 0.31732 0.0:0.1184:0.0:0.8816 . 431;449;449 Q4KWH8-2;Q4KWH8;Q4KWH8-3 .;PLCH1_HUMAN;. R 449;431;449;449;431;431 ENSP00000419100:H449R;ENSP00000417502:H431R;ENSP00000402759:H449R;ENSP00000345988:H449R;ENSP00000335469:H431R;ENSP00000412977:H431R ENSP00000335469:H431R H - 2 0 PLCH1 156724468 1.000000 0.71417 1.000000 0.80357 0.985000 0.73830 2.038000 0.41184 2.073000 0.62155 0.460000 0.39030 CAC PLCH1-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000351125.1 - ENST00000340059.7 Missense_Mutation SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY FBXO33 254170 broad.mit.edu 37 14 39871700 39871700 + Missense_Mutation SNP A A C TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr14:39871700A>C ENST00000298097.7 - 2.0 952 c.615T>G c.(613-615)ttT>ttG p.F205L FBXO33_ENST00000554190.1_Intron NM_203301.3 NP_976046.1 Q7Z6M2 FBX33_HUMAN F-box protein 33 205.0 protein ubiquitination (GO:0016567) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 9.0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) CAAAAAGACTAAACTTCTGAA 0.299 0 81.0 75.0 77.0 14 39871700.0 2203.0 4298.0 6501.0 SO:0001583 missense BI460761 CCDS9677.1 14q13.3 2004-08-24 2004-06-15 ENSG00000165355 ENSG00000165355 254170.0 254170.0 """F-boxes / ""other""""" 19833.0 protein-coding gene gene with protein product 609103.0 """F-box only protein 33""" Standard NM_203301 Approved Fbx33 uc001wvk.3 Q7Z6M2 OTTHUMG00000140257 ENST00000298097.7:c.615T>G 14.__UNKNOWN__:g.39871700A>C ENSP00000298097:p.Phe205Leu Q6PIR2|Q86TR2|Q86YE0 __UNKNOWN__ CCDS9677.1 . . . . . . . . . . A 0.914 -0.718207 0.03182 . . ENSG00000165355 ENST00000298097 T 0.00520 6.85 6.08 4.94 0.65067 . 0.059006 0.64402 D 0.000002 T 0.00241 0.0007 N 0.04203 -0.255 0.80722 D 1 B 0.06786 0.001 B 0.04013 0.001 T 0.60772 -0.7197 9 . . . -10.3648 5.9534 0.19259 0.6889:0.0:0.0758:0.2353 . 205 Q7Z6M2 FBX33_HUMAN L 205 ENSP00000298097:F205L . F - 3 2 FBXO33 38941451 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 1.753000 0.38359 1.128000 0.42052 0.533000 0.62120 TTT FBXO33-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276769.2 - ENST00000298097.7 Missense_Mutation SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY PCDHB10 0 broad.mit.edu 37 5 140574405 140574405 + Silent SNP C C T TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr5:140574405C>T ENST00000239446.4 + 1.0 2464 c.2280C>T c.(2278-2280)ggC>ggT p.G760G NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN protocadherin beta 10 760.0 calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) 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) 76.0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGACGGGAGGCCCCGGGACCA 0.567 0 70.0 79.0 76.0 5 140574405.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF152489 CCDS4252.1 5q31.3 2010-06-15 ENSG00000120324 ENSG00000120324 56126.0 56126.0 """Cadherins / Protocadherins : Clustered""" 8681.0 other protocadherin 606336.0 10380929 Standard NM_018930 NM_018930 Approved uc003lix.3 Q9UN67 OTTHUMG00000129626 ENST00000239446.4:c.2280C>T 5.__UNKNOWN__:g.140574405C>T Q96T99 __UNKNOWN__ CCDS4252.1 PCDHB10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251821.1 + ENST00000239446.4 Silent SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY ARMCX3 51566 broad.mit.edu 37 X 100880328 100880328 + Missense_Mutation SNP C C G TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chrX:100880328C>G ENST00000341189.4 + 5.0 1225 c.359C>G c.(358-360)cCt>cGt p.P120R ARMCX3_ENST00000537169.1_Missense_Mutation_p.P120R|ARMCX3_ENST00000471229.2_Missense_Mutation_p.P120R NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 120.0 cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) integral component of mitochondrial outer membrane (GO:0031307) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11.0 GTTTTGTCCCCTCAAGAGCTA 0.512 0 69.0 61.0 64.0 X 100880328.0 2199.0 4291.0 6490.0 SO:0001583 missense AY359079 CCDS14489.1 Xq22.1 2014-03-21 ENSG00000102401 ENSG00000102401 51566.0 51566.0 """Armadillo repeat containing""" 24065.0 protein-coding gene gene with protein product 300364.0 11162520, 11042152, 19304657, 16221301, 22569362 Standard NM_016607 NM_016607 Approved ALEX3, GASP6 uc004eia.1 Q9UH62 OTTHUMG00000022035 ENST00000341189.4:c.359C>G X.__UNKNOWN__:g.100880328C>G ENSP00000340672:p.Pro120Arg Q53HC6|Q7LCF5|Q9NPE4 __UNKNOWN__ CCDS14489.1 . . . . . . . . . . C 14.53 2.562443 0.45694 . . ENSG00000102401 ENST00000341189;ENST00000537169 T;T 0.36520 1.25;1.25 4.08 4.08 0.47627 Armadillo-like helical (1);Armadillo-type fold (1); 0.114870 0.64402 D 0.000013 T 0.49253 0.1546 L 0.55990 1.75 0.44295 D 0.997161 D 0.61697 0.99 D 0.64410 0.925 T 0.41538 -0.9503 9 . . . -13.9273 10.7694 0.46314 0.0:1.0:0.0:0.0 . 120 Q9UH62 ARMX3_HUMAN R 120 ENSP00000340672:P120R;ENSP00000439032:P120R . P + 2 0 ARMCX3 100766984 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 3.239000 0.51360 2.305000 0.77605 0.523000 0.50628 CCT ARMCX3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057568.2 + ENST00000341189.4 Missense_Mutation SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY AWAT1 158833 broad.mit.edu 37 X 69458182 69458182 + Missense_Mutation SNP C C A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chrX:69458182C>A ENST00000374521.3 + 5.0 622 c.581C>A c.(580-582)aCc>aAc p.T194N NM_001013579.2 NP_001013597.1 Q58HT5 AWAT1_HUMAN acyl-CoA wax alcohol acyltransferase 1 194.0 lipid metabolic process (GO:0006629) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196) breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1) 15.0 AACACCACCACCCTCATCCTC 0.602 0 110.0 76.0 87.0 X 69458182.0 2203.0 4300.0 6503.0 SO:0001583 missense BC039181 CCDS35321.1 Xq13.1 2010-01-25 2009-02-23 2009-02-23 ENSG00000204195 ENSG00000204195 158833.0 158833.0 23252.0 protein-coding gene gene with protein product 300924.0 """diacylglycerol O-acyltransferase 2-like 3""" DGAT2L3 14970677, 15671038 Standard NM_001013579 NM_001013579 Approved uc004dxy.3 Q58HT5 OTTHUMG00000021773 ENST00000374521.3:c.581C>A X.__UNKNOWN__:g.69458182C>A ENSP00000363645:p.Thr194Asn Q5JT21|Q6IEE4 __UNKNOWN__ CCDS35321.1 . . . . . . . . . . C 10.64 1.407720 0.25378 . . ENSG00000204195 ENST00000374521 T 0.14516 2.5 4.93 3.09 0.35607 . 0.275241 0.30177 N 0.010232 T 0.13415 0.0325 M 0.64260 1.97 0.40254 D 0.978105 B 0.13145 0.007 B 0.20184 0.028 T 0.08953 -1.0697 10 0.19147 T 0.46 -2.0072 7.4484 0.27223 0.1829:0.7266:0.0:0.0905 . 194 Q58HT5 AWAT1_HUMAN N 194 ENSP00000363645:T194N ENSP00000363645:T194N T + 2 0 AWAT1 69374907 0.970000 0.33590 0.948000 0.38648 0.188000 0.23474 2.354000 0.44098 0.429000 0.26202 0.600000 0.82982 ACC AWAT1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057066.3 + ENST00000374521.3 Missense_Mutation SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY AGER 177 broad.mit.edu 37 6 32150435 32150435 + Missense_Mutation SNP T T C TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr6:32150435T>C ENST00000375076.4 - 7.0 833 c.732A>G c.(730-732)ccA>ccG p.P244P AGER_ENST00000375069.3_Silent_p.P143P|AGER_ENST00000438221.2_Silent_p.P260P|AGER_ENST00000375055.2_Silent_p.P244P|AGER_ENST00000375067.3_Silent_p.P230P|AGER_ENST00000375070.3_Silent_p.P275P|AGER_ENST00000375065.5_Missense_Mutation_p.Q117R|RNF5_ENST00000427134.2_Intron NM_001136.4|NM_001206929.1|NM_001206932.1 NP_001127.1|NP_001193858.1|NP_001193861.1 Q15109 RAGE_HUMAN advanced glycosylation end product-specific receptor 244.0 Ig-like C2-type 2. cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888) breast(1)|endometrium(1)|lung(5)|pancreas(2) 9.0 CTCCACCTTCTGGCTCCACCA 0.562 0 90.0 88.0 89.0 6 32150435.0 1511.0 2708.0 4219.0 SO:0001819 synonymous_variant M91211 CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1 6p21.3 2013-01-29 ENSG00000204305 ENSG00000204305 177.0 177.0 """Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 320.0 protein-coding gene gene with protein product 600214.0 7713518 Standard NM_001136 NM_001136 Approved RAGE uc003oap.2 Q15109 OTTHUMG00000031120 ENST00000375076.4:c.732A>G 6.__UNKNOWN__:g.32150435T>C A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3 __UNKNOWN__ CCDS4746.1 . . . . . . . . . . T 14.13 2.444244 0.43429 . . ENSG00000204305 ENST00000375065 T 0.64438 -0.1 5.06 -0.337 0.12654 . . . . . T 0.43500 0.1250 . . . 0.80722 D 1 . . . . . . T 0.50767 -0.8789 6 0.87932 D 0 -10.266 0.6391 0.00807 0.1721:0.1882:0.1658:0.474 . . . . R 117 ENSP00000364206:Q117R ENSP00000364206:Q117R Q - 2 0 AGER 32258413 0.968000 0.33430 0.997000 0.53966 0.860000 0.49131 -0.370000 0.07523 -0.179000 0.10654 0.460000 0.39030 CAG AGER-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076200.1 - ENST00000375076.4 Silent SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY JUN 3725 broad.mit.edu 37 1 59248091 59248091 + Nonsense_Mutation SNP G G A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr1:59248091G>A ENST00000371222.2 - 1.0 1694 c.652C>T c.(652-654)Cag>Tag p.Q218* NM_002228.3 NP_002219.1 P05412 JUN_HUMAN jun proto-oncogene 218.0 aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) breast(2)|kidney(2)|lung(5)|skin(1) 10.0 all_cancers(7;8.55e-07) Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570) CGCGGGTGCTGCACGGGCATC 0.736 A sarcoma Dom yes 1 1p32-p31 3725.0 jun oncogene M 0 13.0 17.0 15.0 1 59248091.0 2121.0 4212.0 6333.0 SO:0001587 stop_gained AY217548 CCDS610.1 1p32-p31 2013-01-10 2010-08-27 ENSG00000177606 ENSG00000177606 3725.0 3725.0 """basic leucine zipper proteins""" 6204.0 protein-coding gene gene with protein product 165160.0 """v-jun avian sarcoma virus 17 oncogene homolog"", ""v-jun sarcoma virus 17 oncogene homolog (avian)"", ""jun oncogene""" 3194415 Standard NM_002228 NM_002228 Approved c-Jun, AP-1 uc001cze.3 P05412 OTTHUMG00000008376 ENST00000371222.2:c.652C>T 1.__UNKNOWN__:g.59248091G>A ENSP00000360266:p.Gln218* Q6FHM7|Q96G93 __UNKNOWN__ CCDS610.1 . . . . . . . . . . G 46 12.765566 0.99694 . . ENSG00000177606 ENST00000371222 . . . 4.05 4.05 0.47172 . 0.167469 0.41396 U 0.000897 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.25751 T 0.34 -12.0293 16.4242 0.83809 0.0:0.0:1.0:0.0 . . . . X 218 . ENSP00000360266:Q218X Q - 1 0 JUN 59020679 . . 1.000000 0.80357 0.969000 0.65631 . . 2.098000 0.63641 0.561000 0.74099 CAG JUN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000023042.1 - ENST00000371222.2 Nonsense_Mutation SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY CSMD3 114788 broad.mit.edu 37 8 113237069 113237069 + Silent SNP G G A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr8:113237069G>A ENST00000297405.5 - 71.0 11299 c.11055C>T c.(11053-11055)aaC>aaT p.N3685N CSMD3_ENST00000352409.3_Silent_p.N3615N|CSMD3_ENST00000343508.3_Silent_p.N3645N|CSMD3_ENST00000455883.2_Silent_p.N3516N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3685.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) p.N3685K(1)|p.N3645K(1) 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) 646.0 CTGACTTTGCGTTGGTGTCAT 0.438 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 2 Substitution - Missense(2) lung(2) 391.0 339.0 357.0 8 113237069.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AY210419 CCDS6315.1, CCDS6316.2, CCDS6317.1 8q23.3 2007-01-06 ENSG00000164796 ENSG00000164796 114788.0 114788.0 19291.0 protein-coding gene gene with protein product 608399.0 Standard NM_052900 NM_052900 Approved uc003ynu.3 Q7Z407 OTTHUMG00000157027 ENST00000297405.5:c.11055C>T 8.__UNKNOWN__:g.113237069G>A Q96PZ3 __UNKNOWN__ CCDS6315.1 CSMD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347141.1 - ENST00000297405.5 Silent SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY BRDT 676 broad.mit.edu 37 1 92430246 92430246 + Silent SNP T T C TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr1:92430246T>C ENST00000362005.3 + 4.0 673 c.255T>C c.(253-255)aaT>aaC p.N85N BRDT_ENST00000399546.2_Silent_p.N85N|BRDT_ENST00000402388.1_Silent_p.N85N|BRDT_ENST00000394530.3_Intron|BRDT_ENST00000370389.2_Silent_p.N12N NM_001242805.1 NP_001229734 Q58F21 BRDT_HUMAN bromodomain, testis-specific 85.0 Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}. cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713) 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) 56.0 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GCTTGGAGAATAAATATTATG 0.274 0 30.0 32.0 31.0 1 92430246.0 2189.0 4266.0 6455.0 SO:0001819 synonymous_variant AF019085 CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1 1p22.1 2010-12-23 ENSG00000137948 ENSG00000137948 676.0 676.0 1105.0 protein-coding gene gene with protein product """cancer/testis antigen 9""" 602144.0 9367677 Standard NM_207189 NM_001726 Approved BRD6, CT9 uc010osz.2 Q58F21 OTTHUMG00000010113 ENST00000362005.3:c.255T>C 1.__UNKNOWN__:g.92430246T>C A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6 __UNKNOWN__ CCDS735.1 BRDT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000027980.2 + ENST00000362005.3 Silent SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY ZNF426 79088 broad.mit.edu 37 19 9645923 9645923 + Missense_Mutation SNP G G A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr19:9645923G>A ENST00000589289.1 - 3.0 311 c.58C>T c.(58-60)Cat>Tat p.H20Y ZNF426_ENST00000535489.1_Missense_Mutation_p.H20Y|ZNF426_ENST00000593003.1_Intron|ZNF426_ENST00000253115.2_Missense_Mutation_p.H20Y Q9BUY5 ZN426_HUMAN zinc finger protein 426 20.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20.0 TTTTCTTCATGAAGGCAAACT 0.443 0 211.0 205.0 207.0 19 9645923.0 2203.0 4300.0 6503.0 SO:0001583 missense AK095759 CCDS12215.1, CCDS74279.1 19p13.2 2013-01-08 ENSG00000130818 79088.0 79088.0 """Zinc fingers, C2H2-type"", ""-""" 20725.0 protein-coding gene gene with protein product Standard NM_024106 NM_024106 Approved MGC2663 uc002mlq.3 Q9BUY5 ENST00000589289.1:c.58C>T 19.__UNKNOWN__:g.9645923G>A ENSP00000466469:p.His20Tyr B3KTL2 __UNKNOWN__ . . . . . . . . . . g 6.028 0.373617 0.11409 . . ENSG00000130818 ENST00000253115;ENST00000535489 T;T 0.05258 3.47;3.47 1.24 1.24 0.21308 . . . . . T 0.03783 0.0107 N 0.14661 0.345 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.39921 -0.9590 9 0.41790 T 0.15 . 5.8633 0.18760 0.0:0.0:1.0:0.0 . 20 Q9BUY5 ZN426_HUMAN Y 20 ENSP00000253115:H20Y;ENSP00000439017:H20Y ENSP00000253115:H20Y H - 1 0 ZNF426 9506923 0.001000 0.12720 0.027000 0.17364 0.773000 0.43773 0.876000 0.28092 0.977000 0.38444 0.306000 0.20318 CAT ZNF426-004 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000449907.1 - ENST00000589289.1 Missense_Mutation SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY PDGFRA 5156 broad.mit.edu 37 4 55133522 55133522 + Missense_Mutation SNP A A G TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr4:55133522A>G ENST00000257290.5 + 6.0 1157 c.826A>G c.(826-828)Acg>Gcg p.T276A FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 276.0 Ig-like C2-type 3. adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060) cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967.0 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268) GTACACTTTGACGGTCCCCGA 0.463 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) Pancreas(151;208 1913 7310 23853 37092) Dom yes 4 4q11-q13 5156.0 """platelet-derived growth factor, alpha-receptor""" """L, M, O""" 0 94.0 96.0 95.0 4 55133522.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST, D50001 CCDS3495.1 4q12 2014-09-17 ENSG00000134853 ENSG00000134853 5156.0 5156.0 """CD molecules"", ""Immunoglobulin superfamily / I-set domain containing""" 8803.0 protein-coding gene gene with protein product 173490.0 Standard NM_006206 NM_006206 Approved CD140a, PDGFR2 uc003han.4 P16234 OTTHUMG00000128699 ENST00000257290.5:c.826A>G 4.__UNKNOWN__:g.55133522A>G ENSP00000257290:p.Thr276Ala B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28 __UNKNOWN__ CCDS3495.1 . . . . . . . . . . A 13.18 2.160214 0.38119 . . ENSG00000134853 ENST00000257290 T 0.69435 -0.4 5.67 5.67 0.87782 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.529761 0.13620 U 0.374486 T 0.70254 0.3203 M 0.73962 2.25 0.80722 D 1 B;B 0.22541 0.053;0.071 B;B 0.31946 0.138;0.09 T 0.64141 -0.6477 10 0.18710 T 0.47 . 15.8997 0.79362 1.0:0.0:0.0:0.0 . 276;276 P16234-3;P16234 .;PGFRA_HUMAN A 276 ENSP00000257290:T276A ENSP00000257290:T276A T + 1 0 PDGFRA 54828279 1.000000 0.71417 0.478000 0.27316 0.983000 0.72400 5.843000 0.69424 2.165000 0.68154 0.260000 0.18958 ACG PDGFRA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250598.2 + ENST00000257290.5 Missense_Mutation SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY SSH3 54961 broad.mit.edu 37 11 67079325 67079325 + Silent SNP C C T TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr11:67079325C>T ENST00000308127.4 + 14.0 2125 c.1947C>T c.(1945-1947)agC>agT p.S649S SSH3_ENST00000376757.5_3'UTR|SSH3_ENST00000308298.7_Silent_p.S384S NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 649.0 protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) p.S649S(1) NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19.0 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GACAGGCCAGCGTGCATGACA 0.642 1 Substitution - coding silent(1) lung(1) C 1,4399 0,1,2199 68.0 56.0 60.0 1947 -1.9 1.0 11 60.0 1,8589 1.2+/-3.3 0,1,4294 no coding-synonymous SSH3 NM_017857.3 0,2,6493 TT,TC,CC 0.0116,0.0227,0.0154 649/660 67079325.0 2,12988 2200.0 4295.0 6495.0 SO:0001819 synonymous_variant AF085851 CCDS8157.1 11q13 2013-03-05 2013-03-05 ENSG00000172830 ENSG00000172830 54961.0 54961.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots""" 30581.0 protein-coding gene gene with protein product 606780.0 """slingshot homolog 3 (Drosophila)""" 11832213 Standard NM_018276 NM_017857 Approved FLJ20515, FLJ10928 uc001okj.3 Q8TE77 OTTHUMG00000167105 ENST00000308127.4:c.1947C>T 11.__UNKNOWN__:g.67079325C>T Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7 __UNKNOWN__ CCDS8157.1 SSH3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393167.1 + ENST00000308127.4 Silent SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY RANBP2 5903 broad.mit.edu 37 2 109382805 109382805 + Frame_Shift_Del DEL T T - TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr2:109382805delT ENST00000283195.6 + 20.0 5936 c.5810delT c.(5809-5811)attfs p.I1937fs NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1937.0 carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615) ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270) 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) 129.0 CGTGGTGTGATTTTTGGCCAA 0.413 0 93.0 111.0 105.0 2 109382805.0 2195.0 4282.0 6477.0 SO:0001589 frameshift_variant D42063 CCDS2079.1 2q13 2013-11-14 ENSG00000153201 ENSG00000153201 5903.0 5903.0 """Tetratricopeptide (TTC) repeat domain containing""" 9848.0 protein-coding gene gene with protein product 601181.0 """acute necrotizing encephalopathy 1 (autosomal dominant)""" ANE1 7724562, 19118815 Standard NM_006267 NM_006267 Approved NUP358, ADANE uc002tem.4 P49792 OTTHUMG00000130981 ENST00000283195.6:c.5810delT 2.__UNKNOWN__:g.109382805delT ENSP00000283195:p.Ile1937fs Q13074|Q15280|Q53TE2|Q59FH7 __UNKNOWN__ CCDS2079.1 RANBP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253594.1 + ENST00000283195.6 Frame_Shift_Del DEL PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY Unknown 653018 bcgsc.ca 37 17 18301811 18301811 + Splice_Site SNP A A G TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr17:18301811A>G EVPLL (8850 upstream) : RP1-37N7.3 (12661 downstream) TGGCTCTTGCAGGAGGTGGGC 0.597 0 SO:0001628 intergenic_variant 17.__UNKNOWN__:g.18301811A>G __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY Unknown 643126 bcgsc.ca 37 2 96240701 96240701 + RNA SNP G G T TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr2:96240701G>T RP11-440D17.4 (36484 upstream) : TRIM43 (17064 downstream) TGCCCCATCTGCATGAACTAC 0.483 0 SO:0001628 intergenic_variant 2.__UNKNOWN__:g.96240701G>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY MMP10 4319 ucsc.edu 37 11 102645928 102645928 + Missense_Mutation SNP T T C TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr11:102645928T>C ENST00000279441.4 - 7.0 1093 c.1057A>G c.(1057-1059)Att>Gtt p.I353V NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 353.0 collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334) extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22.0 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) Marimastat(DB00786) CCTTTAAAAATAAAAACGGTG 0.318 0 43.0 44.0 43.0 11 102645928.0 2203.0 4298.0 6501.0 SO:0001583 missense X07820 CCDS8321.1 11q22.3 2008-02-05 2005-08-08 ENSG00000166670 ENSG00000166670 4319.0 4319.0 3.4.24.22 7156.0 protein-coding gene gene with protein product 185260 """matrix metalloproteinase 10 (stromelysin 2)""" STMY2 Standard NM_002425 Approved uc001phg.2 P09238 OTTHUMG00000168083 ENST00000279441.4:c.1057A>G 11.__UNKNOWN__:g.102645928T>C ENSP00000279441:p.Ile353Val B2R9X9|Q53HH9 __UNKNOWN__ CCDS8321.1 . . . . . . . . . . T 0.483 -0.878901 0.02550 . . ENSG00000166670 ENST00000279441 T 0.02446 4.29 4.23 -3.09 0.05331 Hemopexin/matrixin (2); 0.344739 0.22806 N 0.055413 T 0.01695 0.0054 L 0.33093 0.98 0.23082 N 0.998321 B 0.06786 0.001 B 0.12156 0.007 T 0.44283 -0.9338 10 0.23891 T 0.37 . 1.1383 0.01759 0.1503:0.2401:0.2858:0.3238 . 353 P09238 MMP10_HUMAN V 353 ENSP00000279441:I353V ENSP00000279441:I353V I - 1 0 MMP10 102151138 0.000000 0.05858 0.211000 0.23655 0.116000 0.19942 -3.324000 0.00512 -0.310000 0.08766 -0.280000 0.10049 ATT MMP10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398014.1 - ENST00000279441.4 Missense_Mutation SNP PCPG-TCGA-RW-A7CZ-Normal-SM-5EQFY OTUD3 23252 broad.mit.edu 37 1 20232993 20232993 + Missense_Mutation SNP G G A TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr1:20232993G>A ENST00000375120.3 + 7.0 905 c.904G>A c.(904-906)Ggc>Agc p.G302S NM_015207.1 NP_056022.1 Q5T2D3 OTUD3_HUMAN OTU deubiquitinase 3 302.0 protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313) ubiquitin-specific protease activity (GO:0004843) breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1) 9.0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGAGGAGGGTGGCAGTGGTGC 0.468 0 101.0 108.0 106.0 1 20232993.0 1997.0 4191.0 6188.0 SO:0001583 missense AB007928 CCDS41279.1 1p36.13 2014-02-24 2014-02-24 ENSG00000169914 ENSG00000169914 23252.0 23252.0 """OTU domain containing""" 29038.0 protein-coding gene gene with protein product 611758.0 """OTU domain containing 3""" 9455484, 23827681 Standard NM_015207 Approved KIAA0459, DUBA4 uc001bcs.4 Q5T2D3 OTTHUMG00000002696 ENST00000375120.3:c.904G>A 1.__UNKNOWN__:g.20232993G>A ENSP00000364261:p.Gly302Ser O75047 __UNKNOWN__ CCDS41279.1 . . . . . . . . . . G 15.93 2.976893 0.53720 . . ENSG00000169914 ENST00000375120 T 0.29397 1.57 5.78 5.78 0.91487 . 0.102913 0.64402 D 0.000003 T 0.29423 0.0733 L 0.40543 1.245 0.44006 D 0.996713 B 0.25235 0.121 B 0.26310 0.068 T 0.02596 -1.1136 10 0.37606 T 0.19 . 16.7276 0.85427 0.0:0.0:1.0:0.0 . 302 Q5T2D3 OTUD3_HUMAN S 302 ENSP00000364261:G302S ENSP00000364261:G302S G + 1 0 OTUD3 20105580 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 4.218000 0.58554 2.729000 0.93468 0.650000 0.86243 GGC OTUD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007655.1 + ENST00000375120.3 Missense_Mutation SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS ZFP2 80108 broad.mit.edu 37 5 178358732 178358732 + Missense_Mutation SNP A A G TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr5:178358732A>G ENST00000361362.2 + 5.0 948 c.418A>G c.(418-420)Att>Gtt p.I140V ZFP2_ENST00000503510.2_Missense_Mutation_p.I140V|ZFP2_ENST00000523286.1_Missense_Mutation_p.I140V|ZFP2_ENST00000520301.1_Missense_Mutation_p.I140V NM_030613.2 NP_085116.2 Q6ZN57 ZFP2_HUMAN ZFP2 zinc finger protein 140.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20.0 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) GAAACACTTCATTGAACGATC 0.413 0 59.0 63.0 62.0 5 178358732.0 2203.0 4300.0 6503.0 SO:0001583 missense AK025281 CCDS4440.1 5q35.3 2013-01-08 2012-11-27 ENSG00000198939 ENSG00000198939 80108.0 80108.0 """Zinc fingers, C2H2-type""" 26138.0 protein-coding gene gene with protein product """zinc finger protein 2 homolog (mouse)""" Standard NM_030613 NM_030613 Approved FLJ21628, ZNF751 uc003mjn.1 Q6ZN57 OTTHUMG00000130885 ENST00000361362.2:c.418A>G 5.__UNKNOWN__:g.178358732A>G ENSP00000354453:p.Ile140Val A5PLN5|B7ZM23|Q9H6Z6 __UNKNOWN__ CCDS4440.1 . . . . . . . . . . a 9.292 1.050907 0.19827 . . ENSG00000198939 ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510 T;T;T;T 0.05717 3.4;3.4;3.4;3.4 4.71 4.71 0.59529 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.255631 0.20520 N 0.090703 T 0.03915 0.0110 N 0.03294 -0.36 0.27513 N 0.951621 B 0.24675 0.109 B 0.30943 0.122 T 0.38134 -0.9675 10 0.38643 T 0.18 -5.6166 12.1786 0.54199 1.0:0.0:0.0:0.0 . 140 Q6ZN57 ZFP2_HUMAN V 140 ENSP00000354453:I140V;ENSP00000430980:I140V;ENSP00000430531:I140V;ENSP00000438114:I140V ENSP00000354453:I140V I + 1 0 ZFP2 178291338 0.001000 0.12720 1.000000 0.80357 0.840000 0.47671 1.373000 0.34272 1.963000 0.57068 0.482000 0.46254 ATT ZFP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253470.2 + ENST00000361362.2 Missense_Mutation SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS LIMS2 55679 broad.mit.edu 37 2 128412102 128412102 + Silent SNP G G A TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr2:128412102G>A ENST00000324938.5 - 4.0 484 c.327C>T c.(325-327)ggC>ggT p.G109G LIMS2_ENST00000409808.2_Silent_p.G80G|LIMS2_ENST00000409455.1_Silent_p.G80G|LIMS2_ENST00000410011.1_Silent_p.G80G|LIMS2_ENST00000545738.2_Silent_p.G107G|LIMS2_ENST00000355119.4_Silent_p.G85G NM_017980.4 NP_060450.2 Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 85.0 LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}. cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337) cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15.0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) TGATGACGCGGCCAATGATGA 0.607 0 145.0 131.0 136.0 2 128412102.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF520987 CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1 2q21.1 2008-02-05 ENSG00000072163 ENSG00000072163 55679.0 55679.0 16084.0 protein-coding gene gene with protein product 607908.0 Standard NM_017980 NM_017980 Approved uc002tox.3 Q7Z4I7 OTTHUMG00000131529 ENST00000324938.5:c.327C>T 2.__UNKNOWN__:g.128412102G>A A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13 __UNKNOWN__ CCDS2147.1 LIMS2-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000254386.2 - ENST00000324938.5 Silent SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS FADS2 9415 broad.mit.edu 37 11 61605324 61605324 + Silent SNP G G A TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr11:61605324G>A ENST00000522056.1 + 2.0 368 c.189G>A c.(187-189)ctG>ctA p.L63L FADS2_ENST00000278840.4_Silent_p.L94L|FADS2_ENST00000257261.6_Silent_p.L72L|FADS2_ENST00000521849.1_Silent_p.L94L O95864 FADS2_HUMAN fatty acid desaturase 2 94.0 Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}. alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559) endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768) breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20.0 Alpha-Linolenic Acid(DB00132) TTGGTGAACTGGCCCCGGAGG 0.622 0 48.0 38.0 42.0 11 61605324.0 2202.0 4299.0 6501.0 SO:0001819 synonymous_variant AF084559 CCDS8012.1, CCDS60807.1, CCDS60808.1 11q12.2 2013-01-25 ENSG00000134824 ENSG00000134824 9415.0 9415.0 1.14.19.3 """Fatty acid desaturases""" 3575.0 protein-coding gene gene with protein product """delta-6-desaturase""" 606149.0 LLCDL2 Standard NM_004265 NM_004265 Approved FADSD6, D6D, TU13, DES6, SLL0262 uc001nsl.1 O95864 OTTHUMG00000163794 ENST00000522056.1:c.189G>A 11.__UNKNOWN__:g.61605324G>A A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4 __UNKNOWN__ FADS2-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000375583.1 + ENST00000522056.1 Silent SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS GGT1 2678 broad.mit.edu 37 22 25016897 25016897 + Missense_Mutation SNP A A T TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr22:25016897A>T ENST00000400382.1 + 9.0 1348 c.593A>T c.(592-594)gAt>gTt p.D198V GGT1_ENST00000406383.2_Missense_Mutation_p.D198V|GGT1_ENST00000466310.1_Intron|GGT1_ENST00000400383.1_Missense_Mutation_p.D198V|GGT1_ENST00000248923.4_Missense_Mutation_p.D198V|GGT1_ENST00000400380.1_Missense_Mutation_p.D198V P19440 GGT1_HUMAN gamma-glutamyltransferase 1 198.0 arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638) anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374) breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40.0 Glutathione(DB00143) TTCTGCCGGGATAGAAAGGTG 0.642 0 19.0 22.0 21.0 22 25016897.0 1957.0 4130.0 6087.0 SO:0001583 missense M24903 CCDS42992.1 22q11.23 2008-08-15 ENSG00000100031 ENSG00000100031 2678.0 2678.0 2.3.2.2 """CD molecules"", ""Gamma-glutamyltransferases""" 4250.0 protein-coding gene gene with protein product 612346.0 GGT 8104871, 18357469 Standard NM_013430 NM_001288833 Approved D22S672, D22S732, CD224 uc003aan.1 P19440 OTTHUMG00000030859 ENST00000400382.1:c.593A>T 22.__UNKNOWN__:g.25016897A>T ENSP00000383232:p.Asp198Val Q08247|Q14404|Q8TBS1|Q9UMK1 __UNKNOWN__ CCDS42992.1 . . . . . . . . . . . 14.66 2.601472 0.46423 . . ENSG00000100031 ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383 T;T;T;T;T;T 0.10288 2.89;2.89;2.89;2.89;2.89;2.89 3.94 3.94 0.45596 . 1.078920 0.07236 U 0.863345 T 0.18676 0.0448 M 0.79123 2.44 0.21878 N 0.999495 P 0.50528 0.936 B 0.42738 0.396 T 0.23762 -1.0179 10 0.62326 D 0.03 -28.8305 8.7795 0.34783 0.9042:0.0:0.0958:0.0 . 198 P19440 GGT1_HUMAN V 198 ENSP00000248923:D198V;ENSP00000393537:D198V;ENSP00000383232:D198V;ENSP00000383233:D198V;ENSP00000383231:D198V;ENSP00000385975:D198V ENSP00000248923:D198V D + 2 0 GGT1 23346897 0.146000 0.22672 0.001000 0.08648 0.488000 0.33401 3.920000 0.56446 1.564000 0.49628 0.454000 0.30748 GAT GGT1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250797.1 + ENST00000400382.1 Missense_Mutation SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS FLT1 2321 broad.mit.edu 37 13 28919665 28919665 + Nonsense_Mutation SNP C C A TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr13:28919665C>A ENST00000282397.4 - 16.0 2523 c.2272G>T c.(2272-2274)Gag>Tag p.E758* FLT1_ENST00000540678.1_5'UTR NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 758.0 blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084) endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327) 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) 115.0 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) Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268) GTGATCAGCTCCAGATTAGAC 0.403 0 62.0 62.0 62.0 13 28919665.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AF063657 CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1 13q12 2014-09-17 2012-11-19 ENSG00000102755 ENSG00000102755 2321.0 2321.0 2.7.10.1 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 3763.0 protein-coding gene gene with protein product """vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor""" 165070.0 """fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)""" FLT 2158038 Standard NM_001159920 Approved VEGFR1 uc001usb.3 P17948 OTTHUMG00000016648 ENST00000282397.4:c.2272G>T 13.__UNKNOWN__:g.28919665C>A ENSP00000282397:p.Glu758* A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954 __UNKNOWN__ CCDS9330.1 . . . . . . . . . . C 44 11.088426 0.99514 . . ENSG00000102755 ENST00000282397 . . . 5.52 5.52 0.82312 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.29301 T 0.29 . 19.4283 0.94754 0.0:1.0:0.0:0.0 . . . . X 758 . ENSP00000282397:E758X E - 1 0 FLT1 27817665 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 5.972000 0.70448 2.590000 0.87494 0.555000 0.69702 GAG FLT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044322.1 - ENST00000282397.4 Nonsense_Mutation SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS RICTOR 253260 broad.mit.edu 37 5 38950323 38950323 + Silent SNP C C T TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr5:38950323C>T ENST00000357387.3 - 31.0 3657 c.3627G>A c.(3625-3627)acG>acA p.T1209T RICTOR_ENST00000296782.5_Silent_p.T1209T NM_152756.3 NP_689969.2 RPTOR independent companion of MTOR, complex 2 NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75.0 all_lung(31;0.000396) TATGTGAGCTCGTTGAACTTT 0.393 0 216.0 212.0 214.0 5 38950323.0 2202.0 4298.0 6500.0 SO:0001819 synonymous_variant CCDS34148.1, CCDS68861.1 5p13.1 2009-07-09 ENSG00000164327 ENSG00000164327 253260.0 253260.0 28611.0 protein-coding gene gene with protein product """rapamycin-insensitive companion of mTOR"", ""pianissimo""" 609022.0 12477932 Standard NM_152756 XM_005248278 Approved MGC39830, AVO3, PIA, KIAA1999 uc003jlp.2 Q6R327 OTTHUMG00000162037 ENST00000357387.3:c.3627G>A 5.__UNKNOWN__:g.38950323C>T __UNKNOWN__ CCDS34148.1 RICTOR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000366985.1 - ENST00000357387.3 Silent SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS KRTAP10-8 386681 broad.mit.edu 37 21 46032334 46032334 + Missense_Mutation SNP C C T rs141295608 byFrequency TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr21:46032334C>T ENST00000334662.2 + 1.0 339 c.317C>T c.(316-318)cCg>cTg p.P106L TSPEAR_ENST00000323084.4_Intron NM_198695.2 NP_941968.2 P60410 KR108_HUMAN keratin associated protein 10-8 106.0 19 X 5 AA repeats of C-C-X(3). keratin filament (GO:0045095) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 17.0 AGCTGCCAGCCGGCTTGCTGC 0.642 0 C ,LEU/PRO 6,4400 14.3+/-33.2 0,6,2197 104.0 93.0 97.0 ,317 0.5 0.9 21 dbSNP_134 97.0 0,8600 0,0,4300 no intron,missense TSPEAR,KRTAP10-8 NM_144991.2,NM_198695.2 ,98 0,6,6497 TT,TC,CC 0.0,0.1362,0.0461 ,benign ,106/260 46032334.0 6,13000 2203.0 4300.0 6503.0 SO:0001583 missense AB076355 CCDS13713.1 21q22.3 2006-03-13 2004-07-12 2004-07-14 ENSG00000187766 ENSG00000187766 386681.0 386681.0 """Keratin associated proteins""" 20525.0 protein-coding gene gene with protein product """keratin associated protein 18-8""" KRTAP18-8 Standard NM_198695 NM_198695 Approved KRTAP18.8, KAP10.8 uc002zfo.1 P60410 OTTHUMG00000057632 ENST00000334662.2:c.317C>T 21.__UNKNOWN__:g.46032334C>T ENSP00000335565:p.Pro106Leu A0JNW4 __UNKNOWN__ CCDS13713.1 . . . . . . . . . . c 10.94 1.492577 0.26774 0.001362 0.0 ENSG00000187766 ENST00000334662 T 0.01228 5.14 3.78 0.534 0.17127 . . . . . T 0.02610 0.0079 M 0.77103 2.36 0.24354 N 0.994902 B 0.16802 0.019 B 0.10450 0.005 T 0.27502 -1.0072 9 0.59425 D 0.04 . 7.9219 0.29850 0.1596:0.7348:0.0:0.1056 . 106 P60410 KR108_HUMAN L 106 ENSP00000335565:P106L ENSP00000335565:P106L P + 2 0 KRTAP10-8 44856762 0.024000 0.19004 0.914000 0.36105 0.870000 0.49936 0.350000 0.20079 0.204000 0.20548 -1.305000 0.01319 CCG KRTAP10-8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000128035.1 + ENST00000334662.2 Missense_Mutation SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS FAM131B 9715 broad.mit.edu 37 7 143053779 143053779 + Missense_Mutation SNP G G A TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr7:143053779G>A ENST00000443739.2 - 7.0 1095 c.947C>T c.(946-948)gCg>gTg p.A316V FAM131B_ENST00000409222.3_Missense_Mutation_p.A288V|FAM131B_ENST00000409346.1_Missense_Mutation_p.A288V|FAM131B_ENST00000409408.1_Missense_Mutation_p.A288V|FAM131B_ENST00000409578.1_Missense_Mutation_p.A304V NM_001031690.2|NM_001278297.1 NP_001026860.2|NP_001265226.1 Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 288.0 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24.0 Melanoma(164;0.205) CCGGCATCCCGCATCCTCTTC 0.627 0 154.0 163.0 160.0 7 143053779.0 2203.0 4300.0 6503.0 SO:0001583 missense BC045611 CCDS5882.1, CCDS47734.1 7q34 2007-03-20 ENSG00000159784 ENSG00000159784 9715.0 9715.0 22202.0 protein-coding gene gene with protein product Standard NM_014690 NM_014690 Approved KIAA0773 uc010lpa.3 Q86XD5 OTTHUMG00000152697 ENST00000443739.2:c.947C>T 7.__UNKNOWN__:g.143053779G>A ENSP00000410603:p.Ala316Val A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97 __UNKNOWN__ CCDS47734.1 . . . . . . . . . . G 12.60 1.986429 0.35036 . . ENSG00000159784 ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222 T;T;T;T;T 0.20738 2.05;2.05;2.05;2.05;2.05 5.63 4.74 0.60224 . 0.066130 0.64402 D 0.000020 T 0.07728 0.0194 N 0.02960 -0.455 0.34853 D 0.741856 B;B 0.16802 0.009;0.019 B;B 0.08055 0.003;0.003 T 0.28586 -1.0039 10 0.14252 T 0.57 -0.1234 8.9058 0.35523 0.1855:0.0:0.8145:0.0 . 304;288 Q86XD5-2;Q86XD5 .;F131B_HUMAN V 316;304;288;292;288;288 ENSP00000410603:A316V;ENSP00000386568:A304V;ENSP00000386984:A288V;ENSP00000387017:A288V;ENSP00000387147:A288V ENSP00000387147:A288V A - 2 0 FAM131B 142763901 0.992000 0.36948 0.962000 0.40283 0.969000 0.65631 2.772000 0.47678 2.644000 0.89710 0.655000 0.94253 GCG FAM131B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000327425.3 - ENST00000443739.2 Missense_Mutation SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS NF1 4763 broad.mit.edu 37 17 29528481 29528481 + Nonsense_Mutation SNP C C G TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr17:29528481C>G ENST00000358273.4 + 11.0 1621 c.1238C>G c.(1237-1239)tCa>tGa p.S413* NF1_ENST00000431387.4_Nonsense_Mutation_p.S413*|NF1_ENST00000356175.3_Nonsense_Mutation_p.S413* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 413.0 actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060) axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634) phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099) p.0?(8)|p.?(6) 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) 599.0 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) CTGGTAAATTCACTCCATCGA 0.294 """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) yes Rec yes Neurofibromatosis type 1 17 17q12 4763.0 neurofibromatosis type 1 gene O 14 Whole gene deletion(8)|Unknown(6) soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1) 86.0 96.0 92.0 17 29528481.0 2203.0 4294.0 6497.0 SO:0001587 stop_gained Familial Cancer Database NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome CCDS11264.1, CCDS42292.1, CCDS45645.1 17q11.2 2014-09-17 2008-07-31 ENSG00000196712 ENSG00000196712 4763.0 4763.0 7765.0 protein-coding gene gene with protein product """neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease""" 613113.0 1715669 Standard NM_000267 NM_000267 Approved uc002hgg.3 P21359 OTTHUMG00000132871 ENST00000358273.4:c.1238C>G 17.__UNKNOWN__:g.29528481C>G ENSP00000351015:p.Ser413* O00662|Q14284|Q14930|Q14931|Q9UMK3 __UNKNOWN__ CCDS42292.1 . . . . . . . . . . C 25.5 4.648075 0.87958 . . ENSG00000196712 ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735 . . . 5.17 4.18 0.49190 . 0.063541 0.64402 D 0.000003 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.59425 D 0.04 . 14.9841 0.71332 0.1439:0.8561:0.0:0.0 . . . . X 413;413;413;79 . ENSP00000348498:S413X S + 2 0 NF1 26552607 1.000000 0.71417 1.000000 0.80357 0.967000 0.64934 7.194000 0.77789 1.146000 0.42352 0.491000 0.48974 TCA NF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256351.2 + ENST00000358273.4 Nonsense_Mutation SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS PREX2 80243 broad.mit.edu 37 8 68934377 68934377 + Splice_Site SNP T T A TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr8:68934377T>A ENST00000288368.4 + 4.0 718 c.e4+2 PREX2_ENST00000529398.1_Splice_Site 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 adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855) Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676) 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) 178.0 TTTCTTTTGGTAAGTGTATAT 0.338 0 98.0 93.0 94.0 8 68934377.0 2202.0 4300.0 6502.0 SO:0001630 splice_region_variant AK024079 CCDS6201.1 8q13.1 2014-06-13 2008-09-15 2008-09-15 ENSG00000046889 ENSG00000046889 80243.0 80243.0 """Rho guanine nucleotide exchange factors""" 22950.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 129""" 612139.0 """DEP domain containing 2""" DEPDC2 15304342, 15304343 Standard NM_025170 NM_024870 Approved DEP.2, FLJ12987, P-REX2, PPP1R129 uc003xxv.1 Q70Z35 OTTHUMG00000164402 ENST00000288368.4:c.441+2T>A 8.__UNKNOWN__:g.68934377T>A B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961 __UNKNOWN__ CCDS6201.1 . . . . . . . . . . T 16.08 3.022780 0.54683 . . ENSG00000046889 ENST00000288368;ENST00000396539;ENST00000354677 . . . 6.04 4.9 0.64082 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 11.6392 0.51222 0.0:0.0685:0.0:0.9315 . . . . . -1 . . . + . . PREX2 69096931 1.000000 0.71417 1.000000 0.80357 0.541000 0.35023 5.950000 0.70265 2.317000 0.78254 0.460000 0.39030 . PREX2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378620.1 Intron + ENST00000288368.4 Splice_Site SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS OR10A3 26496 broad.mit.edu 37 11 7960834 7960834 + Silent SNP C C T TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr11:7960834C>T ENST00000360759.3 - 1.0 307 c.234G>A c.(232-234)acG>acA p.T78T NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 78.0 detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21.0 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCATTTCAGGCGTAATGACTG 0.448 0 127.0 115.0 119.0 11 7960834.0 2201.0 4296.0 6497.0 SO:0001819 synonymous_variant BK004404 CCDS31421.1 11p15.4 2012-08-09 ENSG00000170683 ENSG00000170683 26496.0 26496.0 """GPCR / Class A : Olfactory receptors""" 8162.0 protein-coding gene gene with protein product 1370859 Standard NM_001003745 NM_001003745 Approved HTPCRX12, HSHTPCRX12 uc010rbi.2 P58181 OTTHUMG00000165672 ENST00000360759.3:c.234G>A 11.__UNKNOWN__:g.7960834C>T B9EH39|Q6IF58|Q96R11 __UNKNOWN__ CCDS31421.1 OR10A3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385704.1 - ENST00000360759.3 Silent SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS PRMT1 0 broad.mit.edu 37 19 50185323 50185323 + Splice_Site SNP G G C TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr19:50185323G>C ENST00000391851.4 + 3.0 423 c.e3+1 PRMT1_ENST00000454376.2_Splice_Site|PRMT1_ENST00000532489.1_Splice_Site NM_198318.4 NP_938074.2 Q99873 ANM1_HUMAN protein arginine methyltransferase 1 cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242) cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2) 12.0 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;0.00103)|GBM - Glioblastoma multiforme(134;0.012) GGTCATCGGGGTGAGTCTCCA 0.682 0 36.0 39.0 38.0 19 50185323.0 2202.0 4299.0 6501.0 SO:0001630 splice_region_variant D66904 CCDS42592.1, CCDS46145.1, CCDS74425.1 19q13 2014-06-12 2006-02-16 2006-02-16 ENSG00000126457 ENSG00000126457 3276.0 3276.0 2.1.1.125 """Protein arginine methyltransferases""" 5187.0 protein-coding gene gene with protein product 602950.0 """HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2"", ""HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)""" HRMT1L2 9545638 Standard NM_001536 NM_001207042 Approved HCP1, ANM1 uc010enf.2 Q99873 OTTHUMG00000167568 ENST00000391851.4:c.294+1G>C 19.__UNKNOWN__:g.50185323G>C B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06 __UNKNOWN__ CCDS42592.1 . . . . . . . . . . g 14.23 2.473067 0.43942 . . ENSG00000126457 ENST00000529284;ENST00000532489;ENST00000527382;ENST00000534465;ENST00000391851;ENST00000449059;ENST00000454376;ENST00000524771;ENST00000529836;ENST00000526224;ENST00000527412 . . . 4.6 4.6 0.57074 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 15.2955 0.73902 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . PRMT1 54877135 1.000000 0.71417 1.000000 0.80357 0.464000 0.32679 9.215000 0.95146 2.560000 0.86352 0.549000 0.68633 . PRMT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395065.1 Intron + ENST00000391851.4 Splice_Site SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS SPAG4 6676 broad.mit.edu 37 20 34205716 34205716 + Silent SNP C C T TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr20:34205716C>T ENST00000374273.3 + 4.0 604 c.492C>T c.(490-492)atC>atT p.I164I SPAG4_ENST00000462896.1_Intron NM_003116.1 NP_003107.1 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 164.0 spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514) structural molecule activity (GO:0005198) p.I164I(1) NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1) 21.0 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) TCTGTTCCATCCGCTTCCTGT 0.637 1 Substitution - coding silent(1) lung(1) 73.0 71.0 72.0 20 34205716.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF043344 CCDS13259.1 20q11.2 2010-04-23 ENSG00000061656 ENSG00000061656 6676.0 6676.0 11214.0 protein-coding gene gene with protein product """acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127""" 603038.0 9691178, 10373309 Standard NM_003116 NM_003116 Approved SUN4, CT127 uc002xdb.1 Q9NPE6 OTTHUMG00000032352 ENST00000374273.3:c.492C>T 20.__UNKNOWN__:g.34205716C>T O43648 __UNKNOWN__ CCDS13259.1 SPAG4-001 KNOWN mRNA_start_NF|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078896.1 + ENST00000374273.3 Silent SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS CPSF7 79869 broad.mit.edu 37 11 61183138 61183148 + Splice_Site DEL CTGCACTGGCT CTGCACTGGCT - TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr11:61183138_61183148delCTGCACTGGCT ENST00000439958.3 - 7.0 1202_1212 c.1047_1057delAGCCAGTGCAG c.(1045-1059)ggagccagtgcaggg>gggg p.GASAG349fs CPSF7_ENST00000340437.4_Splice_Site_p.GASAG401fs|CPSF7_ENST00000448745.1_Splice_Site_p.GASAG349fs|CPSF7_ENST00000394888.4_Splice_Site_p.GASAG358fs NM_001142565.1 NP_001136037.1 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 358.0 gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22.0 ACTGAGTTACCTGCACTGGCTCCAGATACTG 0.436 0 SO:0001630 splice_region_variant CCDS8006.2, CCDS44619.1, CCDS44620.1 11q12.2 2013-06-18 ENSG00000149532 ENSG00000149532 79869.0 79869.0 """RNA binding motif (RRM) containing""" 30098.0 protein-coding gene gene with protein product """pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit""" 12477932 Standard NM_024811 NM_024811 Approved FLJ12529 uc001nrp.3 Q8N684 OTTHUMG00000168198 ENST00000439958.3:c.1057+1AGCCAGTGCAG>- 11.__UNKNOWN__:g.61183138_61183148delCTGCACTGGCT B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1 __UNKNOWN__ CCDS44620.1 CPSF7-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347834.2 Frame_Shift_Del - ENST00000439958.3 Splice_Site DEL PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS Unknown 441795 bcgsc.ca 37 17 40800408 40800408 + RNA SNP T T C TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr17:40800408T>C TUBG1 (33156 upstream) : TUBG2 (10914 downstream) AAGTGCACTATGATCAGGAAA 0.428 0 SO:0001628 intergenic_variant 17.__UNKNOWN__:g.40800408T>C __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS Unknown 0 bcgsc.ca 37 1 157678883 157678883 + RNA SNP G G A TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr1:157678883G>A FCRL3 (8236 upstream) : FCRL2 (36639 downstream) TCCCCAAGCCGCCGGAGCCAC 0.527 0 SO:0001628 intergenic_variant 1.__UNKNOWN__:g.157678883G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS KPNA1 3836 ucsc.edu 37 3 122172795 122172795 + Silent SNP G G A TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr3:122172795G>A ENST00000344337.6 - 6.0 662 c.486C>T c.(484-486)acC>acT p.T162T KPNA1_ENST00000466923.1_5'UTR NM_002264.3 NP_002255.3 P52294 IMA5_HUMAN karyopherin alpha 1 (importin alpha 5) 162.0 NLS binding site (major). {ECO:0000250}. apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565) NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 21.0 GBM - Glioblastoma multiforme(114;0.0898) TCACAATTCGGGTCTGAAGAG 0.353 Melanoma(12;340 801 11196 19797) 0 65.0 64.0 64.0 3 122172795.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant S75295 CCDS3013.1 3q21 2013-02-14 ENSG00000114030 ENSG00000114030 3836.0 3836.0 """Importins"", ""Armadillo repeat containing""" 6394.0 protein-coding gene gene with protein product 600686 8052633 Standard NM_002264 NM_002264 Approved SRP1, RCH2, NPI-1, IPOA5 uc003efe.2 P52294 OTTHUMG00000159487 ENST00000344337.6:c.486C>T 3.__UNKNOWN__:g.122172795G>A D3DN93|Q6IBQ9|Q9BQ56 __UNKNOWN__ CCDS3013.1 KPNA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355740.1 - ENST00000344337.6 Silent SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS SRPR 6734 ucsc.edu 37 11 126134279 126134279 + Missense_Mutation SNP C C T TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr11:126134279C>T ENST00000532259.1 - 11.0 1774 c.1597G>A c.(1597-1599)Gac>Aac p.D533N SRPR_ENST00000332118.6_Missense_Mutation_p.D561N NM_001177842.1 NP_001171313.1 P08240 SRPR_HUMAN signal recognition particle receptor (docking protein) 561.0 activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047) endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21.0 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) ACCAGCTGGTCCACGGCTTCA 0.473 0 106.0 92.0 97.0 11 126134279.0 2201.0 4299.0 6500.0 SO:0001583 missense BC001162 CCDS31717.1, CCDS53722.1 11q24-q25 2012-10-02 2008-10-29 ENSG00000182934 ENSG00000182934 6734.0 6734.0 11307.0 protein-coding gene gene with protein product 182180 """signal recognition particle receptor ('docking protein')""" 3340536, 1312991 Standard NM_003139 NM_001177842 Approved SRP-alpha, Sralpha uc001qdh.3 P08240 OTTHUMG00000165826 ENST00000532259.1:c.1597G>A 11.__UNKNOWN__:g.126134279C>T ENSP00000435508:p.Asp533Asn A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4 __UNKNOWN__ CCDS53722.1 . . . . . . . . . . C 26.6 4.755360 0.89843 . . ENSG00000182934 ENST00000332118;ENST00000532259 . . . 5.43 5.43 0.79202 ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2); 0.000000 0.85682 D 0.000000 T 0.63295 0.2499 N 0.17800 0.525 0.80722 D 1 D;D 0.65815 0.995;0.995 D;D 0.67382 0.951;0.951 T 0.61123 -0.7126 9 0.33940 T 0.23 -21.8626 19.4521 0.94872 0.0:1.0:0.0:0.0 . 533;561 E9PJS4;P08240 .;SRPR_HUMAN N 561;533 . ENSP00000328023:D561N D - 1 0 SRPR 125639489 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.651000 0.83577 2.826000 0.97356 0.637000 0.83480 GAC SRPR-002 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000386426.1 - ENST00000532259.1 Missense_Mutation SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS TGFBR3 7049 ucsc.edu 37 1 92224293 92224293 + Silent SNP C C T TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr1:92224293C>T ENST00000525962.1 - 3.0 322 c.261G>A c.(259-261)ctG>ctA p.L87L TGFBR3_ENST00000212355.4_Silent_p.L87L|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Silent_p.L87L Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 87.0 blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578) coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114) 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) 55.0 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) AGATGGGATTCAGGTGAAGTG 0.498 0 139.0 118.0 125.0 1 92224293.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant L07594 CCDS30770.1, CCDS55614.1 1p33-p32 2008-02-05 2007-02-15 ENSG00000069702 ENSG00000069702 7049.0 7049.0 """Proteoglycans / Cell surface : Other""" 11774.0 protein-coding gene gene with protein product """betaglycan proteoglycan""" 600742 """transforming growth factor, beta receptor III (betaglycan, 300kDa)""" 1333192, 1319842 Standard NM_003243 NM_001195684 Approved betaglycan, BGCAN uc001doh.3 Q03167 OTTHUMG00000010097 ENST00000525962.1:c.261G>A 1.__UNKNOWN__:g.92224293C>T A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2 __UNKNOWN__ CCDS30770.1 TGFBR3-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000382308.1 - ENST00000525962.1 Silent SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS TTC24 164118 ucsc.edu 37 1 156554984 156554984 + Missense_Mutation SNP G G A TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr1:156554984G>A ENST00000368237.3 + 7.0 1417 c.1417G>A c.(1417-1419)Gca>Aca p.A473T TTC24_ENST00000368236.3_Missense_Mutation_p.A473T|TTC24_ENST00000478081.1_3'UTR A2A3L6 TTC24_HUMAN tetratricopeptide repeat domain 24 473.0 p.A473P(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1) 20.0 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGAGAGGTCGGCAAACGTTCC 0.562 1 Substitution - Missense(1) lung(1) 63.0 77.0 73.0 1 156554984.0 1973.0 4145.0 6118.0 SO:0001583 missense CCDS53379.1 1q22 2013-01-10 ENSG00000187862 ENSG00000187862 164118.0 164118.0 """Tetratricopeptide (TTC) repeat domain containing""" 32348.0 protein-coding gene gene with protein product Standard XM_089384 NM_001105669 Approved uc021pbf.1 A2A3L6 OTTHUMG00000033202 ENST00000368237.3:c.1417G>A 1.__UNKNOWN__:g.156554984G>A ENSP00000357220:p.Ala473Thr Q5T3H7 __UNKNOWN__ CCDS53379.1 . . . . . . . . . . G 11.32 1.602924 0.28534 . . ENSG00000187862 ENST00000368236;ENST00000368237 T;T 0.24538 1.85;1.85 4.05 -1.54 0.08584 . 2.189130 0.02550 N 0.095615 T 0.04815 0.0130 L 0.27053 0.805 0.09310 N 1 B 0.09022 0.002 B 0.09377 0.004 T 0.23547 -1.0185 10 0.19590 T 0.45 -0.4943 4.411 0.11432 0.3949:0.1624:0.4426:0.0 . 473 A2A3L6 TTC24_HUMAN T 473 ENSP00000357219:A473T;ENSP00000357220:A473T ENSP00000357219:A473T A + 1 0 TTC24 154821608 0.000000 0.05858 0.000000 0.03702 0.008000 0.06430 -0.708000 0.05035 -0.414000 0.07495 -0.379000 0.06801 GCA TTC24-006 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000158547.1 + ENST00000368237.3 Missense_Mutation SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS ZNF408 79797 ucsc.edu 37 11 46727387 46727387 + Missense_Mutation SNP G G A TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr11:46727387G>A ENST00000311764.2 + 5.0 2367 c.2137G>A c.(2137-2139)Gtg>Atg p.V713M NM_001184751.1|NM_024741.2 NP_001171680.1|NP_079017.1 Q9H9D4 ZN408_HUMAN zinc finger protein 408 713.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21.0 CTGGGCAGAGGTGGTGGAGGT 0.572 Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525) 0 G MET/VAL,MET/VAL 0,4402 0,0,2201 25.0 25.0 25.0 2113,2137 5.2 0.9 11 25.0 3,8595 3.0+/-9.4 0,3,4296 yes missense,missense ZNF408 NM_001184751.1,NM_024741.2 21,21 0,3,6497 AA,AG,GG 0.0349,0.0,0.0231 probably-damaging,probably-damaging 705/713,713/721 46727387.0 3,12997 2201.0 4299.0 6500.0 SO:0001583 missense AF346626 CCDS7923.1 11p11.2 2008-02-05 ENSG00000175213 ENSG00000175213 79797.0 79797.0 """Zinc fingers, C2H2-type""" 20041.0 protein-coding gene gene with protein product 15231747 Standard NM_024741 NM_024741 Approved FLJ12827 uc010rgw.2 Q9H9D4 OTTHUMG00000166568 ENST00000311764.2:c.2137G>A 11.__UNKNOWN__:g.46727387G>A ENSP00000309606:p.Val713Met __UNKNOWN__ CCDS7923.1 . . . . . . . . . . G 28.4 4.918736 0.92249 0.0 3.49E-4 ENSG00000175213 ENST00000311764 T 0.13538 2.58 5.21 5.21 0.72293 . 0.000000 0.38778 N 0.001573 T 0.26955 0.0660 L 0.36672 1.1 0.39546 D 0.968894 D;D 0.71674 0.998;0.998 P;P 0.60173 0.87;0.87 T 0.02301 -1.1180 10 0.87932 D 0 -7.9368 18.7716 0.91894 0.0:0.0:1.0:0.0 . 705;713 B4DXY4;Q9H9D4 .;ZN408_HUMAN M 713 ENSP00000309606:V713M ENSP00000309606:V713M V + 1 0 ZNF408 46683963 1.000000 0.71417 0.901000 0.35422 0.927000 0.56198 3.617000 0.54181 2.438000 0.82558 0.563000 0.77884 GTG ZNF408-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390485.2 + ENST00000311764.2 Missense_Mutation SNP PCPG-TCGA-RW-A7D0-Normal-SM-5EQFS BIRC6 57448 broad.mit.edu 37 2 32693033 32693033 + Nonsense_Mutation SNP C C G TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr2:32693033C>G ENST00000421745.2 + 28.0 5768 c.5634C>G c.(5632-5634)taC>taG p.Y1878* NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 1878.0 apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712) endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802) acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842) 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) 172.0 Acute lymphoblastic leukemia(172;0.155) TAGGATTTTACTATGGTCATA 0.383 Pancreas(94;175 1509 16028 18060 45422) 0 64.0 66.0 65.0 2 32693033.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AF265555 CCDS33175.2 2p22.3 2011-01-25 2011-01-25 ENSG00000115760 ENSG00000115760 57448.0 57448.0 """Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2""" 13516.0 protein-coding gene gene with protein product """apollon""" 605638.0 """baculoviral IAP repeat-containing 6""" 10544019 Standard NM_016252 NM_016252 Approved BRUCE uc010ezu.3 Q9NR09 OTTHUMG00000150528 ENST00000421745.2:c.5634C>G 2.__UNKNOWN__:g.32693033C>G ENSP00000393596:p.Tyr1878* Q9ULD1 __UNKNOWN__ CCDS33175.2 . . . . . . . . . . C 46 12.265692 0.99652 . . ENSG00000115760 ENST00000421745 . . . 5.9 4.84 0.62591 . 0.138414 0.50627 D 0.000117 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.09590 T 0.72 . 13.6899 0.62539 0.0:0.8862:0.0:0.1138 . . . . X 1878 . ENSP00000393596:Y1878X Y + 3 2 BIRC6 32546537 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 0.931000 0.28871 2.822000 0.97130 0.650000 0.86243 TAC BIRC6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318769.3 + ENST00000421745.2 Nonsense_Mutation SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI IWS1 55677 broad.mit.edu 37 2 128262518 128262518 + Missense_Mutation SNP A A G TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr2:128262518A>G ENST00000295321.4 - 3.0 1220 c.961T>C c.(961-963)Tcc>Ccc p.S321P AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.S328P NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 321.0 Glu-rich. mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677) cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28.0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) TTGTGTCTGGACGCATCCTCA 0.517 0 170.0 162.0 164.0 2 128262518.0 2203.0 4300.0 6503.0 SO:0001583 missense AK000868 CCDS2146.1 2q14.3 2006-03-17 ENSG00000163166 ENSG00000163166 55677.0 55677.0 25467.0 protein-coding gene gene with protein product Standard NM_017969 NM_017969 Approved DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319 uc002ton.2 Q96ST2 OTTHUMG00000131527 ENST00000295321.4:c.961T>C 2.__UNKNOWN__:g.128262518A>G ENSP00000295321:p.Ser321Pro Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8 __UNKNOWN__ CCDS2146.1 . . . . . . . . . . A 6.624 0.483560 0.12581 . . ENSG00000163166 ENST00000295321;ENST00000433551;ENST00000455721 T;T 0.33216 1.42;1.44 5.93 0.562 0.17290 . 0.468960 0.22044 N 0.065417 T 0.16896 0.0406 L 0.34521 1.04 0.33180 D 0.549406 B 0.06786 0.001 B 0.01281 0.0 T 0.11842 -1.0571 10 0.26408 T 0.33 -2.4549 3.1142 0.06369 0.4462:0.3279:0.1205:0.1054 . 321 Q96ST2 IWS1_HUMAN P 321;274;328 ENSP00000295321:S321P;ENSP00000399245:S328P ENSP00000295321:S321P S - 1 0 IWS1 127978988 0.159000 0.22864 0.101000 0.21167 0.227000 0.25037 0.522000 0.22909 -0.117000 0.11872 0.460000 0.39030 TCC IWS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254384.2 - ENST00000295321.4 Missense_Mutation SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI CCDC110 256309 broad.mit.edu 37 4 186379809 186379809 + Silent SNP A A G TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr4:186379809A>G ENST00000510617.1 - 6.0 1992 c.1932T>C c.(1930-1932)ctT>ctC p.L644L CCDC110_ENST00000393540.3_Silent_p.L607L|CCDC110_ENST00000307588.3_Silent_p.L644L Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 644.0 nucleus (GO:0005634) NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30.0 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) ATGTTGTTTCAAGGTTGAGTT 0.338 0 89.0 94.0 92.0 4 186379809.0 2202.0 4296.0 6498.0 SO:0001819 synonymous_variant AB080722 CCDS3843.1, CCDS47170.1 4q35.1 2010-12-24 ENSG00000168491 ENSG00000168491 256309.0 256309.0 28504.0 protein-coding gene gene with protein product """cancer/testis antigen 52""" 609488.0 18160854 Standard NM_152775 NM_152775 Approved KM-HN-1, MGC33607, CT52 uc003ixu.4 Q8TBZ0 OTTHUMG00000160415 ENST00000510617.1:c.1932T>C 4.__UNKNOWN__:g.186379809A>G Q86YI9|Q8N7W0 __UNKNOWN__ CCDC110-003 NOVEL not_organism_supported|basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000360521.2 - ENST00000510617.1 Silent SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI SPHKAP 80309 broad.mit.edu 37 2 228882283 228882283 + Missense_Mutation SNP T T A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr2:228882283T>A ENST00000392056.3 - 7.0 3333 c.3287A>T c.(3286-3288)tAt>tTt p.Y1096F SPHKAP_ENST00000344657.5_Missense_Mutation_p.Y1096F NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1096.0 extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018) protein kinase A binding (GO:0051018) 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) 185.0 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) GCTGTTGACATAGGCCCTGGC 0.602 0 32.0 33.0 33.0 2 228882283.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS33389.1, CCDS46537.1 2q36.3 2010-08-20 ENSG00000153820 ENSG00000153820 80309.0 80309.0 """A-kinase anchor proteins""" 30619.0 protein-coding gene gene with protein product """sphingosine kinase type 1-interacting protein""" 611646.0 12080051, 11214970 Standard NM_030623 NM_030623 Approved SKIP uc002vpq.2 Q2M3C7 OTTHUMG00000153584 ENST00000392056.3:c.3287A>T 2.__UNKNOWN__:g.228882283T>A ENSP00000375909:p.Tyr1096Phe Q68DA3|Q68DR8|Q9C0I5 __UNKNOWN__ CCDS46537.1 . . . . . . . . . . T 0.752 -0.772613 0.02951 . . ENSG00000153820 ENST00000392056;ENST00000344657 T;T 0.11063 2.81;2.81 5.55 -3.72 0.04411 . 0.752720 0.13333 N 0.395743 T 0.02342 0.0072 N 0.02539 -0.55 0.09310 N 1 B;B;B 0.12013 0.001;0.003;0.005 B;B;B 0.13407 0.003;0.001;0.009 T 0.42258 -0.9462 10 0.09843 T 0.71 . 0.7685 0.01020 0.4224:0.1477:0.2188:0.211 . 127;1096;1096 B3KR30;Q2M3C7;Q2M3C7-2 .;SPKAP_HUMAN;. F 1096 ENSP00000375909:Y1096F;ENSP00000339886:Y1096F ENSP00000339886:Y1096F Y - 2 0 SPHKAP 228590527 0.000000 0.05858 0.000000 0.03702 0.252000 0.25951 -0.091000 0.11146 -0.340000 0.08388 0.533000 0.62120 TAT SPHKAP-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000331750.1 - ENST00000392056.3 Missense_Mutation SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI YME1L1 10730 broad.mit.edu 37 10 27406652 27406652 + Silent SNP A A C TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr10:27406652A>C ENST00000376016.3 - 15.0 1753 c.1572T>G c.(1570-1572)ccT>ccG p.P524P YME1L1_ENST00000326799.3_Silent_p.P581P|YME1L1_ENST00000375972.3_Silent_p.P491P NM_014263.3 NP_055078.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 581.0 cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005) integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23.0 TTCTTCTTTCAGGCCCTAAGA 0.323 0 175.0 153.0 161.0 10 27406652.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AJ132637 CCDS7151.1, CCDS7152.1, CCDS58072.1 10p14 2013-06-10 2013-06-10 ENSG00000136758 ENSG00000136758 10730.0 10730.0 """ATPases / AAA-type""" 12843.0 protein-coding gene gene with protein product 607472.0 """YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)""" 22262461 Standard NM_139312 NM_139312 Approved uc001itj.3 Q96TA2 OTTHUMG00000017853 ENST00000376016.3:c.1572T>G 10.__UNKNOWN__:g.27406652A>C B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9 __UNKNOWN__ CCDS7151.1 YME1L1-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047305.1 - ENST00000376016.3 Silent SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI MUC16 94025 broad.mit.edu 37 19 9000200 9000200 + Missense_Mutation SNP G G C TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr19:9000200G>C ENST00000397910.4 - 55.0 40760 c.40557C>G c.(40555-40557)ttC>ttG p.F13519L MUC16_ENST00000380951.5_Missense_Mutation_p.F160L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13521.0 SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}. Missing (in Ref. 3; AAK74120). {ECO:0000305}. cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982) 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) 590.0 TGGTGTTCTTGAACACAGGCC 0.562 0 113.0 94.0 100.0 19 9000200.0 2026.0 4186.0 6212.0 SO:0001583 missense AF414442 CCDS54212.1 19p13.2 2008-02-05 2006-03-14 ENSG00000181143 94025.0 94025.0 """Mucins""" 15582.0 protein-coding gene gene with protein product 606154.0 11369781 Standard NM_024690 XM_006722941 Approved CA125, FLJ14303 uc002mkp.3 Q8WXI7 ENST00000397910.4:c.40557C>G 19.__UNKNOWN__:g.9000200G>C ENSP00000381008:p.Phe13519Leu Q6ZQW5|Q96RK2 __UNKNOWN__ CCDS54212.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. 11.91|11.91 1.781119|1.781119 0.31502|0.31502 .|. .|. ENSG00000181143|ENSG00000181143 ENST00000397910;ENST00000380951|ENST00000542240 T;T|. 0.48836|. 0.8;0.8|. 2.9|2.9 -1.28|-1.28 0.09318|0.09318 SEA (3);|. .|. .|. .|. .|. T|. 0.50137|. 0.1598|. M|M 0.75264|0.75264 2.295|2.295 .|. .|. .|. B;P|. 0.42161|. 0.001;0.772|. B;D|. 0.65010|. 0.007;0.931|. T|. 0.55761|. -0.8090|. 8|. 0.32370|. T|. 0.25|. -15.5012|-15.5012 5.1141|5.1141 0.14825|0.14825 0.1316:0.4103:0.4581:0.0|0.1316:0.4103:0.4581:0.0 .|. 21164;13519|. Q8WXI7;B5ME49|. MUC16_HUMAN;.|. L|X 13519;160|359 ENSP00000381008:F13519L;ENSP00000370338:F160L|. ENSP00000370338:F160L|. F|S -|- 3|2 2|0 MUC16|MUC16 8861200|8861200 0.153000|0.153000 0.22777|0.22777 0.043000|0.043000 0.18650|0.18650 0.078000|0.078000 0.17371|0.17371 0.507000|0.507000 0.22675|0.22675 -0.252000|-0.252000 0.09528|0.09528 -0.680000|-0.680000 0.03767|0.03767 TTC|TCA MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402806.1 - ENST00000397910.4 Missense_Mutation SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI ZNF687 57592 broad.mit.edu 37 1 151260658 151260658 + Missense_Mutation SNP C C T TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr1:151260658C>T ENST00000368879.2 + 2.0 1989 c.1891C>T c.(1891-1893)Cct>Tct p.P631S NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 631.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) 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) 32.0 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TCTGGCCTTGCCTGCCTTGGG 0.642 0 58.0 53.0 55.0 1 151260658.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS992.1 1q21.2 2008-05-02 ENSG00000143373 ENSG00000143373 57592.0 57592.0 29277.0 protein-coding gene gene with protein product 610568.0 10718198 Standard NM_020832 NM_020832 Approved KIAA1441 uc001exq.3 Q8N1G0 OTTHUMG00000012347 ENST00000368879.2:c.1891C>T 1.__UNKNOWN__:g.151260658C>T ENSP00000357874:p.Pro631Ser D3DV17|Q68DQ8|Q9H937|Q9P2A7 __UNKNOWN__ . . . . . . . . . . C 0.015 -1.569101 0.00895 . . ENSG00000143373 ENST00000336715;ENST00000324048;ENST00000368879 T;T;T 0.00882 5.58;5.58;5.93 5.26 2.24 0.28232 . 0.228496 0.22421 N 0.060288 T 0.00144 0.0004 N 0.01576 -0.805 0.19300 N 0.999978 B;B;B 0.18310 0.01;0.0;0.027 B;B;B 0.17722 0.007;0.001;0.019 T 0.19877 -1.0292 10 0.09590 T 0.72 . 9.7155 0.40272 0.0:0.5829:0.3342:0.0829 . 631;631;631 Q8N1G0-2;Q8N1G0;F8WCX2 .;ZN687_HUMAN;. S 631 ENSP00000336620:P631S;ENSP00000319829:P631S;ENSP00000357874:P631S ENSP00000319829:P631S P + 1 0 ZNF687 149527282 0.978000 0.34361 0.924000 0.36721 0.006000 0.05464 1.258000 0.32944 0.785000 0.33685 0.655000 0.94253 CCT ZNF687-201 KNOWN basic protein_coding protein_coding + ENST00000368879.2 Missense_Mutation SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI PRKAR1A 5573 broad.mit.edu 37 17 66521051 66521051 + Splice_Site SNP A A G TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr17:66521051A>G ENST00000588188.2 + 5.0 502 c.e5-1 PRKAR1A_ENST00000358598.2_Splice_Site|PRKAR1A_ENST00000589228.1_Splice_Site|PRKAR1A_ENST00000586397.1_Splice_Site|PRKAR1A_ENST00000536854.2_Splice_Site|PRKAR1A_ENST00000392711.1_Splice_Site NM_001276290.1 NP_001263219.1 P10644 KAP0_HUMAN protein kinase, cAMP-dependent, regulatory, type I, alpha activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833) AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234) cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625) 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) 31.0 Breast(10;1.64e-13) ACCCTCTTTTAGGTGATGAAG 0.289 """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 Ovarian(167;637 1670 33025 39608 46699 51856) yes """Dom, Rec""" yes Carney complex 17 17q23-q24 5573.0 """protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)""" """E, M""" 0 112.0 119.0 116.0 17 66521051.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant Familial Cancer Database iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome; CCDS11678.1, CCDS62307.1 17q24.2 2014-09-17 2012-07-31 ENSG00000108946 ENSG00000108946 5573.0 5573.0 2.7.11.1 9388.0 protein-coding gene gene with protein product """Carney complex type 1""" 188830.0 """tissue specific extinguisher 1""" PRKAR1, TSE1 3479018, 10973256 Standard NM_212471 Approved CNC1 uc002jhg.4 P10644 OTTHUMG00000180128 ENST00000588188.2:c.503-1A>G 17.__UNKNOWN__:g.66521051A>G K7ER48|Q567S7 __UNKNOWN__ . . . . . . . . . . A 21.9 4.212374 0.79240 . . ENSG00000108946 ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854 . . . 5.84 5.84 0.93424 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 16.1973 0.82040 1.0:0.0:0.0:0.0 . . . . . -1 . . . + . . PRKAR1A 64032646 1.000000 0.71417 0.939000 0.37840 0.908000 0.53690 8.962000 0.93254 2.222000 0.72286 0.533000 0.62120 . PRKAR1A-006 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000449895.2 Intron + ENST00000588188.2 Splice_Site SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI BICD1 636 broad.mit.edu 37 12 32480574 32480574 + Missense_Mutation SNP G G C TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr12:32480574G>C ENST00000281474.5 + 5.0 1288 c.1185G>C c.(1183-1185)aaG>aaC p.K395N BICD1_ENST00000548411.1_Missense_Mutation_p.K395N NM_001714.2 NP_001705.2 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 395.0 anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032) cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802) cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200) NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46.0 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) ACGGGGAGAAGGGCCGGGACT 0.577 0 52.0 48.0 50.0 12 32480574.0 2203.0 4300.0 6503.0 SO:0001583 missense U90028 CCDS8726.1, CCDS44859.1 12p11.2-p11.1 2005-01-13 2001-11-28 ENSG00000151746 636.0 636.0 1049.0 protein-coding gene gene with protein product 602204.0 """Bicaudal D (Drosophila) homolog 1""" 9367685 Standard NM_001714 NM_001714 Approved uc001rku.3 Q96G01 OTTHUMG00000169307 ENST00000281474.5:c.1185G>C 12.__UNKNOWN__:g.32480574G>C ENSP00000281474:p.Lys395Asn A8K2C3|F8W113|O43892|O43893 __UNKNOWN__ CCDS8726.1 . . . . . . . . . . G 15.02 2.709391 0.48517 . . ENSG00000151746 ENST00000548411;ENST00000281474 T;T 0.48836 0.8;0.8 5.1 4.21 0.49690 . 0.000000 0.85682 D 0.000000 T 0.59878 0.2226 M 0.72576 2.205 0.80722 D 1 P;D 0.57257 0.902;0.979 P;P 0.60236 0.602;0.871 T 0.57734 -0.7760 10 0.23891 T 0.37 . 11.145 0.48426 0.1502:0.0:0.8498:0.0 . 395;395 F8W113;Q96G01 .;BICD1_HUMAN N 395 ENSP00000446793:K395N;ENSP00000281474:K395N ENSP00000281474:K395N K + 3 2 BICD1 32371841 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 2.007000 0.40883 1.279000 0.44446 0.655000 0.94253 AAG BICD1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403380.1 + ENST00000281474.5 Missense_Mutation SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI TRIM17 51127 broad.mit.edu 37 1 228596255 228596255 + Missense_Mutation SNP C C A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr1:228596255C>A ENST00000366697.2 - 6.0 2037 c.1081G>T c.(1081-1083)Ggg>Tgg p.G361W TRIM17_ENST00000366698.2_Missense_Mutation_p.G361W|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000295033.3_Missense_Mutation_p.G361W Q9Y577 TRI17_HUMAN tripartite motif containing 17 361.0 B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}. protein autoubiquitination (GO:0051865) intracellular (GO:0005622) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10.0 Prostate(94;0.0724) AACGCGTCCCCGGTGATGTTC 0.627 0 58.0 62.0 60.0 1 228596255.0 2203.0 4300.0 6503.0 SO:0001583 missense AF156271 CCDS1571.1, CCDS44327.1 1q42 2013-01-09 2011-01-25 2001-11-30 ENSG00000162931 ENSG00000162931 51127.0 51127.0 """Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers""" 13430.0 protein-coding gene gene with protein product """ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein""" 606123.0 """tripartite motif-containing 17""" RNF16 9792805, 10894938 Standard NM_016102 NM_016102 Approved terf, RBCC uc001hsv.3 Q9Y577 OTTHUMG00000039974 ENST00000366697.2:c.1081G>T 1.__UNKNOWN__:g.228596255C>A ENSP00000355658:p.Gly361Trp B4DVJ2|Q5VST8 __UNKNOWN__ CCDS1571.1 . . . . . . . . . . C 15.47 2.843789 0.51164 . . ENSG00000162931 ENST00000366697;ENST00000366698;ENST00000295033 T;T;T 0.64618 -0.11;-0.11;-0.11 4.71 4.71 0.59529 Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1); 0.000000 0.47455 D 0.000224 T 0.81711 0.4880 M 0.88640 2.97 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.83654 0.0157 10 0.45353 T 0.12 . 15.9788 0.80091 0.0:1.0:0.0:0.0 . 361 Q9Y577 TRI17_HUMAN W 361 ENSP00000355658:G361W;ENSP00000355659:G361W;ENSP00000295033:G361W ENSP00000295033:G361W G - 1 0 TRIM17 226662878 0.990000 0.36364 0.267000 0.24556 0.270000 0.26580 5.703000 0.68340 2.531000 0.85337 0.655000 0.94253 GGG TRIM17-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000096439.2 - ENST00000366697.2 Missense_Mutation SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI WT1 7490 broad.mit.edu 37 11 32450088 32450088 + Missense_Mutation SNP G G T TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr11:32450088G>T ENST00000379079.2 - 2.0 361 c.88C>A c.(88-90)Cac>Aac p.H30N WT1_ENST00000448076.3_Missense_Mutation_p.H242N|WT1_ENST00000332351.3_Missense_Mutation_p.H242N|WT1_ENST00000530998.1_Missense_Mutation_p.H30N NM_001198551.1 NP_001185480.1 P19544 WT1_HUMAN Wilms tumor 1 174.0 Pro-rich. adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032) cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270) p.?(1) EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533.0 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) TTGAATGAGTGGTTGGGGAAC 0.632 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome yes Rec yes """Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor""" 11 11p13 7490.0 Wilms tumour 1 gene O 1 Unknown(1) kidney(1) 96.0 72.0 80.0 11 32450088.0 2202.0 4299.0 6501.0 SO:0001583 missense Familial Cancer Database WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1 11p13 2014-09-17 ENSG00000184937 ENSG00000184937 7490.0 7490.0 """Zinc fingers, C2H2-type""" 12796.0 protein-coding gene gene with protein product 607102.0 GUD 14681303 Standard NM_000378 NM_024424 Approved WAGR, WIT-2, AWT1 uc001mtn.2 P19544 OTTHUMG00000039556 ENST00000379079.2:c.88C>A 11.__UNKNOWN__:g.32450088G>T ENSP00000368370:p.His30Asn A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5 __UNKNOWN__ CCDS55751.1 . . . . . . . . . . G 20.5 4.009035 0.75046 . . ENSG00000184937 ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076 D;D;D;D;D 0.84800 -1.9;-1.9;-1.9;-1.9;-1.9 5.45 4.47 0.54385 Wilm&apos (1);s tumour protein, N-terminal (1); 0.154686 0.41194 U 0.000932 T 0.79155 0.4398 L 0.38175 1.15 0.39790 D 0.972421 P;B;P;B;B 0.35033 0.481;0.25;0.481;0.237;0.123 B;B;B;B;B 0.37198 0.164;0.243;0.217;0.122;0.117 T 0.80603 -0.1309 10 0.56958 D 0.05 . 11.2474 0.49004 0.071:0.1282:0.8008:0.0 . 247;174;247;30;30 P19544-8;P19544;P19544-7;B3KSA5;P19544-6 .;WT1_HUMAN;.;.;. N 30;242;30;242;242 ENSP00000368370:H30N;ENSP00000331327:H242N;ENSP00000435307:H30N;ENSP00000415516:H242N;ENSP00000413452:H242N ENSP00000331327:H242N H - 1 0 WT1 32406664 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 7.153000 0.77428 2.744000 0.94065 0.561000 0.74099 CAC WT1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000095434.1 - ENST00000379079.2 Missense_Mutation SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI CDK5RAP1 51654 broad.mit.edu 37 20 31984647 31984647 + Missense_Mutation SNP G G A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr20:31984647G>A ENST00000346416.2 - 2.0 377 c.224C>T c.(223-225)cCt>cTt p.P75L CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.P75L|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000477105.1_Intron|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.P75L|CDK5RAP1_ENST00000357886.4_Missense_Mutation_p.P75L NM_001278167.1|NM_001278169.1|NM_016408.2 NP_001265096.1|NP_001265098.1|NP_057492.2 Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 75.0 CDK5 activation inhibition. brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400) cytoplasm (GO:0005737) 4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740) endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26.0 CTTCTCCTGAGGAGCTGAGGC 0.493 0 G ,LEU/PRO 0,4406 0,0,2203 130.0 130.0 130.0 ,224 5.4 1.0 20 130.0 1,8599 1.2+/-3.3 0,1,4299 no utr-5,missense CDK5RAP1 NM_016082.3,NM_016408.2 ,98 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 ,benign ,75/588 31984647.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AF152097 CCDS13219.1, CCDS63255.1 20q11.21 2012-09-20 2002-07-22 2002-07-26 ENSG00000101391 ENSG00000101391 51654.0 51654.0 15880.0 protein-coding gene gene with protein product 608200.0 """chromosome 20 open reading frame 34""" C20orf34 10721722, 11882646, 15329498 Standard NM_016408 NM_016408 Approved CGI-05, HSPC167, C42 uc002wyy.4 Q96SZ6 OTTHUMG00000032256 ENST00000346416.2:c.224C>T 20.__UNKNOWN__:g.31984647G>A ENSP00000217372:p.Pro75Leu A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0 __UNKNOWN__ CCDS13219.1 . . . . . . . . . . G 15.31 2.794781 0.50102 0.0 1.16E-4 ENSG00000101391 ENST00000346416;ENST00000357886;ENST00000339269;ENST00000544843 . . . 5.42 5.42 0.78866 . 0.483231 0.24638 N 0.036832 T 0.57519 0.2059 L 0.46157 1.445 0.58432 D 0.999995 B;B;B;B;B;B 0.30634 0.0;0.288;0.0;0.0;0.0;0.0 B;B;B;B;B;B 0.32533 0.001;0.147;0.002;0.001;0.002;0.005 T 0.56697 -0.7936 9 0.45353 T 0.12 -10.688 14.5855 0.68320 0.0:0.0:1.0:0.0 . 75;75;75;75;75;75 Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3 .;.;CK5P1_HUMAN;.;.;. L 75 . ENSP00000341840:P75L P - 2 0 CDK5RAP1 31448308 1.000000 0.71417 0.999000 0.59377 0.991000 0.79684 2.937000 0.48979 2.826000 0.97356 0.491000 0.48974 CCT CDK5RAP1-010 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078696.2 - ENST00000346416.2 Missense_Mutation SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI EPHA3 2042 broad.mit.edu 37 3 89478273 89478273 + Missense_Mutation SNP G G A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr3:89478273G>A ENST00000336596.2 + 12.0 2317 c.2092G>A c.(2092-2094)Gtc>Atc p.V698I EPHA3_ENST00000494014.1_Missense_Mutation_p.V698I NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 698.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319) early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004) 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) 139.0 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) AGTTATGATTGTCACAGAATA 0.294 TSP Lung(6;0.00050) 0 103.0 108.0 107.0 3 89478273.0 2203.0 4299.0 6502.0 SO:0001583 missense M83941 CCDS2922.1, CCDS46875.1 3p11.2 2013-02-11 2004-10-28 ENSG00000044524 ENSG00000044524 2042.0 2042.0 2.7.10.1 """EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing""" 3387.0 protein-coding gene gene with protein product 179611.0 """EphA3""" ETK, ETK1, TYRO4 1737782, 1311845 Standard NM_005233 NM_005233 Approved HEK, HEK4 uc003dqy.3 P29320 OTTHUMG00000159040 ENST00000336596.2:c.2092G>A 3.__UNKNOWN__:g.89478273G>A ENSP00000337451:p.Val698Ile Q9H2V3|Q9H2V4 __UNKNOWN__ CCDS2922.1 . . . . . . . . . . G 8.100 0.776463 0.16120 . . ENSG00000044524 ENST00000336596;ENST00000494014 D;D 0.84370 -1.84;-1.84 5.68 4.81 0.61882 Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 D 0.85383 0.5684 N 0.17345 0.48 0.80722 D 1 D 0.63046 0.992 D 0.72982 0.979 D 0.84664 0.0708 9 . . . . 15.037 0.71754 0.0685:0.0:0.9315:0.0 . 698 P29320 EPHA3_HUMAN I 698 ENSP00000337451:V698I;ENSP00000419190:V698I . V + 1 0 EPHA3 89560963 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 4.841000 0.62824 1.547000 0.49401 0.591000 0.81541 GTC EPHA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352995.1 + ENST00000336596.2 Missense_Mutation SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI COL12A1 1303 broad.mit.edu 37 6 75893251 75893251 + Missense_Mutation SNP C C A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr6:75893251C>A ENST00000322507.8 - 10.0 1715 c.1406G>T c.(1405-1407)aGt>aTt p.S469I COL12A1_ENST00000416123.2_Missense_Mutation_p.S469I|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.S469I NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 469.0 VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}. cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501) collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982) extracellular matrix structural constituent conferring tensile strength (GO:0030020) p.S469I(1) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169.0 AATTTCAAAACTTTTTACAAG 0.358 1 Substitution - Missense(1) large_intestine(1) 64.0 62.0 63.0 6 75893251.0 1821.0 4074.0 5895.0 SO:0001583 missense U73779 CCDS43481.1, CCDS43482.1 6q12-q13 2013-02-11 2003-07-24 ENSG00000111799 ENSG00000111799 1303.0 1303.0 """Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing""" 2188.0 protein-coding gene gene with protein product """collagen type XII proteoglycan""" 120320.0 """collagen, type XII, alpha 1-like""" COL12A1L 9143499 Standard NM_004370 XM_006715334 Approved uc003phs.3 Q99715 OTTHUMG00000015051 ENST00000322507.8:c.1406G>T 6.__UNKNOWN__:g.75893251C>A ENSP00000325146:p.Ser469Ile O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716 __UNKNOWN__ CCDS43482.1 . . . . . . . . . . C 20.5 4.005357 0.74932 . . ENSG00000111799 ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888 T;T;T 0.79033 -1.23;-1.23;-1.23 5.49 5.49 0.81192 von Willebrand factor, type A (3); 0.000000 0.85682 D 0.000000 D 0.82435 0.5036 M 0.64567 1.98 0.41634 D 0.989038 D;D 0.56521 0.976;0.976 P;P 0.57057 0.812;0.812 D 0.83619 0.0138 10 0.72032 D 0.01 . 19.7404 0.96228 0.0:1.0:0.0:0.0 . 469;469 D6RGG3;Q99715 .;COCA1_HUMAN I 469 ENSP00000325146:S469I;ENSP00000412864:S469I;ENSP00000421216:S469I ENSP00000325146:S469I S - 2 0 COL12A1 75949971 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 6.107000 0.71517 2.734000 0.93682 0.655000 0.94253 AGT COL12A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041249.3 - ENST00000322507.8 Missense_Mutation SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI URM1 81605 broad.mit.edu 37 9 131140374 131140374 + Missense_Mutation SNP A A T TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr9:131140374A>T ENST00000372853.4 + 2.0 157 c.95A>T c.(94-96)cAg>cTg p.Q32L URM1_ENST00000372847.1_Missense_Mutation_p.R46W|URM1_ENST00000372850.1_Missense_Mutation_p.Q32L|URM1_ENST00000452446.1_Missense_Mutation_p.Q32L|URM1_ENST00000483206.1_3'UTR NM_001265582.1|NM_030914.3 NP_001252511.1|NP_112176.1 ubiquitin related modifier 1 cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1) 5.0 TTGCCTGGACAGGAGGAACCC 0.537 0 136.0 122.0 127.0 9 131140374.0 2203.0 4300.0 6503.0 SO:0001583 missense AK097029 CCDS6900.1, CCDS48035.1, CCDS59148.1 9q34.13 2010-06-24 2010-06-24 2006-11-28 ENSG00000167118 ENSG00000167118 81605.0 81605.0 28378.0 protein-coding gene gene with protein product 612693.0 """chromosome 9 open reading frame 74"", ""ubiquitin related modifier 1 homolog (S. cerevisiae)""" C9orf74 16046629, 16864801 Standard NM_030914 NM_030914 Approved MGC2668 uc011may.2 Q9BTM9 OTTHUMG00000020742 ENST00000372853.4:c.95A>T 9.__UNKNOWN__:g.131140374A>T ENSP00000361944:p.Gln32Leu __UNKNOWN__ CCDS6900.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 12.52|12.52 1.963138|1.963138 0.34659|0.34659 .|. .|. ENSG00000167118|ENSG00000167118 ENST00000372853;ENST00000452446;ENST00000372850|ENST00000372847 .|. .|. .|. 5.33|5.33 5.33|5.33 0.75918|0.75918 Molybdopterin synthase/thiamin biosynthesis sulphur carrier, beta-grasp (1);Beta-grasp fold, ferredoxin-type (1);|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.62962|0.62962 0.2471|0.2471 L|L 0.42245|0.42245 1.32|1.32 0.58432|0.58432 D|D 0.999999|0.999999 B;B|. 0.27559|. 0.181;0.001|. B;B|. 0.19391|. 0.025;0.011|. T|T 0.66598|0.66598 -0.5883|-0.5883 9|6 0.33940|0.87932 T|D 0.23|0 -9.537|-9.537 14.4826|14.4826 0.67592|0.67592 1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0 .|. 32;32|. Q9BTM9-2;Q9BTM9|. .;URM1_HUMAN|. L|W 32|46 .|. ENSP00000361941:Q32L|ENSP00000361938:R46W Q|R +|+ 2|1 0|2 URM1|URM1 130180195|130180195 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.550000|0.550000 0.35303|0.35303 6.778000|6.778000 0.75043|0.75043 2.013000|2.013000 0.59113|0.59113 0.379000|0.379000 0.24179|0.24179 CAG|AGG URM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054422.1 + ENST00000372853.4 Missense_Mutation SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI FAT1 2195 broad.mit.edu 37 4 187521348 187521348 + Missense_Mutation SNP G G T TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr4:187521348G>T ENST00000441802.2 - 22.0 12016 c.11807C>A c.(11806-11808)aCa>aAa p.T3936K NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3936.0 Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}. actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337) cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) 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) 228.0 CCCTGGGGCTGTGCCCGATGC 0.512 HNSCC(5;0.00058) Colon(197;1040 2055 4143 4984 49344) 0 61.0 62.0 62.0 4 187521348.0 1972.0 4156.0 6128.0 SO:0001583 missense X87241 CCDS47177.1 4q35.2 2013-05-31 2013-05-31 2008-10-30 ENSG00000083857 ENSG00000083857 2195.0 2195.0 """Cadherins / Cadherin-related""" 3595.0 protein-coding gene gene with protein product """cadherin-related family member 8""" 600976.0 """FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)""" FAT 8586420 Standard NM_005245 XM_005262834 Approved CDHF7, CDHR8 uc003izf.3 Q14517 OTTHUMG00000160320 ENST00000441802.2:c.11807C>A 4.__UNKNOWN__:g.187521348G>T ENSP00000406229:p.Thr3936Lys __UNKNOWN__ CCDS47177.1 . . . . . . . . . . G 8.733 0.917136 0.17907 . . ENSG00000083857 ENST00000441802;ENST00000260147 T 0.77358 -1.09 4.94 4.94 0.65067 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1); 0.000000 0.85682 D 0.000000 T 0.75613 0.3873 N 0.25890 0.77 0.80722 D 1 D 0.64830 0.994 D 0.64687 0.928 T 0.68887 -0.5290 10 0.05959 T 0.93 . 13.0748 0.59081 0.0772:0.0:0.9228:0.0 . 3936 Q14517 FAT1_HUMAN K 3936;3938 ENSP00000406229:T3936K ENSP00000260147:T3938K T - 2 0 FAT1 187758342 1.000000 0.71417 0.999000 0.59377 0.981000 0.71138 5.161000 0.64935 2.726000 0.93360 0.655000 0.94253 ACA FAT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000360209.3 - ENST00000441802.2 Missense_Mutation SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI ABCA2 20 broad.mit.edu 37 9 139911685 139911685 + Missense_Mutation SNP G G A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr9:139911685G>A ENST00000341511.6 - 18.0 2565 c.2516C>T c.(2515-2517)gCg>gTg p.A839V ABCA2_ENST00000265662.5_Missense_Mutation_p.A839V|ABCA2_ENST00000371605.3_Missense_Mutation_p.A838V NM_001606.4|NM_212533.2 NP_001597|NP_997698.1 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 838.0 ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810) ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166) 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) 41.0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CTTATCATGCGCCACCTCCTC 0.652 0 55.0 62.0 59.0 9 139911685.0 2183.0 4267.0 6450.0 SO:0001583 missense U18235 CCDS43909.1 9q34 2012-03-14 ENSG00000107331 ENSG00000107331 20.0 20.0 """ATP binding cassette transporters / subfamily A""" 32.0 protein-coding gene gene with protein product 600047.0 ABC2 8088782 Standard NM_001606 NM_212533 Approved uc022bpy.1 Q9BZC7 OTTHUMG00000020958 ENST00000341511.6:c.2516C>T 9.__UNKNOWN__:g.139911685G>A ENSP00000344155:p.Ala839Val A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28 __UNKNOWN__ CCDS43909.1 . . . . . . . . . . G 28.5 4.925831 0.92319 . . ENSG00000107331 ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511 D;D;D 0.90004 -2.6;-2.6;-2.6 4.61 4.61 0.57282 . 0.195469 0.43579 N 0.000546 D 0.91663 0.7365 L 0.44542 1.39 0.58432 D 0.999999 D;D 0.76494 0.999;0.999 D;D 0.67382 0.951;0.94 D 0.91575 0.5274 10 0.42905 T 0.14 . 17.4162 0.87500 0.0:0.0:1.0:0.0 . 838;869 Q9BZC7;E7ETC3 ABCA2_HUMAN;. V 839;838;869;839 ENSP00000265662:A839V;ENSP00000360666:A838V;ENSP00000344155:A839V ENSP00000265662:A839V A - 2 0 ABCA2 139031506 1.000000 0.71417 1.000000 0.80357 0.861000 0.49209 7.658000 0.83755 2.116000 0.64780 0.313000 0.20887 GCG ABCA2-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000055199.2 - ENST00000341511.6 Missense_Mutation SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI R3HDML 140902 broad.mit.edu 37 20 42965958 42965958 + Missense_Mutation SNP G G A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr20:42965958G>A ENST00000217043.2 + 1.0 333 c.161G>A c.(160-162)cGg>cAg p.R54Q NM_178491.2 NP_848586.1 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like 54.0 extracellular region (GO:0005576) peptidase inhibitor activity (GO:0030414) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14) 21.0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) AGGTACCGCCGGAAGCGCCAC 0.592 0 59.0 55.0 56.0 20 42965958.0 2203.0 4300.0 6503.0 SO:0001583 missense BC107048 CCDS13329.1 20q13.12 2007-04-26 2005-09-02 ENSG00000101074 ENSG00000101074 140902.0 140902.0 16249.0 protein-coding gene gene with protein product """R3H domain (binds single-stranded nucleic acids) containing-like""" Standard NM_178491 NM_178491 Approved dJ881L22.3 uc002xls.2 Q9H3Y0 OTTHUMG00000032524 ENST00000217043.2:c.161G>A 20.__UNKNOWN__:g.42965958G>A ENSP00000217043:p.Arg54Gln __UNKNOWN__ CCDS13329.1 . . . . . . . . . . G 11.93 1.785016 0.31593 . . ENSG00000101074 ENST00000217043 T 0.09630 2.96 5.18 4.23 0.50019 CAP domain (2); 0.000000 0.85682 D 0.000000 T 0.11110 0.0271 M 0.66939 2.045 0.46823 D 0.999211 B 0.33171 0.4 B 0.20955 0.032 T 0.07578 -1.0765 10 0.12766 T 0.61 . 13.782 0.63087 0.0747:0.0:0.9253:0.0 . 54 Q9H3Y0 CRSPL_HUMAN Q 54 ENSP00000217043:R54Q ENSP00000217043:R54Q R + 2 0 R3HDML 42399372 0.893000 0.30496 0.997000 0.53966 0.204000 0.24138 1.256000 0.32921 1.181000 0.42912 0.385000 0.25706 CGG R3HDML-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079344.1 + ENST00000217043.2 Missense_Mutation SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI ATP2A1 487 broad.mit.edu 37 16 28909760 28909760 + Silent SNP C C T TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr16:28909760C>T ENST00000395503.4 + 14.0 1936 c.1752C>T c.(1750-1752)ttC>ttT p.F584F ATP2A1_ENST00000357084.3_Silent_p.F584F|ATP2A1_ENST00000536376.1_Silent_p.F459F NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 584.0 apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085) calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38.0 CTGCCAGGTTCCTGGAGTATG 0.652 0 21.0 23.0 22.0 16 28909760.0 2197.0 4300.0 6497.0 SO:0001819 synonymous_variant CCDS10643.1, CCDS42139.1, CCDS66997.1 16p12.1 2012-10-22 ENSG00000196296 ENSG00000196296 487.0 487.0 3.6.3.8 """ATPases / P-type""" 811.0 protein-coding gene gene with protein product """sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1""" 108730.0 ATP2A Standard NM_004320 NM_004320 Approved SERCA1 uc002dro.1 O14983 OTTHUMG00000131760 ENST00000395503.4:c.1752C>T 16.__UNKNOWN__:g.28909760C>T A8K5J9|B3KY17|O14984 __UNKNOWN__ CCDS42139.1 ATP2A1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254687.2 + ENST00000395503.4 Silent SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI TMEM8B 51754 broad.mit.edu 37 9 35853200 35853200 + Silent SNP C C G TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr9:35853200C>G ENST00000377991.4 + 13.0 2044 c.1029C>G c.(1027-1029)ctC>ctG p.L343L TMEM8B_ENST00000377988.2_Silent_p.L343L NM_001042589.2 NP_001036054.1 A6NDV4 TMM8B_HUMAN transmembrane protein 8B 343.0 cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 7.0 GACATGGACTCTGGAACCTGC 0.607 0 134.0 134.0 134.0 9 35853200.0 1994.0 4171.0 6165.0 SO:0001819 synonymous_variant BC043384 CCDS6595.1, CCDS43800.1 9p13.3 2009-06-12 2009-06-12 2009-06-12 ENSG00000137103 ENSG00000137103 51754.0 51754.0 21427.0 protein-coding gene gene with protein product """nasopharyngeal carcinoma expressed 6""" """chromosome 9 open reading frame 127""" C9orf127 12918109, 8619474 Standard NM_016446 NM_016446 Approved NAG-5, NGX6 uc003zym.4 A6NDV4 OTTHUMG00000019885 ENST00000377991.4:c.1029C>G 9.__UNKNOWN__:g.35853200C>G B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7 __UNKNOWN__ CCDS43800.1 TMEM8B-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052388.2 + ENST00000377991.4 Silent SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI NRROS 375387 broad.mit.edu 37 3 196387237 196387237 + Silent SNP C C T TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr3:196387237C>T ENST00000328557.4 + 3.0 926 c.723C>T c.(721-723)ttC>ttT p.F241F NM_198565.1 NP_940967.1 Q86YC3 NRROS_HUMAN negative regulator of reactive oxygen species 241.0 immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) TGGAGTGGTTCCTCGCGACCG 0.632 0 64.0 63.0 63.0 3 196387237.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AY358322 CCDS3319.1 3q29 2013-07-02 2013-07-02 2013-07-02 ENSG00000174004 ENSG00000174004 375387.0 375387.0 24613.0 protein-coding gene gene with protein product 615322.0 """leucine rich repeat containing 33""" LRRC33 12975309 Standard NM_198565 NM_198565 Approved UNQ3030, ELLP3030, MGC50789, GARPL1 uc003fwv.3 Q86YC3 OTTHUMG00000155569 ENST00000328557.4:c.723C>T 3.__UNKNOWN__:g.196387237C>T __UNKNOWN__ CCDS3319.1 NRROS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340676.1 + ENST00000328557.4 Silent SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI CNTNAP3 79937 broad.mit.edu 37 9 39118252 39118252 + Silent SNP T T C TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr9:39118252T>C ENST00000297668.6 - 14.0 2158 c.2085A>G c.(2083-2085)ggA>ggG p.G695G CNTNAP3_ENST00000358144.2_Silent_p.G607G|CNTNAP3_ENST00000323947.7_Silent_p.G601G|CNTNAP3_ENST00000377656.2_Silent_p.G694G|CNTNAP3_ENST00000377659.1_Silent_p.G694G NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 695.0 Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}. cell adhesion (GO:0007155)|cell recognition (GO:0008037) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24.0 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TCAGTGGGGTTCCATCTGAAA 0.473 0 84.0 68.0 73.0 9 39118252.0 2203.0 4298.0 6501.0 SO:0001819 synonymous_variant AF333769 CCDS6616.1 9q12 2008-02-05 ENSG00000106714 ENSG00000106714 79937.0 79937.0 13834.0 protein-coding gene gene with protein product """cell recognition molecule CASPR3 (FLJ14195, KIAA1714)""" 610517.0 12093160 Standard NM_033655 NM_033655 Approved CASPR3, KIAA1714, FLJ14195, CNTNAP3A uc004abi.3 Q9BZ76 OTTHUMG00000019954 ENST00000297668.6:c.2085A>G 9.__UNKNOWN__:g.39118252T>C B1AMA0|Q9C0E9 __UNKNOWN__ CCDS6616.1 CNTNAP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052511.1 - ENST00000297668.6 Silent SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI DUOX2 50506 broad.mit.edu 37 15 45386413 45386413 + Missense_Mutation SNP T T C TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr15:45386413T>C ENST00000389039.6 - 34.0 4967 c.4582A>G c.(4582-4584)Aag>Gag p.K1528E DUOX2_ENST00000603300.1_Missense_Mutation_p.K1528E Q9NRD8 DUOX2_HUMAN dual oxidase 2 1528.0 adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601) 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) 63.0 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) TGACAGGCCTTCTCTACATTC 0.577 0 134.0 114.0 121.0 15 45386413.0 2198.0 4298.0 6496.0 SO:0001583 missense AF181972 CCDS10117.1 15q15.3-q21 2013-01-10 ENSG00000140279 ENSG00000140279 50506.0 50506.0 """EF-hand domain containing""" 13273.0 protein-coding gene gene with protein product """dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2""" 606759.0 10601291, 10806195 Standard NM_014080 NM_014080 Approved P138-TOX, P138(TOX), THOX2, LNOX2 uc010bea.3 Q9NRD8 OTTHUMG00000131355 ENST00000389039.6:c.4582A>G 15.__UNKNOWN__:g.45386413T>C ENSP00000373691:p.Lys1528Glu A8MQ13|D2XI64|Q9NR02|Q9UHF9 __UNKNOWN__ . . . . . . . . . . T 18.57 3.652156 0.67472 . . ENSG00000140279 ENST00000389039 . . . 5.36 4.23 0.50019 Ferric reductase, NAD binding (1); 0.140709 0.64402 D 0.000006 T 0.48607 0.1509 L 0.46885 1.475 0.48040 D 0.999578 B 0.34226 0.443 B 0.36092 0.217 T 0.42899 -0.9424 9 0.39692 T 0.17 -14.282 7.7791 0.29054 0.0:0.0746:0.1389:0.7865 . 1528 Q9NRD8 DUOX2_HUMAN E 1528 . ENSP00000373691:K1528E K - 1 0 DUOX2 43173705 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 4.239000 0.58694 0.980000 0.38523 0.533000 0.62120 AAG DUOX2-001 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000254144.3 - ENST00000389039.6 Missense_Mutation SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI FOXI2 399823 broad.mit.edu 37 10 129537028 129537028 + Missense_Mutation SNP G G A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr10:129537028G>A ENST00000388920.4 + 2.0 795 c.756G>A c.(754-756)atG>atA p.M252I NM_207426.2 NP_997309.2 Q6ZQN5 FOXI2_HUMAN forkhead box I2 252.0 transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) large_intestine(1)|lung(3) 4.0 all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222) CTTCTGCTATGAGCGCTCTGG 0.711 Esophageal Squamous(54;1038 1280 2528 31583) 0 9.0 11.0 10.0 10 129537028.0 2185.0 4279.0 6464.0 SO:0001583 missense AK128865 CCDS7655.2 10q26.2 2008-04-10 ENSG00000186766 ENSG00000186766 399823.0 399823.0 """Forkhead boxes""" 32448.0 protein-coding gene gene with protein product Standard NM_207426 NM_207426 Approved FLJ46831 uc009yas.2 Q6ZQN5 OTTHUMG00000019250 ENST00000388920.4:c.756G>A 10.__UNKNOWN__:g.129537028G>A ENSP00000373572:p.Met252Ile __UNKNOWN__ CCDS7655.2 . . . . . . . . . . G 13.92 2.380882 0.42207 . . ENSG00000186766 ENST00000388920 D 0.93953 -3.32 4.15 4.15 0.48705 . 0.160883 0.52532 D 0.000065 D 0.85923 0.5810 L 0.32530 0.975 0.58432 D 0.999992 P 0.39282 0.666 B 0.26517 0.07 D 0.85115 0.0965 10 0.21540 T 0.41 . 13.9837 0.64321 0.0:0.0:1.0:0.0 . 252 Q6ZQN5 FOXI2_HUMAN I 252 ENSP00000373572:M252I ENSP00000373572:M252I M + 3 0 FOXI2 129427018 1.000000 0.71417 0.946000 0.38457 0.007000 0.05969 2.543000 0.45752 2.138000 0.66242 0.561000 0.74099 ATG FOXI2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050984.2 + ENST00000388920.4 Missense_Mutation SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI KLF12 11278 broad.mit.edu 37 13 74339086 74339086 + Silent SNP T T C TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr13:74339086T>C ENST00000377669.2 - 5.0 884 c.858A>G c.(856-858)caA>caG p.Q286Q KLF12_ENST00000377666.4_Silent_p.Q286Q NM_007249.4 NP_009180.3 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 286.0 negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16.0 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) aaggaaacttttgattattca 0.373 0 101.0 96.0 97.0 13 74339086.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AJ243274 CCDS9449.1 13q22 2013-01-08 ENSG00000118922 ENSG00000118922 11278.0 11278.0 """Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type""" 6346.0 protein-coding gene gene with protein product """KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor""" 607531.0 10704285 Standard NM_007249 NM_007249 Approved AP-2rep, HSPC122, AP2REP uc001vjf.3 Q9Y4X4 OTTHUMG00000017078 ENST00000377669.2:c.858A>G 13.__UNKNOWN__:g.74339086T>C A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0 __UNKNOWN__ CCDS9449.1 KLF12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045271.2 - ENST00000377669.2 Silent SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI MAML3 55534 broad.mit.edu 37 4 140641376 140641376 + Missense_Mutation SNP G G A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr4:140641376G>A ENST00000509479.2 - 5.0 3374 c.2518C>T c.(2518-2520)Ccc>Tcc p.P840S MGST2_ENST00000515137.1_Intron NM_018717.4 NP_061187 mastermind-like 3 (Drosophila) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25.0 all_hematologic(180;0.162) TTCTGGGAGGGTCCTATTCCC 0.592 0 166.0 170.0 169.0 4 140641376.0 2121.0 4247.0 6368.0 SO:0001583 missense AB058719 CCDS54805.1 4q31.1 2014-08-12 2003-09-24 ENSG00000196782 ENSG00000196782 55534.0 55534.0 16272.0 protein-coding gene gene with protein product """mastermind (drosophila)-like 3""" 608991.0 """trinucleotide repeat containing 3""" TNRC3 12370315, 12386158 Standard NM_018717 Approved KIAA1816, MAM2, CAGH3, GDN uc021xsg.1 Q96JK9 OTTHUMG00000161441 ENST00000509479.2:c.2518C>T 4.__UNKNOWN__:g.140641376G>A ENSP00000421180:p.Pro840Ser __UNKNOWN__ CCDS54805.1 . . . . . . . . . . G 13.40 2.227073 0.39399 . . ENSG00000196782 ENST00000509479;ENST00000538400 T 0.25414 1.8 5.81 4.97 0.65823 . 0.225469 0.38720 N 0.001597 T 0.31857 0.0810 M 0.75264 2.295 0.80722 D 1 B;B 0.22346 0.068;0.068 B;B 0.18561 0.022;0.022 T 0.07366 -1.0776 10 0.30854 T 0.27 . 16.0644 0.80861 0.0:0.2529:0.7471:0.0 . 840;836 E7EVW8;Q96JK9 .;MAML3_HUMAN S 840;147 ENSP00000421180:P840S ENSP00000421180:P840S P - 1 0 MAML3 140860826 0.998000 0.40836 0.831000 0.32960 0.287000 0.27160 2.624000 0.46444 1.442000 0.47568 -0.165000 0.13383 CCC MAML3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000364934.2 - ENST00000509479.2 Missense_Mutation SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI SHISA3 152573 broad.mit.edu 37 4 42403414 42403414 + Silent SNP C C G TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr4:42403414C>G ENST00000319234.4 + 2.0 881 c.663C>G c.(661-663)ctC>ctG p.L221L NM_001080505.1 NP_001073974.1 A0PJX4 SHSA3_HUMAN shisa family member 3 221.0 multicellular organismal development (GO:0007275) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 12.0 CTTACCCCCTCCAGCAGGAGC 0.597 0 65.0 68.0 67.0 4 42403414.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC012029 CCDS33979.1 4p13 2013-07-31 2013-07-31 ENSG00000178343 ENSG00000178343 152573.0 152573.0 """Shisa homologs""" 25159.0 protein-coding gene gene with protein product """shisa homolog 3 (Xenopus laevis)""" Standard NM_001080505 NM_001080505 Approved hShisa3 uc003gwp.3 A0PJX4 OTTHUMG00000161043 ENST00000319234.4:c.663C>G 4.__UNKNOWN__:g.42403414C>G A0PJX3|Q96EQ5 __UNKNOWN__ CCDS33979.1 SHISA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000363539.1 + ENST00000319234.4 Silent SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI CECR5 27440 broad.mit.edu 37 22 17619599 17619599 + Missense_Mutation SNP A A G TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr22:17619599A>G ENST00000399852.3 - 4.0 339 CECR5_ENST00000155674.5_Missense_Mutation_p.L229P|CECR5_ENST00000336737.4_Missense_Mutation_p.L259P Q9BXW7 CECR5_HUMAN cat eye syndrome chromosome region, candidate 5 mitochondrion (GO:0005739) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1) 21.0 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) AATGGTTTCCAGGCACAGCAG 0.542 0 160.0 150.0 153.0 22 17619599.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AF273270 CCDS13741.1, CCDS33595.1 22q11.2 2008-06-12 ENSG00000069998 ENSG00000069998 27440.0 27440.0 1843.0 protein-coding gene gene with protein product 11381032 Standard NM_017829 NM_017829 Approved uc002zmf.3 Q9BXW7 OTTHUMG00000150071 ENST00000399852.3:c.336-352T>C 22.__UNKNOWN__:g.17619599A>G B2RCK5|Q9BXW8|Q9NWA8|Q9NX41 __UNKNOWN__ . . . . . . . . . . A 23.7 4.443857 0.83993 . . ENSG00000069998 ENST00000155674;ENST00000336737 T;T 0.35605 1.3;1.3 4.73 4.73 0.59995 HAD-like domain (1); 0.000000 0.64402 D 0.000001 T 0.68906 0.3052 M 0.93420 3.415 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.87578 0.998;0.996;0.998 T 0.78625 -0.2131 10 0.87932 D 0 -18.2214 14.3822 0.66919 1.0:0.0:0.0:0.0 . 229;259;123 Q9BXW7-2;Q9BXW7;B3KVW8 .;CECR5_HUMAN;. P 229;259 ENSP00000155674:L229P;ENSP00000337358:L259P ENSP00000155674:L229P L - 2 0 CECR5 15999599 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 8.694000 0.91293 1.984000 0.57885 0.448000 0.29417 CTG CECR5-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000316101.1 - ENST00000399852.3 Intron SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI KLHL36 79786 broad.mit.edu 37 16 84693464 84693464 + Silent SNP T T A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr16:84693464T>A ENST00000564996.1 + 4.0 1377 c.1236T>A c.(1234-1236)tcT>tcA p.S412S KLHL36_ENST00000258157.5_Intron NM_024731.2 NP_079007.2 Q8N4N3 KLH36_HUMAN kelch-like family member 36 412.0 protein ubiquitination (GO:0016567) endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13.0 GAGCGCTCTCTTCAGTAGAGA 0.572 0 107.0 98.0 101.0 16 84693464.0 2199.0 4300.0 6499.0 SO:0001819 synonymous_variant AK022605 CCDS10948.1 16q24.1 2013-02-22 2013-02-22 2008-07-07 ENSG00000135686 ENSG00000135686 79786.0 79786.0 """Kelch-like"", ""BTB/POZ domain containing""" 17844.0 protein-coding gene gene with protein product """chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)""" C16orf44 Standard NM_024731 Approved FLJ12543 uc002fig.3 Q8N4N3 OTTHUMG00000137642 ENST00000564996.1:c.1236T>A 16.__UNKNOWN__:g.84693464T>A Q8N5G6|Q9H9U6 __UNKNOWN__ CCDS10948.1 KLHL36-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269084.2 + ENST00000564996.1 Silent SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI DVL2 1856 broad.mit.edu 37 17 7129360 7129360 + Missense_Mutation SNP G G A rs147610025 TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr17:7129360G>A ENST00000005340.5 - 15.0 2317 c.2035C>T c.(2035-2037)Ccc>Tcc p.P679S DVL2_ENST00000575458.1_Missense_Mutation_p.P673S NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 679.0 canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) frizzled binding (GO:0005109)|identical protein binding (GO:0042802) breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25.0 ACCATCATGGGGTTGTAGGGG 0.672 0 G SER/PRO 0,4406 0,0,2203 35.0 41.0 39.0 2035 5.2 1.0 17 dbSNP_134 39.0 1,8597 1.2+/-3.3 0,1,4298 yes missense DVL2 NM_004422.2 74 0,1,6501 AA,AG,GG 0.0116,0.0,0.0077 possibly-damaging 679/737 7129360.0 1,13003 2203.0 4299.0 6502.0 SO:0001583 missense BC014844 CCDS11091.1 17p13.1 2013-05-22 2013-05-22 ENSG00000004975 ENSG00000004975 1856.0 1856.0 """Dishevelled homologs""" 3086.0 protein-coding gene gene with protein product 602151.0 """dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)""" 8662242 Standard NM_004422 NM_004422 Approved uc002gez.1 O14641 OTTHUMG00000102155 ENST00000005340.5:c.2035C>T 17.__UNKNOWN__:g.7129360G>A ENSP00000005340:p.Pro679Ser D3DTN3|Q53XM0 __UNKNOWN__ CCDS11091.1 . . . . . . . . . . G 15.46 2.839855 0.51057 0.0 1.16E-4 ENSG00000004975 ENST00000005340 T 0.04360 3.64 5.21 5.21 0.72293 Dishevelled C-terminal (1); 0.255835 0.37669 N 0.001986 T 0.10766 0.0263 M 0.77103 2.36 0.58432 D 0.999994 P;P 0.42078 0.77;0.77 B;B 0.42163 0.378;0.378 T 0.10870 -1.0611 10 0.25106 T 0.35 -19.3798 16.2909 0.82752 0.0:0.0:1.0:0.0 . 673;679 B4DLQ0;O14641 .;DVL2_HUMAN S 679 ENSP00000005340:P679S ENSP00000005340:P679S P - 1 0 DVL2 7070084 1.000000 0.71417 0.997000 0.53966 0.974000 0.67602 7.381000 0.79718 2.712000 0.92718 0.561000 0.74099 CCC DVL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000219999.2 - ENST00000005340.5 Missense_Mutation SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI HSPA1L 0 broad.mit.edu 37 6 31777995 31777995 + Silent SNP G G A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr6:31777995G>A ENST00000375654.4 - 2.0 1944 c.1755C>T c.(1753-1755)gtC>gtT p.V585V HSPA1L_ENST00000417199.3_Silent_p.V585V NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 585.0 binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986) blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199) ATP binding (GO:0005524)|unfolded protein binding (GO:0051082) breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34.0 CCAGTTGATTGACCTCCAGCC 0.408 0 116.0 110.0 112.0 6 31777995.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D85730 CCDS34413.1 6p21.3 2014-01-21 2002-08-29 ENSG00000204390 ENSG00000204390 3305.0 3305.0 """Heat shock proteins / HSP70""" 5234.0 protein-coding gene gene with protein product 140559.0 """heat shock 70kD protein-like 1""" 9685725, 9349405 Standard NM_005527 Approved HSP70-HOM, hum70t uc003nxh.3 P34931 OTTHUMG00000031208 ENST00000375654.4:c.1755C>T 6.__UNKNOWN__:g.31777995G>A A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1 __UNKNOWN__ CCDS34413.1 HSPA1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076416.2 - ENST00000375654.4 Silent SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI ATRX 546 broad.mit.edu 37 X 76937831 76937834 + Frame_Shift_Del DEL GGTC GGTC - TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chrX:76937831_76937834delGGTC ENST00000373344.5 - 9.0 3128_3131 c.2914_2917delGACC c.(2914-2919)gaccagfs p.DQ972fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.DQ934fs NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 972.0 ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270) 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) 145.0 TCATCGCTCTGGTCTTTCTTTAGG 0.328 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome Rec yes X Xq21.1 546.0 alpha thalassemia/mental retardation syndrome X-linked yes E 1 Unknown(1) bone(1) SO:0001589 frameshift_variant U72937 CCDS14434.1, CCDS14435.1 Xq21.1 2014-06-17 2010-06-24 ENSG00000085224 ENSG00000085224 546.0 546.0 886.0 protein-coding gene gene with protein product """RAD54 homolog (S. cerevisiae)""" 300032.0 """alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome""" RAD54, JMS 7874112, 1415255, 8503439, 8630485 Standard NM_000489 NM_000489 Approved XH2, XNP uc004ecp.4 P46100 OTTHUMG00000022686 ENST00000373344.5:c.2914_2917delGACC X.__UNKNOWN__:g.76937831_76937834delGGTC ENSP00000362441:p.Asp972fs D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3 __UNKNOWN__ CCDS14434.1 ATRX-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000058860.2 - ENST00000373344.5 Frame_Shift_Del DEL PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI PAPOLA 10914 broad.mit.edu 37 14 97022548 97022548 + Frame_Shift_Del DEL A A - TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr14:97022548delA ENST00000392990.2 + 19.0 1837 c.1802delA c.(1801-1803)caafs p.Q601fs PAPOLA_ENST00000216277.8_Frame_Shift_Del_p.Q601fs P51003 PAPOA_HUMAN poly(A) polymerase alpha 601.0 Ser/Thr-rich. gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723) breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21.0 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) ACTGCCACACAACCAGCCATT 0.408 NSCLC(19;254 734 11908 35501 39234) 0 156.0 142.0 147.0 14 97022548.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant X76770 CCDS9946.1, CCDS58334.1, CCDS58335.1 14q32.1-q32.2 2008-02-08 ENSG00000090060 10914.0 10914.0 2.7.7.19 14981.0 protein-coding gene gene with protein product 605553.0 8302877, 10429366 Standard NM_032632 Approved PAP uc001yfq.3 P51003 ENST00000392990.2:c.1802delA 14.__UNKNOWN__:g.97022548delA ENSP00000376716:p.Gln601fs Q86SX4|Q86TV0|Q8IYF5|Q9BVU2 __UNKNOWN__ PAPOLA-005 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000413479.1 + ENST00000392990.2 Frame_Shift_Del DEL PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI SOHLH1 402381 broad.mit.edu 37 9 138586951 138586951 + Frame_Shift_Del DEL C C - TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr9:138586951delC ENST00000298466.5 - 6.0 880 c.820delG c.(820-822)gctfs p.A275fs SOHLH1_ENST00000425225.1_Frame_Shift_Del_p.A275fs NM_001012415.2 NP_001012415 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic helix-loop-helix 1 275.0 oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1) 12.0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) AGAGGTGCAGCCCCCATGGCC 0.711 0 10.0 10.0 10.0 9 138586951.0 2158.0 4234.0 6392.0 SO:0001589 frameshift_variant BC031861 CCDS35174.1, CCDS48054.1 9q34.3 2013-05-21 2006-03-16 2006-03-16 ENSG00000165643 ENSG00000165643 402381.0 402381.0 """Basic helix-loop-helix proteins""" 27845.0 protein-coding gene gene with protein product """spermatogenesis associated 27""" 610224.0 """chromosome 9 open reading frame 157""" C9orf157 12477932 Standard NM_001012415 NM_001012415 Approved NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27 uc010nbe.3 Q5JUK2 OTTHUMG00000020915 ENST00000298466.5:c.820delG 9.__UNKNOWN__:g.138586951delC ENSP00000298466:p.Ala275fs C9JG81|Q5EE14|Q5EGC2|Q8NEE3 __UNKNOWN__ CCDS35174.1 SOHLH1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000055018.2 - ENST00000298466.5 Frame_Shift_Del DEL PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI RPS6KA6 27330 ucsc.edu 37 X 83403105 83403105 + Silent SNP A A T TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 A A Unknown Untested Somatic WXS none Illumina HiSeq ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chrX:83403105A>T ENST00000262752.2 - 4.0 292 c.285T>A c.(283-285)ggT>ggA p.G95G RPS6KA6_ENST00000543399.1_Silent_p.G95G NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 95.0 Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}. axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268) cytosol (GO:0005829)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) 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) 46.0 CAGCATCAGGACCGGTCTTCT 0.313 0 40.0 37.0 38.0 X 83403105.0 2202.0 4295.0 6497.0 SO:0001819 synonymous_variant AF184965 CCDS14451.1 Xq21.1 2011-04-05 2002-08-29 ENSG00000072133 ENSG00000072133 27330.0 27330.0 10435.0 protein-coding gene gene with protein product 300303 """ribosomal protein S6 kinase, 90kD, polypeptide 6""" 10644430 Standard NM_014496 NM_014496 Approved RSK4 uc004eej.2 Q9UK32 OTTHUMG00000021923 ENST00000262752.2:c.285T>A X.__UNKNOWN__:g.83403105A>T B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6 __UNKNOWN__ CCDS14451.1 RPS6KA6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057372.1 - ENST00000262752.2 Silent SNP PCPG-TCGA-RW-A8AZ-Normal-SM-5EQHI ARL13B 200894 broad.mit.edu 37 3 93714764 93714764 + Missense_Mutation SNP G G A rs139780924 by1000genomes TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr3:93714764G>A ENST00000394222.3 + 2.0 381 c.106G>A c.(106-108)Gca>Aca p.A36T ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000471138.1_Missense_Mutation_p.A36T|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000486562.1_3'UTR NM_001174150.1 NP_001167621.1 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 13B 36.0 cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224) ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372) GTP binding (GO:0005525) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2) 10.0 TGGTAAAACCGCAACAGCAAA 0.299 G 2.0 0.0009 0.0041 2184.0 1.0 , , 0.0003 0.0009 0.9768 LOWCOV,EXOME 0.0009 SNP 0 G THR/ALA,,,THR/ALA 3,4403 6.2+/-15.9 0,3,2200 64.0 70.0 68.0 106,,,106 4.8 1.0 3 dbSNP_134 68.0 0,8600 0,0,4300 yes missense,intron,intron,missense ARL13B NM_001174150.1,NM_001174151.1,NM_144996.3,NM_182896.2 58,,,58 0,3,6500 AA,AG,GG 0.0,0.0681,0.0231 possibly-damaging,,,possibly-damaging 36/429,,,36/429 93714764.0 3,13003 2203.0 4300.0 6503.0 SO:0001583 missense AL713789 CCDS2924.1, CCDS2925.1, CCDS54615.1 3q11 2014-05-09 2005-11-18 2005-11-18 ENSG00000169379 ENSG00000169379 200894.0 200894.0 """ADP-ribosylation factors-like"", ""ADP-ribosylation factors""" 25419.0 protein-coding gene gene with protein product 608922.0 """ADP-ribosylation factor-like 2-like 1""" ARL2L1 15314642, 18674751 Standard NM_182896 NR_033427 Approved DKFZp761H079, JBTS8 uc003drf.3 Q3SXY8 OTTHUMG00000159012 ENST00000394222.3:c.106G>A 3.__UNKNOWN__:g.93714764G>A ENSP00000377769:p.Ala36Thr D3DN29|G3V1S8|Q504W8|Q8TCL5 __UNKNOWN__ CCDS2925.1 2 9.157509157509158E-4 2 0.0040650406504065045 0 0.0 0 0.0 0 0.0 G 21.1 4.103257 0.76983 6.81E-4 0.0 ENSG00000169379 ENST00000478400;ENST00000394222;ENST00000471138 T;T 0.43688 0.94;0.94 5.64 4.76 0.60689 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 T 0.14700 0.0355 N 0.00219 -1.825 0.80722 D 1 B 0.31730 0.337 B 0.35312 0.2 T 0.38394 -0.9663 10 0.44086 T 0.13 -5.5594 14.9687 0.71217 0.0699:0.0:0.9301:0.0 . 36 Q3SXY8 AR13B_HUMAN T 11;36;36 ENSP00000377769:A36T;ENSP00000420780:A36T ENSP00000335400:A36T A + 1 0 ARL13B 95197454 1.000000 0.71417 0.987000 0.45799 0.865000 0.49528 6.751000 0.74893 2.660000 0.90430 0.655000 0.94253 GCA ARL13B-005 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352904.1 + ENST00000394222.3 Missense_Mutation SNP PCPG-TCGA-RX-A8JQ-Normal-SM-5EQGV ALOX15B 247 broad.mit.edu 37 17 7948675 7948675 + Silent SNP C C T TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr17:7948675C>T ENST00000572022.1 + 7.0 1091 c.969C>T c.(967-969)tgC>tgT p.C323C ALOX15B_ENST00000380183.4_Silent_p.C323C|ALOX15B_ENST00000573359.1_Silent_p.C323C|ALOX15B_ENST00000380173.2_Silent_p.C323C O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 323.0 Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}. apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289) 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) 24.0 GCCCAGGCTGCGGGCCGCTGC 0.592 0 C ,, 3,4403 6.2+/-15.9 0,3,2200 35.0 39.0 38.0 969,969,969 -4.7 0.0 17 38.0 0,8600 0,0,4300 no coding-synonymous,coding-synonymous,coding-synonymous ALOX15B NM_001039130.1,NM_001039131.1,NM_001141.2 ,, 0,3,6500 TT,TC,CC 0.0,0.0681,0.0231 ,, 323/648,323/603,323/677 7948675.0 3,13003 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U78294 CCDS11128.1, CCDS32558.1, CCDS32559.1 17p13.1 2013-03-20 2006-01-16 ENSG00000179593 ENSG00000179593 247.0 247.0 1.13.11.33 """Arachidonate lipoxygenases""" 434.0 protein-coding gene gene with protein product 603697.0 """arachidonate 15-lipoxygenase, second type""" 9177185 Standard NM_001039130 Approved 15-LOX-2 uc002gju.3 O15296 OTTHUMG00000108181 ENST00000572022.1:c.969C>T 17.__UNKNOWN__:g.7948675C>T D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4 __UNKNOWN__ ALOX15B-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000441172.1 + ENST00000572022.1 Silent SNP PCPG-TCGA-RX-A8JQ-Normal-SM-5EQGV PRAME 23532 broad.mit.edu 37 22 22893373 22893373 + Missense_Mutation SNP G G A TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr22:22893373G>A ENST00000398741.1 - 4.0 466 c.160C>T c.(160-162)Ccg>Tcg p.P54S PRAME_ENST00000405655.3_Missense_Mutation_p.P54S|PRAME_ENST00000406503.1_Missense_Mutation_p.P54S|PRAME_ENST00000424204.2_Missense_Mutation_p.P38S|PRAME_ENST00000398743.2_Missense_Mutation_p.P54S|PRAME_ENST00000543184.1_Missense_Mutation_p.P54S|PRAME_ENST00000402697.1_Missense_Mutation_p.P54S|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000539862.1_Missense_Mutation_p.P38S NM_206955.1 NP_996838.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 54.0 apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|plasma membrane (GO:0005886) retinoic acid receptor binding (GO:0042974) autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36.0 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) AAGAGTGGCGGGAAGAGCTCC 0.637 Melanoma(73;1707 1838 15168 27201) 0 80.0 81.0 81.0 22 22893373.0 2203.0 4300.0 6503.0 SO:0001583 missense U65011 CCDS13801.1 22q11.22 2013-01-17 ENSG00000185686 ENSG00000185686 23532.0 23532.0 """-""" 9336.0 protein-coding gene gene with protein product """cancer/testis antigen 130""" 606021.0 MAPE 9047241, 10591208 Standard NM_206953 XM_006725402 Approved CT130 uc002zwj.3 P78395 OTTHUMG00000151172 ENST00000398741.1:c.160C>T 22.__UNKNOWN__:g.22893373G>A ENSP00000381726:p.Pro54Ser B2R6Y7|O43481|Q8IXN8 __UNKNOWN__ CCDS13801.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. g|g 18.88|18.88 3.718417|3.718417 0.68844|0.68844 .|. .|. ENSG00000185686|ENSG00000185686 ENST00000438888|ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204;ENST00000439106;ENST00000420709;ENST00000406503;ENST00000403441 .|T;T;T;T;T;T;T;T;T;T;T .|0.06528 .|3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29 3.36|3.36 3.36|3.36 0.38483|0.38483 .|. 0.254754|0.254754 0.32416|0.32416 N|N 0.006139|0.006139 T|T 0.30916|0.30916 0.0780|0.0780 M|M 0.92367|0.92367 3.3|3.3 0.30304|0.30304 N|N 0.78915|0.78915 .|D .|0.89917 .|1.0 .|D .|0.81914 .|0.995 T|T 0.38866|0.38866 -0.9641|-0.9641 6|10 .|0.87932 .|D .|0 .|. 13.0043|13.0043 0.58694|0.58694 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. .|54 .|P78395 .|PRAME_HUMAN L|S 77|54;54;54;54;38;54;38;54;54;54;54 .|ENSP00000381728:P54S;ENSP00000445675:P54S;ENSP00000381726:P54S;ENSP00000384343:P54S;ENSP00000445097:P38S;ENSP00000385198:P54S;ENSP00000407342:P38S;ENSP00000407320:P54S;ENSP00000412318:P54S;ENSP00000384058:P54S;ENSP00000385091:P54S .|ENSP00000381726:P54S P|P -|- 2|1 0|0 PRAME|PRAME 21223373|21223373 1.000000|1.000000 0.71417|0.71417 0.988000|0.988000 0.46212|0.46212 0.656000|0.656000 0.38851|0.38851 3.789000|3.789000 0.55454|0.55454 2.179000|2.179000 0.69175|0.69175 0.655000|0.655000 0.94253|0.94253 CCC|CCG PRAME-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000321644.1 - ENST00000398741.1 Missense_Mutation SNP PCPG-TCGA-RX-A8JQ-Normal-SM-5EQGV FFAR2 2867 broad.mit.edu 37 19 35940863 35940863 + Missense_Mutation SNP G G A TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr19:35940863G>A ENST00000599180.2 + 2.0 327 c.247G>A c.(247-249)Gcc>Acc p.A83T FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.A83T O15552 FFAR2_HUMAN free fatty acid receptor 2 83.0 cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276) cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22.0 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) GGTCGTCTGCGCCCTCACGAG 0.627 GBM(40;139 809 9833 23358 48736) 0 57.0 46.0 50.0 19 35940863.0 2203.0 4300.0 6503.0 SO:0001583 missense AF024690 CCDS12461.1 19q13.1 2012-08-08 2006-02-15 2006-02-15 ENSG00000126262 2867.0 2867.0 """GPCR / Class A : Fatty acid receptors""" 4501.0 protein-coding gene gene with protein product 603823.0 """G protein-coupled receptor 43""" GPR43 9344866 Standard NM_005306 NM_005306 Approved FFA2R uc010eea.3 O15552 ENST00000599180.2:c.247G>A 19.__UNKNOWN__:g.35940863G>A ENSP00000473159:p.Ala83Thr B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5 __UNKNOWN__ CCDS12461.1 . . . . . . . . . . G 16.39 3.108553 0.56291 . . ENSG00000126262 ENST00000246549 T 0.72167 -0.63 5.58 5.58 0.84498 GPCR, rhodopsin-like superfamily (1); 0.052849 0.85682 D 0.000000 T 0.78553 0.4301 M 0.68317 2.08 0.37046 D 0.897381 D 0.67145 0.996 P 0.58520 0.84 T 0.80226 -0.1470 10 0.38643 T 0.18 -36.7869 13.0793 0.59104 0.0:0.1612:0.8388:0.0 . 83 O15552 FFAR2_HUMAN T 83 ENSP00000246549:A83T ENSP00000246549:A83T A + 1 0 FFAR2 40632703 0.411000 0.25384 0.090000 0.20809 0.009000 0.06853 1.997000 0.40786 2.797000 0.96272 0.561000 0.74099 GCC FFAR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466120.3 + ENST00000599180.2 Missense_Mutation SNP PCPG-TCGA-RX-A8JQ-Normal-SM-5EQGV DNAH7 56171 broad.mit.edu 37 2 196737103 196737103 + Missense_Mutation SNP C C G TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr2:196737103C>G ENST00000312428.6 - 40.0 6604 c.6504G>C c.(6502-6504)ttG>ttC p.L2168F NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2168.0 AAA 3. {ECO:0000250}. cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152) axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777) 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) 205.0 CTGGAGTAGGCAAGAGATTCT 0.368 0 180.0 165.0 170.0 2 196737103.0 1860.0 4104.0 5964.0 SO:0001583 missense AF327442 CCDS42794.1 2q33.1 2013-01-10 2006-09-04 ENSG00000118997 ENSG00000118997 56171.0 56171.0 """Axonemal dyneins"", ""EF-hand domain containing""" 18661.0 protein-coding gene gene with protein product 610061.0 """dynein, axonemal, heavy polypeptide 7""" 9373155, 11877439 Standard NM_018897 NM_018897 Approved KIAA0944 uc002utj.4 Q8WXX0 OTTHUMG00000154438 ENST00000312428.6:c.6504G>C 2.__UNKNOWN__:g.196737103C>G ENSP00000311273:p.Leu2168Phe B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3 __UNKNOWN__ CCDS42794.1 . . . . . . . . . . C 16.49 3.136682 0.56936 . . ENSG00000118997 ENST00000312428 T 0.52754 0.65 4.53 2.68 0.31781 . 0.000000 0.64402 D 0.000003 T 0.73257 0.3564 H 0.97682 4.055 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.72950 -0.4136 10 0.87932 D 0 . 2.9171 0.05756 0.2578:0.4425:0.0:0.2997 . 2168 Q8WXX0 DYH7_HUMAN F 2168 ENSP00000311273:L2168F ENSP00000311273:L2168F L - 3 2 DNAH7 196445348 0.247000 0.23920 1.000000 0.80357 0.944000 0.59088 -0.401000 0.07232 1.227000 0.43598 0.650000 0.86243 TTG DNAH7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335202.3 - ENST00000312428.6 Missense_Mutation SNP PCPG-TCGA-RX-A8JQ-Normal-SM-5EQGV PARD3 56288 broad.mit.edu 37 10 34985327 34985327 + Silent SNP C C T TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr10:34985327C>T ENST00000374789.3 - 2.0 466 c.141G>A c.(139-141)caG>caA p.Q47Q PARD3_ENST00000545693.1_Silent_p.Q47Q|PARD3_ENST00000374776.1_Silent_p.Q47Q|PARD3_ENST00000374788.3_Silent_p.Q47Q|PARD3_ENST00000374790.3_Silent_p.Q47Q|PARD3_ENST00000346874.4_Silent_p.Q47Q|PARD3_ENST00000374773.1_Silent_p.Q47Q|PARD3_ENST00000545260.1_Silent_p.Q47Q|PARD3_ENST00000374794.3_Silent_p.Q47Q|PARD3_ENST00000350537.4_Silent_p.Q47Q|PARD3_ENST00000340077.5_Silent_p.Q47Q NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 47.0 apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319) apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923) phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) 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) 63.0 Breast(68;0.0707) AGCGATGCACCTGTATCCAGT 0.413 0 284.0 240.0 255.0 10 34985327.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF252293 CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1 10p11.22 2014-06-13 2013-08-28 ENSG00000148498 ENSG00000148498 56288.0 56288.0 16051.0 protein-coding gene gene with protein product """atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118""" 606745.0 """par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)""" 10934474 Standard NM_019619 NM_001184790 Approved PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118 uc010qej.2 Q8TEW0 OTTHUMG00000017948 ENST00000374789.3:c.141G>A 10.__UNKNOWN__:g.34985327C>T F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6 __UNKNOWN__ CCDS7178.1 PARD3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000047527.1 - ENST00000374789.3 Silent SNP PCPG-TCGA-RX-A8JQ-Normal-SM-5EQGV TRMT1L 81627 broad.mit.edu 37 1 185108572 185108572 + Missense_Mutation SNP A A G TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr1:185108572A>G ENST00000367506.5 - 9.0 1517 c.1249T>C c.(1249-1251)Tac>Cac p.Y417H TRMT1L_ENST00000367504.3_Missense_Mutation_p.Y261H NM_001202423.1|NM_030934.4 NP_001189352.1|NP_112196.3 Q7Z2T5 TRM1L_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae)-like 417.0 Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}. adult locomotory behavior (GO:0008344) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 21.0 TTACATCCGTAGTGACGCCGG 0.428 0 83.0 76.0 78.0 1 185108572.0 2203.0 4300.0 6503.0 SO:0001583 missense AF288399 CCDS1366.1 1q25.2 2012-06-29 2012-06-29 2011-01-24 ENSG00000121486 ENSG00000121486 81627.0 81627.0 16782.0 protein-coding gene gene with protein product """TRM1-like""" 611673.0 """chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like""" C1orf25 11318611, 17198746 Standard NM_030934 NM_030934 Approved uc001grf.4 Q7Z2T5 OTTHUMG00000035389 ENST00000367506.5:c.1249T>C 1.__UNKNOWN__:g.185108572A>G ENSP00000356476:p.Tyr417His Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1 __UNKNOWN__ CCDS1366.1 . . . . . . . . . . A 27.4 4.830002 0.91036 . . ENSG00000121486 ENST00000367504;ENST00000367506;ENST00000458395 . . . 5.94 5.94 0.96194 . 0.000000 0.85682 D 0.000000 D 0.84370 0.5457 M 0.87827 2.91 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.87098 0.2177 9 0.87932 D 0 -17.258 16.3947 0.83586 1.0:0.0:0.0:0.0 . 417 Q7Z2T5 TRM1L_HUMAN H 261;417;41 . ENSP00000356474:Y261H Y - 1 0 TRMT1L 183375195 1.000000 0.71417 0.998000 0.56505 0.986000 0.74619 9.027000 0.93706 2.272000 0.75746 0.459000 0.35465 TAC TRMT1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000085787.1 - ENST00000367506.5 Missense_Mutation SNP PCPG-TCGA-RX-A8JQ-Normal-SM-5EQGV BRAF 673 broad.mit.edu 37 7 140481402 140481402 + Missense_Mutation SNP C C G rs121913358 TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr7:140481402C>G ENST00000288602.6 - 11.0 1466 c.1406G>C c.(1405-1407)gGa>gCa p.G469A NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN B-Raf proto-oncogene, serine/threonine kinase 469.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:14612909, ECO:0000269|PubMed:17344846}.|G -> E (in CFC1 and colon cancer). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:19206169}.|G -> R (in NHL). {ECO:0000269|PubMed:14612909}.|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}. activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5) 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) 27380.0 Melanoma(164;0.00956) Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881) GTAGACTGTTCCAAATGATCC 0.373 G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG) 61.0 """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 Colon(40;35 892 2973 5743 27438) Dom yes 7 7q34 673.0 v-raf murine sarcoma viral oncogene homolog B1 yes E 42 Substitution - Missense(42) lung(13)|large_intestine(9)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|biliary_tract(2)|NS(2)|upper_aerodigestive_tract(1)|cervix(1)|small_intestine(1)|oesophagus(1) GRCh37 CM060876 BRAF M rs121913355 174.0 149.0 158.0 7 140481402.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database CFC, CFCS M95712 CCDS5863.1 7q34 2014-09-17 2014-06-26 ENSG00000157764 ENSG00000157764 673.0 673.0 1097.0 protein-coding gene gene with protein product 164757.0 """v-raf murine sarcoma viral oncogene homolog B""" 2284096, 1565476 Standard NM_004333 NM_004333 Approved BRAF1 uc003vwc.4 P15056 OTTHUMG00000157457 ENST00000288602.6:c.1406G>C 7.__UNKNOWN__:g.140481402C>G ENSP00000288602:p.Gly469Ala A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3 __UNKNOWN__ CCDS5863.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 31|31 5.088365|5.088365 0.94100|0.94100 .|. .|. ENSG00000157764|ENSG00000157764 ENST00000496384|ENST00000288602 .|D .|0.89415 .|-2.51 5.62|5.62 5.62|5.62 0.85841|0.85841 .|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); .|0.000000 .|0.85682 .|D .|0.000000 D|D 0.92008|0.92008 0.7468|0.7468 L|L 0.54323|0.54323 1.7|1.7 0.80722|0.80722 D|D 1|1 .|D .|0.59357 .|0.985 .|P .|0.58210 .|0.835 D|D 0.92595|0.92595 0.6086|0.6086 5|10 .|0.87932 .|D .|0 .|. 17.8428|17.8428 0.88720|0.88720 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|469 .|P15056 .|BRAF_HUMAN Q|A 77|469 .|ENSP00000288602:G469A .|ENSP00000288602:G469A E|G -|- 1|2 0|0 BRAF|BRAF 140127871|140127871 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.993000|0.993000 0.82548|0.82548 7.818000|7.818000 0.86416|0.86416 2.637000|2.637000 0.89404|0.89404 0.585000|0.585000 0.79938|0.79938 GAA|GGA BRAF-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000348886.1 - ENST00000288602.6 Missense_Mutation SNP PCPG-TCGA-RX-A8JQ-Normal-SM-5EQGV GNA11 2767 broad.mit.edu 37 19 3115013 3115013 + Missense_Mutation SNP G G A TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr19:3115013G>A ENST00000078429.4 + 4.0 790 c.548G>A c.(547-549)cGc>cAc p.R183H NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 183.0 action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826) p.R183H(1) endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161.0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) CTGCGGGTCCGCGTGCCCACC 0.672 Mis uveal melanoma Dom yes 19 19p13.3 2767.0 """guanine nucleotide binding protein (G protein), alpha 11 (Gq class)""" E 1 Substitution - Missense(1) skin(1) 107.0 98.0 101.0 19 3115013.0 2203.0 4300.0 6503.0 SO:0001583 missense AF493900 CCDS12103.1 19p13.3 2014-02-04 ENSG00000088256 ENSG00000088256 2767.0 2767.0 4379.0 protein-coding gene gene with protein product 139313.0 """hypocalciuric hypercalcemia 2""" HHC2 1302014, 23802516 Standard NM_002067 NM_002067 Approved FBH, FBH2, FHH2 uc002lxd.3 P29992 OTTHUMG00000180631 ENST00000078429.4:c.548G>A 19.__UNKNOWN__:g.3115013G>A ENSP00000078429:p.Arg183His O15109|Q14350|Q6IB00 __UNKNOWN__ CCDS12103.1 . . . . . . . . . . . 32 5.174266 0.94807 . . ENSG00000088256 ENST00000078429 D 0.92048 -2.96 3.92 3.92 0.45320 G protein alpha subunit, helical insertion (1); 0.000000 0.64402 D 0.000007 D 0.97514 0.9186 H 0.98178 4.165 0.58432 D 0.999999 D 0.89917 1.0 D 0.91635 0.999 D 0.98897 1.0775 10 0.87932 D 0 . 14.5421 0.68002 0.0:0.0:1.0:0.0 . 183 P29992 GNA11_HUMAN H 183 ENSP00000078429:R183H ENSP00000078429:R183H R + 2 0 GNA11 3066013 1.000000 0.71417 0.984000 0.44739 0.993000 0.82548 9.681000 0.98653 1.752000 0.51891 0.556000 0.70494 CGC GNA11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452261.2 + ENST00000078429.4 Missense_Mutation SNP PCPG-TCGA-RX-A8JQ-Normal-SM-5EQGV IKZF3 22806 broad.mit.edu 37 17 37922252 37922252 + Missense_Mutation SNP C C T TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr17:37922252C>T ENST00000346872.3 - 8.0 1382 c.1321G>A c.(1321-1323)Gtg>Atg p.V441M IKZF3_ENST00000377958.2_Missense_Mutation_p.V354M|IKZF3_ENST00000351680.3_Missense_Mutation_p.V402M|IKZF3_ENST00000377952.2_Missense_Mutation_p.V220M|IKZF3_ENST00000535189.1_Missense_Mutation_p.V407M|IKZF3_ENST00000350532.3_Missense_Mutation_p.V402M|IKZF3_ENST00000439167.2_Missense_Mutation_p.V368M|IKZF3_ENST00000377945.3_Missense_Mutation_p.V307M|IKZF3_ENST00000467757.1_Missense_Mutation_p.V385M|IKZF3_ENST00000439016.2_Missense_Mutation_p.V346M|IKZF3_ENST00000377944.3_Missense_Mutation_p.V298M|IKZF3_ENST00000394189.2_Missense_Mutation_p.V259M|IKZF3_ENST00000346243.3_Missense_Mutation_p.V363M|IKZF3_ENST00000583368.1_Missense_Mutation_p.V194M NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 441.0 B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42.0 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TTGTTGATCACTTTGACGGAG 0.572 0 138.0 137.0 137.0 17 37922252.0 2203.0 4300.0 6503.0 SO:0001583 missense AF129512 CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1 17q11.2 2013-01-08 2006-08-25 2006-08-25 ENSG00000161405 ENSG00000161405 22806.0 22806.0 """Zinc fingers, C2H2-type"", ""IKAROS zinc fingers""" 13178.0 protein-coding gene gene with protein product 606221.0 """zinc finger protein, subfamily 1A, 3 (Aiolos)""" ZNFN1A3 9155026, 10552935 Standard NM_012481 NM_012481 Approved Aiolos uc002hsu.4 Q9UKT9 OTTHUMG00000133250 ENST00000346872.3:c.1321G>A 17.__UNKNOWN__:g.37922252C>T ENSP00000344544:p.Val441Met B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3 __UNKNOWN__ CCDS11346.1 . . . . . . . . . . C 28.2 4.898043 0.91962 . . ENSG00000161405 ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757 D;D;D;D;D;D;D;D;D;D 0.97303 -4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33 5.72 5.72 0.89469 . 0.000000 0.52532 D 0.000061 D 0.98261 0.9424 M 0.73372 2.23 0.58432 D 0.999999 D;D;D;D;D;P;D;D;D;P;D;D;B 0.89917 1.0;1.0;1.0;1.0;1.0;0.918;0.999;1.0;0.998;0.918;1.0;1.0;0.264 D;D;D;D;D;P;D;D;D;P;D;D;B 0.91635 0.999;0.999;0.999;0.999;0.999;0.835;0.999;0.999;0.918;0.882;0.999;0.999;0.325 D 0.98074 1.0400 10 0.42905 T 0.14 -17.8363 19.8646 0.96799 0.0:1.0:0.0:0.0 . 354;220;259;307;298;407;363;346;402;385;402;368;441 Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9 .;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN M 441;346;307;259;298;354;220;407;402;363;402;385 ENSP00000367180:V307M;ENSP00000377741:V259M;ENSP00000367179:V298M;ENSP00000367194:V354M;ENSP00000367188:V220M;ENSP00000438972:V407M;ENSP00000345622:V402M;ENSP00000341977:V363M;ENSP00000344471:V402M;ENSP00000420463:V385M ENSP00000341977:V363M V - 1 0 IKZF3 35175778 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 7.818000 0.86416 2.702000 0.92279 0.655000 0.94253 GTG IKZF3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257004.2 - ENST00000346872.3 Missense_Mutation SNP PCPG-TCGA-RX-A8JQ-Normal-SM-5EQGV B4GALNT4 338707 broad.mit.edu 37 11 376159 376159 + Missense_Mutation SNP C C T TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr11:376159C>T ENST00000329962.6 + 12.0 1181 c.1181C>T c.(1180-1182)cCg>cTg p.P394L NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 394.0 metabolic process (GO:0008152) Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021) acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842) endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24.0 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CGCGAGTCTCCGCTGTATCTG 0.672 0 26.0 26.0 26.0 11 376159.0 2200.0 4290.0 6490.0 SO:0001583 missense AB089939 CCDS7694.1 11p15.5 2013-02-19 ENSG00000182272 ENSG00000182272 338707.0 338707.0 2.4.1.- """Beta 4-glycosyltransferases""" 26315.0 protein-coding gene gene with protein product 15044014 Standard NM_178537 NM_178537 Approved FLJ25045, NGalNAc-T1 uc001lpb.3 Q76KP1 OTTHUMG00000119075 ENST00000329962.6:c.1181C>T 11.__UNKNOWN__:g.376159C>T ENSP00000328277:p.Pro394Leu Q96LV2 __UNKNOWN__ CCDS7694.1 . . . . . . . . . . c 20.6 4.009641 0.75046 . . ENSG00000182272 ENST00000329962 T 0.72725 -0.68 3.01 3.01 0.34805 . 0.320491 0.28307 N 0.015833 T 0.78997 0.4372 L 0.47016 1.485 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 T 0.82293 -0.0529 10 0.87932 D 0 -28.2981 15.2295 0.73374 0.0:1.0:0.0:0.0 . 394 Q76KP1 B4GN4_HUMAN L 394 ENSP00000328277:P394L ENSP00000328277:P394L P + 2 0 B4GALNT4 366159 1.000000 0.71417 0.646000 0.29493 0.658000 0.38924 5.596000 0.67570 1.978000 0.57642 0.436000 0.28706 CCG B4GALNT4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000239289.2 + ENST00000329962.6 Missense_Mutation SNP PCPG-TCGA-RX-A8JQ-Normal-SM-5EQGV PRUNE2 158471 broad.mit.edu 37 9 79324952 79324952 + Missense_Mutation SNP C C G TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr9:79324952C>G ENST00000376718.3 - 8.0 2361 c.2238G>C c.(2236-2238)gaG>gaC p.E746D PRUNE2_ENST00000428286.1_Missense_Mutation_p.E387D NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 746.0 apoptotic process (GO:0006915) cytoplasm (GO:0005737) metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462) endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16.0 AAGGTGACTTCTCCATGGGCA 0.498 0 58.0 53.0 54.0 9 79324952.0 1568.0 3582.0 5150.0 SO:0001583 missense BC019095 CCDS47982.1 9q21.32 2013-04-29 2006-11-24 2006-11-24 ENSG00000106772 ENSG00000106772 158471.0 158471.0 25209.0 protein-coding gene gene with protein product """olfaxin""" 610691.0 """chromosome 9 open reading frame 65"", ""KIAA0367""" C9orf65, KIAA0367 16288218 Standard NM_138818 NM_015225 Approved BMCC1, BNIPXL, A214N16.3, bA214N16.3 uc010mpk.3 Q8WUY3 OTTHUMG00000020047 ENST00000376718.3:c.2238G>C 9.__UNKNOWN__:g.79324952C>G ENSP00000365908:p.Glu746Asp B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665 __UNKNOWN__ CCDS47982.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 9.310|9.310 1.055284|1.055284 0.19907|0.19907 .|. .|. ENSG00000106772|ENSG00000106772 ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088 T;T|T 0.26518|0.25912 1.73;1.73|1.77 5.85|5.85 1.78|1.78 0.24846|0.24846 .|. 0.000000|0.000000 0.52532|0.52532 D|D 0.000080|0.000080 T|T 0.29945|0.29945 0.0749|0.0749 M|M 0.64997|0.64997 1.995|1.995 0.25663|0.25663 N|N 0.985975|0.985975 B|. 0.32653|. 0.379|. B|. 0.26517|. 0.07|. T|T 0.13818|0.13818 -1.0495|-1.0495 10|8 0.39692|0.66056 T|D 0.17|0.02 -18.932|-18.932 5.3676|5.3676 0.16123|0.16123 0.0:0.5177:0.1352:0.347|0.0:0.5177:0.1352:0.347 .|. 746|. Q8WUY3|. PRUN2_HUMAN|. D|Q 746;387;745|68 ENSP00000365908:E746D;ENSP00000397425:E387D|ENSP00000389706:E68Q ENSP00000365908:E746D|ENSP00000389706:E68Q E|E -|- 3|1 2|0 PRUNE2|PRUNE2 78514772|78514772 0.866000|0.866000 0.29940|0.29940 0.153000|0.153000 0.22517|0.22517 0.009000|0.009000 0.06853|0.06853 0.880000|0.880000 0.28159|0.28159 0.374000|0.374000 0.24650|0.24650 0.563000|0.563000 0.77884|0.77884 GAG|GAA PRUNE2-003 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052730.2 - ENST00000376718.3 Missense_Mutation SNP PCPG-TCGA-RX-A8JQ-Normal-SM-5EQGV ABCA7 10347 bcgsc.ca 37 19 1045028 1045028 + Missense_Mutation SNP G G A TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr19:1045028G>A ENST00000435683.2 + 6.0 829 c.829G>A c.(829-831)Gca>Aca p.A277T ABCA7_ENST00000263094.6_Missense_Mutation_p.A415T|ABCA7_ENST00000433129.1_Missense_Mutation_p.A415T Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 415.0 apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587) apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215) 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) 65.0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGGAGGCGGCACCCTCAGA 0.667 0 43.0 47.0 45.0 19 1045028.0 2203.0 4296.0 6499.0 SO:0001583 missense AF328787 CCDS12055.1 19p13.3 2012-03-14 ENSG00000064687 ENSG00000064687 10347.0 10347.0 """ATP binding cassette transporters / subfamily A""" 37.0 protein-coding gene gene with protein product 605414 Standard NM_019112 NM_019112 Approved ABCX uc002lqw.4 Q8IZY2 OTTHUMG00000167547 ENST00000435683.2:c.829G>A 19.__UNKNOWN__:g.1045028G>A ENSP00000465322:p.Ala277Thr Q96S58|Q9BZC4|Q9NR73|Q9UKP8 __UNKNOWN__ . . . . . . . . . . G 13.44 2.238908 0.39598 . . ENSG00000064687 ENST00000263094;ENST00000433129 D;D 0.97328 -4.34;-4.34 4.76 -4.16 0.03869 . . . . . D 0.92067 0.7486 L 0.36672 1.1 0.09310 N 1 B;B 0.11235 0.004;0.001 B;B 0.12837 0.008;0.002 T 0.82975 -0.0190 9 0.40728 T 0.16 . 4.7325 0.12972 0.2317:0.0:0.4173:0.351 . 277;415 Q8IZY2-2;Q8IZY2 .;ABCA7_HUMAN T 415 ENSP00000263094:A415T;ENSP00000414062:A415T ENSP00000263094:A415T A + 1 0 ABCA7 996028 0.000000 0.05858 0.000000 0.03702 0.786000 0.44442 -0.286000 0.08399 -0.206000 0.10203 0.462000 0.41574 GCA ABCA7-002 NOVEL basic|appris_principal protein_coding protein_coding OTTHUMT00000395001.2 + ENST00000435683.2 Missense_Mutation SNP PCPG-TCGA-RX-A8JQ-Normal-SM-5EQGV FOXH1 8928 bcgsc.ca 37 8 145700255 145700255 + Missense_Mutation SNP C C T TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr8:145700255C>T ENST00000377317.4 - 3.0 1042 c.464G>A c.(463-465)cGg>cAg p.R155Q FOXH1_ENST00000525197.1_Intron NM_003923.2 NP_003914.1 O75593 FOXH1_HUMAN forkhead box H1 155.0 aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222) activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5.0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) ACTGGGCGGCCGGTATGGCCG 0.716 0 11.0 15.0 13.0 8 145700255.0 2128.0 4200.0 6328.0 SO:0001583 missense AF076292 CCDS6428.1 8q24.3 2014-08-12 ENSG00000160973 8928.0 8928.0 """Forkhead boxes""" 3814.0 protein-coding gene gene with protein product 603621 9702198 Standard NM_003923 Approved FAST1 uc003zdc.3 O75593 OTTHUMG00000165172 ENST00000377317.4:c.464G>A 8.__UNKNOWN__:g.145700255C>T ENSP00000366534:p.Arg155Gln D3DWM4 __UNKNOWN__ CCDS6428.1 . . . . . . . . . . C 8.051 0.766051 0.15983 . . ENSG00000160973 ENST00000377317;ENST00000292541 D 0.95622 -3.76 5.29 -3.11 0.05299 . 1.391920 0.04218 N 0.332965 D 0.84835 0.5560 N 0.04508 -0.205 0.09310 N 1 B 0.22480 0.07 B 0.08055 0.003 T 0.78658 -0.2118 10 0.14252 T 0.57 -19.478 4.3265 0.11043 0.2355:0.3556:0.0:0.4089 . 155 O75593 FOXH1_HUMAN Q 155;182 ENSP00000366534:R155Q ENSP00000292541:R182Q R - 2 0 FOXH1 145671063 0.018000 0.18449 0.000000 0.03702 0.003000 0.03518 0.232000 0.17891 -0.746000 0.04766 -0.291000 0.09656 CGG FOXH1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000382451.1 - ENST00000377317.4 Missense_Mutation SNP PCPG-TCGA-RX-A8JQ-Normal-SM-5EQGV KLHL8 57563 bcgsc.ca 37 4 88104519 88104519 + Missense_Mutation SNP A A G TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chr4:88104519A>G ENST00000498875.2 - 4.0 829 c.560T>C c.(559-561)gTt>gCt p.V187A KLHL8_ENST00000425278.2_Missense_Mutation_p.V80A|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000512111.1_Missense_Mutation_p.V263A|KLHL8_ENST00000273963.5_Missense_Mutation_p.V263A Q9P2G9 KLHL8_HUMAN kelch-like family member 8 263.0 BACK. protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 17.0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) AAGAAAATCAACCGGCAACAA 0.328 0 112.0 106.0 108.0 4 88104519.0 2203.0 4300.0 6503.0 SO:0001583 missense AB037799 CCDS3617.1, CCDS75163.1 4q21.3 2013-01-30 2013-01-30 ENSG00000145332 ENSG00000145332 57563.0 57563.0 """Kelch-like"", ""BTB/POZ domain containing""" 18644.0 protein-coding gene gene with protein product 611967 """kelch-like 8 (Drosophila)""" Standard XM_005263153 Approved KIAA1378 uc003hql.1 Q9P2G9 OTTHUMG00000130593 ENST00000498875.2:c.560T>C 4.__UNKNOWN__:g.88104519A>G ENSP00000426451:p.Val187Ala Q53XA3|Q6N018 __UNKNOWN__ . . . . . . . . . . A 14.21 2.467884 0.43839 . . ENSG00000145332 ENST00000273963;ENST00000498875;ENST00000425278;ENST00000512111 T;T;T;T 0.77877 -0.28;-0.28;-1.13;-0.28 5.51 5.51 0.81932 BTB/Kelch-associated (2); 0.263004 0.38959 N 0.001511 T 0.69061 0.3069 L 0.31065 0.9 0.80722 D 1 B;B;B 0.16166 0.002;0.016;0.001 B;B;B 0.13407 0.004;0.009;0.005 T 0.65240 -0.6216 10 0.48119 T 0.1 . 15.6219 0.76813 1.0:0.0:0.0:0.0 . 80;187;263 Q68DU9;Q6N018;Q9P2G9 .;.;KLHL8_HUMAN A 263;187;80;263 ENSP00000273963:V263A;ENSP00000426451:V187A;ENSP00000408854:V80A;ENSP00000424131:V263A ENSP00000273963:V263A V - 2 0 KLHL8 88323543 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 8.900000 0.92551 2.085000 0.62840 0.482000 0.46254 GTT KLHL8-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000363203.1 - ENST00000498875.2 Missense_Mutation SNP PCPG-TCGA-RX-A8JQ-Normal-SM-5EQGV SLC9A7 84679 ucsc.edu 37 X 46521585 46521585 + Missense_Mutation SNP C C G TCGA-RX-A8JQ-01A-11D-A35D-08 TCGA-RX-A8JQ-10A-01D-A35B-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 07fb67b7-7096-4464-919d-cca6f3fb068b c12b07a9-79c0-48da-8eef-39164023517d g.chrX:46521585C>G ENST00000328306.4 - 7.0 932 c.907G>C c.(907-909)Gtt>Ctt p.V303L NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 303.0 ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802) potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385) breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21.0 TGGTAGGCAACAATAGACCTA 0.383 Pancreas(118;454 1696 1930 13865 39976) 0 47.0 41.0 43.0 X 46521585.0 2203.0 4300.0 6503.0 SO:0001583 missense AF298591 CCDS14269.1, CCDS75967.1 Xp11.3 2013-05-22 2012-03-22 ENSG00000065923 ENSG00000065923 84679.0 84679.0 """Solute carriers""" 17123.0 protein-coding gene gene with protein product 300368 """solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7""" 11279194 Standard NM_032591 NM_001257291 Approved NHE7 uc004dgv.2 Q96T83 OTTHUMG00000021428 ENST00000328306.4:c.907G>C X.__UNKNOWN__:g.46521585C>G ENSP00000330320:p.Val303Leu O75827|Q5JXP9 __UNKNOWN__ CCDS14269.1 . . . . . . . . . . C 20.7 4.027084 0.75390 . . ENSG00000065923 ENST00000328306 T 0.14893 2.47 5.02 5.02 0.67125 Cation/H+ exchanger (1); 0.000000 0.85682 D 0.000000 T 0.24236 0.0587 N 0.16307 0.4 0.80722 D 1 D;B 0.59357 0.985;0.182 P;B 0.62491 0.903;0.241 T 0.07309 -1.0779 10 0.27082 T 0.32 . 17.8283 0.88673 0.0:1.0:0.0:0.0 . 74;303 B3KPP8;Q96T83 .;SL9A7_HUMAN L 303 ENSP00000330320:V303L ENSP00000330320:V303L V - 1 0 SLC9A7 46406529 1.000000 0.71417 1.000000 0.80357 0.784000 0.44337 4.506000 0.60428 2.229000 0.72834 0.600000 0.82982 GTT SLC9A7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056370.1 - ENST00000328306.4 Missense_Mutation SNP PCPG-TCGA-RX-A8JQ-Normal-SM-5EQGV PGLYRP4 57115 broad.mit.edu 37 1 153312923 153312923 + Missense_Mutation SNP C C T TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr1:153312923C>T ENST00000359650.5 - 7.0 822 c.758G>A c.(757-759)cGc>cAc p.R253H PGLYRP4_ENST00000368739.3_Missense_Mutation_p.R249H NM_020393.2 NP_065126.2 Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 253.0 defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253) extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020) N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270) breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23.0 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GACCAGCAGGCGGCACTCATC 0.542 0 101.0 97.0 99.0 1 153312923.0 2203.0 4300.0 6503.0 SO:0001583 missense AF242518 CCDS30871.1 1q21 2008-02-05 ENSG00000163218 ENSG00000163218 57115.0 57115.0 30015.0 protein-coding gene gene with protein product """peptidoglycan recognition protein I beta precursor""" 608198.0 11461926 Standard NM_020393 XR_241090 Approved SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta uc001fbo.3 Q96LB8 OTTHUMG00000037057 ENST00000359650.5:c.758G>A 1.__UNKNOWN__:g.153312923C>T ENSP00000352672:p.Arg253His A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75 __UNKNOWN__ CCDS30871.1 . . . . . . . . . . C 12.63 1.996509 0.35226 . . ENSG00000163218 ENST00000368739;ENST00000359650 T;T 0.17213 2.29;2.29 3.64 -1.61 0.08399 Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4); 0.754962 0.11756 N 0.532586 T 0.15392 0.0371 L 0.60455 1.87 0.09310 N 0.999991 D;D 0.71674 0.998;0.998 P;D 0.65987 0.901;0.94 T 0.07947 -1.0746 10 0.45353 T 0.12 -24.8992 7.2323 0.26049 0.0:0.3842:0.0:0.6158 . 249;253 Q96LB8-2;Q96LB8 .;PGRP4_HUMAN H 249;253 ENSP00000357728:R249H;ENSP00000352672:R253H ENSP00000352672:R253H R - 2 0 PGLYRP4 151579547 0.000000 0.05858 0.397000 0.26308 0.498000 0.33706 -1.787000 0.01764 -0.225000 0.09913 0.655000 0.94253 CGC PGLYRP4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000089978.1 - ENST00000359650.5 Missense_Mutation SNP PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI EPO 2056 broad.mit.edu 37 7 100320669 100320669 + Silent SNP C C T TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr7:100320669C>T ENST00000252723.2 + 5.0 676 c.495C>T c.(493-495)ttC>ttT p.F165F NM_000799.2 NP_000790.2 P01588 EPO_HUMAN erythropoietin 165.0 aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165) cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615) protein kinase activator activity (GO:0030295) central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1) 12.0 Lung NSC(181;0.041)|all_lung(186;0.0581) CTGACACTTTCCGCAAACTCT 0.567 0 129.0 131.0 131.0 7 100320669.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X02157 CCDS5705.1 7q21 2014-01-30 ENSG00000130427 ENSG00000130427 2056.0 2056.0 """Endogenous ligands""" 3415.0 protein-coding gene gene with protein product 133170.0 9799793, 3838366 Standard NM_000799 NM_000799 Approved EP uc003uwi.3 P01588 OTTHUMG00000152121 ENST00000252723.2:c.495C>T 7.__UNKNOWN__:g.100320669C>T Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0 __UNKNOWN__ CCDS5705.1 EPO-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000325323.1 + ENST00000252723.2 Silent SNP PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI TLE4 7091 broad.mit.edu 37 9 82308561 82308561 + Missense_Mutation SNP T T C TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr9:82308561T>C ENST00000376552.2 + 9.0 1627 TLE4_ENST00000376537.4_Intron|TLE4_ENST00000376544.3_Missense_Mutation_p.L202P|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376520.4_Missense_Mutation_p.L202P|TLE4_ENST00000376534.4_Intron NM_007005.3 NP_008936.2 Q04727 TLE4_HUMAN transducin-like enhancer of split 4 negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055) nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714) 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) 39.0 AGAGACAAACTCAACCACAAA 0.433 0 96.0 89.0 91.0 9 82308561.0 876.0 1991.0 2867.0 SO:0001627 intron_variant M99439 CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1 9q21.32 2014-03-07 2014-03-07 ENSG00000106829 ENSG00000106829 7091.0 7091.0 """WD repeat domain containing""" 11840.0 protein-coding gene gene with protein product 605132.0 """transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)""" 8365415 Standard XM_212237 XM_005252167 Approved E(spI), ESG, GRG4 uc004alc.3 Q04727 OTTHUMG00000020072 ENST00000376552.2:c.610-11137T>C 9.__UNKNOWN__:g.82308561T>C F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9 __UNKNOWN__ CCDS43837.1 . . . . . . . . . . T 5.506 0.278363 0.10403 . . ENSG00000106829 ENST00000376544;ENST00000376520 T;T 0.47528 0.84;0.89 3.91 -0.41 0.12374 . 19.070500 0.00166 N 0.000019 T 0.31231 0.0790 . . . 0.09310 N 1 . . . . . . T 0.11817 -1.0572 7 0.20519 T 0.43 . 6.4721 0.22013 0.0:0.3813:0.0:0.6187 . . . . P 202 ENSP00000365727:L202P;ENSP00000365703:L202P ENSP00000365703:L202P L + 2 0 TLE4 81498381 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -2.189000 0.01248 -0.072000 0.12864 -0.475000 0.04921 CTC TLE4-008 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052792.4 + ENST00000376552.2 Intron SNP PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI RBM23 0 broad.mit.edu 37 14 23371511 23371511 + Silent SNP G G A TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr14:23371511G>A ENST00000359890.3 - 11.0 1206 c.1011C>T c.(1009-1011)ggC>ggT p.G337G RBM23_ENST00000542016.2_Silent_p.G167G|RBM23_ENST00000346528.5_Silent_p.G303G|RBM23_ENST00000399922.2_Silent_p.G321G|RBM23_ENST00000555209.1_Silent_p.G87G NM_001077351.1 NP_001070819.1 Q86U06 RBM23_HUMAN RNA binding motif protein 23 337.0 RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}. mRNA processing (GO:0006397) membrane (GO:0016020)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|RNA binding (GO:0003723) endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1) 10.0 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.0128) CAGTCACATGGCCAACCCTCA 0.552 0 72.0 71.0 71.0 14 23371511.0 2014.0 4200.0 6214.0 SO:0001819 synonymous_variant AF275678 CCDS41919.1, CCDS41920.1, CCDS41921.1 14q11.1 2014-07-03 2004-04-23 2004-04-23 ENSG00000100461 55147.0 """RNA binding motif (RRM) containing""" 20155.0 protein-coding gene gene with protein product """coactivator of activating protein-1 and estrogen recep- tors beta""" """RNA-binding region (RNP1, RRM) containing 4""" RNPC4 15694343 Standard NM_018107 Approved FLJ10482, CAPERbeta uc001whg.3 Q86U06 ENST00000359890.3:c.1011C>T 14.__UNKNOWN__:g.23371511G>A D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7 __UNKNOWN__ CCDS41921.1 . . . . . . . . . . G 0.290 -0.980888 0.02197 . . ENSG00000100461 ENST00000553884 . . . 4.82 0.903 0.19296 . . . . . T 0.42086 0.1187 . . . 0.80722 D 1 . . . . . . T 0.24548 -1.0157 4 . . . -9.4112 1.3522 0.02175 0.3339:0.1362:0.3903:0.1396 . . . . S 112 . . P - 1 0 RBM23 22441351 0.027000 0.19231 0.997000 0.53966 0.136000 0.21042 -0.969000 0.03813 0.267000 0.21916 -0.251000 0.11542 CCA RBM23-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000413545.3 - ENST00000359890.3 Silent SNP PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI LAMA4 3910 broad.mit.edu 37 6 112522827 112522827 + Missense_Mutation SNP G G A TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr6:112522827G>A ENST00000230538.7 - 5.0 882 c.485C>T c.(484-486)gCt>gTt p.A162V LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 162.0 Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}. blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606) extracellular matrix structural constituent (GO:0005201) 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) 100.0 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) GTTAGGTCCAGCATAATTTTC 0.388 0 282.0 295.0 291.0 6 112522827.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS34514.1, CCDS43491.1, CCDS43492.1 6q21 2014-09-17 ENSG00000112769 ENSG00000112769 3910.0 3910.0 """Laminins""" 6484.0 protein-coding gene gene with protein product 600133.0 7959779 Standard NM_001105206 NM_001105206 Approved LAMA3 uc003pvu.3 Q16363 OTTHUMG00000015386 ENST00000230538.7:c.485C>T 6.__UNKNOWN__:g.112522827G>A ENSP00000230538:p.Ala162Val Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9 __UNKNOWN__ CCDS43491.1 . . . . . . . . . . G 18.10 3.548413 0.65311 . . ENSG00000112769 ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639 T;T;T;T;T 0.62498 0.02;0.02;0.02;0.02;0.02 6.07 5.2 0.72013 EGF-like, laminin (4); 0.052287 0.85682 N 0.000000 T 0.26340 0.0643 L 0.28115 0.83 0.80722 D 1 B;B 0.06786 0.001;0.001 B;B 0.12156 0.007;0.004 T 0.19582 -1.0301 10 0.05833 T 0.94 . 14.1512 0.65387 0.07:0.0:0.93:0.0 . 162;162 Q16363;Q16363-2 LAMA4_HUMAN;. V 162 ENSP00000230538:A162V;ENSP00000429488:A162V;ENSP00000374114:A162V;ENSP00000416470:A162V;ENSP00000430336:A162V ENSP00000230538:A162V A - 2 0 LAMA4 112629520 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 5.525000 0.67110 1.547000 0.49401 0.655000 0.94253 GCT LAMA4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000041876.2 - ENST00000230538.7 Missense_Mutation SNP PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI MAP1A 4130 broad.mit.edu 37 15 43820463 43820463 + Silent SNP C C T TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr15:43820463C>T ENST00000382031.1 + 5.0 7537 c.7506C>T c.(7504-7506)acC>acT p.T2502T MAP1A_ENST00000300231.5_Silent_p.T2264T|MAP1A_ENST00000399453.1_Silent_p.T2264T P78559 MAP1A_HUMAN microtubule-associated protein 1A 2264.0 microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605) cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875) structural molecule activity (GO:0005198) 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) 66.0 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) CTGAGGCTACCACGCCTGTGA 0.622 0 63.0 68.0 66.0 15 43820463.0 1967.0 4151.0 6118.0 SO:0001819 synonymous_variant U38292 CCDS42031.1 15q15.3 2006-06-15 ENSG00000166963 ENSG00000166963 4130.0 4130.0 6835.0 protein-coding gene gene with protein product 600178.0 MAP1L 7806212, 7629894 Standard NM_002373 XM_005254385 Approved uc001zrt.3 P78559 OTTHUMG00000059756 ENST00000382031.1:c.7506C>T 15.__UNKNOWN__:g.43820463C>T O95643|Q12973|Q15882|Q9UJT4 __UNKNOWN__ MAP1A-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000132895.2 + ENST00000382031.1 Silent SNP PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI ACAT2 39 broad.mit.edu 37 6 160184039 160184039 + Silent SNP T T G TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr6:160184039T>G ENST00000367048.4 + 2.0 1904 c.144T>G c.(142-144)gcT>gcG p.A48A ACAT2_ENST00000541436.1_Silent_p.A77A NM_005891.2 NP_005882.2 Q9BWD1 THIC_HUMAN acetyl-CoA acetyltransferase 2 48.0 lipid metabolic process (GO:0006629) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634) acetyl-CoA C-acetyltransferase activity (GO:0003985) breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1) 9.0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CCACTGTGGCTCCGGAAGATG 0.488 0 161.0 155.0 157.0 6 160184039.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF356877 CCDS5268.1 6q25.3 2014-05-19 2010-04-30 ENSG00000120437 ENSG00000120437 39.0 39.0 2.3.1.9 94.0 protein-coding gene gene with protein product """acetoacetyl Coenzyme A thiolase""" 100678.0 """acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)"", ""acetyl-Coenzyme A acetyltransferase 2""" 2475872 Standard NM_005891 NM_005891 Approved uc010kjy.3 Q9BWD1 OTTHUMG00000015935 ENST00000367048.4:c.144T>G 6.__UNKNOWN__:g.160184039T>G B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4 __UNKNOWN__ CCDS5268.1 ACAT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042912.1 + ENST00000367048.4 Silent SNP PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI RBL1 5933 broad.mit.edu 37 20 35632208 35632208 + Missense_Mutation SNP C C T TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr20:35632208C>T ENST00000373664.3 - 21.0 2999 c.2933G>A c.(2932-2934)cGc>cAc p.R978H RBL1_ENST00000344359.3_Missense_Mutation_p.R978H NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 978.0 chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) transcription factor binding (GO:0008134) NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42.0 Myeloproliferative disorder(115;0.00878) CTGGGAAATGCGGCGTGGTGA 0.453 C 1.0 0.0005 0.002 2184.0 1.0 , , 0.0003 0.0005 1.0 LOWCOV,EXOME 0.0009 SNP 0 127.0 115.0 119.0 20 35632208.0 2203.0 4300.0 6503.0 SO:0001583 missense L14812 CCDS13289.1, CCDS13290.1 20q11.23 2014-03-11 2014-03-11 ENSG00000080839 ENSG00000080839 5933.0 5933.0 9893.0 protein-coding gene gene with protein product 116957.0 1833063 Standard NM_002895 NM_183404 Approved p107, cp107, PRB1 uc002xgi.3 P28749 OTTHUMG00000032406 ENST00000373664.3:c.2933G>A 20.__UNKNOWN__:g.35632208C>T ENSP00000362768:p.Arg978His A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1 __UNKNOWN__ CCDS13289.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 C 32 5.182230 0.94885 . . ENSG00000080839 ENST00000373664;ENST00000344359 T;T 0.59772 0.24;0.24 5.04 5.04 0.67666 Rb C-terminal (1); 0.000000 0.85682 D 0.000000 T 0.78960 0.4366 M 0.83223 2.63 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.999 T 0.82159 -0.0595 10 0.87932 D 0 -7.9578 18.5888 0.91200 0.0:1.0:0.0:0.0 . 978;978 P28749-2;P28749 .;RBL1_HUMAN H 978 ENSP00000362768:R978H;ENSP00000343646:R978H ENSP00000343646:R978H R - 2 0 RBL1 35065622 1.000000 0.71417 1.000000 0.80357 0.978000 0.69477 6.594000 0.74104 2.632000 0.89209 0.650000 0.86243 CGC RBL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079067.2 - ENST00000373664.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI HYDIN 54768 broad.mit.edu 37 16 71054178 71054178 + Missense_Mutation SNP T T C rs117718337 TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr16:71054178T>C ENST00000393567.2 - 22.0 3379 c.3229A>G c.(3229-3231)Ata>Gta p.I1077V HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1077.0 I -> V (in dbSNP:rs6416709). cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591) cell projection (GO:0042995) p.I1077V(3)|p.I1029V(3) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43.0 Ovarian(137;0.0654) ATGTTCTTTATGGCCAAGGGC 0.418 6 Substitution - Missense(6) lung(2)|prostate(2)|endometrium(2) 129.0 123.0 125.0 16 71054178.0 1855.0 4094.0 5949.0 SO:0001583 missense AK074472 CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1 16q22.2 2014-02-05 2012-01-06 ENSG00000157423 ENSG00000157423 54768.0 54768.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 19368.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 31""" 610812.0 """hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)""" 12719380, 23022101 Standard NM_001198542 Approved DKFZp434D0513, KIAA1864, PPP1R31, CILD5 uc031qwy.1 Q4G0P3 OTTHUMG00000137584 ENST00000393567.2:c.3229A>G 16.__UNKNOWN__:g.71054178T>C ENSP00000377197:p.Ile1077Val A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5 __UNKNOWN__ CCDS59269.1 . . . . . . . . . . t 6.789 0.514533 0.12944 . . ENSG00000157423 ENST00000393567;ENST00000316490;ENST00000448089 T;T 0.06371 3.31;3.31 4.61 0.358 0.16084 . 0.892413 0.09073 U 0.852581 T 0.06096 0.0158 L 0.58101 1.795 0.80722 D 1 B 0.09022 0.002 B 0.10450 0.005 T 0.33059 -0.9883 10 0.18710 T 0.47 . 1.4303 0.02332 0.2901:0.0873:0.1652:0.4573 rs6416709;rs60865895 1077 F8WD23 . V 1077;1077;1029 ENSP00000377197:I1077V;ENSP00000398544:I1029V ENSP00000313052:I1077V I - 1 0 HYDIN 69611679 0.055000 0.20627 0.982000 0.44146 0.109000 0.19521 0.089000 0.15002 0.228000 0.21019 -0.676000 0.03789 ATA HYDIN-001 PUTATIVE not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000398624.3 - ENST00000393567.2 Missense_Mutation SNP PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI MECP2 4204 broad.mit.edu 37 X 153296731 153296731 + Missense_Mutation SNP C C T TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chrX:153296731C>T ENST00000303391.6 - 4.0 797 c.548G>A c.(547-549)gGa>gAa p.G183E MECP2_ENST00000407218.1_Missense_Mutation_p.E147K|MECP2_ENST00000453960.2_Missense_Mutation_p.G195E NM_004992.3 NP_004983.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 183.0 adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542) cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714) breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23.0 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCTGCCAGTTCCTGGAGCTTT 0.597 0 71.0 74.0 73.0 X 153296731.0 2203.0 4300.0 6503.0 SO:0001583 missense AF158180 CCDS14741.1, CCDS48193.1 Xq28 2014-09-17 2014-06-18 ENSG00000169057 ENSG00000169057 4204.0 4204.0 6990.0 protein-coding gene gene with protein product 300005.0 """mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)""" RTT, MRX16, MRX79 1606614, 10508514 Standard NM_004992 NM_004992 Approved uc004fjw.2 P51608 OTTHUMG00000024229 ENST00000303391.6:c.548G>A X.__UNKNOWN__:g.153296731C>T ENSP00000301948:p.Gly183Glu O15233|Q6QHH9|Q7Z384 __UNKNOWN__ CCDS14741.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 15.65|15.65 2.896473|2.896473 0.52121|0.52121 .|. .|. ENSG00000169057|ENSG00000169057 ENST00000407218|ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964 D|D;D 0.96491|0.96168 -4.03|-3.93;-3.93 5.48|5.48 5.48|5.48 0.80851|0.80851 .|Methyl-CpG DNA binding (1);DNA-binding, integrase-type (1); .|0.000000 .|0.64402 .|D .|0.000002 D|D 0.94618|0.94618 0.8265|0.8265 N|N 0.24115|0.24115 0.695|0.695 0.31004|0.31004 N|N 0.71996|0.71996 .|D;P .|0.53745 .|0.962;0.937 .|P;P .|0.56278 .|0.795;0.629 D|D 0.93486|0.93486 0.6831|0.6831 7|10 0.72032|0.45353 D|T 0.01|0.12 -9.7616|-9.7616 17.0301|17.0301 0.86458|0.86458 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|195;183 .|P51608-2;P51608 .|.;MECP2_HUMAN K|E 147|183;183;195;183 ENSP00000384865:E147K|ENSP00000301948:G183E;ENSP00000395535:G195E ENSP00000384865:E147K|ENSP00000301948:G183E E|G -|- 1|2 0|0 MECP2|MECP2 152949925|152949925 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.996000|0.996000 0.88848|0.88848 3.643000|3.643000 0.54374|0.54374 2.285000|2.285000 0.76669|0.76669 0.600000|0.600000 0.82982|0.82982 GAA|GGA MECP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000061144.1 - ENST00000303391.6 Missense_Mutation SNP PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI KYNU 8942 broad.mit.edu 37 2 143715264 143715264 + Missense_Mutation SNP C C T rs147103103 TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr2:143715264C>T ENST00000264170.4 + 7.0 820 c.562C>T c.(562-564)Cgg>Tgg p.R188W KYNU_ENST00000375773.2_Missense_Mutation_p.R188W|KYNU_ENST00000409512.1_Missense_Mutation_p.R188W NM_003937.2 NP_003928.1 kynureninase large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36.0 BRCA - Breast invasive adenocarcinoma(221;0.072) AGAAAGTATGCGGATGATAAA 0.308 C 1.0 0.0005 0.002 2184.0 0.9999 , , 0.0003 0.0004 0.8551 EXOME 0.0005 SNP 0 C TRP/ARG,TRP/ARG,TRP/ARG 0,4406 0,0,2203 111.0 108.0 109.0 562,562,562 5.2 1.0 2 dbSNP_134 109.0 1,8597 1.2+/-3.3 0,1,4298 no missense,missense,missense KYNU NM_001032998.1,NM_001199241.1,NM_003937.2 101,101,101 0,1,6501 TT,TC,CC 0.0116,0.0,0.0077 probably-damaging,probably-damaging,probably-damaging 188/308,188/466,188/466 143715264.0 1,13003 2203.0 4299.0 6502.0 SO:0001583 missense U57721 CCDS2183.1, CCDS33299.1 2q22.2 2010-11-23 2010-11-23 ENSG00000115919 ENSG00000115919 8942.0 8942.0 3.7.1.3 6469.0 protein-coding gene gene with protein product """L-kynurenine hydrolase""" 605197.0 """kynureninase (L-kynurenine hydrolase)""" 8706755, 9180257 Standard NM_001032998 NM_001199241 Approved uc002tvl.3 Q16719 OTTHUMG00000131829 ENST00000264170.4:c.562C>T 2.__UNKNOWN__:g.143715264C>T ENSP00000264170:p.Arg188Trp __UNKNOWN__ CCDS2183.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 C 24.8 4.573463 0.86542 0.0 1.16E-4 ENSG00000115919 ENST00000264170;ENST00000375773;ENST00000409512 T;T;T 0.56941 0.43;0.43;0.43 5.24 5.24 0.73138 Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1); 0.179758 0.37577 N 0.002029 T 0.62889 0.2465 L 0.47190 1.495 0.80722 D 1 D;D 0.76494 0.999;0.999 P;P 0.58928 0.842;0.848 T 0.66200 -0.5983 10 0.87932 D 0 . 15.8896 0.79286 0.0:0.8646:0.1353:0.0 . 188;188 Q16719;Q9BVW3 KYNU_HUMAN;. W 188 ENSP00000264170:R188W;ENSP00000364928:R188W;ENSP00000386731:R188W ENSP00000264170:R188W R + 1 2 KYNU 143431734 1.000000 0.71417 1.000000 0.80357 0.964000 0.63967 1.408000 0.34668 2.428000 0.82296 0.585000 0.79938 CGG KYNU-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254772.1 + ENST00000264170.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI ZNF510 22869 broad.mit.edu 37 9 99521448 99521448 + Missense_Mutation SNP C C T rs143262029 TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr9:99521448C>T ENST00000375231.1 - 6.0 2314 c.1664G>A c.(1663-1665)cGa>cAa p.R555Q ZNF510_ENST00000223428.4_Missense_Mutation_p.R555Q Q9Y2H8 ZN510_HUMAN zinc finger protein 510 555.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 21.0 Acute lymphoblastic leukemia(62;0.0527) ATGATCTTTTCGCCAGAAGGA 0.413 0 C GLN/ARG 0,4406 0,0,2203 108.0 109.0 108.0 1664 1.1 0.4 9 dbSNP_134 108.0 1,8597 1.2+/-3.3 0,1,4298 no missense ZNF510 NM_014930.1 43 0,1,6501 TT,TC,CC 0.0116,0.0,0.0077 probably-damaging 555/684 99521448.0 1,13003 2203.0 4299.0 6502.0 SO:0001583 missense AB023189 CCDS35074.1 9q22.33 2013-01-08 ENSG00000081386 ENSG00000081386 22869.0 22869.0 """Zinc fingers, C2H2-type"", ""-""" 29161.0 protein-coding gene gene with protein product 10231032 Standard NM_014930 XM_005251807 Approved KIAA0972 uc004awn.1 Q9Y2H8 OTTHUMG00000020303 ENST00000375231.1:c.1664G>A 9.__UNKNOWN__:g.99521448C>T ENSP00000364379:p.Arg555Gln Q5SZP5 __UNKNOWN__ CCDS35074.1 . . . . . . . . . . C 5.640 0.302822 0.10678 0.0 1.16E-4 ENSG00000081386 ENST00000375231;ENST00000223428 T;T 0.07444 3.19;3.19 3.02 1.13 0.20643 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.03477 0.0100 L 0.28014 0.82 0.09310 N 1 B 0.30281 0.275 B 0.12156 0.007 T 0.38845 -0.9642 9 0.02654 T 1 . 2.635 0.04955 0.2308:0.5178:0.0:0.2514 . 555 Q9Y2H8 ZN510_HUMAN Q 555 ENSP00000364379:R555Q;ENSP00000223428:R555Q ENSP00000223428:R555Q R - 2 0 ZNF510 98561269 0.000000 0.05858 0.383000 0.26132 0.984000 0.73092 -2.011000 0.01452 0.299000 0.22661 0.655000 0.94253 CGA ZNF510-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053287.1 - ENST00000375231.1 Missense_Mutation SNP PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI KIAA0556 23247 broad.mit.edu 37 16 27751697 27751697 + Silent SNP C C A TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr16:27751697C>A ENST00000261588.4 + 15.0 2098 c.2079C>A c.(2077-2079)tcC>tcA p.S693S NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 693.0 extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76.0 ACAGTTTGTCCCAGTTAGAGG 0.498 0 73.0 75.0 75.0 16 27751697.0 2197.0 4300.0 6497.0 SO:0001819 synonymous_variant AB011128 CCDS32415.1 16p12.1-p11.2 2012-11-30 ENSG00000047578 ENSG00000047578 23247.0 23247.0 29068.0 protein-coding gene gene with protein product 9628581 Standard NM_015202 NM_015202 Approved uc002dow.3 O60303 OTTHUMG00000176780 ENST00000261588.4:c.2079C>A 16.__UNKNOWN__:g.27751697C>A A7E2C2 __UNKNOWN__ CCDS32415.1 KIAA0556-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000433724.1 + ENST00000261588.4 Silent SNP PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI CHST5 23563 broad.mit.edu 37 16 75563184 75563184 + Missense_Mutation SNP C C T TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr16:75563184C>T ENST00000336257.3 - 3.0 2493 c.1099G>A c.(1099-1101)Gtg>Atg p.V367M CHST5_ENST00000541075.1_Missense_Mutation_p.V373M|RP11-77K12.7_ENST00000460606.1_3'UTR NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 367.0 carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790) Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228) N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146) cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24.0 ACCTCCTGCACGCGCAGGATC 0.652 0 57.0 48.0 51.0 16 75563184.0 2198.0 4298.0 6496.0 SO:0001583 missense AF176839 CCDS10919.1 16q23.1 2008-02-05 ENSG00000135702 ENSG00000135702 23563.0 23563.0 """Sulfotransferases, membrane-bound""" 1973.0 protein-coding gene gene with protein product 604817.0 10491328, 11017086 Standard NM_012126 NM_024533 Approved I-GLCNAC-6-ST, FLJ22167 uc002fei.3 Q9GZS9 OTTHUMG00000137610 ENST00000336257.3:c.1099G>A 16.__UNKNOWN__:g.75563184C>T ENSP00000338783:p.Val367Met B2RV23|Q7LCN3|Q9UBY3 __UNKNOWN__ CCDS10919.1 . . . . . . . . . . C 9.581 1.123493 0.20959 . . ENSG00000135702 ENST00000336257;ENST00000541075 T;T 0.24151 1.87;1.87 2.84 2.84 0.33178 Sulfotransferase domain (1); 0.139230 0.43747 D 0.000536 T 0.45895 0.1365 M 0.84082 2.675 0.27750 N 0.944177 D;D 0.76494 0.999;0.999 D;D 0.71414 0.973;0.971 T 0.33059 -0.9883 10 0.72032 D 0.01 . 4.8201 0.13387 0.0:0.7273:0.0:0.2727 . 373;367 Q9GZS9-2;Q9GZS9 .;CHST5_HUMAN M 367;373 ENSP00000338783:V367M;ENSP00000441220:V373M ENSP00000338783:V367M V - 1 0 CHST5 74120685 0.505000 0.26131 0.998000 0.56505 0.010000 0.07245 0.930000 0.28858 1.583000 0.49898 0.313000 0.20887 GTG CHST5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269025.2 - ENST00000336257.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI ATF1 466 broad.mit.edu 37 12 51213461 51213461 + Missense_Mutation SNP A A C TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr12:51213461A>C ENST00000262053.3 + 7.0 737 c.715A>C c.(715-717)Aaa>Caa p.K239Q ATF1_ENST00000539132.1_Missense_Mutation_p.K104Q NM_005171.4 NP_005162.1 P18846 ATF1_HUMAN activating transcription factor 1 239.0 Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}. cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700) EWSR1/ATF1(347)|FUS/ATF1(4) breast(1)|large_intestine(1)|ovary(2) 4.0 Pseudoephedrine(DB00852) AGAATATGTGAAATGCCTGGA 0.313 T """EWSR1, FUS""" """malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """ Dom yes 12 12q13 466.0 activating transcription factor 1 """E, M""" 0 47.0 50.0 49.0 12 51213461.0 2203.0 4299.0 6502.0 SO:0001583 missense BC029619 CCDS8803.1 12q13 2014-05-13 ENSG00000123268 ENSG00000123268 466.0 466.0 """basic leucine zipper proteins""" 783.0 protein-coding gene gene with protein product 123803.0 8401579 Standard NM_005171 NM_005171 Approved TREB36 uc001rww.4 P18846 ENST00000262053.3:c.715A>C 12.__UNKNOWN__:g.51213461A>C ENSP00000262053:p.Lys239Gln B4DRF9|P25168|Q9H4A8 __UNKNOWN__ CCDS8803.1 . . . . . . . . . . A 22.9 4.351688 0.82132 . . ENSG00000123268 ENST00000262053;ENST00000539132 T;T 0.56776 0.44;0.44 5.48 5.48 0.80851 Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1); 0.042109 0.85682 D 0.000000 T 0.67951 0.2948 L 0.49778 1.585 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 T 0.70890 -0.4749 10 0.87932 D 0 0.857 15.8733 0.79141 1.0:0.0:0.0:0.0 . 239 P18846 ATF1_HUMAN Q 239;104 ENSP00000262053:K239Q;ENSP00000438403:K104Q ENSP00000262053:K239Q K + 1 0 ATF1 49499728 1.000000 0.71417 1.000000 0.80357 0.963000 0.63663 9.026000 0.93700 2.204000 0.70986 0.523000 0.50628 AAA ATF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404285.1 + ENST00000262053.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI PRAMEF11 440560 broad.mit.edu 37 1 12887579 12887579 + Missense_Mutation SNP G G T rs2486717 by1000genomes TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr1:12887579G>T ENST00000535591.1 - 3.0 473 c.278C>A c.(277-279)aCa>aAa p.T93K NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 93.0 negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284) p.T93K(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27.0 CTGCACTGGTGTTTTGTTCCT 0.493 1 Substitution - Missense(1) kidney(1) SO:0001583 missense AL049680 CCDS53268.1 1p36.21 2013-01-17 ENSG00000204513 ENSG00000239810 440560.0 440560.0 """-""" 14086.0 protein-coding gene gene with protein product Standard XM_496341 XM_006710645 Approved uc001auk.2 O60813 OTTHUMG00000001929 ENST00000535591.1:c.278C>A 1.__UNKNOWN__:g.12887579G>T ENSP00000439551:p.Thr93Lys __UNKNOWN__ CCDS53268.1 . . . . . . . . . . . 0.103 -1.150051 0.01700 . . ENSG00000204513 ENST00000535591;ENST00000331684;ENST00000437584 T;T 0.04603 3.59;3.59 1.48 -2.96 0.05547 . 3.413660 0.01687 N 0.026476 T 0.01156 0.0038 N 0.00268 -1.735 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.38672 -0.9650 10 0.12103 T 0.63 . 1.0378 0.01552 0.1543:0.2951:0.3093:0.2413 rs2486717 93 O60813 PRA11_HUMAN K 93;134;93 ENSP00000439551:T93K;ENSP00000391839:T93K ENSP00000328783:T134K T - 2 0 PRAMEF11 12810166 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.627000 0.02033 -3.350000 0.00181 -0.731000 0.03576 ACA PRAMEF11-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding - ENST00000535591.1 Missense_Mutation SNP PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI NF1 4763 broad.mit.edu 37 17 29533281 29533293 + Frame_Shift_Del DEL GATTGATGCTGTG GATTGATGCTGTG - TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr17:29533281_29533293delGATTGATGCTGTG ENST00000358273.4 + 12.0 1667_1679 c.1284_1296delGATTGATGCTGTG c.(1282-1296)aagattgatgctgtgfs p.KIDAV428fs NF1_ENST00000431387.4_Frame_Shift_Del_p.KIDAV428fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.KIDAV428fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 428.0 actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060) axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634) phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099) p.0?(8)|p.?(6) 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) 599.0 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) GGTGGCCTAAGATTGATGCTGTGTATTGTCACT 0.408 """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) yes Rec yes Neurofibromatosis type 1 17 17q12 4763.0 neurofibromatosis type 1 gene O 14 Whole gene deletion(8)|Unknown(6) soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1) SO:0001589 frameshift_variant Familial Cancer Database NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome CCDS11264.1, CCDS42292.1, CCDS45645.1 17q11.2 2014-09-17 2008-07-31 ENSG00000196712 ENSG00000196712 4763.0 4763.0 7765.0 protein-coding gene gene with protein product """neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease""" 613113.0 1715669 Standard NM_000267 NM_000267 Approved uc002hgg.3 P21359 OTTHUMG00000132871 ENST00000358273.4:c.1284_1296delGATTGATGCTGTG 17.__UNKNOWN__:g.29533281_29533293delGATTGATGCTGTG ENSP00000351015:p.Lys428fs O00662|Q14284|Q14930|Q14931|Q9UMK3 __UNKNOWN__ CCDS42292.1 NF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256351.2 + ENST00000358273.4 Frame_Shift_Del DEL PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI PLCB3 5331 broad.mit.edu 37 11 64033973 64033980 + Frame_Shift_Del DEL GACGGAGA GACGGAGA - TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr11:64033973_64033980delGACGGAGA ENST00000540288.1 + 29.0 3466_3473 c.3363_3370delGACGGAGA c.(3361-3372)ctgacggagattfs p.TEI1122fs PLCB3_ENST00000325234.5_Frame_Shift_Del_p.TEI1055fs|PLCB3_ENST00000279230.6_Frame_Shift_Del_p.TEI1122fs NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 1122.0 inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234) calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33.0 GCAGGGAACTGACGGAGATTAACCGTCG 0.644 0 SO:0001589 frameshift_variant Z26649 CCDS8064.1, CCDS53654.1 11q13 2008-03-18 ENSG00000149782 ENSG00000149782 5331.0 5331.0 3.1.4.11 9056.0 protein-coding gene gene with protein product 600230.0 7849701 Standard NM_000932 Approved uc009ypg.2 Q01970 OTTHUMG00000167816 ENST00000540288.1:c.3363_3370delGACGGAGA 11.__UNKNOWN__:g.64033973_64033980delGACGGAGA ENSP00000443631:p.Thr1122fs A5PKZ6|G5E960|Q8N1A4 __UNKNOWN__ CCDS8064.1 PLCB3-002 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000396405.1 + ENST00000540288.1 Frame_Shift_Del DEL PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI REM2 161253 broad.mit.edu 37 14 23354529 23354529 + Frame_Shift_Del DEL T T - TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr14:23354529delT ENST00000536884.1 + 2.0 511 REM2_ENST00000267396.4_Frame_Shift_Del_p.V167fs Q8IYK8 REM2_HUMAN RAS (RAD and GEM)-like GTP binding 2 small GTPase mediated signal transduction (GO:0007264) plasma membrane (GO:0005886) GTP binding (GO:0005525)|GTPase activity (GO:0003924) breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1) 5.0 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.012) ACTCTAGTCGTTTATGACATC 0.507 0 149.0 138.0 142.0 14 23354529.0 2000.0 4182.0 6182.0 SO:0001627 intron_variant CCDS45082.1 14q11.2 2014-05-09 2006-12-14 ENSG00000139890 ENSG00000139890 161253.0 161253.0 20248.0 protein-coding gene gene with protein product """RAS (RAD and GEM) like GTP binding 2""" 10727423 Standard NM_173527 NM_173527 Approved FLJ38964 uc001whf.1 Q8IYK8 OTTHUMG00000170277 ENST00000536884.1:c.445+305T>- 14.__UNKNOWN__:g.23354529delT B7Z5P1|Q8N8R8 __UNKNOWN__ REM2-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000408291.1 + ENST00000536884.1 Intron DEL PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI TAF1B 9014 ucsc.edu 37 2 10074087 10074087 + Nonsense_Mutation SNP A A T TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr2:10074087A>T ENST00000263663.5 + 15.0 1929 c.1741A>T c.(1741-1743)Aga>Tga p.R581* TAF1B_ENST00000396242.3_Nonsense_Mutation_p.R326* NM_005680.2 NP_005671 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa 581.0 gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351) extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860) metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14.0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AAAGAAATCAAGATCCAAGAA 0.299 0 32.0 34.0 33.0 2 10074087.0 2196.0 4297.0 6493.0 SO:0001587 stop_gained L39061 CCDS33143.1 2p25 2008-06-02 2002-08-29 ENSG00000115750 ENSG00000115750 9014.0 9014.0 11533.0 protein-coding gene gene with protein product 604904 """TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD""" 7801123 Standard NM_005680 NM_005680 Approved TAFI63, SL1, RAF1B, RAFI63 uc002qzz.3 Q53T94 OTTHUMG00000151673 ENST00000263663.5:c.1741A>T 2.__UNKNOWN__:g.10074087A>T ENSP00000263663:p.Arg581* B4DI42|F8WD72|Q15574|Q8WVC3 __UNKNOWN__ CCDS33143.1 . . . . . . . . . . A 20.4 3.984425 0.74474 . . ENSG00000115750 ENST00000263663;ENST00000396242 . . . 5.7 1.72 0.24424 . 0.894418 0.09657 N 0.772897 . . . . . . 0.53688 D 0.999974 . . . . . . . . . . . . . -10.4403 2.6 0.04864 0.6158:0.1541:0.0822:0.1479 . . . . X 581;326 . . R + 1 2 TAF1B 9991538 0.781000 0.28676 0.857000 0.33713 0.177000 0.22998 1.497000 0.35649 0.045000 0.15804 0.379000 0.24179 AGA TAF1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000323426.2 + ENST00000263663.5 Nonsense_Mutation SNP PCPG-TCGA-S7-A7WL-Normal-SM-5EMNI SERPINB9 5272 broad.mit.edu 37 6 2893754 2893754 + Missense_Mutation SNP A A G rs144457124 byFrequency TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr6:2893754A>G ENST00000380698.4 - 5.0 547 c.458T>C c.(457-459)aTt>aCt p.I153T NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 153.0 cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634) cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867) breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15.0 Ovarian(93;0.0412) all_hematologic(90;0.108) TTCTGCATCAATTGAGCTACC 0.398 A 1.0 0.0005 0.002 2184.0 1.0 , , 0.0003 0.0005 0.9547 EXOME 0.0024 SNP 0 A THR/ILE 5,4401 9.9+/-24.2 0,5,2198 127.0 123.0 124.0 458 4.2 0.0 6 dbSNP_134 124.0 3,8597 3.0+/-9.4 0,3,4297 yes missense SERPINB9 NM_004155.4 89 0,8,6495 GG,GA,AA 0.0349,0.1135,0.0615 possibly-damaging 153/377 2893754.0 8,12998 2203.0 4300.0 6503.0 SO:0001583 missense L40378 CCDS4478.1 6p25.2 2014-02-18 2005-08-18 ENSG00000170542 ENSG00000170542 5272.0 5272.0 """Serine (or cysteine) peptidase inhibitors""" 8955.0 protein-coding gene gene with protein product 601799.0 """serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9""" PI9 8530382, 9858835, 24172014 Standard NM_004155 Approved CAP3 uc003mug.4 P50453 OTTHUMG00000014131 ENST00000380698.4:c.458T>C 6.__UNKNOWN__:g.2893754A>G ENSP00000370074:p.Ile153Thr B2RBW3|Q5TD03 __UNKNOWN__ CCDS4478.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 A 18.28 3.588696 0.66105 0.001135 3.49E-4 ENSG00000170542 ENST00000380698 D 0.86030 -2.06 4.21 4.21 0.49690 Serpin domain (3); 0.359235 0.33217 N 0.005153 D 0.86732 0.6003 M 0.84156 2.68 0.20196 N 0.99992 P 0.41569 0.755 P 0.51453 0.67 T 0.81415 -0.0943 10 0.66056 D 0.02 . 13.4922 0.61402 1.0:0.0:0.0:0.0 . 153 P50453 SPB9_HUMAN T 153 ENSP00000370074:I153T ENSP00000370074:I153T I - 2 0 SERPINB9 2838753 0.846000 0.29590 0.005000 0.12908 0.004000 0.04260 6.942000 0.75928 2.123000 0.65237 0.533000 0.62120 ATT SERPINB9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039656.1 - ENST00000380698.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR LRRIQ1 84125 broad.mit.edu 37 12 85450448 85450448 + Missense_Mutation SNP A A G TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr12:85450448A>G ENST00000393217.2 + 8.0 1938 c.1877A>G c.(1876-1878)gAa>gGa p.E626G NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 626.0 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) 83.0 GBM - Glioblastoma multiforme(134;0.212) GATGTAAGAGAAAACGTAATA 0.289 0 28.0 30.0 29.0 12 85450448.0 2198.0 4292.0 6490.0 SO:0001583 missense AK022365 CCDS41816.1 12q21 2008-02-05 ENSG00000133640 ENSG00000133640 84125.0 84125.0 25708.0 protein-coding gene gene with protein product 11347906 Standard NM_032165 NM_001079910 Approved FLJ12303, KIAA1801 uc001tac.3 Q96JM4 OTTHUMG00000166185 ENST00000393217.2:c.1877A>G 12.__UNKNOWN__:g.85450448A>G ENSP00000376910:p.Glu626Gly Q567P4|Q9BS17|Q9HA36 __UNKNOWN__ CCDS41816.1 . . . . . . . . . . A 9.681 1.149205 0.21288 . . ENSG00000133640 ENST00000256007;ENST00000378580;ENST00000393217 T 0.52983 0.64 4.94 1.16 0.20824 . 1.152170 0.06532 N 0.741730 T 0.26376 0.0644 N 0.22421 0.69 0.09310 N 1 P;P 0.38922 0.651;0.651 B;B 0.30401 0.115;0.115 T 0.24297 -1.0164 10 0.41790 T 0.15 . 1.8679 0.03202 0.5525:0.1233:0.0954:0.2288 . 626;601 Q96JM4;C9JI57 LRIQ1_HUMAN;. G 626;601;626 ENSP00000376910:E626G ENSP00000256007:E626G E + 2 0 LRRIQ1 83974579 0.000000 0.05858 0.003000 0.11579 0.013000 0.08279 -0.084000 0.11268 0.848000 0.35191 0.482000 0.46254 GAA LRRIQ1-004 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000388249.2 + ENST00000393217.2 Missense_Mutation SNP PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR FAM73B 84895 broad.mit.edu 37 9 131832580 131832580 + Missense_Mutation SNP A A C TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr9:131832580A>C ENST00000358369.4 + 16.0 1856 c.1630A>C c.(1630-1632)Acg>Ccg p.T544P FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR NM_032809.2 NP_116198.2 Q7L4E1 FA73B_HUMAN family with sequence similarity 73, member B 544.0 bone development (GO:0060348) integral component of membrane (GO:0016021) breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1) 13.0 TGTGCGCTACACGTCACTGCC 0.672 0 69.0 53.0 58.0 9 131832580.0 2203.0 4299.0 6502.0 SO:0001583 missense AK074127 CCDS6917.1 9q34.13 2008-02-05 2005-08-11 2005-08-11 ENSG00000148343 ENSG00000148343 84895.0 84895.0 23621.0 protein-coding gene gene with protein product """chromosome 9 open reading frame 54""" C9orf54 Standard NM_032809 NM_032809 Approved FLJ14596, FLJ00199 uc004bxa.3 Q7L4E1 OTTHUMG00000020770 ENST00000358369.4:c.1630A>C 9.__UNKNOWN__:g.131832580A>C ENSP00000351138:p.Thr544Pro Q8NBM3|Q8TEJ6|Q969E6 __UNKNOWN__ CCDS6917.1 . . . . . . . . . . A 19.24 3.789553 0.70337 . . ENSG00000148343 ENST00000358369 T 0.25749 1.78 5.67 5.67 0.87782 . 0.153383 0.56097 D 0.000023 T 0.52805 0.1757 M 0.79926 2.475 0.80722 D 1 D;D 0.76494 0.999;0.961 D;P 0.68483 0.958;0.864 T 0.58171 -0.7683 10 0.66056 D 0.02 . 15.0946 0.72223 1.0:0.0:0.0:0.0 . 120;544 Q96NP4;Q7L4E1 .;FA73B_HUMAN P 544 ENSP00000351138:T544P ENSP00000351138:T544P T + 1 0 FAM73B 130872401 1.000000 0.71417 0.997000 0.53966 0.743000 0.42351 5.739000 0.68622 2.155000 0.67459 0.533000 0.62120 ACG FAM73B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054542.7 + ENST00000358369.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR BOD1L1 259282 broad.mit.edu 37 4 13600882 13600882 + Nonsense_Mutation SNP C C A TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr4:13600882C>A ENST00000040738.5 - 10.0 7777 c.7642G>T c.(7642-7644)Gag>Tag p.E2548* NM_148894.2 NP_683692.2 Q8NFC6 BD1L1_HUMAN biorientation of chromosomes in cell division 1-like 1 2548.0 nucleus (GO:0005634) DNA binding (GO:0003677) AAGGAATGCTCAGCCACGGTC 0.483 OREG0016115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 86.0 74.0 78.0 4 13600882.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AF528529 CCDS3411.2 4p16.1 2012-04-10 2012-04-10 2012-04-10 ENSG00000038219 ENSG00000038219 259282.0 259282.0 31792.0 protein-coding gene gene with protein product """family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like""" FAM44A, BOD1L Standard NM_148894 XM_005248150 Approved FLJ33215, KIAA1327 uc003gmz.1 Q8NFC6 OTTHUMG00000090659 ENST00000040738.5:c.7642G>T 4.__UNKNOWN__:g.13600882C>A ENSP00000040738:p.Glu2548* 688.0 Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9 __UNKNOWN__ CCDS3411.2 . . . . . . . . . . C 47 13.827079 0.99765 . . ENSG00000038219 ENST00000040738 . . . 4.57 3.72 0.42706 . 0.494861 0.18336 N 0.144337 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.66056 D 0.02 . 11.7067 0.51601 0.0:0.8209:0.1791:0.0 . . . . X 2548 . ENSP00000040738:E2548X E - 1 0 BOD1L 13209980 0.000000 0.05858 0.001000 0.08648 0.003000 0.03518 0.298000 0.19120 0.915000 0.36847 0.555000 0.69702 GAG BOD1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207321.1 - ENST00000040738.5 Nonsense_Mutation SNP PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR SEMA6D 80031 broad.mit.edu 37 15 48056089 48056089 + Missense_Mutation SNP G G A TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr15:48056089G>A ENST00000316364.5 + 10.0 1229 c.790G>A c.(790-792)Ggt>Agt p.G264S SEMA6D_ENST00000355997.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G264S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G264S|SEMA6D_ENST00000389425.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000558816.1_Missense_Mutation_p.G264S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G264S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G264S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G264S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G264S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G264S NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 264.0 Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}. axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor activity (GO:0004872) 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) 77.0 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) AAACGACATGGGTGGTTCCCA 0.488 0 154.0 146.0 149.0 15 48056089.0 2198.0 4297.0 6495.0 SO:0001583 missense AF389430 CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1 15q21.1 2006-09-18 ENSG00000137872 80031.0 80031.0 """Semaphorins""" 16770.0 protein-coding gene gene with protein product 609295.0 12110693, 14977921 Standard NM_024966 NM_020858 Approved KIAA1479, FLJ11598 uc001zvy.3 Q8NFY4 ENST00000316364.5:c.790G>A 15.__UNKNOWN__:g.48056089G>A ENSP00000324857:p.Gly264Ser A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249 __UNKNOWN__ CCDS32225.1 . . . . . . . . . . G 37 6.008020 0.97195 . . ENSG00000137872 ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425 T;T;T;T;T;T;T;T;T;T 0.73152 -0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72 5.87 5.87 0.94306 WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4); 0.000000 0.85682 D 0.000000 D 0.90369 0.6986 H 0.96996 3.92 0.80722 D 1 D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0 D;D;D;D;D 0.97110 1.0;1.0;1.0;1.0;1.0 D 0.92761 0.6224 10 0.87932 D 0 . 20.206 0.98277 0.0:0.0:1.0:0.0 . 264;264;264;264;264 Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2 .;.;.;SEM6D_HUMAN;. S 264 ENSP00000442040:G264S;ENSP00000446152:G264S;ENSP00000324857:G264S;ENSP00000374084:G264S;ENSP00000374083:G264S;ENSP00000346786:G264S;ENSP00000350770:G264S;ENSP00000374079:G264S;ENSP00000348276:G264S;ENSP00000374076:G264S ENSP00000324857:G264S G + 1 0 SEMA6D 45843381 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 9.869000 0.99810 2.785000 0.95823 0.655000 0.94253 GGT SEMA6D-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000416868.1 + ENST00000316364.5 Missense_Mutation SNP PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR TMEM105 284186 broad.mit.edu 37 17 79287591 79287591 + Missense_Mutation SNP G G T TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr17:79287591G>T ENST00000332900.1 - 3.0 799 c.250C>A c.(250-252)Cat>Aat p.H84N NM_178520.3 NP_848615.1 Q8N8V8 TM105_HUMAN transmembrane protein 105 84.0 integral component of membrane (GO:0016021) NS(1)|large_intestine(3)|lung(1)|ovary(2) 7.0 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892) GGCCCTTCATGTCTTCGCCTT 0.652 0 56.0 66.0 63.0 17 79287591.0 2203.0 4300.0 6503.0 SO:0001583 missense AK096111 CCDS11781.1 17q25.3 2008-04-21 2008-04-21 2008-04-21 ENSG00000185332 284186.0 284186.0 26794.0 protein-coding gene gene with protein product Standard NM_178520 NM_178520 Approved FLJ38792 uc002kad.2 Q8N8V8 ENST00000332900.1:c.250C>A 17.__UNKNOWN__:g.79287591G>T ENSP00000329795:p.His84Asn __UNKNOWN__ CCDS11781.1 . . . . . . . . . . G 1.948 -0.441876 0.04604 . . ENSG00000185332 ENST00000332900 T 0.52754 0.65 0.96 -0.433 0.12287 . . . . . T 0.23330 0.0564 N 0.08118 0 0.09310 N 1 B 0.12630 0.006 B 0.06405 0.002 T 0.17806 -1.0357 9 0.87932 D 0 . 3.9221 0.09248 0.0:0.0:0.5437:0.4563 . 84 Q8N8V8 TM105_HUMAN N 84 ENSP00000329795:H84N ENSP00000329795:H84N H - 1 0 TMEM105 76902186 0.020000 0.18652 0.010000 0.14722 0.075000 0.17131 -0.001000 0.12947 -0.130000 0.11599 0.313000 0.20887 CAT TMEM105-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000439607.1 - ENST00000332900.1 Missense_Mutation SNP PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR TTN 7273 broad.mit.edu 37 2 179611732 179611732 + Missense_Mutation SNP G G A TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr2:179611732G>A ENST00000589042.1 - 48.0 11536 TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.T5132I|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) 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) 1448.0 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGATGGATATGTTTTAAAAGT 0.453 0 103.0 104.0 104.0 2 179611732.0 2203.0 4299.0 6502.0 SO:0001627 intron_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273.0 7273.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403.0 protein-coding gene gene with protein product 188840.0 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_133378 NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.11312-5084C>T 2.__UNKNOWN__:g.179611732G>A A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 __UNKNOWN__ CCDS59435.1 . . . . . . . . . . G 3.350 -0.132718 0.06711 . . ENSG00000155657 ENST00000360870;ENST00000306136 T 0.56941 0.43 5.83 -11.7 0.00046 . . . . . T 0.25195 0.0612 N 0.14661 0.345 0.09310 N 0.999999 B 0.02656 0.0 B 0.04013 0.001 T 0.30357 -0.9981 9 0.62326 D 0.03 . 4.7504 0.13057 0.1075:0.4566:0.2688:0.1671 . 5132 Q8WZ42-6 . I 5132;413 ENSP00000354117:T5132I ENSP00000304714:T413I T - 2 0 TTN 179319977 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -2.649000 0.00858 -1.486000 0.01851 -0.961000 0.02630 ACA TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 - ENST00000589042.1 Intron SNP PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR SDHA 6389 broad.mit.edu 37 5 256498 256498 + Missense_Mutation SNP A A C TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr5:256498A>C ENST00000264932.6 + 15.0 2073 c.1958A>C c.(1957-1959)gAc>gCc p.D653A SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000510361.1_Missense_Mutation_p.D605A|SDHA_ENST00000504309.1_Missense_Mutation_p.D572A NM_004168.2 NP_004159.2 P31040 SDHA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 653.0 cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099) mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739) flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177) 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) 40.0 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) AACGAGGCTGACTGTGCCACC 0.433 Familial Paragangliomas 0 76.0 85.0 82.0 5 256498.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss BC001380 CCDS3853.1 5p15 2014-09-17 ENSG00000073578 ENSG00000073578 6389.0 6389.0 """Mitochondrial respiratory chain complex / Complex II""" 10680.0 protein-coding gene gene with protein product 600857.0 SDH2 7798181 Standard NM_004168 XM_005248329 Approved FP, SDHF uc003jao.4 P31040 OTTHUMG00000090275 ENST00000264932.6:c.1958A>C 5.__UNKNOWN__:g.256498A>C ENSP00000264932:p.Asp653Ala A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5 __UNKNOWN__ CCDS3853.1 . . . . . . . . . . N 12.43 1.934307 0.34096 . . ENSG00000073578 ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361 T;T;T 0.72394 -0.65;0.08;-0.65 4.12 4.12 0.48240 Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (1);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1); 0.129312 0.49916 U 0.000131 T 0.71584 0.3357 M 0.79926 2.475 0.58432 D 0.999997 B;P;B;B 0.40197 0.417;0.706;0.297;0.044 B;B;B;B 0.39935 0.314;0.261;0.099;0.046 T 0.76391 -0.2976 10 0.87932 D 0 . 11.0821 0.48066 1.0:0.0:0.0:0.0 . 605;247;572;653 E9PBJ5;B3KYA5;D6RFM5;P31040 .;.;.;DHSA_HUMAN A 653;508;572;605 ENSP00000264932:D653A;ENSP00000426514:D572A;ENSP00000427703:D605A ENSP00000264932:D653A D + 2 0 SDHA 309498 1.000000 0.71417 0.999000 0.59377 0.253000 0.25986 6.351000 0.73022 1.517000 0.48917 0.254000 0.18369 GAC SDHA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000206599.1 + ENST00000264932.6 Missense_Mutation SNP PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR AFTPH 54812 broad.mit.edu 37 2 64800181 64800181 + Silent SNP A A G TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr2:64800181A>G ENST00000238856.4 + 6.0 2687 c.2373A>G c.(2371-2373)acA>acG p.T791T AFTPH_ENST00000409933.1_Silent_p.T791T|AFTPH_ENST00000238855.7_Silent_p.T791T|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409183.1_Silent_p.T422T|AFTPH_ENST00000422803.1_Silent_p.T791T NM_001002243.2|NM_017657.4 NP_001002243.1|NP_060127.3 Q6ULP2 AFTIN_HUMAN aftiphilin 791.0 protein transport (GO:0015031) AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829) clathrin binding (GO:0030276) 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) 35.0 ATATGAACACATGTACATCTG 0.388 0 157.0 156.0 156.0 2 64800181.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB073356 CCDS1878.1, CCDS46303.1 2p14 2008-02-05 ENSG00000119844 ENSG00000119844 54812.0 54812.0 25951.0 protein-coding gene gene with protein product 14665628, 15758025, 15811338 Standard NM_017657 NM_017657 Approved MGC33965, FLJ20080, FLJ23793, Nbla10388 uc002scz.3 Q6ULP2 OTTHUMG00000129539 ENST00000238856.4:c.2373A>G 2.__UNKNOWN__:g.64800181A>G D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4 __UNKNOWN__ CCDS1878.1 AFTPH-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000327302.1 + ENST00000238856.4 Silent SNP PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR CNTN2 6900 broad.mit.edu 37 1 205031578 205031578 + Missense_Mutation SNP A A T TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr1:205031578A>T ENST00000331830.4 + 10.0 1405 c.1121A>T c.(1120-1122)gAg>gTg p.E374V NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 374.0 Ig-like C2-type 4. adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076) carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802) 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) 54.0 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) AACCGGGTGGAGGTGTTGGCT 0.622 Melanoma(183;2548 2817 37099 41192) 0 84.0 76.0 79.0 1 205031578.0 2203.0 4300.0 6503.0 SO:0001583 missense X67734 CCDS1449.1 1q32.1 2013-02-11 ENSG00000184144 ENSG00000184144 6900.0 6900.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 2172.0 protein-coding gene gene with protein product 190197.0 TAX, AXT 8307567, 8586965 Standard NM_005076 NM_005076 Approved TAG-1, TAX1 uc001hbr.3 Q02246 OTTHUMG00000037105 ENST00000331830.4:c.1121A>T 1.__UNKNOWN__:g.205031578A>T ENSP00000330633:p.Glu374Val P78432|Q5T054 __UNKNOWN__ CCDS1449.1 . . . . . . . . . . A 27.6 4.846782 0.91277 . . ENSG00000184144 ENST00000331830 T 0.67698 -0.28 5.5 5.5 0.81552 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.51477 D 0.000098 T 0.61160 0.2325 N 0.16233 0.39 0.80722 D 1 P;P 0.44241 0.478;0.829 B;P 0.50378 0.444;0.639 T 0.60642 -0.7223 10 0.29301 T 0.29 . 15.2611 0.73625 1.0:0.0:0.0:0.0 . 374;265 Q02246;Q68DA2 CNTN2_HUMAN;. V 374 ENSP00000330633:E374V ENSP00000330633:E374V E + 2 0 CNTN2 203298201 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 6.787000 0.75099 2.091000 0.63221 0.528000 0.53228 GAG CNTN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090080.3 + ENST00000331830.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR AHCTF1 25909 broad.mit.edu 37 1 247014132 247014132 + Missense_Mutation SNP T T C TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr1:247014132T>C ENST00000366508.1 - 33.0 5417 c.5281A>G c.(5281-5283)Atg>Gtg p.M1761V AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.M1726V|AHCTF1_ENST00000326225.3_Missense_Mutation_p.M1735V Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1726.0 Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}. cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74.0 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CTGACATTCATAGTCATTGTG 0.413 Colon(145;197 1800 4745 15099 26333) 0 70.0 69.0 69.0 1 247014132.0 2203.0 4298.0 6501.0 SO:0001583 missense CCDS1629.1, CCDS1629.2 1q44 2008-09-09 ENSG00000153207 ENSG00000153207 25909.0 25909.0 24618.0 protein-coding gene gene with protein product """ELYS transcription factor like protein TMBS62""" 610853.0 11952839 Standard NM_015446 NM_015446 Approved ELYS uc001ibv.2 Q8WYP5 OTTHUMG00000040706 ENST00000366508.1:c.5281A>G 1.__UNKNOWN__:g.247014132T>C ENSP00000355464:p.Met1761Val A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6 __UNKNOWN__ . . . . . . . . . . T 0 -2.727340 0.00091 . . ENSG00000153207 ENST00000366508;ENST00000326225;ENST00000391829 T;T;T 0.23147 1.92;1.93;1.93 5.69 -5.59 0.02505 . 0.871026 0.10224 N 0.700501 T 0.05731 0.0150 N 0.01874 -0.695 0.09310 N 1 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.36040 -0.9764 10 0.10636 T 0.68 -0.6399 2.2187 0.03967 0.266:0.3647:0.0938:0.2754 . 587;1761;1726 B3KTD2;Q8WYP5-2;Q8WYP5 .;.;ELYS_HUMAN V 1761;1735;1726 ENSP00000355464:M1761V;ENSP00000355465:M1735V;ENSP00000375705:M1726V ENSP00000355465:M1735V M - 1 0 AHCTF1 245080755 0.000000 0.05858 0.000000 0.03702 0.044000 0.14063 -2.006000 0.01459 -0.704000 0.05042 -0.530000 0.04314 ATG AHCTF1-001 NOVEL basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000097817.1 - ENST00000366508.1 Missense_Mutation SNP PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR GNB3 2784 broad.mit.edu 37 12 6954872 6954872 + Silent SNP G G T TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr12:6954872G>T ENST00000229264.3 + 10.0 1227 c.822G>T c.(820-822)acG>acT p.T274T GNB3_ENST00000435982.2_Silent_p.T273T|CDCA3_ENST00000604599.1_5'UTR|CDCA3_ENST00000422785.3_3'UTR NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 274.0 cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886) GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871) cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20.0 GCGGCATCACGTCCGTGGCCT 0.592 0 178.0 165.0 170.0 12 6954872.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS8564.1, CCDS73427.1 12p13 2013-01-10 ENSG00000111664 ENSG00000111664 2784.0 2784.0 """WD repeat domain containing""" 4400.0 protein-coding gene gene with protein product 139130.0 11770079, 16600389 Standard NM_002075 XM_005253680 Approved uc001qrd.3 P16520 OTTHUMG00000168517 ENST00000229264.3:c.822G>T 12.__UNKNOWN__:g.6954872G>T Q96B71|Q9BQC0 __UNKNOWN__ CCDS8564.1 GNB3-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000400006.1 + ENST00000229264.3 Silent SNP PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR ORC3 23595 broad.mit.edu 37 6 88313156 88313156 + Missense_Mutation SNP C C A TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr6:88313156C>A ENST00000257789.4 + 4.0 266 c.232C>A c.(232-234)Caa>Aaa p.Q78K ORC3_ENST00000417380.2_Missense_Mutation_p.Q25K|ORC3_ENST00000546266.1_5'UTR|ORC3_ENST00000392844.3_Missense_Mutation_p.Q78K Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 78.0 DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351) nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808) DNA replication origin binding (GO:0003688) 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) 28.0 TGAATTTCTGCAAAAATCACA 0.318 0 66.0 67.0 67.0 6 88313156.0 2203.0 4300.0 6503.0 SO:0001583 missense AF093535 CCDS5012.1, CCDS43486.1, CCDS56440.1 6q 2010-10-12 2010-10-12 2010-10-12 ENSG00000135336 ENSG00000135336 23595.0 23595.0 8489.0 protein-coding gene gene with protein product 604972.0 """origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)""" ORC3L 9829972, 10402192 Standard NM_181837 Approved IMAGE50150, LATHEO uc003pmg.3 Q9UBD5 OTTHUMG00000015179 ENST00000257789.4:c.232C>A 6.__UNKNOWN__:g.88313156C>A ENSP00000257789:p.Gln78Lys A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6 __UNKNOWN__ CCDS5012.1 . . . . . . . . . . C 0.010 -1.749608 0.00669 . . ENSG00000135336 ENST00000392844;ENST00000257789;ENST00000417380 T;T;T 0.12465 2.68;2.68;2.68 5.66 1.76 0.24704 . 0.454150 0.25561 N 0.029836 T 0.02610 0.0079 L 0.50333 1.59 0.80722 D 1 B;B;B;B;B 0.06786 0.0;0.0;0.001;0.0;0.0 B;B;B;B;B 0.09377 0.003;0.003;0.004;0.002;0.001 T 0.41052 -0.9530 10 0.02654 T 1 -3.5721 3.861 0.08996 0.4793:0.322:0.1166:0.0821 . 78;78;78;78;78 B7ZAI3;B7Z8A5;B4E014;Q9UBD5;Q9UBD5-2 .;.;.;ORC3_HUMAN;. K 78;78;25 ENSP00000376586:Q78K;ENSP00000257789:Q78K;ENSP00000390176:Q25K ENSP00000257789:Q78K Q + 1 0 ORC3 88369875 1.000000 0.71417 0.862000 0.33874 0.020000 0.10135 2.792000 0.47837 0.762000 0.33152 -1.079000 0.02226 CAA ORC3-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000286374.1 + ENST00000257789.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR ABCA13 154664 broad.mit.edu 37 7 48258974 48258974 + Missense_Mutation SNP C C T TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr7:48258974C>T ENST00000435803.1 + 4.0 335 c.311C>T c.(310-312)gCt>gTt p.A104V NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 104.0 transport (GO:0006810) integral component of membrane (GO:0016021) ATP binding (GO:0005524)|ATPase activity (GO:0016887) 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) 270.0 CAAACTGCAGCTGACCCCAAG 0.353 0 51.0 50.0 50.0 7 48258974.0 1811.0 4079.0 5890.0 SO:0001583 missense AY204751 CCDS47584.1 7p12.3 2012-03-14 ENSG00000179869 ENSG00000179869 154664.0 154664.0 """ATP binding cassette transporters / subfamily A""" 14638.0 protein-coding gene gene with protein product 607807.0 12697998 Standard NM_152701 NM_152701 Approved FLJ33876, FLJ33951 uc003toq.2 Q86UQ4 OTTHUMG00000155840 ENST00000435803.1:c.311C>T 7.__UNKNOWN__:g.48258974C>T ENSP00000411096:p.Ala104Val K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248 __UNKNOWN__ CCDS47584.1 . . . . . . . . . . C 15.94 2.980780 0.53827 . . ENSG00000179869 ENST00000435803 T 0.30448 1.53 5.58 -0.495 0.12030 . 0.948002 0.08702 N 0.906327 T 0.20333 0.0489 L 0.40543 1.245 0.09310 N 1 B;B 0.28850 0.144;0.225 B;B 0.30316 0.053;0.114 T 0.31806 -0.9930 10 0.37606 T 0.19 . 1.1013 0.01684 0.3659:0.3186:0.1385:0.177 . 104;104 Q86UQ4;Q86UQ4-2 ABCAD_HUMAN;. V 104 ENSP00000411096:A104V ENSP00000409268:A104V A + 2 0 ABCA13 48229520 0.000000 0.05858 0.001000 0.08648 0.452000 0.32318 0.024000 0.13555 0.080000 0.16959 0.655000 0.94253 GCT ABCA13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000341964.2 + ENST00000435803.1 Missense_Mutation SNP PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR MYT1L 23040 broad.mit.edu 37 2 1914113 1914113 + Silent SNP G G A rs61743488 by1000genomes TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr2:1914113G>A ENST00000428368.2 - 13.0 2379 c.1710C>T c.(1708-1710)tcC>tcT p.S570S MYT1L_ENST00000399161.2_Silent_p.S572S Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 572.0 cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) 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) 97.0 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) TCGGGCATCCGGAGAGGCTGC 0.587 G 6.0 0.0027 0.01 2184.0 0.9999 , , 0.0003 0.0028 0.9767 LOWCOV,EXOME 0.0009 SNP 0 G 52,4020 0,52,1984 49.0 56.0 53.0 1710 -1.5 1.0 2 dbSNP_129 53.0 0,8360 0,0,4180 no coding-synonymous MYT1L NM_015025.2 0,52,6164 AA,AG,GG 0.0,1.277,0.4183 570/1185 1914113.0 52,12380 2036.0 4180.0 6216.0 SO:0001819 synonymous_variant AF036943 CCDS46222.1 2p25.3 2013-01-10 ENSG00000186487 ENSG00000186487 23040.0 23040.0 """Zinc fingers, C2HC-type containing""" 7623.0 protein-coding gene gene with protein product """neural zinc finger transcription factor 1""" 613084.0 9373037 Standard NM_015025 XM_006711862 Approved KIAA1106, NZF1, ZC2HC4B uc002qxd.3 Q9UL68 OTTHUMG00000151407 ENST00000428368.2:c.1710C>T 2.__UNKNOWN__:g.1914113G>A A7E2C7|B2RP54|Q6IQ17|Q9UPP6 __UNKNOWN__ CCDS46222.1 MYT1L-013 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000377210.1 - ENST00000428368.2 Silent SNP PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR NF1 4763 broad.mit.edu 37 17 29541548 29541549 + Frame_Shift_Ins INS - - TT TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr17:29541548_29541549insTT ENST00000358273.4 + 13.0 1855_1856 c.1472_1473insTT c.(1471-1476)tatcttfs p.L492fs NF1_ENST00000431387.4_Frame_Shift_Ins_p.L492fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.L492fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 492.0 actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060) axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634) phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099) p.0?(8)|p.?(5) 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) 599.0 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) AGCTATAAGTATCTTCTCTTGT 0.297 """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) yes Rec yes Neurofibromatosis type 1 17 17q12 4763.0 neurofibromatosis type 1 gene O 13 Whole gene deletion(8)|Unknown(5) soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1) GRCh37 CM000781 NF1 M SO:0001589 frameshift_variant Familial Cancer Database NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome CCDS11264.1, CCDS42292.1, CCDS45645.1 17q11.2 2014-09-17 2008-07-31 ENSG00000196712 ENSG00000196712 4763.0 4763.0 7765.0 protein-coding gene gene with protein product """neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease""" 613113.0 1715669 Standard NM_000267 NM_000267 Approved uc002hgg.3 P21359 OTTHUMG00000132871 Exception_encountered 17.__UNKNOWN__:g.29541548_29541549insTT ENSP00000351015:p.Leu492fs O00662|Q14284|Q14930|Q14931|Q9UMK3 __UNKNOWN__ CCDS42292.1 NF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256351.2 + ENST00000358273.4 Frame_Shift_Ins INS PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR MN1 4330 bcgsc.ca 37 22 28192973 28192973 + Missense_Mutation SNP C C T TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr22:28192973C>T ENST00000302326.4 - 1.0 4513 c.3559G>A c.(3559-3561)Gtc>Atc p.V1187I NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 1187.0 intramembranous ossification (GO:0001957) NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45.0 GAGGCCCCGACGGCGCACTCA 0.642 T ETV6 """AML, meningioma""" Dom yes 22 22q13 4330.0 meningioma (disrupted in balanced translocation) 1 """L, O""" 0 19.0 21.0 20.0 22 28192973.0 2099.0 4215.0 6314.0 SO:0001583 missense X82209 CCDS42998.1 22q12.1 2010-09-29 ENSG00000169184 ENSG00000169184 4330.0 4330.0 7180.0 protein-coding gene gene with protein product """probable tumor suppressor protein MN1""" 156100 """meningioma chromosome region""" MGCR 7731706, 12569362 Standard NM_002430 NM_002430 Approved MGCR1-PEN, MGCR1 uc003adj.3 Q10571 OTTHUMG00000150975 ENST00000302326.4:c.3559G>A 22.__UNKNOWN__:g.28192973C>T ENSP00000304956:p.Val1187Ile A9Z1V9 __UNKNOWN__ CCDS42998.1 . . . . . . . . . . C 14.42 2.530293 0.45073 . . ENSG00000169184 ENST00000302326 T 0.48201 0.82 5.04 4.02 0.46733 . 0.000000 0.33834 N 0.004516 T 0.27933 0.0688 N 0.08118 0 0.23506 N 0.997534 B 0.02656 0.0 B 0.04013 0.001 T 0.17501 -1.0367 10 0.40728 T 0.16 -15.8012 12.5612 0.56281 0.0:0.9198:0.0:0.0802 . 1187 Q10571 MN1_HUMAN I 1187 ENSP00000304956:V1187I ENSP00000304956:V1187I V - 1 0 MN1 26522973 0.830000 0.29337 0.855000 0.33649 0.969000 0.65631 3.492000 0.53259 1.132000 0.42129 0.456000 0.33151 GTC MN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320737.1 - ENST00000302326.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR EXOC3L2 90332 ucsc.edu 37 19 45735029 45735029 + Missense_Mutation SNP C C A TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr19:45735029C>A ENST00000252482.3 - 1.0 109 c.82G>T c.(82-84)Gat>Tat p.D28Y EXOC3L2_ENST00000413988.1_Missense_Mutation_p.D28Y Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 28.0 exocytosis (GO:0006887) exocyst (GO:0000145) endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12.0 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) ACCTTAACATCTGTGACGCAT 0.607 0 76.0 62.0 67.0 19 45735029.0 2203.0 4300.0 6503.0 SO:0001583 missense AK093466 CCDS12657.1 19q13.32 2011-07-07 ENSG00000130201 ENSG00000130201 90332.0 90332.0 30162.0 protein-coding gene gene with protein product 21566143 Standard NM_138568 NM_138568 Approved FLJ36147, XTP7 uc002pay.1 Q2M3D2 OTTHUMG00000155018 ENST00000252482.3:c.82G>T 19.__UNKNOWN__:g.45735029C>A ENSP00000252482:p.Asp28Tyr Q8N9W2|Q96GV2 __UNKNOWN__ CCDS12657.1 . . . . . . . . . . C 20.7 4.030289 0.75504 . . ENSG00000130201 ENST00000252482;ENST00000413988 T;T 0.06294 3.32;3.32 5.49 5.49 0.81192 . 0.167577 0.39341 N 0.001392 T 0.11965 0.0291 L 0.51422 1.61 0.35327 D 0.785293 D 0.56287 0.975 P 0.55011 0.766 T 0.02781 -1.1111 10 0.02654 T 1 . 14.8465 0.70264 0.0:1.0:0.0:0.0 . 28 Q2M3D2 EX3L2_HUMAN Y 28 ENSP00000252482:D28Y;ENSP00000400713:D28Y ENSP00000252482:D28Y D - 1 0 EXOC3L2 50426869 0.990000 0.36364 0.998000 0.56505 0.893000 0.52053 1.976000 0.40579 2.576000 0.86940 0.557000 0.71058 GAT EXOC3L2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000338073.1 - ENST00000252482.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR IFT140 9742 ucsc.edu 37 16 1612069 1612069 + Silent SNP G G A TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr16:1612069G>A ENST00000426508.2 - 18.0 2479 c.2116C>T c.(2116-2118)Ctg>Ttg p.L706L IFT140_ENST00000439987.2_5'UTR NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 706.0 cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705) axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53.0 Hepatocellular(780;0.219) TCATGAAGCAGGAAGCCGTGC 0.458 0 71.0 71.0 71.0 16 1612069.0 2199.0 4300.0 6499.0 SO:0001819 synonymous_variant AB011162 CCDS10439.1 16p13.3 2014-07-03 2014-07-03 2005-11-02 ENSG00000187535 ENSG00000187535 9742.0 9742.0 """Intraflagellar transport homologs"", ""WD repeat domain containing""" 29077.0 protein-coding gene gene with protein product 614620 """WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)""" WDTC2 9628581 Standard NM_014714 NM_014714 Approved gs114, KIAA0590 uc002cmb.3 Q96RY7 OTTHUMG00000128585 ENST00000426508.2:c.2116C>T 16.__UNKNOWN__:g.1612069G>A A2A2A8|D3DU75|O60332|Q9UG52 __UNKNOWN__ CCDS10439.1 IFT140-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250438.2 - ENST00000426508.2 Silent SNP PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR MINPP1 9562 ucsc.edu 37 10 89264772 89264772 + Missense_Mutation SNP G G A TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr10:89264772G>A ENST00000371996.4 + 1.0 141 c.100G>A c.(100-102)Gag>Aag p.E34K MINPP1_ENST00000371994.4_Missense_Mutation_p.E34K NM_004897.4 NP_004888.2 Q9UNW1 MINP1_HUMAN multiple inositol-polyphosphate phosphatase 1 34.0 bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062) acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2) 5.0 Colorectal(252;0.122) UCEC - Uterine corpus endometrioid carcinoma (6;0.00123) CTCTCTTCTAGAGCCGAGGGA 0.697 0 19.0 21.0 20.0 10 89264772.0 2202.0 4288.0 6490.0 SO:0001583 missense AF046915 CCDS7384.1, CCDS53551.1, CCDS53552.1 10q23 2010-05-04 2010-05-04 ENSG00000107789 ENSG00000107789 9562.0 3.1.3.62 7102.0 protein-coding gene gene with protein product 605391 """multiple inositol polyphosphate histidine phosphatase, 1""" 10087200 Standard NM_004897 Approved MIPP uc001keu.3 Q9UNW1 OTTHUMG00000018678 ENST00000371996.4:c.100G>A 10.__UNKNOWN__:g.89264772G>A ENSP00000361064:p.Glu34Lys F5H683|O95172|O95286|Q59EJ2|Q9UGA3 __UNKNOWN__ CCDS7384.1 . . . . . . . . . . G 12.52 1.963389 0.34659 . . ENSG00000107789 ENST00000371996;ENST00000371994 T;T 0.76839 -1.02;-1.05 4.21 4.21 0.49690 . 1.031410 0.07649 N 0.931653 T 0.63498 0.2516 N 0.19112 0.55 0.80722 D 1 B;B 0.34290 0.447;0.079 B;B 0.34931 0.192;0.047 T 0.52102 -0.8620 10 0.06099 T 0.92 -4.9993 12.247 0.54576 0.0:0.0:1.0:0.0 . 34;34 Q9UNW1-2;Q9UNW1 .;MINP1_HUMAN K 34 ENSP00000361064:E34K;ENSP00000361062:E34K ENSP00000361062:E34K E + 1 0 MINPP1 89254752 0.998000 0.40836 0.995000 0.50966 0.106000 0.19336 2.796000 0.47869 2.320000 0.78422 0.563000 0.77884 GAG MINPP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049221.1 + ENST00000371996.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WM-Normal-SM-5EMNR LIG1 3978 broad.mit.edu 37 19 48621002 48621002 + Missense_Mutation SNP T T G TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr19:48621002T>G ENST00000263274.7 - 26.0 2895 c.2476A>C c.(2476-2478)Ata>Cta p.I826L LIG1_ENST00000427526.2_Missense_Mutation_p.I795L|LIG1_ENST00000536218.1_Missense_Mutation_p.I758L NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 826.0 anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283) chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872) breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44.0 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) GCGCCATCTATCCGCACGTAA 0.617 Nucleotide excision repair (NER) 0 37.0 32.0 34.0 19 48621002.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS12711.1, CCDS74409.1, CCDS74410.1 19q13.2-q13.3 2014-09-17 ENSG00000105486 3978.0 3978.0 6.5.1.1 6598.0 protein-coding gene gene with protein product 126391.0 Standard NM_000234 XM_005258934 Approved uc002pia.1 P18858 ENST00000263274.7:c.2476A>C 19.__UNKNOWN__:g.48621002T>G ENSP00000263274:p.Ile826Leu B2RAI8|Q2TB12|Q32P23 __UNKNOWN__ CCDS12711.1 . . . . . . . . . . T 4.090 0.014701 0.07959 . . ENSG00000105486 ENST00000263274;ENST00000427526;ENST00000536218 T;T;T 0.62364 0.03;0.03;0.03 4.71 -2.16 0.07080 DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1); 1.608320 0.03396 N 0.202547 T 0.36220 0.0959 N 0.10664 0.02 0.19575 N 0.999969 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.06405 0.002;0.001;0.002 T 0.10917 -1.0609 10 0.18710 T 0.47 0.0013 3.5094 0.07703 0.2616:0.293:0.0:0.4454 . 795;758;826 B4DTU4;F5GZ28;P18858 .;.;DNLI1_HUMAN L 826;795;758 ENSP00000263274:I826L;ENSP00000442841:I795L;ENSP00000441531:I758L ENSP00000263274:I826L I - 1 0 LIG1 53312814 0.983000 0.35010 0.008000 0.14137 0.091000 0.18340 1.811000 0.38942 -0.154000 0.11118 0.459000 0.35465 ATA LIG1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465575.1 - ENST00000263274.7 Missense_Mutation SNP PCPG-TCGA-S7-A7WN-Normal-SM-5EMM5 ABCC6 368 broad.mit.edu 37 16 16248531 16248531 + Missense_Mutation SNP G G A TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr16:16248531G>A ENST00000205557.7 - 29.0 4191 c.4162C>T c.(4162-4164)Ccc>Tcc p.P1388S NM_001171.5 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 1388.0 ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}. response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43.0 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570) AGCTGGCCGGGCAGGCTGGCC 0.652 0 32.0 29.0 30.0 16 16248531.0 2197.0 4298.0 6495.0 SO:0001583 missense AF076622 CCDS10568.1, CCDS58430.1 16p13.11 2013-01-08 ENSG00000091262 ENSG00000091262 368.0 368.0 """ATP binding cassette transporters / subfamily C""" 57.0 protein-coding gene gene with protein product 603234.0 """pseudoxanthoma elasticum""" ARA, PXE 9721217, 11439001 Standard NM_001079528 Approved MRP6, EST349056, MLP1, URG7 uc002den.4 O95255 OTTHUMG00000129967 ENST00000205557.7:c.4162C>T 16.__UNKNOWN__:g.16248531G>A ENSP00000205557:p.Pro1388Ser A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7 __UNKNOWN__ CCDS10568.1 . . . . . . . . . . G 22.0 4.233350 0.79688 . . ENSG00000091262 ENST00000205557;ENST00000205558 D 0.92099 -2.97 4.59 3.61 0.41365 ATPase, AAA+ type, core (1);ABC transporter-like (2); 0.000000 0.46758 U 0.000262 D 0.94036 0.8089 L 0.49350 1.555 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.93615 0.6942 10 0.59425 D 0.04 . 12.7545 0.57325 0.0833:0.0:0.9167:0.0 . 1388;1388 O95255;A8Y988 MRP6_HUMAN;. S 1388;326 ENSP00000205557:P1388S ENSP00000205557:P1388S P - 1 0 ABCC6 16156032 1.000000 0.71417 0.994000 0.49952 0.956000 0.61745 7.890000 0.87313 0.887000 0.36136 0.465000 0.42564 CCC ABCC6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252232.2 - ENST00000205557.7 Missense_Mutation SNP PCPG-TCGA-S7-A7WN-Normal-SM-5EMM5 LYST 1130 broad.mit.edu 37 1 235929422 235929422 + Nonsense_Mutation SNP G G T rs80338660 TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr1:235929422G>T ENST00000389794.3 - 21.0 6252 c.6078C>A c.(6076-6078)taC>taA p.Y2026* LYST_ENST00000389793.2_Nonsense_Mutation_p.Y2026*|LYST_ENST00000536965.1_3'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 2026.0 blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456) cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630) 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) 162.0 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) TGTGACAAACGTAAGTATTAG 0.343 0 GRCh37 CM021561 LYST M rs80338660 190.0 206.0 200.0 1 235929422.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained U70064 CCDS31062.1 1q42.1-q42.2 2014-09-17 2004-12-09 2004-12-10 ENSG00000143669 ENSG00000143669 1130.0 1130.0 """WD repeat domain containing""" 1968.0 protein-coding gene gene with protein product 606897.0 """Chediak-Higashi syndrome 1""" CHS1 8717042, 8896560 Standard NM_000081 Approved CHS uc001hxj.3 Q99698 OTTHUMG00000040527 ENST00000389794.3:c.6078C>A 1.__UNKNOWN__:g.235929422G>T ENSP00000374444:p.Tyr2026* O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133 __UNKNOWN__ CCDS31062.1 . . . . . . . . . . G 46 12.130242 0.99639 . . ENSG00000143669 ENST00000389794;ENST00000389793 . . . 5.14 -4.24 0.03777 . 0.056130 0.64402 D 0.000001 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 15.7357 0.77842 0.8832:0.0:0.1168:0.0 . . . . X 2026 . ENSP00000374443:Y2026X Y - 3 2 LYST 233996045 0.501000 0.26099 0.974000 0.42286 0.993000 0.82548 -0.245000 0.08890 -0.604000 0.05760 -0.224000 0.12420 TAC LYST-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097533.5 - ENST00000389794.3 Nonsense_Mutation SNP PCPG-TCGA-S7-A7WN-Normal-SM-5EMM5 NFKB1 4790 broad.mit.edu 37 4 103516122 103516122 + Silent SNP T T C TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr4:103516122T>C ENST00000226574.4 + 13.0 1751 c.1284T>C c.(1282-1284)aaT>aaC p.N428N NFKB1_ENST00000505458.1_Silent_p.N427N|NFKB1_ENST00000394820.4_Silent_p.N427N|NFKB1_ENST00000600343.1_Silent_p.N247N NM_001165412.1|NM_003998.3 NP_001158884.1|NP_003989.2 P19838 NFKB1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 427.0 Gly-rich. apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976) biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27.0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814) CTAAATCTAATGCTGGGATGA 0.333 0 111.0 102.0 105.0 4 103516122.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant M58603 CCDS3657.1, CCDS54783.1 4q24 2013-01-10 2008-07-28 ENSG00000109320 ENSG00000109320 4790.0 4790.0 """Ankyrin repeat domain containing""" 7794.0 protein-coding gene gene with protein product 164011.0 1992489 Standard NM_003998 Approved KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1 uc011cep.2 P19838 OTTHUMG00000161080 ENST00000226574.4:c.1284T>C 4.__UNKNOWN__:g.103516122T>C A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0 __UNKNOWN__ CCDS3657.1 NFKB1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000253801.1 + ENST00000226574.4 Silent SNP PCPG-TCGA-S7-A7WN-Normal-SM-5EMM5 ITGA10 8515 broad.mit.edu 37 1 145532464 145532464 + Missense_Mutation SNP G G C TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr1:145532464G>C ENST00000369304.3 + 9.0 1092 c.917G>C c.(916-918)gGt>gCt p.G306A ITGA10_ENST00000538811.1_Missense_Mutation_p.G175A|ITGA10_ENST00000539363.1_Missense_Mutation_p.G163A|ITGA10_ENST00000481236.1_3'UTR NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 306.0 VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}. axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229) integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886) collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872) 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) 59.0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TAGGTCCTTGGTCACTACCTC 0.458 0 114.0 108.0 110.0 1 145532464.0 2203.0 4300.0 6503.0 SO:0001583 missense AF074015 CCDS72869.1 1q21.1 2010-03-23 ENSG00000143127 ENSG00000143127 8515.0 8515.0 """Integrins""" 6135.0 protein-coding gene gene with protein product 604042.0 9685391, 10702680 Standard NM_003637 NM_003637 Approved uc001eoa.3 O75578 OTTHUMG00000013751 ENST00000369304.3:c.917G>C 1.__UNKNOWN__:g.145532464G>C ENSP00000358310:p.Gly306Ala B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8 __UNKNOWN__ CCDS918.1 . . . . . . . . . . G 19.85 3.904494 0.72868 . . ENSG00000143127 ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811 T;T;T 0.55052 0.54;0.54;0.54 5.12 4.14 0.48551 von Willebrand factor, type A (3); 0.133937 0.49305 D 0.000143 T 0.65428 0.2690 M 0.77486 2.375 0.53688 D 0.999977 D;D;D;D 0.71674 0.998;0.998;0.96;0.997 D;D;D;D 0.78314 0.991;0.991;0.942;0.985 T 0.69285 -0.5185 10 0.87932 D 0 . 12.4167 0.55498 0.0:0.0:0.8314:0.1686 . 272;175;163;306 F5H3T9;F5GY13;B2RTV5;O75578 .;.;.;ITA10_HUMAN A 306;272;163;175 ENSP00000358310:G306A;ENSP00000439894:G163A;ENSP00000440011:G175A ENSP00000358310:G306A G + 2 0 ITGA10 144243821 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 7.240000 0.78192 2.573000 0.86826 0.561000 0.74099 GGT ITGA10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000038537.2 + ENST00000369304.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WN-Normal-SM-5EMM5 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr11:533874T>C ENST00000451590.1 - 3.0 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R NM_001130442.1|NM_005343.2 NP_001123914.1|NP_005334.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61.0 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022) p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901.0 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6.0 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) yes Dom yes Costello syndrome 11 11p15.5 3265.0 v-Ha-ras Harvey rat sarcoma viral oncogene homolog """E, L, M""" 256 Substitution - Missense(256) skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1) 117.0 102.0 107.0 11 533874.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Facio-Cutaneous-Skeletal syndrome AJ437024 CCDS7698.1, CCDS7699.1 11p15.5 2014-09-17 2013-07-08 ENSG00000174775 ENSG00000174775 3265.0 3265.0 5173.0 protein-coding gene gene with protein product 190020.0 """v-Ha-ras Harvey rat sarcoma viral oncogene homolog""" HRAS1 Standard NM_176795 NM_176795 Approved uc010qvx.2 P01112 OTTHUMG00000131919 ENST00000451590.1:c.182A>G 11.__UNKNOWN__:g.533874T>C ENSP00000407586:p.Gln61Arg B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2 __UNKNOWN__ CCDS7698.1 . . . . . . . . . . T 14.48 2.546606 0.45383 . . ENSG00000174775 ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189 D;D;D;D;D 0.83673 -1.75;-1.75;-1.75;-1.75;-1.75 3.64 3.64 0.41730 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85613 0.5737 M 0.90870 3.155 0.80722 D 1 B;B 0.21071 0.051;0.008 B;B 0.22152 0.022;0.038 D 0.85970 0.1476 10 0.66056 D 0.02 . 11.8872 0.52608 0.0:0.0:0.0:1.0 . 61;61 P01112-2;P01112 .;RASH_HUMAN R 61 ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R ENSP00000309845:Q61R Q - 2 0 HRAS 523874 1.000000 0.71417 0.985000 0.45067 0.482000 0.33219 7.727000 0.84838 1.662000 0.50781 0.459000 0.35465 CAG HRAS-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259403.2 - ENST00000451590.1 Missense_Mutation SNP PCPG-TCGA-S7-A7WN-Normal-SM-5EMM5 ADAMTS7 11173 broad.mit.edu 37 15 79059040 79059040 + Silent SNP A A G rs144043775 by1000genomes TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr15:79059040A>G ENST00000388820.4 - 19.0 3423 c.3213T>C c.(3211-3213)aaT>aaC p.N1071N NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1071.0 cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603) cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) p.N1071N(2)|p.N1071S(2) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54.0 CCTCGTGGAAATTGATGAAAT 0.617 4 Substitution - Missense(2)|Substitution - coding silent(2) lung(2)|kidney(2) SO:0001819 synonymous_variant AF140675 CCDS32303.1 15q25.1 2012-05-16 2005-08-19 ENSG00000136378 ENSG00000136378 11173.0 11173.0 """ADAM metallopeptidases with thrombospondin type 1 motif""" 223.0 protein-coding gene gene with protein product """COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein""" 605009.0 """a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7""" 10464288 Standard NM_014272 NM_014272 Approved ADAM-TS7, DKFZp434H204 uc002bej.4 Q9UKP4 OTTHUMG00000172907 ENST00000388820.4:c.3213T>C 15.__UNKNOWN__:g.79059040A>G Q14F51|Q6P7J9 __UNKNOWN__ CCDS32303.1 ADAMTS7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000421331.1 - ENST00000388820.4 Silent SNP PCPG-TCGA-S7-A7WN-Normal-SM-5EMM5 HSPA2 3306 broad.mit.edu 37 14 65007789 65007789 + Silent SNP G G A TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr14:65007789G>A ENST00000394709.1 + 2.0 298 c.222G>A c.(220-222)ctG>ctA p.L74L HSPA2_ENST00000554883.1_Intron|HSPA2_ENST00000247207.6_Silent_p.L74L P54652 HSP72_HUMAN heat shock 70kDa protein 2 74.0 male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194) blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795) ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082) breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22.0 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) CCAAGAGGCTGATTGGACGGA 0.597 Pancreas(136;1211 1835 24894 31984 38227) 0 102.0 83.0 90.0 14 65007789.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant L26336, BC001752 CCDS9766.1 14q23 2012-10-02 2002-08-29 ENSG00000126803 ENSG00000126803 3306.0 3306.0 """Heat shock proteins / HSP70""" 5235.0 protein-coding gene gene with protein product 140560.0 """heat shock 70kD protein 2""" Standard NM_021979 Approved uc001xhk.4 P54652 OTTHUMG00000141311 ENST00000394709.1:c.222G>A 14.__UNKNOWN__:g.65007789G>A Q15508|Q53XM3|Q9UE78 __UNKNOWN__ CCDS9766.1 HSPA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000280651.1 + ENST00000394709.1 Silent SNP PCPG-TCGA-S7-A7WN-Normal-SM-5EMM5 DGAT1 8694 broad.mit.edu 37 8 145541987 145541987 + Missense_Mutation SNP A A G TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr8:145541987A>G ENST00000332324.4 - 7.0 886 c.613T>C c.(613-615)Ttc>Ctc p.F205L DGAT1_ENST00000531896.1_Missense_Mutation_p.F205L NM_012079.4 NP_036211.2 O75907 DGAT1_HUMAN diacylglycerol O-acyltransferase 1 205.0 acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9.0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) AGCTTGAGGAAGAGGATGGTG 0.692 0 36.0 35.0 35.0 8 145541987.0 2203.0 4295.0 6498.0 SO:0001583 missense AF059202 CCDS6420.1 8q24.3 2014-05-06 2010-06-24 2001-11-09 ENSG00000185000 ENSG00000185000 8694.0 8694.0 2.3.1.20 2843.0 protein-coding gene gene with protein product 604900.0 """diacylglycerol O-acyltransferase homolog 1 (mouse)""" 9756920 Standard NM_012079 NM_012079 Approved ARGP1, DGAT uc003zbv.3 O75907 OTTHUMG00000174606 ENST00000332324.4:c.613T>C 8.__UNKNOWN__:g.145541987A>G ENSP00000332258:p.Phe205Leu B2RWQ2|D3DWL6|Q96BB8 __UNKNOWN__ CCDS6420.1 . . . . . . . . . . A 28.6 4.936630 0.92458 . . ENSG00000185000 ENST00000332324;ENST00000526479;ENST00000531896 T 0.71461 -0.57 5.46 5.46 0.80206 . 0.000000 0.85682 D 0.000000 T 0.72431 0.3459 L 0.55017 1.72 0.58432 D 0.999998 P;B 0.48350 0.909;0.218 P;B 0.48524 0.58;0.125 T 0.75852 -0.3171 10 0.66056 D 0.02 -23.1006 13.4781 0.61320 1.0:0.0:0.0:0.0 . 205;205 E9PS80;O75907 .;DGAT1_HUMAN L 205 ENSP00000332258:F205L ENSP00000332258:F205L F - 1 0 DGAT1 145512795 1.000000 0.71417 1.000000 0.80357 0.831000 0.47069 4.024000 0.57218 2.072000 0.62099 0.454000 0.30748 TTC DGAT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000382059.3 - ENST00000332324.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WN-Normal-SM-5EMM5 ERCC8 1161 broad.mit.edu 37 5 60214156 60214156 + Missense_Mutation SNP G G A TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr5:60214156G>A ENST00000265038.5 - 4.0 377 c.335C>T c.(334-336)aCt>aTt p.T112I ERCC8_ENST00000543101.1_5'UTR|ERCC8_ENST00000426742.2_Missense_Mutation_p.T54I|AC104113.3_ENST00000457499.1_RNA NM_000082.3 NP_000073.1 Q13216 ERCC8_HUMAN excision repair cross-complementation group 8 112.0 cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283) Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234) protein complex binding (GO:0032403) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14.0 Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077) GAACATGCCAGTGTCATGAGG 0.348 0 129.0 123.0 125.0 5 60214156.0 2203.0 4299.0 6502.0 SO:0001583 missense U28413 CCDS3978.1 5q12.1 2014-09-17 2014-03-07 ENSG00000049167 ENSG00000049167 1161.0 1161.0 """WD repeat domain containing""" 3439.0 protein-coding gene gene with protein product 609412.0 """Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8""" CKN1 8596535 Standard NM_000082 NM_000082 Approved CSA uc003jsm.3 Q13216 OTTHUMG00000097741 ENST00000265038.5:c.335C>T 5.__UNKNOWN__:g.60214156G>A ENSP00000265038:p.Thr112Ile B2RB64|Q6FHX5|Q96GB9 __UNKNOWN__ CCDS3978.1 . . . . . . . . . . G 27.0 4.788523 0.90367 . . ENSG00000049167 ENST00000426742;ENST00000265038;ENST00000536596;ENST00000439176 T;T;T 0.81415 -1.49;-1.49;0.21 4.74 4.74 0.60224 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.000000 0.85682 D 0.000000 D 0.90232 0.6946 M 0.83852 2.665 0.80722 D 1 D;D 0.89917 0.999;1.0 D;D 0.78314 0.979;0.991 D 0.91120 0.4929 10 0.54805 T 0.06 -40.0204 17.9227 0.88972 0.0:0.0:1.0:0.0 . 112;112 Q13216-2;Q13216 .;ERCC8_HUMAN I 54;112;111;54 ENSP00000400110:T54I;ENSP00000265038:T112I;ENSP00000408344:T54I ENSP00000265038:T112I T - 2 0 ERCC8 60249913 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.327000 0.96396 2.465000 0.83290 0.655000 0.94253 ACT ERCC8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214971.2 - ENST00000265038.5 Missense_Mutation SNP PCPG-TCGA-S7-A7WN-Normal-SM-5EMM5 MYO5B 4645 broad.mit.edu 37 18 47421443 47421443 + Silent SNP C C T TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr18:47421443C>T ENST00000285039.7 - 22.0 3212 c.2913G>A c.(2911-2913)caG>caA p.Q971Q MYO5B_ENST00000324581.6_Silent_p.Q112Q NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 971.0 endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833) apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234) ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137) 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) 87.0 READ - Rectum adenocarcinoma(32;0.103) CACCTGGGCTCTGCTGGTAGT 0.587 0 64.0 65.0 65.0 18 47421443.0 2042.0 4195.0 6237.0 SO:0001819 synonymous_variant AB032945 CCDS42436.1 18q 2011-09-27 ENSG00000167306 ENSG00000167306 4645.0 4645.0 """Myosins / Myosin superfamily : Class V""" 7603.0 protein-coding gene gene with protein product 606540.0 8884266, 17462998 Standard NM_001080467 Approved KIAA1119 uc002leb.2 Q9ULV0 ENST00000285039.7:c.2913G>A 18.__UNKNOWN__:g.47421443C>T B0I1R3|Q0P656|Q9H6Y6 __UNKNOWN__ CCDS42436.1 MYO5B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000448515.2 - ENST00000285039.7 Silent SNP PCPG-TCGA-S7-A7WN-Normal-SM-5EMM5 MARCH5 54708 broad.mit.edu 37 10 94109245 94109245 + Missense_Mutation SNP G G A TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr10:94109245G>A ENST00000358935.2 + 4.0 841 c.509G>A c.(508-510)cGc>cAc p.R170H MARCH5_ENST00000467521.2_3'UTR NM_017824.4 NP_060294.1 Q9NX47 MARH5_HUMAN membrane-associated ring finger (C3HC4) 5 170.0 negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741) GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9.0 AGACTGTGGCGCAAATACTCG 0.373 0 138.0 138.0 138.0 10 94109245.0 2203.0 4300.0 6503.0 SO:0001583 missense BC015480 CCDS7420.1 10q23.32-q23.33 2013-01-09 2005-01-26 2005-01-27 ENSG00000198060 ENSG00000198060 54708.0 54708.0 """MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers""" 26025.0 protein-coding gene gene with protein product 610637.0 """ring finger protein 153""" RNF153 14722266 Standard NM_017824 XM_005269923 Approved FLJ20445, MARCH-V uc001khx.1 Q9NX47 OTTHUMG00000018757 ENST00000358935.2:c.509G>A 10.__UNKNOWN__:g.94109245G>A ENSP00000351813:p.Arg170His __UNKNOWN__ CCDS7420.1 . . . . . . . . . . G 19.96 3.923448 0.73213 . . ENSG00000198060 ENST00000358935 T 0.51325 0.71 6.02 5.11 0.69529 . 0.000000 0.85682 D 0.000000 T 0.45458 0.1343 L 0.58810 1.83 0.80722 D 1 B 0.32918 0.39 B 0.29942 0.109 T 0.46843 -0.9162 10 0.52906 T 0.07 -4.7559 15.6994 0.77533 0.0663:0.0:0.9337:0.0 . 170 Q9NX47 MARH5_HUMAN H 170 ENSP00000351813:R170H ENSP00000351813:R170H R + 2 0 MARCH5 94099225 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 5.754000 0.68743 2.865000 0.98341 0.655000 0.94253 CGC MARCH5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049388.1 + ENST00000358935.2 Missense_Mutation SNP PCPG-TCGA-S7-A7WN-Normal-SM-5EMM5 TP53BP1 7158 broad.mit.edu 37 15 43712934 43712934 + Splice_Site SNP C C G TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr15:43712934C>G ENST00000382039.3 - 20.0 4162 c.e20-1 TP53BP1_ENST00000263801.3_Splice_Site|TP53BP1_ENST00000382044.4_Splice_Site|TP53BP1_ENST00000450115.2_Splice_Site Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657) damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162) breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72.0 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) AGCTGTTTCTCTAAAGAGAGA 0.498 Other conserved DNA damage response genes 0 20.0 22.0 21.0 15 43712934.0 2158.0 4233.0 6391.0 SO:0001630 splice_region_variant U09477 CCDS10096.1, CCDS45250.1, CCDS45251.1 15q15-q21 2007-08-02 2007-08-02 ENSG00000067369 ENSG00000067369 7158.0 7158.0 11999.0 protein-coding gene gene with protein product 605230.0 """tumor protein p53-binding protein, 1""" 8016121, 9748285 Standard NM_005657 Approved 53BP1, p202 uc001zrr.4 Q12888 OTTHUMG00000059757 ENST00000382039.3:c.4101-1G>C 15.__UNKNOWN__:g.43712934C>G F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4 __UNKNOWN__ . . . . . . . . . . C 16.03 3.006239 0.54361 . . ENSG00000067369 ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115 . . . 5.32 5.32 0.75619 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 18.3811 0.90451 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . TP53BP1 41500226 1.000000 0.71417 1.000000 0.80357 0.970000 0.65996 5.699000 0.68310 2.648000 0.89879 0.650000 0.86243 . TP53BP1-004 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000132899.3 Intron - ENST00000382039.3 Splice_Site SNP PCPG-TCGA-S7-A7WN-Normal-SM-5EMM5 Unknown 729524 bcgsc.ca 37 13 19240562 19240562 + RNA SNP G G A TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr13:19240562G>A LINC00388 (54747 upstream) : LINC00387 (6404 downstream) CGCCGTGTACGCCGACTCGGG 0.597 0 SO:0001628 intergenic_variant 13.__UNKNOWN__:g.19240562G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-S7-A7WN-Normal-SM-5EMM5 Unknown 644627 bcgsc.ca 37 13 111415296 111415296 + RNA SNP G G A TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr13:111415296G>A ING1 (41875 upstream) : LINC00567 (46726 downstream) CGGCATGCTGGGGAACACTGT 0.453 0 SO:0001628 intergenic_variant 13.__UNKNOWN__:g.111415296G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-S7-A7WN-Normal-SM-5EMM5 SIGLEC9 27180 broad.mit.edu 37 19 51628487 51628487 + Missense_Mutation SNP G G A TCGA-S7-A7WO-01A-11D-A35I-08 TCGA-S7-A7WO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 751155ce-fde0-4b45-95ed-cdc7ff67e7e7 6b372fa4-36b7-4afc-a858-6e48fbea228c g.chr19:51628487G>A ENST00000440804.3 + 1.0 323 c.256G>A c.(256-258)Gag>Aag p.E86K SIGLEC9_ENST00000250360.3_Missense_Mutation_p.E86K NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 86.0 Ig-like V-type. cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166) integral component of plasma membrane (GO:0005887) carbohydrate binding (GO:0030246) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45.0 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) AGTGTGGGAGGAGACTCGGGA 0.572 0 108.0 97.0 101.0 19 51628487.0 2203.0 4300.0 6503.0 SO:0001583 missense AF135027 CCDS12825.1, CCDS56100.1 19q13.3-q13.4 2013-01-29 ENSG00000129450 ENSG00000129450 27180.0 27180.0 """Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 10878.0 protein-coding gene gene with protein product 605640.0 10903842 Standard NM_014441 NM_014441 Approved CD329 uc002pvu.3 Q9Y336 ENST00000440804.3:c.256G>A 19.__UNKNOWN__:g.51628487G>A ENSP00000413861:p.Glu86Lys Q6GTU4|Q9BYI9 __UNKNOWN__ CCDS56100.1 . . . . . . . . . . . 11.28 1.593326 0.28357 . . ENSG00000129450 ENST00000440804;ENST00000250360 T;T 0.65732 -0.17;-0.17 2.75 -1.23 0.09465 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.618732 0.13194 N 0.406475 T 0.52435 0.1734 L 0.53729 1.69 0.09310 N 1 P 0.38597 0.639 B 0.40009 0.316 T 0.45264 -0.9273 10 0.45353 T 0.12 . 5.8915 0.18915 0.4343:0.0:0.5657:0.0 . 86 Q9Y336 SIGL9_HUMAN K 86 ENSP00000413861:E86K;ENSP00000250360:E86K ENSP00000250360:E86K E + 1 0 SIGLEC9 56320299 0.000000 0.05858 0.000000 0.03702 0.015000 0.08874 0.210000 0.17455 -0.061000 0.13110 0.411000 0.27672 GAG SIGLEC9-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000464244.1 + ENST00000440804.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WO-Normal-SM-5EMLX ACRC 93953 broad.mit.edu 37 X 70823569 70823569 + Missense_Mutation SNP G G C TCGA-S7-A7WO-01A-11D-A35I-08 TCGA-S7-A7WO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 751155ce-fde0-4b45-95ed-cdc7ff67e7e7 6b372fa4-36b7-4afc-a858-6e48fbea228c g.chrX:70823569G>C ENST00000373695.1 + 7.0 979 c.442G>C c.(442-444)Gct>Cct p.A148P ACRC_ENST00000373696.3_Missense_Mutation_p.A148P Q96QF7 ACRC_HUMAN acidic repeat containing 148.0 Asp/Ser-rich. nucleus (GO:0005634) autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54.0 Renal(35;0.156) TGATTCAGAAGCTCCCGACGA 0.483 0 216.0 191.0 199.0 X 70823569.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ311392 CCDS35326.1 Xq13.1 2010-08-05 ENSG00000147174 ENSG00000147174 93953.0 93953.0 15805.0 protein-coding gene gene with protein product 300369.0 Standard NM_052957 Approved uc004eae.2 Q96QF7 OTTHUMG00000033327 ENST00000373695.1:c.442G>C X.__UNKNOWN__:g.70823569G>C ENSP00000362799:p.Ala148Pro B9EG62 __UNKNOWN__ CCDS35326.1 . . . . . . . . . . G 8.022 0.759850 0.15846 . . ENSG00000147174 ENST00000373696;ENST00000373695 T;T 0.44083 0.93;0.93 0.225 0.225 0.15325 . . . . . T 0.18800 0.0451 N 0.14661 0.345 0.09310 N 1 D 0.54964 0.969 B 0.34991 0.193 T 0.13442 -1.0509 8 0.59425 D 0.04 . . . . . 148 Q96QF7 ACRC_HUMAN P 148 ENSP00000362800:A148P;ENSP00000362799:A148P ENSP00000362799:A148P A + 1 0 ACRC 70740294 0.076000 0.21285 0.002000 0.10522 0.002000 0.02628 4.057000 0.57455 0.280000 0.22209 0.284000 0.19432 GCT ACRC-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000081856.1 + ENST00000373695.1 Missense_Mutation SNP PCPG-TCGA-S7-A7WO-Normal-SM-5EMLX SNTG2 54221 broad.mit.edu 37 2 1241771 1241771 + Silent SNP G G A TCGA-S7-A7WO-01A-11D-A35I-08 TCGA-S7-A7WO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 751155ce-fde0-4b45-95ed-cdc7ff67e7e7 6b372fa4-36b7-4afc-a858-6e48fbea228c g.chr2:1241771G>A ENST00000308624.5 + 10.0 960 c.831G>A c.(829-831)agG>agA p.R277R SNTG2_ENST00000407292.1_Silent_p.R150R NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 277.0 central nervous system development (GO:0007417) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013) PDZ domain binding (GO:0030165) 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) 52.0 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) CCAACATCAGGGAGCTGACAC 0.537 0 31.0 36.0 34.0 2 1241771.0 2190.0 4281.0 6471.0 SO:0001819 synonymous_variant AJ003029 CCDS46220.1 2p25 2008-05-23 ENSG00000172554 ENSG00000172554 54221.0 54221.0 13741.0 protein-coding gene gene with protein product 608715.0 10747910 Standard NM_018968 NM_018968 Approved SYN5, G2SYN uc002qwq.3 Q9NY99 OTTHUMG00000151370 ENST00000308624.5:c.831G>A 2.__UNKNOWN__:g.1241771G>A Q05AH5 __UNKNOWN__ CCDS46220.1 SNTG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000322454.1 + ENST00000308624.5 Silent SNP PCPG-TCGA-S7-A7WO-Normal-SM-5EMLX ZNF207 7756 broad.mit.edu 37 17 30677312 30677312 + Missense_Mutation SNP G G A TCGA-S7-A7WO-01A-11D-A35I-08 TCGA-S7-A7WO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 751155ce-fde0-4b45-95ed-cdc7ff67e7e7 6b372fa4-36b7-4afc-a858-6e48fbea228c g.chr17:30677312G>A ENST00000394670.4 + 1.0 177 c.8G>A c.(7-9)cGc>cAc p.R3H ZNF207_ENST00000321233.6_Missense_Mutation_p.R3H|ZNF207_ENST00000341711.6_Missense_Mutation_p.R3H|ZNF207_ENST00000577908.1_Missense_Mutation_p.R3H|ZNF207_ENST00000342555.6_5'UTR|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394673.2_Missense_Mutation_p.R3H NM_001098507.1 NP_001091977.1 O43670 ZN207_HUMAN zinc finger protein 207 0.0 Microtubule-binding region. attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355) kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634) DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10.0 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) GTTATGGGTCGCAAGAAGAAG 0.537 0 205.0 196.0 199.0 17 30677312.0 2203.0 4300.0 6503.0 SO:0001583 missense AF046001 CCDS11271.1, CCDS32614.1, CCDS42294.1 17q11.2 2008-07-10 ENSG00000010244 ENSG00000010244 7756.0 7756.0 """Zinc fingers, C2H2-type""" 12998.0 protein-coding gene gene with protein product 603428.0 9799612 Standard NM_001098507 Approved uc002hhj.4 O43670 OTTHUMG00000132810 ENST00000394670.4:c.8G>A 17.__UNKNOWN__:g.30677312G>A ENSP00000378165:p.Arg3His A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7 __UNKNOWN__ CCDS42294.1 . . . . . . . . . . G 26.5 4.741474 0.89573 . . ENSG00000010244 ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555 T;T;T;T 0.14391 2.51;2.51;2.51;2.51 5.3 5.3 0.74995 . 0.000000 0.85682 D 0.000000 T 0.41166 0.1147 M 0.80982 2.52 0.47737 D 0.9995 D;D;D;D 0.69078 0.997;0.997;0.997;0.997 D;D;D;D 0.74674 0.984;0.984;0.984;0.984 T 0.37454 -0.9705 10 0.87932 D 0 . 17.1425 0.86757 0.0:0.0:1.0:0.0 . 6;3;3;3 Q59G94;E1P660;O43670-2;O43670 .;.;.;ZN207_HUMAN H 3;3;6;3;3;3 ENSP00000378165:R3H;ENSP00000378168:R3H;ENSP00000322777:R3H;ENSP00000344913:R3H ENSP00000322777:R3H R + 2 0 ZNF207 27701425 1.000000 0.71417 1.000000 0.80357 0.982000 0.71751 7.189000 0.77747 2.470000 0.83445 0.655000 0.94253 CGC ZNF207-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256249.2 + ENST00000394670.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WO-Normal-SM-5EMLX TBC1D8 11138 broad.mit.edu 37 2 101624647 101624647 + Missense_Mutation SNP A A C TCGA-S7-A7WO-01A-11D-A35I-08 TCGA-S7-A7WO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 751155ce-fde0-4b45-95ed-cdc7ff67e7e7 6b372fa4-36b7-4afc-a858-6e48fbea228c g.chr2:101624647A>C ENST00000376840.4 - 20.0 3058 c.3059T>G c.(3058-3060)gTc>gGc p.V1020G TBC1D8_ENST00000409318.1_Missense_Mutation_p.V1035G|RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409038.1_Intron O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 1020.0 blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284) membrane (GO:0016020) calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097) breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32.0 CAGTGTGGTGACTGTGGCGAT 0.512 0 32.0 37.0 35.0 2 101624647.0 2088.0 4246.0 6334.0 SO:0001583 missense AB024057 CCDS46375.1 2q12.1 2011-11-30 ENSG00000204634 ENSG00000204634 11138.0 11138.0 17791.0 protein-coding gene gene with protein product """BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein""" 10373574 Standard NM_007063 NM_001102426 Approved HBLP1, VRP, AD3 uc010fiv.3 O95759 OTTHUMG00000153040 ENST00000376840.4:c.3059T>G 2.__UNKNOWN__:g.101624647A>C ENSP00000366036:p.Val1020Gly A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32 __UNKNOWN__ CCDS46375.1 . . . . . . . . . . A 18.00 3.525633 0.64860 . . ENSG00000204634 ENST00000376840;ENST00000409318 T;T 0.05199 3.48;3.49 5.29 5.29 0.74685 . 0.000000 0.53938 D 0.000041 T 0.27205 0.0667 M 0.81341 2.54 0.80722 D 1 D 0.89917 1.0 D 0.80764 0.994 T 0.02251 -1.1188 10 0.72032 D 0.01 -26.7825 15.2927 0.73879 1.0:0.0:0.0:0.0 . 1020 O95759 TBCD8_HUMAN G 1020;1035 ENSP00000366036:V1020G;ENSP00000386856:V1035G ENSP00000366036:V1020G V - 2 0 TBC1D8 100991079 1.000000 0.71417 0.957000 0.39632 0.413000 0.31143 9.173000 0.94815 1.984000 0.57885 0.529000 0.55759 GTC TBC1D8-011 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000376092.1 - ENST00000376840.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WO-Normal-SM-5EMLX GNA12 2768 broad.mit.edu 37 7 2771272 2771272 + Missense_Mutation SNP C C T TCGA-S7-A7WO-01A-11D-A35I-08 TCGA-S7-A7WO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 751155ce-fde0-4b45-95ed-cdc7ff67e7e7 6b372fa4-36b7-4afc-a858-6e48fbea228c g.chr7:2771272C>T ENST00000407904.3 - 5.0 840 c.512G>A c.(511-513)gGc>gAc p.G171D GNA12_ENST00000544127.1_Missense_Mutation_p.G137D|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000407653.1_Missense_Mutation_p.G154D|GNA12_ENST00000396960.3_Missense_Mutation_p.G82D|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000275364.3_Missense_Mutation_p.G230D NM_001282441.1 NP_001269370.1 Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) alpha 12 230.0 adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266) brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886) D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871) endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13.0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) GGACCGCTGGCCGCCCACATC 0.542 0 86.0 78.0 80.0 7 2771272.0 2203.0 4300.0 6503.0 SO:0001583 missense L01694 CCDS5335.1, CCDS64584.1, CCDS64583.1 7p22.3 2006-07-08 ENSG00000146535 ENSG00000146535 2768.0 2768.0 4380.0 protein-coding gene gene with protein product 604394.0 8423800, 16247467 Standard NM_007353 NM_007353 Approved gep uc003smu.3 Q03113 OTTHUMG00000023064 ENST00000407904.3:c.512G>A 7.__UNKNOWN__:g.2771272C>T ENSP00000385935:p.Gly171Asp A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9 __UNKNOWN__ . . . . . . . . . . C 26.3 4.723787 0.89298 . . ENSG00000146535 ENST00000275364;ENST00000407904;ENST00000407653;ENST00000396960;ENST00000544127 D;D;D;D;D 0.99194 -5.54;-5.54;-5.54;-5.54;-5.54 6.17 5.3 0.74995 . 0.048236 0.85682 D 0.000000 D 0.99641 0.9868 H 0.99156 4.45 0.80722 D 1 P;D;P 0.89917 0.702;1.0;0.702 P;D;P 0.97110 0.746;1.0;0.812 D 0.97213 0.9872 10 0.87932 D 0 . 15.565 0.76284 0.0:0.9345:0.0:0.0655 . 230;230;171 Q5PPR5;Q03113;B3KXS2 .;GNA12_HUMAN;. D 230;171;154;82;137 ENSP00000275364:G230D;ENSP00000385935:G171D;ENSP00000386054:G154D;ENSP00000380160:G82D;ENSP00000437469:G137D ENSP00000275364:G230D G - 2 0 GNA12 2737798 1.000000 0.71417 0.991000 0.47740 0.977000 0.68977 7.720000 0.84759 1.636000 0.50526 -0.136000 0.14681 GGC GNA12-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000325235.1 - ENST00000407904.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WO-Normal-SM-5EMLX ANKRD36C 400986 broad.mit.edu 37 2 96523162 96523162 + Silent SNP G G T TCGA-S7-A7WO-01A-11D-A35I-08 TCGA-S7-A7WO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 751155ce-fde0-4b45-95ed-cdc7ff67e7e7 6b372fa4-36b7-4afc-a858-6e48fbea228c g.chr2:96523162G>T ENST00000456556.1 - 62.0 4059 c.3975C>A c.(3973-3975)atC>atA p.I1325I ANKRD36C_ENST00000419039.2_Silent_p.I352I|ANKRD36C_ENST00000420871.2_Silent_p.I576I Q5JPF3 AN36C_HUMAN ankyrin repeat domain 36C 1325.0 ion channel inhibitor activity (GO:0008200) p.I1325I(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18.0 GCTCTTCTGTGATTCTTAACT 0.343 1 Substitution - coding silent(1) prostate(1) SO:0001819 synonymous_variant AL832836 2q11.1 2013-01-10 ENSG00000174501 ENSG00000174501 400986.0 400986.0 """Ankyrin repeat domain containing""" 32946.0 protein-coding gene gene with protein product """protein immuno-reactive with anti-PTH polyclonal antibodies""" Standard NM_001010914 XR_251121 Approved DKFZp667P0924 uc002suz.1 Q5JPF3 OTTHUMG00000155211 ENST00000456556.1:c.3975C>A 2.__UNKNOWN__:g.96523162G>T C9JZ08|Q15694|Q53S06|Q658V2 __UNKNOWN__ ANKRD36C-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding protein_coding OTTHUMT00000338799.2 - ENST00000456556.1 Silent SNP PCPG-TCGA-S7-A7WO-Normal-SM-5EMLX PPM1M 132160 broad.mit.edu 37 3 52282461 52282461 + Missense_Mutation SNP G G T TCGA-S7-A7WO-01A-11D-A35I-08 TCGA-S7-A7WO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 751155ce-fde0-4b45-95ed-cdc7ff67e7e7 6b372fa4-36b7-4afc-a858-6e48fbea228c g.chr3:52282461G>T ENST00000296487.4 + 6.0 827 c.423G>T c.(421-423)atG>atT p.M141I PPM1M_ENST00000457351.2_Missense_Mutation_p.M302I|PPM1M_ENST00000409502.3_Missense_Mutation_p.M90I|PPM1M_ENST00000323588.4_Missense_Mutation_p.M141I Q96MI6 PPM1M_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1M 141.0 PP2C-like. protein dephosphorylation (GO:0006470) nucleus (GO:0005634) CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145) prostate(1)|urinary_tract(1) 2.0 BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194) ATCACCACATGAGTGGCTGGT 0.627 NSCLC(151;810 2688 34365 49863) 0 31.0 34.0 33.0 3 52282461.0 2203.0 4300.0 6503.0 SO:0001583 missense AK096681 CCDS46840.1 3p21.31 2012-04-17 2010-03-05 ENSG00000164088 ENSG00000164088 132160.0 132160.0 """Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent""" 26506.0 protein-coding gene gene with protein product """protein phosphatase 2C eta""" 608979.0 """protein phosphatase 1M (PP2C domain containing)""" 12477932 Standard NM_144641 NM_001122870 Approved PP2Ceta, FLJ32332 uc011bed.2 Q96MI6 OTTHUMG00000153046 ENST00000296487.4:c.423G>T 3.__UNKNOWN__:g.52282461G>T ENSP00000296487:p.Met141Ile Q8N8J9|Q96DB8 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 24.2|24.2 4.510444|4.510444 0.85389|0.85389 .|. .|. ENSG00000164088|ENSG00000164088 ENST00000457351;ENST00000296487;ENST00000409502;ENST00000323588|ENST00000457454 T;T;T;T|. 0.46451|. 1.72;1.44;0.87;1.43|. 4.5|4.5 4.5|4.5 0.54988|0.54988 Protein phosphatase 2C-like (2);|. 0.137331|. 0.51477|. D|. 0.000088|. T|. 0.73329|. 0.3573|. M|M 0.72479|0.72479 2.2|2.2 0.58432|0.58432 D|D 0.999999|0.999999 D;D|. 0.67145|. 0.983;0.996|. P;D|. 0.70227|. 0.754;0.968|. T|. 0.74077|. -0.3781|. 10|. 0.87932|. D|. 0|. 1.7309|1.7309 15.5371|15.5371 0.76013|0.76013 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 302;141|. B7XGB9;Q96MI6|. .;PPM1M_HUMAN|. I|L 302;141;90;141|197 ENSP00000393747:M302I;ENSP00000296487:M141I;ENSP00000387046:M90I;ENSP00000319894:M141I|. ENSP00000296487:M141I|. M|X +|+ 3|2 0|2 PPM1M|PPM1M 52257501|52257501 1.000000|1.000000 0.71417|0.71417 0.994000|0.994000 0.49952|0.49952 0.797000|0.797000 0.45037|0.45037 8.312000|8.312000 0.89976|0.89976 2.327000|2.327000 0.79052|0.79052 0.561000|0.561000 0.74099|0.74099 ATG|TGA PPM1M-001 KNOWN basic protein_coding protein_coding OTTHUMT00000329230.2 + ENST00000296487.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WO-Normal-SM-5EMLX TCTE1 202500 broad.mit.edu 37 6 44250125 44250125 + Missense_Mutation SNP T T G TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr6:44250125T>G ENST00000371505.4 - 4.0 1140 c.1018A>C c.(1018-1020)Aac>Cac p.N340H TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371504.1_Intron NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 340.0 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34.0 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TTAGCCAGGTTGAGCACACGC 0.602 0 159.0 135.0 143.0 6 44250125.0 2203.0 4300.0 6503.0 SO:0001583 missense BC035022 CCDS4910.1 6q21.1 2014-07-18 ENSG00000146221 ENSG00000146221 202500.0 202500.0 11693.0 protein-coding gene gene with protein product 186975.0 2568335, 8646886 Standard NM_182539 NM_182539 Approved D6S46, MGC33600, FAP155 uc003oxi.2 Q5JU00 OTTHUMG00000014763 ENST00000371505.4:c.1018A>C 6.__UNKNOWN__:g.44250125T>G ENSP00000360560:p.Asn340His B4DX59|Q8IYS6 __UNKNOWN__ CCDS4910.1 . . . . . . . . . . T 13.64 2.297222 0.40694 . . ENSG00000146221 ENST00000371505 T 0.55930 0.49 5.37 5.37 0.77165 . 0.245514 0.46442 D 0.000296 T 0.29223 0.0727 L 0.49126 1.545 0.80722 D 1 B 0.20052 0.041 B 0.29077 0.098 T 0.21143 -1.0254 10 0.24483 T 0.36 -38.2635 7.405 0.26985 0.0:0.0734:0.1445:0.7821 . 340 Q5JU00 TCTE1_HUMAN H 340 ENSP00000360560:N340H ENSP00000360560:N340H N - 1 0 TCTE1 44358103 0.996000 0.38824 1.000000 0.80357 0.965000 0.64279 1.263000 0.33004 2.176000 0.68965 0.374000 0.22700 AAC TCTE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040736.1 - ENST00000371505.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WP-Normal-SM-5EMM9 CRTAC1 55118 broad.mit.edu 37 10 99677386 99677386 + Missense_Mutation SNP C C A TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr10:99677386C>A ENST00000370597.3 - 5.0 941 c.586G>T c.(586-588)Gcc>Tcc p.A196S CRTAC1_ENST00000298819.4_Missense_Mutation_p.A196S|CRTAC1_ENST00000370591.2_Missense_Mutation_p.A196S NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 196.0 extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509) autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35.0 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) GCGTAATTGGCAATGTAGATA 0.602 0 70.0 55.0 60.0 10 99677386.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ276171 CCDS31266.1, CCDS55723.1 10q22 2007-12-03 ENSG00000095713 ENSG00000095713 55118.0 55118.0 14882.0 protein-coding gene gene with protein product 606276.0 11139377 Standard NM_018058 NM_018058 Approved FLJ10320, CEP-68, ASPIC1 uc001kou.2 Q9NQ79 OTTHUMG00000018871 ENST00000370597.3:c.586G>T 10.__UNKNOWN__:g.99677386C>A ENSP00000359629:p.Ala196Ser B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46 __UNKNOWN__ CCDS31266.1 . . . . . . . . . . C 14.36 2.511723 0.44660 . . ENSG00000095713 ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591 T;T;T;T;T 0.24350 1.86;1.86;1.86;1.86;1.86 5.28 4.38 0.52667 . 0.000000 0.85682 D 0.000000 T 0.20170 0.0485 L 0.37750 1.13 0.52501 D 0.999954 P;P 0.39624 0.681;0.671 B;B 0.36567 0.228;0.134 T 0.02457 -1.1156 10 0.25106 T 0.35 -20.9458 13.727 0.62765 0.0:0.9256:0.0:0.0744 . 196;196 Q9NQ79-2;Q9NQ79 .;CRAC1_HUMAN S 92;196;196;188;196 ENSP00000408445:A92S;ENSP00000359629:A196S;ENSP00000298819:A196S;ENSP00000310810:A188S;ENSP00000359623:A196S ENSP00000298819:A196S A - 1 0 CRTAC1 99667376 1.000000 0.71417 0.998000 0.56505 0.958000 0.62258 4.528000 0.60580 1.229000 0.43630 0.467000 0.42956 GCC CRTAC1-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000049754.1 - ENST00000370597.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WP-Normal-SM-5EMM9 GPRC5C 0 broad.mit.edu 37 17 72436724 72436724 + Missense_Mutation SNP A A T TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr17:72436724A>T ENST00000481232.1 + 2.0 916 GPRC5C_ENST00000392627.1_Missense_Mutation_p.H315L|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.H282L Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, class C, group 5, member C G-protein coupled receptor signaling pathway (GO:0007186) cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982) G-protein coupled receptor activity (GO:0004930) central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17.0 AACAAGCAGCACAACAGTCCC 0.607 0 100.0 78.0 86.0 17 72436724.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AF207989 CCDS11699.1, CCDS42378.1 17q25 2014-01-30 2014-01-30 ENSG00000170412 ENSG00000170412 55890.0 """GPCR / Class C : Orphans""" 13309.0 protein-coding gene gene with protein product 605949.0 """G protein-coupled receptor, family C, group 5, member C""" 10945465 Standard NM_022036 Approved RAIG-3 uc002jkr.3 Q9NQ84 OTTHUMG00000067613 ENST00000481232.1:c.405+539A>T 17.__UNKNOWN__:g.72436724A>T B5BUN4|Q2NL85|Q9NZG5 __UNKNOWN__ . . . . . . . . . . A 0.092 -1.164862 0.01673 . . ENSG00000170412 ENST00000392627;ENST00000342648;ENST00000392629;ENST00000392628 T 0.17213 2.29 5.63 -3.77 0.04346 GPCR, family 3, C-terminal (1); 0.663603 0.15796 N 0.244199 T 0.06234 0.0161 N 0.12746 0.255 0.09310 N 1 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.04013 0.001;0.001;0.001 T 0.41805 -0.9488 10 0.09084 T 0.74 -12.7236 7.6161 0.28158 0.3664:0.0:0.5148:0.1189 . 270;270;282 A8MXZ4;Q9NQ84;Q9NQ84-2 .;GPC5C_HUMAN;. L 270;315;282;270 ENSP00000376405:H282L ENSP00000340595:H315L H + 2 0 GPRC5C 69948319 0.000000 0.05858 0.211000 0.23655 0.064000 0.16182 -2.062000 0.01390 -0.554000 0.06150 -1.017000 0.02453 CAC GPRC5C-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000145095.2 + ENST00000481232.1 Intron SNP PCPG-TCGA-S7-A7WP-Normal-SM-5EMM9 ZFC3H1 196441 broad.mit.edu 37 12 72032295 72032295 + Splice_Site SNP G G A TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr12:72032295G>A ENST00000378743.3 - 7.0 1986 c.1628C>T c.(1627-1629)gCt>gTt p.A543V NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 543.0 Pro-rich. RNA processing (GO:0006396) extracellular space (GO:0005615)|intracellular (GO:0005622) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) 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) 69.0 TGGTGAAGGAGCTGTAAAAAA 0.358 0 42.0 41.0 42.0 12 72032295.0 1798.0 4062.0 5860.0 SO:0001630 splice_region_variant AB011118 CCDS41813.1 12q21.1 2013-01-25 2008-10-01 2008-10-01 ENSG00000133858 196441.0 196441.0 """Zinc finger, C3H1-type containing""" 28328.0 protein-coding gene gene with protein product """proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131""" PSRC2, CCDC131 9628581 Standard NM_144982 NM_144982 Approved MGC23401, KIAA0546 uc001swo.2 O60293 OTTHUMG00000169545 ENST00000378743.3:c.1628-1C>T 12.__UNKNOWN__:g.72032295G>A Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7 __UNKNOWN__ CCDS41813.1 . . . . . . . . . . G 12.56 1.975436 0.34848 . . ENSG00000133858 ENST00000378743 T 0.34275 1.37 5.39 4.47 0.54385 . 0.324810 0.28209 N 0.016197 T 0.22437 0.0541 N 0.19112 0.55 0.80722 D 1 B 0.26081 0.141 B 0.17722 0.019 T 0.05257 -1.0896 10 0.52906 T 0.07 . 9.1046 0.36689 0.1815:0.0:0.8185:0.0 . 543 O60293 ZC3H1_HUMAN V 543 ENSP00000368017:A543V ENSP00000368017:A543V A - 2 0 ZFC3H1 70318562 1.000000 0.71417 0.957000 0.39632 0.567000 0.35839 2.455000 0.44988 1.215000 0.43411 0.655000 0.94253 GCT ZFC3H1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404751.1 Missense_Mutation - ENST00000378743.3 Splice_Site SNP PCPG-TCGA-S7-A7WP-Normal-SM-5EMM9 DCX 1641 broad.mit.edu 37 X 110576325 110576325 + Silent SNP A A G TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chrX:110576325A>G ENST00000356220.3 - 5.0 861 c.762T>C c.(760-762)ccT>ccC p.P254P DCX_ENST00000496551.1_5'UTR|DCX_ENST00000338081.3_Silent_p.P335P|DCX_ENST00000371993.2_Silent_p.P254P|DCX_ENST00000356915.2_Silent_p.P254P|DCX_ENST00000488120.1_Silent_p.P254P O43602 DCX_HUMAN doublecortin 335.0 axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005) microtubule binding (GO:0008017)|protein kinase binding (GO:0019901) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41.0 GAAATTTTTCAGGACCACAGG 0.398 0 150.0 106.0 121.0 X 110576325.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF040254 CCDS14556.1, CCDS14557.1, CCDS14558.1 Xq22.3-q23 2008-08-01 2008-08-01 ENSG00000077279 ENSG00000077279 1641.0 1641.0 2714.0 protein-coding gene gene with protein product """doublecortex""" 300121.0 """doublecortex; lissencephaly, X-linked (doublecortin)""" 9489699, 9489700 Standard NM_178153 NM_178151 Approved SCLH, DC, LISX, DBCN, XLIS uc004epd.3 O43602 OTTHUMG00000022204 ENST00000356220.3:c.762T>C X.__UNKNOWN__:g.110576325A>G A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5 __UNKNOWN__ CCDS14558.1 . . . . . . . . . . A 10.38 1.333626 0.24167 . . ENSG00000077279 ENST00000358070 . . . 5.44 2.83 0.33086 . . . . . T 0.44685 0.1305 . . . 0.80722 D 1 . . . . . . T 0.41734 -0.9492 4 . . . . 2.291 0.04138 0.5453:0.1936:0.0819:0.1792 . . . . P 327 . . L - 2 0 DCX 110462981 0.995000 0.38212 1.000000 0.80357 0.992000 0.81027 0.371000 0.20450 1.816000 0.52996 0.356000 0.21956 CTG DCX-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000057926.2 - ENST00000356220.3 Silent SNP PCPG-TCGA-S7-A7WP-Normal-SM-5EMM9 DYNC2H1 79659 ucsc.edu 37 11 103043978 103043978 + Silent SNP C C T TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr11:103043978C>T ENST00000375735.2 + 35.0 5646 c.5502C>T c.(5500-5502)ggC>ggT p.G1834G DYNC2H1_ENST00000398093.3_Silent_p.G1834G|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 1834.0 AAA 1. {ECO:0000250}. antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522) apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774) NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33.0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) ATTCGGAAGGCTTTAAAGACG 0.333 0 61.0 61.0 61.0 11 103043978.0 1823.0 4066.0 5889.0 SO:0001819 synonymous_variant AB082528 CCDS44717.1, CCDS53701.1 11q21-q22.1 2011-06-02 2005-11-24 2005-11-24 ENSG00000187240 ENSG00000187240 79659.0 79659.0 """Cytoplasmic dyneins""" 2962.0 protein-coding gene gene with protein product 603297 """dynein, cytoplasmic, heavy polypeptide 2""" DNCH2 9763680, 9373155 Standard XM_370652 NM_001080463 Approved hdhc11, DHC2, DHC1b, DYH1B uc001phn.1 Q8NCM8 OTTHUMG00000165941 ENST00000375735.2:c.5502C>T 11.__UNKNOWN__:g.103043978C>T O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4 __UNKNOWN__ CCDS53701.1 DYNC2H1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387196.1 + ENST00000375735.2 Silent SNP PCPG-TCGA-S7-A7WP-Normal-SM-5EMM9 MUC4 4585 ucsc.edu 37 3 195492245 195492245 + Missense_Mutation SNP A A G TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr3:195492245A>G ENST00000346145.4 - 8.0 1025 c.986T>C c.(985-987)cTg>cCg p.L329P MUC4_ENST00000475231.1_Missense_Mutation_p.L4513P|MUC4_ENST00000463781.3_Missense_Mutation_p.L4565P|MUC4_ENST00000349607.4_Missense_Mutation_p.L278P NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1322.0 cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) 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) 51.0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CTGGCTCTTCAGCCACTGCAG 0.637 0 43.0 41.0 41.0 3 195492245.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585.0 4585.0 """Mucins""" 7514.0 protein-coding gene gene with protein product 158372 """mucin 4, tracheobronchial""" 1673336 Standard NM_018406 NM_004532 Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.986T>C 3.__UNKNOWN__:g.195492245A>G ENSP00000304207:p.Leu329Pro O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 __UNKNOWN__ CCDS3310.1 . . . . . . . . . . . 9.943 1.217993 0.22373 . . ENSG00000145113 ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409 T;T;T;T 0.40476 1.03;1.4;1.3;1.32 4.15 4.15 0.48705 AMOP (2); 0.000000 0.33712 U 0.004631 T 0.61502 0.2352 M 0.70595 2.14 0.51012 D 0.999909 D;D;D;D;D;D;D 0.89917 1.0;0.999;0.999;0.999;1.0;1.0;0.999 D;D;D;D;D;D;D 0.91635 0.997;0.989;0.986;0.986;0.999;0.999;0.968 T 0.64300 -0.6440 10 0.52906 T 0.07 -1.2722 12.5372 0.56147 1.0:0.0:0.0:0.0 . 4437;1322;278;329;4565;4513;1270 E7ESK3;Q99102;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10 .;MUC4_HUMAN;.;.;.;.;. P 278;329;4565;4513;1291 ENSP00000338109:L278P;ENSP00000304207:L329P;ENSP00000417498:L4565P;ENSP00000420243:L4513P ENSP00000304207:L329P L - 2 0 MUC4 196977916 0.688000 0.27680 0.632000 0.29296 0.104000 0.19210 5.656000 0.67988 1.750000 0.51863 0.378000 0.23410 CTG MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000341862.1 - ENST00000346145.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WP-Normal-SM-5EMM9 STK40 83931 broad.mit.edu 37 1 36823840 36823840 + Splice_Site SNP C C T TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr1:36823840C>T ENST00000373129.3 - 5.0 748 c.342G>A c.(340-342)caG>caA p.Q114Q STK40_ENST00000359297.2_Splice_Site_p.Q114Q|STK40_ENST00000373130.3_Splice_Site_p.Q119Q|STK40_ENST00000373132.3_Splice_Site_p.Q114Q|STK40_ENST00000482458.1_5'UTR NM_032017.1 NP_114406.1 Q8N2I9 STK40_HUMAN serine/threonine kinase 40 114.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1) 13.0 Myeloproliferative disorder(586;0.0393) GGCCGCTCACCTGGAAGAGGC 0.647 0 61.0 53.0 56.0 1 36823840.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant BC008344 CCDS407.1, CCDS60089.1 1p34.3 2008-02-05 ENSG00000196182 ENSG00000196182 83931.0 83931.0 21373.0 protein-coding gene gene with protein product 609437.0 Standard NM_032017 NM_032017 Approved MGC4796, SgK495 uc001cak.1 Q8N2I9 OTTHUMG00000008238 ENST00000373129.3:c.342+1G>A 1.__UNKNOWN__:g.36823840C>T D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6 __UNKNOWN__ CCDS407.1 STK40-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000022592.1 Silent - ENST00000373129.3 Splice_Site SNP PCPG-TCGA-S7-A7WQ-Normal-SM-5EMLK CAGE1 285782 broad.mit.edu 37 6 7373788 7373788 + Nonsense_Mutation SNP C C A TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr6:7373788C>A ENST00000502583.1 - 5.0 1828 c.1264G>T c.(1264-1266)Gaa>Taa p.E422* CAGE1_ENST00000512086.1_Nonsense_Mutation_p.E422*|CAGE1_ENST00000379918.4_Nonsense_Mutation_p.E422*|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.E286*|CAGE1_ENST00000338150.4_Nonsense_Mutation_p.E422* NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 422.0 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19.0 Ovarian(93;0.0418) ATGTACCTTTCCTGTAAACAC 0.343 0 107.0 94.0 98.0 6 7373788.0 1859.0 4098.0 5957.0 SO:0001587 stop_gained BC026194 CCDS47367.1, CCDS54964.1, CCDS54965.1 6p24.3 2009-08-06 2005-01-26 2005-01-27 ENSG00000164304 ENSG00000164304 285782.0 285782.0 21622.0 protein-coding gene gene with protein product """cancer/testis antigen 95""" 608304.0 """cancer/testis antigen 3""" CTAG3 12531476 Standard NM_175745 NM_205864 Approved bA69L16.7, CT95 uc003mxl.2 Q8TC20 OTTHUMG00000014200 ENST00000502583.1:c.1264G>T 6.__UNKNOWN__:g.7373788C>A ENSP00000425493:p.Glu422* D6RCT9|Q5TAM0|Q86TM4|Q8N7R5 __UNKNOWN__ CCDS54965.1 . . . . . . . . . . C 19.40 3.820381 0.71028 . . ENSG00000164304 ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691 . . . 5.66 3.9 0.45041 . 0.087960 0.49305 D 0.000144 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.54805 T 0.06 -11.3938 8.558 0.33494 0.0:0.8257:0.0:0.1743 . . . . X 422;422;422;286;422;422;422;434 . ENSP00000296742:E286X E - 1 0 CAGE1 7318787 1.000000 0.71417 0.998000 0.56505 0.029000 0.11900 1.984000 0.40658 0.764000 0.33197 -0.229000 0.12294 GAA CAGE1-001 NOVEL non_canonical_conserved|not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000039772.2 - ENST00000502583.1 Nonsense_Mutation SNP PCPG-TCGA-S7-A7WQ-Normal-SM-5EMLK SPON1 10418 broad.mit.edu 37 11 14284282 14284282 + RNA SNP G G T TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr11:14284282G>T ENST00000310358.7 + 0.0 2556 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion (GO:0007155) extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21.0 Epithelial(150;0.00898) CTCACCGAGTGGTCCCAGTGG 0.517 0 67.0 68.0 68.0 11 14284282.0 2064.0 4199.0 6263.0 AB018305 CCDS73262.1 11p15.2 2014-05-06 2004-03-05 ENSG00000152268 ENSG00000262655 10418.0 10418.0 11252.0 protein-coding gene gene with protein product 604989.0 """spondin 1, (f-spondin) extracellular matrix protein""" 9872452 Standard NM_145584 NM_006108 Approved KIAA0762, f-spondin uc001mle.3 Q9HCB6 OTTHUMG00000181576 ENST00000310358.7: 11.__UNKNOWN__:g.14284282G>T A8K6W5|O94862|Q8NCD7|Q8WUR5 __UNKNOWN__ . . . . . . . . . . G 15.94 2.979953 0.53827 . . ENSG00000152268 ENST00000310358 . . . 5.93 5.93 0.95920 . 0.000000 0.85682 D 0.000000 D 0.82655 0.5084 . . . 0.80722 D 1.000000 D 0.89917 1.0 D 0.87578 0.998 T 0.83158 -0.0100 7 0.59425 D 0.04 . 17.8376 0.88704 0.0:0.0:1.0:0.0 . 674 Q9HCB6 SPON1_HUMAN L 673 . ENSP00000309297:W673L W + 2 0 SPON1 14240858 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 9.476000 0.97823 2.815000 0.96918 0.561000 0.74099 TGG SPON1-201 KNOWN basic processed_transcript processed_transcript + ENST00000310358.7 RNA SNP PCPG-TCGA-S7-A7WQ-Normal-SM-5EMLK ZNF385D 79750 broad.mit.edu 37 3 21462913 21462913 + Silent SNP A A T TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr3:21462913A>T ENST00000281523.2 - 8.0 1499 c.981T>A c.(979-981)ccT>ccA p.P327P NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 327.0 nucleus (GO:0005634) nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46.0 ATGGCTTTGAAGGTTCTTTTG 0.423 0 37.0 40.0 39.0 3 21462913.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC007212 CCDS2636.1 3p24.3 2012-10-05 2007-12-06 2007-12-06 ENSG00000151789 ENSG00000151789 79750.0 79750.0 26191.0 protein-coding gene gene with protein product """zinc finger protein 659""" ZNF659 12477932 Standard NM_024697 NM_024697 Approved FLJ22419 uc003cce.3 Q9H6B1 OTTHUMG00000130484 ENST00000281523.2:c.981T>A 3.__UNKNOWN__:g.21462913A>T __UNKNOWN__ CCDS2636.1 ZNF385D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252884.1 - ENST00000281523.2 Silent SNP PCPG-TCGA-S7-A7WQ-Normal-SM-5EMLK SPON1 10418 broad.mit.edu 37 11 14284285 14284285 + RNA SNP C C G TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr11:14284285C>G ENST00000310358.7 + 0.0 2559 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion (GO:0007155) extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21.0 Epithelial(150;0.00898) ACCGAGTGGTCCCAGTGGTCG 0.517 0 68.0 69.0 69.0 11 14284285.0 2062.0 4201.0 6263.0 AB018305 CCDS73262.1 11p15.2 2014-05-06 2004-03-05 ENSG00000152268 ENSG00000262655 10418.0 10418.0 11252.0 protein-coding gene gene with protein product 604989.0 """spondin 1, (f-spondin) extracellular matrix protein""" 9872452 Standard NM_145584 NM_006108 Approved KIAA0762, f-spondin uc001mle.3 Q9HCB6 OTTHUMG00000181576 ENST00000310358.7: 11.__UNKNOWN__:g.14284285C>G A8K6W5|O94862|Q8NCD7|Q8WUR5 __UNKNOWN__ . . . . . . . . . . C 15.86 2.957338 0.53400 . . ENSG00000152268 ENST00000310358 . . . 5.93 5.93 0.95920 . 0.102137 0.64402 D 0.000002 T 0.79197 0.4405 . . . 0.48975 D 0.999735 D 0.76494 0.999 D 0.65323 0.934 T 0.80379 -0.1407 7 0.66056 D 0.02 . 17.8376 0.88704 0.0:1.0:0.0:0.0 . 675 Q9HCB6 SPON1_HUMAN C 674 . ENSP00000309297:S674C S + 2 0 SPON1 14240861 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 5.775000 0.68915 2.815000 0.96918 0.561000 0.74099 TCC SPON1-201 KNOWN basic processed_transcript processed_transcript + ENST00000310358.7 RNA SNP PCPG-TCGA-S7-A7WQ-Normal-SM-5EMLK SZT2 23334 broad.mit.edu 37 1 43882233 43882233 + Missense_Mutation SNP C C A TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr1:43882233C>A ENST00000562955.1 + 7.0 800 c.800C>A c.(799-801)aCc>aAc p.T267N NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 267.0 central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668) extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777) 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) 113.0 GATGGGGTGACCAGTGTACCT 0.537 0 63.0 52.0 55.0 1 43882233.0 876.0 1991.0 2867.0 SO:0001583 missense AB007936 CCDS30694.1, CCDS30694.2 1p34.2 2012-11-19 2011-06-10 2011-06-10 ENSG00000198198 ENSG00000198198 23334.0 23334.0 29040.0 protein-coding gene gene with protein product """seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)""" 615463.0 """chromosome 1 open reading frame 84"", ""KIAA0467""" C1orf84, KIAA0467 9455484 Standard NM_015284 NM_015284 Approved FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A uc001cjk.3 Q5T011 OTTHUMG00000007423 ENST00000562955.1:c.800C>A 1.__UNKNOWN__:g.43882233C>A ENSP00000457168:p.Thr267Asn A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8 __UNKNOWN__ CCDS30694.2 SZT2-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000019517.3 + ENST00000562955.1 Missense_Mutation SNP PCPG-TCGA-S7-A7WQ-Normal-SM-5EMLK FADD 8772 broad.mit.edu 37 11 70052302 70052302 + Missense_Mutation SNP G G C TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr11:70052302G>C ENST00000301838.4 + 2.0 647 c.350G>C c.(349-351)cGt>cCt p.R117P NM_003824.3 NP_003815.1 Q13158 FADD_HUMAN Fas (TNFRSF6)-associated via death domain 117.0 Death. {ECO:0000255|PROSITE- ProRule:PRU00064}. activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|motor neuron apoptotic process (GO:0097049)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of necroptotic process (GO:0060546)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000454)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of proteolysis (GO:0045862)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032) CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|ripoptosome (GO:0097342) death effector domain binding (GO:0035877)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|tumor necrosis factor receptor superfamily binding (GO:0032813) endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2) 9.0 Esophageal squamous(2;1.19e-45) LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) AGGCTGGCTCGTCAGCTCAAA 0.498 0 83.0 68.0 73.0 11 70052302.0 2200.0 4294.0 6494.0 SO:0001583 missense U24231 CCDS8196.1 11q13.3 2014-09-17 ENSG00000168040 ENSG00000168040 8772.0 8772.0 3573.0 protein-coding gene gene with protein product """Fas-associating protein with death domain"", ""Fas-associating death domain-containing protein"", ""mediator of receptor-induced toxicity"", ""growth-inhibiting gene 3 protein""" 602457.0 7536190, 7538907 Standard NM_003824 NM_003824 Approved MORT1, GIG3 uc001opm.2 Q13158 OTTHUMG00000167264 ENST00000301838.4:c.350G>C 11.__UNKNOWN__:g.70052302G>C ENSP00000301838:p.Arg117Pro Q14866|Q6IBR4 __UNKNOWN__ CCDS8196.1 . . . . . . . . . . G 19.91 3.914301 0.72983 . . ENSG00000168040 ENST00000301838 D 0.88354 -2.37 4.85 4.85 0.62838 Death (3);DEATH-like (3); 0.000000 0.85682 D 0.000000 D 0.95430 0.8516 M 0.89715 3.055 0.49213 D 0.999764 D 0.89917 1.0 D 0.91635 0.999 D 0.96443 0.9328 10 0.87932 D 0 -13.2903 16.7106 0.85384 0.0:0.0:1.0:0.0 . 117 Q13158 FADD_HUMAN P 117 ENSP00000301838:R117P ENSP00000301838:R117P R + 2 0 FADD 69729950 0.996000 0.38824 0.047000 0.18901 0.807000 0.45602 6.090000 0.71397 2.219000 0.72066 0.561000 0.74099 CGT FADD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393902.1 + ENST00000301838.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WQ-Normal-SM-5EMLK TAF9 6880 broad.mit.edu 37 5 68661172 68661172 + Silent SNP A A C TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr5:68661172A>C ENST00000380822.4 - 2.0 173 TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000217893.5_Silent_p.S131S|TAF9_ENST00000328663.4_Silent_p.S131S|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000506736.1_Silent_p.S131S NM_016283.4 NP_057367.1 Q16594 TAF9_HUMAN TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276) activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 8.0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176) TTTTCTGTAAAGATTTCAGCC 0.443 0 154.0 157.0 156.0 5 68661172.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant U21858 CCDS4001.1, CCDS4002.1, CCDS43324.1 5q13.2 2013-09-26 2002-08-29 2001-12-07 ENSG00000085231 ENSG00000085231 6880.0 6880.0 11542.0 protein-coding gene gene with protein product 600822.0 """TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD""" TAF2G 10191103, 15630091, 16079131 Standard NM_003187 NM_001015892 Approved TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004 uc003jwa.3 Q16594 OTTHUMG00000099359 ENST00000380822.4:c.121+1157T>G 5.__UNKNOWN__:g.68661172A>C D3DWA3|Q5U0D1|Q9BTS1 __UNKNOWN__ CCDS4001.1 TAF9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000216793.1 - ENST00000380822.4 Intron SNP PCPG-TCGA-S7-A7WQ-Normal-SM-5EMLK OR8A1 390275 broad.mit.edu 37 11 124440082 124440082 + Missense_Mutation SNP C C T TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr11:124440082C>T ENST00000284287.3 + 1.0 190 c.118C>T c.(118-120)Ctc>Ttc p.L40F NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 40.0 axon guidance (GO:0007411) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22.0 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) GAGAGCAGACCTCCAGCTCCC 0.527 0 100.0 93.0 96.0 11 124440082.0 2201.0 4299.0 6500.0 SO:0001583 missense BK004495 CCDS31712.1 11q24.2 2012-08-09 ENSG00000196119 ENSG00000196119 390275.0 390275.0 """GPCR / Class A : Olfactory receptors""" 8469.0 protein-coding gene gene with protein product Standard NM_001005194 NM_001005194 Approved OST025 uc010san.2 Q8NGG7 OTTHUMG00000165923 ENST00000284287.3:c.118C>T 11.__UNKNOWN__:g.124440082C>T ENSP00000284287:p.Leu40Phe Q6IEW7|Q96RC6 __UNKNOWN__ CCDS31712.1 . . . . . . . . . . C 9.712 1.157231 0.21454 . . ENSG00000196119 ENST00000284287 T 0.05382 3.45 5.08 2.23 0.28157 . 0.191207 0.25310 N 0.031598 T 0.09598 0.0236 M 0.79343 2.45 0.33286 D 0.562854 B 0.17268 0.021 B 0.23852 0.049 T 0.02581 -1.1138 10 0.56958 D 0.05 . 6.3012 0.21113 0.0:0.5939:0.172:0.2342 . 40 Q8NGG7 OR8A1_HUMAN F 40 ENSP00000284287:L40F ENSP00000284287:L40F L + 1 0 OR8A1 123945292 0.000000 0.05858 0.932000 0.37286 0.530000 0.34684 -1.101000 0.03336 0.326000 0.23384 0.585000 0.79938 CTC OR8A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387062.1 + ENST00000284287.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WQ-Normal-SM-5EMLK ZNF287 57336 broad.mit.edu 37 17 16456249 16456249 + Missense_Mutation SNP T T C TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr17:16456249T>C ENST00000395824.1 - 6.0 1824 c.1207A>G c.(1207-1209)Aaa>Gaa p.K403E ZNF287_ENST00000395825.3_Missense_Mutation_p.K403E Q9HBT7 ZN287_HUMAN zinc finger protein 287 396.0 positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20.0 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) CTAAACTCTTTCCCACATTCT 0.428 0 191.0 174.0 180.0 17 16456249.0 2203.0 4300.0 6503.0 SO:0001583 missense AF217227 CCDS11179.2 17p11.2 2013-01-09 ENSG00000141040 ENSG00000141040 57336.0 57336.0 """Zinc fingers, C2H2-type"", ""-"", ""-"", ""-""" 13502.0 protein-coding gene gene with protein product Standard NM_020653 Approved ZKSCAN13, ZSCAN45 uc002gqi.2 Q9HBT7 OTTHUMG00000058993 ENST00000395824.1:c.1207A>G 17.__UNKNOWN__:g.16456249T>C ENSP00000379168:p.Lys403Glu Q6IAG1 __UNKNOWN__ CCDS11179.2 . . . . . . . . . . T 13.94 2.385490 0.42308 . . ENSG00000141040 ENST00000395825;ENST00000395824 T;T 0.27104 1.69;1.69 5.32 5.32 0.75619 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.64402 D 0.000020 T 0.46580 0.1400 M 0.73430 2.235 0.41404 D 0.987697 D 0.62365 0.991 P 0.59221 0.854 T 0.50725 -0.8794 10 0.87932 D 0 . 13.5753 0.61870 0.0:0.0:0.0:1.0 . 396 Q9HBT7 ZN287_HUMAN E 403 ENSP00000379169:K403E;ENSP00000379168:K403E ENSP00000379168:K403E K - 1 0 ZNF287 16396974 1.000000 0.71417 0.995000 0.50966 0.603000 0.37013 4.002000 0.57053 2.371000 0.80710 0.533000 0.62120 AAA ZNF287-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000130504.1 - ENST00000395824.1 Missense_Mutation SNP PCPG-TCGA-S7-A7WQ-Normal-SM-5EMLK FAM107A 11170 broad.mit.edu 37 3 58552410 58552410 + Missense_Mutation SNP G G A TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr3:58552410G>A ENST00000447756.2 - 4.0 600 c.424C>T c.(424-426)Cca>Tca p.P142S FAM107A_ENST00000474531.1_Missense_Mutation_p.P145S|FAM107A_ENST00000464064.1_3'UTR|FAM107A_ENST00000394481.1_Missense_Mutation_p.P114S|FAM107A_ENST00000360997.2_Missense_Mutation_p.P114S O95990 F107A_HUMAN family with sequence similarity 107, member A 114.0 regulation of cell growth (GO:0001558) neuron projection (GO:0043005)|nucleus (GO:0005634) breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13.0 BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154) TCCTTCTCTGGTGGTTTTTCC 0.537 0 74.0 75.0 75.0 3 58552410.0 2203.0 4300.0 6503.0 SO:0001583 missense AF089854 CCDS2892.1, CCDS63672.1, CCDS63673.1 3p14.2 2006-02-03 ENSG00000168309 ENSG00000168309 11170.0 11170.0 30827.0 protein-coding gene gene with protein product 608295.0 10564580, 10702698 Standard NM_007177 XM_005264835 Approved DRR1, TU3A uc003dkn.3 O95990 OTTHUMG00000159159 ENST00000447756.2:c.424C>T 3.__UNKNOWN__:g.58552410G>A ENSP00000400858:p.Pro142Ser B3KNQ4|B7ZAY5|J3KR61|Q96NH4 __UNKNOWN__ . . . . . . . . . . G 9.483 1.098614 0.20552 . . ENSG00000168309 ENST00000360997;ENST00000394481;ENST00000474531;ENST00000447756 T;T;T;T 0.40476 1.03;1.03;1.03;1.03 5.06 4.13 0.48395 . 0.571544 0.19151 N 0.121451 T 0.34978 0.0916 L 0.44542 1.39 0.38369 D 0.94483 P;B;B 0.35033 0.481;0.245;0.126 B;B;B 0.36244 0.22;0.138;0.096 T 0.15752 -1.0426 10 0.11182 T 0.66 -26.1997 15.1263 0.72486 0.0:0.0:0.8586:0.1414 . 142;145;114 B7ZAY5;B3KNQ4;O95990 .;.;F107A_HUMAN S 114;114;145;142 ENSP00000354270:P114S;ENSP00000377991:P114S;ENSP00000419124:P145S;ENSP00000400858:P142S ENSP00000354270:P114S P - 1 0 FAM107A 58527450 0.968000 0.33430 0.684000 0.30055 0.359000 0.29487 1.836000 0.39191 2.520000 0.84964 0.563000 0.77884 CCA FAM107A-003 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000353584.1 - ENST00000447756.2 Missense_Mutation SNP PCPG-TCGA-S7-A7WQ-Normal-SM-5EMLK ATAD3B 83858 broad.mit.edu 37 1 1421933 1421933 + Missense_Mutation SNP C C A TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr1:1421933C>A ENST00000308647.7 + 11.0 1215 c.1099C>A c.(1099-1101)Ctg>Atg p.L367M NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 367.0 mitochondrial inner membrane (GO:0005743) ATP binding (GO:0005524) endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10.0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GAAACTCGCCCTGCACTCAGG 0.617 0 58.0 53.0 55.0 1 1421933.0 2191.0 4293.0 6484.0 SO:0001583 missense AL834179 CCDS30.1 1p36.33 2010-04-21 2007-02-08 ENSG00000160072 ENSG00000160072 83858.0 83858.0 """ATPases / AAA-type""" 24007.0 protein-coding gene gene with protein product 612317.0 10574462 Standard NM_031921 XM_005244806 Approved TOB3, KIAA1273 uc001afv.3 Q5T9A4 OTTHUMG00000000577 ENST00000308647.7:c.1099C>A 1.__UNKNOWN__:g.1421933C>A ENSP00000311766:p.Leu367Met A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7 __UNKNOWN__ CCDS30.1 . . . . . . . . . . . 1.451 -0.565141 0.03939 . . ENSG00000160072 ENST00000360489;ENST00000378737;ENST00000308647 D 0.92858 -3.12 2.07 0.929 0.19449 ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1); 0.252027 0.39020 N 0.001488 T 0.80864 0.4705 N 0.16656 0.425 0.80722 D 1 B;B 0.21821 0.05;0.061 B;B 0.19666 0.022;0.026 T 0.71971 -0.4431 10 0.39692 T 0.17 . 3.9497 0.09363 0.3823:0.3792:0.2385:0.0 . 321;367 Q5T9A4-3;Q5T9A4 .;ATD3B_HUMAN M 262;184;367 ENSP00000311766:L367M ENSP00000311766:L367M L + 1 2 ATAD3B 1411796 0.797000 0.28877 0.685000 0.30070 0.017000 0.09413 1.238000 0.32707 1.139000 0.42245 0.205000 0.17691 CTG ATAD3B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000001369.2 + ENST00000308647.7 Missense_Mutation SNP PCPG-TCGA-S7-A7WQ-Normal-SM-5EMLK IGF1R 3480 broad.mit.edu 37 15 99486194 99486194 + Missense_Mutation SNP G G A TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr15:99486194G>A ENST00000558762.1 + 19.0 4035 c.3497G>A c.(3496-3498)cGg>cAg p.R1166Q IGF1R_ENST00000268035.6_Missense_Mutation_p.R1167Q P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 1167.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165) caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713) 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) 63.0 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(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)""" GACTATTACCGGAAAGGAGGG 0.537 0 127.0 120.0 122.0 15 99486194.0 2197.0 4297.0 6494.0 SO:0001583 missense M69229 CCDS10378.1, CCDS73785.1 15q26.3 2013-02-11 ENSG00000140443 ENSG00000140443 3480.0 3480.0 """CD molecules"", ""Fibronectin type III domain containing""" 5465.0 protein-coding gene gene with protein product 147370.0 1316909 Standard NM_000875 XM_006720486 Approved JTK13, CD221, IGFIR, MGC18216, IGFR uc002bul.3 P08069 OTTHUMG00000149851 ENST00000558762.1:c.3497G>A 15.__UNKNOWN__:g.99486194G>A ENSP00000453007:p.Arg1166Gln B1B5Y2|Q14CV2|Q9UCC0 __UNKNOWN__ . . . . . . . . . . G 37 6.043351 0.97231 . . ENSG00000140443 ENST00000268035 D 0.82711 -1.64 5.65 5.65 0.86999 Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Tyrosine-protein kinase, receptor class II, conserved site (1);Protein kinase, catalytic domain (1); 0.000000 0.52532 D 0.000077 D 0.88566 0.6471 L 0.41710 1.295 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.993 D 0.89221 0.3571 10 0.87932 D 0 . 19.7272 0.96168 0.0:0.0:1.0:0.0 . 1166;1167 C9J5X1;P08069 .;IGF1R_HUMAN Q 1167 ENSP00000268035:R1167Q ENSP00000268035:R1167Q R + 2 0 IGF1R 97303717 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 9.835000 0.99442 2.646000 0.89796 0.655000 0.94253 CGG IGF1R-002 NOVEL NAGNAG_splice_site|basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000415271.1 + ENST00000558762.1 Missense_Mutation SNP PCPG-TCGA-S7-A7WQ-Normal-SM-5EMLK ARHGEF15 22899 broad.mit.edu 37 17 8215743 8215743 + Missense_Mutation SNP C C T TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr17:8215743C>T ENST00000361926.3 + 2.0 496 c.386C>T c.(385-387)aCg>aTg p.T129M ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T129M NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 129.0 Pro-rich. negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299) cytoplasm (GO:0005737)|dendrite (GO:0030425) GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37.0 TCACCCTGCACGCCTCTGCTC 0.672 0 68.0 70.0 69.0 17 8215743.0 2203.0 4300.0 6503.0 SO:0001583 missense AB020722 CCDS11139.1 17p13.1 2011-11-16 ENSG00000198844 ENSG00000198844 22899.0 22899.0 """Rho guanine nucleotide exchange factors""" 15590.0 protein-coding gene gene with protein product """Rho guanine exchange factor (GEF) 15""" 608504.0 10048485 Standard NM_173728 NM_173728 Approved KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868 uc002glc.3 O94989 OTTHUMG00000108187 ENST00000361926.3:c.386C>T 17.__UNKNOWN__:g.8215743C>T ENSP00000355026:p.Thr129Met A8K6G1|Q8N449|Q9H8B4 __UNKNOWN__ CCDS11139.1 . . . . . . . . . . C 0.624 -0.819827 0.02776 . . ENSG00000198844 ENST00000361926;ENST00000421050 T;T 0.71817 -0.6;-0.6 4.87 2.89 0.33648 . 2.365140 0.01590 N 0.021519 T 0.58018 0.2093 N 0.19112 0.55 0.09310 N 1 B;B 0.15930 0.015;0.015 B;B 0.09377 0.004;0.004 T 0.41787 -0.9489 10 0.28530 T 0.3 0.2461 7.6286 0.28226 0.0:0.8068:0.0:0.1932 . 129;129 D3DTR7;O94989 .;ARHGF_HUMAN M 129 ENSP00000355026:T129M;ENSP00000412505:T129M ENSP00000355026:T129M T + 2 0 ARHGEF15 8156468 0.000000 0.05858 0.003000 0.11579 0.015000 0.08874 0.784000 0.26816 0.672000 0.31204 -0.263000 0.10527 ACG ARHGEF15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000226993.2 + ENST00000361926.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WQ-Normal-SM-5EMLK FAM131C 348487 broad.mit.edu 37 1 16385168 16385169 + Frame_Shift_Ins INS - - G TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr1:16385168_16385169insG ENST00000375662.4 - 7.0 789_790 c.606_607insC c.(604-609)ccctcafs p.S203fs FAM131C_ENST00000494078.1_5'UTR NM_182623.2 NP_872429.2 Q96AQ9 F131C_HUMAN family with sequence similarity 131, member C 203.0 large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8.0 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;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) TCATCCTGTGAGGGGCCGCTGG 0.653 0 SO:0001589 frameshift_variant CCDS41270.1 1p36.13 2008-02-05 2007-03-20 2007-03-20 ENSG00000185519 ENSG00000185519 348487.0 348487.0 26717.0 protein-coding gene gene with protein product """chromosome 1 open reading frame 117""" C1orf117 12477932 Standard NM_182623 NM_182623 Approved FLJ36766 uc001axz.4 Q96AQ9 OTTHUMG00000009525 ENST00000375662.4:c.607dupC 1.__UNKNOWN__:g.16385172_16385172dupG ENSP00000364814:p.Ser203fs Q5T5Q5|Q8N3X3|Q8N9P9 __UNKNOWN__ CCDS41270.1 FAM131C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000026319.1 - ENST00000375662.4 Frame_Shift_Ins INS PCPG-TCGA-S7-A7WQ-Normal-SM-5EMLK SULT1E1 6783 broad.mit.edu 37 4 70713495 70713496 + Frame_Shift_Del DEL CA CA - TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr4:70713495_70713496delCA ENST00000226444.3 - 6.0 623_624 c.511_512delTG c.(511-513)tggfs p.W171fs NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 171.0 3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10.0 Acetaminophen(DB00316)|Cyclizine(DB01176) ATGTTTATACCAGGAACCATAA 0.366 0 SO:0001589 frameshift_variant BC027956 CCDS3531.1 4q13.1 2008-02-05 2004-02-06 2004-02-04 ENSG00000109193 ENSG00000109193 6783.0 6783.0 2.8.2.4 """Sulfotransferases, cytosolic""" 11377.0 protein-coding gene gene with protein product 600043.0 """sulfotransferase, estrogen-preferring""" STE 7961757 Standard NM_005420 NM_005420 Approved EST uc003heo.3 P49888 OTTHUMG00000129403 ENST00000226444.3:c.511_512delTG 4.__UNKNOWN__:g.70713495_70713496delCA ENSP00000226444:p.Trp171fs Q8N6X5 __UNKNOWN__ CCDS3531.1 SULT1E1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251559.1 - ENST00000226444.3 Frame_Shift_Del DEL PCPG-TCGA-S7-A7WQ-Normal-SM-5EMLK Unknown 0 bcgsc.ca 37 2 175366711 175366711 + RNA SNP G G A TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr2:175366711G>A AC010894.3 (13827 upstream) : AC018890.6 (45157 downstream) CCCAGGTTGCGCATCAACGCT 0.453 G 1.0 0.0005 2184.0 0.0017 0.9999 , , 0.0003 0.0005 0.889 LOWCOV 0.005 SNP 0 SO:0001628 intergenic_variant 2.__UNKNOWN__:g.175366711G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-S7-A7WQ-Normal-SM-5EMLK Unknown 0 bcgsc.ca 37 1 80917231 80917231 + RNA SNP A A T TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr1:80917231A>T RP11-339D23.1 (76925 upstream) : RP11-115A15.1 (83431 downstream) AGTCATGGTCATCAAAGGTTA 0.383 0 SO:0001628 intergenic_variant 1.__UNKNOWN__:g.80917231A>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-S7-A7WQ-Normal-SM-5EMLK DNAH8 1769 broad.mit.edu 37 6 38841074 38841074 + Silent SNP C C T TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr6:38841074C>T ENST00000359357.3 + 50.0 7145 c.6891C>T c.(6889-6891)gtC>gtT p.V2297V DNAH8_ENST00000449981.2_Silent_p.V2514V|DNAH8_ENST00000441566.1_Silent_p.V2261V Q96JB1 DYH8_HUMAN dynein, axonemal, heavy chain 8 2297.0 AAA 2. {ECO:0000250}. cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) 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) 260.0 ATGAGAAAGTCTTTGAAGATA 0.368 0 96.0 87.0 90.0 6 38841074.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant Z83806 CCDS75447.1 6p21.2 2012-04-19 2006-09-04 ENSG00000124721 ENSG00000124721 1769.0 1769.0 """Axonemal dyneins""" 2952.0 protein-coding gene gene with protein product 603337.0 """dynein, axonemal, heavy polypeptide 8""" 9373155 Standard NM_001206927 NM_001206927 Approved hdhc9 uc021yzh.1 Q96JB1 OTTHUMG00000016253 ENST00000359357.3:c.6891C>T 6.__UNKNOWN__:g.38841074C>T O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4 __UNKNOWN__ DNAH8-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000043574.1 + ENST00000359357.3 Silent SNP PCPG-TCGA-S7-A7WR-Normal-SM-5EMMX LPCAT2 54947 broad.mit.edu 37 16 55579653 55579653 + Missense_Mutation SNP C C T TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr16:55579653C>T ENST00000262134.5 + 9.0 1043 c.859C>T c.(859-861)Cca>Tca p.P287S NM_017839.4 NP_060309.2 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 287.0 glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509) endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 12.0 TCAGTTTATGCCAGTTCAAGT 0.289 0 95.0 95.0 95.0 16 55579653.0 2198.0 4300.0 6498.0 SO:0001583 missense AK000488 CCDS10753.1 16q12.2 2013-01-10 2007-12-17 2007-12-17 ENSG00000087253 ENSG00000087253 54947.0 54947.0 """EF-hand domain containing""" 26032.0 protein-coding gene gene with protein product 612040.0 """acyltransferase like 1""" AYTL1 16704971 Standard NM_017839 NM_017839 Approved FLJ20481 uc002eie.4 Q7L5N7 OTTHUMG00000133238 ENST00000262134.5:c.859C>T 16.__UNKNOWN__:g.55579653C>T ENSP00000262134:p.Pro287Ser A3KBM1|Q6MZJ6|Q9NX23 __UNKNOWN__ CCDS10753.1 . . . . . . . . . . C 28.6 4.935213 0.92458 . . ENSG00000087253 ENST00000262134 D 0.93906 -3.31 6.02 6.02 0.97574 . 0.000000 0.85682 D 0.000000 D 0.97192 0.9082 M 0.93898 3.47 0.80722 D 1 D 0.65815 0.995 P 0.55965 0.788 D 0.97520 1.0072 10 0.87932 D 0 -16.5825 20.1358 0.98028 0.0:1.0:0.0:0.0 . 287 Q7L5N7 PCAT2_HUMAN S 287 ENSP00000262134:P287S ENSP00000262134:P287S P + 1 0 LPCAT2 54137154 1.000000 0.71417 1.000000 0.80357 0.975000 0.68041 4.876000 0.63079 2.865000 0.98341 0.655000 0.94253 CCA LPCAT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256977.2 + ENST00000262134.5 Missense_Mutation SNP PCPG-TCGA-S7-A7WR-Normal-SM-5EMMX IGFN1 91156 broad.mit.edu 37 1 201195003 201195003 + Missense_Mutation SNP C C T rs6690992 byFrequency TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr1:201195003C>T ENST00000335211.4 + 22.0 10668 c.10538C>T c.(10537-10539)aCg>aTg p.T3513M IGFN1_ENST00000295591.8_Missense_Mutation_p.R608W NM_001164586.1 NP_001158058.1 Q86VF2 IGFN1_HUMAN immunoglobulin-like and fibronectin type III domain containing 1 1056.0 nucleus (GO:0005634)|Z disc (GO:0030018) 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) 45.0 GTGCCTGGGACGGTGACGGCC 0.687 0 C MET/THR 15,4391 21.2+/-45.6 0,15,2188 44.0 42.0 42.0 10538 4.3 0.3 1 dbSNP_116 42.0 0,8600 0,0,4300 yes missense IGFN1 NM_001164586.1 81 0,15,6488 TT,TC,CC 0.0,0.3404,0.1153 probably-damaging 3513/3709 201195003.0 15,12991 2203.0 4300.0 6503.0 SO:0001583 missense AY245430 CCDS53455.1 1q32.1 2013-02-11 ENSG00000163395 ENSG00000163395 91156.0 91156.0 """Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 24607.0 protein-coding gene gene with protein product Standard NM_178275 NM_001164586 Approved DKFZp434B1231, EEF1A2BP1 uc001gwc.3 Q86VF2 OTTHUMG00000035728 ENST00000335211.4:c.10538C>T 1.__UNKNOWN__:g.201195003C>T ENSP00000334714:p.Thr3513Met F8WAI1|Q9NT72 __UNKNOWN__ CCDS53455.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 16.07|16.07 3.018763|3.018763 0.54576|0.54576 0.003404|0.003404 0.0|0.0 ENSG00000163395|ENSG00000163395 ENST00000295591|ENST00000335211 T|T 0.54279|0.59502 0.58|0.26 5.19|5.19 4.28|4.28 0.50868|0.50868 .|. .|0.188693 .|0.46145 .|N .|0.000309 T|T 0.76463|0.76463 0.3991|0.3991 M|M 0.88906|0.88906 2.99|2.99 0.24915|0.24915 N|N 0.992015|0.992015 .|D .|0.67145 .|0.996 .|D .|0.66979 .|0.948 T|T 0.70342|0.70342 -0.4898|-0.4898 7|10 0.87932|0.87932 D|D 0|0 .|. 10.6607|10.6607 0.45700|0.45700 0.0:0.8459:0.0:0.1541|0.0:0.8459:0.0:0.1541 rs6690992;rs6690992|rs6690992;rs6690992 .|3513 .|F8WAI1 .|. W|M 608|3513 ENSP00000295591:R608W|ENSP00000334714:T3513M ENSP00000295591:R608W|ENSP00000334714:T3513M R|T +|+ 1|2 2|0 IGFN1|IGFN1 199461626|199461626 0.991000|0.991000 0.36638|0.36638 0.313000|0.313000 0.25210|0.25210 0.437000|0.437000 0.31866|0.31866 3.586000|3.586000 0.53950|0.53950 1.425000|1.425000 0.47237|0.47237 0.561000|0.561000 0.74099|0.74099 CGG|ACG IGFN1-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding + ENST00000335211.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WR-Normal-SM-5EMMX PDE4DIP 9659 broad.mit.edu 37 1 144856986 144856986 + Missense_Mutation SNP C C A TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr1:144856986C>A ENST00000530740.1 - 42.0 6792 c.6754G>T c.(6754-6756)Gct>Tct p.A2252S PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2167S|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2061S|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2303S|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.A2167S Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2167.0 cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) 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) 176.0 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CCATCAGTAGCATCACCCTCT 0.473 T PDGFRB MPD Dom yes 1 1q12 9659.0 phosphodiesterase 4D interacting protein (myomegalin) L 0 85.0 80.0 81.0 1 144856986.0 2203.0 4296.0 6499.0 SO:0001583 missense AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659.0 9659.0 15580.0 protein-coding gene gene with protein product """myomegalin""" 608117.0 """cardiomyopathy associated 2""" CMYA2 9455484, 11134006 Standard NM_022359 NM_022359 Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.6754G>T 1.__UNKNOWN__:g.144856986C>A ENSP00000435654:p.Ala2252Ser A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. 19.19|19.19 3.780128|3.780128 0.70222|0.70222 .|. .|. ENSG00000178104|ENSG00000178104 ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130 T;T;T;T;T|. 0.01963|. 4.53;4.57;4.57;4.64;4.58|. 4.48|4.48 3.49|3.49 0.39957|0.39957 .|. .|. .|. .|. .|. T|T 0.47116|0.47116 0.1428|0.1428 L|L 0.46741|0.46741 1.465|1.465 0.80722|0.80722 D|D 1|1 P;D|. 0.71674|. 0.873;0.998|. P;D|. 0.77004|. 0.619;0.989|. T|T 0.41716|0.41716 -0.9493|-0.9493 8|5 .|. .|. .|. .|. 11.2416|11.2416 0.48972|0.48972 0.1837:0.8163:0.0:0.0|0.1837:0.8163:0.0:0.0 .|. 2061;2167|. Q5VU43-3;Q5VU43|. .;MYOME_HUMAN|. S|I 2061;2167;2167;2252;2303|243 ENSP00000327209:A2061S;ENSP00000358360:A2167S;ENSP00000358363:A2167S;ENSP00000435654:A2252S;ENSP00000358366:A2303S|. .|. A|M -|- 1|3 0|0 PDE4DIP|PDE4DIP 143568343|143568343 0.996000|0.996000 0.38824|0.38824 0.933000|0.933000 0.37362|0.37362 0.944000|0.944000 0.59088|0.59088 3.593000|3.593000 0.54001|0.54001 2.237000|2.237000 0.73441|0.73441 0.449000|0.449000 0.29647|0.29647 GCT|ATG PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000384663.2 - ENST00000530740.1 Missense_Mutation SNP PCPG-TCGA-S7-A7WR-Normal-SM-5EMMX HRAS 3265 broad.mit.edu 37 11 533875 533875 + Missense_Mutation SNP G G T rs28933406 TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr11:533875G>T ENST00000451590.1 - 3.0 368 c.181C>A c.(181-183)Cag>Aag p.Q61K HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61K NM_001130442.1|NM_005343.2 NP_001123914.1|NP_005334.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61.0 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022) p.Q61K(61)|p.Q61R(1)|p.Q61E(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901.0 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) TACTCCTCCTGGCCGGCGGTA 0.597 6.0 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) yes Dom yes Costello syndrome 11 11p15.5 3265.0 v-Ha-ras Harvey rat sarcoma viral oncogene homolog """E, L, M""" 63 Substitution - Missense(63) thyroid(23)|skin(18)|urinary_tract(8)|upper_aerodigestive_tract(4)|soft_tissue(4)|testis(2)|lung(2)|cervix(1)|kidney(1) 117.0 102.0 107.0 11 533875.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Facio-Cutaneous-Skeletal syndrome AJ437024 CCDS7698.1, CCDS7699.1 11p15.5 2014-09-17 2013-07-08 ENSG00000174775 ENSG00000174775 3265.0 3265.0 5173.0 protein-coding gene gene with protein product 190020.0 """v-Ha-ras Harvey rat sarcoma viral oncogene homolog""" HRAS1 Standard NM_176795 NM_176795 Approved uc010qvx.2 P01112 OTTHUMG00000131919 ENST00000451590.1:c.181C>A 11.__UNKNOWN__:g.533875G>T ENSP00000407586:p.Gln61Lys B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2 __UNKNOWN__ CCDS7698.1 . . . . . . . . . . G 15.51 2.855718 0.51376 . . ENSG00000174775 ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189 D;D;D;D;D 0.83506 -1.73;-1.73;-1.73;-1.73;-1.73 3.64 3.64 0.41730 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.88644 0.6492 H 0.96604 3.85 0.80722 D 1 B;B 0.19073 0.033;0.012 B;B 0.19391 0.015;0.025 D 0.89618 0.3846 10 0.62326 D 0.03 . 14.8426 0.70237 0.0:0.0:1.0:0.0 rs28933406 61;61 P01112-2;P01112 .;RASH_HUMAN K 61 ENSP00000380722:Q61K;ENSP00000380723:Q61K;ENSP00000407586:Q61K;ENSP00000388246:Q61K;ENSP00000309845:Q61K ENSP00000309845:Q61K Q - 1 0 HRAS 523875 1.000000 0.71417 0.987000 0.45799 0.459000 0.32528 9.476000 0.97823 2.045000 0.60652 0.561000 0.74099 CAG HRAS-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259403.2 - ENST00000451590.1 Missense_Mutation SNP PCPG-TCGA-S7-A7WR-Normal-SM-5EMMX STRC 161497 broad.mit.edu 37 15 43892822 43892822 + Missense_Mutation SNP C C A rs2915791 TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr15:43892822C>A ENST00000450892.2 - 26.0 4980 c.4903G>T c.(4903-4905)Gtt>Ttt p.V1635F STRC_ENST00000541030.1_Missense_Mutation_p.V862F NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1635.0 auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910) kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426) skin(4) 4.0 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TGGGCCAGAACCTCCAGTTGT 0.542 0 C PHE/VAL 1,4399 2.1+/-5.4 0,1,2199 60.0 62.0 61.0 4903 3.8 1.0 15 dbSNP_101 61.0 2,8592 1.2+/-3.3 0,2,4295 no missense STRC NM_153700.2 50 0,3,6494 AA,AC,CC 0.0233,0.0227,0.0231 benign 1635/1776 43892822.0 3,12991 2200.0 4297.0 6497.0 SO:0001583 missense BK000138 CCDS10098.1 15q15.3 2010-02-26 ENSG00000242866 ENSG00000242866 161497.0 161497.0 16035.0 protein-coding gene gene with protein product 606440.0 DFNB16 11687802, 9429146 Standard NM_153700 NM_153700 Approved uc001zsf.3 Q7RTU9 OTTHUMG00000059899 ENST00000450892.2:c.4903G>T 15.__UNKNOWN__:g.43892822C>A ENSP00000401513:p.Val1635Phe __UNKNOWN__ CCDS10098.1 . . . . . . . . . . c 12.59 1.984055 0.35036 2.27E-4 2.33E-4 ENSG00000242866 ENST00000450892;ENST00000299992;ENST00000541030 T;T 0.76839 -1.05;-1.05 4.75 3.83 0.44106 . 0.836584 0.10060 N 0.721024 T 0.81226 0.4778 . . . 0.35600 D 0.807751 D;P 0.58268 0.982;0.573 P;B 0.55615 0.78;0.165 T 0.78700 -0.2102 9 0.34782 T 0.22 -2.2408 9.0452 0.36343 0.0:0.8996:0.0:0.1004 rs2915791;rs2927069;rs2915791 862;1635 F5GXA4;Q7RTU9 .;STRC_HUMAN F 1635;1635;862 ENSP00000401513:V1635F;ENSP00000440413:V862F ENSP00000299992:V1635F V - 1 0 STRC 41680114 0.995000 0.38212 1.000000 0.80357 0.915000 0.54546 1.310000 0.33551 1.369000 0.46134 0.313000 0.20887 GTT STRC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000133140.1 - ENST00000450892.2 Missense_Mutation SNP PCPG-TCGA-S7-A7WR-Normal-SM-5EMMX KRT71 112802 broad.mit.edu 37 12 52943841 52943841 + Missense_Mutation SNP G G A TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr12:52943841G>A ENST00000267119.5 - 2.0 697 c.628C>T c.(628-630)Cgg>Tgg p.R210W NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 210.0 Coil 1B.|Rod. R -> Q (in Ref. 5; AAI03919). {ECO:0000305}. hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109) extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22.0 BRCA - Breast invasive adenocarcinoma(357;0.194) ACTACGTCCCGCACATTCCTC 0.622 0 179.0 160.0 167.0 12 52943841.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ308600 CCDS8831.1 12q13.13 2013-01-16 ENSG00000139648 ENSG00000139648 112802.0 112802.0 """-"", ""Intermediate filaments type II, keratins (basic)""" 28927.0 protein-coding gene gene with protein product 608245.0 11982755, 12648212, 16831889 Standard NM_033448 NM_033448 Approved KRT6IRS, KRT6IRS1, K6IRS1 uc001sao.3 Q3SY84 OTTHUMG00000167831 ENST00000267119.5:c.628C>T 12.__UNKNOWN__:g.52943841G>A ENSP00000267119:p.Arg210Trp B3KVC1|Q3SY85|Q96DU2 __UNKNOWN__ CCDS8831.1 . . . . . . . . . . G 13.81 2.348855 0.41599 . . ENSG00000139648 ENST00000267119 D 0.91295 -2.82 5.61 4.71 0.59529 Filament (1); 0.000000 0.42294 D 0.000731 D 0.94751 0.8306 M 0.83603 2.65 0.37548 D 0.918593 D 0.89917 1.0 D 0.72338 0.977 D 0.95998 0.8991 10 0.87932 D 0 . 10.6686 0.45745 0.0686:0.0:0.7983:0.1331 . 210 Q3SY84 K2C71_HUMAN W 210 ENSP00000267119:R210W ENSP00000267119:R210W R - 1 2 KRT71 51230108 0.000000 0.05858 0.478000 0.27316 0.037000 0.13140 0.599000 0.24089 1.493000 0.48517 0.561000 0.74099 CGG KRT71-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000396487.1 - ENST00000267119.5 Missense_Mutation SNP PCPG-TCGA-S7-A7WR-Normal-SM-5EMMX KIF2A 3796 ucsc.edu 37 5 61668287 61668287 + Missense_Mutation SNP C C T TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr5:61668287C>T ENST00000381103.2 + 18.0 2071 KIF2A_ENST00000407818.3_Missense_Mutation_p.P557S|KIF2A_ENST00000506857.1_Intron|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000401507.3_Intron NM_001243952.1 NP_001230881.1 O00139 KIF2A_HUMAN kinesin heavy chain member 2A antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399) centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774) NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 15.0 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) TGGAATTAGTCCATCAGACAT 0.413 0 95.0 89.0 91.0 5 61668287.0 1860.0 4108.0 5968.0 SO:0001627 intron_variant BC031828 CCDS3980.2, CCDS47216.1, CCDS58949.1 5q12-q13 2008-02-05 2006-09-26 2006-09-26 ENSG00000068796 ENSG00000068796 3796.0 3796.0 """Kinesins""" 6318.0 protein-coding gene gene with protein product 602591 """kinesin heavy chain member 2""" KIF2 9177777 Standard NM_004520 NM_001098511 Approved HK2 uc003jsz.4 O00139 OTTHUMG00000097755 ENST00000381103.2:c.1587-1227C>T 5.__UNKNOWN__:g.61668287C>T A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7 __UNKNOWN__ CCDS58949.1 . . . . . . . . . . C 22.6 4.311595 0.81358 . . ENSG00000068796 ENST00000407818 T 0.74842 -0.88 4.97 4.97 0.65823 . . . . . T 0.72003 0.3407 N 0.08118 0 0.80722 D 1 D 0.67145 0.996 D 0.75484 0.986 T 0.67875 -0.5557 9 0.10902 T 0.67 . 18.4316 0.90627 0.0:1.0:0.0:0.0 . 557 O00139-4 . S 557 ENSP00000385000:P557S ENSP00000385000:P557S P + 1 0 KIF2A 61704044 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.626000 0.83164 2.587000 0.87381 0.655000 0.94253 CCA KIF2A-001 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000214988.2 + ENST00000381103.2 Intron SNP PCPG-TCGA-S7-A7WR-Normal-SM-5EMMX OSGEP 55644 ucsc.edu 37 14 20920580 20920580 + Missense_Mutation SNP T T A TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr14:20920580T>A ENST00000206542.4 - 2.0 564 c.143A>T c.(142-144)cAt>cTt p.H48L OSGEP_ENST00000556252.1_5'UTR NM_017807.3 NP_060277.1 O-sialoglycoprotein endopeptidase endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1) 11.0 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196) AGCTCGGTGATGCCTGGCTGT 0.468 0 126.0 111.0 116.0 14 20920580.0 2203.0 4300.0 6503.0 SO:0001583 missense AB050442 CCDS9549.1 14q12 2010-03-19 ENSG00000092094 ENSG00000092094 55644.0 55644.0 3.4.24.57 18028.0 protein-coding gene gene with protein product 610107 12039036 Standard NM_017807 NM_017807 Approved PRSMG1, GCPL1, OSGEP1, KAE1 uc001vxf.3 Q9NPF4 OTTHUMG00000029543 ENST00000206542.4:c.143A>T 14.__UNKNOWN__:g.20920580T>A ENSP00000206542:p.His48Leu __UNKNOWN__ CCDS9549.1 . . . . . . . . . . T 23.8 4.456632 0.84317 . . ENSG00000092094 ENST00000206542;ENST00000553640;ENST00000488532 T;T;T 0.44881 0.91;0.91;0.91 5.65 5.65 0.86999 Peptidase M22, glycoprotease (1); 0.000000 0.85682 D 0.000000 T 0.71484 0.3345 M 0.92122 3.275 0.80722 D 1 D 0.67145 0.996 D 0.68621 0.959 T 0.79546 -0.1759 10 0.87932 D 0 -18.4316 14.8529 0.70313 0.0:0.0:0.0:1.0 . 48 Q9NPF4 OSGEP_HUMAN L 48 ENSP00000206542:H48L;ENSP00000451580:H48L;ENSP00000450507:H48L ENSP00000206542:H48L H - 2 0 OSGEP 19990420 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 7.177000 0.77650 2.151000 0.67156 0.533000 0.62120 CAT OSGEP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000073635.3 - ENST00000206542.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WR-Normal-SM-5EMMX PIK3R4 30849 ucsc.edu 37 3 130409461 130409461 + Missense_Mutation SNP T T C TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr3:130409461T>C ENST00000356763.3 - 14.0 3693 c.3136A>G c.(3136-3138)Aag>Gag p.K1046E PIK3R4_ENST00000512677.1_5'UTR NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 1046.0 innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224) axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77.0 GTGAGCGTCTTGACTCGTCCT 0.408 0 108.0 103.0 105.0 3 130409461.0 2203.0 4300.0 6503.0 SO:0001583 missense Y08991 CCDS3067.1 3q22.1 2013-01-10 2008-02-04 ENSG00000196455 ENSG00000196455 30849.0 30849.0 """WD repeat domain containing""" 8982.0 protein-coding gene gene with protein product 602610 8999962 Standard NM_014602 NM_014602 Approved VPS15, p150 uc003enj.3 Q99570 OTTHUMG00000159645 ENST00000356763.3:c.3136A>G 3.__UNKNOWN__:g.130409461T>C ENSP00000349205:p.Lys1046Glu Q2TBF4 __UNKNOWN__ CCDS3067.1 . . . . . . . . . . T 14.05 2.419696 0.42918 . . ENSG00000196455 ENST00000356763 T 0.01323 5.01 5.06 5.06 0.68205 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.205916 0.49916 D 0.000122 T 0.02156 0.0067 L 0.53249 1.67 0.51482 D 0.999921 B 0.28552 0.215 B 0.18263 0.021 T 0.58183 -0.7681 10 0.31617 T 0.26 -17.8508 14.8045 0.69942 0.0:0.0:0.0:1.0 . 1046 Q99570 PI3R4_HUMAN E 1046 ENSP00000349205:K1046E ENSP00000349205:K1046E K - 1 0 PIK3R4 131892151 1.000000 0.71417 0.994000 0.49952 0.971000 0.66376 6.029000 0.70895 1.910000 0.55303 0.379000 0.24179 AAG PIK3R4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356668.1 - ENST00000356763.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WR-Normal-SM-5EMMX ASB9 140462 broad.mit.edu 37 X 15267054 15267054 + Missense_Mutation SNP G G A TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chrX:15267054G>A ENST00000380488.4 - 6.0 845 c.572C>T c.(571-573)gCg>gTg p.A191V ASB9_ENST00000546332.1_Missense_Mutation_p.A191V|ASB9_ENST00000380485.3_Missense_Mutation_p.A191V|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.A181V NM_001031739.2 NP_001026909.1 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box containing 9 191.0 intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567) mitochondrion (GO:0005739) breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10) 15.0 Hepatocellular(33;0.183) GTTCACGTCCGCTCCTAAACA 0.532 0 52.0 44.0 47.0 X 15267054.0 2203.0 4300.0 6503.0 SO:0001583 missense AK000643 CCDS14163.1, CCDS35208.1, CCDS55372.1 Xp22.2 2013-01-10 2011-01-25 ENSG00000102048 ENSG00000102048 140462.0 140462.0 """Ankyrin repeat domain containing""" 17184.0 protein-coding gene gene with protein product 300890.0 """ankyrin repeat and SOCS box-containing 9""" 12076535 Standard NM_001031739 Approved DKFZP564L0862, MGC4954, FLJ20636 uc004cwl.3 Q96DX5 OTTHUMG00000021172 ENST00000380488.4:c.572C>T X.__UNKNOWN__:g.15267054G>A ENSP00000369855:p.Ala191Val A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3 __UNKNOWN__ CCDS35208.1 . . . . . . . . . . G 11.18 1.562092 0.27915 . . ENSG00000102048 ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332 T;T;T;T 0.80653 -1.4;0.19;0.19;0.19 5.83 3.1 0.35709 Ankyrin repeat-containing domain (4); 0.150635 0.64402 N 0.000015 D 0.85699 0.5757 M 0.66560 2.04 0.47819 D 0.999526 P;D;D;D 0.63046 0.488;0.986;0.991;0.992 B;D;P;P 0.63113 0.228;0.911;0.6;0.711 D 0.84168 0.0432 10 0.66056 D 0.02 -5.3201 10.2401 0.43308 0.2224:0.0:0.7776:0.0 . 162;181;191;191 Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2 .;.;ASB9_HUMAN;. V 181;191;191;191 ENSP00000369850:A181V;ENSP00000369852:A191V;ENSP00000369855:A191V;ENSP00000438943:A191V ENSP00000369850:A181V A - 2 0 ASB9 15176975 1.000000 0.71417 0.253000 0.24343 0.005000 0.04900 3.272000 0.51616 0.216000 0.20781 0.600000 0.82982 GCG ASB9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055844.1 - ENST00000380488.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 MDC1 9656 broad.mit.edu 37 6 30680011 30680011 + Missense_Mutation SNP C C T TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr6:30680011C>T ENST00000376406.3 - 5.0 2355 c.1708G>A c.(1708-1710)Gcc>Acc p.A570T MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.A570T NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 570.0 DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573) chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022) breast(2)|kidney(1)|ovary(1) 4.0 AGAGGCCAGGCTTCCTCTAGA 0.507 Other conserved DNA damage response genes 0 62.0 61.0 61.0 6 30680011.0 1510.0 2709.0 4219.0 SO:0001583 missense D79992 CCDS34384.1 6p21.3 2010-02-17 2009-06-12 ENSG00000137337 ENSG00000137337 9656.0 9656.0 21163.0 protein-coding gene gene with protein product 607593.0 10975465, 12607005 Standard NM_014641 NM_014641 Approved NFBD1, KIAA0170, Em:AB023051.5 uc003nrg.4 Q14676 OTTHUMG00000031075 ENST00000376406.3:c.1708G>A 6.__UNKNOWN__:g.30680011C>T ENSP00000365588:p.Ala570Thr A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2 __UNKNOWN__ CCDS34384.1 . . . . . . . . . . C 11.27 1.589901 0.28357 . . ENSG00000137337 ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104 T;T 0.03181 4.11;4.02 4.27 2.45 0.29901 . 0.747973 0.10971 N 0.613820 T 0.02047 0.0064 L 0.56769 1.78 0.09310 N 1 B;B;P;B 0.47409 0.244;0.037;0.895;0.037 B;B;P;B 0.44518 0.082;0.033;0.452;0.018 T 0.45659 -0.9246 10 0.52906 T 0.07 0.0043 5.5226 0.16941 0.0:0.6851:0.2038:0.1111 . 570;442;570;570 Q14676-2;B4DYH4;Q14676;Q14676-4 .;.;MDC1_HUMAN;. T 570;570;570;442 ENSP00000365588:A570T;ENSP00000365587:A570T ENSP00000365587:A570T A - 1 0 MDC1 30787990 0.000000 0.05858 0.009000 0.14445 0.033000 0.12548 -0.210000 0.09345 0.429000 0.26202 0.462000 0.41574 GCC MDC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000076103.1 - ENST00000376406.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 RPL34 6164 broad.mit.edu 37 4 109543293 109543293 + Missense_Mutation SNP T T G TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr4:109543293T>G ENST00000394668.2 + 3.0 164 c.98T>G c.(97-99)cTt>cGt p.L33R RPL34_ENST00000506397.1_Missense_Mutation_p.L33R|RPL34_ENST00000394667.3_Missense_Mutation_p.L33R|RPL34_ENST00000502534.1_Missense_Mutation_p.L33R|RPL34_ENST00000394665.1_Missense_Mutation_p.L33R NM_033625.2 NP_296374.1 P49207 RL34_HUMAN ribosomal protein L34 33.0 cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730) RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) kidney(2)|lung(1)|upper_aerodigestive_tract(1) 4.0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000286) ATTGTTTACCTTTATACCAAG 0.413 0 65.0 71.0 69.0 4 109543293.0 2203.0 4300.0 6503.0 SO:0001583 missense AB007181 CCDS3680.1 4q25 2011-04-06 ENSG00000109475 ENSG00000109475 6164.0 6164.0 """L ribosomal proteins""" 10340.0 protein-coding gene gene with protein product 9582194, 7490091 Standard NM_033625, NM_000995 XM_005263172 Approved L34 uc003hyz.3 P49207 OTTHUMG00000131839 ENST00000394668.2:c.98T>G 4.__UNKNOWN__:g.109543293T>G ENSP00000378163:p.Leu33Arg Q6FG66|Q9BUZ2 __UNKNOWN__ CCDS3680.1 . . . . . . . . . . T 23.6 4.440189 0.83993 . . ENSG00000109475 ENST00000394667;ENST00000502534;ENST00000394665;ENST00000506397;ENST00000394668 . . . 5.22 5.22 0.72569 . 0.000000 0.85682 D 0.000000 T 0.74831 0.3768 L 0.58302 1.8 0.80722 D 1 D 0.63046 0.992 D 0.67382 0.951 T 0.77405 -0.2600 9 0.66056 D 0.02 . 15.077 0.72084 0.0:0.0:0.0:1.0 . 33 P49207 RL34_HUMAN R 33 . ENSP00000378160:L33R L + 2 0 RPL34 109762742 1.000000 0.71417 0.992000 0.48379 0.987000 0.75469 7.647000 0.83462 2.092000 0.63282 0.533000 0.62120 CTT RPL34-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000363468.1 + ENST00000394668.2 Missense_Mutation SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 BTBD10 84280 broad.mit.edu 37 11 13441043 13441043 + Missense_Mutation SNP G G C TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr11:13441043G>C ENST00000530907.1 - 3.0 842 c.572C>G c.(571-573)tCc>tGc p.S191C BTBD10_ENST00000278174.5_Missense_Mutation_p.S183C|BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000528120.1_Missense_Mutation_p.S135C Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 183.0 BTB.|Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}. nucleus (GO:0005634) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20.0 Epithelial(150;0.0214) AGTAAAAATGGATGGGTCTAC 0.338 0 124.0 128.0 127.0 11 13441043.0 2200.0 4294.0 6494.0 SO:0001583 missense AY221959 CCDS7811.1, CCDS73261.1 11p15.2 2013-01-24 ENSG00000148925 ENSG00000148925 84280.0 84280.0 """BTB/POZ domain containing""" 21445.0 protein-coding gene gene with protein product 615933.0 15556295 Standard NM_032320 XM_005253164 Approved GMRP1, GMRP-1, MGC13007 uc001mkz.3 Q9BSF8 OTTHUMG00000165787 ENST00000530907.1:c.572C>G 11.__UNKNOWN__:g.13441043G>C ENSP00000431186:p.Ser191Cys B7Z228|Q86WG1 __UNKNOWN__ . . . . . . . . . . G 21.9 4.220020 0.79464 . . ENSG00000148925 ENST00000278174;ENST00000530907;ENST00000528120 T;T;T 0.50277 0.75;0.75;0.75 5.42 5.42 0.78866 BTB/POZ-like (1);BTB/POZ fold (2); 0.000000 0.85682 D 0.000000 T 0.66307 0.2776 M 0.64170 1.965 0.58432 D 0.999999 D;D;D;D 0.71674 0.998;0.998;0.998;0.998 P;D;D;D 0.64595 0.874;0.927;0.927;0.927 T 0.68644 -0.5354 10 0.72032 D 0.01 -49.2739 18.8084 0.92048 0.0:0.0:1.0:0.0 . 152;191;183;183 B7Z2J1;B7Z228;D3DQW7;Q9BSF8 .;.;.;BTBDA_HUMAN C 183;191;135 ENSP00000278174:S183C;ENSP00000431186:S191C;ENSP00000435257:S135C ENSP00000278174:S183C S - 2 0 BTBD10 13397619 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.727000 0.84838 2.534000 0.85438 0.650000 0.86243 TCC BTBD10-005 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000386202.1 - ENST00000530907.1 Missense_Mutation SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 TM9SF4 9777 broad.mit.edu 37 20 30732974 30732974 + Nonsense_Mutation SNP G G T TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr20:30732974G>T ENST00000398022.2 + 7.0 968 c.733G>T c.(733-735)Gag>Tag p.E245* TM9SF4_ENST00000217315.5_Nonsense_Mutation_p.E228* NM_014742.3 NP_055557.2 Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 245.0 integral component of membrane (GO:0016021) central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20.0 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCCCACCAAGGAGAATCAGCT 0.557 0 130.0 113.0 119.0 20 30732974.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained BC021107 CCDS13196.2 20q11.21 2004-04-19 ENSG00000101337 ENSG00000101337 9777.0 9777.0 30797.0 protein-coding gene gene with protein product 9039502 Standard NM_014742 NM_014742 Approved KIAA0255, dJ836N17.2 uc002wxj.2 Q92544 OTTHUMG00000032206 ENST00000398022.2:c.733G>T 20.__UNKNOWN__:g.30732974G>T ENSP00000381104:p.Glu245* B0QYT7|Q9NUA3 __UNKNOWN__ CCDS13196.2 . . . . . . . . . . G 39 7.329571 0.98214 . . ENSG00000101337 ENST00000398022;ENST00000421148;ENST00000217315 . . . 5.51 5.51 0.81932 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.27785 T 0.31 -13.8986 17.783 0.88529 0.0:0.0:1.0:0.0 . . . . X 245;171;228 . ENSP00000217315:E228X E + 1 0 TM9SF4 30196635 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 5.910000 0.69931 2.873000 0.98535 0.561000 0.74099 GAG TM9SF4-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000323568.1 + ENST00000398022.2 Nonsense_Mutation SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 A2M 2 broad.mit.edu 37 12 9242536 9242536 + Missense_Mutation SNP C C T TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr12:9242536C>T ENST00000318602.7 - 21.0 2987 c.2680G>A c.(2680-2682)Gga>Aga p.G894R NM_000014.4 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin 894.0 blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863) blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093) calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120) 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) 77.0 Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888) TCTTTCCTTCCGTGTTCAGGA 0.393 0 76.0 74.0 75.0 12 9242536.0 1877.0 4108.0 5985.0 SO:0001583 missense BX647329, X68728, M11313 CCDS44827.1 12p13.31 2010-02-24 ENSG00000175899 ENSG00000175899 2.0 2.0 7.0 protein-coding gene gene with protein product 103950.0 Standard NM_000014 XM_006719056 Approved FWP007, S863-7, CPAMD5 uc001qvk.1 P01023 OTTHUMG00000150267 ENST00000318602.7:c.2680G>A 12.__UNKNOWN__:g.9242536C>T ENSP00000323929:p.Gly894Arg Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97 __UNKNOWN__ CCDS44827.1 . . . . . . . . . . C 19.40 3.819719 0.71028 . . ENSG00000175899 ENST00000318602;ENST00000540099 T 0.62788 -0.0 5.68 5.68 0.88126 . 0.077649 0.56097 D 0.000040 T 0.60547 0.2277 M 0.63428 1.95 0.51012 D 0.999909 P 0.46395 0.877 B 0.37304 0.246 T 0.66803 -0.5831 10 0.54805 T 0.06 . 18.364 0.90384 0.0:1.0:0.0:0.0 . 894 P01023 A2MG_HUMAN R 894;909 ENSP00000323929:G894R ENSP00000323929:G894R G - 1 0 A2M 9133803 1.000000 0.71417 0.953000 0.39169 0.488000 0.33401 5.372000 0.66156 2.674000 0.91012 0.655000 0.94253 GGA A2M-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317233.2 - ENST00000318602.7 Missense_Mutation SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 KSR1 8844 broad.mit.edu 37 17 25932726 25932726 + Silent SNP C C T TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr17:25932726C>T ENST00000398988.3 + 16.0 1981 c.1536C>T c.(1534-1536)gaC>gaT p.D512D KSR1_ENST00000268763.6_Silent_p.D512D|KSR1_ENST00000319524.6_Silent_p.D649D|KSR1_ENST00000509603.2_Silent_p.D627D NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 649.0 Ras protein signal transduction (GO:0007265) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28.0 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) ACAACCAGGACCACCTGAAGC 0.667 Esophageal Squamous(88;1120 1336 6324 10502 16832) 0 19.0 21.0 20.0 17 25932726.0 2035.0 4185.0 6220.0 SO:0001819 synonymous_variant U43586 CCDS58532.1 17q11.2 2012-05-23 2005-12-14 2005-12-14 ENSG00000141068 ENSG00000141068 8844.0 8844.0 6465.0 protein-coding gene gene with protein product 601132.0 """kinase suppressor of ras""" KSR 8521512 Standard NM_014238 XM_006722151 Approved RSU2 uc031qzj.1 Q8IVT5 OTTHUMG00000132051 ENST00000398988.3:c.1536C>T 17.__UNKNOWN__:g.25932726C>T F8WEA9|H7BYU0|Q13476 __UNKNOWN__ CCDS58532.1 . . . . . . . . . . C 9.963 1.223407 0.22457 . . ENSG00000141068 ENST00000398988 . . . 5.67 2.62 0.31277 . . . . . T 0.55641 0.1933 . . . 0.80722 D 1 . . . . . . T 0.46176 -0.9210 4 . . . . 7.4933 0.27475 0.0:0.5783:0.0:0.4217 . . . . S 363 . . P + 1 0 KSR1 22956853 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 1.167000 0.31847 0.342000 0.23796 0.655000 0.94253 CCA KSR1-001 NOVEL basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000255074.2 + ENST00000398988.3 Silent SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 TTN 7273 broad.mit.edu 37 2 179418227 179418227 + Splice_Site SNP A A T TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr2:179418227A>T ENST00000589042.1 - 334.0 89728 c.e334+1 TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) 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) 1448.0 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTAGGTACATACCAAGTATAT 0.343 0 88.0 86.0 87.0 2 179418227.0 1845.0 4088.0 5933.0 SO:0001630 splice_region_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273.0 7273.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403.0 protein-coding gene gene with protein product 188840.0 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_133378 NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.89503+1T>A 2.__UNKNOWN__:g.179418227A>T A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 __UNKNOWN__ CCDS59435.1 . . . . . . . . . . A 17.30 3.354156 0.61293 . . ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 . . . 5.6 5.6 0.85130 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 16.0863 0.81056 1.0:0.0:0.0:0.0 . . . . . -1 . . . - . . TTN 179126473 1.000000 0.71417 1.000000 0.80357 0.971000 0.66376 9.339000 0.96797 2.251000 0.74343 0.528000 0.53228 . TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 Intron - ENST00000589042.1 Splice_Site SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 CALCRL 10203 broad.mit.edu 37 2 188211041 188211041 + Missense_Mutation SNP G G A TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr2:188211041G>A ENST00000409998.1 - 16.0 2037 c.1256C>T c.(1255-1257)gCg>gTg p.A419V CALCRL_ENST00000392370.3_Missense_Mutation_p.A419V|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.A419V Q16602 CALRL_HUMAN calcitonin receptor-like 419.0 adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937) endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886) adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565) endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32.0 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TGTGTAAGACGCACTACGAAG 0.373 0 128.0 120.0 123.0 2 188211041.0 2203.0 4299.0 6502.0 SO:0001583 missense U17473 CCDS2293.1 2q21.1-q21.3 2012-08-10 ENSG00000064989 ENSG00000064989 10203.0 10203.0 """GPCR / Class B : Calcitonin receptors""" 16709.0 protein-coding gene gene with protein product 114190.0 7818539, 8626685 Standard NM_005795 NM_005795 Approved CGRPR, CRLR uc010frt.4 Q16602 OTTHUMG00000132636 ENST00000409998.1:c.1256C>T 2.__UNKNOWN__:g.188211041G>A ENSP00000386972:p.Ala419Val A8K6G5|A8KAD3|Q53S02|Q53TS5 __UNKNOWN__ CCDS2293.1 . . . . . . . . . . G 17.06 3.291314 0.59976 . . ENSG00000064989 ENST00000392370;ENST00000409998;ENST00000410068 T;T;T 0.64260 -0.09;-0.09;-0.09 5.7 5.7 0.88788 . 0.097167 0.43416 D 0.000572 T 0.51075 0.1653 L 0.31926 0.97 0.54753 D 0.99998 B 0.16166 0.016 B 0.11329 0.006 T 0.42361 -0.9456 10 0.28530 T 0.3 . 14.1147 0.65146 0.074:0.0:0.926:0.0 . 419 Q16602 CALRL_HUMAN V 419 ENSP00000376177:A419V;ENSP00000386972:A419V;ENSP00000387190:A419V ENSP00000376177:A419V A - 2 0 CALCRL 187919286 1.000000 0.71417 0.994000 0.49952 0.894000 0.52154 7.623000 0.83113 2.673000 0.90976 0.655000 0.94253 GCG CALCRL-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000334648.1 - ENST00000409998.1 Missense_Mutation SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 ZNF324 25799 broad.mit.edu 37 19 58983066 58983066 + Missense_Mutation SNP G G A TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr19:58983066G>A ENST00000536459.2 + 4.0 1916 c.1207G>A c.(1207-1209)Ggt>Agt p.G403S ZNF324_ENST00000196482.3_Missense_Mutation_p.G403S|ZNF324_ENST00000535298.1_Missense_Mutation_p.G180S O75467 Z324A_HUMAN zinc finger protein 324 403.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16.0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CGCGCTCTGCGGTGCTGCCTT 0.662 0 40.0 38.0 39.0 19 58983066.0 2203.0 4300.0 6503.0 SO:0001583 missense AF060503 CCDS12981.1 19q13.43 2013-01-08 ENSG00000083812 25799.0 25799.0 """Zinc fingers, C2H2-type"", ""-""" 14096.0 protein-coding gene gene with protein product Standard NM_014347 NM_014347 Approved ZF5128, ZNF324A uc002qsw.2 O75467 ENST00000536459.2:c.1207G>A 19.__UNKNOWN__:g.58983066G>A ENSP00000444812:p.Gly403Ser B3KRX1 __UNKNOWN__ CCDS12981.1 . . . . . . . . . . G 17.70 3.453252 0.63290 . . ENSG00000083812 ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298 T;T;T 0.57752 0.38;0.38;0.38 3.66 3.66 0.41972 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.42682 D 0.000664 T 0.59945 0.2231 L 0.28608 0.87 0.49299 D 0.999773 D 0.89917 1.0 D 0.97110 1.0 T 0.64309 -0.6438 10 0.72032 D 0.01 . 13.654 0.62327 0.0:0.0:1.0:0.0 . 403 O75467 Z324A_HUMAN S 403;403;393;180 ENSP00000196482:G403S;ENSP00000444812:G403S;ENSP00000439588:G180S ENSP00000196482:G403S G + 1 0 ZNF324 63674878 1.000000 0.71417 0.142000 0.22268 0.145000 0.21501 5.891000 0.69782 2.330000 0.79161 0.400000 0.26472 GGT ZNF324-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000467044.1 + ENST00000536459.2 Missense_Mutation SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 UBN1 29855 broad.mit.edu 37 16 4920308 4920308 + Missense_Mutation SNP T T G TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr16:4920308T>G ENST00000396658.4 + 8.0 1980 c.1277T>G c.(1276-1278)cTc>cGc p.L426R UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000590769.1_Missense_Mutation_p.L426R|UBN1_ENST00000262376.6_Missense_Mutation_p.L426R|UBN1_ENST00000545171.1_Missense_Mutation_p.L426R NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 426.0 chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38.0 GATGCCCTGCTCAAGCGTGCT 0.572 0 87.0 71.0 76.0 16 4920308.0 2197.0 4300.0 6497.0 SO:0001583 missense AF108460 CCDS10525.1, CCDS73822.1 16p13.3 2010-11-09 ENSG00000118900 ENSG00000118900 29855.0 29855.0 12506.0 protein-coding gene gene with protein product 609771.0 10725330 Standard NM_016936 XM_005255277 Approved uc002cyb.3 Q9NPG3 OTTHUMG00000129531 ENST00000396658.4:c.1277T>G 16.__UNKNOWN__:g.4920308T>G ENSP00000379894:p.Leu426Arg B7Z6D3|D3DUE8|Q13079|Q9P1P7 __UNKNOWN__ CCDS10525.1 . . . . . . . . . . T 16.82 3.227717 0.58668 . . ENSG00000118900 ENST00000262376;ENST00000545171;ENST00000396658 T;T;T 0.46451 0.87;0.87;0.87 5.33 4.25 0.50352 . 0.498899 0.20388 N 0.093303 T 0.46112 0.1376 L 0.39147 1.195 0.32938 D 0.518063 P;P 0.42203 0.731;0.773 P;P 0.51742 0.549;0.678 T 0.60429 -0.7265 10 0.87932 D 0 -0.715 10.558 0.45129 0.0:0.0755:0.0:0.9245 . 426;426 Q9NPG3-2;Q9NPG3 .;UBN1_HUMAN R 426 ENSP00000262376:L426R;ENSP00000442379:L426R;ENSP00000379894:L426R ENSP00000262376:L426R L + 2 0 UBN1 4860309 1.000000 0.71417 0.919000 0.36401 0.914000 0.54420 5.118000 0.64673 2.029000 0.59856 0.533000 0.62120 CTC UBN1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251719.1 + ENST00000396658.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 PSD4 23550 broad.mit.edu 37 2 113940295 113940295 + Missense_Mutation SNP C C G TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr2:113940295C>G ENST00000441564.3 + 2.0 431 c.262C>G c.(262-264)Cag>Gag p.Q88E PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000245796.6_Missense_Mutation_p.Q88E Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 88.0 neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012) cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886) ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543) cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29.0 GGAGCCTTGCCAGGAGCAAAC 0.637 0 48.0 51.0 50.0 2 113940295.0 2203.0 4300.0 6503.0 SO:0001583 missense U63127 CCDS33276.1 2q13 2013-01-10 ENSG00000125637 ENSG00000125637 23550.0 23550.0 """Pleckstrin homology (PH) domain containing""" 19096.0 protein-coding gene gene with protein product 614442.0 12082148 Standard NM_012455 XM_005263634 Approved TIC, EFA6B uc002tjc.3 Q8NDX1 OTTHUMG00000153339 ENST00000441564.3:c.262C>G 2.__UNKNOWN__:g.113940295C>G ENSP00000413997:p.Gln88Glu A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4 __UNKNOWN__ . . . . . . . . . . C 0.008 -1.886429 0.00527 . . ENSG00000125637 ENST00000245796;ENST00000441564 T;T 0.13420 2.81;2.59 3.15 -6.31 0.02001 . 3.902190 0.00649 N 0.000541 T 0.07188 0.0182 N 0.14661 0.345 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.39461 -0.9613 10 0.06099 T 0.92 . 10.8558 0.46798 0.1949:0.6668:0.1383:0.0 . 88;88 Q8NDX1-2;Q8NDX1 .;PSD4_HUMAN E 88 ENSP00000245796:Q88E;ENSP00000413997:Q88E ENSP00000245796:Q88E Q + 1 0 PSD4 113656766 0.691000 0.27709 0.000000 0.03702 0.014000 0.08584 0.709000 0.25734 -2.334000 0.00630 -1.086000 0.02197 CAG PSD4-003 NOVEL basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000330791.3 + ENST00000441564.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 PTGS1 5742 broad.mit.edu 37 9 125140786 125140786 + Missense_Mutation SNP C C T TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr9:125140786C>T ENST00000362012.2 + 4.0 291 c.286C>T c.(286-288)Cgc>Tgc p.R96C PTGS1_ENST00000223423.4_Missense_Mutation_p.R96C|PTGS1_ENST00000540753.1_Missense_Mutation_p.R71C|PTGS1_ENST00000373698.5_5'UTR NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2 NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 96.0 arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750) dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666) large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8.0 Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198) CACTCACGGGCGCTGGTTCTG 0.632 C 3.0 0.0014 2184.0 1.0 , , 0.0003 0.004 0.0014 1.0 EXOME 0.0009 SNP 0 78.0 79.0 79.0 9 125140786.0 2203.0 4300.0 6503.0 SO:0001583 missense M59979 CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1 9q32-q33.3 2008-02-05 ENSG00000095303 ENSG00000095303 5742.0 5742.0 1.14.99.1 9604.0 protein-coding gene gene with protein product 176805.0 2512924, 1907252 Standard NM_000962 Approved COX1, PGHS-1, PTGHS uc004bmg.2 P23219 OTTHUMG00000020605 ENST00000362012.2:c.286C>T 9.__UNKNOWN__:g.125140786C>T ENSP00000354612:p.Arg96Cys A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8 __UNKNOWN__ CCDS6842.1 3 0.0013736263736263737 0 0.0 0 0.0 0 0.0 3 0.00395778364116095 C 16.98 3.270406 0.59540 . . ENSG00000095303 ENST00000540753;ENST00000362012;ENST00000223423;ENST00000426608 T;T;T;T 0.67698 -0.28;-0.28;-0.28;-0.28 5.68 4.77 0.60923 . 0.445774 0.27388 N 0.019583 T 0.67515 0.2901 L 0.47190 1.495 0.80722 D 1 D;D;D 0.65815 0.975;0.979;0.995 P;B;P 0.54924 0.582;0.33;0.764 T 0.69435 -0.5146 10 0.72032 D 0.01 -10.3523 6.9641 0.24613 0.2721:0.6421:0.0:0.0858 . 71;96;96 B4DHQ2;P23219;P23219-2 .;PGH1_HUMAN;. C 71;96;96;54 ENSP00000437709:R71C;ENSP00000354612:R96C;ENSP00000223423:R96C;ENSP00000411606:R54C ENSP00000223423:R96C R + 1 0 PTGS1 124180607 0.353000 0.24904 0.918000 0.36340 0.846000 0.48090 1.570000 0.36439 1.373000 0.46208 0.563000 0.77884 CGC PTGS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053933.1 + ENST00000362012.2 Missense_Mutation SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 DST 667 broad.mit.edu 37 6 56504748 56504748 + Silent SNP G G A TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr6:56504748G>A ENST00000361203.3 - 15.0 1972 c.1965C>T c.(1963-1965)ctC>ctT p.L655L DST_ENST00000370769.4_Silent_p.L655L|DST_ENST00000370754.5_Silent_p.L833L|DST_ENST00000312431.6_Silent_p.L655L|DST_ENST00000446842.2_Silent_p.L329L|DST_ENST00000244364.6_Silent_p.L329L|DST_ENST00000421834.2_Silent_p.L655L|DST_ENST00000370788.2_Silent_p.L655L|DST_ENST00000518935.1_Silent_p.L329L|DST_ENST00000370765.6_Silent_p.L329L Q03001 DYST_HUMAN dystonin 655.0 axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090) actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018) calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803) 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) 105.0 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TAGCTTCTTTGAGACTAGATT 0.323 0 52.0 56.0 55.0 6 56504748.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant M22942, M69225 CCDS4959.1, CCDS47443.1, CCDS75474.1 6p12.1 2013-01-10 2004-06-25 2004-07-01 ENSG00000151914 ENSG00000151914 667.0 667.0 """EF-hand domain containing""" 1090.0 protein-coding gene gene with protein product 113810.0 """bullous pemphigoid antigen 1, 230/240kDa""" BPAG1 2461961, 2276744 Standard NM_001723 NM_001144770 Approved BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2 uc021zba.2 Q03001 OTTHUMG00000014913 ENST00000361203.3:c.1965C>T 6.__UNKNOWN__:g.56504748G>A B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10 __UNKNOWN__ DST-004 NOVEL not_organism_supported|basic|appris_candidate protein_coding protein_coding OTTHUMT00000041021.3 - ENST00000361203.3 Silent SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 CSDE1 7812 broad.mit.edu 37 1 115272878 115272878 + Splice_Site SNP C C T TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr1:115272878C>T ENST00000530886.1 - 10.0 1554 c.e10+1 CSDE1_ENST00000369530.1_Splice_Site|CSDE1_ENST00000358528.4_Splice_Site|CSDE1_ENST00000261443.5_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site|CSDE1_ENST00000438362.2_Splice_Site|CSDE1_ENST00000339438.6_Splice_Site O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355) CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51.0 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GCAAAACCTACCTTCTCTTTG 0.368 0 138.0 142.0 141.0 1 115272878.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1 1p13.2 2011-11-02 ENSG00000009307 ENSG00000009307 7812.0 7812.0 29905.0 protein-coding gene gene with protein product """upstream of NRAS""" 191510.0 2204029, 10048485 Standard NM_007158 NM_007158 Approved D1S155E, UNR uc001efi.3 O75534 OTTHUMG00000012060 ENST00000530886.1:c.966+1G>A 1.__UNKNOWN__:g.115272878C>T A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4 __UNKNOWN__ . . . . . . . . . . C 24.7 4.557140 0.86231 . . ENSG00000009307 ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699 . . . 5.67 5.67 0.87782 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 19.7714 0.96367 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . CSDE1 115074401 1.000000 0.71417 1.000000 0.80357 0.949000 0.60115 7.448000 0.80631 2.666000 0.90696 0.655000 0.94253 . CSDE1-007 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000392607.1 Intron - ENST00000530886.1 Splice_Site SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 MUC17 140453 broad.mit.edu 37 7 100682737 100682737 + Missense_Mutation SNP C C A rs71286275 TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr7:100682737C>A ENST00000306151.4 + 3.0 8104 c.8040C>A c.(8038-8040)agC>agA p.S2680R NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2680.0 59 X approximate tandem repeats.|Ser-rich. cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) 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) 343.0 Lung NSC(181;0.136)|all_lung(186;0.182) CTGAAGGTAGCAGCATGCCAA 0.488 0 227.0 231.0 230.0 7 100682737.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453.0 140453.0 """Mucins""" 16800.0 protein-coding gene gene with protein product 608424.0 11855812 Standard NM_001040105 NM_001040105 Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.8040C>A 7.__UNKNOWN__:g.100682737C>A ENSP00000302716:p.Ser2680Arg O14761|Q685J2|Q8TDH7 __UNKNOWN__ CCDS34711.1 . . . . . . . . . . C 1.968 -0.437304 0.04636 . . ENSG00000169876 ENST00000306151 T 0.03635 3.86 0.827 0.827 0.18835 . . . . . T 0.01523 0.0049 N 0.08118 0 0.09310 N 1 P 0.47604 0.898 B 0.31686 0.134 T 0.51140 -0.8743 9 0.24483 T 0.36 . 7.6253 0.28208 0.0:1.0:0.0:0.0 . 2680 Q685J3 MUC17_HUMAN R 2680 ENSP00000302716:S2680R ENSP00000302716:S2680R S + 3 2 MUC17 100469457 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -0.688000 0.05150 0.750000 0.32877 0.134000 0.15878 AGC MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347161.1 + ENST00000306151.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 IGHV1-45 0 broad.mit.edu 37 14 106963220 106963220 + RNA SNP A A C TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr14:106963220A>C ENST00000390621.2 - 0.0 119 immunoglobulin heavy variable 1-45 CACCAGCTGCATCTGGGAGTA 0.567 0 71.0 70.0 71.0 14 106963220.0 1939.0 4146.0 6085.0 X92209 14q32.33 2012-02-08 ENSG00000211961 ENSG00000211961 28466.0 28466.0 """Immunoglobulins / IGH locus""" 5553.0 other immunoglobulin gene Standard NG_001019 NG_001019 Approved OTTHUMG00000152075 ENST00000390621.2: 14.__UNKNOWN__:g.106963220A>C __UNKNOWN__ IGHV1-45-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene IG_V_gene OTTHUMT00000325169.1 - ENST00000390621.2 RNA SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 APC 324 broad.mit.edu 37 5 112176079 112176079 + Missense_Mutation SNP G G C TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr5:112176079G>C ENST00000457016.1 + 16.0 5168 c.4788G>C c.(4786-4788)caG>caC p.Q1596H CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.Q1596H|APC_ENST00000257430.4_Missense_Mutation_p.Q1596H P25054 APC_HUMAN adenomatous polyposis coli 1596.0 Ser-rich. anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830) axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923) beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887) 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) 3261.0 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) AGCCAGCCCAGACTGCTTCAA 0.403 12.0 """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) NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115) yes Rec yes Adenomatous polyposis coli; Turcot syndrome 5 5q21 324.0 adenomatous polyposis of the colon gene """E, M, O""" 2 Unknown(1)|Deletion - Frameshift(1) soft_tissue(1)|skin(1) 119.0 125.0 123.0 5 112176079.0 2202.0 4300.0 6502.0 SO:0001583 missense Familial Cancer Database Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s, M74088 CCDS4107.1 5q21-q22 2014-09-17 2008-01-08 ENSG00000134982 ENSG00000134982 324.0 324.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing""" 583.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 46""" 611731.0 """adenomatosis polyposis coli""" 1651563 Standard NM_000038 NM_001127511 Approved DP2, DP3, DP2.5, PPP1R46 uc003kpy.4 P25054 OTTHUMG00000128806 ENST00000457016.1:c.4788G>C 5.__UNKNOWN__:g.112176079G>C ENSP00000413133:p.Gln1596His D3DT03|Q15162|Q15163|Q93042 __UNKNOWN__ CCDS4107.1 . . . . . . . . . . G 14.83 2.652420 0.47362 . . ENSG00000134982 ENST00000457016;ENST00000257430;ENST00000508376 D;D;D 0.90069 -2.61;-2.61;-2.61 6.16 5.13 0.70059 . 0.000000 0.85682 D 0.000000 D 0.85936 0.5813 N 0.19112 0.55 0.34135 D 0.665766 D;D 0.67145 0.996;0.996 P;P 0.59703 0.862;0.862 D 0.85817 0.1383 9 . . . -8.0613 7.1739 0.25734 0.2251:0.0:0.7749:0.0 . 1598;1596 Q4LE70;P25054 .;APC_HUMAN H 1596 ENSP00000413133:Q1596H;ENSP00000257430:Q1596H;ENSP00000427089:Q1596H . Q + 3 2 APC 112203978 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 2.790000 0.47821 2.937000 0.99478 0.650000 0.86243 CAG APC-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250738.2 + ENST00000457016.1 Missense_Mutation SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 ITLN2 142683 broad.mit.edu 37 1 160920865 160920865 + Missense_Mutation SNP A A T rs141731306 TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr1:160920865A>T ENST00000368029.3 - 4.0 466 c.409T>A c.(409-411)Tct>Act p.S137T NM_080878.2 NP_543154.1 Q8WWU7 ITLN2_HUMAN intelectin 2 137.0 Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}. extracellular region (GO:0005576) carbohydrate binding (GO:0030246) endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 19.0 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GCCTCTGCAGATCCAAAGGTG 0.597 0 205.0 172.0 183.0 1 160920865.0 2203.0 4300.0 6503.0 SO:0001583 missense AY065973 CCDS1212.1 1q22-q23.5 2013-02-06 ENSG00000158764 ENSG00000158764 142683.0 142683.0 """Fibrinogen C domain containing""" 20599.0 protein-coding gene gene with protein product 609874.0 11181563 Standard NM_080878 NM_080878 Approved HL-2 uc001fxd.3 Q8WWU7 OTTHUMG00000028605 ENST00000368029.3:c.409T>A 1.__UNKNOWN__:g.160920865A>T ENSP00000357008:p.Ser137Thr Q17RR2|Q5VYI0 __UNKNOWN__ CCDS1212.1 . . . . . . . . . . A 11.49 1.653491 0.29425 . . ENSG00000158764 ENST00000368029 T 0.16324 2.35 4.09 1.39 0.22231 Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2); 0.366899 0.20435 U 0.092385 T 0.02848 0.0085 L 0.31804 0.96 0.20489 N 0.999893 B;B 0.23128 0.037;0.08 B;B 0.24006 0.034;0.05 T 0.44892 -0.9298 10 0.22706 T 0.39 -7.3603 3.3526 0.07158 0.4354:0.0:0.1068:0.4579 . 136;137 A6NI51;Q8WWU7 .;ITLN2_HUMAN T 137 ENSP00000357008:S137T ENSP00000357008:S137T S - 1 0 ITLN2 159187489 0.942000 0.31987 0.999000 0.59377 0.973000 0.67179 0.433000 0.21477 0.096000 0.17463 0.459000 0.35465 TCT ITLN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000071465.1 - ENST00000368029.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 CRAMP1L 57585 broad.mit.edu 37 16 1723958 1723958 + Missense_Mutation SNP A A G TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr16:1723958A>G ENST00000397412.3 + 21.0 3821 c.3722A>G c.(3721-3723)cAa>cGa p.Q1241R CRAMP1L_ENST00000293925.5_Missense_Mutation_p.Q1241R|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.Q1238R|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.Q616R Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 1241.0 Ser-rich. nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22.0 GACCTGGCCCAAGAGCTGTCC 0.562 0 90.0 93.0 92.0 16 1723958.0 2072.0 4225.0 6297.0 SO:0001583 missense AB037847 CCDS10440.2 16p13.3 2008-07-30 2001-11-28 ENSG00000007545 ENSG00000007545 57585.0 57585.0 14122.0 protein-coding gene gene with protein product """Crm (Cramped Drosophila)-like""" Standard NM_020825 Approved KIAA1426 uc010uvh.2 Q96RY5 OTTHUMG00000074087 ENST00000397412.3:c.3722A>G 16.__UNKNOWN__:g.1723958A>G ENSP00000380559:p.Gln1241Arg A8MZL1|B1AJY1|Q8NDN1|Q9P2C1 __UNKNOWN__ CCDS10440.2 . . . . . . . . . . A 34 5.294039 0.95546 . . ENSG00000007545 ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317 . . . 6.07 6.07 0.98685 . 0.000000 0.85682 D 0.000000 T 0.67618 0.2912 L 0.36672 1.1 0.51012 D 0.999906 D 0.69078 0.997 D 0.77557 0.99 T 0.64782 -0.6326 9 0.33141 T 0.24 -13.8003 16.6288 0.85011 1.0:0.0:0.0:0.0 . 1241 Q96RY5 CRML_HUMAN R 1241;1241;1238;616 . ENSP00000262317:Q616R Q + 2 0 CRAMP1L 1663959 1.000000 0.71417 0.998000 0.56505 0.966000 0.64601 8.645000 0.91049 2.326000 0.78906 0.533000 0.62120 CAA CRAMP1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000157297.4 + ENST00000397412.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 RP11-162P23.2 0 broad.mit.edu 37 12 112223106 112223106 + Nonsense_Mutation SNP C C A TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr12:112223106C>A ENST00000546840.2 + 5.0 386 c.386C>A c.(385-387)tCa>tAa p.S129* ALDH2_ENST00000416293.3_Silent_p.V85V|ALDH2_ENST00000261733.2_Silent_p.V132V AGCCCTATGTCATCTCCTACC 0.517 0 175.0 152.0 160.0 12 112223106.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained ENST00000546840.2:c.386C>A 12.__UNKNOWN__:g.112223106C>A ENSP00000450353:p.Ser129* __UNKNOWN__ RP11-162P23.2-001 PUTATIVE mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript protein_coding protein_coding OTTHUMT00000405006.2 + ENST00000546840.2 Nonsense_Mutation SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 ALS2 57679 broad.mit.edu 37 2 202606482 202606482 + Silent SNP A A G TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr2:202606482A>G ENST00000264276.6 - 11.0 2638 c.2266T>C c.(2266-2268)Ttg>Ctg p.L756L ALS2_ENST00000457679.2_Silent_p.L68L NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 756.0 DH. {ECO:0000255|PROSITE- ProRule:PRU00062}. behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050) centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982) protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087) NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72.0 AAGCTGCTCAATGAGGCTCCA 0.473 0 66.0 65.0 66.0 2 202606482.0 1956.0 4180.0 6136.0 SO:0001819 synonymous_variant AB053305 CCDS42800.1, CCDS46492.1 2q33-q35 2014-09-17 2004-06-23 ENSG00000003393 ENSG00000003393 57679.0 57679.0 """Rho guanine nucleotide exchange factors""" 443.0 protein-coding gene gene with protein product """alsin""" 606352.0 """amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6""" ALS2CR6 11586298 Standard NM_020919 NM_020919 Approved uc002uyo.3 Q96Q42 OTTHUMG00000154507 ENST00000264276.6:c.2266T>C 2.__UNKNOWN__:g.202606482A>G Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9 __UNKNOWN__ CCDS42800.1 ALS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335562.3 - ENST00000264276.6 Silent SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 THSD7A 221981 broad.mit.edu 37 7 11514012 11514012 + Missense_Mutation SNP G G C TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr7:11514012G>C ENST00000423059.4 - 8.0 2452 c.2201C>G c.(2200-2202)aCa>aGa p.T734R AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 734.0 TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}. angiogenesis (GO:0001525)|cell differentiation (GO:0030154) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) 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) 113.0 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GACTTTTCTTGTCTGCATGCC 0.512 HNSCC(18;0.044) 0 106.0 105.0 105.0 7 11514012.0 2023.0 4194.0 6217.0 SO:0001583 missense CCDS47543.1 7p21.3 2006-10-16 ENSG00000005108 ENSG00000005108 221981.0 221981.0 22207.0 protein-coding gene gene with protein product 612249.0 Standard XM_928187.2 NM_015204 Approved KIAA0960 uc021zzn.1 Q9UPZ6 OTTHUMG00000152346 ENST00000423059.4:c.2201C>G 7.__UNKNOWN__:g.11514012G>C ENSP00000406482:p.Thr734Arg __UNKNOWN__ CCDS47543.1 . . . . . . . . . . G 22.8 4.342489 0.81911 . . ENSG00000005108 ENST00000262042;ENST00000423059 T 0.61510 0.1 5.12 5.12 0.69794 . 0.000000 0.85682 D 0.000000 T 0.69305 0.3096 L 0.45228 1.405 0.80722 D 1 D 0.71674 0.998 D 0.77004 0.989 T 0.64223 -0.6458 10 0.26408 T 0.33 . 18.9303 0.92563 0.0:0.0:1.0:0.0 . 734 Q9UPZ6 THS7A_HUMAN R 734 ENSP00000406482:T734R ENSP00000262042:T734R T - 2 0 THSD7A 11480537 1.000000 0.71417 1.000000 0.80357 0.760000 0.43138 9.813000 0.99286 2.550000 0.86006 0.563000 0.77884 ACA THSD7A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000325944.4 - ENST00000423059.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 SLC4A2 6522 broad.mit.edu 37 7 150768535 150768535 + Silent SNP G G A TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr7:150768535G>A ENST00000461735.1 + 13.0 2539 c.1992G>A c.(1990-1992)acG>acA p.T664T SLC4A2_ENST00000310317.5_Silent_p.T596T|SLC4A2_ENST00000392826.2_Silent_p.T669T|SLC4A2_ENST00000413384.2_Silent_p.T678T|SLC4A2_ENST00000485713.1_Silent_p.T678T NM_001199694.1 NP_001186623.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 678.0 anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33.0 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCGGCGGACGGGGCGGCCCT 0.677 0 SO:0001819 synonymous_variant CCDS5917.1, CCDS56520.1, CCDS56521.1 7q36.1 2013-07-19 2013-07-19 ENSG00000164889 ENSG00000164889 6522.0 6522.0 """Solute carriers""" 11028.0 protein-coding gene gene with protein product """anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2""" 109280.0 """erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)""" EPB3L1, AE2 8434259 Standard NM_003040 NM_003040 Approved HKB3, BND3L, NBND3 uc003wit.4 P04920 OTTHUMG00000158443 ENST00000461735.1:c.1992G>A 7.__UNKNOWN__:g.150768535G>A B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3 __UNKNOWN__ CCDS56521.1 SLC4A2-005 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000351042.2 + ENST00000461735.1 Silent SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 ASH1L 55870 broad.mit.edu 37 1 155340331 155340340 + Frame_Shift_Del DEL TTGATGAATC TTGATGAATC - TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr1:155340331_155340340delTTGATGAATC ENST00000392403.3 - 12.0 7119_7128 c.6641_6650delGATTCATCAA c.(6640-6651)cgattcatcaacfs p.RFIN2214fs ASH1L_ENST00000368346.3_Frame_Shift_Del_p.RFIN2219fs NM_018489.2 NP_060959.2 Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2219.0 Catalytic domain.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}. cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124.0 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ACAGCTATGGTTGATGAATCGGGCCTCATT 0.448 0 SO:0001589 frameshift_variant AB037841 CCDS1113.2 1q22 2013-01-28 ENSG00000116539 ENSG00000116539 55870.0 55870.0 """Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type""" 19088.0 protein-coding gene gene with protein product 607999.0 10860993, 16545939 Standard NM_018489 NM_018489 Approved huASH1, ASH1, ASH1L1, KMT2H uc001fkt.3 Q9NR48 OTTHUMG00000014011 ENST00000392403.3:c.6641_6650delGATTCATCAA 1.__UNKNOWN__:g.155340331_155340340delTTGATGAATC ENSP00000376204:p.Arg2214fs Q59GP1|Q5T714|Q5T715|Q9P2C7 __UNKNOWN__ CCDS1113.2 ASH1L-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000039401.2 - ENST00000392403.3 Frame_Shift_Del DEL PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 CCR4 1233 broad.mit.edu 37 3 32995645 32995659 + In_Frame_Del DEL TCTTTGCCGTGGTGG TCTTTGCCGTGGTGG - rs147951720 byFrequency TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr3:32995645_32995659delTCTTTGCCGTGGTGG ENST00000330953.5 + 2.0 899_913 c.731_745delTCTTTGCCGTGGTGG c.(730-747)atctttgccgtggtggtc>atc p.FAVVV245del NM_005508.4 NP_005499.1 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 245.0 chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507) external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950) NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16.0 GTGAAGATGATCTTTGCCGTGGTGGTCCTCTTCCT 0.47 0 SO:0001651 inframe_deletion X85740 CCDS2656.1 3p24-p21.3 2012-08-08 ENSG00000183813 ENSG00000183813 1233.0 1233.0 """GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules""" 1605.0 protein-coding gene gene with protein product 604836.0 7642634, 8884276 Standard NM_005508 Approved CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194 uc003cfg.1 P51679 OTTHUMG00000130752 ENST00000330953.5:c.731_745delTCTTTGCCGTGGTGG 3.__UNKNOWN__:g.32995645_32995659delTCTTTGCCGTGGTGG ENSP00000332659:p.Phe245_Val249del Q9ULY6|Q9ULY7 __UNKNOWN__ CCDS2656.1 CCR4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253252.2 + ENST00000330953.5 In_Frame_Del DEL PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 RPTN 126638 broad.mit.edu 37 1 152127903 152127903 + Frame_Shift_Del DEL G G - TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr1:152127903delG ENST00000316073.3 - 3.0 1736 c.1672delC c.(1672-1674)cacfs p.H558fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 558.0 Gln-rich. cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509) p.H558D(1) 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) 59.0 TGACCGTAGTGGGAACTCTGG 0.507 1 Substitution - Missense(1) lung(1) 675.0 601.0 624.0 1 152127903.0 1568.0 3582.0 5150.0 SO:0001589 frameshift_variant AK096436 CCDS41397.1 1q21.3 2013-01-10 ENSG00000215853 ENSG00000215853 126638.0 126638.0 """EF-hand domain containing""" 26809.0 protein-coding gene gene with protein product 613259.0 15854042 Standard XM_371312 NM_001122965 Approved FLJ39117 uc001ezs.1 Q6XPR3 OTTHUMG00000154095 ENST00000316073.3:c.1672delC 1.__UNKNOWN__:g.152127903delG ENSP00000317895:p.His558fs B7ZBZ3 __UNKNOWN__ CCDS41397.1 RPTN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000333867.1 - ENST00000316073.3 Frame_Shift_Del DEL PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 FLOT1 10211 bcgsc.ca 37 6 30698714 30698714 + Missense_Mutation SNP C C T TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr6:30698714C>T ENST00000376389.3 - 9.0 1107 c.887G>A c.(886-888)cGc>cAc p.R296H FLOT1_ENST00000456573.2_Missense_Mutation_p.R248H NM_005803.2 NP_005794.1 P41440 S19A1_HUMAN flotillin 1 0.0 folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1) 13.0 Methotrexate(DB00563)|Pralatrexate(DB06813) CTCGGCTAGGCGCTCCAGCTT 0.647 0 51.0 54.0 53.0 6 30698714.0 2195.0 4294.0 6489.0 SO:0001583 missense AF089750 CCDS4688.1 6p21.3 2010-02-17 ENSG00000137312 ENSG00000137312 10211.0 10211.0 3757.0 protein-coding gene gene with protein product 606998 Standard XM_005248780 Approved uc003nrm.3 O75955 OTTHUMG00000031151 ENST00000376389.3:c.887G>A 6.__UNKNOWN__:g.30698714C>T ENSP00000365569:p.Arg296His B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8 __UNKNOWN__ CCDS4688.1 . . . . . . . . . . C 18.38 3.611690 0.66558 . . ENSG00000137312 ENST00000376389;ENST00000456573;ENST00000413165 T;T 0.37235 1.35;1.21 4.67 4.67 0.58626 . 0.172814 0.46758 D 0.000264 T 0.14527 0.0351 L 0.32530 0.975 0.37779 D 0.926951 P;P 0.47484 0.896;0.834 B;B 0.39531 0.302;0.302 T 0.03651 -1.1016 10 0.51188 T 0.08 -2.7342 8.9662 0.35879 0.0:0.901:0.0:0.099 . 248;296 B4DVY7;O75955 .;FLOT1_HUMAN H 296;248;233 ENSP00000365569:R296H;ENSP00000394375:R248H ENSP00000365569:R296H R - 2 0 FLOT1 30806693 1.000000 0.71417 1.000000 0.80357 0.921000 0.55340 2.935000 0.48963 2.603000 0.88011 0.650000 0.86243 CGC FLOT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076276.2 - ENST00000376389.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 Unknown 645961 bcgsc.ca 37 9 90746562 90746562 + RNA SNP G G T TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr9:90746562G>T U6 (133312 upstream) : U3 (242621 downstream) AGAGACTCTTGGATCCTTCCA 0.547 0 39.0 38.0 38.0 9 90746562.0 692.0 1591.0 2283.0 SO:0001628 intergenic_variant 9.__UNKNOWN__:g.90746562G>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 CDC42BPG 55561 ucsc.edu 37 11 64597091 64597091 + Silent SNP G G A TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr11:64597091G>A ENST00000342711.5 - 30.0 3818 c.3819C>T c.(3817-3819)cgC>cgT p.R1273R NM_017525.2 NP_059995.2 CDC42 binding protein kinase gamma (DMPK-like) central_nervous_system(1)|lung(3) 4.0 CCAGGCCCCCGCGGGATGGTG 0.682 0 G 1,4389 0,1,2194 17.0 21.0 20.0 3819 -8.7 0.4 11 20.0 0,8586 0,0,4293 no coding-synonymous CDC42BPG NM_017525.2 0,1,6487 AA,AG,GG 0.0,0.0228,0.0077 1273/1552 64597091.0 1,12975 2195.0 4293.0 6488.0 SO:0001819 synonymous_variant AY648038 CCDS31601.1 11q13 2013-01-10 ENSG00000171219 ENSG00000171219 55561.0 55561.0 """Pleckstrin homology (PH) domain containing""" 29829.0 protein-coding gene gene with protein product 613991 9341881, 15194684 Standard XM_290516 NM_017525 Approved HSMDPKIN, MRCKgamma, DMPK2, kappa-200 uc001obs.4 Q6DT37 OTTHUMG00000045365 ENST00000342711.5:c.3819C>T 11.__UNKNOWN__:g.64597091G>A __UNKNOWN__ CCDS31601.1 CDC42BPG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000105352.4 - ENST00000342711.5 Silent SNP PCPG-TCGA-S7-A7WT-Normal-SM-5EMN5 USH2A 7399 broad.mit.edu 37 1 215823955 215823955 + Silent SNP G G A rs147037435 byFrequency TCGA-S7-A7WU-01A-11D-A35I-08 TCGA-S7-A7WU-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb 7e54767e-763c-4d5f-a1d0-3eed338704c3 g.chr1:215823955G>A ENST00000307340.3 - 65.0 14708 c.14322C>T c.(14320-14322)agC>agT p.S4774S USH2A_ENST00000366943.2_Silent_p.S4774S NM_206933.2 NP_996816 O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4774.0 Fibronectin type-III 33. {ECO:0000255|PROSITE-ProRule:PRU00316}. hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601) apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171) collagen binding (GO:0005518)|myosin binding (GO:0017022) 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) 527.0 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCCCATGGGCGCTGCTGGAGA 0.483 HNSCC(13;0.011) 0 G 9,4397 15.5+/-35.6 0,9,2194 74.0 74.0 74.0 14322 0.2 0.0 1 dbSNP_134 74.0 0,8600 0,0,4300 no coding-synonymous USH2A NM_206933.2 0,9,6494 AA,AG,GG 0.0,0.2043,0.0692 4774/5203 215823955.0 9,12997 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF055580 CCDS1516.1, CCDS31025.1 1q41 2013-02-11 ENSG00000042781 ENSG00000042781 7399.0 7399.0 """Fibronectin type III domain containing""" 12601.0 protein-coding gene gene with protein product """usherin""" 608400.0 USH2 9624053, 10729113 Standard NM_007123 NM_007123 Approved RP39 uc001hku.1 O75445 OTTHUMG00000037079 ENST00000307340.3:c.14322C>T 1.__UNKNOWN__:g.215823955G>A Q5VVM9|Q6S362|Q9NS27 __UNKNOWN__ CCDS31025.1 USH2A-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000128138.1 - ENST00000307340.3 Silent SNP PCPG-TCGA-S7-A7WU-Normal-SM-5EMNH DHX16 8449 broad.mit.edu 37 6 30633377 30633377 + Missense_Mutation SNP C C T rs139415113 TCGA-S7-A7WU-01A-11D-A35I-08 TCGA-S7-A7WU-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb 7e54767e-763c-4d5f-a1d0-3eed338704c3 g.chr6:30633377C>T ENST00000376442.3 - 5.0 995 c.800G>A c.(799-801)cGg>cAg p.R267Q NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 267.0 mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724) kidney(2)|ovary(2) 4.0 GAGCTCCTGCCGCTCGTGCCG 0.627 0 C GLN/ARG,GLN/ARG 0,3020 0,0,1510 69.0 70.0 69.0 620,800 3.3 0.9 6 dbSNP_134 69.0 1,5415 0,1,2707 yes missense,missense DHX16 NM_001164239.1,NM_003587.4 43,43 0,1,4217 TT,TC,CC 0.0185,0.0,0.0119 benign,benign 207/982,267/1042 30633377.0 1,8435 1510.0 2708.0 4218.0 SO:0001583 missense AB001601 CCDS4685.1 6p21.3 2010-02-17 2003-06-13 2003-06-20 ENSG00000204560 ENSG00000204560 8449.0 8449.0 """DEAH-boxes""" 2739.0 protein-coding gene gene with protein product 603405.0 """DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16""" DDX16 9547260 Standard NM_003587 NM_003587 Approved DBP2, Prp2, PRPF2 uc003nqz.3 O60231 OTTHUMG00000031060 ENST00000376442.3:c.800G>A 6.__UNKNOWN__:g.30633377C>T ENSP00000365625:p.Arg267Gln O60322|Q5JP45|Q969X7|Q96QC1 __UNKNOWN__ CCDS4685.1 . . . . . . . . . . c 14.92 2.678259 0.47886 0.0 1.85E-4 ENSG00000204560 ENST00000376442;ENST00000415603 T;T 0.46063 0.88;0.88 5.12 3.31 0.37934 . 0.427120 0.24039 N 0.042112 T 0.09158 0.0226 N 0.16656 0.425 0.58432 D 0.999995 B;B 0.23650 0.089;0.024 B;B 0.14578 0.011;0.006 T 0.09271 -1.0682 10 0.33141 T 0.24 . 3.6175 0.08083 0.1795:0.566:0.0:0.2545 . 207;267 B4DZ28;O60231 .;DHX16_HUMAN Q 267;207 ENSP00000365625:R267Q;ENSP00000399101:R207Q ENSP00000365625:R267Q R - 2 0 DHX16 30741356 0.000000 0.05858 0.942000 0.38095 0.883000 0.51084 -0.421000 0.07053 0.699000 0.31761 0.586000 0.80456 CGG DHX16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076076.2 - ENST00000376442.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WU-Normal-SM-5EMNH KIF3C 3797 broad.mit.edu 37 2 26203255 26203255 + Missense_Mutation SNP G G A TCGA-S7-A7WU-01A-11D-A35I-08 TCGA-S7-A7WU-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb 7e54767e-763c-4d5f-a1d0-3eed338704c3 g.chr2:26203255G>A ENST00000264712.3 - 1.0 2111 c.1532C>T c.(1531-1533)gCg>gTg p.A511V KIF3C_ENST00000405914.1_Missense_Mutation_p.A511V NM_002254.6 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 511.0 antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384) cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774) breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29.0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTACTTGGCCGCAAGCAGCTC 0.627 0 G VAL/ALA 0,4406 0,0,2203 47.0 46.0 46.0 1532 5.6 0.7 2 46.0 1,8599 1.2+/-3.3 0,1,4299 no missense KIF3C NM_002254.6 64 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 probably-damaging 511/794 26203255.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense CCDS1719.1 2p23 2008-02-05 ENSG00000084731 ENSG00000084731 3797.0 3797.0 """Kinesins""" 6321.0 protein-coding gene gene with protein product 602845.0 9480755 Standard NM_002254 Approved uc002rgu.2 O14782 OTTHUMG00000094797 ENST00000264712.3:c.1532C>T 2.__UNKNOWN__:g.26203255G>A ENSP00000264712:p.Ala511Val O43544|Q4ZG18|Q53SX5|Q562F7 __UNKNOWN__ CCDS1719.1 . . . . . . . . . . G 11.38 1.621697 0.28889 0.0 1.16E-4 ENSG00000084731 ENST00000264712;ENST00000542511;ENST00000405914 T;T 0.73575 -0.76;-0.76 5.62 5.62 0.85841 . 0.211050 0.49916 D 0.000138 T 0.63058 0.2479 L 0.31371 0.925 0.49915 D 0.99983 B;D 0.56035 0.449;0.974 B;B 0.38225 0.061;0.268 T 0.64626 -0.6363 10 0.31617 T 0.26 . 18.223 0.89907 0.0:0.0:1.0:0.0 . 511;511 B7ZM25;O14782 .;KIF3C_HUMAN V 511;317;511 ENSP00000264712:A511V;ENSP00000385030:A511V ENSP00000264712:A511V A - 2 0 KIF3C 26056759 0.972000 0.33761 0.677000 0.29947 0.998000 0.95712 2.566000 0.45948 2.653000 0.90120 0.655000 0.94253 GCG KIF3C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000211611.1 - ENST00000264712.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WU-Normal-SM-5EMNH SPATA16 83893 broad.mit.edu 37 3 172642091 172642091 + Silent SNP G G A TCGA-S7-A7WU-01A-11D-A35I-08 TCGA-S7-A7WU-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb 7e54767e-763c-4d5f-a1d0-3eed338704c3 g.chr3:172642091G>A ENST00000351008.3 - 8.0 1428 c.1245C>T c.(1243-1245)ttC>ttT p.F415F NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 415.0 cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) Golgi apparatus (GO:0005794) breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43.0 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TGGTCAGACCGAAAGGTGTTT 0.338 0 102.0 98.0 99.0 3 172642091.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF345909 CCDS3221.1 3q26.31 2009-01-05 ENSG00000144962 ENSG00000144962 83893.0 83893.0 29935.0 protein-coding gene gene with protein product 609856.0 12529416, 17847006 Standard NM_031955 NM_031955 Approved NYD-SP12 uc003fin.4 Q9BXB7 OTTHUMG00000156865 ENST00000351008.3:c.1245C>T 3.__UNKNOWN__:g.172642091G>A Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67 __UNKNOWN__ CCDS3221.1 SPATA16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346322.1 - ENST00000351008.3 Silent SNP PCPG-TCGA-S7-A7WU-Normal-SM-5EMNH Unknown 0 bcgsc.ca 37 4 70261534 70261534 + RNA SNP C C T TCGA-S7-A7WU-01A-11D-A35I-08 TCGA-S7-A7WU-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb 7e54767e-763c-4d5f-a1d0-3eed338704c3 g.chr4:70261534C>T UGT2B28 (100766 upstream) : AC108078.1 (83514 downstream) TGGCCAAGATCCCACAAAAGG 0.403 0 SO:0001628 intergenic_variant 4.__UNKNOWN__:g.70261534C>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-S7-A7WU-Normal-SM-5EMNH DNAH11 8701 ucsc.edu 37 7 21939607 21939607 + Missense_Mutation SNP A A G TCGA-S7-A7WU-01A-11D-A35I-08 TCGA-S7-A7WU-10A-01D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb 7e54767e-763c-4d5f-a1d0-3eed338704c3 g.chr7:21939607A>G ENST00000409508.3 + 81.0 13203 c.13172A>G c.(13171-13173)cAg>cGg p.Q4391R DNAH11_ENST00000328843.6_Missense_Mutation_p.Q4398R NM_001277115.1 NP_001264044.1 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4398.0 microtubule-based movement (GO:0007018) cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) 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) 230.0 GCAATCATGCAGACGATGGCT 0.428 Kartagener syndrome 0 53.0 53.0 53.0 7 21939607.0 1865.0 4096.0 5961.0 SO:0001583 missense Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome U83569 CCDS64602.1 7p21 2008-07-18 2006-09-04 8701.0 8701.0 """Axonemal dyneins""" 2942.0 protein-coding gene gene with protein product """dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like""" 603339 """dynein, axonemal, heavy polypeptide 11""" 9256245 Standard NM_003777 NM_001277115 Approved Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL uc031swp.1 Q96DT5 ENST00000409508.3:c.13172A>G 7.__UNKNOWN__:g.21939607A>G ENSP00000475939:p.Gln4391Arg Q9UJ82 __UNKNOWN__ . . . . . . . . . . A 28.1 4.891856 0.91889 . . ENSG00000105877 ENST00000328843 T 0.26373 1.74 5.63 5.63 0.86233 Dynein heavy chain (1); 0.000000 0.85682 D 0.000000 T 0.53578 0.1805 . . . 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 T 0.58781 -0.7576 9 0.87932 D 0 . 15.87 0.79108 1.0:0.0:0.0:0.0 . 4398 Q96DT5 DYH11_HUMAN R 4398 ENSP00000330671:Q4398R ENSP00000330671:Q4398R Q + 2 0 DNAH11 21906132 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 9.223000 0.95203 2.145000 0.66743 0.533000 0.62120 CAG DNAH11-001 KNOWN basic|appris_candidate protein_coding protein_coding OTTHUMT00000326582.6 + ENST00000409508.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WU-Normal-SM-5EMNH ACSM3 6296 broad.mit.edu 37 16 20796355 20796355 + Missense_Mutation SNP A A T TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr16:20796355A>T ENST00000289416.5 + 8.0 1544 c.1069A>T c.(1069-1071)Acc>Tcc p.T357S ACSM3_ENST00000567387.1_3'UTR|ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000450120.2_Missense_Mutation_p.T349S|ACSM3_ENST00000440284.2_Missense_Mutation_p.T357S NM_005622.3 NP_005613.2 Q53FZ2 ACSM3_HUMAN acyl-CoA synthetase medium-chain family member 3 357.0 cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217) mitochondrial matrix (GO:0005759) ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872) breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21.0 GGAACCAATTACCCCTGACGT 0.418 0 126.0 116.0 119.0 16 20796355.0 2201.0 4300.0 6501.0 SO:0001583 missense D16350 CCDS10589.1, CCDS45435.1 16p13.11 2006-02-08 2005-09-08 2005-09-08 ENSG00000005187 ENSG00000005187 6296.0 6296.0 """Acyl-CoA synthetase family""" 10522.0 protein-coding gene gene with protein product 145505.0 """SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)""" SAH 7843754, 7907320, 11470804 Standard NM_005622 NM_005622 Approved SA uc002dhr.3 Q53FZ2 OTTHUMG00000131552 ENST00000289416.5:c.1069A>T 16.__UNKNOWN__:g.20796355A>T ENSP00000289416:p.Thr357Ser O60363|Q13732|Q15425|Q7KYM6|Q9BUA2 __UNKNOWN__ CCDS10589.1 . . . . . . . . . . A 13.91 2.378591 0.42207 . . ENSG00000005187 ENST00000289416;ENST00000440284;ENST00000450120 T;T;T 0.44083 0.93;0.93;0.93 5.34 5.34 0.76211 AMP-dependent synthetase/ligase (1); 0.105307 0.64402 N 0.000008 T 0.28001 0.0690 N 0.10972 0.075 0.80722 D 1 B;B;B 0.11235 0.003;0.001;0.004 B;B;B 0.15870 0.014;0.009;0.008 T 0.06752 -1.0809 10 0.54805 T 0.06 -3.1955 15.6035 0.76642 1.0:0.0:0.0:0.0 . 349;357;357 E7ETR5;Q53FZ2;Q53FZ2-2 .;ACSM3_HUMAN;. S 357;357;349 ENSP00000289416:T357S;ENSP00000394565:T357S;ENSP00000395297:T349S ENSP00000289416:T357S T + 1 0 ACSM3 20703856 1.000000 0.71417 0.180000 0.23079 0.216000 0.24613 7.651000 0.83577 2.148000 0.66965 0.533000 0.62120 ACC ACSM3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254414.2 + ENST00000289416.5 Missense_Mutation SNP PCPG-TCGA-S7-A7WV-Normal-SM-5EMNS LHX9 56956 broad.mit.edu 37 1 197887022 197887022 + Silent SNP C C T TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr1:197887022C>T ENST00000367387.4 + 1.0 494 c.69C>T c.(67-69)caC>caT p.H23H LHX9_ENST00000367390.3_Silent_p.H14H|LHX9_ENST00000367391.1_Silent_p.H14H|LHX9_ENST00000337020.2_Silent_p.H23H|LHX9_ENST00000561173.1_Silent_p.H29H|LHX9_ENST00000606127.1_3'UTR NM_020204.2 NP_064589.2 Q9NQ69 LHX9_HUMAN LIM homeobox 9 23.0 cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35.0 TGCTCTTTCACGGGATCTCCG 0.612 0 102.0 101.0 101.0 1 197887022.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AJ277915 CCDS1393.1, CCDS30962.1 1q31.1 2011-06-20 ENSG00000143355 ENSG00000143355 56956.0 56956.0 """Homeoboxes / LIM class""" 14222.0 protein-coding gene gene with protein product 606066.0 Standard NM_020204 NM_020204 Approved uc001guk.1 Q9NQ69 OTTHUMG00000035656 ENST00000367387.4:c.69C>T 1.__UNKNOWN__:g.197887022C>T Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70 __UNKNOWN__ CCDS1393.1 LHX9-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086547.2 + ENST00000367387.4 Silent SNP PCPG-TCGA-S7-A7WV-Normal-SM-5EMNS KMT2C 58508 broad.mit.edu 37 7 151864310 151864310 + Missense_Mutation SNP C C T TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr7:151864310C>T ENST00000262189.6 - 42.0 9889 c.9671G>A c.(9670-9672)cGt>cAt p.R3224H KMT2C_ENST00000355193.2_Missense_Mutation_p.R3224H NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 3224.0 Gln-rich. histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) TGGAAATTCACGCCCAGCTTT 0.408 0 146.0 134.0 138.0 7 151864310.0 2203.0 4300.0 6503.0 SO:0001583 missense AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508.0 58508.0 """Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type""" 13726.0 protein-coding gene gene with protein product 606833.0 """myeloid/lymphoid or mixed-lineage leukemia 3""" MLL3 10819331 Standard XM_005250026 Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.9671G>A 7.__UNKNOWN__:g.151864310C>T ENSP00000262189:p.Arg3224His Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 __UNKNOWN__ CCDS5931.1 . . . . . . . . . . C 25.0 4.591795 0.86953 . . ENSG00000055609 ENST00000262189;ENST00000355193 D;D 0.86230 -2.09;-2.09 5.83 5.83 0.93111 . 0.000000 0.46145 D 0.000307 D 0.89656 0.6778 N 0.19112 0.55 0.80722 D 1 D;D;D 0.89917 1.0;0.977;1.0 D;D;D 0.91635 0.997;0.935;0.999 D 0.90965 0.4815 10 0.87932 D 0 . 20.115 0.97926 0.0:1.0:0.0:0.0 . 3224;2285;3224 Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3 MLL3_HUMAN;.;. H 3224 ENSP00000262189:R3224H;ENSP00000347325:R3224H ENSP00000262189:R3224H R - 2 0 MLL3 151495243 1.000000 0.71417 0.977000 0.42913 0.992000 0.81027 7.776000 0.85560 2.761000 0.94854 0.650000 0.86243 CGT KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000318887.3 - ENST00000262189.6 Missense_Mutation SNP PCPG-TCGA-S7-A7WV-Normal-SM-5EMNS DDX21 9188 broad.mit.edu 37 10 70733319 70733319 + Missense_Mutation SNP C C T TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr10:70733319C>T ENST00000354185.4 + 10.0 1665 c.1567C>T c.(1567-1569)Cat>Tat p.H523Y NM_001256910.1|NM_004728.3 NP_001243839.1|NP_004719.2 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 21 523.0 Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}. ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615) membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20.0 GTCCTACATTCATCGATCCGG 0.448 0 84.0 83.0 84.0 10 70733319.0 2203.0 4300.0 6503.0 SO:0001583 missense U41387 CCDS31211.1, CCDS73144.1 10q21 2013-05-13 2012-02-23 ENSG00000165732 ENSG00000165732 9188.0 9188.0 """DEAD-boxes""" 2744.0 protein-coding gene gene with protein product 606357.0 """DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21""" 8614622, 18180292 Standard NM_004728 NM_004728 Approved RH-II/GU, GURDB uc001jov.2 Q9NR30 OTTHUMG00000018366 ENST00000354185.4:c.1567C>T 10.__UNKNOWN__:g.70733319C>T ENSP00000346120:p.His523Tyr B2RDL0|Q13436|Q5VX41|Q68D35 __UNKNOWN__ CCDS31211.1 . . . . . . . . . . C 25.2 4.608639 0.87258 . . ENSG00000165732 ENST00000354185 T 0.80123 -1.34 5.07 5.07 0.68467 Helicase, C-terminal (3); 0.044707 0.85682 D 0.000000 D 0.93488 0.7922 H 0.98388 4.22 0.80722 D 1 D 0.60575 0.988 P 0.61722 0.893 D 0.96069 0.9044 10 0.87932 D 0 -31.9356 18.83 0.92135 0.0:1.0:0.0:0.0 . 523 Q9NR30 DDX21_HUMAN Y 523 ENSP00000346120:H523Y ENSP00000346120:H523Y H + 1 0 DDX21 70403325 1.000000 0.71417 1.000000 0.80357 0.979000 0.70002 7.252000 0.78309 2.493000 0.84123 0.655000 0.94253 CAT DDX21-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048374.1 + ENST00000354185.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WV-Normal-SM-5EMNS COPA 1314 broad.mit.edu 37 1 160261696 160261696 + Silent SNP G G A TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr1:160261696G>A ENST00000241704.7 - 30.0 3400 c.3171C>T c.(3169-3171)tgC>tgT p.C1057C COPA_ENST00000368069.3_Silent_p.C1066C NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 1057.0 COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) structural molecule activity (GO:0005198) central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46.0 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGTACTCACGGCAAATGGTGA 0.522 OREG0013929 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 191.0 193.0 192.0 1 160261696.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U24105 CCDS1202.1, CCDS41424.1 1q23.2 2014-01-30 ENSG00000122218 ENSG00000122218 1314.0 1314.0 """WD repeat domain containing"", ""Endogenous ligands""" 2230.0 protein-coding gene gene with protein product """proxenin"", ""xenin""" 601924.0 8647451 Standard NM_004371 NM_004371 Approved HEP-COP uc001fvv.4 P53621 OTTHUMG00000033111 ENST00000241704.7:c.3171C>T 1.__UNKNOWN__:g.160261696G>A 1807.0 Q5T201|Q8IXZ9 __UNKNOWN__ CCDS1202.1 COPA-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080638.1 - ENST00000241704.7 Silent SNP PCPG-TCGA-S7-A7WV-Normal-SM-5EMNS TATDN2 9797 broad.mit.edu 37 3 10311971 10311971 + Missense_Mutation SNP A A G TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr3:10311971A>G ENST00000287652.4 + 4.0 2156 c.1105A>G c.(1105-1107)Atg>Gtg p.M369V RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.M369V NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 369.0 activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968) intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654) deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872) 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) 28.0 CGACTATGTCATGTACCCTCC 0.542 0 166.0 158.0 161.0 3 10311971.0 2203.0 4300.0 6503.0 SO:0001583 missense D86972 CCDS33698.1 3p25.3 2010-11-24 ENSG00000157014 ENSG00000157014 9797.0 9797.0 28988.0 protein-coding gene gene with protein product 9039502 Standard XM_376203 NM_014760 Approved KIAA0218 uc003bvf.3 Q93075 OTTHUMG00000155361 ENST00000287652.4:c.1105A>G 3.__UNKNOWN__:g.10311971A>G ENSP00000287652:p.Met369Val Q3MIL9|Q5BKU0 __UNKNOWN__ CCDS33698.1 . . . . . . . . . . A 13.84 2.356410 0.41700 . . ENSG00000157014 ENST00000287652;ENST00000448281 T;T 0.38240 1.15;1.15 4.73 4.73 0.59995 . 0.000000 0.43919 D 0.000506 T 0.34193 0.0889 M 0.62723 1.935 0.34017 D 0.65223 P 0.35383 0.498 B 0.29598 0.104 T 0.56817 -0.7916 10 0.87932 D 0 -37.6096 12.5379 0.56152 1.0:0.0:0.0:0.0 . 369 Q93075 TATD2_HUMAN V 369 ENSP00000287652:M369V;ENSP00000408736:M369V ENSP00000287652:M369V M + 1 0 TATDN2 10286971 1.000000 0.71417 1.000000 0.80357 0.954000 0.61252 5.589000 0.67523 1.908000 0.55244 0.524000 0.50904 ATG TATDN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000339641.1 + ENST00000287652.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WV-Normal-SM-5EMNS MPP2 4355 broad.mit.edu 37 17 41958169 41958169 + Missense_Mutation SNP G G A rs143986614 by1000genomes TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr17:41958169G>A ENST00000377184.3 - 9.0 1136 c.1091C>T c.(1090-1092)cCg>cTg p.P364L MPP2_ENST00000269095.4_Missense_Mutation_p.P347L|MPP2_ENST00000520305.1_Missense_Mutation_p.P208L|MPP2_ENST00000523501.1_Missense_Mutation_p.P336L|MPP2_ENST00000461854.1_Missense_Mutation_p.P371L|MPP2_ENST00000536246.1_Missense_Mutation_p.P336L|MPP2_ENST00000518766.1_Missense_Mutation_p.P392L NM_001278371.1|NM_001278372.1|NM_001278373.1|NM_001278374.1|NM_001278375.1|NM_001278376.1 NP_001265300.1|NP_001265301.1|NP_001265302.1|NP_001265303.1|NP_001265304.1|NP_001265305.1 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 371.0 nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) guanylate kinase activity (GO:0004385) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29.0 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CCGGCGGAACGGGGGCATGCG 0.612 OREG0024443 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) g 1.0 0.0005 0.002 2184.0 0.9999 , , 0.0003 0.0005 0.9135 LOWCOV,EXOME 0.0006 SNP 0 78.0 73.0 75.0 17 41958169.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1 17q12-q21 2008-07-18 ENSG00000108852 ENSG00000108852 4355.0 4355.0 7220.0 protein-coding gene gene with protein product """MAGUK p55 subfamily member 2"", ""discs large, homolog 2""" 600723.0 DLG2 7590743 Standard NM_005374 NM_001278370 Approved DKFZp761D0712 uc002ieo.1 Q14168 OTTHUMG00000133840 ENST00000377184.3:c.1091C>T 17.__UNKNOWN__:g.41958169G>A ENSP00000366389:p.Pro364Leu 905.0 B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2 __UNKNOWN__ 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 g 32 5.128724 0.94473 . . ENSG00000108852 ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766 T;T;T;T;T;T;T 0.17528 2.27;2.27;2.27;2.27;2.27;2.27;2.27 5.17 5.17 0.71159 . . . . . T 0.48314 0.1493 M 0.86343 2.81 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.78314 0.973;0.991 T 0.55296 -0.8163 9 0.72032 D 0.01 . 16.5636 0.84573 0.0:0.0:1.0:0.0 . 392;364 E7EV80;Q14168-3 .;. L 364;347;371;208;336;336;392 ENSP00000366389:P364L;ENSP00000269095:P347L;ENSP00000428286:P371L;ENSP00000428136:P208L;ENSP00000430540:P336L;ENSP00000438012:P336L;ENSP00000428182:P392L ENSP00000269095:P347L P - 2 0 MPP2 39313695 1.000000 0.71417 0.966000 0.40874 0.928000 0.56348 9.716000 0.98752 2.592000 0.87571 0.485000 0.47835 CCG MPP2-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000258387.1 - ENST00000377184.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WV-Normal-SM-5EMNS C20orf96 140680 broad.mit.edu 37 20 257757 257757 + Silent SNP G G C TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr20:257757G>C ENST00000360321.2 - 8.0 891 c.753C>G c.(751-753)cgC>cgG p.R251R C20orf96_ENST00000382369.5_Silent_p.R216R|C20orf96_ENST00000400269.3_Silent_p.R193R NM_080571.1|NM_153269.2 NP_542138.1|NP_695001.2 Q9NUD7 CT096_HUMAN chromosome 20 open reading frame 96 251.0 endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12.0 all_cancers(10;0.00959)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.149) GGACCTTTCTGCGCATCTCAC 0.557 0 133.0 147.0 142.0 20 257757.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AL034548 CCDS12994.1, CCDS74685.1 20p13 2012-10-30 ENSG00000196476 ENSG00000196476 140680.0 140680.0 16227.0 protein-coding gene gene with protein product Standard NM_153269 NM_153269 Approved dJ1103G7.2 uc002wde.2 Q9NUD7 OTTHUMG00000031626 ENST00000360321.2:c.753C>G 20.__UNKNOWN__:g.257757G>C A3KPE0|B2RPH9|Q8N840|Q8NAX5 __UNKNOWN__ CCDS12994.1 C20orf96-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077439.2 - ENST00000360321.2 Silent SNP PCPG-TCGA-S7-A7WV-Normal-SM-5EMNS FBN2 2201 broad.mit.edu 37 5 127641239 127641239 + Missense_Mutation SNP C C T TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr5:127641239C>T ENST00000508053.1 - 50.0 6612 c.5638G>A c.(5638-5640)Gcg>Acg p.A1880T FBN2_ENST00000262464.4_Missense_Mutation_p.A1880T P35556 FBN2_HUMAN fibrillin 2 1880.0 EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583) extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) 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) 197.0 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) TTGAAACCCGCGGCACATTCA 0.458 0 82.0 82.0 82.0 5 127641239.0 2203.0 4300.0 6503.0 SO:0001583 missense U03272 CCDS34222.1 5q23-q31 2008-08-01 2008-08-01 ENSG00000138829 2201.0 2201.0 3604.0 protein-coding gene gene with protein product """fibrillin 5""" 612570.0 """congenital contractural arachnodactyly""" CCA 1852206, 8120105 Standard NM_001999 NM_001999 Approved DA9 uc003kuu.3 P35556 ENST00000508053.1:c.5638G>A 5.__UNKNOWN__:g.127641239C>T ENSP00000424571:p.Ala1880Thr B4DU01|Q59ES6 __UNKNOWN__ CCDS34222.1 . . . . . . . . . . C 2.756 -0.259041 0.05791 . . ENSG00000138829 ENST00000262464;ENST00000508053 D;D 0.92199 -2.99;-2.99 5.25 2.55 0.30701 EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1); 0.095329 0.46145 N 0.000314 D 0.85252 0.5654 L 0.37630 1.12 0.18873 N 0.999982 B 0.10296 0.003 B 0.08055 0.003 T 0.70382 -0.4887 10 0.24483 T 0.36 . 8.7396 0.34550 0.0:0.7166:0.0:0.2834 . 1880 P35556 FBN2_HUMAN T 1880 ENSP00000262464:A1880T;ENSP00000424571:A1880T ENSP00000262464:A1880T A - 1 0 FBN2 127669138 0.100000 0.21855 0.010000 0.14722 0.101000 0.19017 1.109000 0.31135 0.476000 0.27440 -0.469000 0.05056 GCG FBN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000371618.2 - ENST00000508053.1 Missense_Mutation SNP PCPG-TCGA-S7-A7WV-Normal-SM-5EMNS ACE 1636 broad.mit.edu 37 17 61560877 61560877 + Missense_Mutation SNP C C T TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr17:61560877C>T ENST00000290866.4 + 10.0 1568 c.1544C>T c.(1543-1545)gCt>gTt p.A515V ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Silent_p.L467L|ACE_ENST00000428043.1_Missense_Mutation_p.A515V NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 515.0 Peptidase M2 1. angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312) endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270) 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) 51.0 Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CACTTTGATGCTGGAGCTAAG 0.493 0 143.0 133.0 136.0 17 61560877.0 2203.0 4300.0 6503.0 SO:0001583 missense J04144 CCDS11637.1, CCDS45755.1, CCDS54155.1 17q23.3 2013-06-12 2013-06-12 ENSG00000159640 ENSG00000159640 1636.0 1636.0 3.4.15.1 """CD molecules""" 2707.0 protein-coding gene gene with protein product """peptidyl-dipeptidase A""" 106180.0 """angiotensin I converting enzyme (peptidyl-dipeptidase A) 1""" DCP1 2554286, 10319862 Standard NM_001178057 Approved ACE1, CD143 uc002jau.2 P12821 OTTHUMG00000154927 ENST00000290866.4:c.1544C>T 17.__UNKNOWN__:g.61560877C>T ENSP00000290866:p.Ala515Val B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4 __UNKNOWN__ CCDS11637.1 . . . . . . . . . . C 29.4 5.000899 0.93227 . . ENSG00000159640 ENST00000290866;ENST00000428043 T;T 0.34275 1.37;1.37 4.9 4.9 0.64082 . 0.113064 0.64402 D 0.000010 T 0.58192 0.2105 M 0.89214 3.015 0.80722 D 1 D;D 0.63880 0.993;0.971 P;P 0.54856 0.734;0.762 T 0.67035 -0.5772 10 0.66056 D 0.02 -15.5939 13.6101 0.62074 0.0:0.9234:0.0:0.0766 . 515;515 P12821-2;P12821 .;ACE_HUMAN V 515 ENSP00000290866:A515V;ENSP00000397593:A515V ENSP00000290866:A515V A + 2 0 ACE 58914609 0.977000 0.34250 0.997000 0.53966 0.986000 0.74619 5.239000 0.65371 2.541000 0.85698 0.455000 0.32223 GCT ACE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337675.2 + ENST00000290866.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WV-Normal-SM-5EMNS CCDC180 100499483 bcgsc.ca 37 9 100077190 100077190 + Missense_Mutation SNP C C T TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr9:100077190C>T ENST00000529487.1 + 8.0 986 c.889C>T c.(889-891)Cgg>Tgg p.R297W CCDC180_ENST00000375202.2_Missense_Mutation_p.R297W|CCDC180_ENST00000395220.1_Missense_Mutation_p.R436W|CCDC180_ENST00000411667.2_Missense_Mutation_p.R294W|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.R436W NM_020893.2 NP_065944.2 Q9P1Z9 CC180_HUMAN coiled-coil domain containing 180 436.0 extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) CTACCTCATGCGGCCCGAAGT 0.493 0 C TRP/ARG 0,4406 0,0,2203 90.0 85.0 87.0 889 3.9 1.0 9 87.0 1,8599 1.2+/-3.3 0,1,4299 yes missense C9orf174 NM_020893.2 101 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 probably-damaging 297/1702 100077190.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AK123391 CCDS35077.1, CCDS35077.2 9q22.33 2013-03-08 2013-03-08 2013-03-08 ENSG00000197816 100499483.0 100499483.0 29303.0 protein-coding gene gene with protein product """Behcet's Disease Associated Gene 1""" """KIAA1529"", ""chromosome 9 open reading frame 174""" KIAA1529, C9orf174 10819331 Standard NM_020893 NM_020893 Approved DKFZp434I2420, BDAG1 uc004axg.2 Q9P1Z9 OTTHUMG00000167001 ENST00000529487.1:c.889C>T 9.__UNKNOWN__:g.100077190C>T ENSP00000434727:p.Arg297Trp Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0 __UNKNOWN__ CCDS35077.2 . . . . . . . . . . C 12.92 2.082601 0.36758 0.0 1.16E-4 ENSG00000197816 ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487 T;T;T;T;T 0.25085 1.82;1.82;1.82;1.82;1.82 5.85 3.93 0.45458 . 0.811347 0.11165 N 0.592605 T 0.30696 0.0773 N 0.22421 0.69 0.24609 N 0.99374 D;D;D;D 0.76494 0.999;0.997;0.997;0.997 P;P;P;P 0.59948 0.866;0.627;0.627;0.627 T 0.10428 -1.0630 10 0.72032 D 0.01 -14.6815 7.707 0.28657 0.1793:0.7346:0.0:0.0861 . 294;436;297;436 F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9 .;.;.;CI174_HUMAN W 436;436;297;294;320;297 ENSP00000349562:R436W;ENSP00000378646:R436W;ENSP00000364348:R297W;ENSP00000414000:R294W;ENSP00000434727:R297W ENSP00000349562:R436W R + 1 2 C9orf174 99117011 0.773000 0.28580 0.974000 0.42286 0.264000 0.26372 1.891000 0.39738 1.555000 0.49500 0.655000 0.94253 CGG CCDC180-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000383515.2 + ENST00000529487.1 Missense_Mutation SNP PCPG-TCGA-S7-A7WV-Normal-SM-5EMNS RP11-340I6.7 0 bcgsc.ca 37 7 63354557 63354557 + RNA SNP G G T TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr7:63354557G>T ENST00000587736.1 - 0.0 566 TACAAAGAGCGCCGAGGATTT 0.408 0 ENST00000587736.1: 7.__UNKNOWN__:g.63354557G>T __UNKNOWN__ RP11-340I6.7-003 KNOWN basic lincRNA lincRNA OTTHUMT00000447757.1 - ENST00000587736.1 lincRNA SNP PCPG-TCGA-S7-A7WV-Normal-SM-5EMNS BRCC3 79184 ucsc.edu 37 X 154327660 154327660 + Missense_Mutation SNP G G A TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chrX:154327660G>A ENST00000340647.4 + 7.0 659 BRCC3_ENST00000330045.7_Intron|BRCC3_ENST00000399042.1_Missense_Mutation_p.E207K|BRCC3_ENST00000369462.1_Missense_Mutation_p.E207K|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000369459.2_Intron P46736 BRCC3_HUMAN BRCA1/BRCA2-containing complex, subunit 3 double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165) BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151) enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) 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) 22.0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) gaaggaagaggaaaggtagga 0.517 0 43.0 39.0 40.0 X 154327660.0 1904.0 4118.0 6022.0 SO:0001627 intron_variant X64643 CCDS56610.1, CCDS56611.1, CCDS56612.1 Xq28 2013-05-29 2005-11-21 2005-11-21 ENSG00000185515 ENSG00000185515 79184.0 79184.0 24185.0 protein-coding gene gene with protein product """Lys-63-specific deubiquitinase""" 300617 """chromosome X open reading frame 53""" CXorf53 1303175, 14636569 Standard NM_024332 NM_024332 Approved C6.1A, BRCC36 uc004fna.3 P46736 OTTHUMG00000022658 ENST00000340647.4:c.551+8546G>A X.__UNKNOWN__:g.154327660G>A A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6 __UNKNOWN__ CCDS56610.1 . . . . . . . . . . G 8.189 0.795587 0.16327 . . ENSG00000185515 ENST00000369462;ENST00000411985;ENST00000399042 T;T;T 0.42513 1.0;0.97;1.0 1.07 1.07 0.20283 . . . . . T 0.21761 0.0524 N 0.08118 0 0.80722 D 1 P 0.34587 0.458 B 0.39152 0.292 T 0.04373 -1.0956 9 0.35671 T 0.21 . 5.2912 0.15727 0.0:0.0:1.0:0.0 . 207 P46736 BRCC3_HUMAN K 207;183;207 ENSP00000358474:E207K;ENSP00000413170:E183K;ENSP00000381998:E207K ENSP00000358474:E207K E + 1 0 BRCC3 153980854 1.000000 0.71417 0.999000 0.59377 0.988000 0.76386 1.364000 0.34171 0.858000 0.35431 0.405000 0.27470 GAA BRCC3-006 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316164.1 + ENST00000340647.4 Intron SNP PCPG-TCGA-S7-A7WV-Normal-SM-5EMNS USP16 10600 ucsc.edu 37 21 30400238 30400238 + Missense_Mutation SNP G G A TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr21:30400238G>A ENST00000334352.4 + 3.0 235 c.4G>A c.(4-6)Gga>Aga p.G2R USP16_ENST00000399975.3_Missense_Mutation_p.G2R|USP16_ENST00000535828.1_Intron|USP16_ENST00000399976.2_Missense_Mutation_p.G2R NM_001032410.1 NP_001027582.1 ubiquitin specific peptidase 16 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) 34.0 TGCCAACATGGGAAAGAAACG 0.294 Melanoma(92;625 1444 27493 34101 44971) 0 121.0 112.0 115.0 21 30400238.0 2203.0 4297.0 6500.0 SO:0001583 missense AF126736 CCDS13583.1, CCDS42912.1 21q21 2008-04-11 2005-08-08 ENSG00000156256 ENSG00000156256 10600.0 """Ubiquitin-specific peptidases""" 12614.0 protein-coding gene gene with protein product 604735 """ubiquitin specific protease 16""" 12838346 Standard NM_006447 Approved Ubp-M uc002ymy.3 Q9Y5T5 OTTHUMG00000078802 ENST00000334352.4:c.4G>A 21.__UNKNOWN__:g.30400238G>A ENSP00000334808:p.Gly2Arg __UNKNOWN__ CCDS13583.1 . . . . . . . . . . G 21.3 4.129302 0.77549 . . ENSG00000156256 ENST00000399975;ENST00000399976;ENST00000334352;ENST00000399973 T;T;T;T 0.56611 2.38;2.38;2.38;0.45 4.56 4.56 0.56223 . 0.064313 0.64402 D 0.000008 T 0.61652 0.2364 L 0.29908 0.895 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.83275 0.996;0.991 T 0.65080 -0.6255 10 0.59425 D 0.04 . 15.6963 0.77502 0.0:0.0:1.0:0.0 . 2;2 Q9Y5T5-2;Q9Y5T5 .;UBP16_HUMAN R 2 ENSP00000382857:G2R;ENSP00000382858:G2R;ENSP00000334808:G2R;ENSP00000382855:G2R ENSP00000334808:G2R G + 1 0 USP16 29322109 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.497000 0.66924 2.356000 0.79943 0.655000 0.94253 GGA USP16-003 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000171847.1 + ENST00000334352.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WV-Normal-SM-5EMNS SLC27A6 28965 broad.mit.edu 37 5 128301920 128301920 + Missense_Mutation SNP C C A TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr5:128301920C>A ENST00000262462.4 + 1.0 1100 c.90C>A c.(88-90)gaC>gaA p.D30E SLC27A6_ENST00000395266.1_Missense_Mutation_p.D30E|SLC27A6_ENST00000506176.1_Missense_Mutation_p.D30E Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 30.0 long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957) NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44.0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TTTGGGATGACTTCTGGTTCG 0.478 0 107.0 105.0 106.0 5 128301920.0 2203.0 4300.0 6503.0 SO:0001583 missense AF064254 CCDS4145.1 5q23.3 2013-05-22 ENSG00000113396 ENSG00000113396 28965.0 28965.0 """Acyl-CoA synthetase family"", ""Solute carriers""" 11000.0 protein-coding gene gene with protein product """fatty-acid-Coenzyme A ligase, very long-chain 2""" 604196.0 12556534, 10479480 Standard NM_014031 XM_005271967 Approved FATP6, VLCS-H1, FACVL2, ACSVL2 uc003kuy.3 Q9Y2P4 OTTHUMG00000128991 ENST00000262462.4:c.90C>A 5.__UNKNOWN__:g.128301920C>A ENSP00000262462:p.Asp30Glu Q6IAM5|Q7Z6E6|Q86YF6 __UNKNOWN__ CCDS4145.1 . . . . . . . . . . c 12.91 2.080369 0.36662 . . ENSG00000113396 ENST00000262462;ENST00000395266;ENST00000506176 T;T;T 0.46451 0.87;0.87;0.87 4.44 0.473 0.16763 . 0.000000 0.85682 D 0.000000 T 0.61022 0.2314 M 0.79926 2.475 0.50467 D 0.999879 D 0.76494 0.999 D 0.75484 0.986 T 0.61633 -0.7023 10 0.56958 D 0.05 -10.9229 10.7415 0.46156 0.0:0.6626:0.0:0.3374 . 30 Q9Y2P4 S27A6_HUMAN E 30 ENSP00000262462:D30E;ENSP00000378684:D30E;ENSP00000421024:D30E ENSP00000262462:D30E D + 3 2 SLC27A6 128329819 0.002000 0.14202 0.249000 0.24280 0.058000 0.15608 -0.092000 0.11129 0.062000 0.16340 -0.224000 0.12420 GAC SLC27A6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250980.1 + ENST00000262462.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WW-Normal-SM-5EMM7 ADCY6 112 broad.mit.edu 37 12 49169216 49169216 + Missense_Mutation SNP G G A TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr12:49169216G>A ENST00000307885.4 - 10.0 2544 c.1850C>T c.(1849-1851)gCc>gTc p.A617V ADCY6_ENST00000357869.3_Missense_Mutation_p.A617V|ADCY6_ENST00000550422.1_Missense_Mutation_p.A617V|ADCY6_ENST00000552090.1_5'UTR NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 617.0 activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901) breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29.0 AGGGTTCAGGGCATCTTGGGT 0.572 0 72.0 65.0 67.0 12 49169216.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS8767.1, CCDS8768.1 12q12-q13 2013-02-04 ENSG00000174233 112.0 112.0 4.6.1.1 """Adenylate cyclases""" 237.0 protein-coding gene gene with protein product 600294.0 Standard NM_020983 NM_015270 Approved AC6 uc001rsh.4 O43306 ENST00000307885.4:c.1850C>T 12.__UNKNOWN__:g.49169216G>A ENSP00000311405:p.Ala617Val Q9NR75|Q9UDB0 __UNKNOWN__ CCDS8767.1 . . . . . . . . . . G 17.50 3.404130 0.62288 . . ENSG00000174233 ENST00000357869;ENST00000550422;ENST00000307885 T;T;T 0.76316 -1.01;-1.01;-1.01 5.07 5.07 0.68467 . 0.065591 0.64402 D 0.000015 T 0.78220 0.4249 L 0.45581 1.43 0.58432 D 0.99999 P;P 0.47191 0.696;0.891 P;P 0.48873 0.457;0.593 T 0.75836 -0.3177 10 0.29301 T 0.29 . 17.614 0.88063 0.0:0.0:1.0:0.0 . 617;617 O43306-2;O43306 .;ADCY6_HUMAN V 617 ENSP00000350536:A617V;ENSP00000446730:A617V;ENSP00000311405:A617V ENSP00000311405:A617V A - 2 0 ADCY6 47455483 0.993000 0.37304 1.000000 0.80357 0.902000 0.53008 2.178000 0.42519 2.533000 0.85409 0.557000 0.71058 GCC ADCY6-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000408863.1 - ENST00000307885.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WW-Normal-SM-5EMM7 FLAD1 80308 broad.mit.edu 37 1 154961060 154961060 + Silent SNP A A G TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr1:154961060A>G ENST00000315144.10 + 3.0 744 c.561A>G c.(559-561)ctA>ctG p.L187L FLAD1_ENST00000405236.2_Silent_p.L185L|FLAD1_ENST00000295530.2_Silent_p.L17L|FLAD1_ENST00000368432.1_Silent_p.L187L|FLAD1_ENST00000368433.1_Silent_p.L284L|FLAD1_ENST00000292180.3_Silent_p.L284L|FLAD1_ENST00000368431.3_Silent_p.L185L|FLAD1_ENST00000368428.1_5'UTR NM_201398.2 NP_958800.1 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 284.0 Molybdenum cofactor biosynthesis protein- like. FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919) endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22.0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CAAAGGAGCTATATGTGGCTG 0.587 0 46.0 43.0 44.0 1 154961060.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1 1q22 2013-03-05 2013-03-05 ENSG00000160688 ENSG00000160688 80308.0 80308.0 2.7.7.2 24671.0 protein-coding gene gene with protein product 610595.0 """Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase""" Standard NM_025207 NM_001184891 Approved PP591, FAD1 uc001fgf.2 Q8NFF5 OTTHUMG00000037416 ENST00000315144.10:c.561A>G 1.__UNKNOWN__:g.154961060A>G Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6 __UNKNOWN__ CCDS1079.1 FLAD1-002 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000091090.1 + ENST00000315144.10 Silent SNP PCPG-TCGA-S7-A7WW-Normal-SM-5EMM7 KRT78 196374 broad.mit.edu 37 12 53241882 53241882 + Missense_Mutation SNP G G T TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr12:53241882G>T ENST00000304620.4 - 2.0 471 c.408C>A c.(406-408)aaC>aaA p.N136K KRT78_ENST00000359499.4_Missense_Mutation_p.N26K NM_173352.2 NP_775487.2 Q8N1N4 K2C78_HUMAN keratin 78 136.0 Coil 1A.|Rod. extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18.0 CCAGGACCTTGTTCTGCTGCT 0.602 0 40.0 36.0 38.0 12 53241882.0 2203.0 4300.0 6503.0 SO:0001583 missense AK096419 CCDS8840.1, CCDS73473.1 12q13.13 2013-06-25 ENSG00000170423 ENSG00000170423 196374.0 196374.0 """-"", ""Intermediate filaments type II, keratins (basic)""" 28926.0 protein-coding gene gene with protein product 611159.0 16831889 Standard NM_173352 XM_005268695 Approved K5B uc001sbc.1 Q8N1N4 OTTHUMG00000169880 ENST00000304620.4:c.408C>A 12.__UNKNOWN__:g.53241882G>T ENSP00000306261:p.Asn136Lys A8K4D6|Q5HYM7|Q7RTT2 __UNKNOWN__ CCDS8840.1 . . . . . . . . . . G 22.1 4.246546 0.80024 . . ENSG00000170423 ENST00000359499;ENST00000304620 D;D 0.97959 -2.85;-4.63 5.12 4.21 0.49690 Filament (1); . . . . D 0.99105 0.9692 H 0.98089 4.145 0.31692 N 0.641758 D 0.89917 1.0 D 0.91635 0.999 D 0.97186 0.9854 9 0.87932 D 0 . 9.456 0.38756 0.1523:0.0:0.8477:0.0 . 136 Q8N1N4 K2C78_HUMAN K 26;136 ENSP00000352479:N26K;ENSP00000306261:N136K ENSP00000306261:N136K N - 3 2 KRT78 51528149 1.000000 0.71417 1.000000 0.80357 0.941000 0.58515 5.704000 0.68347 2.546000 0.85860 0.555000 0.69702 AAC KRT78-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406380.1 - ENST00000304620.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WW-Normal-SM-5EMM7 RADIL 55698 broad.mit.edu 37 7 4876138 4876138 + Missense_Mutation SNP G G A TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr7:4876138G>A ENST00000399583.3 - 3.0 821 c.634C>T c.(634-636)Cgc>Tgc p.R212C RADIL_ENST00000536091.1_Missense_Mutation_p.R212C|RADIL_ENST00000538469.1_5'UTR NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 212.0 multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446) microtubule (GO:0005874) NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41.0 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) ACTGTGCGGCGCAACCGGGGT 0.736 0 12.0 19.0 17.0 7 4876138.0 2069.0 4177.0 6246.0 SO:0001583 missense AB058752 CCDS43544.1 7p22.1 2010-08-27 ENSG00000157927 ENSG00000157927 55698.0 55698.0 22226.0 protein-coding gene gene with protein product 611491.0 16051602, 17704304 Standard NM_018059 NM_018059 Approved FLJ10324, KIAA1849, RASIP2 uc003snj.1 Q96JH8 OTTHUMG00000151753 ENST00000399583.3:c.634C>T 7.__UNKNOWN__:g.4876138G>A ENSP00000382492:p.Arg212Cys A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4 __UNKNOWN__ CCDS43544.1 . . . . . . . . . . G 14.83 2.653151 0.47362 . . ENSG00000157927 ENST00000399583;ENST00000316919;ENST00000536091 T;T 0.25912 3.16;1.77 4.57 4.57 0.56435 . 0.123718 0.56097 D 0.000037 T 0.40862 0.1134 M 0.66506 2.035 0.49389 D 0.99978 D 0.89917 1.0 P 0.59221 0.854 T 0.17715 -1.0360 10 0.38643 T 0.18 -38.9538 10.2857 0.43566 0.0962:0.0:0.9038:0.0 . 212 Q96JH8 RADIL_HUMAN C 212;186;212 ENSP00000382492:R212C;ENSP00000442533:R212C ENSP00000320946:R186C R - 1 0 RADIL 4842664 1.000000 0.71417 0.996000 0.52242 0.507000 0.33981 3.964000 0.56780 2.100000 0.63781 0.462000 0.41574 CGC RADIL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000323769.2 - ENST00000399583.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WW-Normal-SM-5EMM7 TSPEAR 386677 broad.mit.edu 37 21 45959752 45959752 + Silent SNP G G A TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr21:45959752G>A ENST00000397916.1 - 3.0 258 TSPEAR_ENST00000323084.4_Intron|KRTAP10-1_ENST00000400375.1_Silent_p.P94P Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats sensory perception of sound (GO:0007605) cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420) 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) 37.0 cctgctggcagggggaggagg 0.662 0 41.0 47.0 45.0 21 45959752.0 2190.0 4281.0 6471.0 SO:0001627 intron_variant AJ487962 CCDS13712.1, CCDS74801.1 21q22.3 2012-10-30 2011-01-25 2011-01-25 ENSG00000175894 ENSG00000175894 54084.0 54084.0 1268.0 protein-coding gene gene with protein product 612920.0 """chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98""" C21orf29, DFNB98 12095917, 22678063 Standard NM_144991 NM_144991 Approved MGC11251, TSP-EAR uc002zfe.1 Q8WU66 OTTHUMG00000041215 ENST00000397916.1:c.100-5946C>T 21.__UNKNOWN__:g.45959752G>A __UNKNOWN__ TSPEAR-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000195865.1 - ENST00000397916.1 Intron SNP PCPG-TCGA-S7-A7WW-Normal-SM-5EMM7 PPEF2 5470 broad.mit.edu 37 4 76787341 76787341 + Splice_Site SNP C C T TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr4:76787341C>T ENST00000286719.7 - 15.0 2277 c.e15+1 NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601) cilium (GO:0005929)|cytoplasm (GO:0005737) calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50.0 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CACACCGTTACCTCGCGACTC 0.473 NSCLC(105;1359 1603 15961 44567 47947) 0 270.0 223.0 239.0 4 76787341.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AF023456 CCDS34013.1 4q21.1 2013-01-10 ENSG00000156194 ENSG00000156194 5470.0 5470.0 """Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing""" 9244.0 protein-coding gene gene with protein product """protein phosphatase 7, catalytic subunit, beta isozyme""" 602256.0 9326663, 12051765 Standard NM_006239 NM_006239 Approved PPP7CB uc003hix.3 O14830 OTTHUMG00000160915 ENST00000286719.7:c.1920+1G>A 4.__UNKNOWN__:g.76787341C>T O14831 __UNKNOWN__ CCDS34013.1 . . . . . . . . . . C 13.43 2.233695 0.39498 . . ENSG00000156194 ENST00000286719 . . . 4.67 4.67 0.58626 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 15.1297 0.72514 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . PPEF2 77006365 1.000000 0.71417 0.974000 0.42286 0.213000 0.24496 6.527000 0.73803 2.421000 0.82119 0.491000 0.48974 . PPEF2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000362929.1 Intron - ENST00000286719.7 Splice_Site SNP PCPG-TCGA-S7-A7WW-Normal-SM-5EMM7 BARHL2 343472 broad.mit.edu 37 1 91180275 91180275 + Missense_Mutation SNP G G A TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr1:91180275G>A ENST00000370445.4 - 2.0 705 c.664C>T c.(664-666)Cgt>Tgt p.R222C NM_020063.1 NP_064447.1 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 222.0 cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516) cytoplasm (GO:0005737)|nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565) cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24.0 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) GGACTCTCACGGCTACTCGTA 0.542 GBM(199;3561 4100 22440) 0 140.0 140.0 140.0 1 91180275.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ251753 CCDS730.1 1p22.2 2011-07-08 2007-07-09 ENSG00000143032 ENSG00000143032 343472.0 343472.0 """Homeoboxes / ANTP class : NKL subclass""" 954.0 protein-coding gene gene with protein product 605212.0 """BarH (Drosophila)-like 2""" Standard NM_020063 Approved uc001dns.3 Q9NY43 OTTHUMG00000010020 ENST00000370445.4:c.664C>T 1.__UNKNOWN__:g.91180275G>A ENSP00000359474:p.Arg222Cys A0AVP2|Q7Z4N7 __UNKNOWN__ CCDS730.1 . . . . . . . . . . G 15.77 2.932069 0.52866 . . ENSG00000143032 ENST00000370445 D 0.91295 -2.82 5.1 3.08 0.35506 Homeodomain-related (1); 0.056398 0.64402 D 0.000002 D 0.89227 0.6655 L 0.32530 0.975 0.80722 D 1 D 0.89917 1.0 D 0.75020 0.985 D 0.90003 0.4116 10 0.59425 D 0.04 . 12.4014 0.55414 0.0:0.0:0.6953:0.3047 . 222 Q9NY43 BARH2_HUMAN C 222 ENSP00000359474:R222C ENSP00000359474:R222C R - 1 0 BARHL2 90952863 1.000000 0.71417 0.997000 0.53966 0.979000 0.70002 4.594000 0.61041 1.112000 0.41740 0.655000 0.94253 CGT BARHL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000027728.2 - ENST00000370445.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WW-Normal-SM-5EMM7 TYW1 55253 broad.mit.edu 37 7 66474575 66474575 + Silent SNP C C T TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr7:66474575C>T ENST00000359626.5 + 4.0 443 c.279C>T c.(277-279)ttC>ttT p.F93F NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 93.0 Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}. tRNA processing (GO:0008033) cytoplasm (GO:0005737)|nucleus (GO:0005634) 4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491) breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46.0 Lung NSC(55;0.0846)|all_lung(88;0.183) ATTAGGGATTCGCAACAGTTC 0.398 0 134.0 119.0 124.0 7 66474575.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK001762 CCDS5538.1 7q11.21 2007-11-29 2007-11-29 2007-11-29 ENSG00000198874 ENSG00000198874 55253.0 55253.0 25598.0 protein-coding gene gene with protein product """tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)""" 611243.0 """radical S-adenosyl methionine and flavodoxin domains 1""" RSAFD1 16162496, 17150819 Standard NM_018264 NM_018264 Approved FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A uc003tvn.4 Q9NV66 OTTHUMG00000129723 ENST00000359626.5:c.279C>T 7.__UNKNOWN__:g.66474575C>T Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4 __UNKNOWN__ CCDS5538.1 TYW1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251932.2 + ENST00000359626.5 Silent SNP PCPG-TCGA-S7-A7WW-Normal-SM-5EMM7 ADAMTS20 80070 broad.mit.edu 37 12 43886328 43886328 + Silent SNP G G A TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr12:43886328G>A ENST00000389420.3 - 6.0 1055 c.1056C>T c.(1054-1056)gaC>gaT p.D352D ADAMTS20_ENST00000553158.1_Silent_p.D352D NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 352.0 Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}. extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967) extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) 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) 95.0 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) GAACAGCAGTGTCATGGTGGG 0.383 0 171.0 141.0 151.0 12 43886328.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF488804 CCDS31778.2 12q12 2005-08-19 2005-08-19 ENSG00000173157 80070.0 80070.0 """ADAM metallopeptidases with thrombospondin type 1 motif""" 17178.0 protein-coding gene gene with protein product 611681.0 """a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20""" 12514189, 12562771 Standard NM_025003 NM_025003 Approved GON-1 uc010skx.2 P59510 ENST00000389420.3:c.1056C>T 12.__UNKNOWN__:g.43886328G>A A6NNC9|J3QT00 __UNKNOWN__ CCDS31778.2 ADAMTS20-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403643.1 - ENST00000389420.3 Silent SNP PCPG-TCGA-S7-A7WW-Normal-SM-5EMM7 MSR1 0 broad.mit.edu 37 8 15977990 15977990 + Missense_Mutation SNP C C T TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr8:15977990C>T ENST00000445506.2 - 9.0 1276 c.1213G>A c.(1213-1215)Gtc>Atc p.V405I MSR1_ENST00000350896.3_Intron|MSR1_ENST00000355282.2_Intron|MSR1_ENST00000262101.5_Missense_Mutation_p.V387I P21757 MSRE_HUMAN macrophage scavenger receptor 1 387.0 SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}. cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898) collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886) low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044) haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37.0 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CTCCTACAGACGACCTGTCCA 0.542 0 126.0 122.0 123.0 8 15977990.0 2203.0 4300.0 6503.0 SO:0001583 missense D13263 CCDS5995.1, CCDS5996.1, CCDS5997.1 8p22 2006-02-22 ENSG00000038945 ENSG00000038945 4481.0 """CD molecules""" 7376.0 protein-coding gene gene with protein product 153622.0 2251254 Standard NM_138715 Approved SCARA1, CD204 uc003wwz.3 P21757 OTTHUMG00000094809 ENST00000445506.2:c.1213G>A 8.__UNKNOWN__:g.15977990C>T ENSP00000405453:p.Val405Ile D3DSP3|O60505|P21759|Q45F10 __UNKNOWN__ . . . . . . . . . . C 5.995 0.367452 0.11352 . . ENSG00000038945 ENST00000262101;ENST00000445506 T;T 0.39229 1.09;1.09 4.84 -6.85 0.01681 Speract/scavenger receptor (4);Speract/scavenger receptor-related (2); 1.358560 0.05248 N 0.513391 T 0.41766 0.1173 L 0.46670 1.46 0.80722 D 1 B;B 0.22909 0.077;0.032 B;B 0.14578 0.011;0.011 T 0.44982 -0.9292 10 0.45353 T 0.12 . 24.1307 0.99988 0.0:0.8754:0.0:0.1246 . 405;387 B4DDJ5;P21757 .;MSRE_HUMAN I 387;405 ENSP00000262101:V387I;ENSP00000405453:V405I ENSP00000262101:V387I V - 1 0 MSR1 16022361 0.142000 0.22610 0.015000 0.15790 0.032000 0.12392 0.560000 0.23500 -1.873000 0.01135 -1.934000 0.00508 GTC MSR1-004 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000375985.1 - ENST00000445506.2 Missense_Mutation SNP PCPG-TCGA-S7-A7WW-Normal-SM-5EMM7 HERC1 8925 broad.mit.edu 37 15 64005579 64005579 + Missense_Mutation SNP G G A TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr15:64005579G>A ENST00000443617.2 - 23.0 4523 c.4436C>T c.(4435-4437)gCc>gTc p.A1479V 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 1479.0 cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) 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) 132.0 CCCTTCAGAGGCACTTGTTGA 0.448 0 71.0 72.0 72.0 15 64005579.0 2009.0 4162.0 6171.0 SO:0001583 missense U50078 CCDS45277.1 15q22 2013-01-10 2012-02-23 ENSG00000103657 8925.0 8925.0 """WD repeat domain containing""" 4867.0 protein-coding gene gene with protein product 605109.0 """hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1""" 8861955, 9233772 Standard NM_003922 NM_003922 Approved p532, p619 uc002amp.3 Q15751 ENST00000443617.2:c.4436C>T 15.__UNKNOWN__:g.64005579G>A ENSP00000390158:p.Ala1479Val Q8IW65 __UNKNOWN__ CCDS45277.1 . . . . . . . . . . G 16.89 3.247139 0.59103 . . ENSG00000103657 ENST00000443617;ENST00000425434 T 0.23950 1.88 5.34 5.34 0.76211 . 0.472681 0.21560 N 0.072582 T 0.18045 0.0433 N 0.08118 0 0.39219 D 0.963469 B;B 0.11235 0.004;0.002 B;B 0.14023 0.01;0.007 T 0.10636 -1.0621 10 0.66056 D 0.02 . 19.419 0.94713 0.0:0.0:1.0:0.0 . 463;1479 B4DKS2;Q15751 .;HERC1_HUMAN V 1479;463 ENSP00000390158:A1479V ENSP00000389613:A463V A - 2 0 HERC1 61792632 1.000000 0.71417 0.948000 0.38648 0.997000 0.91878 6.128000 0.71650 2.658000 0.90341 0.655000 0.94253 GCC HERC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000418523.1 - ENST00000443617.2 Missense_Mutation SNP PCPG-TCGA-S7-A7WW-Normal-SM-5EMM7 FREM2 341640 ucsc.edu 37 13 39264304 39264304 + Silent SNP C C T rs150154438 byFrequency TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr13:39264304C>T ENST00000280481.7 + 1.0 3039 c.2823C>T c.(2821-2823)ccC>ccT p.P941P NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 941.0 cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009) basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) 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) 148.0 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) ATGAAGTGCCCATACTGAGCC 0.488 0 C 12,4394 19.1+/-41.9 0,12,2191 68.0 59.0 62.0 2823 2.9 0.0 13 dbSNP_134 62.0 0,8600 0,0,4300 no coding-synonymous FREM2 NM_207361.4 0,12,6491 TT,TC,CC 0.0,0.2724,0.0923 941/3170 39264304.0 12,12994 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BX538150 CCDS31960.1 13q13.3 2004-12-15 ENSG00000150893 ENSG00000150893 341640.0 341640.0 25396.0 protein-coding gene gene with protein product 608945 15345741 Standard NM_207361 NM_207361 Approved DKFZp686J0811 uc001uwv.3 Q5SZK8 OTTHUMG00000016759 ENST00000280481.7:c.2823C>T 13.__UNKNOWN__:g.39264304C>T Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341 __UNKNOWN__ CCDS31960.1 FREM2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044599.2 + ENST00000280481.7 Silent SNP PCPG-TCGA-S7-A7WW-Normal-SM-5EMM7 SAFB2 9667 ucsc.edu 37 19 5592880 5592880 + Missense_Mutation SNP C C A TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr19:5592880C>A ENST00000252542.4 - 16.0 2490 c.2226G>T c.(2224-2226)tgG>tgT p.W742C NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 742.0 Arg-rich.|Interacts with SAFB1. regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29.0 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) TTCCTTCTGGCCAATAGGCAT 0.502 Ovarian(127;888 1728 23957 44128 52668) 0 122.0 96.0 105.0 19 5592880.0 2203.0 4300.0 6503.0 SO:0001583 missense D50928 CCDS32879.1 19p13.3 2013-02-12 ENSG00000130254 9667.0 9667.0 """RNA binding motif (RRM) containing""" 21605.0 protein-coding gene gene with protein product 608066 12660241 Standard NM_014649 NM_014649 Approved KIAA0138 uc002mcd.3 Q14151 ENST00000252542.4:c.2226G>T 19.__UNKNOWN__:g.5592880C>A ENSP00000252542:p.Trp742Cys B4DKG3|Q8TB13 __UNKNOWN__ CCDS32879.1 . . . . . . . . . . C 16.59 3.165825 0.57476 . . ENSG00000130254 ENST00000252542 T 0.13538 2.58 4.88 4.88 0.63580 . 0.000000 0.52532 D 0.000076 T 0.38321 0.1036 M 0.73962 2.25 0.80722 D 1 D 0.89917 1.0 D 0.67231 0.95 T 0.29852 -0.9998 10 0.66056 D 0.02 -18.9199 18.0438 0.89326 0.0:1.0:0.0:0.0 . 742 Q14151 SAFB2_HUMAN C 742 ENSP00000252542:W742C ENSP00000252542:W742C W - 3 0 SAFB2 5543880 1.000000 0.71417 0.966000 0.40874 0.601000 0.36947 4.988000 0.63863 2.248000 0.74166 0.561000 0.74099 TGG SAFB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451016.1 - ENST00000252542.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WW-Normal-SM-5EMM7 SYPL2 284612 hgsc.bcm.edu 37 1 110022033 110022033 + Missense_Mutation SNP G G A TCGA-S7-A7WW-01A-11D-A35I-08 TCGA-S7-A7WW-10B-01D-A35G-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 81370641-1947-468a-8a05-58c3dbcdd5ea 1c34dd2e-1a09-41bf-819d-62bc7956e879 g.chr1:110022033G>A ENST00000369872.3 + 6.0 898 c.682G>A c.(682-684)Ggg>Agg p.G228R SYPL2_ENST00000401021.3_Missense_Mutation_p.G164R NM_001040709.1 NP_001035799.1 Q5VXT5 SYPL2_HUMAN synaptophysin-like 2 228.0 MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}. cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762) integral component of synaptic vesicle membrane (GO:0030285) transporter activity (GO:0005215) breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 16.0 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) CCTGTGGGCCGGGAACTGTTG 0.582 0 139.0 143.0 142.0 1 110022033.0 1913.0 4151.0 6064.0 SO:0001583 missense AK131459 CCDS41365.1 1p13.3 2008-02-05 ENSG00000143028 ENSG00000143028 284612.0 284612.0 27638.0 protein-coding gene gene with protein product """mitsugumin-29""" 12975309 Standard NM_001006603 NM_001040709 Approved Mg29 uc001dxp.3 Q5VXT5 OTTHUMG00000010969 ENST00000369872.3:c.682G>A 1.__UNKNOWN__:g.110022033G>A ENSP00000358888:p.Gly228Arg A8K0E8|A8KAL7|I0IT67|Q6ZMX1 __UNKNOWN__ CCDS41365.1 . . . . . . . . . . G 17.76 3.469174 0.63625 . . ENSG00000143028 ENST00000401021;ENST00000369872 T 0.28069 1.63 5.29 5.29 0.74685 Marvel (1);MARVEL-like domain (1); 0.102834 0.64402 D 0.000003 T 0.49592 0.1566 M 0.75777 2.31 0.32147 N 0.584747 D;D 0.89917 1.0;1.0 D;D 0.83275 0.989;0.996 T 0.52208 -0.8606 10 0.87932 D 0 -17.3586 17.8742 0.88819 0.0:0.0:1.0:0.0 . 164;228 B4DYR7;Q5VXT5 .;SYPL2_HUMAN R 164;228 ENSP00000358888:G228R ENSP00000358888:G228R G + 1 0 SYPL2 109823556 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 6.586000 0.74067 2.752000 0.94435 0.655000 0.94253 GGG SYPL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000030191.1 + ENST00000369872.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WW-Normal-SM-5EMM7 PIGW 284098 broad.mit.edu 37 17 34894046 34894046 + Nonsense_Mutation SNP C C T TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr17:34894046C>T ENST00000592983.1 + 2.0 1676 c.1096C>T c.(1096-1098)Cga>Tga p.R366* MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Nonsense_Mutation_p.R366* Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan anchor biosynthesis, class W 366.0 C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) transferase activity, transferring acyl groups (GO:0016746) breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13.0 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGCAGTATCTCGAAGAATGGC 0.343 0 72.0 70.0 71.0 17 34894046.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AB097818 CCDS11313.1 17q21.1 2014-05-06 2006-06-28 ENSG00000184886 ENSG00000277161 284098.0 284098.0 """Phosphatidylinositol glycan anchor biosynthesis""" 23213.0 protein-coding gene gene with protein product 610275.0 """phosphatidylinositol glycan, class W""" 14517336, 12714589 Standard NM_178517 XM_005257238 Approved Gwt1, FLJ37433 uc002hmz.1 Q7Z7B1 OTTHUMG00000188438 ENST00000592983.1:c.1096C>T 17.__UNKNOWN__:g.34894046C>T ENSP00000468778:p.Arg366* Q8N9G3 __UNKNOWN__ CCDS11313.1 . . . . . . . . . . C 29.6 5.017153 0.93404 . . ENSG00000184886 ENST00000328396 . . . 5.79 2.5 0.30297 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . . . . -4.2047 14.1629 0.65457 0.417:0.583:0.0:0.0 . . . . X 366 . . R + 1 2 PIGW 31968159 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 3.569000 0.53827 0.719000 0.32188 0.561000 0.74099 CGA PIGW-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451318.1 + ENST00000592983.1 Nonsense_Mutation SNP PCPG-TCGA-S7-A7WX-Normal-SM-5EMLV P2RY1 5028 broad.mit.edu 37 3 152554691 152554691 + Nonstop_Mutation SNP T T A TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr3:152554691T>A ENST00000305097.3 + 1.0 1956 c.1120T>A c.(1120-1122)Tga>Aga p.*374R NM_002563.3 NP_002554.1 P47900 P2RY1_HUMAN purinergic receptor P2Y, G-protein coupled, 1 0.0 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110) breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23.0 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) TACAAGCCTGTGAAGGCACAA 0.383 0 32.0 33.0 33.0 3 152554691.0 2139.0 4096.0 6235.0 SO:0001578 stop_lost U42029 CCDS3169.1 3q25.2 2012-08-08 ENSG00000169860 ENSG00000169860 5028.0 5028.0 """Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y""" 8539.0 protein-coding gene gene with protein product 601167.0 8579591 Standard NM_002563 NM_002563 Approved P2Y1 uc003ezq.3 P47900 OTTHUMG00000159694 ENST00000305097.3:c.1120T>A 3.__UNKNOWN__:g.152554691T>A ENSP00000304767:p.*374Argext*31 __UNKNOWN__ CCDS3169.1 . . . . . . . . . . T 14.85 2.658031 0.47467 . . ENSG00000169860 ENST00000305097 . . . 5.46 5.46 0.80206 . . . . . . . . . . . 0.09310 N 1 . . . . . . . . . . . . . . 14.7248 0.69336 0.0:0.0:0.0:1.0 . . . . R 374 . . X + 1 0 P2RY1 154037381 1.000000 0.71417 1.000000 0.80357 0.918000 0.54935 7.360000 0.79487 2.067000 0.61834 0.455000 0.32223 TGA P2RY1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356943.1 + ENST00000305097.3 Nonstop_Mutation SNP PCPG-TCGA-S7-A7WX-Normal-SM-5EMLV AXL 558 broad.mit.edu 37 19 41749573 41749573 + Missense_Mutation SNP G G A rs144824336 TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr19:41749573G>A ENST00000301178.4 + 12.0 1688 c.1498G>A c.(1498-1500)Gtg>Atg p.V500M AXL_ENST00000593513.1_Missense_Mutation_p.V232M|AXL_ENST00000359092.3_Missense_Mutation_p.V491M NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase 500.0 apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068) cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) 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) 48.0 CAGGTACCGCGTGCGCAAGTC 0.557 0 G MET/VAL,MET/VAL 0,4406 0,0,2203 173.0 150.0 158.0 1471,1498 3.9 0.9 19 dbSNP_134 158.0 1,8599 1.2+/-3.3 0,1,4299 no missense,missense AXL NM_001699.4,NM_021913.3 21,21 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 possibly-damaging,possibly-damaging 491/886,500/895 41749573.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense M76125 CCDS12574.1, CCDS12575.1, CCDS62677.1 19q13.1 2013-02-11 ENSG00000167601 558.0 558.0 2.7.10.1 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 905.0 protein-coding gene gene with protein product 109135.0 1656220 Standard NM_021913 Approved UFO, JTK11 uc010ehj.3 P30530 ENST00000301178.4:c.1498G>A 19.__UNKNOWN__:g.41749573G>A ENSP00000301178:p.Val500Met Q8N5L2|Q9UD27 __UNKNOWN__ CCDS12575.1 . . . . . . . . . . g 23.6 4.431393 0.83776 0.0 1.16E-4 ENSG00000167601 ENST00000301178;ENST00000359092 T;T 0.75704 -0.96;-0.92 3.9 3.9 0.45041 . 0.228534 0.36101 N 0.002798 T 0.71813 0.3384 L 0.29908 0.895 0.36575 D 0.873207 D;D 0.62365 0.991;0.985 P;P 0.51516 0.672;0.472 T 0.80759 -0.1239 10 0.87932 D 0 -9.7724 15.2126 0.73238 0.0:0.0:1.0:0.0 . 491;500 P30530-2;P30530 .;UFO_HUMAN M 500;491 ENSP00000301178:V500M;ENSP00000351995:V491M ENSP00000301178:V500M V + 1 0 AXL 46441413 1.000000 0.71417 0.851000 0.33527 0.981000 0.71138 6.173000 0.71937 2.177000 0.69029 0.549000 0.68633 GTG AXL-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000463323.2 + ENST00000301178.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WX-Normal-SM-5EMLV PRPH2 5961 broad.mit.edu 37 6 42689799 42689799 + Missense_Mutation SNP C C T TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr6:42689799C>T ENST00000230381.5 - 1.0 513 c.274G>A c.(274-276)Gcc>Acc p.A92T NM_000322.4 NP_000313.2 P23942 PRPH2_HUMAN peripherin 2 (retinal degeneration, slow) 92.0 cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601) integral component of membrane (GO:0016021) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 18.0 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) TTCCATCTGGCATACTTGGCT 0.547 0 68.0 61.0 63.0 6 42689799.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS4871.1 6p21.1 2013-09-20 2006-11-23 2006-11-23 ENSG00000112619 ENSG00000112619 5961.0 5961.0 """Tetraspanins""" 9942.0 protein-coding gene gene with protein product retinal peripherin 179605.0 """retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow""" RP7, RDS 1749427 Standard NM_000322 NM_000322 Approved TSPAN22, rd2, CACD2 uc003osk.3 P23942 OTTHUMG00000014701 ENST00000230381.5:c.274G>A 6.__UNKNOWN__:g.42689799C>T ENSP00000230381:p.Ala92Thr Q5TFH5|Q6DK65 __UNKNOWN__ CCDS4871.1 . . . . . . . . . . C 10.88 1.475095 0.26511 . . ENSG00000112619 ENST00000230381 T 0.79033 -1.23 5.81 1.89 0.25635 . 0.387488 0.30969 N 0.008513 T 0.45994 0.1370 L 0.35723 1.085 0.40401 D 0.979643 B 0.18013 0.025 B 0.22152 0.038 T 0.32295 -0.9912 10 0.14656 T 0.56 . 8.1434 0.31097 0.1139:0.6948:0.0:0.1914 . 92 P23942 PRPH2_HUMAN T 92 ENSP00000230381:A92T ENSP00000230381:A92T A - 1 0 PRPH2 42797777 0.608000 0.26966 0.933000 0.37362 0.845000 0.48019 1.154000 0.31688 0.805000 0.34159 -0.140000 0.14226 GCC PRPH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040556.1 - ENST00000230381.5 Missense_Mutation SNP PCPG-TCGA-S7-A7WX-Normal-SM-5EMLV MICAL2 9645 broad.mit.edu 37 11 12243220 12243220 + Silent SNP C C T TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr11:12243220C>T ENST00000256194.4 + 10.0 1524 c.1236C>T c.(1234-1236)gcC>gcT p.A412A MICAL2_ENST00000379612.3_Silent_p.A412A|MICAL2_ENST00000342902.5_Silent_p.A412A|MICAL2_ENST00000527546.1_Silent_p.A412A|MICAL2_ENST00000537344.1_Silent_p.A412A NM_001282663.1|NM_014632.2 NP_001269592.1|NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 412.0 Monooxygenase domain. {ECO:0000250}. actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417) nucleus (GO:0005634) actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270) 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) 47.0 Epithelial(150;0.00552) CAGGCTGTGCCCGTGGCTTCC 0.547 0 123.0 111.0 115.0 11 12243220.0 2201.0 4294.0 6495.0 SO:0001819 synonymous_variant AB018293 CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1 11p15.3 2014-08-12 2013-03-26 ENSG00000133816 ENSG00000133816 9645.0 9645.0 24693.0 protein-coding gene gene with protein product 608881.0 12110185 Standard NM_014632 XM_005253249 Approved KIAA0750 uc001mjz.3 O94851 OTTHUMG00000165744 ENST00000256194.4:c.1236C>T 11.__UNKNOWN__:g.12243220C>T B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8 __UNKNOWN__ CCDS7809.1 MICAL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385993.1 + ENST00000256194.4 Silent SNP PCPG-TCGA-S7-A7WX-Normal-SM-5EMLV KCND2 3751 broad.mit.edu 37 7 119914730 119914730 + Missense_Mutation SNP C C T TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr7:119914730C>T ENST00000331113.4 + 1.0 1009 c.44C>T c.(43-45)gCg>gTg p.A15V NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 15.0 Interaction with KCNIP2. action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268) dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249) 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) 75.0 all_neural(327;0.117) Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458) GCAAGGGCAGCGGCTATCGGG 0.602 0 78.0 93.0 88.0 7 119914730.0 2199.0 4300.0 6499.0 SO:0001583 missense AJ010969 CCDS5776.1 7q31 2012-07-05 ENSG00000184408 ENSG00000184408 3751.0 3751.0 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels""" 6238.0 protein-coding gene gene with protein product 605410.0 10551270, 16382104 Standard NM_012281 NM_012281 Approved Kv4.2, RK5, KIAA1044 uc003vjj.1 Q9NZV8 OTTHUMG00000156989 ENST00000331113.4:c.44C>T 7.__UNKNOWN__:g.119914730C>T ENSP00000333496:p.Ala15Val O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9 __UNKNOWN__ CCDS5776.1 . . . . . . . . . . C 29.1 4.973435 0.92919 . . ENSG00000184408 ENST00000331113 D 0.97731 -4.51 5.51 5.51 0.81932 Shal-type voltage-gated potassium channels (1); 0.000000 0.85682 D 0.000000 D 0.98764 0.9584 M 0.83223 2.63 0.80722 D 1 D 0.89917 1.0 D 0.77004 0.989 D 0.99211 1.0876 9 . . . . 19.427 0.94746 0.0:1.0:0.0:0.0 . 15 Q9NZV8 KCND2_HUMAN V 15 ENSP00000333496:A15V . A + 2 0 KCND2 119701966 1.000000 0.71417 0.807000 0.32361 0.971000 0.66376 6.051000 0.71072 2.603000 0.88011 0.655000 0.94253 GCG KCND2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346996.1 + ENST00000331113.4 Missense_Mutation SNP PCPG-TCGA-S7-A7WX-Normal-SM-5EMLV NPC1L1 29881 broad.mit.edu 37 7 44560645 44560645 + Missense_Mutation SNP T T C TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr7:44560645T>C ENST00000381160.3 - 13.0 3081 c.3026A>G c.(3025-3027)cAt>cGt p.H1009R NPC1L1_ENST00000289547.4_Missense_Mutation_p.H1009R|NPC1L1_ENST00000546276.1_Missense_Mutation_p.H963R NM_001101648.1 NP_001095118.1 Q9UHC9 NPCL1_HUMAN NPC1-like 1 1009.0 cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918) brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137) 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) 57.0 Ezetimibe(DB00973) AAGATACTTATGGAACTGCTC 0.557 0 156.0 158.0 157.0 7 44560645.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS5491.1, CCDS43575.1, CCDS75587.1 7p13 2012-11-15 2012-11-15 ENSG00000015520 ENSG00000015520 29881.0 29881.0 7898.0 protein-coding gene gene with protein product 608010.0 """NPC1 (Niemann-Pick disease, type C1, gene)-like 1""" 10783261 Standard NM_013389 NM_013389 Approved uc003tlb.3 Q9UHC9 OTTHUMG00000023691 ENST00000381160.3:c.3026A>G 7.__UNKNOWN__:g.44560645T>C ENSP00000370552:p.His1009Arg A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8 __UNKNOWN__ CCDS43575.1 . . . . . . . . . . T 9.444 1.088708 0.20390 . . ENSG00000015520 ENST00000289547;ENST00000381160;ENST00000546276 D;D;D 0.92647 -2.98;-2.97;-3.08 5.26 4.1 0.47936 . 0.331962 0.29233 N 0.012751 D 0.83663 0.5303 N 0.20328 0.56 0.26848 N 0.968223 B;B;B;B 0.22480 0.006;0.001;0.034;0.07 B;B;B;B 0.23018 0.001;0.0;0.031;0.043 T 0.69964 -0.5002 10 0.22109 T 0.4 -16.3602 9.2648 0.37634 0.0:0.0869:0.0:0.9131 . 963;1009;1009;1009 B7ZLE6;Q17RV5;D3DVK9;Q9UHC9 .;.;.;NPCL1_HUMAN R 1009;1009;963 ENSP00000289547:H1009R;ENSP00000370552:H1009R;ENSP00000438033:H963R ENSP00000289547:H1009R H - 2 0 NPC1L1 44527170 1.000000 0.71417 0.996000 0.52242 0.694000 0.40290 3.408000 0.52651 0.845000 0.35118 0.477000 0.44152 CAT NPC1L1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000339390.1 - ENST00000381160.3 Missense_Mutation SNP PCPG-TCGA-S7-A7WX-Normal-SM-5EMLV NAP1L2 4674 broad.mit.edu 37 X 72433372 72433372 + Silent SNP G G C TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chrX:72433372G>C ENST00000373517.3 - 1.0 1312 c.957C>G c.(955-957)ccC>ccG p.P319P NAP1L2_ENST00000536638.1_Silent_p.P177P NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 319.0 nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035) nucleus (GO:0005634) chromatin binding (GO:0003682) NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29.0 Renal(35;0.156) TTCCCCTATAGGGATGGGGAT 0.378 0 112.0 104.0 107.0 X 72433372.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant AF136178 CCDS14423.1 Xq13 2008-02-05 ENSG00000186462 ENSG00000186462 4674.0 4674.0 7638.0 protein-coding gene gene with protein product 300026.0 8789438 Standard NM_021963 NM_021963 Approved BPX, MGC26243 uc004ebi.3 Q9ULW6 OTTHUMG00000021827 ENST00000373517.3:c.957C>G X.__UNKNOWN__:g.72433372G>C B2RE61|B4E161|Q8TAN6 __UNKNOWN__ CCDS14423.1 NAP1L2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057225.1 - ENST00000373517.3 Silent SNP PCPG-TCGA-S7-A7WX-Normal-SM-5EMLV LAMA5 3911 broad.mit.edu 37 20 60886280 60886280 + Silent SNP C C T TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr20:60886280C>T ENST00000252999.3 - 73.0 10092 c.10026G>A c.(10024-10026)caG>caA p.Q3342Q NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3342.0 Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}. angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634) integrin binding (GO:0005178)|structural molecule activity (GO:0005198) 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) 81.0 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) AACCCCCAAACTGGTAGGAGT 0.687 0 54.0 52.0 53.0 20 60886280.0 2198.0 4296.0 6494.0 SO:0001819 synonymous_variant AF443072 CCDS33502.1 20q13.2-q13.3 2013-03-01 ENSG00000130702 ENSG00000130702 3911.0 3911.0 """Laminins""" 6485.0 protein-coding gene gene with protein product 601033.0 9271224 Standard NM_005560 NM_005560 Approved uc002ycq.3 O15230 OTTHUMG00000032908 ENST00000252999.3:c.10026G>A 20.__UNKNOWN__:g.60886280C>T Q8TDF8|Q8WZA7|Q9H1P1 __UNKNOWN__ CCDS33502.1 LAMA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080014.2 - ENST00000252999.3 Silent SNP PCPG-TCGA-S7-A7WX-Normal-SM-5EMLV SH3GL3 6457 ucsc.edu 37 15 84228013 84228013 + Missense_Mutation SNP T T A TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr15:84228013T>A ENST00000427482.2 + 2.0 360 c.54T>A c.(52-54)agT>agA p.S18R SH3GL3_ENST00000324537.5_Missense_Mutation_p.S26R|SH3GL3_ENST00000535412.1_Missense_Mutation_p.S18R|SH3GL3_ENST00000434347.1_Missense_Mutation_p.S26R NM_003027.3 NP_003018.3 Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 18.0 BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Membrane-binding amphipathic helix. {ECO:0000250}. central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) identical protein binding (GO:0042802)|lipid binding (GO:0008289) central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30.0 AGCTATTTAGTGAAAAAATAA 0.279 0 70.0 71.0 70.0 15 84228013.0 2203.0 4298.0 6501.0 SO:0001583 missense AF036271 CCDS10325.2, CCDS73772.1 15q24 2006-11-24 ENSG00000140600 ENSG00000140600 6457.0 6457.0 10832.0 protein-coding gene gene with protein product 603362 9169142 Standard NM_003027 NR_026799 Approved SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371 uc002bjw.3 Q99963 OTTHUMG00000147361 ENST00000427482.2:c.54T>A 15.__UNKNOWN__:g.84228013T>A ENSP00000391372:p.Ser18Arg O43553|O43554 __UNKNOWN__ CCDS10325.2 . . . . . . . . . . T 17.74 3.464502 0.63513 . . ENSG00000140600 ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347 T;T;T;T 0.31769 1.48;1.48;1.48;1.48 4.63 -0.699 0.11277 BAR (3); 0.145654 0.64402 N 0.000009 T 0.43100 0.1232 M 0.79475 2.455 0.58432 D 0.999997 B;P;P;D 0.61080 0.351;0.593;0.944;0.989 B;B;P;P 0.59948 0.11;0.135;0.789;0.866 T 0.26815 -1.0092 10 0.51188 T 0.08 -22.956 4.834 0.13454 0.0:0.2803:0.1527:0.567 . 18;18;18;26 Q8IVP1;Q99963-4;Q99963;Q99963-3 .;.;SH3G3_HUMAN;. R 18;18;26;26 ENSP00000391372:S18R;ENSP00000439239:S18R;ENSP00000320092:S26R;ENSP00000397871:S26R ENSP00000320092:S26R S + 3 2 SH3GL3 82019017 1.000000 0.71417 0.964000 0.40570 0.982000 0.71751 1.477000 0.35431 -0.306000 0.08818 0.460000 0.39030 AGT SH3GL3-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347797.1 + ENST00000427482.2 Missense_Mutation SNP PCPG-TCGA-S7-A7WX-Normal-SM-5EMLV KLK13 26085 hgsc.bcm.edu 37 19 51563772 51563772 + Missense_Mutation SNP G G C TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr19:51563772G>C ENST00000595793.1 - 2.0 199 c.157C>G c.(157-159)Cta>Gta p.L53V KLK13_ENST00000335422.3_Intron|KLK13_ENST00000596955.1_Missense_Mutation_p.L53V|KLK13_ENST00000595547.1_Missense_Mutation_p.L53V NM_015596.1 NP_056411.1 Q9UKR3 KLK13_HUMAN kallikrein-related peptidase 13 53.0 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. protein processing (GO:0016485)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141) hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 16.0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) TGCACTAGTAGGGCAGCCTGC 0.617 0 81.0 83.0 82.0 19 51563772.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS12822.1 19q13.33 2008-02-05 2006-10-27 ENSG00000167759 26085.0 26085.0 """Kallikreins""" 6361.0 protein-coding gene gene with protein product 605505 """kallikrein 13""" 16800724, 16800723 Standard NM_015596 NM_015596 Approved KLK-L4 uc002pvn.3 Q9UKR3 ENST00000595793.1:c.157C>G 19.__UNKNOWN__:g.51563772G>C ENSP00000470555:p.Leu53Val A7UNK6|Q86VI8|Q9Y433 __UNKNOWN__ CCDS12822.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. g|g 16.56|16.56 3.158207|3.158207 0.57368|0.57368 .|. .|. ENSG00000167759|ENSG00000167759 ENST00000156476|ENST00000376799 D|. 0.85258|. -1.96|. 3.88|3.88 2.84|2.84 0.33178|0.33178 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|. 0.000000|. 0.37012|. N|. 0.002291|. T|T 0.53094|0.53094 0.1775|0.1775 L|L 0.33245|0.33245 0.995|0.995 0.80722|0.80722 D|D 1|1 P;D;D|. 0.89917|. 0.952;1.0;1.0|. P;D;D|. 0.87578|. 0.768;0.998;0.998|. T|T 0.55418|0.55418 -0.8144|-0.8144 10|6 0.42905|0.87932 T|D 0.14|0 .|. 9.0841|9.0841 0.36570|0.36570 0.1122:0.0:0.8878:0.0|0.1122:0.0:0.8878:0.0 .|. 53;53;53|. Q86VI7;B5BUM9;Q9UKR3|. .;.;KLK13_HUMAN|. V|R 53|54 ENSP00000156476:L53V|. ENSP00000156476:L53V|ENSP00000365995:P54R L|P -|- 1|2 2|0 KLK13|KLK13 56255584|56255584 1.000000|1.000000 0.71417|0.71417 0.956000|0.956000 0.39512|0.39512 0.987000|0.987000 0.75469|0.75469 3.210000|3.210000 0.51129|0.51129 0.974000|0.974000 0.38366|0.38366 0.609000|0.609000 0.83330|0.83330 CTA|CCT KLK13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464298.2 - ENST00000595793.1 Missense_Mutation SNP PCPG-TCGA-S7-A7WX-Normal-SM-5EMLV SIRPG 55423 broad.mit.edu 37 20 1629815 1629815 + Missense_Mutation SNP G G A TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr20:1629815G>A ENST00000303415.3 - 2.0 377 c.313C>T c.(313-315)Cgc>Tgc p.R105C SIRPG_ENST00000344103.4_Missense_Mutation_p.R105C|SIRPG_ENST00000381580.1_Missense_Mutation_p.R72C|SIRPG_ENST00000381583.2_Missense_Mutation_p.R105C|SIRPG_ENST00000216927.4_Missense_Mutation_p.R105C NM_018556.3 NP_061026.2 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 105.0 Ig-like V-type. blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) p.R105S(1)|p.R105C(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27.0 CTACTGATGCGGATGGAAAAG 0.483 2 Substitution - Missense(2) large_intestine(1)|lung(1) 311.0 256.0 275.0 20 1629815.0 2203.0 4300.0 6503.0 SO:0001583 missense AB042624 CCDS13020.2, CCDS13021.2, CCDS33434.1 20p13 2013-01-11 2006-02-03 2006-02-03 ENSG00000089012 ENSG00000089012 55423.0 55423.0 """Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing""" 15757.0 protein-coding gene gene with protein product 605466.0 """signal-regulatory protein beta 2""" SIRPB2 11185750, 16339511 Standard NM_018556 XM_005260749 Approved bA77C3.1, SIRP-B2, SIRPgamma, CD172g uc002wfm.1 Q9P1W8 OTTHUMG00000031680 ENST00000303415.3:c.313C>T 20.__UNKNOWN__:g.1629815G>A ENSP00000305529:p.Arg105Cys B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8 __UNKNOWN__ CCDS13020.2 . . . . . . . . . . . 8.087 0.773762 0.16051 . . ENSG00000089012 ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927 T;T;T;T;T 0.67171 -0.25;-0.25;-0.25;-0.25;-0.25 1.93 1.93 0.25924 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.198861 0.36167 N 0.002741 T 0.56746 0.2006 M 0.70903 2.155 0.53005 D 0.999969 P;P;P 0.39480 0.565;0.56;0.675 B;B;B 0.31946 0.083;0.083;0.138 T 0.61098 -0.7131 10 0.54805 T 0.06 . 7.3585 0.26733 0.0:0.0:1.0:0.0 . 105;105;105 Q9P1W8-3;Q9P1W8-4;Q9P1W8 .;.;SIRPG_HUMAN C 72;105;105;105;105 ENSP00000370992:R72C;ENSP00000342759:R105C;ENSP00000305529:R105C;ENSP00000370995:R105C;ENSP00000216927:R105C ENSP00000216927:R105C R - 1 0 SIRPG 1577815 0.625000 0.27111 0.991000 0.47740 0.346000 0.29079 0.286000 0.18902 1.392000 0.46585 0.195000 0.17529 CGC SIRPG-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077566.2 - ENST00000303415.3 Missense_Mutation SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 ZNF845 91664 broad.mit.edu 37 19 53848849 53848849 + Missense_Mutation SNP G G T TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr19:53848849G>T ENST00000595091.1 + 4.0 325 c.106G>T c.(106-108)Gtg>Ttg p.V36L ZNF845_ENST00000458035.1_Missense_Mutation_p.V36L Q96IR2 ZN845_HUMAN zinc finger protein 845 36.0 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26.0 ATACAGGGACGTGATGCTGGA 0.473 0 72.0 75.0 74.0 19 53848849.0 692.0 1590.0 2282.0 SO:0001583 missense BC007307 CCDS46170.1 19q13.42 2013-01-08 ENSG00000213799 ENSG00000213799 91664.0 91664.0 """Zinc fingers, C2H2-type"", ""-""" 25112.0 protein-coding gene gene with protein product Standard XM_039908 NM_138374 Approved uc010ydv.1 Q96IR2 ENST00000595091.1:c.106G>T 19.__UNKNOWN__:g.53848849G>T ENSP00000470005:p.Val36Leu __UNKNOWN__ CCDS46170.1 . . . . . . . . . . G 13.44 2.238423 0.39598 . . ENSG00000213799 ENST00000458035;ENST00000359916;ENST00000427984 T 0.03801 3.8 1.85 1.85 0.25348 Krueppel-associated box (4); . . . . T 0.29620 0.0739 H 0.98466 4.24 0.22001 N 0.999425 D 0.56521 0.976 P 0.60068 0.868 T 0.17501 -1.0367 9 0.87932 D 0 . 9.4146 0.38514 0.0:0.0:1.0:0.0 . 36 Q96IR2 ZN845_HUMAN L 36 ENSP00000388311:V36L ENSP00000352990:V36L V + 1 0 ZNF845 58540661 0.998000 0.40836 0.821000 0.32701 0.219000 0.24729 4.546000 0.60705 1.048000 0.40298 0.134000 0.15878 GTG ZNF845-001 KNOWN upstream_uORF|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464359.1 + ENST00000595091.1 Missense_Mutation SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 CARD11 84433 broad.mit.edu 37 7 2968246 2968246 + Silent SNP G G A TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr7:2968246G>A ENST00000396946.4 - 13.0 2143 c.1740C>T c.(1738-1740)gaC>gaT p.D580D NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 580.0 Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061) cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385) 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) 150.0 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GATGGGGCGCGTCCTCCTTGT 0.657 Mis DLBCL Dom yes 7 7p22 84433.0 """caspase recruitment domain family, member 11""" L 0 84.0 71.0 76.0 7 2968246.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF322641 CCDS5336.2 7p22 2014-09-17 ENSG00000198286 ENSG00000198286 84433.0 84433.0 16393.0 protein-coding gene gene with protein product """card-maguk protein 1"", ""bcl10-interacting maguk protein 3""" 607210.0 11278692, 11356195 Standard NM_032415 NM_032415 Approved CARMA1, BIMP3 uc003smv.3 Q9BXL7 OTTHUMG00000023023 ENST00000396946.4:c.1740C>T 7.__UNKNOWN__:g.2968246G>A A4D1Z7|Q2NKN7|Q548H3 __UNKNOWN__ CCDS5336.2 CARD11-011 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000059344.4 - ENST00000396946.4 Silent SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 GPATCH8 23131 broad.mit.edu 37 17 42476155 42476155 + Missense_Mutation SNP A A C TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr17:42476155A>C ENST00000591680.1 - 8.0 3320 c.3290T>G c.(3289-3291)aTc>aGc p.I1097S GPATCH8_ENST00000434000.1_Missense_Mutation_p.I1019S NM_001002909.2 NP_001002909.1 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1097.0 metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50.0 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) CCTTGACTGGATCTTCTCCAG 0.532 0 148.0 119.0 129.0 17 42476155.0 2203.0 4300.0 6503.0 SO:0001583 missense AB011125 CCDS32666.1 17q21.31 2013-01-28 2006-08-22 2006-12-13 ENSG00000186566 ENSG00000186566 23131.0 23131.0 """G patch domain containing""" 29066.0 protein-coding gene gene with protein product 614396.0 """KIAA0553""" KIAA0553, GPATC8 9628581 Standard NM_001002909 NM_001002909 Approved uc002igw.2 Q9UKJ3 OTTHUMG00000181818 ENST00000591680.1:c.3290T>G 17.__UNKNOWN__:g.42476155A>C ENSP00000467556:p.Ile1097Ser B9EGP9|O60300|Q8TB99 __UNKNOWN__ CCDS32666.1 . . . . . . . . . . A 15.23 2.773126 0.49680 . . ENSG00000186566 ENST00000335500;ENST00000434000 T 0.13538 2.58 4.99 4.99 0.66335 . 0.119027 0.56097 D 0.000023 T 0.13841 0.0335 L 0.27053 0.805 0.53688 D 0.999972 D 0.54397 0.966 P 0.46479 0.518 T 0.03795 -1.1003 10 0.37606 T 0.19 -6.2699 14.8659 0.70416 1.0:0.0:0.0:0.0 . 1097 Q9UKJ3 GPTC8_HUMAN S 1097;1019 ENSP00000395016:I1019S ENSP00000335486:I1097S I - 2 0 GPATCH8 39831681 1.000000 0.71417 0.994000 0.49952 0.568000 0.35870 8.761000 0.91691 2.103000 0.63969 0.528000 0.53228 ATC GPATCH8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457797.1 - ENST00000591680.1 Missense_Mutation SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 IGHV3-43 0 broad.mit.edu 37 14 106926411 106926411 + RNA SNP G G A TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr14:106926411G>A ENST00000434710.1 - 0.0 210 immunoglobulin heavy variable 3-43 GGTGAATCCAGAGGCTGCACA 0.562 0 168.0 112.0 130.0 14 106926411.0 1939.0 4123.0 6062.0 M99672 14q32.33 2012-02-08 ENSG00000232216 ENSG00000232216 28426.0 28426.0 """Immunoglobulins / IGH locus""" 5604.0 other immunoglobulin gene Standard NG_001019 NG_001019 Approved OTTHUMG00000152094 ENST00000434710.1: 14.__UNKNOWN__:g.106926411G>A __UNKNOWN__ IGHV3-43-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene IG_V_gene OTTHUMT00000325191.1 - ENST00000434710.1 RNA SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 AKAP8L 26993 broad.mit.edu 37 19 15508364 15508364 + Missense_Mutation SNP G G A TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr19:15508364G>A ENST00000397410.5 - 11.0 1502 c.1372C>T c.(1372-1374)Cac>Tac p.H458Y AKAP8L_ENST00000595465.2_Missense_Mutation_p.H397Y|AKAP8L_ENST00000595879.1_5'UTR NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 458.0 H -> Q (in dbSNP:rs2058322). {ECO:0000269|PubMed:10748171, ECO:0000269|PubMed:10761695, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:19054851, ECO:0000269|PubMed:21269460, ECO:0000269|Ref.7}. cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634) DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11.0 TAGATTTGGTGGATGAGGCCA 0.527 0 134.0 132.0 132.0 19 15508364.0 1991.0 4160.0 6151.0 SO:0001583 missense BC000713 CCDS46005.1 19p13.12 2013-10-16 ENSG00000011243 ENSG00000011243 26993.0 26993.0 29857.0 protein-coding gene gene with protein product """neighbor of A kinase anchoring protein 95""" 609475.0 10748171, 10761695 Standard NM_014371 XM_005259854 Approved NAKAP95, HAP95 uc002naw.1 Q9ULX6 OTTHUMG00000182446 ENST00000397410.5:c.1372C>T 19.__UNKNOWN__:g.15508364G>A ENSP00000380557:p.His458Tyr B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0 __UNKNOWN__ CCDS46005.1 . . . . . . . . . . g 7.974 0.749790 0.15778 . . ENSG00000011243 ENST00000397410 T 0.42513 0.97 5.26 5.26 0.73747 . 0.157953 0.47852 D 0.000218 T 0.25865 0.0630 N 0.08118 0 0.19945 N 0.999949 B 0.02656 0.0 B 0.04013 0.001 T 0.11324 -1.0592 10 0.31617 T 0.26 -6.9986 16.3943 0.83563 0.0:0.0:1.0:0.0 . 458 Q9ULX6 AKP8L_HUMAN Y 458 ENSP00000380557:H458Y ENSP00000380557:H458Y H - 1 0 AKAP8L 15369364 1.000000 0.71417 1.000000 0.80357 0.959000 0.62525 5.062000 0.64326 2.462000 0.83206 0.556000 0.70494 CAC AKAP8L-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000461301.2 - ENST00000397410.5 Missense_Mutation SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 ZNF536 9745 broad.mit.edu 37 19 30935484 30935484 + Missense_Mutation SNP G G A TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr19:30935484G>A ENST00000355537.3 + 2.0 1162 c.1015G>A c.(1015-1017)Gag>Aag p.E339K NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 339.0 negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323) 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) 182.0 Esophageal squamous(110;0.0834) CGGCGGTGGCGAGCAGTCGGC 0.647 0 80.0 92.0 88.0 19 30935484.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS32984.1 19q13.11 2013-01-08 ENSG00000198597 9745.0 9745.0 """Zinc fingers, C2H2-type""" 29025.0 protein-coding gene gene with protein product 9205841 Standard NM_014717 XM_005259445 Approved KIAA0390 uc002nsu.1 O15090 ENST00000355537.3:c.1015G>A 19.__UNKNOWN__:g.30935484G>A ENSP00000347730:p.Glu339Lys A2RU18 __UNKNOWN__ CCDS32984.1 . . . . . . . . . . G 8.501 0.864336 0.17250 . . ENSG00000198597 ENST00000355537 T 0.09445 2.98 5.59 4.54 0.55810 . 0.206144 0.46145 D 0.000303 T 0.13798 0.0334 L 0.48986 1.54 0.35881 D 0.828948 P;D 0.60575 0.93;0.988 B;B 0.43301 0.178;0.415 T 0.17899 -1.0354 10 0.44086 T 0.13 -36.7615 15.9085 0.79450 0.0:0.0:0.8636:0.1364 . 339;339 A7E228;O15090 .;ZN536_HUMAN K 339 ENSP00000347730:E339K ENSP00000347730:E339K E + 1 0 ZNF536 35627324 1.000000 0.71417 0.894000 0.35097 0.202000 0.24057 5.522000 0.67092 1.344000 0.45657 0.491000 0.48974 GAG ZNF536-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459667.2 + ENST00000355537.3 Missense_Mutation SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 TMCC1 23023 broad.mit.edu 37 3 129389998 129389998 + Missense_Mutation SNP C C A TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr3:129389998C>A ENST00000432054.2 - 0.0 665 TMCC1_ENST00000393238.3_Missense_Mutation_p.R229L|TMCC1_ENST00000329333.5_Missense_Mutation_p.R50L|TMCC1_ENST00000426664.2_Missense_Mutation_p.R115L O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25.0 AGCCTTTGTGCGCTGAGGGTC 0.532 0 147.0 142.0 143.0 3 129389998.0 2203.0 4300.0 6503.0 SO:0001623 5_prime_UTR_variant AB018322 CCDS33855.1 3q21.3 2010-04-19 2005-07-13 ENSG00000172765 ENSG00000172765 23023.0 23023.0 """Transmembrane and coiled-coil domain containing""" 29116.0 protein-coding gene gene with protein product """transmembrane and coiled-coil domains 1""" 9872452 Standard NM_015008 NR_033361 Approved KIAA0779 uc021xdy.1 O94876 OTTHUMG00000159579 ENST00000432054.2:c.-287G>T 3.__UNKNOWN__:g.129389998C>A A8K5Y3|B4DE04|Q68E06|Q8IXM8 __UNKNOWN__ . . . . . . . . . . C 28.6 4.934060 0.92458 . . ENSG00000172765 ENST00000393238;ENST00000426664;ENST00000329333 T;T;T 0.46819 0.86;0.86;0.86 5.56 5.56 0.83823 . 0.000000 0.85682 D 0.000000 T 0.71500 0.3347 M 0.80028 2.48 0.80722 D 1 D;P 0.55385 0.971;0.895 D;P 0.67725 0.953;0.65 T 0.72734 -0.4204 10 0.56958 D 0.05 -14.9558 19.8814 0.96900 0.0:1.0:0.0:0.0 . 50;229 B4DE04;O94876 .;TMCC1_HUMAN L 229;115;50 ENSP00000376930:R229L;ENSP00000389892:R115L;ENSP00000327349:R50L ENSP00000327349:R50L R - 2 0 TMCC1 130872688 1.000000 0.71417 1.000000 0.80357 0.985000 0.73830 7.745000 0.85046 2.778000 0.95560 0.591000 0.81541 CGC TMCC1-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000356323.4 - ENST00000432054.2 5'UTR SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 ILF3 3609 broad.mit.edu 37 19 10799870 10799870 + Missense_Mutation SNP C C T TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr19:10799870C>T ENST00000590261.1 + 19.0 2567 c.2567C>T c.(2566-2568)tCg>tTg p.S856L ILF3_ENST00000449870.1_Missense_Mutation_p.S860L|ILF3_ENST00000588657.1_Missense_Mutation_p.S860L|ILF3_ENST00000318511.3_Missense_Mutation_p.S856L|ILF3_ENST00000586544.1_3'UTR Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 856.0 Interaction with PRMT1. defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) 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) 31.0 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) TACTCACAGTCGAACTACAAC 0.632 0 139.0 149.0 146.0 19 10799870.0 2203.0 4300.0 6503.0 SO:0001583 missense U10324 CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1 19p13.2 2012-08-10 2002-08-29 ENSG00000129351 ENSG00000129351 3609.0 3609.0 6038.0 protein-coding gene gene with protein product """M-phase phosphoprotein 4""" 603182.0 """interleukin enhancer binding factor 3, 90kD""" 7519613, 8885239 Standard NM_012218 Approved NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1 uc002mpo.3 Q12906 ENST00000590261.1:c.2567C>T 19.__UNKNOWN__:g.10799870C>T ENSP00000468156:p.Ser856Leu A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2 __UNKNOWN__ CCDS12246.1 . . . . . . . . . . C 20.1 3.936432 0.73442 . . ENSG00000129351 ENST00000449870;ENST00000318511 T;T 0.26373 1.74;1.75 5.32 5.32 0.75619 . 0.205916 0.42548 D 0.000699 T 0.41949 0.1181 L 0.32530 0.975 0.80722 D 1 D;D 0.71674 0.998;0.997 D;D 0.72982 0.979;0.953 T 0.25641 -1.0126 10 0.87932 D 0 . 17.9328 0.89004 0.0:1.0:0.0:0.0 . 860;856 G5E9M5;Q12906 .;ILF3_HUMAN L 860;856 ENSP00000404121:S860L;ENSP00000315205:S856L ENSP00000315205:S856L S + 2 0 ILF3 10660870 1.000000 0.71417 0.963000 0.40424 0.990000 0.78478 6.495000 0.73665 2.767000 0.95098 0.655000 0.94253 TCG ILF3-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452074.1 + ENST00000590261.1 Missense_Mutation SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 DNAH5 1767 broad.mit.edu 37 5 13793658 13793658 + Silent SNP C C T TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr5:13793658C>T ENST00000265104.4 - 49.0 8294 c.8190G>A c.(8188-8190)acG>acA p.T2730T NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2730.0 AAA 3. {ECO:0000250}. cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986) axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) 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) 378.0 Lung NSC(4;0.00476) CAGAGGGCAACGTGCAATTAA 0.478 Kartagener syndrome 0 136.0 139.0 138.0 5 13793658.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome AJ132090 CCDS3882.1 5p15.2 2008-07-18 2006-09-04 ENSG00000039139 ENSG00000039139 1767.0 1767.0 """Axonemal dyneins""" 2950.0 protein-coding gene gene with protein product """dynein heavy chain 5""" 603335.0 """dynein, axonemal, heavy polypeptide 5""" 9256245, 11788826 Standard NM_001369 NM_001369 Approved Dnahc5, HL1, PCD, CILD3, KTGNR uc003jfd.2 Q8TE73 OTTHUMG00000090533 ENST00000265104.4:c.8190G>A 5.__UNKNOWN__:g.13793658C>T Q92860|Q96L74|Q9H5S7|Q9HCG9 __UNKNOWN__ CCDS3882.1 DNAH5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207057.2 - ENST00000265104.4 Silent SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 HSPG2 3339 broad.mit.edu 37 1 22157966 22157966 + Silent SNP G G A TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr1:22157966G>A ENST00000374695.3 - 83.0 11521 c.11442C>T c.(11440-11442)agC>agT p.S3814S NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3814.0 Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}. angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) 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) 127.0 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) Palifermin(DB00039) CTATGAAGCCGCTGCTCAGCC 0.642 0 50.0 53.0 52.0 1 22157966.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant M85289 CCDS30625.1 1p36.1-p35 2013-01-29 2007-02-16 2007-02-16 ENSG00000142798 ENSG00000142798 3339.0 3339.0 """Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 5273.0 protein-coding gene gene with protein product """perlecan proteoglycan""" 142461.0 """Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)""" SJS1 1685141, 11941538 Standard NM_005529 XM_005245863 Approved perlecan, PRCAN uc001bfj.3 P98160 OTTHUMG00000002674 ENST00000374695.3:c.11442C>T 1.__UNKNOWN__:g.22157966G>A Q16287|Q5SZI3|Q9H3V5 __UNKNOWN__ CCDS30625.1 HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007598.1 - ENST00000374695.3 Silent SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 CARD11 84433 broad.mit.edu 37 7 2979544 2979544 + Silent SNP G G T TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr7:2979544G>T ENST00000396946.4 - 6.0 1106 c.703C>A c.(703-705)Cgg>Agg p.R235R NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 235.0 Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061) cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385) 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) 150.0 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTATTCAACCGGTGCTTTAGC 0.493 Mis DLBCL Dom yes 7 7p22 84433.0 """caspase recruitment domain family, member 11""" L 0 135.0 123.0 127.0 7 2979544.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF322641 CCDS5336.2 7p22 2014-09-17 ENSG00000198286 ENSG00000198286 84433.0 84433.0 16393.0 protein-coding gene gene with protein product """card-maguk protein 1"", ""bcl10-interacting maguk protein 3""" 607210.0 11278692, 11356195 Standard NM_032415 NM_032415 Approved CARMA1, BIMP3 uc003smv.3 Q9BXL7 OTTHUMG00000023023 ENST00000396946.4:c.703C>A 7.__UNKNOWN__:g.2979544G>T A4D1Z7|Q2NKN7|Q548H3 __UNKNOWN__ CCDS5336.2 CARD11-011 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000059344.4 - ENST00000396946.4 Silent SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 SSH1 54434 broad.mit.edu 37 12 109200167 109200167 + Silent SNP G G A TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr12:109200167G>A ENST00000326495.5 - 9.0 828 c.735C>T c.(733-735)ccC>ccT p.P245P SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000326470.5_Silent_p.P256P|SSH1_ENST00000551165.1_Silent_p.P245P NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 245.0 actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591) cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886) actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38.0 CCCCTTCAGTGGGCCTGGAAA 0.498 0 142.0 130.0 134.0 12 109200167.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC062341 CCDS9121.1, CCDS53825.1, CCDS55882.1 12q24.12 2013-03-05 2013-03-05 ENSG00000084112 54434.0 54434.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots""" 30579.0 protein-coding gene gene with protein product 606778.0 """slingshot homolog 1 (Drosophila)""" 10718198, 11832213 Standard NM_018984 NM_018984 Approved KIAA1298 uc001tnm.3 Q8WYL5 OTTHUMG00000169371 ENST00000326495.5:c.735C>T 12.__UNKNOWN__:g.109200167G>A Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8 __UNKNOWN__ CCDS9121.1 SSH1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000403724.1 - ENST00000326495.5 Silent SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 LRRC3 81543 broad.mit.edu 37 21 45877227 45877227 + Missense_Mutation SNP C C T TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr21:45877227C>T ENST00000291592.4 + 2.0 1017 c.700C>T c.(700-702)Cgg>Tgg p.R234W NM_030891.3 NP_112153.1 Q9BY71 LRRC3_HUMAN leucine rich repeat containing 3 234.0 integral component of membrane (GO:0016021) endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5.0 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) GGAGGATGCCCGGAGGCACCT 0.672 0 58.0 63.0 61.0 21 45877227.0 2203.0 4300.0 6503.0 SO:0001583 missense AB058646 CCDS13711.1 21q22.3 2011-12-07 2002-06-20 ENSG00000160233 ENSG00000160233 81543.0 81543.0 14965.0 protein-coding gene gene with protein product """chromosome 21 open reading frame 102""" C21orf102 12036297 Standard NM_030891 Approved uc002zfa.3 Q9BY71 OTTHUMG00000040847 ENST00000291592.4:c.700C>T 21.__UNKNOWN__:g.45877227C>T ENSP00000291592:p.Arg234Trp Q0VDJ2 __UNKNOWN__ CCDS13711.1 . . . . . . . . . . C 21.1 4.093289 0.76756 . . ENSG00000160233 ENST00000291592 T 0.63417 -0.04 4.81 -3.24 0.05094 . 0.202547 0.43919 D 0.000516 T 0.75824 0.3902 M 0.71036 2.16 0.53005 D 0.999969 D 0.89917 1.0 D 0.85130 0.997 T 0.77373 -0.2612 10 0.87932 D 0 -37.3553 18.6883 0.91573 0.2819:0.7181:0.0:0.0 . 234 Q9BY71 LRRC3_HUMAN W 234 ENSP00000291592:R234W ENSP00000291592:R234W R + 1 2 LRRC3 44701655 0.484000 0.25964 0.935000 0.37517 0.964000 0.63967 -0.008000 0.12788 -0.827000 0.04278 0.436000 0.28706 CGG LRRC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000098095.3 + ENST00000291592.4 Missense_Mutation SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 C4orf19 55286 broad.mit.edu 37 4 37590515 37590515 + Missense_Mutation SNP T T A TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr4:37590515T>A ENST00000284437.6 + 2.0 204 c.26T>A c.(25-27)aTa>aAa p.I9K C4orf19_ENST00000381980.4_Missense_Mutation_p.I9K|C4orf19_ENST00000508175.1_Missense_Mutation_p.I9K NM_018302.2 NP_060772.2 Q8IY42 CD019_HUMAN chromosome 4 open reading frame 19 9.0 large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1) 9.0 TGTAAAATAATACAAAGGTAA 0.398 0 98.0 95.0 96.0 4 37590515.0 2203.0 4300.0 6503.0 SO:0001583 missense BC037906 CCDS3442.1 4p14 2008-02-05 ENSG00000154274 ENSG00000154274 55286.0 55286.0 25618.0 protein-coding gene gene with protein product 12477932 Standard NM_018302 NM_001104629 Approved FLJ11017 uc003gsw.4 Q8IY42 OTTHUMG00000128580 ENST00000284437.6:c.26T>A 4.__UNKNOWN__:g.37590515T>A ENSP00000284437:p.Ile9Lys Q9NV03 __UNKNOWN__ CCDS3442.1 . . . . . . . . . . T 23.1 4.377644 0.82682 . . ENSG00000154274 ENST00000381980;ENST00000508175;ENST00000284437 T;T 0.33438 1.41;1.41 5.55 5.55 0.83447 . 0.000000 0.64402 D 0.000005 T 0.52725 0.1752 M 0.61703 1.905 0.53688 D 0.999972 D 0.89917 1.0 D 0.75484 0.986 T 0.54990 -0.8210 10 0.87932 D 0 -10.8045 14.4297 0.67240 0.0:0.0:0.0:1.0 . 9 Q8IY42 CD019_HUMAN K 9 ENSP00000371408:I9K;ENSP00000284437:I9K ENSP00000284437:I9K I + 2 0 C4orf19 37266910 1.000000 0.71417 1.000000 0.80357 0.965000 0.64279 5.037000 0.64170 2.333000 0.79357 0.482000 0.46254 ATA C4orf19-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250432.1 + ENST00000284437.6 Missense_Mutation SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 MLH3 27030 broad.mit.edu 37 14 75508331 75508331 + Missense_Mutation SNP G G A TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr14:75508331G>A ENST00000556740.1 - 3.0 3487 c.3452C>T c.(3451-3453)gCc>gTc p.A1151V MLH3_ENST00000355774.2_Missense_Mutation_p.A1151V|MLH3_ENST00000555671.1_Intron|MLH3_ENST00000238662.7_Missense_Mutation_p.A1151V|MLH3_ENST00000380968.2_Missense_Mutation_p.A97V|MLH3_ENST00000544985.1_Missense_Mutation_p.A146V|MLH3_ENST00000556257.1_Intron Q9UHC1 MLH3_HUMAN mutL homolog 3 1151.0 ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130) chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697) 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) 44.0 BRCA - Breast invasive adenocarcinoma(234;0.00688) TGGATAACGGGCAAATACTGG 0.388 Mismatch excision repair (MMR) 0 122.0 104.0 110.0 14 75508331.0 2203.0 4300.0 6503.0 SO:0001583 missense AF195657 CCDS9837.1, CCDS32123.1 14q24.3 2014-09-17 2013-09-12 ENSG00000119684 27030.0 27030.0 7128.0 protein-coding gene gene with protein product 604395.0 """mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)""" 10615123 Standard NM_014381 XR_245681 Approved uc001xrd.1 Q9UHC1 ENST00000556740.1:c.3452C>T 14.__UNKNOWN__:g.75508331G>A ENSP00000452316:p.Ala1151Val P49751|Q56DK9|Q9P292|Q9UHC0 __UNKNOWN__ CCDS32123.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 15.80|15.80 2.940852|2.940852 0.52972|0.52972 .|. .|. ENSG00000119684|ENSG00000119684 ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556740;ENST00000544985|ENST00000553713 T;T;T;T;T|. 0.80566|. -1.39;0.66;-1.3;-1.39;0.58|. 5.94|5.94 5.94|5.94 0.96194|0.96194 .|. 0.325148|. 0.37577|. N|. 0.002029|. T|T 0.47173|0.47173 0.1431|0.1431 L|L 0.36672|0.36672 1.1|1.1 0.29312|0.29312 N|N 0.867957|0.867957 B;B|. 0.26744|. 0.158;0.058|. B;B|. 0.26416|. 0.069;0.012|. T|T 0.43702|0.43702 -0.9375|-0.9375 10|5 0.39692|. T|. 0.17|. -3.8281|-3.8281 13.966|13.966 0.64209|0.64209 0.0777:0.0:0.9223:0.0|0.0777:0.0:0.9223:0.0 .|. 1151;1151|. Q9UHC1-2;Q9UHC1|. .;MLH3_HUMAN|. V|S 1151;97;1151;1151;146|175 ENSP00000348020:A1151V;ENSP00000370355:A97V;ENSP00000238662:A1151V;ENSP00000452316:A1151V;ENSP00000441371:A146V|. ENSP00000238662:A1151V|. A|P -|- 2|1 0|0 MLH3|MLH3 74578084|74578084 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.997000|0.997000 0.91878|0.91878 3.949000|3.949000 0.56668|0.56668 2.826000|2.826000 0.97356|0.97356 0.561000|0.561000 0.74099|0.74099 GCC|CCC MLH3-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000415006.1 - ENST00000556740.1 Missense_Mutation SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 BAGE2 85319 broad.mit.edu 37 21 11038778 11038778 + RNA SNP G G C TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr21:11038778G>C ENST00000470054.1 - 0.0 1425 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 extracellular region (GO:0005576) 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) GTAATAGCTGGTTTACCCATG 0.398 0 AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319.0 85319.0 15723.0 protein-coding gene gene with protein product """cancer/testis antigen family 2, member 2""" 12461691 Standard NM_182482 NM_182482 Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: 21.__UNKNOWN__:g.11038778G>C A8K925|Q08ER0 __UNKNOWN__ BAGE2-001 KNOWN basic processed_transcript pseudogene OTTHUMT00000157417.3 - ENST00000470054.1 RNA SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 PRMT5 10419 broad.mit.edu 37 14 23393872 23393872 + Missense_Mutation SNP T T C TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr14:23393872T>C ENST00000324366.8 - 9.0 1209 c.986A>G c.(985-987)aAg>aGg p.K329R PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.K312R|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.K285R|PRMT5_ENST00000538452.1_Missense_Mutation_p.K223R|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.K158R|PRMT5_ENST00000216350.8_Missense_Mutation_p.K268R NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 329.0 SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}. cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634) chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714) endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25.0 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) GATGGGGTCCTTTTCAAACAC 0.488 0 107.0 96.0 100.0 14 23393872.0 2203.0 4300.0 6503.0 SO:0001583 missense AF015913 CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1 14q11.2 2014-06-12 2006-02-16 2006-02-16 ENSG00000100462 ENSG00000100462 10419.0 10419.0 2.1.1.125 """Protein arginine methyltransferases""" 10894.0 protein-coding gene gene with protein product 604045.0 """skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)""" HRMT1L5, SKB1 9843966 Standard NM_001282955 Approved SKB1Hs uc001whm.1 O14744 OTTHUMG00000028709 ENST00000324366.8:c.986A>G 14.__UNKNOWN__:g.23393872T>C ENSP00000319169:p.Lys329Arg A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1 __UNKNOWN__ CCDS9579.1 . . . . . . . . . . T 23.6 4.435772 0.83885 . . ENSG00000100462 ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000553502;ENST00000555530;ENST00000556043;ENST00000553550 T;T;T;T;T;T 0.21932 1.98;1.98;1.98;1.98;1.98;1.98 5.92 5.92 0.95590 . 0.088928 0.85682 D 0.000000 T 0.30885 0.0779 L 0.43701 1.375 0.80722 D 1 P;B;B;P;P 0.52692 0.778;0.363;0.333;0.955;0.516 B;B;B;P;B 0.54060 0.398;0.38;0.208;0.741;0.313 T 0.01143 -1.1438 10 0.28530 T 0.3 -21.0851 15.346 0.74337 0.0:0.0:0.0:1.0 . 285;268;158;329;312 G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91 .;.;.;ANM5_HUMAN;. R 329;312;158;268;223;285;72;224;81;175 ENSP00000319169:K329R;ENSP00000380583:K312R;ENSP00000380582:K158R;ENSP00000216350:K268R;ENSP00000444915:K223R;ENSP00000452555:K285R ENSP00000216350:K268R K - 2 0 PRMT5 22463712 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 6.970000 0.76099 2.270000 0.75569 0.459000 0.35465 AAG PRMT5-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000071674.3 - ENST00000324366.8 Missense_Mutation SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 OR2L2 26246 broad.mit.edu 37 1 248202447 248202447 + Missense_Mutation SNP A A G TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr1:248202447A>G ENST00000366479.2 + 1.0 974 c.878A>G c.(877-879)aAc>aGc p.N293S OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 293.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42.0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) AGCCTGAGAAACAAGGAGGTG 0.473 0 79.0 78.0 78.0 1 248202447.0 2203.0 4300.0 6503.0 SO:0001583 missense X64978 CCDS31103.1 1q44 2012-08-09 ENSG00000203663 ENSG00000203663 26246.0 26246.0 """GPCR / Class A : Olfactory receptors""" 8266.0 protein-coding gene gene with protein product OR2L4P, OR2L12 1370859 Standard NM_001004686 NM_001004686 Approved HTPCRH07, HSHTPCRH07 uc001idw.3 Q8NH16 OTTHUMG00000040214 ENST00000366479.2:c.878A>G 1.__UNKNOWN__:g.248202447A>G ENSP00000355435:p.Asn293Ser Q2M3T5 __UNKNOWN__ CCDS31103.1 . . . . . . . . . . . 12.05 1.822829 0.32237 . . ENSG00000203663 ENST00000366479 T 0.39997 1.05 1.9 0.66 0.17868 . . . . . T 0.53753 0.1816 M 0.69463 2.115 0.22581 N 0.998962 D 0.67145 0.996 P 0.62184 0.899 T 0.42032 -0.9475 9 0.87932 D 0 . 6.3852 0.21556 0.7798:0.0:0.0:0.2202 . 293 Q8NH16 OR2L2_HUMAN S 293 ENSP00000355435:N293S ENSP00000355435:N293S N + 2 0 OR2L2 246269070 0.018000 0.18449 0.978000 0.43139 0.573000 0.36030 0.537000 0.23144 -0.082000 0.12640 0.163000 0.16589 AAC OR2L2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000096871.1 + ENST00000366479.2 Missense_Mutation SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 BSN 8927 broad.mit.edu 37 3 49693162 49693162 + Missense_Mutation SNP T T G TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr3:49693162T>G ENST00000296452.4 + 5.0 6287 c.6173T>G c.(6172-6174)aTg>aGg p.M2058R NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2058.0 synaptic transmission (GO:0007268) axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788) metal ion binding (GO:0046872) 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) 106.0 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCGCTTCCCATGCGGCGCTAT 0.602 0 108.0 101.0 103.0 3 49693162.0 2203.0 4300.0 6503.0 SO:0001583 missense AF052224 CCDS2800.1 3p21 2013-01-07 2013-01-07 ENSG00000164061 ENSG00000164061 8927.0 8927.0 1117.0 protein-coding gene gene with protein product """zinc finger protein 231"", ""neuronal double zinc finger protein""" 604020.0 """bassoon (presynaptic cytomatrix protein)""" ZNF231 9806829, 10329005 Standard NM_003458 NM_003458 Approved uc003cxe.4 Q9UPA5 OTTHUMG00000133750 ENST00000296452.4:c.6173T>G 3.__UNKNOWN__:g.49693162T>G ENSP00000296452:p.Met2058Arg O43161|Q7LGH3 __UNKNOWN__ CCDS2800.1 . . . . . . . . . . T 10.93 1.489184 0.26686 . . ENSG00000164061 ENST00000296452 T 0.20332 2.08 5.34 5.34 0.76211 . 0.147890 0.64402 D 0.000007 T 0.25901 0.0631 L 0.57536 1.79 0.49130 D 0.999758 P 0.37955 0.612 B 0.37943 0.261 T 0.03784 -1.1004 10 0.62326 D 0.03 -7.3243 15.3196 0.74112 0.0:0.0:0.0:1.0 . 2058 Q9UPA5 BSN_HUMAN R 2058 ENSP00000296452:M2058R ENSP00000296452:M2058R M + 2 0 BSN 49668166 1.000000 0.71417 1.000000 0.80357 0.731000 0.41821 8.033000 0.88852 2.020000 0.59435 0.459000 0.35465 ATG BSN-001 KNOWN NMD_exception|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000258164.1 + ENST00000296452.4 Missense_Mutation SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 NDUFS7 374291 broad.mit.edu 37 19 1391008 1391008 + Missense_Mutation SNP G G A TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr19:1391008G>A ENST00000233627.9 + 5.0 663 c.367G>A c.(367-369)Gcc>Acc p.A123T NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000414651.2_Missense_Mutation_p.A153T|NDUFS7_ENST00000539480.1_Missense_Mutation_p.A123T|NDUFS7_ENST00000546283.1_Missense_Mutation_p.A123T|NDUFS7_ENST00000313408.7_Missense_Mutation_p.A123T NM_024407.4 NP_077718.3 O75251 NDUS7_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) 123.0 cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|synaptic membrane (GO:0097060) 4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|quinone binding (GO:0048038) ovary(1) 1.0 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419) 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) Doxorubicin(DB00997) CATGATCGTGGCCGGCACACT 0.687 0 53.0 52.0 52.0 19 1391008.0 2203.0 4299.0 6502.0 SO:0001583 missense AF115969 CCDS12063.1 19p13 2011-07-04 2002-08-29 ENSG00000115286 ENSG00000115286 374291.0 374291.0 """Mitochondrial respiratory chain complex / Complex I""" 7714.0 protein-coding gene gene with protein product """complex I 20kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial""" 601825.0 """NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)""" 8938450 Standard NM_024407 NM_024407 Approved PSST, FLJ46880, FLJ45860, CI-20 uc002lse.4 O75251 OTTHUMG00000168077 ENST00000233627.9:c.367G>A 19.__UNKNOWN__:g.1391008G>A ENSP00000233627:p.Ala123Thr B3KRI2|Q2T9H7|Q9BV17 __UNKNOWN__ CCDS12063.1 . . . . . . . . . . G 15.19 2.758486 0.49468 . . ENSG00000115286 ENST00000546283;ENST00000233627;ENST00000539480;ENST00000313408;ENST00000450862;ENST00000414651;ENST00000538929;ENST00000538523;ENST00000540530;ENST00000535382 T;T;T;T;T 0.75589 -0.95;-0.95;-0.95;-0.95;-0.95 4.6 4.6 0.57074 NADH:ubiquinone oxidoreductase-like, 20kDa subunit (2); . . . . D 0.82305 0.5008 L 0.48260 1.515 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.91635 0.998;0.997;0.999;0.998 D 0.84653 0.0702 9 0.87932 D 0 . 16.0157 0.80439 0.0:0.0:1.0:0.0 . 123;130;123;123 F5H5N1;Q8NAS7;B3KRI2;O75251 .;.;.;NDUS7_HUMAN T 123;123;123;123;123;153;42;42;42;42 ENSP00000440348:A123T;ENSP00000233627:A123T;ENSP00000443273:A123T;ENSP00000364262:A123T;ENSP00000406630:A153T ENSP00000233627:A123T A + 1 0 NDUFS7 1342008 1.000000 0.71417 0.682000 0.30024 0.039000 0.13416 9.258000 0.95555 2.100000 0.63781 0.561000 0.74099 GCC NDUFS7-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000397984.1 + ENST00000233627.9 Missense_Mutation SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 GTSE1 51512 broad.mit.edu 37 22 46704404 46704404 + Missense_Mutation SNP C C T TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr22:46704404C>T ENST00000454366.1 + 4.0 538 c.326C>T c.(325-327)gCt>gTt p.A109V NM_016426.6 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 90.0 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017) cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27.0 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) CACTTACTGGCTTTACACATT 0.572 GBM(153;542 1915 12487 29016 50495) 0 59.0 68.0 65.0 22 46704404.0 2203.0 4300.0 6503.0 SO:0001583 missense AF223408 CCDS14074.2 22q13.2-q13.3 2008-06-10 ENSG00000075218 ENSG00000075218 51512.0 51512.0 13698.0 protein-coding gene gene with protein product 607477.0 10974554, 10984615, 12750368 Standard NM_016426 NM_016426 Approved GTSE-1, B99 uc011aqy.2 Q9NYZ3 OTTHUMG00000150486 ENST00000454366.1:c.326C>T 22.__UNKNOWN__:g.46704404C>T ENSP00000415430:p.Ala109Val B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557 __UNKNOWN__ CCDS14074.2 . . . . . . . . . . C 23.5 4.424680 0.83667 . . ENSG00000075218 ENST00000454366;ENST00000361934 T 0.18810 2.19 5.74 5.74 0.90152 . 0.047590 0.85682 D 0.000000 T 0.52289 0.1725 M 0.80616 2.505 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.54840 -0.8233 10 0.87932 D 0 -28.835 19.5244 0.95197 0.0:1.0:0.0:0.0 . 90 Q9NYZ3 GTSE1_HUMAN V 109;69 ENSP00000415430:A109V ENSP00000354634:A69V A + 2 0 GTSE1 45083068 0.999000 0.42202 0.912000 0.35992 0.388000 0.30384 5.154000 0.64894 2.700000 0.92200 0.655000 0.94253 GCT GTSE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318360.2 + ENST00000454366.1 Missense_Mutation SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 PHF15 0 broad.mit.edu 37 5 133895558 133895558 + Missense_Mutation SNP C C T TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr5:133895558C>T ENST00000402835.1 + 5.0 605 c.350C>T c.(349-351)tCc>tTc p.S117F PHF15_ENST00000361895.2_Missense_Mutation_p.S117F|PHF15_ENST00000395003.1_Missense_Mutation_p.S117F|PHF15_ENST00000282605.4_Missense_Mutation_p.S117F NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22.0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCCCAGGCATCCCCGAGCAGC 0.622 0 49.0 46.0 47.0 5 133895558.0 2203.0 4300.0 6503.0 SO:0001583 missense ENST00000402835.1:c.350C>T 5.__UNKNOWN__:g.133895558C>T ENSP00000384671:p.Ser117Phe __UNKNOWN__ . . . . . . . . . . C 19.66 3.868302 0.72065 . . ENSG00000043143 ENST00000512386;ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355 T;T;T;T;T;T 0.43688 0.94;0.94;0.94;0.94;0.94;0.94 5.84 4.95 0.65309 Enhancer of polycomb-like, N-terminal (1); 0.756002 0.12459 N 0.467117 T 0.46541 0.1398 L 0.40543 1.245 0.38512 D 0.948509 B;B;B;B;B 0.30406 0.085;0.192;0.085;0.278;0.195 B;B;B;B;B 0.41412 0.251;0.356;0.251;0.173;0.356 T 0.49818 -0.8899 10 0.72032 D 0.01 . 14.3145 0.66440 0.0:0.852:0.148:0.0 . 117;117;117;117;133 Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2 JADE2_HUMAN;.;.;.;. F 117;117;133;117;117;117;117;117;117 ENSP00000422991:S117F;ENSP00000282605:S117F;ENSP00000354425:S117F;ENSP00000384671:S117F;ENSP00000378451:S117F;ENSP00000406189:S117F ENSP00000282605:S117F S + 2 0 PHF15 133923457 1.000000 0.71417 0.528000 0.27938 0.008000 0.06430 4.319000 0.59197 1.437000 0.47472 0.561000 0.74099 TCC PHF15-007 PUTATIVE alternative_5_UTR|basic|exp_conf protein_coding protein_coding OTTHUMT00000318543.1 + ENST00000402835.1 Missense_Mutation SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 EPAS1 2034 broad.mit.edu 37 2 46607402 46607402 + Missense_Mutation SNP C C G TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr2:46607402C>G ENST00000263734.3 + 12.0 2101 c.1591C>G c.(1591-1593)Ccc>Gcc p.P531A NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 531.0 NTAD. angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601) cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134) 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) 39.0 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) GACACTGGCACCCTATATCCC 0.587 0 85.0 93.0 91.0 2 46607402.0 2203.0 4300.0 6503.0 SO:0001583 missense U81984 CCDS1825.1 2p21-p16 2013-05-21 ENSG00000116016 ENSG00000116016 2034.0 2034.0 """Basic helix-loop-helix proteins""" 3374.0 protein-coding gene gene with protein product """HIF-1 alpha-like factor""" 603349.0 9000051, 9079689, 18378852 Standard NM_001430 NM_001430 Approved MOP2, PASD2, HIF2A, HLF, bHLHe73 uc002ruv.3 Q99814 OTTHUMG00000128818 ENST00000263734.3:c.1591C>G 2.__UNKNOWN__:g.46607402C>G ENSP00000263734:p.Pro531Ala Q86VA2|Q99630 __UNKNOWN__ CCDS1825.1 . . . . . . . . . . C 26.9 4.783223 0.90282 . . ENSG00000116016 ENST00000263734 D 0.99511 -6.05 5.06 5.06 0.68205 . 0.000000 0.85682 D 0.000000 D 0.99444 0.9803 M 0.70595 2.14 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.98897 1.0775 10 0.87932 D 0 . 18.4411 0.90666 0.0:1.0:0.0:0.0 . 531 Q99814 EPAS1_HUMAN A 531 ENSP00000263734:P531A ENSP00000263734:P531A P + 1 0 EPAS1 46460906 1.000000 0.71417 0.997000 0.53966 0.970000 0.65996 7.814000 0.86154 2.361000 0.80049 0.491000 0.48974 CCC EPAS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250752.2 + ENST00000263734.3 Missense_Mutation SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 CA11 770 broad.mit.edu 37 19 49142648 49142648 + Missense_Mutation SNP A A G TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr19:49142648A>G ENST00000084798.4 - 7.0 1388 c.709T>C c.(709-711)Tat>Cat p.Y237H SEC1P_ENST00000430145.2_RNA NM_001217.3 NP_001208.2 O75493 CAH11_HUMAN carbonic anhydrase XI 237.0 basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 14.0 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016) Zonisamide(DB00909) GAGCCCTGATAGGTGATGAAG 0.562 0 71.0 71.0 71.0 19 49142648.0 2203.0 4300.0 6503.0 SO:0001583 missense AF067662 CCDS12729.1 19q13.3 2012-07-02 ENSG00000063180 ENSG00000063180 770.0 770.0 """Carbonic anhydrases""" 1370.0 protein-coding gene gene with protein product """CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2""" 604644.0 9878252 Standard NM_001217 XR_243956 Approved CARP2, CARPX1 uc002pjz.1 O75493 ENST00000084798.4:c.709T>C 19.__UNKNOWN__:g.49142648A>G ENSP00000084798:p.Tyr237His O60596|Q6FHI1|Q9UEC4 __UNKNOWN__ CCDS12729.1 . . . . . . . . . . A 19.76 3.888142 0.72524 . . ENSG00000063180 ENST00000084798 T 0.80123 -1.34 3.22 3.22 0.36961 Carbonic anhydrase, alpha-class, catalytic domain (4); 0.152412 0.45606 D 0.000358 D 0.90669 0.7073 H 0.96460 3.825 0.50813 D 0.999893 D 0.61080 0.989 D 0.64042 0.921 D 0.91112 0.4923 10 0.87932 D 0 . 8.0781 0.30729 1.0:0.0:0.0:0.0 . 237 O75493 CAH11_HUMAN H 237 ENSP00000084798:Y237H ENSP00000084798:Y237H Y - 1 0 CA11 53834460 1.000000 0.71417 1.000000 0.80357 0.958000 0.62258 7.628000 0.83189 1.470000 0.48102 0.374000 0.22700 TAT CA11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466172.1 - ENST00000084798.4 Missense_Mutation SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 ITGAM 3684 broad.mit.edu 37 16 31273075 31273075 + Missense_Mutation SNP G G A TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr16:31273075G>A ENST00000544665.3 + 2.0 162 c.91G>A c.(91-93)Gca>Aca p.A31T ITGAM_ENST00000287497.8_Missense_Mutation_p.A31T NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 31.0 activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224) cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886) glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872) endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56.0 CCAAGAGAACGCAAGGGGCTT 0.517 0 64.0 60.0 61.0 16 31273075.0 1959.0 4144.0 6103.0 SO:0001583 missense J03925 CCDS45470.1, CCDS54004.1 16p11.2 2010-03-23 2006-02-10 ENSG00000169896 3684.0 3684.0 """CD molecules"", ""Complement system"", ""Integrins""" 6149.0 protein-coding gene gene with protein product 120980.0 """integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)""" CR3A, CD11B Standard NM_000632 NM_001145808 Approved MAC-1, CD11b uc002ebr.3 P11215 ENST00000544665.3:c.91G>A 16.__UNKNOWN__:g.31273075G>A ENSP00000441691:p.Ala31Thr Q4VAK0|Q4VAK1|Q4VAK2 __UNKNOWN__ CCDS54004.1 . . . . . . . . . . G 14.07 2.425892 0.43020 . . ENSG00000169896 ENST00000544665;ENST00000287497 T;T 0.72505 -0.66;-0.66 5.13 5.13 0.70059 . . . . . T 0.71913 0.3396 M 0.64404 1.975 0.09310 N 1 P;P 0.47350 0.894;0.894 P;P 0.44422 0.449;0.449 T 0.67829 -0.5569 9 0.59425 D 0.04 . 14.1377 0.65297 0.0:0.0:1.0:0.0 . 31;31 Q4VAK1;P11215 .;ITAM_HUMAN T 31 ENSP00000441691:A31T;ENSP00000287497:A31T ENSP00000287497:A31T A + 1 0 ITGAM 31180576 0.255000 0.24002 0.010000 0.14722 0.019000 0.09904 4.816000 0.62642 2.407000 0.81776 0.650000 0.86243 GCA ITGAM-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000432817.2 + ENST00000544665.3 Missense_Mutation SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 Unknown 0 bcgsc.ca 37 9 79164385 79164385 + RNA SNP A A G TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr9:79164385A>G GCNT1 (42053 upstream) : AL161626.1 (22345 downstream) GTTGAGTCCAACATTTGCCAT 0.458 0 SO:0001628 intergenic_variant 9.__UNKNOWN__:g.79164385A>G __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 Unknown 0 bcgsc.ca 37 X 40750540 40750540 + RNA SNP G G C TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chrX:40750540G>C MED14-AS1 (152590 upstream) : USP9X (194347 downstream) GGAAGGTCTTGCTACCAACTG 0.428 0 SO:0001628 intergenic_variant X.__UNKNOWN__:g.40750540G>C __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 HIVEP1 3096 ucsc.edu 37 6 12122162 12122162 + Missense_Mutation SNP G G A TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr6:12122162G>A ENST00000379388.2 + 4.0 2466 c.2134G>A c.(2134-2136)Gct>Act p.A712T NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 712.0 negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) mitochondrion (GO:0005739)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) 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) 90.0 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) ACCCTCTGCAGCTCTTGTCAC 0.517 0 66.0 66.0 66.0 6 12122162.0 2077.0 4196.0 6273.0 SO:0001583 missense J05011 CCDS43426.1 6p24-p22.3 2012-10-05 2001-11-28 ENSG00000095951 ENSG00000095951 3096.0 3096.0 """Zinc fingers, C2H2-type""" 4920.0 protein-coding gene gene with protein product 194540 """human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40""" ZNF40 2037300 Standard NM_002114 XR_241895 Approved CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A uc003nac.3 P15822 OTTHUMG00000014265 ENST00000379388.2:c.2134G>A 6.__UNKNOWN__:g.12122162G>A ENSP00000368698:p.Ala712Thr B2RTU3|Q14122|Q5MPB1|Q5VW60 __UNKNOWN__ CCDS43426.1 . . . . . . . . . . G 10.72 1.429254 0.25726 . . ENSG00000095951 ENST00000379388 T 0.11277 2.79 5.81 -2.05 0.07321 . 0.224317 0.23032 N 0.052727 T 0.01387 0.0045 N 0.22421 0.69 0.21473 N 0.999672 B 0.23442 0.085 B 0.19666 0.026 T 0.44832 -0.9302 9 . . . -6.3948 2.7151 0.05185 0.0983:0.4262:0.2034:0.2721 . 712 P15822 ZEP1_HUMAN T 712 ENSP00000368698:A712T . A + 1 0 HIVEP1 12230148 0.000000 0.05858 0.003000 0.11579 0.001000 0.01503 -0.094000 0.11094 0.037000 0.15575 -0.867000 0.03001 GCT HIVEP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039870.2 + ENST00000379388.2 Missense_Mutation SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 METTL5 29081 ucsc.edu 37 2 170677727 170677727 + Missense_Mutation SNP G G T TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr2:170677727G>T ENST00000409340.1 - 3.0 185 METTL5_ENST00000409837.1_Missense_Mutation_p.A94E|METTL5_ENST00000308099.3_Missense_Mutation_p.A94E|METTL5_ENST00000410097.1_Missense_Mutation_p.A94E|METTL5_ENST00000260953.5_Missense_Mutation_p.A94E|METTL5_ENST00000409965.1_Missense_Mutation_p.A94E|METTL5_ENST00000392640.2_Missense_Mutation_p.A94E Q9NRN9 METL5_HUMAN methyltransferase like 5 methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676) breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1) 10.0 AAACTCTTCTGCATTCCTATT 0.338 0 109.0 108.0 109.0 2 170677727.0 2203.0 4299.0 6502.0 SO:0001627 intron_variant AF201938 CCDS33320.1 2q31.1 2011-01-28 ENSG00000138382 ENSG00000138382 29081.0 29081.0 25006.0 protein-coding gene gene with protein product 11042152 Standard NM_014168 XM_005246478 Approved HSPC133 uc002ufn.3 Q9NRN9 OTTHUMG00000154117 ENST00000409340.1:c.110-1574C>A 2.__UNKNOWN__:g.170677727G>T D3DPC9|Q9NVX1 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 14.57|14.57 2.574181|2.574181 0.45902|0.45902 .|. .|. ENSG00000138382|ENSG00000138382 ENST00000409837;ENST00000540464;ENST00000260953;ENST00000409965;ENST00000392640;ENST00000308099;ENST00000410097|ENST00000442181 T;T;T;T;T;T|. 0.51071|. 0.72;0.72;0.72;0.72;0.72;0.72|. 5.04|5.04 3.88|3.88 0.44766|0.44766 Methyltransferase small (1);|. 0.378221|. 0.29806|. N|. 0.011160|. T|T 0.54319|0.54319 0.1851|0.1851 M|M 0.73753|0.73753 2.245|2.245 0.23238|0.23238 N|N 0.998066|0.998066 P;B|. 0.48407|. 0.91;0.248|. P;B|. 0.52066|. 0.689;0.367|. T|T 0.47749|0.47749 -0.9093|-0.9093 10|5 0.30078|. T|. 0.28|. -5.5337|-5.5337 7.5649|7.5649 0.27872|0.27872 0.764:0.0:0.236:0.0|0.764:0.0:0.236:0.0 .|. 94;94|. B8ZZC8;Q9NRN9|. .;METL5_HUMAN|. E|K 94|5 ENSP00000386703:A94E;ENSP00000260953:A94E;ENSP00000386582:A94E;ENSP00000376415:A94E;ENSP00000307903:A94E;ENSP00000387056:A94E|. ENSP00000260953:A94E|. A|Q -|- 2|1 0|0 METTL5|METTL5 170385973|170385973 0.998000|0.998000 0.40836|0.40836 0.999000|0.999000 0.59377|0.59377 0.938000|0.938000 0.57974|0.57974 3.282000|3.282000 0.51693|0.51693 0.871000|0.871000 0.35750|0.35750 -0.238000|-0.238000 0.12139|0.12139 GCA|CAG METTL5-006 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000333962.1 - ENST00000409340.1 Intron SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 MFNG 4242 ucsc.edu 37 22 37872933 37872933 + Splice_Site SNP C C T TCGA-S7-A7X0-01A-12D-A35I-08 TCGA-S7-A7X0-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq ac0ac255-1b96-4cad-922d-00e6a1eee43a 189f6578-c5db-4547-8d15-0121e268c8b1 g.chr22:37872933C>T ENST00000356998.3 - 5.0 871 c.e5+1 MFNG_ENST00000416983.3_Splice_Site NM_002405.3 NP_002396.2 O00587 MFNG_HUMAN MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092) extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173) metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829) large_intestine(2)|lung(2)|skin(1) 5.0 Melanoma(58;0.0574) TCTCTGCTTACCTGGCCCACG 0.607 0 42.0 41.0 41.0 22 37872933.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant BC094814 CCDS13947.1, CCDS54525.1 22q13.1 2013-02-19 2006-11-13 ENSG00000100060 ENSG00000100060 4242.0 4242.0 2.4.1.222 """Beta 3-glycosyltransferases""" 7038.0 protein-coding gene gene with protein product 602577 """manic fringe (Drosophila) homolog"", ""manic fringe homolog (Drosophila)""" 9878264, 9187150 Standard NM_002405 NM_002405 Approved uc003ass.2 O00587 OTTHUMG00000150560 ENST00000356998.3:c.647+1G>A 22.__UNKNOWN__:g.37872933C>T B4DLT6|O43730|Q504S9 __UNKNOWN__ CCDS13947.1 . . . . . . . . . . C 18.98 3.737366 0.69304 . . ENSG00000100060 ENST00000416983;ENST00000356998;ENST00000436341 . . . 5.22 4.19 0.49359 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 14.9875 0.71359 0.0:0.8562:0.1438:0.0 . . . . . -1 . . . - . . MFNG 36202879 1.000000 0.71417 1.000000 0.80357 0.834000 0.47266 7.095000 0.76952 1.295000 0.44724 0.561000 0.74099 . MFNG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318902.1 Intron - ENST00000356998.3 Splice_Site SNP PCPG-TCGA-S7-A7X0-Normal-SM-5EMM8 WEE2 494551 broad.mit.edu 37 7 141414151 141414151 + Missense_Mutation SNP C C T TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr7:141414151C>T ENST00000397541.2 + 2.0 891 c.485C>T c.(484-486)tCc>tTc p.S162F WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000471512.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 162.0 female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31.0 Melanoma(164;0.0171) ACTCCAGAGTCCTATAAAAAA 0.423 0 67.0 64.0 65.0 7 141414151.0 1831.0 4093.0 5924.0 SO:0001583 missense AK131218 CCDS43660.1 7q32 2008-07-02 ENSG00000214102 ENSG00000214102 494551.0 494551.0 19684.0 protein-coding gene gene with protein product 614084.0 Standard NM_001105558 NM_001105558 Approved FLJ16107 uc003vwn.2 P0C1S8 OTTHUMG00000157536 ENST00000397541.2:c.485C>T 7.__UNKNOWN__:g.141414151C>T ENSP00000380675:p.Ser162Phe __UNKNOWN__ CCDS43660.1 . . . . . . . . . . C 22.9 4.349046 0.82132 . . ENSG00000214102 ENST00000397541 T 0.42900 0.96 4.92 4.92 0.64577 . 0.176579 0.37669 U 0.001988 T 0.63177 0.2489 M 0.74881 2.28 0.47009 D 0.999283 D 0.65815 0.995 P 0.60886 0.88 T 0.68224 -0.5465 10 0.87932 D 0 . 18.3024 0.90168 0.0:1.0:0.0:0.0 . 162 P0C1S8 WEE2_HUMAN F 162 ENSP00000380675:S162F ENSP00000380675:S162F S + 2 0 WEE2 141060620 1.000000 0.71417 1.000000 0.80357 0.877000 0.50540 4.703000 0.61824 2.550000 0.86006 0.585000 0.79938 TCC WEE2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000349091.1 + ENST00000397541.2 Missense_Mutation SNP PCPG-TCGA-S7-A7X1-Normal-SM-5EMLZ CNGB3 54714 broad.mit.edu 37 8 87679266 87679266 + Missense_Mutation SNP C C T rs150490913 TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr8:87679266C>T ENST00000320005.5 - 6.0 786 c.739G>A c.(739-741)Gca>Aca p.A247T NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 247.0 cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601) integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495) cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249) 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) 80.0 ATGTTGTCTGCGGTTTGATAT 0.443 0 C THR/ALA 1,4405 2.1+/-5.4 0,1,2202 122.0 110.0 114.0 739 3.7 0.9 8 dbSNP_134 114.0 0,8600 0,0,4300 no missense CNGB3 NM_019098.4 58 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 benign 247/810 87679266.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AF228520 CCDS6244.1 8q21.3 2013-01-23 2003-06-25 ENSG00000170289 ENSG00000170289 54714.0 54714.0 """Voltage-gated ion channels / Cyclic nucleotide-regulated channels""" 2153.0 protein-coding gene gene with protein product 605080.0 """achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1""" ACHM3, ACHM1, RMCH 10888875, 10958649, 16382102 Standard NM_019098 NM_019098 Approved uc003ydx.3 Q9NQW8 OTTHUMG00000163738 ENST00000320005.5:c.739G>A 8.__UNKNOWN__:g.87679266C>T ENSP00000316605:p.Ala247Thr C9JA51|Q9NRE9 __UNKNOWN__ CCDS6244.1 . . . . . . . . . . C 11.34 1.610396 0.28712 2.27E-4 0.0 ENSG00000170289 ENST00000320005 T 0.12569 2.67 5.54 3.71 0.42584 . 0.120536 0.56097 D 0.000028 T 0.09598 0.0236 N 0.12182 0.205 0.27119 N 0.96219 B;B 0.14438 0.01;0.006 B;B 0.14023 0.01;0.004 T 0.15780 -1.0425 10 0.49607 T 0.09 . 16.1249 0.81386 0.0:0.3815:0.6185:0.0 . 247;247 Q9NQW8-2;Q9NQW8 .;CNGB3_HUMAN T 247 ENSP00000316605:A247T ENSP00000316605:A247T A - 1 0 CNGB3 87748382 0.555000 0.26530 0.915000 0.36163 0.051000 0.14879 0.781000 0.26774 0.679000 0.31345 -0.139000 0.14373 GCA CNGB3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000375107.1 - ENST00000320005.5 Missense_Mutation SNP PCPG-TCGA-S7-A7X1-Normal-SM-5EMLZ PCLO 27445 broad.mit.edu 37 7 82580363 82580363 + Missense_Mutation SNP C C G TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr7:82580363C>G ENST00000333891.9 - 6.0 9878 c.9541G>C c.(9541-9543)Gtt>Ctt p.V3181L PCLO_ENST00000423517.2_Missense_Mutation_p.V3181L NM_033026.5 NP_149015.2 piccolo presynaptic cytomatrix protein 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) 259.0 AAAGTGGGAACAGAGTCTATC 0.433 0 52.0 49.0 50.0 7 82580363.0 1925.0 4155.0 6080.0 SO:0001583 missense AB011131 CCDS47630.1, CCDS47631.1 7q11.23-q21.3 2013-01-07 2013-01-07 ENSG00000186472 ENSG00000186472 27445.0 27445.0 13406.0 protein-coding gene gene with protein product """aczonin""" 604918.0 """piccolo (presynaptic cytomatrix protein)""" 8900486, 9628581 Standard NM_014510 NM_014510 Approved KIAA0559, DKFZp779G1236, ACZ uc003uhx.2 Q9Y6V0 OTTHUMG00000154853 ENST00000333891.9:c.9541G>C 7.__UNKNOWN__:g.82580363C>G ENSP00000334319:p.Val3181Leu __UNKNOWN__ CCDS47630.1 . . . . . . . . . . C 7.870 0.727851 0.15507 . . ENSG00000186472 ENST00000431819;ENST00000333891;ENST00000423517 T;T 0.16073 2.37;2.37 5.57 3.47 0.39725 . . . . . T 0.10594 0.0259 N 0.21373 0.66 0.80722 D 1 B;B;B 0.10296 0.001;0.003;0.003 B;B;B 0.09377 0.003;0.003;0.004 T 0.10245 -1.0638 9 0.87932 D 0 . 5.0744 0.14622 0.0:0.6085:0.226:0.1655 . 3112;3181;3181 Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6 PCLO_HUMAN;.;. L 3112;3181;3181 ENSP00000334319:V3181L;ENSP00000388393:V3181L ENSP00000334319:V3181L V - 1 0 PCLO 82418299 0.928000 0.31464 0.996000 0.52242 0.896000 0.52359 2.243000 0.43115 1.321000 0.45227 0.467000 0.42956 GTT PCLO-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337368.5 - ENST00000333891.9 Missense_Mutation SNP PCPG-TCGA-S7-A7X1-Normal-SM-5EMLZ ADH1B 125 broad.mit.edu 37 4 100234996 100234996 + Silent SNP G G A TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr4:100234996G>A ENST00000305046.8 - 6.0 877 c.810C>T c.(808-810)atC>atT p.I270I ADH1B_ENST00000394887.3_Silent_p.I230I P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 270.0 ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270) 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) 33.0 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Ethanol(DB00898)|Fomepizole(DB01213) CAAGCCGACCGATGACTTCAA 0.438 0 210.0 211.0 210.0 4 100234996.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF153821 CCDS34033.1, CCDS68761.1 4q23 2008-02-05 2007-11-06 ENSG00000196616 ENSG00000196616 125.0 125.0 1.1.1.1 """Alcohol dehydrogenases""" 250.0 protein-coding gene gene with protein product 103720.0 ADH2 3006456 Standard NM_000668 NM_000668 Approved uc003hus.4 P00325 OTTHUMG00000161413 ENST00000305046.8:c.810C>T 4.__UNKNOWN__:g.100234996G>A A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7 __UNKNOWN__ CCDS34033.1 ADH1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000364853.1 - ENST00000305046.8 Silent SNP PCPG-TCGA-S7-A7X1-Normal-SM-5EMLZ AVP 551 broad.mit.edu 37 20 3065235 3065235 + Missense_Mutation SNP C C T TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr20:3065235C>T ENST00000380293.3 - 1.0 135 c.86G>A c.(85-87)gGc>gAc p.G29D NM_000490.4 NP_000481.2 P01185 NEU2_HUMAN arginine vasopressin 29.0 cell-cell signaling (GO:0007267)|ERK1 and ERK2 cascade (GO:0070371)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|hyperosmotic salinity response (GO:0042538)|locomotory behavior (GO:0007626)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of female receptivity (GO:0007621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of renal sodium excretion (GO:0035813)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|signal transduction (GO:0007165)|social behavior (GO:0035176)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)|water transport (GO:0006833) cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141) cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|neuropeptide hormone activity (GO:0005184)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|signal transducer activity (GO:0004871)|V1A vasopressin receptor binding (GO:0031894) central_nervous_system(1)|prostate(1)|skin(1) 3.0 COAD - Colon adenocarcinoma(99;0.00643) GGCCCTCTTGCCGCCCCTCGG 0.652 0 117.0 109.0 111.0 20 3065235.0 2203.0 4300.0 6503.0 SO:0001583 missense M25647 CCDS13045.1 20p13 2014-09-17 2008-07-31 ENSG00000101200 ENSG00000101200 551.0 551.0 """Endogenous ligands""" 894.0 protein-coding gene gene with protein product """antidiuretic hormone"", ""neurophysin II"", ""diabetes insipidus"", ""neurohypophyseal"", ""prepro-AVP-NP II"", ""prepro-arginine-vasopressin-neurophysin II""" 192340.0 ARVP 1840604 Standard NM_000490 NM_000490 Approved ADH uc002whu.3 P01185 OTTHUMG00000031733 ENST00000380293.3:c.86G>A 20.__UNKNOWN__:g.3065235C>T ENSP00000369647:p.Gly29Asp A0AV35|O14935 __UNKNOWN__ CCDS13045.1 . . . . . . . . . . C 36 5.601157 0.96614 . . ENSG00000101200 ENST00000380293 D 0.99167 -5.51 5.46 5.46 0.80206 . 0.000000 0.85682 D 0.000000 D 0.99441 0.9802 M 0.89601 3.045 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.98766 1.0726 10 0.87932 D 0 . 19.3138 0.94204 0.0:1.0:0.0:0.0 . 29 P01185 NEU2_HUMAN D 29 ENSP00000369647:G29D ENSP00000369647:G29D G - 2 0 AVP 3013235 1.000000 0.71417 0.998000 0.56505 0.974000 0.67602 7.571000 0.82399 2.561000 0.86390 0.655000 0.94253 GGC AVP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077713.2 - ENST00000380293.3 Missense_Mutation SNP PCPG-TCGA-S7-A7X1-Normal-SM-5EMLZ PET112 5188 broad.mit.edu 37 4 152682119 152682119 + Silent SNP G G A TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr4:152682119G>A ENST00000515812.1 - 1.0 32 c.16C>T c.(16-18)Ctg>Ttg p.L6L PET112_ENST00000263985.6_Silent_p.L6L|PET112_ENST00000512306.1_Silent_p.L6L|PET112_ENST00000508611.1_Silent_p.L6L breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23.0 CCCCAGCGCAGCATGGGCGCC 0.602 0 20.0 25.0 23.0 4 152682119.0 2199.0 4296.0 6495.0 SO:0001819 synonymous_variant ENST00000515812.1:c.16C>T 4.__UNKNOWN__:g.152682119G>A __UNKNOWN__ PET112-002 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000365672.1 - ENST00000515812.1 Silent SNP PCPG-TCGA-S7-A7X1-Normal-SM-5EMLZ MUC16 94025 broad.mit.edu 37 19 9069495 9069495 + Missense_Mutation SNP G G T TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr19:9069495G>T ENST00000397910.4 - 3.0 18154 c.17951C>A c.(17950-17952)cCa>cAa p.P5984Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5986.0 Thr-rich. cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982) 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) 590.0 ACTTGCACTTGGTAAGGAGCT 0.483 0 150.0 145.0 146.0 19 9069495.0 1954.0 4144.0 6098.0 SO:0001583 missense AF414442 CCDS54212.1 19p13.2 2008-02-05 2006-03-14 ENSG00000181143 94025.0 94025.0 """Mucins""" 15582.0 protein-coding gene gene with protein product 606154.0 11369781 Standard NM_024690 XM_006722941 Approved CA125, FLJ14303 uc002mkp.3 Q8WXI7 ENST00000397910.4:c.17951C>A 19.__UNKNOWN__:g.9069495G>T ENSP00000381008:p.Pro5984Gln Q6ZQW5|Q96RK2 __UNKNOWN__ CCDS54212.1 . . . . . . . . . . g 2.162 -0.392048 0.04932 . . ENSG00000181143 ENST00000397910 T 0.25912 1.77 0.9 -0.489 0.12052 . . . . . T 0.11452 0.0279 N 0.19112 0.55 . . . P 0.46020 0.871 B 0.34824 0.19 T 0.18777 -1.0326 8 0.87932 D 0 . 3.58 0.07949 0.305:0.0:0.695:0.0 . 5984 B5ME49 . Q 5984 ENSP00000381008:P5984Q ENSP00000381008:P5984Q P - 2 0 MUC16 8930495 0.001000 0.12720 0.000000 0.03702 0.167000 0.22549 -0.068000 0.11561 -0.071000 0.12886 0.281000 0.19383 CCA MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402806.1 - ENST00000397910.4 Missense_Mutation SNP PCPG-TCGA-S7-A7X1-Normal-SM-5EMLZ ADH6 130 broad.mit.edu 37 4 100126142 100126143 + Missense_Mutation DNP GT GT AG TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr4:100126142_100126143GT>AG ENST00000394899.2 - 8.0 1135_1136 c.1042_1043AC>CT c.(1042-1044)ACt>CTt p.T348L RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.T139L|ADH6_ENST00000237653.7_Missense_Mutation_p.T348L|ADH6_ENST00000394897.1_3'UTR NM_001102470.1 NP_001095940 P28332 ADH6_HUMAN alcohol dehydrogenase 6 (class V) 348.0 ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270) breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20.0 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048) CAGAGTATGAGTAATTAGTGGA 0.356 0 SO:0001583 missense AK092768 CCDS3647.1, CCDS43255.1 4q23 2008-02-05 ENSG00000172955 ENSG00000172955 130.0 130.0 1.1.1.1 """Alcohol dehydrogenases""" 255.0 protein-coding gene gene with protein product 103735.0 1881901 Standard NM_000672 NM_000672 Approved ADH-5 uc003huo.2 P28332 OTTHUMG00000131024 ENST00000394899.2:c.1042_1043delinsAG 4.__UNKNOWN__:g.100126142_100126143delinsAG ENSP00000378359:p.Thr348Leu B3KS45|Q58F53 __UNKNOWN__ CCDS43255.1 ADH6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253663.2 - ENST00000394899.2 Missense_Mutation DNP PCPG-TCGA-S7-A7X1-Normal-SM-5EMLZ PKNOX2 63876 broad.mit.edu 37 11 125301206 125301206 + Missense_Mutation SNP A A T TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr11:125301206A>T ENST00000298282.9 + 13.0 1608 c.1337A>T c.(1336-1338)gAg>gTg p.E446V PKNOX2_ENST00000542175.1_Missense_Mutation_p.E382V|PKNOX2_ENST00000530517.1_3'UTR NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 446.0 Asp/Glu-rich (acidic). regulation of transcription from RNA polymerase II promoter (GO:0006357) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29.0 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) gaggaggaggaggagctggag 0.582 0 50.0 56.0 54.0 11 125301206.0 2182.0 4264.0 6446.0 SO:0001583 missense AK023136 CCDS41730.1 11q24.2 2014-09-04 ENSG00000165495 ENSG00000165495 63876.0 63876.0 """Homeoboxes / TALE class""" 16714.0 protein-coding gene gene with protein product 613066.0 11549286 Standard NM_022062 Approved uc001qbu.3 Q96KN3 OTTHUMG00000165884 ENST00000298282.9:c.1337A>T 11.__UNKNOWN__:g.125301206A>T ENSP00000298282:p.Glu446Val B7Z5I5|F5GZ15|Q63HL6|Q86XD1 __UNKNOWN__ CCDS41730.1 . . . . . . . . . . A 12.68 2.009470 0.35415 . . ENSG00000165495 ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175 D;D;D;D 0.85773 -2.03;-2.03;-2.03;-2.01 4.56 4.56 0.56223 . 0.066868 0.64402 D 0.000014 T 0.71108 0.3301 N 0.08118 0 0.48511 D 0.999665 B;B;B 0.33694 0.13;0.421;0.079 B;B;B 0.30029 0.037;0.11;0.017 T 0.75496 -0.3297 10 0.62326 D 0.03 -16.2343 14.0378 0.64656 1.0:0.0:0.0:0.0 . 382;417;446 F5GZ15;B7Z3G7;Q96KN3 .;.;PKNX2_HUMAN V 417;417;446;382 ENSP00000434732:E417V;ENSP00000433971:E417V;ENSP00000298282:E446V;ENSP00000441470:E382V ENSP00000298282:E446V E + 2 0 PKNOX2 124806416 0.998000 0.40836 1.000000 0.80357 0.672000 0.39443 3.279000 0.51670 2.037000 0.60232 0.533000 0.62120 GAG PKNOX2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000386866.3 + ENST00000298282.9 Missense_Mutation SNP PCPG-TCGA-S7-A7X1-Normal-SM-5EMLZ TRIM3 10612 broad.mit.edu 37 11 6478231 6478231 + Missense_Mutation SNP C C T rs145197784 TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr11:6478231C>T ENST00000525074.1 - 6.0 1119 c.725G>A c.(724-726)cGc>cAc p.R242H TRIM3_ENST00000536344.1_Missense_Mutation_p.R123H|TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000359518.3_Missense_Mutation_p.R242H|TRIM3_ENST00000345851.3_Missense_Mutation_p.R242H NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 242.0 nervous system development (GO:0007399)|protein transport (GO:0015031) cytoplasm (GO:0005737)|endosome (GO:0005768) protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27.0 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) CTGACCCTGGCGCAGTGTGTC 0.607 Melanoma(6;5 510 1540 25169 29084) 0 C HIS/ARG,HIS/ARG 0,4402 0,0,2201 56.0 60.0 58.0 725,725 4.2 1.0 11 dbSNP_134 58.0 1,8591 1.2+/-3.3 0,1,4295 no missense,missense TRIM3 NM_006458.2,NM_033278.2 29,29 0,1,6496 TT,TC,CC 0.0116,0.0,0.0077 benign,benign 242/745,242/745 6478231.0 1,12993 2201.0 4296.0 6497.0 SO:0001583 missense AF045239 CCDS7764.1, CCDS58115.1 11p15.5 2013-01-09 2011-01-25 2001-11-23 ENSG00000110171 ENSG00000110171 10612.0 10612.0 """Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers""" 10064.0 protein-coding gene gene with protein product """ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3""" 605493.0 """tripartite motif-containing 3""" RNF22 10391919 Standard NM_006458 NM_006458 Approved HAC1, BERP, RNF97 uc009yfd.3 O75382 OTTHUMG00000133405 ENST00000525074.1:c.725G>A 11.__UNKNOWN__:g.6478231C>T ENSP00000433102:p.Arg242His B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039 __UNKNOWN__ CCDS7764.1 . . . . . . . . . . C 11.83 1.754983 0.31046 0.0 1.16E-4 ENSG00000110171 ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000359518;ENST00000536344;ENST00000528227 T;T;T;D;T 0.83419 -0.64;-0.64;-0.64;-1.72;0.97 5.08 4.16 0.48862 B-box, C-terminal (1); 0.314680 0.35151 N 0.003413 T 0.68513 0.3009 N 0.14661 0.345 0.33841 D 0.631427 B;B;B 0.26318 0.008;0.146;0.017 B;B;B 0.15052 0.005;0.007;0.012 T 0.72414 -0.4301 10 0.49607 T 0.09 -18.4653 11.6717 0.51406 0.3216:0.6784:0.0:0.0 . 123;123;242 F5H2Q8;D3DQT4;O75382 .;.;TRIM3_HUMAN H 242;242;242;242;231;242;123;242 ENSP00000433102:R242H;ENSP00000340797:R242H;ENSP00000352508:R242H;ENSP00000445460:R123H;ENSP00000433070:R242H ENSP00000337094:R231H R - 2 0 TRIM3 6434807 0.548000 0.26473 0.999000 0.59377 0.985000 0.73830 1.225000 0.32551 1.106000 0.41623 0.563000 0.77884 CGC TRIM3-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000384224.2 - ENST00000525074.1 Missense_Mutation SNP PCPG-TCGA-S7-A7X1-Normal-SM-5EMLZ KIAA1217 56243 broad.mit.edu 37 10 24762772 24762772 + Missense_Mutation SNP G G A rs147538283 TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr10:24762772G>A ENST00000307544.6 + 2.0 948 c.616G>A c.(616-618)Gct>Act p.A206T KIAA1217_ENST00000376451.2_Missense_Mutation_p.A206T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A206T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.A488T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A488T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A408T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A488T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A206T|KIAA1217_ENST00000430453.2_Missense_Mutation_p.A409T NM_001282769.1 NP_001269698.1 Q5T5P2 SKT_HUMAN KIAA1217 488.0 embryonic skeletal system development (GO:0048706) cytoplasm (GO:0005737) 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) 70.0 AGACATGCACGCTCACTATAA 0.557 0 G THR/ALA,THR/ALA,THR/ALA 1,4405 2.1+/-5.4 0,1,2202 103.0 89.0 94.0 1222,1462,1462 3.8 0.0 10 dbSNP_134 94.0 1,8599 1.2+/-3.3 0,1,4299 no missense,missense,missense KIAA1217 NM_001098500.1,NM_001098501.1,NM_019590.3 58,58,58 0,2,6501 AA,AG,GG 0.0116,0.0227,0.0154 possibly-damaging,possibly-damaging,possibly-damaging 408/1265,488/1310,488/1944 24762772.0 2,13004 2203.0 4300.0 6503.0 SO:0001583 missense BX640796 CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1 10p12.31 2009-09-16 ENSG00000120549 ENSG00000120549 56243.0 56243.0 25428.0 protein-coding gene gene with protein product """sickle tail""" 10574462 Standard NM_019590 XM_005252500 Approved DKFZP761L0424, SKT uc001iru.4 Q5T5P2 OTTHUMG00000017824 ENST00000307544.6:c.616G>A 10.__UNKNOWN__:g.24762772G>A ENSP00000302343:p.Ala206Thr A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3 __UNKNOWN__ . . . . . . . . . . G 4.364 0.067145 0.08388 2.27E-4 1.16E-4 ENSG00000120549 ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446 T;T;T;T;T;T;T;T;T;T;T 0.51325 0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71 5.65 3.77 0.43336 . 0.691975 0.15043 N 0.283730 T 0.41650 0.1168 L 0.40543 1.245 0.09310 N 1 B;B;B;B;P;B;D;B 0.54047 0.17;0.022;0.17;0.046;0.514;0.17;0.964;0.068 B;B;B;B;B;B;P;B 0.45681 0.03;0.013;0.03;0.03;0.045;0.045;0.49;0.007 T 0.14117 -1.0484 10 0.22109 T 0.4 . 11.5658 0.50805 0.0857:0.5139:0.4004:0.0 . 488;488;206;206;206;206;488;488 Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2 .;.;.;.;.;.;SKT_HUMAN;. T 408;488;488;206;488;488;338;409;206;206;206;206;206 ENSP00000365645:A408T;ENSP00000365639:A488T;ENSP00000392625:A488T;ENSP00000365637:A488T;ENSP00000365635:A488T;ENSP00000404798:A338T;ENSP00000389680:A409T;ENSP00000302343:A206T;ENSP00000379722:A206T;ENSP00000365634:A206T;ENSP00000379723:A206T ENSP00000302343:A206T A + 1 0 KIAA1217 24802778 0.706000 0.27856 0.008000 0.14137 0.026000 0.11368 1.046000 0.30354 0.658000 0.30925 0.655000 0.94253 GCT KIAA1217-001 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000047220.2 + ENST00000307544.6 Missense_Mutation SNP PCPG-TCGA-S7-A7X1-Normal-SM-5EMLZ EMP3 2014 bcgsc.ca 37 19 48833672 48833672 + Missense_Mutation SNP T T C TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr19:48833672T>C ENST00000270221.6 + 5.0 738 c.437T>C c.(436-438)tTc>tCc p.F146S EMP3_ENST00000597279.1_Missense_Mutation_p.F146S|EMP3_ENST00000596315.1_Missense_Mutation_p.F77S NM_001425.2 NP_001416.1 P54852 EMP3_HUMAN epithelial membrane protein 3 146.0 cell growth (GO:0016049)|negative regulation of cell proliferation (GO:0008285) integral component of membrane (GO:0016021) lung(1) 1.0 all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) TGGGTGGCCTTCCCCCTCGCC 0.687 0 53.0 51.0 52.0 19 48833672.0 2203.0 4300.0 6503.0 SO:0001583 missense U52101 CCDS12715.1 19q13.3 2008-07-16 ENSG00000142227 2014.0 2014.0 3335.0 protein-coding gene gene with protein product 602335 8996089, 10331954 Standard NM_001425 NM_001425 Approved YMP uc002piv.2 P54852 ENST00000270221.6:c.437T>C 19.__UNKNOWN__:g.48833672T>C ENSP00000270221:p.Phe146Ser Q6FH01 __UNKNOWN__ CCDS12715.1 . . . . . . . . . . T 16.42 3.118044 0.56505 . . ENSG00000142227 ENST00000270221 D 0.90385 -2.66 4.52 3.49 0.39957 . 0.116358 0.56097 D 0.000024 D 0.91901 0.7436 M 0.70275 2.135 0.42476 D 0.992849 D 0.55172 0.97 P 0.53518 0.728 D 0.91477 0.5201 10 0.87932 D 0 . 9.8191 0.40871 0.1542:0.0:0.0:0.8458 . 146 P54852 EMP3_HUMAN S 146 ENSP00000270221:F146S ENSP00000270221:F146S F + 2 0 EMP3 53525484 1.000000 0.71417 1.000000 0.80357 0.266000 0.26442 5.280000 0.65603 0.848000 0.35191 -0.496000 0.04628 TTC EMP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465613.1 + ENST00000270221.6 Missense_Mutation SNP PCPG-TCGA-S7-A7X1-Normal-SM-5EMLZ CCDC37 348807 ucsc.edu 37 3 126138857 126138857 + Nonsense_Mutation SNP G G A TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr3:126138857G>A ENST00000352312.1 + 10.0 1047 c.948G>A c.(946-948)tgG>tgA p.W316* CCDC37_ENST00000393425.1_Nonsense_Mutation_p.W317*|CCDC37_ENST00000505024.1_Nonsense_Mutation_p.W317* NM_182628.2 NP_872434.2 Q494V2 CCD37_HUMAN coiled-coil domain containing 37 316.0 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23.0 GBM - Glioblastoma multiforme(114;0.166) GCTCCATGTGGGCCAAAGGTG 0.637 0 29.0 31.0 30.0 3 126138857.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AK097402 CCDS3037.1 3q21.2 2014-07-31 ENSG00000163885 ENSG00000163885 348807.0 348807.0 26842.0 protein-coding gene gene with protein product 23569216 Standard NM_182628 NM_182628 Approved FLJ40083, MIA1 uc003eiu.1 Q494V2 OTTHUMG00000162691 ENST00000352312.1:c.948G>A 3.__UNKNOWN__:g.126138857G>A ENSP00000344749:p.Trp316* D3DNA8|Q494V1|Q494V4|Q8N838 __UNKNOWN__ CCDS3037.1 . . . . . . . . . . G 15.24 2.775743 0.49786 . . ENSG00000163885 ENST00000352312;ENST00000393425;ENST00000505024 . . . 2.18 1.28 0.21552 . 0.932582 0.09129 N 0.844659 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.38643 T 0.18 -5.1129 6.0366 0.19710 0.0:0.0:0.6947:0.3053 . . . . X 316;317;317 . ENSP00000344749:W316X W + 3 0 CCDC37 127621547 0.071000 0.21146 0.036000 0.18154 0.002000 0.02628 1.134000 0.31442 0.454000 0.26884 -0.230000 0.12252 TGG CCDC37-001 KNOWN basic|appris_candidate|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000370099.4 + ENST00000352312.1 Nonsense_Mutation SNP PCPG-TCGA-S7-A7X1-Normal-SM-5EMLZ PLAT 5327 broad.mit.edu 37 8 42045067 42045068 + Missense_Mutation DNP CC CC GT TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr8:42045067_42045068CC>GT ENST00000524009.1 - 5.0 462 PLAT_ENST00000429089.2_Missense_Mutation_p.D130H|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.D84H|PLAT_ENST00000270189.6_Missense_Mutation_p.D130H|PLAT_ENST00000220809.4_Missense_Mutation_p.D130H P00750 TPA_HUMAN plasminogen activator, tissue blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249) apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202) serine-type endopeptidase activity (GO:0004252) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27.0 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013) ATGCCCTGGTCCTCGTAGCACG 0.639 0 SO:0001627 intron_variant CCDS6126.1, CCDS6127.1 8p11.21 2012-10-02 ENSG00000104368 ENSG00000104368 5327.0 5327.0 9051.0 protein-coding gene gene with protein product 173370.0 Standard NM_000930 NM_033011 Approved uc003xos.2 P00750 OTTHUMG00000164072 ENST00000524009.1:c.365_365delinsGT 8.__UNKNOWN__:g.42045067_42045068delinsGT A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1 __UNKNOWN__ PLAT-004 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000377104.1 - ENST00000524009.1 Intron DNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV ZNF845 91664 broad.mit.edu 37 19 53854724 53854724 + Missense_Mutation SNP A A G TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr19:53854724A>G ENST00000595091.1 + 5.0 1015 c.796A>G c.(796-798)Act>Gct p.T266A ZNF845_ENST00000458035.1_Missense_Mutation_p.T266A Q96IR2 ZN845_HUMAN zinc finger protein 845 266.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26.0 TAGATGTCACACTGGCAAGAA 0.388 0 103.0 85.0 90.0 19 53854724.0 692.0 1591.0 2283.0 SO:0001583 missense BC007307 CCDS46170.1 19q13.42 2013-01-08 ENSG00000213799 ENSG00000213799 91664.0 91664.0 """Zinc fingers, C2H2-type"", ""-""" 25112.0 protein-coding gene gene with protein product Standard XM_039908 NM_138374 Approved uc010ydv.1 Q96IR2 ENST00000595091.1:c.796A>G 19.__UNKNOWN__:g.53854724A>G ENSP00000470005:p.Thr266Ala __UNKNOWN__ CCDS46170.1 . . . . . . . . . . A 12.07 1.827114 0.32329 . . ENSG00000213799 ENST00000458035;ENST00000427984 T 0.26518 1.73 1.91 1.91 0.25777 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.31827 0.0809 M 0.73598 2.24 0.22240 N 0.999269 B 0.22276 0.067 B 0.31812 0.136 T 0.35674 -0.9779 9 0.59425 D 0.04 . 8.5551 0.33476 1.0:0.0:0.0:0.0 . 266 Q96IR2 ZN845_HUMAN A 266 ENSP00000388311:T266A ENSP00000412086:T266A T + 1 0 ZNF845 58546536 0.002000 0.14202 0.009000 0.14445 0.199000 0.23934 0.731000 0.26058 0.865000 0.35603 0.172000 0.16884 ACT ZNF845-001 KNOWN upstream_uORF|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464359.1 + ENST00000595091.1 Missense_Mutation SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV IL4R 3566 broad.mit.edu 37 16 27374978 27374978 + Missense_Mutation SNP G G T TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr16:27374978G>T ENST00000395762.2 + 11.0 2564 c.2305G>T c.(2305-2307)Gtt>Ttt p.V769F IL4R_ENST00000170630.2_Missense_Mutation_p.V769F|IL4R_ENST00000543915.2_Missense_Mutation_p.V769F|IL4R_ENST00000380922.3_Missense_Mutation_p.V754F NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 769.0 defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165) extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235) interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33.0 TCCAGGTGGGGTTCCACTGGA 0.637 0 33.0 37.0 36.0 16 27374978.0 2197.0 4300.0 6497.0 SO:0001583 missense X52425 CCDS10629.1, CCDS58441.1 16p12.1-p11.2 2008-05-14 ENSG00000077238 ENSG00000077238 3566.0 3566.0 """Interleukins and interleukin receptors"", ""CD molecules""" 6015.0 protein-coding gene gene with protein product 147781.0 1679753 Standard NM_000418 Approved CD124 uc010bxy.4 P24394 OTTHUMG00000097015 ENST00000395762.2:c.2305G>T 16.__UNKNOWN__:g.27374978G>T ENSP00000379111:p.Val769Phe B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188 __UNKNOWN__ CCDS10629.1 . . . . . . . . . . G 16.06 3.016350 0.54468 . . ENSG00000077238 ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630 T;T;T;T 0.12147 2.71;2.71;2.71;2.71 4.63 -7.34 0.01427 . 20.742600 0.00166 N 0.000001 T 0.10551 0.0258 L 0.51422 1.61 0.09310 N 1 P;P;P 0.41910 0.764;0.764;0.764 B;B;B 0.31245 0.126;0.126;0.126 T 0.42032 -0.9475 10 0.72032 D 0.01 -1.3257 7.6406 0.28292 0.4881:0.3725:0.1394:0.0 . 754;769;769 B4E076;B9EGC0;P24394 .;.;IL4RA_HUMAN F 769;769;754;769 ENSP00000379111:V769F;ENSP00000441667:V769F;ENSP00000370309:V754F;ENSP00000170630:V769F ENSP00000170630:V769F V + 1 0 IL4R 27282479 0.000000 0.05858 0.000000 0.03702 0.670000 0.39368 -0.514000 0.06298 -1.238000 0.02535 -0.229000 0.12294 GTT IL4R-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214104.4 + ENST00000395762.2 Missense_Mutation SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV LRP1 4035 broad.mit.edu 37 12 57589943 57589943 + Silent SNP C C T rs139174222 by1000genomes TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr12:57589943C>T ENST00000243077.3 + 55.0 9241 c.8775C>T c.(8773-8775)aaC>aaT p.N2925N NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2925.0 LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}. aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872) 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) 184.0 BRCA - Breast invasive adenocarcinoma(357;0.0103) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGCTCTGCAACGGCCAGGATG 0.637 C 1.0 0.0005 0.002 2184.0 1.0 , , 0.0003 0.0005 0.9547 LOWCOV,EXOME 0.0005 SNP 0 C 0,4406 0,0,2203 64.0 58.0 60.0 8775 -7.9 0.2 12 dbSNP_134 60.0 2,8598 2.2+/-6.3 0,2,4298 no coding-synonymous LRP1 NM_002332.2 0,2,6501 TT,TC,CC 0.0233,0.0,0.0154 2925/4545 57589943.0 2,13004 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X13916 CCDS8932.1 12q13.3 2013-05-28 2010-01-26 ENSG00000123384 ENSG00000123384 4035.0 4035.0 """CD molecules"", ""Low density lipoprotein receptors""" 6692.0 protein-coding gene gene with protein product 107770.0 """alpha-2-macroglobulin receptor""" APR, A2MR 2548950 Standard NM_002332 NM_002332 Approved LRP, CD91, LRP1A, APOER uc001snd.3 Q07954 OTTHUMG00000044412 ENST00000243077.3:c.8775C>T 12.__UNKNOWN__:g.57589943C>T Q2PP12|Q86SW0|Q8IVG8 __UNKNOWN__ CCDS8932.1 LRP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000412772.2 + ENST00000243077.3 Silent SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV POLA1 5422 broad.mit.edu 37 X 24761358 24761358 + Silent SNP T T C TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chrX:24761358T>C ENST00000379059.3 + 23.0 2475 c.2460T>C c.(2458-2460)gaT>gaC p.D820D POLA1_ENST00000379068.3_Silent_p.D826D NM_016937.3 NP_058633.2 P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 820.0 cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032) alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) 3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11.0 Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280) GAGATGAAGATGAAGAAATTG 0.378 0 96.0 90.0 92.0 X 24761358.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS14214.1 Xp22.1-p21.3 2014-01-30 2008-08-07 2006-09-26 ENSG00000101868 ENSG00000101868 5422.0 5422.0 2.7.7.7 """DNA polymerases""" 9173.0 protein-coding gene gene with protein product 312040.0 """polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)""" POLA, NSX 1689958 Standard NM_016937 NM_016937 Approved p180 uc004dbl.3 P09884 OTTHUMG00000021277 ENST00000379059.3:c.2460T>C X.__UNKNOWN__:g.24761358T>C Q86UQ7 __UNKNOWN__ CCDS14214.1 POLA1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000056111.1 + ENST00000379059.3 Silent SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV TRIM38 10475 broad.mit.edu 37 6 25966899 25966899 + Missense_Mutation SNP A A C TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr6:25966899A>C ENST00000357085.3 + 3.0 625 c.149A>C c.(148-150)aAg>aCg p.K50T TRIM38_ENST00000349458.3_Missense_Mutation_p.K50T NM_006355.3 NP_006346.1 O00635 TRI38_HUMAN tripartite motif containing 38 50.0 negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165) intracellular (GO:0005622) signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 23.0 CCAAGCCAAAAGCAACTGAGG 0.507 0 87.0 84.0 85.0 6 25966899.0 2203.0 4300.0 6503.0 SO:0001583 missense U90547 CCDS4568.1 6p21.3 2011-04-20 2011-01-25 2002-06-07 ENSG00000112343 ENSG00000112343 10475.0 10475.0 """Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers""" 10059.0 protein-coding gene gene with protein product """ring finger protein 15"", ""tripartite motif-containing 38""" RNF15 Standard XR_241880 Approved RORET uc003nfm.4 O00635 OTTHUMG00000014414 ENST00000357085.3:c.149A>C 6.__UNKNOWN__:g.25966899A>C ENSP00000349596:p.Lys50Thr B2R862 __UNKNOWN__ CCDS4568.1 . . . . . . . . . . a 0.093 -1.163495 0.01673 . . ENSG00000112343 ENST00000540262;ENST00000349458;ENST00000357085 T;T;T 0.08008 3.14;3.14;3.14 3.09 -6.19 0.02078 Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1); 7.995230 0.00166 N 0.000000 T 0.01189 0.0039 L 0.29908 0.895 0.09310 N 1 B;B 0.22983 0.078;0.078 B;B 0.25614 0.062;0.062 T 0.40831 -0.9542 10 0.13853 T 0.58 . 2.3194 0.04207 0.261:0.432:0.1128:0.1942 . 50;50 B2R862;O00635 .;TRI38_HUMAN T 50 ENSP00000443976:K50T;ENSP00000230099:K50T;ENSP00000349596:K50T ENSP00000230099:K50T K + 2 0 TRIM38 26074878 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -3.956000 0.00326 -2.627000 0.00436 0.477000 0.44152 AAG TRIM38-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040076.2 + ENST00000357085.3 Missense_Mutation SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV FAM187B 148109 broad.mit.edu 37 19 35719389 35719389 + Missense_Mutation SNP G G C TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr19:35719389G>C ENST00000324675.3 - 1.0 243 c.195C>G c.(193-195)agC>agG p.S65R NM_152481.1 NP_689694.1 Q17R55 F187B_HUMAN family with sequence similarity 187, member B 65.0 integral component of membrane (GO:0016021) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 9.0 TATTGGTGAGGCTGGTGAGCC 0.507 0 58.0 60.0 59.0 19 35719389.0 2203.0 4300.0 6503.0 SO:0001583 missense AK098526 CCDS12448.1 19q13.12 2008-10-16 2008-10-16 2008-10-16 ENSG00000177558 ENSG00000177558 148109.0 148109.0 26366.0 protein-coding gene gene with protein product """transmembrane protein 162""" TMEM162 Standard NM_152481 NM_152481 Approved FLJ25660 uc002nyk.1 Q17R55 OTTHUMG00000164450 ENST00000324675.3:c.195C>G 19.__UNKNOWN__:g.35719389G>C ENSP00000323355:p.Ser65Arg Q8N7G6 __UNKNOWN__ CCDS12448.1 . . . . . . . . . . G 1.628 -0.519733 0.04171 . . ENSG00000177558 ENST00000324675 T 0.22743 1.94 3.97 0.628 0.17681 Immunoglobulin-like fold (1); 3.059060 0.00827 N 0.001620 T 0.10594 0.0259 N 0.08118 0 0.09310 N 1 B 0.34241 0.444 B 0.32149 0.141 T 0.13495 -1.0507 10 0.28530 T 0.3 -3.4383 3.3773 0.07242 0.2196:0.0:0.5628:0.2176 . 65 Q17R55 F187B_HUMAN R 65 ENSP00000323355:S65R ENSP00000323355:S65R S - 3 2 FAM187B 40411229 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.067000 0.11579 0.237000 0.21200 -0.251000 0.11542 AGC FAM187B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378854.1 - ENST00000324675.3 Missense_Mutation SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV FMOD 2331 broad.mit.edu 37 1 203316735 203316735 + Missense_Mutation SNP G G A TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr1:203316735G>A ENST00000354955.4 - 2.0 1127 c.664C>T c.(664-666)Ctc>Ttc p.L222F FMOD_ENST00000493296.1_Intron NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 222.0 carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181) extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578) breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17.0 BRCA - Breast invasive adenocarcinoma(75;0.171) AGTGACCGGAGGCCCCTCATG 0.567 0 94.0 92.0 93.0 1 203316735.0 2203.0 4300.0 6503.0 SO:0001583 missense U05291 CCDS30976.1 1q32 2008-02-05 ENSG00000122176 ENSG00000122176 2331.0 2331.0 """Proteoglycans / Extracellular Matrix : Small leucine-rich repeats""" 3774.0 protein-coding gene gene with protein product """fibromodulin proteoglycan""" 600245.0 7851907 Standard NM_002023 NM_002023 Approved SLRR2E uc001gzr.3 Q06828 OTTHUMG00000035910 ENST00000354955.4:c.664C>T 1.__UNKNOWN__:g.203316735G>A ENSP00000347041:p.Leu222Phe Q15331|Q8IV47 __UNKNOWN__ CCDS30976.1 . . . . . . . . . . G 17.70 3.453974 0.63290 . . ENSG00000122176 ENST00000435105;ENST00000354955 T 0.71698 -0.59 5.18 5.18 0.71444 . 0.000000 0.85682 D 0.000000 T 0.81475 0.4830 M 0.80508 2.5 0.58432 D 0.999996 D 0.67145 0.996 P 0.61477 0.889 D 0.83844 0.0259 10 0.87932 D 0 -14.4651 10.8507 0.46769 0.0867:0.0:0.9133:0.0 . 222 Q06828 FMOD_HUMAN F 209;222 ENSP00000347041:L222F ENSP00000347041:L222F L - 1 0 FMOD 201583358 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 2.863000 0.48396 2.414000 0.81942 0.655000 0.94253 CTC FMOD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087472.1 - ENST00000354955.4 Missense_Mutation SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV POLN 353497 broad.mit.edu 37 4 2129863 2129863 + Silent SNP T T C TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr4:2129863T>C ENST00000511885.2 - 19.0 2312 c.1959A>G c.(1957-1959)gtA>gtG p.V653V POLN_ENST00000382865.1_Silent_p.V653V Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 653.0 double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985) nucleus (GO:0005634) cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887) kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28.0 OV - Ovarian serous cystadenocarcinoma(23;0.0955) GAGTAGAAAATACATCATCTC 0.368 DNA polymerases (catalytic subunits) 0 74.0 73.0 73.0 4 2129863.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF044578 CCDS3360.1 4p16.3 2012-05-18 ENSG00000130997 ENSG00000130997 353497.0 353497.0 """DNA polymerases""" 18870.0 protein-coding gene gene with protein product 610887.0 12794064 Standard NM_181808 NM_181808 Approved uc003ger.2 Q7Z5Q5 OTTHUMG00000090081 ENST00000511885.2:c.1959A>G 4.__UNKNOWN__:g.2129863T>C A2A336|B4E158|Q4TTW4|Q6ZNF4 __UNKNOWN__ CCDS3360.1 . . . . . . . . . . T 10.17 1.275758 0.23307 . . ENSG00000130997 ENST00000511098 . . . 5.19 -9.85 0.00476 . . . . . T 0.48021 0.1477 . . . 0.58432 D 0.999993 . . . . . . T 0.58907 -0.7553 4 . . . -18.8352 10.1676 0.42890 0.0:0.5005:0.3452:0.1543 . . . . C 286 . . Y - 2 0 POLN 2099661 0.002000 0.14202 0.883000 0.34634 0.993000 0.82548 -3.097000 0.00606 -1.324000 0.02272 -0.408000 0.06270 TAT POLN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000205684.2 - ENST00000511885.2 Silent SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV SORCS3 22986 broad.mit.edu 37 10 106976779 106976779 + Missense_Mutation SNP G G A TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr10:106976779G>A ENST00000369701.3 + 19.0 2860 c.2633G>A c.(2632-2634)gGc>gAc p.G878D SORCS3_ENST00000369699.4_Missense_Mutation_p.G164D NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 878.0 PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}. learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452) integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481) neuropeptide receptor activity (GO:0008188) 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) 131.0 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) ATCGAGGACGGCATCAAGCAC 0.517 NSCLC(116;1497 1690 7108 13108 14106) 0 181.0 137.0 152.0 10 106976779.0 2203.0 4300.0 6503.0 SO:0001583 missense AB028982 CCDS7558.1 10q23-q25 2006-04-12 ENSG00000156395 ENSG00000156395 22986.0 22986.0 16699.0 protein-coding gene gene with protein product 606285.0 11499680 Standard NM_014978 NM_014978 Approved KIAA1059, SORCS uc001kyi.1 Q9UPU3 OTTHUMG00000019011 ENST00000369701.3:c.2633G>A 10.__UNKNOWN__:g.106976779G>A ENSP00000358715:p.Gly878Asp Q5VXF9|Q9NQJ2 __UNKNOWN__ CCDS7558.1 . . . . . . . . . . G 29.7 5.025951 0.93518 . . ENSG00000156395 ENST00000369701;ENST00000369699 T;T 0.61859 0.07;0.07 5.87 5.87 0.94306 PKD domain (4); 0.000000 0.85682 D 0.000000 T 0.76926 0.4056 M 0.70275 2.135 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.73789 -0.3872 9 . . . . 20.5827 0.99408 0.0:0.0:1.0:0.0 . 878 Q9UPU3 SORC3_HUMAN D 878;164 ENSP00000358715:G878D;ENSP00000358713:G164D . G + 2 0 SORCS3 106966769 1.000000 0.71417 0.998000 0.56505 0.936000 0.57629 9.420000 0.97426 2.941000 0.99782 0.655000 0.94253 GGC SORCS3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050221.1 + ENST00000369701.3 Missense_Mutation SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV ALOX15 246 broad.mit.edu 37 17 4535050 4535050 + Nonsense_Mutation SNP C C A TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr17:4535050C>A ENST00000570836.1 - 15.0 1930 c.1834G>T c.(1834-1836)Gag>Tag p.E612* ALOX15_ENST00000293761.3_Nonsense_Mutation_p.E612*|ALOX15_ENST00000574640.1_Nonsense_Mutation_p.E573*|ALOX15_ENST00000545513.1_Nonsense_Mutation_p.E634* P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 612.0 Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}. apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060) cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886) arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20.0 READ - Rectum adenocarcinoma(115;0.0327) GAAAAATACTCCTCCTCATGC 0.577 0 101.0 102.0 101.0 17 4535050.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained M23892 CCDS11049.1 17p13.3 2010-09-24 ENSG00000161905 ENSG00000161905 246.0 246.0 1.13.11.33 """Arachidonate lipoxygenases""" 433.0 protein-coding gene gene with protein product 152392.0 1570320 Standard NM_001140 Approved 15-LOX-1 uc002fyh.3 P16050 OTTHUMG00000090746 ENST00000570836.1:c.1834G>T 17.__UNKNOWN__:g.4535050C>A ENSP00000458832:p.Glu612* A8K2P4|B7ZA11|Q8N6R7|Q99657 __UNKNOWN__ CCDS11049.1 . . . . . . . . . . C 34 5.301126 0.95601 . . ENSG00000161905 ENST00000293761;ENST00000545513 . . . 3.99 1.71 0.24356 . 0.243593 0.32473 N 0.006054 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.24483 T 0.36 -0.5896 9.8294 0.40932 0.0:0.5937:0.4063:0.0 . . . . X 612;634 . ENSP00000293761:E612X E - 1 0 ALOX15 4481799 0.985000 0.35326 0.998000 0.56505 0.994000 0.84299 -0.000000 0.12993 0.820000 0.34516 0.563000 0.77884 GAG ALOX15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207487.2 - ENST00000570836.1 Nonsense_Mutation SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV NIN 51199 broad.mit.edu 37 14 51190309 51190309 + Missense_Mutation SNP T T C TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr14:51190309T>C ENST00000530997.2 - 29.0 6273 c.6274A>G c.(6274-6276)Act>Gct p.T2092A NIN_ENST00000245441.5_Missense_Mutation_p.T2092A|NIN_ENST00000389868.3_3'UTR Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 0.0 centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454) centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922) calcium ion binding (GO:0005509)|GTP binding (GO:0005525) 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) 71.0 all_epithelial(31;0.00244)|Breast(41;0.127) CGCTGTTCAGTCACTTCCAGA 0.443 T PDGFRB MPD Dom yes 14 14q24 51199.0 ninein (GSK3B interacting protein) L 0 151.0 145.0 147.0 14 51190309.0 1897.0 4114.0 6011.0 SO:0001583 missense AF212162 CCDS32078.1, CCDS32079.1, CCDS32078.2 14q21-q22 2013-01-10 ENSG00000100503 ENSG00000100503 51199.0 51199.0 """EF-hand domain containing""" 14906.0 protein-coding gene gene with protein product 608684.0 11004522, 11162463 Standard NM_182946 NM_020921 Approved uc001wyi.3 Q8N4C6 OTTHUMG00000029569 ENST00000530997.2:c.6274A>G 14.__UNKNOWN__:g.51190309T>C ENSP00000436092:p.Thr2092Ala A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 27.5|27.5 4.837077|4.837077 0.91117|0.91117 .|. .|. ENSG00000100503|ENSG00000100503 ENST00000530997|ENST00000245441;ENST00000311149 .|T .|0.41065 .|1.01 5.92|5.92 5.92|5.92 0.95590|0.95590 .|. .|0.239380 .|0.40222 .|N .|0.001147 T|T 0.57799|0.57799 0.2078|0.2078 M|M 0.68317|0.68317 2.08|2.08 0.80722|0.80722 D|D 1|1 .|D .|0.61697 .|0.99 .|D .|0.63113 .|0.911 T|T 0.53704|0.53704 -0.8401|-0.8401 5|10 .|0.13108 .|T .|0.6 -9.965|-9.965 15.5442|15.5442 0.76081|0.76081 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. .|2092 .|Q8N4C6-7 .|. G|A 1582|2092;2075 .|ENSP00000245441:T2092A .|ENSP00000245441:T2092A D|T -|- 2|1 0|0 NIN|NIN 50260059|50260059 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.993000|0.993000 0.82548|0.82548 7.517000|7.517000 0.81783|0.81783 2.266000|2.266000 0.75297|0.75297 0.533000|0.533000 0.62120|0.62120 GAC|ACT NIN-017 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000395210.2 - ENST00000530997.2 Missense_Mutation SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV SLC17A6 57084 broad.mit.edu 37 11 22396360 22396360 + Silent SNP A A G TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr11:22396360A>G ENST00000263160.3 + 9.0 1538 c.1101A>G c.(1099-1101)ggA>ggG p.G367G NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 367.0 ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672) L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50.0 CTATTGGGGGACAAATTGCAG 0.388 0 226.0 222.0 224.0 11 22396360.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB032435 CCDS7856.1 11p14.3 2013-07-18 2013-07-18 ENSG00000091664 ENSG00000091664 57084.0 57084.0 """Solute carriers""" 16703.0 protein-coding gene gene with protein product """vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter""" 607563.0 """solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6""" 11306821 Standard NM_020346 NM_020346 Approved DNPI, VGLUT2 uc001mqk.3 Q9P2U8 OTTHUMG00000166063 ENST00000263160.3:c.1101A>G 11.__UNKNOWN__:g.22396360A>G A6NKS2 __UNKNOWN__ CCDS7856.1 SLC17A6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387671.1 + ENST00000263160.3 Silent SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV ATG9B 285973 broad.mit.edu 37 7 150713794 150713794 + Missense_Mutation SNP C C A TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr7:150713794C>A ENST00000494791.1 - 0.0 2479 ATG9B_ENST00000377974.2_Missense_Mutation_p.R801L|ATG9B_ENST00000444312.1_Missense_Mutation_p.R287L|ATG9B_ENST00000605938.1_3'UTR Q674R7 ATG9B_HUMAN autophagy related 9B autophagic vacuole assembly (GO:0000045) autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021) cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14.0 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTGGGCAATTCGGGAAATGGA 0.662 0 35.0 39.0 38.0 7 150713794.0 692.0 1591.0 2283.0 SO:0001623 5_prime_UTR_variant AK027791 7q36 2014-02-12 2012-06-06 2005-09-11 ENSG00000181652 ENSG00000181652 285973.0 285973.0 21899.0 protein-coding gene gene with protein product 612205.0 """nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)""" NOS3AS 15234981, 15755735 Standard NM_173681 NM_173681 Approved FLJ14885, APG9L2, SONE uc011kvc.2 Q674R7 OTTHUMG00000158634 ENST00000494791.1:c.-2092G>T 7.__UNKNOWN__:g.150713794C>A A1A5D3|Q6JRW5|Q8N8I8 __UNKNOWN__ . . . . . . . . . . C 13.92 2.381004 0.42207 . . ENSG00000248602 ENST00000377974;ENST00000444312 . . . 5.54 3.47 0.39725 . 0.544272 0.19726 N 0.107478 T 0.26919 0.0659 . . . . . . P 0.43024 0.798 B 0.37692 0.256 T 0.24799 -1.0150 7 0.33940 T 0.23 -17.2276 7.254 0.26166 0.1735:0.7294:0.0:0.0971 . 802 Q674R7 ATG9B_HUMAN L 801;287 . ENSP00000444232:R801L R - 2 0 AC010973.1 150344727 . . 0.957000 0.39632 0.907000 0.53573 . . 2.595000 0.87683 0.561000 0.74099 CGA ATG9B-001 KNOWN non_canonical_U12|basic processed_transcript protein_coding OTTHUMT00000351543.2 - ENST00000494791.1 5'UTR SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV TECRL 253017 broad.mit.edu 37 4 65188460 65188460 + Missense_Mutation SNP A A G TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr4:65188460A>G ENST00000381210.3 - 4.0 492 c.382T>C c.(382-384)Tcc>Ccc p.S128P TECRL_ENST00000507440.1_Missense_Mutation_p.S128P NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 128.0 lipid metabolic process (GO:0006629) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627) endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47.0 GTGACAATGGAGGAAGCTGCA 0.323 0 78.0 78.0 78.0 4 65188460.0 2203.0 4300.0 6503.0 SO:0001583 missense AL833108 CCDS33990.1 4q13.1 2009-07-21 ENSG00000205678 ENSG00000205678 253017.0 253017.0 27365.0 protein-coding gene gene with protein product """glycoprotein, synaptic 2-like""" 12477932 Standard NM_001010874 NM_001010874 Approved GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL uc003hcv.3 Q5HYJ1 OTTHUMG00000160680 ENST00000381210.3:c.382T>C 4.__UNKNOWN__:g.65188460A>G ENSP00000370607:p.Ser128Pro __UNKNOWN__ CCDS33990.1 . . . . . . . . . . A 15.05 2.716850 0.48622 . . ENSG00000205678 ENST00000507440;ENST00000381210;ENST00000509536 T;T;T 0.47869 0.83;0.83;0.83 5.78 5.78 0.91487 . 0.123068 0.56097 D 0.000025 T 0.67277 0.2876 M 0.74881 2.28 0.47659 D 0.999486 D;D 0.76494 0.999;0.995 D;D 0.83275 0.996;0.979 T 0.69316 -0.5177 10 0.51188 T 0.08 -1.2428 12.4839 0.55861 1.0:0.0:0.0:0.0 . 128;128 Q6IN47;Q5HYJ1 .;TECRL_HUMAN P 128 ENSP00000426043:S128P;ENSP00000370607:S128P;ENSP00000422497:S128P ENSP00000370607:S128P S - 1 0 TECRL 64871055 1.000000 0.71417 0.958000 0.39756 0.093000 0.18481 5.636000 0.67848 2.202000 0.70862 0.477000 0.44152 TCC TECRL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000361705.4 - ENST00000381210.3 Missense_Mutation SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV LPCAT3 10162 broad.mit.edu 37 12 7086308 7086308 + Nonstop_Mutation SNP T T G TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr12:7086308T>G ENST00000261407.4 - 12.0 1549 c.1464A>C c.(1462-1464)taA>taC p.*488Y LPCAT3_ENST00000535021.1_5'UTR NM_005768.5 NP_005759.4 Q6P1A2 MBOA5_HUMAN lysophosphatidylcholine acyltransferase 3 0.0 glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) 1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 17.0 GGGAAATGGATTATTCCATCT 0.368 0 63.0 68.0 66.0 12 7086308.0 2203.0 4300.0 6503.0 SO:0001578 stop_lost U72515 CCDS8572.1 12p13.31 2010-05-12 2008-06-24 2008-06-24 ENSG00000111684 ENSG00000111684 10162.0 10162.0 30244.0 protein-coding gene gene with protein product 611950.0 """O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5""" OACT5, MBOAT5 8723724, 9074930, 18195019 Standard NM_005768 NM_005768 Approved C3F, nessy uc001qsi.3 Q6P1A2 OTTHUMG00000168970 ENST00000261407.4:c.1464A>C 12.__UNKNOWN__:g.7086308T>G B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40 __UNKNOWN__ CCDS8572.1 . . . . . . . . . . T 2.998 -0.206735 0.06180 . . ENSG00000111684 ENST00000261407 . . . 4.77 3.63 0.41609 . . . . . . . . . . . 0.09310 N 1 . . . . . . . . . . . . . . 8.1826 0.31319 0.0:0.0903:0.0:0.9097 . . . . Y 488 . . X - 3 2 LPCAT3 6956569 0.940000 0.31905 0.403000 0.26384 0.226000 0.24999 1.552000 0.36244 0.863000 0.35553 0.459000 0.35465 TAA LPCAT3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401812.1 - ENST00000261407.4 Nonstop_Mutation SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV PTPN12 0 broad.mit.edu 37 7 77256458 77256458 + Missense_Mutation SNP G G A TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr7:77256458G>A ENST00000248594.6 + 13.0 1734 c.1462G>A c.(1462-1464)Ggt>Agt p.G488S PTPN12_ENST00000415482.2_Missense_Mutation_p.G369S|PTPN12_ENST00000435495.2_Missense_Mutation_p.G358S NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 488.0 protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102) non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124) breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39.0 TCTAAATGTCGGTGATACTTC 0.383 0 70.0 69.0 69.0 7 77256458.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS5592.1, CCDS47619.1, CCDS47620.1 7q11.23 2011-06-09 ENSG00000127947 ENSG00000127947 5782.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor""" 9645.0 protein-coding gene gene with protein product 600079.0 7509295 Standard NM_002835 Approved PTPG1, PTP-PEST uc003ugh.2 Q05209 OTTHUMG00000023501 ENST00000248594.6:c.1462G>A 7.__UNKNOWN__:g.77256458G>A ENSP00000248594:p.Gly488Ser A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4 __UNKNOWN__ CCDS5592.1 . . . . . . . . . . g 0.064 -1.216375 0.01542 . . ENSG00000127947 ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495 T;T;T 0.05925 3.96;3.37;3.37 5.92 0.738 0.18319 . 0.610150 0.17747 N 0.163343 T 0.02418 0.0074 N 0.03608 -0.345 0.09310 N 1 B 0.06786 0.001 B 0.01281 0.0 T 0.48536 -0.9027 10 0.10377 T 0.69 . 8.9549 0.35812 0.1963:0.192:0.6117:0.0 . 488 Q05209 PTN12_HUMAN S 488;369;369;358 ENSP00000248594:G488S;ENSP00000392429:G369S;ENSP00000397991:G358S ENSP00000248594:G488S G + 1 0 PTPN12 77094394 0.014000 0.17966 0.000000 0.03702 0.227000 0.25037 1.413000 0.34725 -0.342000 0.08363 -1.972000 0.00464 GGT PTPN12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253183.3 + ENST00000248594.6 Missense_Mutation SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV TNFAIP1 7126 broad.mit.edu 37 17 26671480 26671492 + Frame_Shift_Del DEL GCCACAAGCCGTA GCCACAAGCCGTA - TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr17:26671480_26671492delGCCACAAGCCGTA ENST00000544907.2 + 6.0 855_867 c.493_505delGCCACAAGCCGTA c.(493-507)gccacaagccgtagcfs p.ATSRS165fs TNFAIP1_ENST00000583213.1_3'UTR|TNFAIP1_ENST00000226225.2_Frame_Shift_Del_p.ATSRS269fs Q13829 BACD2_HUMAN tumor necrosis factor, alpha-induced protein 1 (endothelial) 269.0 apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149) Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730) GTP-Rho binding (GO:0017049) endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 12.0 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) CTTGTTGGAGGCCACAAGCCGTAGCCGCAGCCA 0.592 0 SO:0001589 frameshift_variant CCDS11227.1 17q22-q23 2013-01-09 ENSG00000109079 ENSG00000109079 7126.0 7126.0 """BTB/POZ domain containing""" 11894.0 protein-coding gene gene with protein product 191161.0 EDP1 2406243, 2233719 Standard NM_021137 NM_021137 Approved B61, B12, MGC2317, BTBD34 uc002hay.3 Q13829 OTTHUMG00000132501 ENST00000544907.2:c.493_505delGCCACAAGCCGTA 17.__UNKNOWN__:g.26671480_26671492delGCCACAAGCCGTA ENSP00000440749:p.Ala165fs B7Z6M4|Q5TZQ1 __UNKNOWN__ TNFAIP1-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000445681.1 + ENST00000544907.2 Frame_Shift_Del DEL PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV MAPKBP1 23005 bcgsc.ca 37 15 42110269 42110269 + Missense_Mutation SNP G G A TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr15:42110269G>A ENST00000457542.2 + 17.0 2253 c.1967G>A c.(1966-1968)gGc>gAc p.G656D MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G656D|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G495D|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G539D|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G662D NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 662.0 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) 56.0 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) GGTGAGGACGGCACACTCATT 0.532 0 106.0 109.0 108.0 15 42110269.0 2203.0 4300.0 6503.0 SO:0001583 missense AB011168 CCDS32201.1, CCDS45239.1, CCDS58359.1 15q15.1 2013-01-10 2008-01-30 ENSG00000137802 ENSG00000137802 23005.0 23005.0 """WD repeat domain containing""" 29536.0 protein-coding gene gene with protein product """mitogen activated protein kinase binding protein 1""" 9628581, 10471813 Standard NM_014994 NM_014994 Approved KIAA0596 uc001zok.4 O60336 OTTHUMG00000160227 ENST00000457542.2:c.1967G>A 15.__UNKNOWN__:g.42110269G>A ENSP00000397570:p.Gly656Asp A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9 __UNKNOWN__ CCDS32201.1 . . . . . . . . . . g 29.2 4.987463 0.93106 . . ENSG00000137802 ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566 T;T;T;T;T 0.45276 0.9;1.06;0.99;0.95;0.99 5.51 5.51 0.81932 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.000000 0.85682 D 0.000000 T 0.70263 0.3204 M 0.85373 2.75 0.80722 D 1 D;P;D;D;D 0.89917 1.0;0.951;1.0;1.0;1.0 D;D;D;D;D 0.97110 1.0;0.91;1.0;0.991;0.996 T 0.73754 -0.3883 10 0.56958 D 0.05 -22.9403 19.4093 0.94662 0.0:0.0:1.0:0.0 . 495;539;656;662;656 F8WC21;O60336-3;O60336-2;O60336;O60336-6 .;.;.;MABP1_HUMAN;. D 656;539;495;662;656 ENSP00000397570:G656D;ENSP00000221214:G539D;ENSP00000260357:G495D;ENSP00000393099:G662D;ENSP00000426154:G656D ENSP00000221214:G539D G + 2 0 MAPKBP1 39897561 1.000000 0.71417 1.000000 0.80357 0.765000 0.43378 7.844000 0.86867 2.574000 0.86865 0.563000 0.77884 GGC MAPKBP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359744.1 + ENST00000457542.2 Missense_Mutation SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV SMARCC1 6599 bcgsc.ca 37 3 47676716 47676716 + Silent SNP T T C TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr3:47676716T>C ENST00000254480.5 - 24.0 2729 c.2610A>G c.(2608-2610)gcA>gcG p.A870A SMARCC1_ENST00000425518.1_5'UTR NM_003074.3 NP_003065.3 Q92922 SMRC1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 870.0 Poly-Ala. ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713) breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33.0 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) GAGCAGCTGCTGCGGCTGTGG 0.448 0 90.0 91.0 91.0 3 47676716.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U66615 CCDS2758.1 3p21.31 2008-05-15 ENSG00000173473 ENSG00000173473 6599.0 6599.0 11104.0 protein-coding gene gene with protein product 601732 8804307 Standard NM_003074 Approved BAF155, SRG3, Rsc8, CRACC1 uc003crq.2 Q92922 OTTHUMG00000133519 ENST00000254480.5:c.2610A>G 3.__UNKNOWN__:g.47676716T>C Q17RS0|Q6P172|Q8IWH2 __UNKNOWN__ CCDS2758.1 SMARCC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257491.1 - ENST00000254480.5 Silent SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV TEKT5 146279 bcgsc.ca 37 16 10783166 10783166 + Silent SNP T T C TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr16:10783166T>C ENST00000283025.2 - 3.0 734 c.663A>G c.(661-663)ctA>ctG p.L221L NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 221.0 cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34.0 GGCAACATTTTAGCAAATCCA 0.433 0 90.0 87.0 88.0 16 10783166.0 2197.0 4300.0 6497.0 SO:0001819 synonymous_variant CCDS10542.1 16p13.13 2014-01-21 ENSG00000153060 ENSG00000153060 146279.0 146279.0 26554.0 protein-coding gene gene with protein product Standard NM_144674 NM_144674 Approved FLJ32871, CT149 uc002czz.1 Q96M29 OTTHUMG00000129750 ENST00000283025.2:c.663A>G 16.__UNKNOWN__:g.10783166T>C A1L3Z3 __UNKNOWN__ CCDS10542.1 TEKT5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251963.1 - ENST00000283025.2 Silent SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV DNAH10 196385 ucsc.edu 37 12 124343737 124343737 + Missense_Mutation SNP G G A TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr12:124343737G>A ENST00000409039.3 + 37.0 6342 c.6317G>A c.(6316-6318)cGc>cAc p.R2106H NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2106.0 AAA 2. {ECO:0000250}. microtubule-based movement (GO:0007018) cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) 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) 52.0 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) ATGTTAACCCGCCACACGACG 0.512 0 32.0 34.0 34.0 12 124343737.0 1890.0 4107.0 5997.0 SO:0001583 missense AJ132089 CCDS9255.2 12q24 2008-02-05 2006-09-04 ENSG00000197653 ENSG00000197653 196385.0 196385.0 """Axonemal dyneins""" 2941.0 protein-coding gene gene with protein product 605884 """dynein, axonemal, heavy polypeptide 10""" Standard NM_207437 Approved FLJ43808 uc001uft.4 Q8IVF4 OTTHUMG00000154477 ENST00000409039.3:c.6317G>A 12.__UNKNOWN__:g.124343737G>A ENSP00000386770:p.Arg2106His C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761 __UNKNOWN__ CCDS9255.2 . . . . . . . . . . G 24.7 4.565436 0.86439 . . ENSG00000197653 ENST00000409039 T 0.44482 0.92 5.44 4.55 0.56014 ATPase, AAA+ type, core (1); 0.000000 0.64402 U 0.000019 T 0.78278 0.4258 H 0.98901 4.365 0.45183 D 0.998192 D 0.89917 1.0 D 0.97110 1.0 D 0.86912 0.2061 10 0.87932 D 0 . 14.0989 0.65042 0.0724:0.0:0.9276:0.0 . 2106 Q8IVF4 DYH10_HUMAN H 2106 ENSP00000386770:R2106H ENSP00000386770:R2106H R + 2 0 DNAH10 122909690 1.000000 0.71417 0.891000 0.34965 0.855000 0.48748 7.910000 0.87451 1.284000 0.44531 0.563000 0.77884 CGC DNAH10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335420.3 + ENST00000409039.3 Missense_Mutation SNP PCPG-TCGA-S7-A7X2-Normal-SM-5EMMV APOB 338 broad.mit.edu 37 2 21229684 21229684 + Silent SNP G G T TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr2:21229684G>T ENST00000233242.1 - 26.0 10183 c.10056C>A c.(10054-10056)acC>acA p.T3352T NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 3352.0 artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379) actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361) cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543) 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) 305.0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTTCAGCATTGGTATTCAGTG 0.368 0 G 0,4406 0,0,2203 106.0 103.0 104.0 10056 2.6 1.0 2 104.0 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous APOB NM_000384.2 0,1,6502 TT,TG,GG 0.0116,0.0,0.0077 3352/4564 21229684.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant M14162 CCDS1703.1 2p24-p23 2013-05-29 2013-05-29 ENSG00000084674 ENSG00000084674 338.0 338.0 """Apolipoproteins""" 603.0 protein-coding gene gene with protein product 107730.0 """apolipoprotein B (including Ag(x) antigen)""" Standard NM_000384 Approved uc002red.3 P04114 OTTHUMG00000090785 ENST00000233242.1:c.10056C>A 2.__UNKNOWN__:g.21229684G>T O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0 __UNKNOWN__ CCDS1703.1 APOB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207571.1 - ENST00000233242.1 Silent SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 LCT 3938 broad.mit.edu 37 2 136564700 136564700 + Nonsense_Mutation SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr2:136564700G>A ENST00000264162.2 - 9.0 4181 c.4171C>T c.(4171-4173)Cag>Tag p.Q1391* NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1391.0 4 X approximate repeats. carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016) 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) 124.0 BRCA - Breast invasive adenocarcinoma(221;0.169) Vitamin C(DB00126) CTCCTCACCTGATATGCAGCA 0.572 0 109.0 88.0 95.0 2 136564700.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained X07994 CCDS2178.1 2q21 2014-09-17 ENSG00000115850 ENSG00000115850 3938.0 3938.0 3.2.1.108, 3.2.1.62 6530.0 protein-coding gene gene with protein product 603202.0 Standard NM_002299 NM_002299 Approved uc002tuu.1 P09848 OTTHUMG00000131738 ENST00000264162.2:c.4171C>T 2.__UNKNOWN__:g.136564700G>A ENSP00000264162:p.Gln1391* Q4ZG58 __UNKNOWN__ CCDS2178.1 . . . . . . . . . . G 39 7.881305 0.98539 . . ENSG00000115850 ENST00000264162;ENST00000455227 . . . 5.87 5.87 0.94306 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.56958 D 0.05 -23.6403 20.2191 0.98319 0.0:0.0:1.0:0.0 . . . . X 1391;823 . ENSP00000264162:Q1391X Q - 1 0 LCT 136281170 1.000000 0.71417 0.998000 0.56505 0.913000 0.54294 9.476000 0.97823 2.780000 0.95670 0.655000 0.94253 CAG LCT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254657.1 - ENST00000264162.2 Nonsense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 LRRN2 10446 broad.mit.edu 37 1 204587841 204587841 + Missense_Mutation SNP C C T rs138573874 TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr1:204587841C>T ENST00000367175.1 - 1.0 3492 c.1280G>A c.(1279-1281)cGa>cAa p.R427Q LRRN2_ENST00000367176.3_Missense_Mutation_p.R427Q|LRRN2_ENST00000367177.3_Missense_Mutation_p.R427Q O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 427.0 Ig-like C2-type. cell adhesion (GO:0007155)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) receptor activity (GO:0004872) 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) 38.0 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) GGGGAAGCTTCGTGGGGAGAT 0.652 0 C GLN/ARG,GLN/ARG 0,4406 0,0,2203 36.0 33.0 34.0 1280,1280 5.4 1.0 1 dbSNP_134 34.0 1,8599 1.2+/-3.3 0,1,4299 no missense,missense LRRN2 NM_006338.2,NM_201630.1 43,43 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 benign,benign 427/714,427/714 204587841.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AF030435 CCDS1448.1 1q32.1 2013-01-11 2007-01-31 2007-01-31 ENSG00000170382 ENSG00000170382 10446.0 10446.0 """Immunoglobulin superfamily / I-set domain containing""" 16914.0 protein-coding gene gene with protein product """leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7""" 605492.0 """leucine rich repeat neuronal 5""" LRRN5 9662332 Standard NM_006338 NM_006338 Approved GAC1, LRANK1, FIGLER7 uc001hbf.1 O75325 OTTHUMG00000035989 ENST00000367175.1:c.1280G>A 1.__UNKNOWN__:g.204587841C>T ENSP00000356143:p.Arg427Gln B2R624|Q5T0Y0|Q6UXM0|Q8N182 __UNKNOWN__ CCDS1448.1 . . . . . . . . . . C 11.63 1.694857 0.30052 0.0 1.16E-4 ENSG00000170382 ENST00000367176;ENST00000367177;ENST00000367175 T;T;T 0.59772 0.24;0.24;0.24 5.37 5.37 0.77165 Immunoglobulin-like (1); 0.000000 0.41396 D 0.000894 T 0.37210 0.0995 N 0.17631 0.505 0.34676 D 0.724248 B 0.28208 0.203 B 0.24394 0.053 T 0.47169 -0.9138 10 0.27082 T 0.32 . 7.401 0.26965 0.0:0.7917:0.0:0.2083 . 427 O75325 LRRN2_HUMAN Q 427 ENSP00000356144:R427Q;ENSP00000356145:R427Q;ENSP00000356143:R427Q ENSP00000356143:R427Q R - 2 0 LRRN2 202854464 0.004000 0.15560 1.000000 0.80357 0.925000 0.55904 0.529000 0.23019 2.518000 0.84900 0.467000 0.42956 CGA LRRN2-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000089894.1 - ENST00000367175.1 Missense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 CACNA1D 776 broad.mit.edu 37 3 53766101 53766101 + Missense_Mutation SNP A A G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr3:53766101A>G ENST00000422281.2 + 18.0 2465 c.2465A>G c.(2464-2466)gAt>gGt p.D822G CACNA1D_ENST00000350061.5_Missense_Mutation_p.D822G|CACNA1D_ENST00000288139.4_Missense_Mutation_p.D842G NM_001128839.1 NP_001122311.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 822.0 adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281) plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018) alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059) 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) 90.0 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) Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661) CCGCCTTGCGATGTGCCAGGT 0.557 0 83.0 77.0 79.0 3 53766101.0 2203.0 4300.0 6503.0 SO:0001583 missense AB209171 CCDS2872.1, CCDS46848.1, CCDS46849.1 3p14.3 2012-03-07 ENSG00000157388 ENSG00000157388 776.0 776.0 """Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels""" 1391.0 protein-coding gene gene with protein product 114206.0 CCHL1A2, CACNL1A2 1664412 Standard NM_000720 NM_000720 Approved Cav1.3, CACH3, CACN4 uc003dgu.5 Q01668 OTTHUMG00000158278 ENST00000422281.2:c.2465A>G 3.__UNKNOWN__:g.53766101A>G ENSP00000409174:p.Asp822Gly B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3 __UNKNOWN__ CCDS46849.1 . . . . . . . . . . A 16.76 3.211191 0.58343 . . ENSG00000157388 ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478 D;D;D;D 0.96265 -3.92;-3.95;-3.94;-3.96 5.96 5.96 0.96718 . . . . . D 0.93822 0.8024 L 0.47716 1.5 0.80722 D 1 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.06405 0.001;0.0;0.001;0.002 D 0.90533 0.4497 9 0.33141 T 0.24 . 14.1748 0.65534 1.0:0.0:0.0:0.0 . 822;515;822;842 B0FYA3;Q59GD8;Q01668;Q01668-2 .;.;CAC1D_HUMAN;. G 822;842;822;515 ENSP00000288133:D822G;ENSP00000288139:D842G;ENSP00000409174:D822G;ENSP00000418014:D515G ENSP00000288139:D842G D + 2 0 CACNA1D 53741141 1.000000 0.71417 1.000000 0.80357 0.953000 0.61014 7.581000 0.82535 2.270000 0.75569 0.533000 0.62120 GAT CACNA1D-002 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000350556.1 + ENST00000422281.2 Missense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 TMEM79 84283 broad.mit.edu 37 1 156261208 156261208 + Missense_Mutation SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr1:156261208G>A ENST00000405535.2 + 4.0 1175 c.1004G>A c.(1003-1005)cGc>cAc p.R335H TMEM79_ENST00000357501.2_Silent_p.P96P|TMEM79_ENST00000295694.5_Missense_Mutation_p.R335H|TMEM79_ENST00000495881.1_3'UTR NM_032323.2 NP_115699.1 Q9BSE2 TMM79_HUMAN transmembrane protein 79 335.0 cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055) integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1) 21.0 Hepatocellular(266;0.158) GCCGTGGGCCGCTCCTTCCGA 0.587 0 111.0 106.0 108.0 1 156261208.0 2203.0 4300.0 6503.0 SO:0001583 missense BC005094 CCDS1138.1 1q22 2014-04-22 ENSG00000163472 ENSG00000163472 84283.0 84283.0 28196.0 protein-coding gene gene with protein product """mattrin""" 615531.0 Standard NM_032323 NM_032323 Approved MGC13102, FLJ16057, FLJ32254, MATT uc009wrw.3 Q9BSE2 OTTHUMG00000019788 ENST00000405535.2:c.1004G>A 1.__UNKNOWN__:g.156261208G>A ENSP00000384748:p.Arg335His B2RE22|D3DVB8 __UNKNOWN__ CCDS1138.1 . . . . . . . . . . G 15.92 2.973980 0.53720 . . ENSG00000163472 ENST00000295694;ENST00000405535 T;T 0.49139 0.79;0.79 5.7 4.79 0.61399 . 0.052687 0.85682 D 0.000000 T 0.43634 0.1256 N 0.22421 0.69 0.80722 D 1 D 0.89917 1.0 D 0.76071 0.987 T 0.52749 -0.8534 10 0.62326 D 0.03 -4.8324 13.4047 0.60906 0.0761:0.0:0.9239:0.0 . 335 Q9BSE2 TMM79_HUMAN H 335 ENSP00000295694:R335H;ENSP00000384748:R335H ENSP00000295694:R335H R + 2 0 TMEM79 154527832 1.000000 0.71417 1.000000 0.80357 0.049000 0.14656 7.008000 0.76341 1.418000 0.47098 -0.136000 0.14681 CGC TMEM79-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052101.1 + ENST00000405535.2 Missense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 COL12A1 1303 broad.mit.edu 37 6 75893695 75893695 + Missense_Mutation SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr6:75893695G>A ENST00000322507.8 - 9.0 1472 c.1163C>T c.(1162-1164)aCg>aTg p.T388M COL12A1_ENST00000416123.2_Missense_Mutation_p.T388M|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.T388M NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 388.0 Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}. cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501) collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982) extracellular matrix structural constituent conferring tensile strength (GO:0030020) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169.0 AACACTGAGCGTGGTTGTCTG 0.512 G 1.0 0.0005 0.002 2184.0 0.9999 , , 0.0003 0.0005 0.8642 EXOME 0.0007 SNP 0 139.0 135.0 137.0 6 75893695.0 2024.0 4188.0 6212.0 SO:0001583 missense U73779 CCDS43481.1, CCDS43482.1 6q12-q13 2013-02-11 2003-07-24 ENSG00000111799 ENSG00000111799 1303.0 1303.0 """Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing""" 2188.0 protein-coding gene gene with protein product """collagen type XII proteoglycan""" 120320.0 """collagen, type XII, alpha 1-like""" COL12A1L 9143499 Standard NM_004370 XM_006715334 Approved uc003phs.3 Q99715 OTTHUMG00000015051 ENST00000322507.8:c.1163C>T 6.__UNKNOWN__:g.75893695G>A ENSP00000325146:p.Thr388Met O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716 __UNKNOWN__ CCDS43482.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 G 2.092 -0.408120 0.04832 . . ENSG00000111799 ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888 T;T;T 0.59502 0.26;0.26;0.26 5.31 -1.88 0.07713 Fibronectin, type III (4);Immunoglobulin-like fold (1); 1.000480 0.08065 N 0.998966 T 0.18383 0.0441 N 0.24115 0.695 0.09310 N 1 B;B 0.12630 0.006;0.006 B;B 0.08055 0.003;0.003 T 0.24728 -1.0152 10 0.48119 T 0.1 . 6.7736 0.23607 0.5112:0.1219:0.3669:0.0 . 388;388 D6RGG3;Q99715 .;COCA1_HUMAN M 388 ENSP00000325146:T388M;ENSP00000412864:T388M;ENSP00000421216:T388M ENSP00000325146:T388M T - 2 0 COL12A1 75950415 0.000000 0.05858 0.001000 0.08648 0.163000 0.22366 0.028000 0.13644 -0.841000 0.04200 -0.982000 0.02568 ACG COL12A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041249.3 - ENST00000322507.8 Missense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 KAT6A 7994 broad.mit.edu 37 8 41792302 41792302 + Silent SNP A A G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr8:41792302A>G ENST00000396930.3 - 18.0 3979 c.3436T>C c.(3436-3438)Ttg>Ctg p.L1146L KAT6A_ENST00000265713.2_Silent_p.L1146L|KAT6A_ENST00000406337.1_Silent_p.L1146L NM_001099412.1 NP_001092882.1 Q92794 KAT6A_HUMAN K(lysine) acetyltransferase 6A 1146.0 aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351) Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605) acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) TTCTTTTTCAAAGGTGTGGAT 0.428 0 191.0 205.0 200.0 8 41792302.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U47742 CCDS6124.1 8p11 2013-01-28 2011-07-21 2011-07-21 ENSG00000083168 ENSG00000083168 7994.0 7994.0 """Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type""" 13013.0 protein-coding gene gene with protein product """Monocytic leukemia zinc finger protein""" 601408.0 """runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3""" ZNF220, RUNXBP2, MYST3 8849440, 8782817 Standard NM_006766 NM_001099412 Approved MOZ, ZC2HC6A uc003xon.4 Q92794 OTTHUMG00000150453 ENST00000396930.3:c.3436T>C 8.__UNKNOWN__:g.41792302A>G Q76L81 __UNKNOWN__ CCDS6124.1 KAT6A-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000318163.1 - ENST00000396930.3 Silent SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 RAD54B 25788 broad.mit.edu 37 8 95479758 95479758 + Missense_Mutation SNP A A T TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr8:95479758A>T ENST00000336148.5 - 2.0 134 c.10T>A c.(10-12)Tct>Act p.S4T RAD54B_ENST00000297592.5_Missense_Mutation_p.S4T NM_012415.3 NP_036547.1 Q9Y620 RA54B_HUMAN RAD54 homolog B (S. cerevisiae) 4.0 ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131) nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724) 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) 39.0 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) GGTGCTGCAGATCGTCTCATA 0.373 Direct reversal of damage;Homologous recombination 0 112.0 110.0 111.0 8 95479758.0 2203.0 4300.0 6503.0 SO:0001583 missense AF112481 CCDS6262.1, CCDS56546.1, CCDS75768.1 8q22.1 2014-08-08 ENSG00000197275 ENSG00000197275 25788.0 25788.0 17228.0 protein-coding gene gene with protein product 604289.0 10362364, 10851248 Standard NM_012415 NM_012415 Approved RDH54 uc003ygk.3 Q9Y620 OTTHUMG00000133658 ENST00000336148.5:c.10T>A 8.__UNKNOWN__:g.95479758A>T ENSP00000336606:p.Ser4Thr F6WBS8 __UNKNOWN__ CCDS6262.1 . . . . . . . . . . A 18.05 3.537176 0.65085 . . ENSG00000197275 ENST00000336148;ENST00000523839;ENST00000297592 D;T;T 0.91351 -2.83;0.21;0.45 5.36 5.36 0.76844 . 0.000000 0.64402 D 0.000003 D 0.91828 0.7414 L 0.29908 0.895 0.53005 D 0.999962 D;D 0.76494 0.999;0.993 D;D 0.83275 0.996;0.971 D 0.92769 0.6230 10 0.87932 D 0 -8.4832 12.8601 0.57908 1.0:0.0:0.0:0.0 . 4;4 F6WBS8;Q9Y620 .;RA54B_HUMAN T 4 ENSP00000336606:S4T;ENSP00000428554:S4T;ENSP00000430153:S4T ENSP00000430153:S4T S - 1 0 RAD54B 95548934 1.000000 0.71417 0.998000 0.56505 0.916000 0.54674 5.203000 0.65174 2.010000 0.58986 0.459000 0.35465 TCT RAD54B-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257806.3 - ENST00000336148.5 Missense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 OR7G2 390882 broad.mit.edu 37 19 9213131 9213131 + Silent SNP C C T TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr19:9213131C>T ENST00000305456.2 - 1.0 851 c.852G>A c.(850-852)gtG>gtA p.V284V NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 263.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16.0 AGTCAGTAACCACAGAACTAA 0.468 Esophageal Squamous(67;143 1448 28637 40648) 0 115.0 102.0 106.0 19 9213131.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS32897.1 19p13.2 2013-09-24 ENSG00000170923 ENSG00000170923 390882.0 390882.0 """GPCR / Class A : Olfactory receptors""" 8466.0 protein-coding gene gene with protein product Standard NM_001005193 Approved OST260 uc010xkk.2 Q8NG99 OTTHUMG00000179931 ENST00000305456.2:c.852G>A 19.__UNKNOWN__:g.9213131C>T Q6IFJ4|Q96RA0 __UNKNOWN__ CCDS32897.1 OR7G2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000448994.1 - ENST00000305456.2 Silent SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 DNM1P47 0 broad.mit.edu 37 15 102294652 102294652 + RNA SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr15:102294652G>A ENST00000561463.1 + 0.0 2698 DNM1 pseudogene 47 CAGAGCTGCTGTCCAACCTGC 0.592 0 AJ576276 15q26.3 2013-04-25 ENSG00000259660 ENSG00000259660 100216544.0 100216544.0 35200.0 pseudogene pseudogene DNM1DN14@ Standard NG_009149 NG_009149 Approved DNM1DN14-3 OTTHUMG00000172265 ENST00000561463.1: 15.__UNKNOWN__:g.102294652G>A __UNKNOWN__ DNM1P47-001 KNOWN basic processed_transcript pseudogene OTTHUMT00000417589.1 + ENST00000561463.1 RNA SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 SKIV2L2 23517 broad.mit.edu 37 5 54674238 54674238 + Missense_Mutation SNP T T G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr5:54674238T>G ENST00000230640.5 + 17.0 2161 c.1907T>G c.(1906-1908)tTg>tGg p.L636W SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L535W NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 636.0 maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398) catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634) ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822) 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) 41.0 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) CTTGCCAAATTGGGTAAAGAA 0.313 Melanoma(2;92 134 23744 29976 33782) 0 55.0 59.0 58.0 5 54674238.0 2202.0 4292.0 6494.0 SO:0001583 missense D29641 CCDS3967.1 5q11.2 2008-11-25 2005-02-18 2005-02-18 ENSG00000039123 ENSG00000039123 23517.0 23517.0 18734.0 protein-coding gene gene with protein product """functional spliceosome-associated protein 118""" """KIAA0052""" KIAA0052 Standard NM_015360 Approved Mtr4, Dob1, fSAP118 uc003jpy.4 P42285 OTTHUMG00000097019 ENST00000230640.5:c.1907T>G 5.__UNKNOWN__:g.54674238T>G ENSP00000230640:p.Leu636Trp Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2 __UNKNOWN__ CCDS3967.1 . . . . . . . . . . T 25.8 4.674859 0.88445 . . ENSG00000039123 ENST00000230640;ENST00000545714 T;T 0.35973 1.28;1.31 5.75 5.75 0.90469 . 0.145139 0.47852 D 0.000213 T 0.65450 0.2692 M 0.89715 3.055 0.58432 D 0.999999 D;D 0.57899 0.976;0.981 P;P 0.62014 0.853;0.897 T 0.73366 -0.4005 10 0.66056 D 0.02 -27.4038 16.0262 0.80548 0.0:0.0:0.0:1.0 . 535;636 F5H7E2;P42285 .;SK2L2_HUMAN W 636;535 ENSP00000230640:L636W;ENSP00000442583:L535W ENSP00000230640:L636W L + 2 0 SKIV2L2 54709995 1.000000 0.71417 0.998000 0.56505 0.975000 0.68041 7.641000 0.83368 2.179000 0.69175 0.533000 0.62120 TTG SKIV2L2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214108.1 + ENST00000230640.5 Missense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 LZTS3 0 broad.mit.edu 37 20 3146605 3146605 + Silent SNP C C T TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr20:3146605C>T ENST00000329152.3 - 2.0 2258 c.861G>A c.(859-861)tcG>tcA p.S287S LZTS3_ENST00000337576.5_Silent_p.S287S|LZTS3_ENST00000360342.3_Silent_p.S287S O60299 LZTS3_HUMAN 287.0 Poly-Ser. cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) TAGATGACGACGACCCACTCT 0.692 0 30.0 30.0 30.0 20 3146605.0 2190.0 4281.0 6471.0 SO:0001819 synonymous_variant ENST00000329152.3:c.861G>A 20.__UNKNOWN__:g.3146605C>T A2A2Q7|D3DVX6|Q8IXX8 __UNKNOWN__ CCDS13049.1 LZTS3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077715.2 - ENST00000329152.3 Silent SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 GRIP1 23426 broad.mit.edu 37 12 66923631 66923631 + Missense_Mutation SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr12:66923631G>A ENST00000398016.3 - 5.0 550 c.482C>T c.(481-483)aCc>aTc p.T161I GRIP1_ENST00000359742.4_Missense_Mutation_p.T161I|GRIP1_ENST00000286445.7_Missense_Mutation_p.T161I NM_021150.3 NP_066973.2 Q96DT0 LEG12_HUMAN glutamate receptor interacting protein 1 0.0 Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}. intrinsic apoptotic signaling pathway (GO:0097193) nucleus (GO:0005634) lactose binding (GO:0030395) NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50.0 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) AAAACCAAAGGTATTGCCTTC 0.343 0 125.0 116.0 119.0 12 66923631.0 1834.0 4079.0 5913.0 SO:0001583 missense AJ133439 CCDS41807.1 12q13.13 2008-05-02 ENSG00000155974 ENSG00000155974 23426.0 23426.0 18708.0 protein-coding gene gene with protein product 604597.0 10197531 Standard NM_021150 Approved uc001stk.3 Q9Y3R0 OTTHUMG00000169019 ENST00000398016.3:c.482C>T 12.__UNKNOWN__:g.66923631G>A ENSP00000381098:p.Thr161Ile B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02 __UNKNOWN__ CCDS41807.1 . . . . . . . . . . G 20.3 3.966579 0.74131 . . ENSG00000155974 ENST00000398016;ENST00000359742;ENST00000286445;ENST00000540854;ENST00000538211;ENST00000540433;ENST00000536215;ENST00000545666;ENST00000542309;ENST00000539540;ENST00000541947 T;T;T;T;T;T;T;T;T;T;T 0.17528 2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.38 4.55 4.55 0.56014 PDZ/DHR/GLGF (4); 0.055515 0.64402 D 0.000002 T 0.15305 0.0369 N 0.16166 0.38 0.54753 D 0.999989 P;P;P 0.46512 0.879;0.692;0.879 P;P;P 0.47941 0.562;0.459;0.562 T 0.09185 -1.0686 9 . . . -18.265 16.3727 0.83370 0.0:0.0:1.0:0.0 . 161;161;161 F5H4N6;Q9Y3R0;Q9Y3R0-3 .;GRIP1_HUMAN;. I 161;161;161;32;161;105;105;134;105;105;187 ENSP00000381098:T161I;ENSP00000352780:T161I;ENSP00000286445:T161I;ENSP00000443006:T32I;ENSP00000446047:T161I;ENSP00000446024:T105I;ENSP00000446011:T105I;ENSP00000439124:T134I;ENSP00000438500:T105I;ENSP00000443392:T105I;ENSP00000438921:T187I . T - 2 0 GRIP1 65209898 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 5.571000 0.67404 2.474000 0.83562 0.557000 0.71058 ACC GRIP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401975.2 - ENST00000398016.3 Missense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 OR52I1 390037 broad.mit.edu 37 11 4615553 4615553 + Silent SNP C C A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr11:4615553C>A ENST00000530443.2 + 1.0 285 c.285C>A c.(283-285)tcC>tcA p.S95S OR52I1_ENST00000450052.2_Silent_p.S119S NM_001005169.1 NP_001005169.1 Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 95.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15.0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GAGACAGCTCCATCAGCTTTA 0.512 C 2.0 0.0009 2184.0 0.0035 1.0 , , 0.0003 0.0009 0.9756 LOWCOV 0.0005 SNP 0 C 11,4391 16.8+/-37.8 0,11,2190 176.0 165.0 169.0 285 2.1 1.0 11 169.0 0,8596 0,0,4298 no coding-synonymous OR52I1 NM_001005169.1 0,11,6488 AA,AC,CC 0.0,0.2499,0.0846 95/325 4615553.0 11,12987 2201.0 4298.0 6499.0 SO:0001819 synonymous_variant BK004371 CCDS59223.1 11p15.4 2012-08-09 ENSG00000232268 390037.0 390037.0 """GPCR / Class A : Olfactory receptors""" 15220.0 protein-coding gene gene with protein product Standard NM_001005169 NM_001005169 Approved uc010qyi.2 Q8NGK6 ENST00000530443.2:c.285C>A 11.__UNKNOWN__:g.4615553C>A Q6IF91 __UNKNOWN__ CCDS59223.1 OR52I1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385947.2 + ENST00000530443.2 Silent SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 UGT3A2 167127 broad.mit.edu 37 5 36049138 36049138 + Silent SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr5:36049138G>A ENST00000513300.1 - 3.0 686 c.594C>T c.(592-594)ggC>ggT p.G198G UGT3A2_ENST00000282507.3_Silent_p.G232G|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron NM_001168316.1 NP_001161788.1 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 232.0 cellular response to genistein (GO:0071412) integral component of membrane (GO:0016021) glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43.0 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTGGCCTAGAGCCTTCTGTGA 0.438 0 148.0 149.0 148.0 5 36049138.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS3914.1, CCDS54842.1 5p13.2 2014-05-20 ENSG00000168671 ENSG00000168671 167127.0 167127.0 """UDP glucuronosyltransferases""" 27266.0 protein-coding gene gene with protein product 12975309 Standard NM_174914 NM_174914 Approved uc003jjz.2 Q3SY77 OTTHUMG00000131108 ENST00000513300.1:c.594C>T 5.__UNKNOWN__:g.36049138G>A B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2 __UNKNOWN__ CCDS54842.1 UGT3A2-002 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000367177.1 - ENST00000513300.1 Silent SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 HOXD10 3237 broad.mit.edu 37 2 176973665 176973665 + Missense_Mutation SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr2:176973665G>A ENST00000490088.2 + 0.0 148 HOXD11_ENST00000249504.5_Missense_Mutation_p.C271Y|HOXD11_ENST00000498438.1_3'UTR P28358 HXD10_HUMAN homeobox D10 adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 17.0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) AAAAAGCGCTGTCCCTATACC 0.577 0 83.0 91.0 88.0 2 176973665.0 2203.0 4300.0 6503.0 SO:0001624 3_prime_UTR_variant CCDS2266.1 2q31.1 2014-09-17 2005-12-22 ENSG00000128710 ENSG00000128710 3236.0 3236.0 """Homeoboxes / ANTP class : HOXL subclass""" 5133.0 protein-coding gene gene with protein product 142984.0 """homeo box D10""" HOX4, HOX4D 1973146, 1358459 Standard NM_002148 Approved uc002ukj.3 P28358 OTTHUMG00000132511 ENST00000490088.2:c.*145G>A 2.__UNKNOWN__:g.176973665G>A Q6NT10 __UNKNOWN__ . . . . . . . . . . G 20.7 4.031443 0.75504 . . ENSG00000128713 ENST00000249504;ENST00000392538 D 0.96041 -3.89 5.42 5.42 0.78866 Homeodomain-related (1);Homeobox (3);Homeodomain-like (1); 0.000000 0.38217 U 0.001772 D 0.95940 0.8678 N 0.25286 0.73 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.97054 0.9766 10 0.87932 D 0 . 19.2199 0.93791 0.0:0.0:1.0:0.0 . 271 P31277 HXD11_HUMAN Y 271;92 ENSP00000249504:C271Y ENSP00000249504:C271Y C + 2 0 HOXD11 176681911 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 9.847000 0.99503 2.552000 0.86080 0.603000 0.83216 TGT HOXD10-002 KNOWN basic|exp_conf processed_transcript protein_coding OTTHUMT00000334236.2 + ENST00000490088.2 3'UTR SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 RP11-385D13.1 0 broad.mit.edu 37 17 15554470 15554470 + Missense_Mutation SNP C C G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr17:15554470C>G ENST00000455584.2 - 1.0 497 c.454G>C c.(454-456)Gac>Cac p.D152H TRIM16_ENST00000416464.2_Intron|TRIM16_ENST00000581224.1_Intron|TRIM16_ENST00000336708.7_Missense_Mutation_p.D152H|TRIM16_ENST00000578237.1_Missense_Mutation_p.D152H TGGCAACAGTCCTGGCAGATG 0.602 0 122.0 111.0 115.0 17 15554470.0 2203.0 4300.0 6503.0 SO:0001583 missense ENST00000455584.2:c.454G>C 17.__UNKNOWN__:g.15554470C>G ENSP00000402644:p.Asp152His __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. c|c 16.92|16.92 3.256151|3.256151 0.59321|0.59321 .|. .|. ENSG00000221926|ENSG00000251537 ENST00000336708|ENST00000455584 T|. 0.46451|. 0.87|. 5.54|5.54 4.55|4.55 0.56014|0.56014 Zinc finger, B-box (3);|. 0.213009|. 0.38436|. U|. 0.001688|. T|T 0.32585|0.32585 0.0834|0.0834 N|N 0.16833|0.16833 0.445|0.445 0.25226|0.25226 N|N 0.989868|0.989868 P;P|. 0.47545|. 0.897;0.794|. P;P|. 0.57548|. 0.823;0.478|. T|T 0.20207|0.20207 -1.0282|-1.0282 10|5 0.39692|. T|. 0.17|. .|. 14.0731|14.0731 0.64872|0.64872 0.0:0.8478:0.1522:0.0|0.0:0.8478:0.1522:0.0 .|. 152;166|. O95361;Q59EB2|. TRI16_HUMAN;.|. H|S 152|166 ENSP00000338989:D152H|. ENSP00000338989:D152H|. D|R -|- 1|3 0|2 TRIM16|RP11-385D13.1 15495195|15495195 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.965000|0.965000 0.64279|0.64279 1.465000|1.465000 0.35299|0.35299 1.309000|1.309000 0.44985|0.44985 0.563000|0.563000 0.77884|0.77884 GAC|AGG RP11-385D13.1-001 NOVEL basic|appris_principal|readthrough_transcript protein_coding protein_coding OTTHUMT00000363271.2 - ENST00000455584.2 Missense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 TSPEAR 386682 broad.mit.edu 37 21 45978220 45978220 + Missense_Mutation SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr21:45978220G>A ENST00000397916.1 - 2.0 258 TSPEAR_ENST00000323084.4_Intron|KRTAP10-3_ENST00000391620.1_Missense_Mutation_p.P127S Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats sensory perception of sound (GO:0007605) cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420) 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) 37.0 GAgcagacgggcacacagcag 0.657 0 163.0 163.0 163.0 21 45978220.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AJ487962 CCDS13712.1, CCDS74801.1 21q22.3 2012-10-30 2011-01-25 2011-01-25 ENSG00000175894 ENSG00000175894 54084.0 54084.0 1268.0 protein-coding gene gene with protein product 612920.0 """chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98""" C21orf29, DFNB98 12095917, 22678063 Standard NM_144991 NM_144991 Approved MGC11251, TSP-EAR uc002zfe.1 Q8WU66 OTTHUMG00000041215 ENST00000397916.1:c.99+9448C>T 21.__UNKNOWN__:g.45978220G>A __UNKNOWN__ . . . . . . . . . . g 4.656 0.121921 0.08931 . . ENSG00000212935 ENST00000391620 T 0.01279 5.06 3.53 2.63 0.31362 . . . . . T 0.03783 0.0107 L 0.58510 1.815 0.09310 N 0.999994 P 0.47484 0.896 P 0.53988 0.739 T 0.40739 -0.9547 9 0.39692 T 0.17 . 8.549 0.33440 0.121:0.0:0.879:0.0 . 127 P60369 KR103_HUMAN S 127 ENSP00000375478:P127S ENSP00000375478:P127S P - 1 0 KRTAP10-3 44802648 0.759000 0.28416 0.128000 0.21923 0.207000 0.24258 1.736000 0.38187 1.964000 0.57103 0.561000 0.74099 CCC TSPEAR-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000195865.1 - ENST00000397916.1 Intron SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 ZBTB25 9495 broad.mit.edu 37 14 64936274 64936274 + Missense_Mutation SNP T T G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr14:64936274T>G ENST00000555424.1 - 2.0 256 ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.Y388D|AKAP5_ENST00000394718.4_Missense_Mutation_p.Y388D P24278 ZBT25_HUMAN zinc finger and BTB domain containing 25 gene expression (GO:0010467)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 10.0 all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469) TTCAGAACAATATGAAACACT 0.338 0 96.0 107.0 103.0 14 64936274.0 2202.0 4300.0 6502.0 SO:0001627 intron_variant X16576 CCDS9765.1 14q23-q24 2013-01-08 2005-05-22 2005-05-22 ENSG00000089775 ENSG00000089775 7597.0 7597.0 """-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing""" 13112.0 protein-coding gene gene with protein product 194541.0 """zinc finger protein 46 (KUP)"", ""chromosome 14 open reading frame 51""" ZNF46, C14orf51 Standard NM_006977 NM_006977 Approved KUP uc001xhf.3 P24278 OTTHUMG00000141310 ENST00000555424.1:c.256+17557A>C 14.__UNKNOWN__:g.64936274T>G B3KUX6|Q8IYH9 __UNKNOWN__ . . . . . . . . . . T 19.68 3.873379 0.72180 . . ENSG00000179841 ENST00000394718;ENST00000320636 T;T 0.55588 0.51;0.51 5.51 5.51 0.81932 . 0.000000 0.48767 D 0.000164 T 0.61702 0.2368 L 0.29908 0.895 0.36024 D 0.838924 D 0.89917 1.0 D 0.87578 0.998 T 0.71487 -0.4578 10 0.87932 D 0 -16.3176 14.1604 0.65443 0.0:0.0:0.0:1.0 . 388 P24588 AKAP5_HUMAN D 388 ENSP00000378207:Y388D;ENSP00000315615:Y388D ENSP00000315615:Y388D Y + 1 0 AKAP5 64006027 1.000000 0.71417 0.996000 0.52242 0.992000 0.81027 3.242000 0.51384 2.217000 0.71921 0.482000 0.46254 TAT ZBTB25-004 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000414209.1 - ENST00000555424.1 Intron SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 ACTR3C 653857 broad.mit.edu 37 7 149990455 149990455 + Silent SNP T T C rs146995367 by1000genomes TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr7:149990455T>C ENST00000539352.1 - 3.0 350 c.99A>G c.(97-99)acA>acG p.T33T ACTR3C_ENST00000252071.4_Silent_p.T33T NM_001164458.1 NP_001157930.1 Q9C0K3 ARP3C_HUMAN ARP3 actin-related protein 3 homolog C (yeast) 33.0 extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524) p.T33T(1) TCCCCGTTAATGTACGTTCAC 0.468 1 Substitution - coding silent(1) kidney(1) 165.0 135.0 144.0 7 149990455.0 692.0 1591.0 2283.0 SO:0001819 synonymous_variant CCDS47744.1 7q36.1 2009-09-23 ENSG00000106526 ENSG00000106526 653857.0 653857.0 37282.0 protein-coding gene gene with protein product 11162478, 14651955 Standard NM_001164458 Approved ARP11 uc022aps.1 Q9C0K3 OTTHUMG00000158323 ENST00000539352.1:c.99A>G 7.__UNKNOWN__:g.149990455T>C Q5CZI4 __UNKNOWN__ CCDS47744.1 ACTR3C-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350676.2 - ENST00000539352.1 Silent SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 FBF1 85302 broad.mit.edu 37 17 73914285 73914285 + Missense_Mutation SNP T T G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr17:73914285T>G ENST00000586717.1 - 20.0 2435 c.2162A>C c.(2161-2163)gAc>gCc p.D721A FBF1_ENST00000319129.5_Missense_Mutation_p.D720A|FBF1_ENST00000389570.4_Missense_Mutation_p.D721A Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 721.0 apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162) cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922) large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4.0 GACCTCTCGGTCCTTCAGCAG 0.672 0 29.0 38.0 35.0 17 73914285.0 2112.0 4231.0 6343.0 SO:0001583 missense AK074045 CCDS45779.1 17q25.3 2011-04-21 ENSG00000188878 ENSG00000188878 85302.0 85302.0 24674.0 protein-coding gene gene with protein product """albatross""" 11347906 Standard NM_001080542 NM_001080542 Approved FLJ00103, FBF-1, KIAA1863, ALB uc002jqc.3 Q8TES7 ENST00000586717.1:c.2162A>C 17.__UNKNOWN__:g.73914285T>G ENSP00000465132:p.Asp721Ala B5MEM5|Q96IF6|Q96JG4|Q96MA8 __UNKNOWN__ . . . . . . . . . . T 23.9 4.474916 0.84640 . . ENSG00000188878 ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433 T;T 0.20463 2.07;2.07 5.19 5.19 0.71726 . . . . . T 0.43299 0.1241 M 0.71581 2.175 0.46376 D 0.999018 D;D;D 0.89917 0.997;1.0;1.0 D;D;D 0.87578 0.91;0.973;0.998 T 0.28427 -1.0044 9 0.40728 T 0.16 -26.2472 11.4003 0.49866 0.0:0.0:0.1513:0.8487 . 735;721;720 Q8TES7-6;Q8TES7;A6NLR5 .;FBF1_HUMAN;. A 721;721;720;734 ENSP00000374221:D721A;ENSP00000324292:D720A ENSP00000324292:D720A D - 2 0 FBF1 71425880 1.000000 0.71417 1.000000 0.80357 0.977000 0.68977 3.806000 0.55583 1.954000 0.56735 0.460000 0.39030 GAC FBF1-001 KNOWN basic|appris_candidate protein_coding protein_coding OTTHUMT00000448945.2 - ENST00000586717.1 Missense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 ARHGAP39 80728 broad.mit.edu 37 8 145773409 145773409 + Missense_Mutation SNP C C T TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr8:145773409C>T ENST00000276826.5 - 4.0 1262 c.1061G>A c.(1060-1062)cGg>cAg p.R354Q ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R354Q|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R354Q Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 354.0 Pro-rich. axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22.0 GAGGAACGGCCGGGGCTTACG 0.697 0 14.0 14.0 14.0 8 145773409.0 2171.0 4240.0 6411.0 SO:0001583 missense CCDS34971.1 8q24.3 2011-06-29 ENSG00000147799 ENSG00000147799 80728.0 80728.0 """Rho GTPase activating proteins""" 29351.0 protein-coding gene gene with protein product """RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)""" 615880.0 15755809 Standard XM_005272344 Approved KIAA1688, Vilse, CrGAP uc003zds.1 Q9C0H5 OTTHUMG00000165182 ENST00000276826.5:c.1061G>A 8.__UNKNOWN__:g.145773409C>T ENSP00000276826:p.Arg354Gln B4E1I1 __UNKNOWN__ . . . . . . . . . . C 1.068 -0.670761 0.03403 . . ENSG00000147799 ENST00000276826;ENST00000377307;ENST00000540274 T;T;T 0.67523 -0.27;-0.0;-0.27 4.95 -0.116 0.13555 . 1.553630 0.03081 N 0.158461 T 0.40347 0.1113 N 0.14661 0.345 0.09310 N 1 B;B 0.32188 0.245;0.359 B;B 0.21360 0.015;0.034 T 0.17837 -1.0356 10 0.18710 T 0.47 -15.8464 0.402 0.00427 0.1881:0.2055:0.2255:0.3809 . 354;354 Q9C0H5;Q9C0H5-2 RHG39_HUMAN;. Q 354 ENSP00000276826:R354Q;ENSP00000366522:R354Q;ENSP00000445075:R354Q ENSP00000276826:R354Q R - 2 0 ARHGAP39 145744217 0.007000 0.16637 0.000000 0.03702 0.047000 0.14425 1.579000 0.36536 0.062000 0.16340 0.655000 0.94253 CGG ARHGAP39-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000382509.1 - ENST00000276826.5 Missense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 RSG1 79363 broad.mit.edu 37 1 16558644 16558644 + Missense_Mutation SNP C C G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr1:16558644C>G ENST00000375599.3 - 5.0 1095 c.676G>C c.(676-678)Gac>Cac p.D226H NM_030907.3 NP_112169.2 Q9BU20 RSG1_HUMAN REM2 and RAB-like small GTPase 1 226.0 Small GTPase-like. cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264) ciliary basal body (GO:0036064)|cytoplasm (GO:0005737) GTP binding (GO:0005525) large_intestine(2)|lung(2)|pancreas(1)|prostate(1) 6.0 TGGGCAACGTCGGCCAGCCCA 0.687 0 42.0 45.0 44.0 1 16558644.0 2203.0 4300.0 6503.0 SO:0001583 missense BC008702 CCDS171.1 1p36.13 2014-02-21 2011-02-22 2011-02-22 ENSG00000132881 ENSG00000132881 79363.0 79363.0 28127.0 protein-coding gene gene with protein product """Rem/Rab-Similar GTPase 1""" """chromosome 1 open reading frame 89""" C1orf89 19767740 Standard NM_030907 NM_030907 Approved MGC10731 uc001ayd.3 Q9BU20 OTTHUMG00000002214 ENST00000375599.3:c.676G>C 1.__UNKNOWN__:g.16558644C>G ENSP00000364749:p.Asp226His Q5TEV7 __UNKNOWN__ CCDS171.1 . . . . . . . . . . C 16.91 3.251711 0.59212 . . ENSG00000132881 ENST00000375599 T 0.58506 0.33 5.47 5.47 0.80525 . 0.101850 0.64402 D 0.000003 T 0.63236 0.2494 N 0.24115 0.695 0.58432 D 0.999999 D 0.89917 1.0 D 0.65573 0.936 T 0.65100 -0.6250 10 0.49607 T 0.09 -29.7484 16.8326 0.85948 0.0:1.0:0.0:0.0 . 226 Q9BU20 RSG1_HUMAN H 226 ENSP00000364749:D226H ENSP00000364749:D226H D - 1 0 RSG1 16431231 1.000000 0.71417 0.070000 0.20053 0.106000 0.19336 5.514000 0.67043 2.553000 0.86117 0.655000 0.94253 GAC RSG1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000006279.2 - ENST00000375599.3 Missense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 TRIM62 55223 broad.mit.edu 37 1 33612992 33612992 + Missense_Mutation SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr1:33612992G>A ENST00000291416.5 - 5.0 1447 c.1214C>T c.(1213-1215)aCg>aTg p.T405M TRIM62_ENST00000543586.1_Missense_Mutation_p.T284M NM_018207.2 NP_060677.2 Q9BVG3 TRI62_HUMAN tripartite motif containing 62 405.0 B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}. innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186) cytoplasm (GO:0005737) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15.0 Myeloproliferative disorder(586;0.0393) GTTAAGCCGCGTCCAGGGCTC 0.587 0 88.0 86.0 87.0 1 33612992.0 2203.0 4300.0 6503.0 SO:0001583 missense BC007999 CCDS376.1 1p35.1 2013-10-11 2011-01-25 ENSG00000116525 ENSG00000116525 55223.0 55223.0 """Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers""" 25574.0 protein-coding gene gene with protein product """ductal epithelium-associated RING Chromosome 1""" """tripartite motif-containing 62""" 19536326 Standard NM_018207 NM_018207 Approved FLJ10759, DEAR1 uc001bxb.3 Q9BVG3 OTTHUMG00000004132 ENST00000291416.5:c.1214C>T 1.__UNKNOWN__:g.33612992G>A ENSP00000291416:p.Thr405Met B3KVH5|B4DTE4|D3DPR1|Q9NVG0 __UNKNOWN__ CCDS376.1 . . . . . . . . . . G 21.9 4.218945 0.79464 . . ENSG00000116525 ENST00000291416;ENST00000543586 T;T 0.71934 -0.61;-0.61 5.68 4.76 0.60689 Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1); 0.000000 0.85682 D 0.000000 D 0.85265 0.5657 M 0.88310 2.945 0.58432 D 0.999999 D 0.89917 1.0 D 0.91635 0.999 D 0.86819 0.2003 10 0.52906 T 0.07 . 12.3042 0.54891 0.0826:0.0:0.9174:0.0 . 405 Q9BVG3 TRI62_HUMAN M 405;284 ENSP00000291416:T405M;ENSP00000441173:T284M ENSP00000291416:T405M T - 2 0 TRIM62 33385579 1.000000 0.71417 0.997000 0.53966 0.970000 0.65996 7.996000 0.88334 1.397000 0.46682 0.436000 0.28706 ACG TRIM62-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000011890.1 - ENST00000291416.5 Missense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 SSX5 6758 broad.mit.edu 37 X 48049618 48049618 + Silent SNP C C A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chrX:48049618C>A ENST00000311798.1 - 7.0 592 c.540G>T c.(538-540)ctG>ctT p.L180L SSX5_ENST00000347757.1_Silent_p.L139L|SSX5_ENST00000376923.1_Silent_p.L139L NM_021015.3 NP_066295.3 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 139.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) nucleic acid binding (GO:0003676) endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1) 18.0 CTGAGGGGCGCAGCTGTTTCC 0.463 0 160.0 141.0 147.0 X 48049618.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant BC016640 CCDS14288.1, CCDS14289.1 Xp11.23 2008-02-05 ENSG00000165583 ENSG00000165583 6758.0 6758.0 11339.0 protein-coding gene gene with protein product 300327.0 Standard NM_021015 NM_021015 Approved uc004diz.1 O60225 OTTHUMG00000021471 ENST00000311798.1:c.540G>T X.__UNKNOWN__:g.48049618C>A Q5JQ59|Q5JQ60|Q96AW3 __UNKNOWN__ CCDS14288.1 SSX5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000056465.1 - ENST00000311798.1 Silent SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 USP32 84669 broad.mit.edu 37 17 58303433 58303433 + Missense_Mutation SNP T T C TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr17:58303433T>C ENST00000300896.4 - 13.0 1593 c.1399A>G c.(1399-1401)Act>Gct p.T467A USP32_ENST00000592339.1_Missense_Mutation_p.T137A NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 467.0 DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}. protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) Golgi apparatus (GO:0005794)|membrane (GO:0016020) calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62.0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) TCAGATGCAGTAGAAATGTTG 0.433 0 119.0 118.0 118.0 17 58303433.0 2203.0 4300.0 6503.0 SO:0001583 missense AF533230 CCDS32697.1 17q23.3 2013-01-10 2005-08-08 ENSG00000170832 ENSG00000170832 84669.0 84669.0 """Ubiquitin-specific peptidases"", ""EF-hand domain containing""" 19143.0 protein-coding gene gene with protein product 607740.0 """ubiquitin specific protease 32""" 12838346 Standard NM_032582 NM_032582 Approved NY-REN-60, USP10 uc002iyo.1 Q8NFA0 ENST00000300896.4:c.1399A>G 17.__UNKNOWN__:g.58303433T>C ENSP00000300896:p.Thr467Ala Q7Z5T3|Q9BX85|Q9Y591 __UNKNOWN__ CCDS32697.1 . . . . . . . . . . T 14.10 2.435621 0.43224 . . ENSG00000170832 ENST00000300896 T 0.42900 0.96 5.17 -0.303 0.12792 Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3); 0.368487 0.32719 N 0.005728 T 0.23014 0.0556 N 0.22421 0.69 0.80722 D 1 B 0.15141 0.012 B 0.18263 0.021 T 0.16070 -1.0415 10 0.08179 T 0.78 . 11.1001 0.48168 0.6424:0.0:0.0:0.3576 . 467 Q8NFA0 UBP32_HUMAN A 467 ENSP00000300896:T467A ENSP00000300896:T467A T - 1 0 USP32 55658215 1.000000 0.71417 0.998000 0.56505 0.989000 0.77384 1.178000 0.31981 -0.058000 0.13177 -0.516000 0.04426 ACT USP32-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000449235.2 - ENST00000300896.4 Missense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 ELFN2 114794 broad.mit.edu 37 22 37769955 37769955 + Missense_Mutation SNP C C G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr22:37769955C>G ENST00000402918.2 - 3.0 2405 c.1620G>C c.(1618-1620)gaG>gaC p.E540D RP1-63G5.5_ENST00000430883.1_RNA NM_052906.3 NP_443138.2 Q5R3F8 PPR29_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 540.0 negative regulation of phosphatase activity (GO:0010923) extracellular space (GO:0005615)|integral component of membrane (GO:0016021) phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35.0 Melanoma(58;0.0574) CCTTGTCCACCTCCTTGGCAA 0.642 0 96.0 91.0 93.0 22 37769955.0 2203.0 4300.0 6503.0 SO:0001583 missense BC041596 CCDS33642.1 22q13.1 2013-02-11 2011-10-27 2011-10-27 ENSG00000166897 ENSG00000166897 114794.0 114794.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing""" 29396.0 protein-coding gene gene with protein product """leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29""" LRRC62, PPP1R29 17868438 Standard NM_052906 XR_244427 Approved dJ63G5.3, KIAA1904 uc003asq.4 Q5R3F8 OTTHUMG00000150558 ENST00000402918.2:c.1620G>C 22.__UNKNOWN__:g.37769955C>G ENSP00000385277:p.Glu540Asp Q96PY3 __UNKNOWN__ CCDS33642.1 . . . . . . . . . . C 15.57 2.872802 0.51695 . . ENSG00000166897 ENST00000349653;ENST00000402918 T;T 0.34859 1.34;1.34 4.79 3.75 0.43078 . 0.000000 0.85682 D 0.000000 T 0.57315 0.2045 M 0.74647 2.275 0.58432 D 0.999995 D 0.89917 1.0 D 0.83275 0.996 T 0.60229 -0.7304 10 0.87932 D 0 -32.2706 10.6204 0.45476 0.0:0.8413:0.0:0.1587 . 540 Q5R3F8 PPR29_HUMAN D 540 ENSP00000300147:E540D;ENSP00000385277:E540D ENSP00000300147:E540D E - 3 2 ELFN2 36099901 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 1.599000 0.36751 0.971000 0.38288 0.511000 0.50034 GAG ELFN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318900.2 - ENST00000402918.2 Missense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 ST6GALNAC1 55808 broad.mit.edu 37 17 74621461 74621461 + Missense_Mutation SNP A A G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr17:74621461A>G ENST00000156626.7 - 9.0 1953 c.1754T>C c.(1753-1755)aTc>aCc p.I585T NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 585.0 oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22.0 GTACAGCCGGATTATCCCTTC 0.537 0 67.0 54.0 58.0 17 74621461.0 2203.0 4300.0 6503.0 SO:0001583 missense Y11339 CCDS11748.1 17q25.3 2013-03-01 2005-02-07 2005-02-07 ENSG00000070526 ENSG00000070526 55808.0 55808.0 """Sialyltransferases""" 23614.0 protein-coding gene gene with protein product 610138.0 """sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A""" SIAT7A Standard NM_018414 NM_001289107 Approved ST6GalNAcI uc002jsh.3 Q9NSC7 OTTHUMG00000180369 ENST00000156626.7:c.1754T>C 17.__UNKNOWN__:g.74621461A>G ENSP00000156626:p.Ile585Thr Q6UW90|Q9NSC6 __UNKNOWN__ CCDS11748.1 . . . . . . . . . . A 15.61 2.883291 0.51908 . . ENSG00000070526 ENST00000156626 T 0.35605 1.3 5.07 5.07 0.68467 . 0.215485 0.40728 N 0.001028 T 0.61085 0.2319 M 0.79258 2.445 0.80722 D 1 D 0.76494 0.999 D 0.72625 0.978 T 0.66933 -0.5798 10 0.87932 D 0 -31.4875 15.1407 0.72609 1.0:0.0:0.0:0.0 . 585 Q9NSC7 SIA7A_HUMAN T 585 ENSP00000156626:I585T ENSP00000156626:I585T I - 2 0 ST6GALNAC1 72133056 1.000000 0.71417 0.516000 0.27786 0.048000 0.14542 6.577000 0.74027 2.042000 0.60477 0.533000 0.62120 ATC ST6GALNAC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000450974.1 - ENST00000156626.7 Missense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 FLG 2312 broad.mit.edu 37 1 152282021 152282021 + Missense_Mutation SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr1:152282021G>A ENST00000368799.1 - 3.0 5376 c.5341C>T c.(5341-5343)Cgc>Tgc p.R1781C FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1781.0 Ser-rich. establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275) cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198) p.R1781C(1) 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) 424.0 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCCCTGTGCGTCCATGGGCG 0.602 Ichthyosis 1 Substitution - Missense(1) endometrium(1) 211.0 217.0 215.0 1 152282021.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris XM_048104 CCDS30860.1 1q21.3 2013-01-10 ENSG00000143631 ENSG00000143631 2312.0 2312.0 """EF-hand domain containing""" 3748.0 protein-coding gene gene with protein product 135940.0 2740331, 2248957, 16444271 Standard NM_002016 NM_002016 Approved uc001ezu.1 P20930 OTTHUMG00000012202 ENST00000368799.1:c.5341C>T 1.__UNKNOWN__:g.152282021G>A ENSP00000357789:p.Arg1781Cys Q01720|Q5T583|Q9UC71 __UNKNOWN__ CCDS30860.1 . . . . . . . . . . G 11.69 1.713188 0.30413 . . ENSG00000143631 ENST00000368799;ENST00000271820 T 0.01745 4.66 4.51 -1.39 0.08997 . . . . . T 0.01905 0.0060 M 0.63428 1.95 0.09310 N 1 D 0.67145 0.996 P 0.55667 0.781 T 0.33033 -0.9884 9 0.72032 D 0.01 . 10.1974 0.43062 0.0859:0.578:0.3361:0.0 . 1781 P20930 FILA_HUMAN C 1781;16 ENSP00000357789:R1781C ENSP00000271820:R16C R - 1 0 FLG 150548645 0.000000 0.05858 0.000000 0.03702 0.007000 0.05969 -3.051000 0.00628 -0.485000 0.06754 -0.311000 0.09066 CGC FLG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033742.1 - ENST00000368799.1 Missense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 CA2 760 broad.mit.edu 37 8 86389491 86389491 + Missense_Mutation SNP T T A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr8:86389491T>A ENST00000285379.5 + 6.0 880 c.650T>A c.(649-651)gTc>gAc p.V217D NM_000067.2 NP_000058.1 P00918 CAH2_HUMAN carbonic anhydrase II 217.0 angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281) apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886) carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270) central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11.0 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909) CCCATCAGCGTCAGCAGCGAG 0.517 0 236.0 229.0 232.0 8 86389491.0 2203.0 4300.0 6503.0 SO:0001583 missense J03037 CCDS6239.1 8q21.2 2012-10-02 ENSG00000104267 ENSG00000104267 760.0 760.0 4.2.1.1 """Carbonic anhydrases""" 1373.0 protein-coding gene gene with protein product 611492.0 3107918 Standard NM_000067 NM_000067 Approved Car2, CA-II, CAII uc003ydk.2 P00918 OTTHUMG00000164944 ENST00000285379.5:c.650T>A 8.__UNKNOWN__:g.86389491T>A ENSP00000285379:p.Val217Asp B2R7G8|Q6FI12|Q96ET9 __UNKNOWN__ CCDS6239.1 . . . . . . . . . . T 17.39 3.376947 0.61735 . . ENSG00000104267 ENST00000285379 T 0.72505 -0.66 5.54 5.54 0.83059 Carbonic anhydrase, alpha-class, catalytic domain (4); 0.109676 0.64402 D 0.000008 D 0.89870 0.6840 H 0.97962 4.115 0.80722 D 1 D 0.89917 1.0 D 0.80764 0.994 D 0.93452 0.6803 10 0.87932 D 0 -0.2714 14.8633 0.70397 0.0:0.0:0.0:1.0 . 217 P00918 CAH2_HUMAN D 217 ENSP00000285379:V217D ENSP00000285379:V217D V + 2 0 CA2 86576743 0.997000 0.39634 0.174000 0.22961 0.503000 0.33858 6.260000 0.72502 2.108000 0.64289 0.454000 0.30748 GTC CA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381097.2 + ENST00000285379.5 Missense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 SYT16 83851 broad.mit.edu 37 14 62542092 62542093 + Frame_Shift_Ins INS - - C TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr14:62542092_62542093insC ENST00000430451.2 + 3.0 1173_1174 c.976_977insC c.(976-978)tccfs p.S326fs SYT16_ENST00000446982.2_Frame_Shift_Ins_p.S326fs|RP11-355I22.5_ENST00000553990.1_lincRNA NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 326.0 exocytosis (GO:0006887) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35.0 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) TGACAGCTCCTCCATGTGGAGT 0.475 0 SO:0001589 frameshift_variant BC040924 CCDS45121.1 14q23.2 2014-07-02 2005-07-15 2005-07-15 ENSG00000139973 ENSG00000139973 83851.0 83851.0 """Synaptotagmins""" 23142.0 protein-coding gene gene with protein product """synaptotagmin XIV-related"", "" chr14 synaptotagmin""" 610950.0 """synaptotagmin XIV-like""" SYT14L 11543631 Standard NM_031914 NM_031914 Approved yt14r, CHR14SYT, Strep14 uc001xfu.1 Q17RD7 OTTHUMG00000171106 ENST00000430451.2:c.978dupC 14.__UNKNOWN__:g.62542094_62542094dupC ENSP00000394700:p.Ser326fs B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8 __UNKNOWN__ CCDS45121.1 SYT16-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000411700.1 + ENST00000430451.2 Frame_Shift_Ins INS PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 ACER2 340485 broad.mit.edu 37 9 19446412 19446412 + Frame_Shift_Del DEL A A - TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr9:19446412delA ENST00000340967.2 + 5.0 663 c.637delA c.(637-639)atgfs p.M213fs NM_001010887.2 NP_001010887.2 Q5QJU3 ACER2_HUMAN alkaline ceramidase 2 213.0 activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to drug (GO:0035690)|ceramide metabolic process (GO:0006672)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of protein glycosylation in Golgi (GO:0090285)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512) Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173) ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 13.0 CCTGCACTGCATGTGGTAAGC 0.592 0 95.0 81.0 86.0 9 19446412.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant AK123581 CCDS34992.1 9p21.3 2013-01-25 2008-12-19 2008-12-19 ENSG00000177076 ENSG00000177076 340485.0 340485.0 3.5.1.23 """Alkaline ceramidase""" 23675.0 protein-coding gene gene with protein product 613492.0 """N-acylsphingosine amidohydrolase 3-like""" ASAH3L 18945876 Standard XM_294540 XM_005251447 Approved FLJ41587 uc003zny.1 Q5QJU3 OTTHUMG00000019644 ENST00000340967.2:c.637delA 9.__UNKNOWN__:g.19446412delA ENSP00000342609:p.Met213fs A2A3R8|Q569G5|Q5VZR7|Q71RD2 __UNKNOWN__ CCDS34992.1 ACER2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051864.1 + ENST00000340967.2 Frame_Shift_Del DEL PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 BRD7 29117 broad.mit.edu 37 16 50357568 50357571 + Frame_Shift_Del DEL ACAT ACAT - rs78557784 byFrequency TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr16:50357568_50357571delACAT ENST00000394689.2 - 12.0 1374_1377 c.1370_1373delATGT c.(1369-1374)tatgtcfs p.YV457fs BRD7_ENST00000394688.3_Frame_Shift_Del_p.YV457fs NM_001173984.2|NM_013263.4 NP_001167455.1|NP_037395.2 Q9NPI1 BRD7_HUMAN bromodomain containing 7 457.0 cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|nucleus (GO:0005634) histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22.0 all_cancers(37;0.0127) ATCTGCCATGACATACGGATAATC 0.436 0 SO:0001589 frameshift_variant AF213969 CCDS10742.1, CCDS54007.1 16q12.1 2008-11-18 2002-01-14 ENSG00000166164 ENSG00000166164 29117.0 29117.0 14310.0 protein-coding gene gene with protein product """bromodomain-containing 7""" 10526152, 18809673 Standard NM_013263 NM_013263 Approved CELTIX1, BP75 uc002ege.2 Q9NPI1 OTTHUMG00000133170 ENST00000394689.2:c.1370_1373delATGT 16.__UNKNOWN__:g.50357568_50357571delACAT ENSP00000378181:p.Tyr457fs Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59 __UNKNOWN__ CCDS54007.1 BRD7-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256875.3 - ENST00000394689.2 Frame_Shift_Del DEL PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 TMEM120A 83862 broad.mit.edu 37 7 75616893 75616893 + RNA DEL C C - TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr7:75616893delC ENST00000338761.4 - 0.0 900 TMEM120A_ENST00000493111.2_RNA Q9BXJ8 T120A_HUMAN transmembrane protein 120A integral component of membrane (GO:0016021) GAAGGTGAGGCCCCGCCACAT 0.632 0 24.0 34.0 30.0 7 75616893.0 2076.0 4185.0 6261.0 AF327923 CCDS64688.1 7q11.23 2009-11-06 ENSG00000189077 ENSG00000189077 83862.0 83862.0 21697.0 protein-coding gene gene with protein product Standard NM_031925 NM_031925 Approved TMPIT, NET29 uc003ued.3 Q9BXJ8 OTTHUMG00000156620 ENST00000338761.4: 7.__UNKNOWN__:g.75616893delC Q86TE9|Q8N6P1 __UNKNOWN__ TMEM120A-001 KNOWN basic processed_transcript polymorphic_pseudogene OTTHUMT00000344834.4 - ENST00000338761.4 RNA DEL PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 ENPP3 5169 bcgsc.ca 37 6 131962659 131962659 + Missense_Mutation SNP T T A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr6:131962659T>A ENST00000414305.1 + 3.0 471 c.143T>A c.(142-144)cTg>cAg p.L48Q ENPP3_ENST00000358229.5_Missense_Mutation_p.L48Q|ENPP3_ENST00000543135.1_Missense_Mutation_p.L14Q|ENPP3_ENST00000427148.2_Missense_Mutation_p.L14Q|ENPP3_ENST00000357639.3_Missense_Mutation_p.L48Q|ENPP3_ENST00000470930.1_3'UTR O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 48.0 immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471) metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044) 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) 53.0 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CTCAGGAAACTGGAAAAGCAA 0.403 0 90.0 91.0 91.0 6 131962659.0 2203.0 4300.0 6503.0 SO:0001583 missense AF005632 CCDS5148.1 6q22 2010-06-23 ENSG00000154269 ENSG00000154269 5169.0 5169.0 3.1.4.1, 3.6.1.9 """CD molecules""" 3358.0 protein-coding gene gene with protein product 602182 PDNP3 9344668 Standard NM_005021 Approved PD-IBETA, gp130RB13-6, B10, CD203c uc003qcv.3 O14638 OTTHUMG00000016292 ENST00000414305.1:c.143T>A 6.__UNKNOWN__:g.131962659T>A ENSP00000406261:p.Leu48Gln Q5JTL3 __UNKNOWN__ CCDS5148.1 . . . . . . . . . . t 2.257 -0.370229 0.05069 . . ENSG00000154269 ENST00000414305;ENST00000357639;ENST00000543135;ENST00000427148;ENST00000358229 T;T;T;T;T 0.74209 -0.74;-0.74;-0.71;-0.81;-0.82 5.74 -4.81 0.03180 . 0.964136 0.08572 N 0.925842 T 0.19287 0.0463 N 0.01705 -0.755 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.18023 -1.0350 10 0.28530 T 0.3 -0.0102 5.7384 0.18079 0.537:0.2335:0.0:0.2295 . 48 O14638 ENPP3_HUMAN Q 48;48;14;14;48 ENSP00000406261:L48Q;ENSP00000350265:L48Q;ENSP00000440810:L14Q;ENSP00000399269:L14Q;ENSP00000350964:L48Q ENSP00000350265:L48Q L + 2 0 ENPP3 132004352 0.000000 0.05858 0.005000 0.12908 0.108000 0.19459 -0.891000 0.04135 -0.514000 0.06488 -0.757000 0.03467 CTG ENPP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043627.2 + ENST00000414305.1 Missense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 FCRL5 83416 ucsc.edu 37 1 157504402 157504402 + Splice_Site SNP A A G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr1:157504402A>G ENST00000361835.3 - 8.0 1839 c.e8+1 FCRL5_ENST00000368190.3_Splice_Site|FCRL5_ENST00000368191.3_Splice_Site|FCRL5_ENST00000356953.4_Splice_Site|FCRL5_ENST00000368189.3_Silent_p.G561G NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) 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) 85.0 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CCCAGCACTTACCAGTGACAA 0.498 0 44.0 46.0 46.0 1 157504402.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AF369794 CCDS1165.1 1q21 2013-01-11 ENSG00000143297 ENSG00000143297 83416.0 83416.0 """CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 18508.0 protein-coding gene gene with protein product 605877 11027651, 11290337 Standard NM_031281 NM_031281 Approved FCRH5, IRTA2, BXMAS1, CD307e uc009wsm.3 Q96RD9 OTTHUMG00000017481 ENST00000361835.3:c.1681+1T>C 1.__UNKNOWN__:g.157504402A>G A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46 __UNKNOWN__ CCDS1165.1 . . . . . . . . . . A 12.18 1.861866 0.32884 . . ENSG00000143297 ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191 . . . 3.56 3.56 0.40772 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 8.6894 0.34258 1.0:0.0:0.0:0.0 . . . . . -1 . . . - . . FCRL5 155771026 0.998000 0.40836 0.687000 0.30102 0.054000 0.15201 2.205000 0.42770 1.608000 0.50180 0.402000 0.26972 . FCRL5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000046263.1 Intron - ENST00000361835.3 Splice_Site SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 PTPN4 5775 hgsc.bcm.edu 37 2 120684176 120684176 + Missense_Mutation SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr2:120684176G>A ENST00000263708.2 + 13.0 1775 c.1004G>A c.(1003-1005)gGg>gAg p.G335E NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 335.0 peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856) non-membrane spanning protein tyrosine phosphatase activity (GO:0004726) endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30.0 Alendronate(DB00630) TATTTCAGTGGGAGAACTGAA 0.313 0 96.0 104.0 101.0 2 120684176.0 2203.0 4297.0 6500.0 SO:0001583 missense CCDS2129.1 2q14.2 2011-06-09 ENSG00000088179 ENSG00000088179 5775.0 5775.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor""" 9656.0 protein-coding gene gene with protein product 176878 1648233 Standard NM_002830 Approved PTPMEG uc002tmf.2 P29074 OTTHUMG00000131436 ENST00000263708.2:c.1004G>A 2.__UNKNOWN__:g.120684176G>A ENSP00000263708:p.Gly335Glu B2RBV8|Q9UDA7 __UNKNOWN__ CCDS2129.1 . . . . . . . . . . G 26.7 4.762191 0.89932 . . ENSG00000088179 ENST00000263708 D 0.99930 -8.16 4.74 4.74 0.60224 FERM adjacent (FA) (1); 0.000000 0.85682 D 0.000000 D 0.99926 0.9966 M 0.89287 3.02 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.95718 0.8764 10 0.87932 D 0 . 18.2736 0.90076 0.0:0.0:1.0:0.0 . 335 P29074 PTN4_HUMAN E 335 ENSP00000263708:G335E ENSP00000263708:G335E G + 2 0 PTPN4 120400646 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 8.455000 0.90355 2.597000 0.87782 0.585000 0.79938 GGG PTPN4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254233.2 + ENST00000263708.2 Missense_Mutation SNP PCPG-TCGA-SA-A6C2-Normal-SM-5EMN8 ZNF286B 729288 broad.mit.edu 37 17 18565373 18565373 + Silent SNP A A G rs147985634 by1000genomes TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr17:18565373A>G ENST00000285274.5 - 0.0 1513 ZNF286B_ENST00000545289.1_Silent_p.L482L P0CG31 Z286B_HUMAN zinc finger protein 286B regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(1)|lung(1) 2.0 GATGTTGAATAAGAGCTGATG 0.388 0 164.0 151.0 155.0 17 18565373.0 692.0 1591.0 2283.0 SO:0001624 3_prime_UTR_variant CCDS58523.1 17p11.2 2013-01-08 ENSG00000249459 ENSG00000249459 729288.0 729288.0 """Zinc fingers, C2H2-type""" 33241.0 protein-coding gene gene with protein product """zinc finger protein 590""" """zinc finger protein 286-like"", ""zinc finger 286C pseudogene""" ZNF286L, ZNF286C Standard XM_001723047 NM_001145045 Approved ZNF590 uc010vyd.1 P0CG31 OTTHUMG00000178136 ENST00000285274.5:c.*1096T>C 17.__UNKNOWN__:g.18565373A>G __UNKNOWN__ ZNF286B-003 PUTATIVE basic protein_coding protein_coding OTTHUMT00000131052.3 - ENST00000285274.5 3'UTR SNP PCPG-TCGA-SP-A6QC-Normal-SM-5EMNM GLE1 2733 broad.mit.edu 37 9 131285068 131285068 + Missense_Mutation SNP A A T TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr9:131285068A>T ENST00000309971.4 + 4.0 660 c.554A>T c.(553-555)cAg>cTg p.Q185L GLE1_ENST00000539582.1_Intron|GLE1_ENST00000372770.4_Missense_Mutation_p.Q185L NM_001003722.1 NP_001003722.1 Q53GS7 GLE1_HUMAN GLE1 RNA export mediator 185.0 mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886) identical protein binding (GO:0042802) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 16.0 AAAGAATTCCAGGACTTGCGG 0.473 0 106.0 86.0 93.0 9 131285068.0 2203.0 4300.0 6503.0 SO:0001583 missense AF058922 CCDS6904.1, CCDS35154.1 9q34.13 2014-09-17 2013-06-18 2007-10-04 ENSG00000119392 ENSG00000119392 2733.0 2733.0 4315.0 protein-coding gene gene with protein product 603371.0 """GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)""" GLE1L, LCCS1 9618489, 18204449 Standard NM_001003722 NM_001499 Approved hGLE1 uc004bvj.3 Q53GS7 OTTHUMG00000020749 ENST00000309971.4:c.554A>T 9.__UNKNOWN__:g.131285068A>T ENSP00000308622:p.Gln185Leu O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6 __UNKNOWN__ CCDS35154.1 . . . . . . . . . . A 20.5 3.992858 0.74703 . . ENSG00000119392 ENST00000309971;ENST00000372770 T;T 0.68331 -0.32;0.09 5.91 4.75 0.60458 . 0.267157 0.44902 D 0.000406 T 0.71500 0.3347 L 0.61218 1.895 0.80722 D 1 P;D 0.55800 0.954;0.973 P;P 0.53861 0.548;0.736 T 0.70633 -0.4818 10 0.42905 T 0.14 -10.0789 10.2487 0.43356 0.9245:0.0:0.0755:0.0 . 185;185 Q53GS7;Q53GS7-2 GLE1_HUMAN;. L 185 ENSP00000308622:Q185L;ENSP00000361856:Q185L ENSP00000308622:Q185L Q + 2 0 GLE1 130324889 1.000000 0.71417 1.000000 0.80357 0.648000 0.38561 4.599000 0.61076 1.031000 0.39867 0.529000 0.55759 CAG GLE1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054456.1 + ENST00000309971.4 Missense_Mutation SNP PCPG-TCGA-SP-A6QC-Normal-SM-5EMNM MCM8 84515 broad.mit.edu 37 20 5933129 5933129 + Missense_Mutation SNP G G T TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr20:5933129G>T ENST00000378896.3 + 3.0 585 c.208G>T c.(208-210)Gat>Tat p.D70Y MCM8_ENST00000378886.2_Missense_Mutation_p.D70Y|MCM8_ENST00000378883.1_Missense_Mutation_p.D70Y|MCM8_ENST00000265187.4_Missense_Mutation_p.D70Y NM_001281520.1|NM_032485.4|NM_182802.1 NP_001268449.1|NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 70.0 cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278) MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23.0 GTCAACATTGGATCGATTCAT 0.338 0 106.0 121.0 116.0 20 5933129.0 2203.0 4299.0 6502.0 SO:0001583 missense AJ439063 CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1 20p12.3 2007-04-04 2007-04-04 2003-07-09 ENSG00000125885 ENSG00000125885 84515.0 84515.0 16147.0 protein-coding gene gene with protein product """REC homolog (Drosophila)""" 608187.0 """chromosome 20 open reading frame 154""" C20orf154 12527764 Standard NM_032485 NM_032485 Approved MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC uc002wmi.3 Q9UJA3 OTTHUMG00000031822 ENST00000378896.3:c.208G>T 20.__UNKNOWN__:g.5933129G>T ENSP00000368174:p.Asp70Tyr B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5 __UNKNOWN__ CCDS13094.1 . . . . . . . . . . G 20.7 4.042269 0.75732 . . ENSG00000125885 ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187 T;T;T;T 0.31510 1.49;1.49;1.49;1.49 6.07 6.07 0.98685 . 0.000000 0.85682 D 0.000000 T 0.53899 0.1825 M 0.68317 2.08 0.80722 D 1 D;D;P;P 0.61080 0.989;0.984;0.946;0.82 P;P;P;B 0.59643 0.861;0.73;0.771;0.39 T 0.51212 -0.8734 10 0.72032 D 0.01 -25.1445 20.6593 0.99626 0.0:0.0:1.0:0.0 . 70;70;70;70 Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3 .;.;.;MCM8_HUMAN Y 70 ENSP00000368174:D70Y;ENSP00000368161:D70Y;ENSP00000368164:D70Y;ENSP00000265187:D70Y ENSP00000265187:D70Y D + 1 0 MCM8 5881129 1.000000 0.71417 1.000000 0.80357 0.532000 0.34746 7.577000 0.82486 2.885000 0.99019 0.655000 0.94253 GAT MCM8-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000077900.1 + ENST00000378896.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QC-Normal-SM-5EMNM SCARB2 950 broad.mit.edu 37 4 77100808 77100808 + Silent SNP G G A TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr4:77100808G>A ENST00000452464.2 - 3.0 335 SCARB2_ENST00000264896.2_Silent_p.A158A NM_001204255.1 NP_001191184.1 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622) extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020) enzyme binding (GO:0019899)|receptor activity (GO:0004872) breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1) 22.0 Lung(101;0.196) CTTTCAACATGGCCTCGATGA 0.488 OREG0016231 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 216.0 203.0 207.0 4 77100808.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant D12676 CCDS3577.1, CCDS56335.1 4q21.1 2014-07-11 2002-09-06 2002-09-06 ENSG00000138760 ENSG00000138760 950.0 950.0 1665.0 protein-coding gene gene with protein product 602257.0 """CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)""" CD36L2 1374238 Standard NM_005506 NM_005506 Approved HLGP85, LIMPII, SR-BII, LIMP-2 uc003hju.2 Q14108 OTTHUMG00000130099 ENST00000452464.2:c.276-3745C>T 4.__UNKNOWN__:g.77100808G>A 1173.0 B4DKD8|E7EM68|Q53Y63 __UNKNOWN__ CCDS56335.1 SCARB2-002 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000362702.1 - ENST00000452464.2 Intron SNP PCPG-TCGA-SP-A6QC-Normal-SM-5EMNM PDZD2 23037 broad.mit.edu 37 5 32058106 32058106 + Silent SNP G G C TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr5:32058106G>C ENST00000438447.1 + 12.0 2485 c.2097G>C c.(2095-2097)ggG>ggC p.G699G PDZD2_ENST00000282493.3_Silent_p.G699G O15018 PDZD2_HUMAN PDZ domain containing 2 699.0 cell adhesion (GO:0007155) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148.0 ATACCAGTGGGGGAGCCTCAG 0.572 0 44.0 41.0 42.0 5 32058106.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB002298 CCDS34137.1 5p14.1 2008-02-05 2006-01-24 2006-01-24 ENSG00000133401 23037.0 23037.0 18486.0 protein-coding gene gene with protein product 610697.0 """PDZ domain containing 3""" PDZK3 9205841 Standard XM_005248271 Approved KIAA0300 uc003jhm.3 O15018 ENST00000438447.1:c.2097G>C 5.__UNKNOWN__:g.32058106G>C Q9BXD4 __UNKNOWN__ CCDS34137.1 PDZD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000366608.1 + ENST00000438447.1 Silent SNP PCPG-TCGA-SP-A6QC-Normal-SM-5EMNM PCYT2 5833 broad.mit.edu 37 17 79862805 79862805 + Silent SNP C C T TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr17:79862805C>T ENST00000538936.2 - 13.0 1182 c.1074G>A c.(1072-1074)gcG>gcA p.A358A PCYT2_ENST00000570388.1_Silent_p.A280A|PCYT2_ENST00000331285.3_Silent_p.A280A|PCYT2_ENST00000538721.2_Silent_p.A376A|PCYT2_ENST00000571105.1_Silent_p.A336A|PCYT2_ENST00000570391.1_Silent_p.A326A NM_001256435.1|NM_002861.3 NP_001243364.1|NP_002852.1 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 358.0 glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789) ethanolamine-phosphate cytidylyltransferase activity (GO:0004306) breast(2)|endometrium(1)|lung(4)|ovary(1) 8.0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) Lamivudine(DB00709) TCTGGTTTCGCGCCTCATACT 0.647 C 1.0 0.0005 0.002 2184.0 0.9999 , , 0.0003 0.0005 0.9135 EXOME 0.0007 SNP 0 C , 3,4397 6.2+/-15.9 0,3,2197 33.0 35.0 34.0 1128,1074 -9.3 0.0 17 34.0 0,8596 0,0,4298 no coding-synonymous,coding-synonymous PCYT2 NM_001184917.1,NM_002861.3 , 0,3,6495 TT,TC,CC 0.0,0.0682,0.0231 , 376/408,358/390 79862805.0 3,12993 2200.0 4298.0 6498.0 SO:0001819 synonymous_variant D84307 CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1 17q25.3 2008-07-18 ENSG00000185813 5833.0 5833.0 8756.0 protein-coding gene gene with protein product 602679.0 9083101 Standard NM_002861 XM_005256386 Approved ET uc002kch.2 Q99447 ENST00000538936.2:c.1074G>A 17.__UNKNOWN__:g.79862805C>T B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08 __UNKNOWN__ CCDS11791.1 PCYT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000439939.1 - ENST00000538936.2 Silent SNP PCPG-TCGA-SP-A6QC-Normal-SM-5EMNM FBXO28 23219 broad.mit.edu 37 1 224340859 224340859 + Missense_Mutation SNP T T C TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr1:224340859T>C ENST00000366862.5 + 4.0 575 c.532T>C c.(532-534)Tat>Cat p.Y178H FBXO28_ENST00000424254.2_Intron NM_015176.3 NP_055991.1 Q9NVF7 FBX28_HUMAN F-box protein 28 178.0 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1) 10.0 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) TGATGAGATTTATCGTGTGTT 0.343 0 93.0 100.0 98.0 1 224340859.0 2203.0 4300.0 6503.0 SO:0001583 missense AK001628 CCDS1539.1, CCDS44320.1 1q42.12 2011-08-12 ENSG00000143756 ENSG00000143756 23219.0 23219.0 """F-boxes / ""other""""" 29046.0 protein-coding gene gene with protein product """centromere protein 30""" 609100.0 9455484 Standard NM_015176 NM_015176 Approved FLJ10766, KIAA0483, Fbx28, CENP-30 uc001hoh.3 Q9NVF7 OTTHUMG00000037495 ENST00000366862.5:c.532T>C 1.__UNKNOWN__:g.224340859T>C ENSP00000355827:p.Tyr178His E9PEM8|O75070 __UNKNOWN__ CCDS1539.1 . . . . . . . . . . T 22.5 4.301313 0.81136 . . ENSG00000143756 ENST00000366862 . . . 6.06 6.06 0.98353 . 0.000000 0.85682 D 0.000000 T 0.68035 0.2957 L 0.38175 1.15 0.80722 D 1 D 0.71674 0.998 D 0.78314 0.991 T 0.68945 -0.5275 9 0.52906 T 0.07 -10.5427 15.8056 0.78506 0.0:0.0:0.0:1.0 . 178 Q9NVF7 FBX28_HUMAN H 178 . ENSP00000355827:Y178H Y + 1 0 FBXO28 222407482 1.000000 0.71417 1.000000 0.80357 0.977000 0.68977 7.422000 0.80217 2.323000 0.78572 0.528000 0.53228 TAT FBXO28-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000091283.2 + ENST00000366862.5 Missense_Mutation SNP PCPG-TCGA-SP-A6QC-Normal-SM-5EMNM LCE1E 353135 broad.mit.edu 37 1 152759824 152759824 + Missense_Mutation SNP A A C TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr1:152759824A>C ENST00000368770.3 + 2.0 102 c.49A>C c.(49-51)Act>Cct p.T17P LCE1E_ENST00000368771.1_Missense_Mutation_p.T17P NM_178353.1 NP_848130.1 Q5T753 LCE1E_HUMAN late cornified envelope 1E 17.0 Cys-rich. keratinization (GO:0031424) lung(5)|stomach(1) 6.0 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) tcccaagtgcactcccaagtg 0.602 0 102.0 108.0 106.0 1 152759824.0 2203.0 4300.0 6503.0 SO:0001583 missense BC038391 CCDS1024.1 1q21.3 2008-02-05 ENSG00000186226 ENSG00000186226 353135.0 353135.0 """Late cornified envelopes""" 29466.0 protein-coding gene gene with protein product 612607.0 11698679 Standard NM_178353 NM_178353 Approved LEP5 uc001fan.3 Q5T753 OTTHUMG00000012405 ENST00000368770.3:c.49A>C 1.__UNKNOWN__:g.152759824A>C ENSP00000357759:p.Thr17Pro D3DV30 __UNKNOWN__ CCDS1024.1 . . . . . . . . . . A 9.288 1.049982 0.19827 . . ENSG00000186226 ENST00000368771;ENST00000368770 T;T 0.03689 3.84;3.84 3.38 -3.26 0.05064 . . . . . T 0.00440 0.0014 N 0.00991 -1.07 0.20638 N 0.99988 B 0.02656 0.0 B 0.04013 0.001 T 0.48525 -0.9028 9 0.87932 D 0 . 6.8416 0.23965 0.2511:0.625:0.1239:0.0 . 17 Q5T753 LCE1E_HUMAN P 17 ENSP00000357760:T17P;ENSP00000357759:T17P ENSP00000357759:T17P T + 1 0 LCE1E 151026448 0.000000 0.05858 0.876000 0.34364 0.922000 0.55478 -1.901000 0.01597 -0.276000 0.09206 0.421000 0.28195 ACT LCE1E-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000034525.1 + ENST00000368770.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QC-Normal-SM-5EMNM IPO8 10526 broad.mit.edu 37 12 30792609 30792609 + Missense_Mutation SNP C C T TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr12:30792609C>T ENST00000544829.1 - 17.0 2038 c.1714G>A c.(1714-1716)Gag>Aag p.E572K IPO8_ENST00000256079.4_Missense_Mutation_p.E777K NM_001190995.1 NP_001177924.1 O15397 IPO8_HUMAN importin 8 777.0 intracellular protein transport (GO:0006886)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|nucleus (GO:0005634) Ran GTPase binding (GO:0008536) 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) 52.0 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) GTACGAAGCTCACTAGTTTTG 0.438 0 157.0 146.0 150.0 12 30792609.0 2203.0 4300.0 6503.0 SO:0001583 missense U77494 CCDS8719.1, CCDS53773.1 12p11.21 2011-05-23 2003-03-11 2003-03-14 ENSG00000133704 ENSG00000133704 10526.0 10526.0 """Importins""" 9853.0 protein-coding gene gene with protein product 605600.0 """RAN binding protein 8""" RANBP8 9214382 Standard NM_006390 NM_006390 Approved IMP8 uc001rjd.3 O15397 OTTHUMG00000169172 ENST00000544829.1:c.1714G>A 12.__UNKNOWN__:g.30792609C>T ENSP00000444520:p.Glu572Lys B7Z7M3 __UNKNOWN__ CCDS53773.1 . . . . . . . . . . C 36 5.603220 0.96614 . . ENSG00000133704 ENST00000256079;ENST00000545286;ENST00000544829 T;T 0.67171 -0.25;-0.25 5.27 5.27 0.74061 Armadillo-like helical (1);Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 D 0.82903 0.5138 M 0.84326 2.69 0.80722 D 1 D;D;D 0.89917 1.0;0.999;0.999 D;D;D 0.81914 0.995;0.989;0.983 T 0.81527 -0.0892 10 0.30078 T 0.28 -17.7455 18.8707 0.92313 0.0:1.0:0.0:0.0 . 572;253;777 B7Z7M3;Q59F59;O15397 .;.;IPO8_HUMAN K 777;253;572 ENSP00000256079:E777K;ENSP00000444520:E572K ENSP00000256079:E777K E - 1 0 IPO8 30683876 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 7.532000 0.81985 2.471000 0.83476 0.563000 0.77884 GAG IPO8-002 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000402699.1 - ENST00000544829.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QC-Normal-SM-5EMNM GAD1 2571 broad.mit.edu 37 2 171710489 171710489 + Missense_Mutation SNP G G A TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr2:171710489G>A ENST00000358196.3 + 14.0 1920 c.1370G>A c.(1369-1371)cGc>cAc p.R457H NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 457.0 gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268) clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506) glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35.0 CAGTGTGGCCGCCACGTGGAT 0.488 0 139.0 131.0 134.0 2 171710489.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS2239.1, CCDS2240.1 2q31 2008-02-05 2002-08-29 ENSG00000128683 ENSG00000128683 2571.0 2571.0 4.1.1.15 4092.0 protein-coding gene gene with protein product 605363.0 """glutamate decarboxylase 1 (brain, 67kD)""" GAD 1549570 Standard XM_005246443 Approved uc002ugi.3 Q99259 OTTHUMG00000044175 ENST00000358196.3:c.1370G>A 2.__UNKNOWN__:g.171710489G>A ENSP00000350928:p.Arg457His Q49AK1|Q53TQ7|Q9BU91|Q9UHH4 __UNKNOWN__ CCDS2239.1 . . . . . . . . . . G 35 5.476217 0.96291 . . ENSG00000128683 ENST00000358196 T 0.55760 0.5 5.8 5.8 0.92144 Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1); 0.049372 0.85682 D 0.000000 D 0.82733 0.5101 H 0.96398 3.815 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.87543 0.2460 10 0.87932 D 0 -13.4342 20.0706 0.97721 0.0:0.0:1.0:0.0 . 457 Q99259 DCE1_HUMAN H 457 ENSP00000350928:R457H ENSP00000350928:R457H R + 2 0 GAD1 171418735 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.476000 0.97823 2.744000 0.94065 0.655000 0.94253 CGC GAD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000102664.2 + ENST00000358196.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QC-Normal-SM-5EMNM SUSD4 55061 broad.mit.edu 37 1 223438145 223438146 + Missense_Mutation DNP AG AG CT TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr1:223438145_223438146AG>CT ENST00000343846.3 - 4.0 1183_1184 c.550_551CT>AG c.(550-552)CTa>AGa p.L184R SUSD4_ENST00000344029.6_Missense_Mutation_p.L184R|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.L184R|SUSD4_ENST00000494793.2_Missense_Mutation_p.L184R|SUSD4_ENST00000454695.2_Missense_Mutation_p.L24R|SUSD4_ENST00000484758.2_Missense_Mutation_p.L113R Q5VX71 SUSD4_HUMAN sushi domain containing 4 184.0 Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}. integral component of membrane (GO:0016021) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17.0 GBM - Glioblastoma multiforme(131;0.0611) AGAAGAGGCTAGAGGTCTCAGG 0.465 0 SO:0001583 missense AK096265 CCDS31034.1, CCDS41471.1 1q41 2008-05-14 ENSG00000143502 ENSG00000143502 55061.0 55061.0 25470.0 protein-coding gene gene with protein product 615827.0 12477932 Standard NM_017982 NM_017982 Approved FLJ10052 uc001hny.4 Q5VX71 OTTHUMG00000037936 ENST00000343846.3:c.550_551delinsCT 1.__UNKNOWN__:g.223438145_223438146delinsCT ENSP00000344219:p.Leu184Arg D3DTB9|Q6UX62|Q9BSR0|Q9NWG0 __UNKNOWN__ CCDS41471.1 SUSD4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000092592.2 - ENST00000343846.3 Missense_Mutation DNP PCPG-TCGA-SP-A6QC-Normal-SM-5EMNM VIT 5212 broad.mit.edu 37 2 37041349 37041349 + Missense_Mutation SNP G G A TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr2:37041349G>A ENST00000404084.1 + 13.0 1904 c.1738G>A c.(1738-1740)Gtt>Att p.V580I VIT_ENST00000389975.3_Missense_Mutation_p.V628I|VIT_ENST00000379241.3_Missense_Mutation_p.V606I|VIT_ENST00000497382.1_Missense_Mutation_p.V297I|VIT_ENST00000401530.1_Missense_Mutation_p.V607I|VIT_ENST00000379242.3_Missense_Mutation_p.V643I Q6UXI7 VITRN_HUMAN vitrin 628.0 VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}. extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811) interstitial matrix (GO:0005614) glycosaminoglycan binding (GO:0005539) autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57.0 all_hematologic(82;0.248) TGCGATAGGCGTTGCCTGGGC 0.512 0 G ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL 4,4402 8.1+/-20.4 0,4,2199 115.0 96.0 102.0 1882,1819,1816,1927 -1.6 0.0 2 102.0 0,8600 0,0,4300 no missense,missense,missense,missense VIT NM_001177969.1,NM_001177970.1,NM_001177971.1,NM_053276.3 29,29,29,29 0,4,6499 AA,AG,GG 0.0,0.0908,0.0308 benign,benign,benign,benign 628/679,607/658,606/657,643/694 37041349.0 4,13002 2203.0 4300.0 6503.0 SO:0001583 missense AF063833 CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1 2p22.2 2008-05-15 ENSG00000205221 ENSG00000205221 5212.0 5212.0 12697.0 protein-coding gene gene with protein product Standard NM_001177969 Approved uc002rpl.3 Q6UXI7 OTTHUMG00000152149 ENST00000404084.1:c.1738G>A 2.__UNKNOWN__:g.37041349G>A ENSP00000384154:p.Val580Ile A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0 __UNKNOWN__ . . . . . . . . . . G 6.727 0.502829 0.12822 9.08E-4 0.0 ENSG00000205221 ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530 T;T;T;T;T;T 0.79247 -1.25;-1.25;-1.25;-1.25;-1.25;-1.25 5.52 -1.62 0.08372 von Willebrand factor, type A (3); 0.416537 0.26677 N 0.023070 T 0.56819 0.2011 N 0.16201 0.385 0.09310 N 1 B;B;B;B 0.15141 0.008;0.002;0.008;0.012 B;B;B;B 0.12156 0.007;0.004;0.007;0.004 T 0.42649 -0.9439 10 0.25106 T 0.35 -3.4962 11.85 0.52405 0.5796:0.0:0.4204:0.0 . 607;606;628;643 E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4 .;.;VITRN_HUMAN;. I 643;628;297;580;606;607 ENSP00000368544:V643I;ENSP00000374625:V628I;ENSP00000417874:V297I;ENSP00000384154:V580I;ENSP00000368543:V606I;ENSP00000385658:V607I ENSP00000368543:V606I V + 1 0 VIT 36894853 0.704000 0.27836 0.000000 0.03702 0.504000 0.33889 1.206000 0.32321 -0.198000 0.10333 0.655000 0.94253 GTT VIT-003 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000325453.1 + ENST00000404084.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QC-Normal-SM-5EMNM DNAH2 146754 broad.mit.edu 37 17 7683487 7683487 + Missense_Mutation SNP G G A rs147216751 TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr17:7683487G>A ENST00000572933.1 + 37.0 7195 c.5735G>A c.(5734-5736)cGc>cAc p.R1912H DNAH2_ENST00000389173.2_Missense_Mutation_p.R1912H Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1912.0 AAA 1. {ECO:0000250}. cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) 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) 189.0 all_cancers(10;4.66e-07)|Prostate(122;0.081) TATGCTGGCCGCACAGAGCTT 0.463 0 G HIS/ARG 1,4405 2.1+/-5.4 0,1,2202 214.0 204.0 207.0 5735 5.3 1.0 17 dbSNP_134 207.0 1,8599 1.2+/-3.3 0,1,4299 no missense DNAH2 NM_020877.2 29 0,2,6501 AA,AG,GG 0.0116,0.0227,0.0154 probably-damaging 1912/4428 7683487.0 2,13004 2203.0 4300.0 6503.0 SO:0001583 missense U83570, AK128517 CCDS32551.1 17p13.1 2007-10-05 2006-09-04 ENSG00000183914 146754.0 146754.0 """Axonemal dyneins""" 2948.0 protein-coding gene gene with protein product 603333.0 """dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3""" DNHD3 9256245 Standard NM_020877 XM_005256470 Approved KIAA1503, FLJ46675 uc002giu.1 Q9P225 ENST00000572933.1:c.5735G>A 17.__UNKNOWN__:g.7683487G>A ENSP00000458355:p.Arg1912His A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42 __UNKNOWN__ CCDS32551.1 . . . . . . . . . . G 34 5.313707 0.95655 2.27E-4 1.16E-4 ENSG00000183914 ENST00000360606;ENST00000389173 T 0.15017 2.46 5.35 5.35 0.76521 ATPase, AAA+ type, core (1); 0.000000 0.85682 D 0.000000 T 0.57577 0.2063 H 0.95884 3.735 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.71461 -0.4586 10 0.87932 D 0 . 17.9933 0.89175 0.0:0.0:1.0:0.0 . 1912 Q9P225 DYH2_HUMAN H 1912 ENSP00000373825:R1912H ENSP00000353818:R1912H R + 2 0 DNAH2 7624212 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 7.590000 0.82653 2.785000 0.95823 0.655000 0.94253 CGC DNAH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000440241.1 + ENST00000572933.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QC-Normal-SM-5EMNM NT5C1A 84618 ucsc.edu 37 1 40131803 40131803 + Missense_Mutation SNP G G A TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr1:40131803G>A ENST00000235628.1 - 2.0 240 c.241C>T c.(241-243)Cgc>Tgc p.R81C NM_032526.1 NP_115915.1 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 81.0 adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) 5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166) breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15.0 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) AGCTGGTAGCGCACGTACTCC 0.582 G 1.0 0.0005 0.0028 2184.0 1.0 , , 0.0002 0.0005 1.0 EXOME 0.0004 SNP 0 135.0 100.0 112.0 1 40131803.0 2203.0 4300.0 6503.0 SO:0001583 missense AF331801 CCDS440.1 1p34.3-p33 2008-07-18 ENSG00000116981 ENSG00000116981 84618.0 84618.0 17819.0 protein-coding gene gene with protein product """cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA""" 610525 11133996, 11690631 Standard NM_032526 NM_032526 Approved CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201 uc001cdq.1 Q9BXI3 OTTHUMG00000009244 ENST00000235628.1:c.241C>T 1.__UNKNOWN__:g.40131803G>A ENSP00000235628:p.Arg81Cys Q3SYB9|Q5TG98|Q9BWT8 __UNKNOWN__ CCDS440.1 1 4.578754578754579E-4 0 0.0 1 0.0027624309392265192 0 0.0 0 0.0 G 21.1 4.096081 0.76870 . . ENSG00000116981 ENST00000235628 . . . 4.56 2.49 0.30216 . 0.296169 0.32901 N 0.005510 T 0.68714 0.3031 M 0.78049 2.395 0.52099 D 0.999942 D 0.62365 0.991 P 0.58970 0.849 T 0.71580 -0.4550 9 0.87932 D 0 -0.3575 9.0923 0.36619 0.0:0.119:0.6335:0.2474 . 81 Q9BXI3 5NT1A_HUMAN C 81 . ENSP00000235628:R81C R - 1 0 NT5C1A 39904390 0.982000 0.34865 1.000000 0.80357 0.998000 0.95712 1.959000 0.40412 1.040000 0.40099 0.650000 0.86243 CGC NT5C1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000025626.1 - ENST00000235628.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QC-Normal-SM-5EMNM RGS14 10636 broad.mit.edu 37 5 176798390 176798390 + Missense_Mutation SNP G G A TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr5:176798390G>A ENST00000408923.3 + 13.0 1564 c.1376G>A c.(1375-1377)cGc>cAc p.R459H RGS14_ENST00000506944.1_3'UTR NM_006480.4 NP_006471.2 O43566 RGS14_HUMAN regulator of G-protein signaling 14 459.0 cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070) cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922) GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1) 12.0 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTCCCTGCCGCAGCCAGGTG 0.607 NSCLC(47;353 1896 28036) 0 77.0 92.0 87.0 5 176798390.0 2036.0 4189.0 6225.0 SO:0001583 missense AF037195 CCDS43405.1 5q35.3 2008-02-05 2007-08-14 ENSG00000169220 ENSG00000169220 10636.0 10636.0 """Regulators of G-protein signaling""" 9996.0 protein-coding gene gene with protein product 602513.0 """regulator of G-protein signalling 14""" Standard NM_006480 NM_006480 Approved uc003mgf.3 O43566 OTTHUMG00000163324 ENST00000408923.3:c.1376G>A 5.__UNKNOWN__:g.176798390G>A ENSP00000386229:p.Arg459His O43565|Q506M1|Q6ZWA4|Q8TD62 __UNKNOWN__ CCDS43405.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 15.63|15.63 2.890070|2.890070 0.52014|0.52014 .|. .|. ENSG00000169220|ENSG00000169220 ENST00000511890|ENST00000408923;ENST00000336477 .|T .|0.38240 .|1.15 5.05|5.05 -7.32|-7.32 0.01436|0.01436 .|. .|1.424160 .|0.03949 .|N .|0.288202 T|T 0.16854|0.16854 0.0405|0.0405 N|N 0.19112|0.19112 0.55|0.55 0.09310|0.09310 N|N 1|1 .|B;B;B .|0.12630 .|0.006;0.004;0.002 .|B;B;B .|0.06405 .|0.002;0.001;0.001 T|T 0.12372|0.12372 -1.0550|-1.0550 5|10 .|0.17369 .|T .|0.5 -1.0E-4|-1.0E-4 2.6882|2.6882 0.05113|0.05113 0.4748:0.0934:0.2429:0.1889|0.4748:0.0934:0.2429:0.1889 .|. .|230;307;459 .|B3KUX0;O43566-5;O43566 .|.;.;RGS14_HUMAN T|H 330|459;240 .|ENSP00000386229:R459H .|ENSP00000336864:R240H A|R +|+ 1|2 0|0 RGS14|RGS14 176730996|176730996 0.000000|0.000000 0.05858|0.05858 0.001000|0.001000 0.08648|0.08648 0.652000|0.652000 0.38707|0.38707 -1.276000|-1.276000 0.02815|0.02815 -1.622000|-1.622000 0.01560|0.01560 -0.781000|-0.781000 0.03364|0.03364 GCA|CGC RGS14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000372676.1 + ENST00000408923.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QD-Normal-SM-5EMNT DNAH1 25981 broad.mit.edu 37 3 52406913 52406913 + Splice_Site SNP C C T TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr3:52406913C>T ENST00000420323.2 + 44.0 7090 c.6829C>T c.(6829-6831)Cgg>Tgg p.R2277W NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2277.0 AAA 3. {ECO:0000250}. cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612) axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62.0 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) TCCCCTCAGGCGGAAGGGTGT 0.617 0 66.0 70.0 69.0 3 52406913.0 1966.0 4136.0 6102.0 SO:0001630 splice_region_variant U61738 CCDS46842.1 3p21-p14 2008-02-05 2006-09-04 ENSG00000114841 ENSG00000114841 25981.0 25981.0 """Axonemal dyneins""" 2940.0 protein-coding gene gene with protein product 603332.0 """dynein, axonemal, heavy polypeptide 1""" 8812413, 9256245 Standard NM_015512 NM_015512 Approved XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11 uc011bef.2 Q9P2D7 OTTHUMG00000158378 ENST00000420323.2:c.6828-1C>T 3.__UNKNOWN__:g.52406913C>T B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7 __UNKNOWN__ CCDS46842.1 . . . . . . . . . . C 20.7 4.030110 0.75504 . . ENSG00000114841 ENST00000420323 T 0.44482 0.92 5.51 4.62 0.57501 . 1.561230 0.04370 N 0.358873 T 0.77011 0.4068 H 0.97962 4.115 0.58432 D 0.999997 D 0.76494 0.999 P 0.60415 0.874 T 0.66356 -0.5944 10 0.87932 D 0 . 10.4011 0.44231 0.2652:0.6054:0.1293:0.0 . 2277 C9JXH6 . W 2277 ENSP00000401514:R2277W ENSP00000401514:R2277W R + 1 2 DNAH1 52381953 1.000000 0.71417 1.000000 0.80357 0.936000 0.57629 1.396000 0.34531 1.304000 0.44892 0.655000 0.94253 CGG DNAH1-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350816.1 Missense_Mutation + ENST00000420323.2 Splice_Site SNP PCPG-TCGA-SP-A6QD-Normal-SM-5EMNT MDGA1 266727 broad.mit.edu 37 6 37622620 37622620 + Missense_Mutation SNP C C T TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr6:37622620C>T ENST00000434837.3 - 5.0 1846 c.668G>A c.(667-669)gGc>gAc p.G223D MDGA1_ENST00000297153.7_Missense_Mutation_p.G223D|MDGA1_ENST00000505425.1_Missense_Mutation_p.G223D NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 223.0 Ig-like 2. brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527) anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615) p.G223D(1) central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38.0 GTCTGGGATGCCGCACACGTT 0.597 1 Substitution - Missense(1) lung(1) 188.0 200.0 196.0 6 37622620.0 2180.0 4263.0 6443.0 SO:0001583 missense AF478693 CCDS47417.1 6p21 2013-01-29 ENSG00000112139 ENSG00000112139 266727.0 266727.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 19267.0 protein-coding gene gene with protein product 609626.0 15922729, 15019943 Standard NM_153487 Approved GPIM, MAMDC3 uc003onu.1 Q8NFP4 OTTHUMG00000014626 ENST00000434837.3:c.668G>A 6.__UNKNOWN__:g.37622620C>T ENSP00000402584:p.Gly223Asp A6NHG0|Q8NBE3 __UNKNOWN__ CCDS47417.1 . . . . . . . . . . C 23.9 4.475827 0.84640 . . ENSG00000112139 ENST00000434837;ENST00000297153;ENST00000505425 T;T;T 0.53423 0.62;0.62;0.62 5.72 5.72 0.89469 Immunoglobulin subtype (1);Immunoglobulin-like (1); 0.121135 0.36815 N 0.002387 T 0.42517 0.1206 L 0.46157 1.445 0.40481 D 0.98044 P 0.41420 0.749 P 0.45377 0.478 T 0.44345 -0.9334 10 0.72032 D 0.01 . 18.8574 0.92259 0.0:1.0:0.0:0.0 . 223 Q8NFP4 MDGA1_HUMAN D 223 ENSP00000402584:G223D;ENSP00000297153:G223D;ENSP00000422042:G223D ENSP00000297153:G223D G - 2 0 MDGA1 37730598 1.000000 0.71417 0.999000 0.59377 0.995000 0.86356 2.402000 0.44521 2.705000 0.92388 0.655000 0.94253 GGC MDGA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040419.3 - ENST00000434837.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QD-Normal-SM-5EMNT TRAFD1 10906 broad.mit.edu 37 12 112578648 112578648 + Missense_Mutation SNP C C T TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr12:112578648C>T ENST00000257604.5 + 5.0 880 c.263C>T c.(262-264)gCt>gTt p.A88V TRAFD1_ENST00000412615.2_Missense_Mutation_p.A88V NM_001143906.1 NP_001137378.1 O14545 TRAD1_HUMAN TRAF-type zinc finger domain containing 1 88.0 negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097) metal ion binding (GO:0046872) kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 17.0 TTGCGGCTTGCTGTCTGCCAG 0.468 0 70.0 66.0 68.0 12 112578648.0 2203.0 4300.0 6503.0 SO:0001583 missense AB007447 CCDS9160.1 12q24.13 2013-01-25 ENSG00000135148 ENSG00000135148 10906.0 10906.0 24808.0 protein-coding gene gene with protein product 613197.0 12477932 Standard NM_006700 NM_006700 Approved FLN29 uc001ttp.3 O14545 OTTHUMG00000169640 ENST00000257604.5:c.263C>T 12.__UNKNOWN__:g.112578648C>T ENSP00000257604:p.Ala88Val A8K5L6|B4DI89 __UNKNOWN__ CCDS9160.1 . . . . . . . . . . C 11.19 1.565536 0.27915 . . ENSG00000135148 ENST00000412615;ENST00000549358;ENST00000257604;ENST00000552896 T;T;T;T 0.03212 4.01;4.01;4.01;4.01 5.7 4.81 0.61882 . 0.249292 0.42053 D 0.000772 T 0.01870 0.0059 N 0.03281 -0.365 0.41055 D 0.985335 P;P 0.40619 0.724;0.584 B;B 0.43155 0.41;0.262 T 0.53961 -0.8364 10 0.02654 T 1 -16.7071 8.3614 0.32361 0.0:0.7809:0.0:0.2191 . 88;88 F8VNX8;O14545 .;TRAD1_HUMAN V 88 ENSP00000396526:A88V;ENSP00000449319:A88V;ENSP00000257604:A88V;ENSP00000450357:A88V ENSP00000257604:A88V A + 2 0 TRAFD1 111063031 0.856000 0.29760 1.000000 0.80357 0.993000 0.82548 1.343000 0.33930 2.695000 0.91970 0.563000 0.77884 GCT TRAFD1-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405214.1 + ENST00000257604.5 Missense_Mutation SNP PCPG-TCGA-SP-A6QD-Normal-SM-5EMNT PDPN 10630 broad.mit.edu 37 1 13910449 13910449 + Missense_Mutation SNP G G C TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr1:13910449G>C ENST00000294489.6 + 1.0 490 c.149G>C c.(148-150)tGg>tCg p.W50S PDPN_ENST00000376057.4_Missense_Mutation_p.W50S podoplanin endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16.0 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) CTGGGCCTGTGGCCGCGGTGC 0.657 0 21.0 22.0 21.0 1 13910449.0 2203.0 4300.0 6503.0 SO:0001583 missense AB127958, AY194238 CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1 1p36.21 2008-02-05 ENSG00000162493 ENSG00000162493 10630.0 10630.0 29602.0 protein-coding gene gene with protein product """lung type I cell membrane associated glycoprotein""" 608863.0 10393083, 9651190 Standard NM_006474 NM_006474 Approved T1A-2, Gp38, aggrus, GP40, PA2.26 uc001avd.3 Q86YL7 OTTHUMG00000007912 ENST00000294489.6:c.149G>C 1.__UNKNOWN__:g.13910449G>C ENSP00000294489:p.Trp50Ser __UNKNOWN__ CCDS30602.1 . . . . . . . . . . G 12.07 1.828271 0.32329 . . ENSG00000162493 ENST00000294489;ENST00000376057;ENST00000510906 T;T;T 0.41400 1.0;1.0;1.0 4.79 3.86 0.44501 . 1.685470 0.04267 N 0.341401 T 0.37865 0.1019 N 0.08118 0 0.23962 N 0.996333 P;P 0.49635 0.926;0.926 P;P 0.52481 0.7;0.7 T 0.42916 -0.9423 10 0.87932 D 0 . 8.2749 0.31866 0.1075:0.0:0.8925:0.0 . 50;50 Q86YL7-3;Q86YL7-4 .;. S 50;50;41 ENSP00000294489:W50S;ENSP00000365225:W50S;ENSP00000426302:W41S ENSP00000294489:W50S W + 2 0 PDPN 13783036 0.000000 0.05858 0.020000 0.16555 0.143000 0.21401 0.214000 0.17541 2.347000 0.79759 0.563000 0.77884 TGG PDPN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000021783.2 + ENST00000294489.6 Missense_Mutation SNP PCPG-TCGA-SP-A6QD-Normal-SM-5EMNT OR8H3 390152 broad.mit.edu 37 11 55890333 55890333 + Missense_Mutation SNP C C T TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr11:55890333C>T ENST00000313472.3 + 1.0 485 c.485C>T c.(484-486)tCc>tTc p.S162F NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 162.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.S162Y(1)|p.S162F(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42.0 Esophageal squamous(21;0.00693) AATGTGGTTTCCATGAGCAGA 0.438 2 Substitution - Missense(2) lung(1)|skin(1) 238.0 211.0 221.0 11 55890333.0 2201.0 4296.0 6497.0 SO:0001583 missense AB065840 CCDS31519.1 11q11 2012-08-09 ENSG00000181761 ENSG00000181761 390152.0 390152.0 """GPCR / Class A : Olfactory receptors""" 15309.0 protein-coding gene gene with protein product Standard NM_001005201 NM_001005201 Approved uc001nii.1 Q8N146 OTTHUMG00000166833 ENST00000313472.3:c.485C>T 11.__UNKNOWN__:g.55890333C>T ENSP00000323928:p.Ser162Phe Q6IFB7 __UNKNOWN__ CCDS31519.1 . . . . . . . . . . C 0.003 -2.560318 0.00136 . . ENSG00000181761 ENST00000313472 T 0.00054 8.8 3.62 -7.21 0.01490 GPCR, rhodopsin-like superfamily (1); 0.596206 0.16347 N 0.218385 T 0.00039 0.0001 N 0.05487 -0.04 0.09310 N 1 B 0.02656 0.0 B 0.10450 0.005 T 0.39583 -0.9607 10 0.08179 T 0.78 . 1.7399 0.02950 0.1303:0.2854:0.1446:0.4398 . 162 Q8N146 OR8H3_HUMAN F 162 ENSP00000323928:S162F ENSP00000323928:S162F S + 2 0 OR8H3 55646909 0.000000 0.05858 0.000000 0.03702 0.068000 0.16541 -0.028000 0.12350 -0.801000 0.04427 -1.402000 0.01139 TCC OR8H3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000391541.1 + ENST00000313472.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QD-Normal-SM-5EMNT KIF20A 10112 broad.mit.edu 37 5 137518596 137518596 + Missense_Mutation SNP G G A TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr5:137518596G>A ENST00000394894.3 + 7.0 975 c.749G>A c.(748-750)cGg>cAg p.R250Q KIF20A_ENST00000508792.1_Missense_Mutation_p.R232Q NM_005733.2 NP_005724.1 O95235 KI20A_HUMAN kinesin family member 20A 250.0 Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}. ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192) Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1) 27.0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ATCGAAAGTCGGATAGGTACC 0.537 0 80.0 74.0 76.0 5 137518596.0 2203.0 4300.0 6503.0 SO:0001583 missense AF070672 CCDS4199.1 5q31 2008-02-05 2003-01-13 2003-01-17 ENSG00000112984 ENSG00000112984 10112.0 10112.0 """Kinesins""" 9787.0 protein-coding gene gene with protein product 605664.0 """RAB6 interacting, kinesin-like (rabkinesin6)""" RAB6KIFL 11416179, 10806357 Standard NM_005733 NM_005733 Approved uc003lcj.3 O95235 OTTHUMG00000129195 ENST00000394894.3:c.749G>A 5.__UNKNOWN__:g.137518596G>A ENSP00000378356:p.Arg250Gln B4DL79|D3DQB6 __UNKNOWN__ CCDS4199.1 . . . . . . . . . . G 13.58 2.278155 0.40294 . . ENSG00000112984 ENST00000394894;ENST00000508792 T;T 0.70516 -0.45;-0.49 4.88 3.0 0.34707 Kinesin, motor domain (3); 0.175252 0.26824 N 0.022318 T 0.52125 0.1715 L 0.37697 1.125 0.50813 D 0.999896 P;B 0.34587 0.458;0.004 B;B 0.26770 0.073;0.012 T 0.48258 -0.9051 10 0.30078 T 0.28 -12.7674 7.2465 0.26125 0.2025:0.1334:0.6641:0.0 . 232;250 B4DL79;O95235 .;KI20A_HUMAN Q 250;232 ENSP00000378356:R250Q;ENSP00000420880:R232Q ENSP00000378356:R250Q R + 2 0 KIF20A 137546495 0.996000 0.38824 1.000000 0.80357 0.991000 0.79684 0.893000 0.28336 1.286000 0.44565 0.655000 0.94253 CGG KIF20A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251272.1 + ENST00000394894.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QD-Normal-SM-5EMNT FIG4 9896 broad.mit.edu 37 6 110036319 110036319 + Silent SNP A A G TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr6:110036319A>G ENST00000230124.3 + 2.0 229 c.105A>G c.(103-105)aaA>aaG p.K35K FIG4_ENST00000441478.2_5'UTR NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 phosphoinositide 5-phosphatase 35.0 cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033) early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902) phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812) central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32.0 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) CAGAAACGAAATATCGTGTCT 0.323 0 84.0 85.0 85.0 6 110036319.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D87464 CCDS5078.1 6q21 2014-09-17 2014-08-04 2007-07-30 ENSG00000112367 ENSG00000112367 9896.0 9896.0 16873.0 protein-coding gene gene with protein product 609390.0 """KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)""" KIAA0274 9039502, 11274189, 17572665 Standard NM_014845 NM_014845 Approved SAC3, hSac3, dJ249I4.1, ALS11, CMT4J uc003ptt.2 Q92562 OTTHUMG00000015352 ENST00000230124.3:c.105A>G 6.__UNKNOWN__:g.110036319A>G Q53H49|Q5TCS6 __UNKNOWN__ CCDS5078.1 FIG4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041768.1 + ENST00000230124.3 Silent SNP PCPG-TCGA-SP-A6QD-Normal-SM-5EMNT TPBG 7162 broad.mit.edu 37 6 83075102 83075102 + Frame_Shift_Del DEL C C - TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr6:83075102delC ENST00000369750.3 + 2.0 1041 c.424delC c.(424-426)cccfs p.P142fs TPBG_ENST00000535040.1_Frame_Shift_Del_p.P142fs|TPBG_ENST00000543496.1_Frame_Shift_Del_p.P142fs Q13641 TPBG_HUMAN trophoblast glycoprotein 142.0 cell adhesion (GO:0007155) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15.0 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) CGAGCATCTGCCCAGCCTGCG 0.736 0 35.0 38.0 37.0 6 83075102.0 2203.0 4299.0 6502.0 SO:0001589 frameshift_variant AJ012159 CCDS4995.1 6q14-q15 2008-07-29 ENSG00000146242 ENSG00000146242 7162.0 7162.0 12004.0 protein-coding gene gene with protein product 190920.0 8132670 Standard NM_006670 Approved 5T4-AG, 5T4 uc003pjo.3 Q13641 OTTHUMG00000015103 ENST00000369750.3:c.424delC 6.__UNKNOWN__:g.83075102delC ENSP00000358765:p.Pro142fs A8K555 __UNKNOWN__ CCDS4995.1 TPBG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041340.1 + ENST00000369750.3 Frame_Shift_Del DEL PCPG-TCGA-SP-A6QD-Normal-SM-5EMNT HIBADH 11112 ucsc.edu 37 7 27565950 27565950 + Silent SNP G G A TCGA-SP-A6QD-01A-12D-A35I-08 TCGA-SP-A6QD-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq bc13a3fa-5a66-4287-99d1-e5d1990c8898 7cffcf76-88ba-43cb-a4b6-718ca08a9ba0 g.chr7:27565950G>A ENST00000265395.2 - 8.0 1100 c.894C>T c.(892-894)agC>agT p.S298S NM_152740.3 NP_689953.1 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase 298.0 branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574) mitochondrial matrix (GO:0005759) 3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616) endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1) 12.0 GBM - Glioblastoma multiforme(3;0.0368) GAAGGATTGGGCTCTTTGTGC 0.493 0 102.0 83.0 89.0 7 27565950.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF529362 CCDS5414.1 7p15 2009-06-12 ENSG00000106049 ENSG00000106049 11112.0 11112.0 1.1.1.31 4907.0 protein-coding gene gene with protein product 608475 Standard NM_152740 NM_152740 Approved NS5ATP1 uc003szf.3 P31937 OTTHUMG00000097035 ENST00000265395.2:c.894C>T 7.__UNKNOWN__:g.27565950G>A Q546Z2|Q9UDN3 __UNKNOWN__ CCDS5414.1 HIBADH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214132.1 - ENST00000265395.2 Silent SNP PCPG-TCGA-SP-A6QD-Normal-SM-5EMNT RABGGTA 5875 broad.mit.edu 37 14 24738839 24738839 + Missense_Mutation SNP C C A TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr14:24738839C>A ENST00000560777.1 - 0.0 110 RABGGTA_ENST00000559586.1_5'UTR|RABGGTA_ENST00000216840.6_Missense_Mutation_p.E163D|RABGGTA_ENST00000399409.3_Missense_Mutation_p.E163D Q92696 PGTA_HUMAN Rab geranylgeranyltransferase, alpha subunit cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601) Rab-protein geranylgeranyltransferase complex (GO:0005968) Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12.0 GBM - Glioblastoma multiforme(265;0.0184) TGAAGGCTAGCTCTTCTGCAG 0.592 0 52.0 62.0 58.0 14 24738839.0 2087.0 4201.0 6288.0 SO:0001623 5_prime_UTR_variant CCDS45088.1 14q11.2 2011-06-27 ENSG00000100949 5875.0 5875.0 """Prenyltransferase alpha subunit repeat containing""" 9795.0 protein-coding gene gene with protein product """protein prenyltransferase alpha subunit repeat containing 3""" 601905.0 8954794 Standard NM_182836 NM_182836 Approved PTAR3 uc001wog.4 Q92696 ENST00000560777.1:c.-509G>T 14.__UNKNOWN__:g.24738839C>A A8K5N2|D3DS69 __UNKNOWN__ . . . . . . . . . . C 20.1 3.934463 0.73442 . . ENSG00000100949 ENST00000216840;ENST00000399409;ENST00000543002 T;T 0.58506 0.33;0.33 5.4 3.4 0.38934 Protein prenyltransferase (1); 0.000000 0.85682 D 0.000000 T 0.77711 0.4171 M 0.92784 3.345 0.80722 D 1 D 0.65815 0.995 D 0.71184 0.972 T 0.77819 -0.2446 10 0.72032 D 0.01 -15.1651 7.9954 0.30265 0.0:0.7003:0.0:0.2997 . 163 Q92696 PGTA_HUMAN D 163;163;126 ENSP00000216840:E163D;ENSP00000382341:E163D ENSP00000216840:E163D E - 3 2 RABGGTA 23808679 0.998000 0.40836 0.941000 0.38009 0.991000 0.79684 0.530000 0.23036 0.505000 0.28104 0.561000 0.74099 GAG RABGGTA-012 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000415320.1 - ENST00000560777.1 5'UTR SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 SPTB 6710 broad.mit.edu 37 14 65260383 65260383 + Silent SNP G G C TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr14:65260383G>C ENST00000556626.1 - 14.0 2140 c.1998C>G c.(1996-1998)ggC>ggG p.G666G SPTB_ENST00000542895.1_Silent_p.G666G|SPTB_ENST00000389720.3_Silent_p.G666G|SPTB_ENST00000389722.3_Silent_p.G666G|SPTB_ENST00000389721.5_Silent_p.G666G P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 666.0 actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779) actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200) 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) 106.0 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) TCAGGTCTTTGCCATAGTCCA 0.537 0 122.0 88.0 100.0 14 65260383.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS32099.1, CCDS32100.1 14q24.1-q24.2 2013-01-10 2008-07-29 ENSG00000070182 6710.0 6710.0 """Pleckstrin homology (PH) domain containing""" 11274.0 protein-coding gene gene with protein product """spherocytosis, clinical type I""" 182870.0 2209094 Standard NM_001024858 Approved uc001xhr.3 P11277 ENST00000556626.1:c.1998C>G 14.__UNKNOWN__:g.65260383G>C Q15510|Q15519 __UNKNOWN__ CCDS32099.1 SPTB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000414076.1 - ENST00000556626.1 Silent SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 KIAA1199 57214 broad.mit.edu 37 15 81224299 81224299 + Silent SNP C C T TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr15:81224299C>T ENST00000394685.3 + 22.0 3131 c.2712C>T c.(2710-2712)agC>agT p.S904S RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Silent_p.S904S|KIAA1199_ENST00000220244.3_Silent_p.S904S Q8WUJ3 CEMIP_HUMAN 904.0 hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605) clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886) clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415) breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49.0 GGCACACCAGCGCCCTGGCCT 0.557 0 C 0,4406 0,0,2203 87.0 98.0 94.0 2712 -3.5 1.0 15 94.0 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous KIAA1199 NM_018689.1 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 904/1362 81224299.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant ENST00000394685.3:c.2712C>T 15.__UNKNOWN__:g.81224299C>T Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1 __UNKNOWN__ CCDS10315.1 KIAA1199-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000291389.1 + ENST00000394685.3 Silent SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 C2orf73 129852 broad.mit.edu 37 2 54587376 54587376 + Missense_Mutation SNP G G A TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr2:54587376G>A ENST00000398634.2 + 5.0 583 c.541G>A c.(541-543)Ggc>Agc p.G181S C2orf73_ENST00000405749.1_Intron|C2orf73_ENST00000491538.1_3'UTR NM_001100396.1 NP_001093866.1 Q8N5S3 CB073_HUMAN chromosome 2 open reading frame 73 181.0 breast(2) 2.0 GATAAAACCAGGCAGTAGGCC 0.453 0 50.0 49.0 49.0 2 54587376.0 1916.0 4130.0 6046.0 SO:0001583 missense BC031669, AK097617 CCDS46285.1 2p16.2 2008-07-07 ENSG00000177994 ENSG00000177994 129852.0 129852.0 26861.0 protein-coding gene gene with protein product 14702039 Standard NM_001100396 NM_001100396 Approved FLJ40298 uc002rxt.1 Q8N5S3 OTTHUMG00000151826 ENST00000398634.2:c.541G>A 2.__UNKNOWN__:g.54587376G>A ENSP00000381631:p.Gly181Ser A0AV79|A0AV81|Q8N7V4 __UNKNOWN__ CCDS46285.1 . . . . . . . . . . G 15.87 2.959567 0.53400 . . ENSG00000177994 ENST00000486488;ENST00000398634;ENST00000447328 T;T;T 0.49139 0.79;0.79;0.79 5.35 2.52 0.30459 . 0.490355 0.20488 N 0.091347 T 0.39091 0.1065 L 0.39898 1.24 0.33418 D 0.579464 P;P 0.52316 0.952;0.952 P;P 0.46659 0.523;0.523 T 0.45818 -0.9235 10 0.11182 T 0.66 -33.6433 11.0889 0.48104 0.2721:0.0:0.7279:0.0 . 123;181 B7ZM12;Q8N5S3 .;CB073_HUMAN S 187;181;123 ENSP00000417971:G187S;ENSP00000381631:G181S;ENSP00000389570:G123S ENSP00000381631:G181S G + 1 0 C2orf73 54440880 0.998000 0.40836 1.000000 0.80357 0.997000 0.91878 1.611000 0.36879 0.740000 0.32651 0.650000 0.86243 GGC C2orf73-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000324075.2 + ENST00000398634.2 Missense_Mutation SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 DNAH5 1767 broad.mit.edu 37 5 13735426 13735426 + Missense_Mutation SNP C C T TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr5:13735426C>T ENST00000265104.4 - 68.0 11679 c.11575G>A c.(11575-11577)Gtc>Atc p.V3859I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3859.0 cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986) axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) 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) 378.0 Lung NSC(4;0.00476) GGGCTCTTGACAGACCTGGTG 0.408 Kartagener syndrome 0 64.0 56.0 58.0 5 13735426.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome AJ132090 CCDS3882.1 5p15.2 2008-07-18 2006-09-04 ENSG00000039139 ENSG00000039139 1767.0 1767.0 """Axonemal dyneins""" 2950.0 protein-coding gene gene with protein product """dynein heavy chain 5""" 603335.0 """dynein, axonemal, heavy polypeptide 5""" 9256245, 11788826 Standard NM_001369 NM_001369 Approved Dnahc5, HL1, PCD, CILD3, KTGNR uc003jfd.2 Q8TE73 OTTHUMG00000090533 ENST00000265104.4:c.11575G>A 5.__UNKNOWN__:g.13735426C>T ENSP00000265104:p.Val3859Ile Q92860|Q96L74|Q9H5S7|Q9HCG9 __UNKNOWN__ CCDS3882.1 . . . . . . . . . . C 14.77 2.635747 0.47049 . . ENSG00000039139 ENST00000265104 D 0.86497 -2.13 6.05 5.17 0.71159 . 0.305544 0.31061 N 0.008322 T 0.81673 0.4872 L 0.39898 1.24 0.25667 N 0.985935 B 0.02656 0.0 B 0.09377 0.004 T 0.69624 -0.5095 10 0.39692 T 0.17 . 13.0652 0.59030 0.0:0.8747:0.0:0.1253 . 3859 Q8TE73 DYH5_HUMAN I 3859 ENSP00000265104:V3859I ENSP00000265104:V3859I V - 1 0 DNAH5 13788426 0.998000 0.40836 1.000000 0.80357 0.878000 0.50629 1.446000 0.35090 2.878000 0.98634 0.650000 0.86243 GTC DNAH5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207057.2 - ENST00000265104.4 Missense_Mutation SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 COL2A1 1280 broad.mit.edu 37 12 48387610 48387610 + Silent SNP C C T TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr12:48387610C>T ENST00000380518.3 - 14.0 1070 c.906G>A c.(904-906)gcG>gcA p.A302A COL2A1_ENST00000337299.6_Silent_p.A233A NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 302.0 Triple-helical region. Missing (in STL1). {ECO:0000269|PubMed:7977371}. axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601) basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615) extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64.0 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CAGGAGCACCCGCCTCTCCCT 0.542 0 GRCh37 CD001475 COL2A1 D 70.0 68.0 69.0 12 48387610.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X16468 CCDS8759.1, CCDS41778.1 12q12-q13.2 2013-11-14 2008-02-04 ENSG00000139219 ENSG00000139219 1280.0 1280.0 """Collagens""" 2200.0 protein-coding gene gene with protein product 120140.0 """collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)""" SEDC, AOM 1677770 Standard NM_001844 NM_033150 Approved STL1 uc001rqu.3 P02458 OTTHUMG00000149896 ENST00000380518.3:c.906G>A 12.__UNKNOWN__:g.48387610C>T A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43 __UNKNOWN__ CCDS41778.1 COL2A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313810.2 - ENST00000380518.3 Silent SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 SUCO 51430 broad.mit.edu 37 1 172557937 172557937 + Missense_Mutation SNP C C T TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr1:172557937C>T ENST00000263688.3 + 18.0 1915 c.1696C>T c.(1696-1698)Ccg>Tcg p.P566S SUCO_ENST00000608151.1_Missense_Mutation_p.P718S|SUCO_ENST00000610051.1_Missense_Mutation_p.P529S|SUCO_ENST00000367723.4_Missense_Mutation_p.P717S NM_014283.3 NP_055098.1 Q9UBS9 SUCO_HUMAN SUN domain containing ossification factor 566.0 multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850) integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791) TGACATGGAGCCGTCAACACC 0.403 0 52.0 42.0 46.0 1 172557937.0 2203.0 4299.0 6502.0 SO:0001583 missense AF097535 CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1 1q24 2012-07-10 2012-07-10 2012-07-10 ENSG00000094975 ENSG00000094975 51430.0 51430.0 1240.0 protein-coding gene gene with protein product """SUN-like protein 1"", ""osteopotentia""" """chromosome 1 open reading frame 9""" C1orf9 10673381, 20440000 Standard NM_016227 NM_001282750 Approved CH1, SLP1, OPT uc001giq.4 Q9UBS9 OTTHUMG00000034839 ENST00000263688.3:c.1696C>T 1.__UNKNOWN__:g.172557937C>T ENSP00000263688:p.Pro566Ser B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04 __UNKNOWN__ CCDS1303.1 . . . . . . . . . . C 2.843 -0.240094 0.05944 . . ENSG00000094975 ENST00000367723;ENST00000263688 . . . 5.44 0.313 0.15842 . 0.821258 0.11658 N 0.542120 T 0.06917 0.0176 N 0.20685 0.6 0.09310 N 1 B;B;B;B 0.16166 0.0;0.001;0.016;0.001 B;B;B;B 0.09377 0.0;0.002;0.004;0.003 T 0.41161 -0.9524 9 0.10111 T 0.7 1.5436 5.3813 0.16194 0.0:0.4914:0.1331:0.3755 . 529;566;718;566 B4DYM4;B4DZJ3;Q5H945;Q9UBS9 .;.;.;OSPT_HUMAN S 718;566 . ENSP00000263688:P566S P + 1 0 C1orf9 170824560 0.035000 0.19736 0.002000 0.10522 0.445000 0.32107 0.179000 0.16840 -0.196000 0.10366 0.557000 0.71058 CCG SUCO-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000084273.1 + ENST00000263688.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 RASSF1 11186 broad.mit.edu 37 3 50369084 50369084 + Silent SNP T T A TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr3:50369084T>A ENST00000357043.2 - 4.0 713 c.678A>T c.(676-678)gcA>gcT p.A226A RASSF1_ENST00000395126.3_Silent_p.A71A|RASSF1_ENST00000327761.3_Silent_p.A152A|RASSF1_ENST00000359365.4_Silent_p.A222A Ras association (RalGDS/AF-6) domain family member 1 lung(2)|ovary(1)|skin(1)|urinary_tract(1) 5.0 BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TGACTTCACGTGCCCTTGTGC 0.617 0 85.0 90.0 88.0 3 50369084.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF132675 CCDS2820.1, CCDS2821.1, CCDS2822.1, CCDS43096.1 3p21.3 2008-02-22 2008-02-22 ENSG00000068028 ENSG00000068028 11186.0 11186.0 9882.0 protein-coding gene gene with protein product 605082.0 Standard NM_170713 Approved NORE2A, REH3P21, RDA32, 123F2 uc003dad.1 Q9NS23 OTTHUMG00000149958 ENST00000357043.2:c.678A>T 3.__UNKNOWN__:g.50369084T>A __UNKNOWN__ CCDS2820.1 RASSF1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000314304.1 - ENST00000357043.2 Silent SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 SIGLEC5 8778 broad.mit.edu 37 19 52130952 52130952 + Silent SNP G G A TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr19:52130952G>A ENST00000534261.2 - 7.0 1444 c.1045C>T c.(1045-1047)Ctg>Ttg p.L349L SIGLEC5_ENST00000599649.1_Silent_p.L349L|SIGLEC5_ENST00000570106.2_Silent_p.L349L|SIGLEC5_ENST00000429354.3_Silent_p.L349L|SIGLEC5_ENST00000222107.4_Silent_p.L349L O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 349.0 cell adhesion (GO:0007155) integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27.0 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) CTGCAGTGCAGACCCTCAGCC 0.647 0 11.0 13.0 12.0 19 52130952.0 2181.0 4283.0 6464.0 SO:0001819 synonymous_variant U71383 CCDS33088.1 19q13.41 2013-01-29 ENSG00000105501 ENSG00000105501 8778.0 8778.0 """Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 10874.0 protein-coding gene gene with protein product 604200.0 CD33L2 10343116 Standard NM_003830 NM_003830 Approved OB-BP2, SIGLEC-5, CD170 uc002pxe.4 O15389 OTTHUMG00000165510 ENST00000534261.2:c.1045C>T 19.__UNKNOWN__:g.52130952G>A __UNKNOWN__ CCDS33088.1 SIGLEC5-001 PUTATIVE basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466897.2 - ENST00000534261.2 Silent SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 COPS5 10987 broad.mit.edu 37 8 67971510 67971510 + Missense_Mutation SNP G G C TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr8:67971510G>C ENST00000517736.1 - 2.0 683 c.122C>G c.(121-123)aCc>aGc p.T41S COPS5_ENST00000357849.4_Missense_Mutation_p.T105S Q92905 CSN5_HUMAN COP9 signalosome subunit 5 105.0 cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413) cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021) metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843) p.T105I(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3) 14.0 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153) ATTTACTCGGGTTTCAGTGCC 0.418 1 Substitution - Missense(1) skin(1) 150.0 121.0 131.0 8 67971510.0 2203.0 4300.0 6503.0 SO:0001583 missense U65928 CCDS6198.1 8q13.1 2013-03-14 2013-03-14 ENSG00000121022 ENSG00000121022 10987.0 10987.0 2240.0 protein-coding gene gene with protein product 604850.0 """COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5"", ""COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)""" 8837781, 9341143 Standard NM_006837 Approved JAB1, SGN5, MOV-34, CSN5 uc003xxe.3 Q92905 OTTHUMG00000164563 ENST00000517736.1:c.122C>G 8.__UNKNOWN__:g.67971510G>C ENSP00000429774:p.Thr41Ser O15386|Q6AW95|Q86WQ4|Q9BQ17 __UNKNOWN__ . . . . . . . . . . G 32 5.137002 0.94517 . . ENSG00000121022 ENST00000357849;ENST00000517736;ENST00000518747 T;T;T 0.54866 0.55;0.55;0.55 5.48 5.48 0.80851 . 0.000000 0.85682 D 0.000000 T 0.79305 0.4423 M 0.90705 3.14 0.80722 D 1 D;D;D 0.89917 1.0;0.999;1.0 D;D;D 0.85130 0.993;0.994;0.997 T 0.83080 -0.0138 10 0.87932 D 0 -3.3713 19.7153 0.96115 0.0:0.0:1.0:0.0 . 74;41;105 Q59GH5;E5RHH5;Q92905 .;.;CSN5_HUMAN S 105;41;41 ENSP00000350512:T105S;ENSP00000429774:T41S;ENSP00000428586:T41S ENSP00000350512:T105S T - 2 0 COPS5 68134064 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 9.703000 0.98714 2.731000 0.93534 0.655000 0.94253 ACC COPS5-010 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000380039.1 - ENST00000517736.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 CAPN9 10753 broad.mit.edu 37 1 230914848 230914848 + Silent SNP C C G TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr1:230914848C>G ENST00000271971.2 + 9.0 1196 c.1083C>G c.(1081-1083)ggC>ggG p.G361G CAPN9_ENST00000366666.2_Silent_p.G298G|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000354537.1_Silent_p.G335G|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA NM_006615.2 NP_006606.1 O14815 CAN9_HUMAN calpain 9 361.0 Domain III. digestion (GO:0007586)|proteolysis (GO:0006508) cytoplasm (GO:0005737) calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25.0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) GGGTTCGCGGCTCCACGGCTG 0.582 0 71.0 65.0 67.0 1 230914848.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF022799 CCDS1586.1, CCDS31053.1 1q42.11-q42.3 2013-01-10 2004-11-11 ENSG00000135773 ENSG00000135773 10753.0 10753.0 """EF-hand domain containing""" 1486.0 protein-coding gene gene with protein product """novel calpain large subunit-4""" 606401.0 """calpain 9 (nCL-4)""" 9524069, 10835488 Standard NM_006615 XM_005273010 Approved nCL-4, GC36 uc001htz.1 O14815 OTTHUMG00000037779 ENST00000271971.2:c.1083C>G 1.__UNKNOWN__:g.230914848C>G B1APS1|B1AQI0|Q9NS74 __UNKNOWN__ CCDS1586.1 CAPN9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000092179.1 + ENST00000271971.2 Silent SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 EPHX1 2052 broad.mit.edu 37 1 226026489 226026489 + Missense_Mutation SNP C C G TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr1:226026489C>G ENST00000366837.4 + 4.0 695 c.499C>G c.(499-501)Ccc>Gcc p.P167A EPHX1_ENST00000272167.5_Missense_Mutation_p.P167A NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 167.0 aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28.0 Breast(184;0.197) CCTGACTGACCCCAAGAACCA 0.572 0 124.0 112.0 116.0 1 226026489.0 2203.0 4300.0 6503.0 SO:0001583 missense J03518 CCDS1547.1 1q42.1 2009-07-10 ENSG00000143819 ENSG00000143819 2052.0 2052.0 3.3.2.9 3401.0 protein-coding gene gene with protein product 132810.0 EPHX 9925921 Standard NM_000120 NM_000120 Approved uc001hpk.3 P07099 OTTHUMG00000037743 ENST00000366837.4:c.499C>G 1.__UNKNOWN__:g.226026489C>G ENSP00000355802:p.Pro167Ala B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2 __UNKNOWN__ CCDS1547.1 . . . . . . . . . . C 22.9 4.344576 0.82022 . . ENSG00000143819 ENST00000272167;ENST00000366837 T;T 0.03689 3.84;3.84 5.84 5.84 0.93424 . 0.109027 0.64402 D 0.000006 T 0.10981 0.0268 M 0.72353 2.195 0.80722 D 1 P 0.48294 0.908 P 0.46885 0.53 T 0.01225 -1.1413 9 . . . -22.8053 20.1278 0.97990 0.0:1.0:0.0:0.0 . 167 P07099 HYEP_HUMAN A 167 ENSP00000272167:P167A;ENSP00000355802:P167A . P + 1 0 EPHX1 224093112 1.000000 0.71417 1.000000 0.80357 0.587000 0.36485 4.443000 0.59994 2.768000 0.95171 0.561000 0.74099 CCC EPHX1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000092064.1 + ENST00000366837.4 Missense_Mutation SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 FTO 79068 broad.mit.edu 37 16 53859931 53859931 + Silent SNP G G A TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr16:53859931G>A ENST00000471389.1 + 3.0 501 c.279G>A c.(277-279)ccG>ccA p.P93P FTO_ENST00000394647.3_Intron NM_001080432.2 NP_001073901.1 Q9C0B1 FTO_HUMAN fat mass and obesity associated 93.0 Fe2OG dioxygenase domain. adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659) nuclear speck (GO:0016607)|nucleus (GO:0005634) DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515) endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29.0 TGCTCACTCCGGTATCTCGCA 0.493 0 97.0 87.0 91.0 16 53859931.0 2198.0 4300.0 6498.0 SO:0001819 synonymous_variant BC003583 CCDS32448.1 16q12.2 2013-11-15 ENSG00000140718 ENSG00000140718 79068.0 79068.0 """Alkylation repair homologs""" 24678.0 protein-coding gene gene with protein product """AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase""" 610966.0 17434869, 17991826, 22002720 Standard NM_001080432 NM_001080432 Approved KIAA1752, MGC5149, ALKBH9 uc002ehr.3 Q9C0B1 OTTHUMG00000158780 ENST00000471389.1:c.279G>A 16.__UNKNOWN__:g.53859931G>A A2RUH1|B2RNS0|Q0P676|Q7Z785 __UNKNOWN__ CCDS32448.1 FTO-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352196.1 + ENST00000471389.1 Silent SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 AIM1 202 broad.mit.edu 37 6 106975253 106975253 + Missense_Mutation SNP G G T TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr6:106975253G>T ENST00000369066.3 + 5.0 3749 c.3262G>T c.(3262-3264)Ggt>Tgt p.G1088C NM_001624.2 NP_001615 Q9UMX9 S45A2_HUMAN absent in melanoma 1 0.0 developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601) integral component of membrane (GO:0016021) 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) 69.0 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) GGAACTCTCTGGTCTCTGGGG 0.428 0 210.0 201.0 204.0 6 106975253.0 2203.0 4300.0 6503.0 SO:0001583 missense U83115 CCDS34506.1 6q21 2014-01-29 ENSG00000112297 ENSG00000112297 202.0 202.0 356.0 protein-coding gene gene with protein product """suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1""" 601797.0 """suppression of tumorigenicity 4 (malignant melanoma)""" ST4 1680551, 12693952 Standard NM_001624 Approved CRYBG1 uc003prh.3 Q9Y4K1 OTTHUMG00000015302 ENST00000369066.3:c.3262G>T 6.__UNKNOWN__:g.106975253G>T ENSP00000358062:p.Gly1088Cys Q6P2P0|Q9BTM3 __UNKNOWN__ CCDS34506.1 . . . . . . . . . . G 16.30 3.083627 0.55861 . . ENSG00000112297 ENST00000369066 T 0.76186 -1.0 5.29 4.4 0.53042 Beta/gamma crystallin (4);Gamma-crystallin-related (1); 0.561123 0.20417 N 0.092743 T 0.50446 0.1616 L 0.39633 1.23 0.80722 D 1 B 0.24258 0.1 B 0.25759 0.063 T 0.57825 -0.7744 10 0.72032 D 0.01 . 8.2117 0.31488 0.2431:0.0:0.7569:0.0 . 1088 Q9Y4K1 AIM1_HUMAN C 1088 ENSP00000358062:G1088C ENSP00000358062:G1088C G + 1 0 AIM1 107081946 1.000000 0.71417 0.991000 0.47740 0.764000 0.43329 1.782000 0.38654 1.331000 0.45412 0.650000 0.86243 GGT AIM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041669.1 + ENST00000369066.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 COL15A1 1306 broad.mit.edu 37 9 101798452 101798452 + Splice_Site SNP G G A TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr9:101798452G>A ENST00000375001.3 + 20.0 2713 c.2290G>A c.(2290-2292)Ggt>Agt p.G764S NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 764.0 Triple-helical region 3 (COL3). angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165) collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) extracellular matrix structural constituent (GO:0005201) 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) 107.0 Acute lymphoblastic leukemia(62;0.0562) ATTTTTCCAGGGTCTCAAAGG 0.483 0 68.0 88.0 81.0 9 101798452.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant L25286 CCDS35081.1 9q21-q22 2013-01-16 ENSG00000204291 ENSG00000204291 1306.0 1306.0 """Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens""" 2192.0 protein-coding gene gene with protein product """collagen type XV proteoglycan""" 120325.0 1427836 Standard NM_001855 NM_001855 Approved uc004azb.2 P39059 OTTHUMG00000020351 ENST00000375001.3:c.2290-1G>A 9.__UNKNOWN__:g.101798452G>A Q5T6J4|Q9UDC5|Q9Y4W4 __UNKNOWN__ CCDS35081.1 . . . . . . . . . . G 17.53 3.413701 0.62511 . . ENSG00000204291 ENST00000375001 D 0.90732 -2.72 5.39 5.39 0.77823 . 0.000000 0.85682 D 0.000000 D 0.96433 0.8836 M 0.93420 3.415 0.45439 D 0.998417 D 0.89917 1.0 D 0.87578 0.998 D 0.97090 0.9790 9 . . . -10.9844 14.9982 0.71449 0.0:0.0:1.0:0.0 . 764 P39059 COFA1_HUMAN S 764 ENSP00000364140:G764S . G + 1 0 COL15A1 100838273 1.000000 0.71417 1.000000 0.80357 0.809000 0.45718 3.325000 0.52030 2.676000 0.91093 0.655000 0.94253 GGT COL15A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053386.3 Missense_Mutation + ENST00000375001.3 Splice_Site SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 C2CD3 26005 broad.mit.edu 37 11 73760452 73760452 + Missense_Mutation SNP G G C TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr11:73760452G>C ENST00000313663.7 - 27.0 5517 c.5291C>G c.(5290-5292)cCt>cGt p.P1764R C2CD3_ENST00000334126.7_Missense_Mutation_p.P1764R NM_015531.4 NP_056346.3 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1764.0 brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589) centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064) 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) 64.0 Breast(11;4.16e-06) ACTCTCCAAAGGGGAGACAGC 0.483 0 140.0 114.0 123.0 11 73760452.0 2200.0 4293.0 6493.0 SO:0001583 missense BC035599 CCDS31636.1, CCDS66167.1 11q13.4 2014-02-12 2007-10-17 ENSG00000168014 ENSG00000168014 26005.0 26005.0 24564.0 protein-coding gene gene with protein product 615944.0 Standard NM_015531 XM_005273897 Approved DKFZP586P0123 uc001ouu.2 Q4AC94 OTTHUMG00000168110 ENST00000313663.7:c.5291C>G 11.__UNKNOWN__:g.73760452G>C ENSP00000323339:p.Pro1764Arg C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2 __UNKNOWN__ CCDS31636.1 . . . . . . . . . . G 27.7 4.852098 0.91355 . . ENSG00000168014 ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160 T;T;T 0.73681 -0.77;-0.57;-0.57 5.67 5.67 0.87782 . 0.000000 0.85682 D 0.000000 D 0.87589 0.6215 M 0.81802 2.56 0.58432 D 0.999997 D 0.89917 1.0 D 0.91635 0.999 D 0.88512 0.3090 10 0.87932 D 0 -12.523 19.3726 0.94495 0.0:0.0:1.0:0.0 . 1764 Q4AC94-1 . R 1764;1764;1745;572 ENSP00000334379:P1764R;ENSP00000323339:P1764R;ENSP00000388750:P572R ENSP00000323339:P1764R P - 2 0 C2CD3 73438100 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.841000 0.99482 2.680000 0.91292 0.655000 0.94253 CCT C2CD3-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000398210.1 - ENST00000313663.7 Missense_Mutation SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 HRAS 3265 broad.mit.edu 37 11 533875 533875 + Missense_Mutation SNP G G T rs28933406 TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr11:533875G>T ENST00000451590.1 - 3.0 368 c.181C>A c.(181-183)Cag>Aag p.Q61K HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61K NM_001130442.1|NM_005343.2 NP_001123914.1|NP_005334.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61.0 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022) p.Q61K(61)|p.Q61R(1)|p.Q61E(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901.0 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) TACTCCTCCTGGCCGGCGGTA 0.597 6.0 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) yes Dom yes Costello syndrome 11 11p15.5 3265.0 v-Ha-ras Harvey rat sarcoma viral oncogene homolog """E, L, M""" 63 Substitution - Missense(63) thyroid(23)|skin(18)|urinary_tract(8)|upper_aerodigestive_tract(4)|soft_tissue(4)|testis(2)|lung(2)|cervix(1)|kidney(1) 117.0 102.0 107.0 11 533875.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Facio-Cutaneous-Skeletal syndrome AJ437024 CCDS7698.1, CCDS7699.1 11p15.5 2014-09-17 2013-07-08 ENSG00000174775 ENSG00000174775 3265.0 3265.0 5173.0 protein-coding gene gene with protein product 190020.0 """v-Ha-ras Harvey rat sarcoma viral oncogene homolog""" HRAS1 Standard NM_176795 NM_176795 Approved uc010qvx.2 P01112 OTTHUMG00000131919 ENST00000451590.1:c.181C>A 11.__UNKNOWN__:g.533875G>T ENSP00000407586:p.Gln61Lys B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2 __UNKNOWN__ CCDS7698.1 . . . . . . . . . . G 15.51 2.855718 0.51376 . . ENSG00000174775 ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189 D;D;D;D;D 0.83506 -1.73;-1.73;-1.73;-1.73;-1.73 3.64 3.64 0.41730 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.88644 0.6492 H 0.96604 3.85 0.80722 D 1 B;B 0.19073 0.033;0.012 B;B 0.19391 0.015;0.025 D 0.89618 0.3846 10 0.62326 D 0.03 . 14.8426 0.70237 0.0:0.0:1.0:0.0 rs28933406 61;61 P01112-2;P01112 .;RASH_HUMAN K 61 ENSP00000380722:Q61K;ENSP00000380723:Q61K;ENSP00000407586:Q61K;ENSP00000388246:Q61K;ENSP00000309845:Q61K ENSP00000309845:Q61K Q - 1 0 HRAS 523875 1.000000 0.71417 0.987000 0.45799 0.459000 0.32528 9.476000 0.97823 2.045000 0.60652 0.561000 0.74099 CAG HRAS-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259403.2 - ENST00000451590.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 ETV6 2120 broad.mit.edu 37 12 12022421 12022421 + Missense_Mutation SNP T T C TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr12:12022421T>C ENST00000396373.4 + 5.0 801 c.527T>C c.(526-528)aTt>aCt p.I176T NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 176.0 cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleolus (GO:0005730) protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700) 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) 45.0 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CCTCCCACCATTGAACTGTTG 0.582 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""" Dom yes 12 12p13 2120.0 ets variant gene 6 (TEL oncogene) """L, E, M""" 0 174.0 180.0 178.0 12 12022421.0 2203.0 4300.0 6503.0 SO:0001583 missense BC043399 CCDS8643.1 12p13 2014-09-17 2008-09-12 ENSG00000139083 ENSG00000139083 2120.0 2120.0 3495.0 protein-coding gene gene with protein product """TEL oncogene""" 600618.0 """ets variant gene 6 (TEL oncogene)""" 7731705 Standard NM_001987 NM_001987 Approved TEL uc001qzz.3 P41212 OTTHUMG00000168538 ENST00000396373.4:c.527T>C 12.__UNKNOWN__:g.12022421T>C ENSP00000379658:p.Ile176Thr A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0 __UNKNOWN__ CCDS8643.1 . . . . . . . . . . T 19.56 3.850418 0.71719 . . ENSG00000139083 ENST00000396373 T 0.05139 3.49 5.38 5.38 0.77491 . 0.000000 0.85682 D 0.000000 T 0.08403 0.0209 M 0.66939 2.045 0.58432 D 0.999999 P 0.35272 0.493 B 0.29942 0.109 T 0.21109 -1.0255 10 0.12103 T 0.63 . 15.074 0.72063 0.0:0.0:0.0:1.0 . 176 P41212 ETV6_HUMAN T 176 ENSP00000379658:I176T ENSP00000379658:I176T I + 2 0 ETV6 11913688 1.000000 0.71417 0.999000 0.59377 0.946000 0.59487 7.003000 0.76310 2.035000 0.60131 0.533000 0.62120 ATT ETV6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000400130.2 + ENST00000396373.4 Missense_Mutation SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 ALDH1L2 160428 broad.mit.edu 37 12 105433512 105433512 + Missense_Mutation SNP A A G TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr12:105433512A>G ENST00000258494.9 - 17.0 2164 c.2024T>C c.(2023-2025)aTt>aCt p.I675T C12orf45_ENST00000548583.1_Intron NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 675.0 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35.0 CTGTTTGCCAATAGGAGTGGA 0.393 0 164.0 151.0 155.0 12 105433512.0 2203.0 4300.0 6503.0 SO:0001583 missense AK095827 CCDS31891.1 12q23.3 2014-09-11 ENSG00000136010 ENSG00000136010 160428.0 160428.0 1.5.1.6 """Aldehyde dehydrogenases""" 26777.0 protein-coding gene gene with protein product """mitochondrial 10-formyltetrahydrofolate dehydrogenase""" 613584.0 20498374 Standard XM_090294 NM_001034173 Approved FLJ38508, mtFDH uc001tlc.3 Q3SY69 OTTHUMG00000169823 ENST00000258494.9:c.2024T>C 12.__UNKNOWN__:g.105433512A>G ENSP00000258494:p.Ile675Thr Q3SY68|Q68D62|Q6AI55|Q8N922 __UNKNOWN__ CCDS31891.1 . . . . . . . . . . A 14.75 2.629951 0.46944 . . ENSG00000136010 ENST00000258494 T 0.73152 -0.72 5.7 5.7 0.88788 Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1); 0.152930 0.64402 D 0.000016 T 0.31295 0.0792 N 0.00092 -2.175 0.80722 D 1 B 0.06786 0.001 B 0.14578 0.011 T 0.40924 -0.9537 10 0.44086 T 0.13 . 10.6272 0.45514 0.9198:0.0:0.0802:0.0 . 675 Q3SY69 AL1L2_HUMAN T 675 ENSP00000258494:I675T ENSP00000258494:I675T I - 2 0 ALDH1L2 103957642 1.000000 0.71417 0.724000 0.30704 0.997000 0.91878 7.479000 0.81095 2.167000 0.68274 0.528000 0.53228 ATT ALDH1L2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406098.1 - ENST00000258494.9 Missense_Mutation SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 RBL2 5934 broad.mit.edu 37 16 53476671 53476671 + Frame_Shift_Del DEL T T - TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr16:53476671delT ENST00000262133.6 + 3.0 610 c.473delT c.(472-474)gttfs p.V158fs NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 158.0 chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677) breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45.0 AACTTCACTGTTTCTGCTGTA 0.388 0 55.0 57.0 57.0 16 53476671.0 2198.0 4300.0 6498.0 SO:0001589 frameshift_variant X74594 CCDS10748.1 16q12.2 2014-03-11 2014-03-11 ENSG00000103479 ENSG00000103479 5934.0 5934.0 9894.0 protein-coding gene gene with protein product 180203.0 8361765, 8643454 Standard NM_005611 NM_005611 Approved Rb2, p130 uc002ehi.4 Q08999 OTTHUMG00000133198 ENST00000262133.6:c.473delT 16.__UNKNOWN__:g.53476671delT ENSP00000262133:p.Val158fs B7Z913|Q15073|Q16084|Q8NE70|Q92812 __UNKNOWN__ CCDS10748.1 RBL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256908.3 + ENST00000262133.6 Frame_Shift_Del DEL PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 AASS 10157 ucsc.edu 37 7 121753776 121753776 + Splice_Site SNP T T C TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr7:121753776T>C ENST00000393376.1 - 9.0 1139 c.e9-2 AASS_ENST00000417368.2_Splice_Site|AASS_ENST00000473553.1_Intron Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281) intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130) autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54.0 GCCACGAGTCTGAAAATAACA 0.373 0 90.0 80.0 84.0 7 121753776.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AF229180 CCDS5783.1 7q31.3 2010-12-14 ENSG00000008311 ENSG00000008311 10157.0 10157.0 17366.0 protein-coding gene gene with protein product 605113 10775527 Standard NM_005763 NM_005763 Approved LORSDH, LKRSDH uc003vkb.3 Q9UDR5 OTTHUMG00000157058 ENST00000393376.1:c.1044-2A>G 7.__UNKNOWN__:g.121753776T>C O95462 __UNKNOWN__ CCDS5783.1 . . . . . . . . . . T 20.5 4.007585 0.75046 . . ENSG00000008311 ENST00000393376;ENST00000417368 . . . 4.92 4.92 0.64577 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 14.9993 0.71459 0.0:0.0:0.0:1.0 . . . . . -1 . . . - . . AASS 121541012 1.000000 0.71417 1.000000 0.80357 0.863000 0.49368 7.785000 0.85724 2.190000 0.69967 0.533000 0.62120 . AASS-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347300.1 Intron - ENST00000393376.1 Splice_Site SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 LILRA4 23547 ucsc.edu 37 19 54845018 54845018 + Missense_Mutation SNP T T C TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr19:54845018T>C ENST00000291759.4 - 8.0 1381 c.1325A>G c.(1324-1326)tAc>tGc p.Y442C AC008984.2_ENST00000507363.1_RNA NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 442.0 immune system process (GO:0002376) integral component of membrane (GO:0016021) NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32.0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CTCCACTGTGTAATCCTGGAG 0.562 0 104.0 94.0 97.0 19 54845018.0 2203.0 4300.0 6503.0 SO:0001583 missense AF041261 CCDS12890.1 19q13.4 2013-01-11 ENSG00000239961 ENSG00000239961 23547.0 23547.0 """Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 15503.0 protein-coding gene gene with protein product 607517 10941842 Standard NM_012276 NM_012276 Approved ILT7, CD85g uc002qfj.3 P59901 OTTHUMG00000065355 ENST00000291759.4:c.1325A>G 19.__UNKNOWN__:g.54845018T>C ENSP00000291759:p.Tyr442Cys Q32MC4 __UNKNOWN__ CCDS12890.1 . . . . . . . . . . . 12.61 1.990687 0.35131 . . ENSG00000239961 ENST00000291759 T 0.00644 6.01 3.08 2.05 0.26809 . 4.632680 0.00961 N 0.003108 T 0.03520 0.0101 M 0.80616 2.505 0.09310 N 1 D 0.76494 0.999 D 0.70487 0.969 T 0.30446 -0.9978 10 0.66056 D 0.02 . 4.8432 0.13501 0.0:0.1453:0.0:0.8547 . 442 P59901 LIRA4_HUMAN C 442 ENSP00000291759:Y442C ENSP00000291759:Y442C Y - 2 0 LILRA4 59536830 0.515000 0.26210 0.046000 0.18839 0.038000 0.13279 0.744000 0.26245 0.581000 0.29539 0.460000 0.39030 TAC LILRA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000140229.2 - ENST00000291759.4 Missense_Mutation SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 LILRA4 23547 ucsc.edu 37 19 54845027 54845027 + Missense_Mutation SNP A A T TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr19:54845027A>T ENST00000291759.4 - 8.0 1372 c.1316T>A c.(1315-1317)cTc>cAc p.L439H AC008984.2_ENST00000507363.1_RNA NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 439.0 immune system process (GO:0002376) integral component of membrane (GO:0016021) NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32.0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) GTAATCCTGGAGGTGTGGGGC 0.562 0 106.0 95.0 99.0 19 54845027.0 2203.0 4300.0 6503.0 SO:0001583 missense AF041261 CCDS12890.1 19q13.4 2013-01-11 ENSG00000239961 ENSG00000239961 23547.0 23547.0 """Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 15503.0 protein-coding gene gene with protein product 607517 10941842 Standard NM_012276 NM_012276 Approved ILT7, CD85g uc002qfj.3 P59901 OTTHUMG00000065355 ENST00000291759.4:c.1316T>A 19.__UNKNOWN__:g.54845027A>T ENSP00000291759:p.Leu439His Q32MC4 __UNKNOWN__ CCDS12890.1 . . . . . . . . . . . 0.637 -0.815062 0.02776 . . ENSG00000239961 ENST00000291759 T 0.00514 6.88 2.96 -5.63 0.02474 . . . . . T 0.00328 0.0010 L 0.31578 0.945 0.09310 N 1 B 0.06786 0.001 B 0.06405 0.002 T 0.35400 -0.9790 9 0.45353 T 0.12 . 4.9614 0.14068 0.3711:0.0:0.4882:0.1407 . 439 P59901 LIRA4_HUMAN H 439 ENSP00000291759:L439H ENSP00000291759:L439H L - 2 0 LILRA4 59536839 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -4.301000 0.00257 -1.097000 0.03042 -2.427000 0.00216 CTC LILRA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000140229.2 - ENST00000291759.4 Missense_Mutation SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 PFN4 375189 ucsc.edu 37 2 24342501 24342501 + Missense_Mutation SNP T T A TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr2:24342501T>A ENST00000313213.4 - 4.0 678 c.307A>T c.(307-309)Act>Tct p.T103S PFN4_ENST00000465360.1_5'UTR NM_199346.1 NP_955378.1 Q8NHR9 PROF4_HUMAN profilin family, member 4 103.0 actin cytoskeleton organization (GO:0030036) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) lipid binding (GO:0008289) breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 6.0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCAGTGTAAGTTGCTACCAGA 0.453 0 136.0 124.0 128.0 2 24342501.0 2203.0 4300.0 6503.0 SO:0001583 missense BC029523 CCDS1709.1 2p24.1 2008-02-05 ENSG00000176732 ENSG00000176732 375189.0 375189.0 31103.0 protein-coding gene gene with protein product Standard NM_199346 NM_199346 Approved uc002rfa.1 Q8NHR9 OTTHUMG00000090816 ENST00000313213.4:c.307A>T 2.__UNKNOWN__:g.24342501T>A ENSP00000322170:p.Thr103Ser Q53TL9 __UNKNOWN__ CCDS1709.1 . . . . . . . . . . T 17.51 3.407978 0.62399 . . ENSG00000176732 ENST00000313213 D 0.85556 -2.0 5.42 4.25 0.50352 . 0.000000 0.64402 D 0.000004 D 0.84915 0.5578 M 0.64997 1.995 0.35570 D 0.80542 P 0.39535 0.677 P 0.45998 0.5 D 0.85907 0.1438 10 0.37606 T 0.19 -6.6912 9.674 0.40030 0.0:0.0:0.1753:0.8247 . 103 Q8NHR9 PROF4_HUMAN S 103 ENSP00000322170:T103S ENSP00000322170:T103S T - 1 0 PFN4 24196005 1.000000 0.71417 0.996000 0.52242 0.721000 0.41392 2.940000 0.49003 0.981000 0.38548 0.528000 0.53228 ACT PFN4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207617.2 - ENST00000313213.4 Missense_Mutation SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 THPO 7066 ucsc.edu 37 3 184091244 184091244 + Missense_Mutation SNP G G A TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr3:184091244G>A ENST00000204615.7 - 5.0 569 c.355C>T c.(355-357)Cgt>Tgt p.R119C THPO_ENST00000445696.2_Missense_Mutation_p.R119C|THPO_ENST00000421442.2_Missense_Mutation_p.R119C|EIF2B5_ENST00000444495.1_Intron NM_000460.2|NM_001177597.1|NM_001177598.1 NP_000451.1|NP_001171068.1|NP_001171069.1 P40225 TPO_HUMAN thrombopoietin 119.0 blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163) extracellular space (GO:0005615) growth factor activity (GO:0008083) NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16.0 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGGAGGAGACGGACCTGTCCA 0.592 0 78.0 70.0 73.0 3 184091244.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS3265.1, CCDS54693.1 3q27 2014-01-30 2008-07-31 ENSG00000090534 ENSG00000090534 7066.0 7066.0 """Endogenous ligands""" 11795.0 protein-coding gene gene with protein product """prepro-thrombopoietin"", ""megakaryocyte stimulating factor"", ""myeloproliferative leukemia virus oncogene ligand"", ""megakaryocyte growth and development factor"", ""MPL ligand"", ""megakaryocyte colony-stimulating factor"", ""c-mpl ligand"", ""thrombopoietin nirs variant 1""" 600044 MGDF 8202154 Standard NM_000460 XM_006713738 Approved TPO, MPLLG uc003fol.1 P40225 OTTHUMG00000156745 ENST00000204615.7:c.355C>T 3.__UNKNOWN__:g.184091244G>A ENSP00000204615:p.Arg119Cys A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792 __UNKNOWN__ CCDS3265.1 . . . . . . . . . . g 17.92 3.505920 0.64410 . . ENSG00000090534 ENST00000204615;ENST00000445696;ENST00000421442;ENST00000353488 T;T;T 0.47869 0.83;0.83;0.83 5.19 4.29 0.51040 Four-helical cytokine-like, core (1);Four-helical cytokine, core (1); 0.268702 0.26959 N 0.021633 T 0.52773 0.1755 N 0.24115 0.695 0.47547 D 0.999451 D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0 D;D;D;D;D 0.85130 0.927;0.957;0.997;0.984;0.991 T 0.56214 -0.8016 10 0.87932 D 0 -22.9236 10.8641 0.46844 0.0:0.0:0.8116:0.1884 . 119;119;119;119;119 P40225-3;Q5FBX8;F8W6L1;P40225-2;P40225 .;.;.;.;TPO_HUMAN C 119 ENSP00000204615:R119C;ENSP00000410763:R119C;ENSP00000411704:R119C ENSP00000204615:R119C R - 1 0 THPO 185573938 1.000000 0.71417 1.000000 0.80357 0.929000 0.56500 3.692000 0.54727 1.118000 0.41863 0.454000 0.30748 CGT THPO-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000345554.1 - ENST00000204615.7 Missense_Mutation SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 TNRC18 84629 ucsc.edu 37 7 5348948 5348948 + Missense_Mutation SNP G G A TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr7:5348948G>A ENST00000399537.4 - 28.0 8788 c.8440C>T c.(8440-8442)Cgc>Tgc p.R2814C TNRC18_ENST00000430969.1_Missense_Mutation_p.R2814C O15417 TNC18_HUMAN trinucleotide repeat containing 18 2814.0 chromatin binding (GO:0003682) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11.0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) TCCTTGCCGCGCACGATGGCC 0.652 0 42.0 45.0 44.0 7 5348948.0 2050.0 4200.0 6250.0 SO:0001583 missense U80753 CCDS47534.1 7p22.1 2012-04-17 ENSG00000182095 ENSG00000182095 84629.0 84629.0 """Trinucleotide (CAG) repeat containing""" 11962.0 protein-coding gene gene with protein product 9225980 Standard NM_001080495 Approved CAGL79, TNRC18A, KIAA1856 uc003soi.4 O15417 OTTHUMG00000151831 ENST00000399537.4:c.8440C>T 7.__UNKNOWN__:g.5348948G>A ENSP00000382452:p.Arg2814Cys A8MX41|Q96JH1|Q96K91 __UNKNOWN__ . . . . . . . . . . g 18.58 3.655186 0.67472 . . ENSG00000182095 ENST00000399537;ENST00000430969 T;T 0.20200 2.09;2.1 5.43 5.43 0.79202 . . . . . T 0.46776 0.1410 M 0.62723 1.935 0.80722 D 1 D 0.89917 1.0 D 0.76575 0.988 T 0.42649 -0.9439 9 0.87932 D 0 . 19.226 0.93817 0.0:0.0:1.0:0.0 . 2814 O15417 TNC18_HUMAN C 2814 ENSP00000382452:R2814C;ENSP00000395538:R2814C ENSP00000382452:R2814C R - 1 0 TNRC18 5315474 1.000000 0.71417 0.993000 0.49108 0.641000 0.38312 7.393000 0.79851 2.536000 0.85505 0.561000 0.74099 CGC TNRC18-001 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000324088.6 - ENST00000399537.4 Missense_Mutation SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 SMPD4 55627 hgsc.bcm.edu 37 2 130912789 130912789 + Missense_Mutation SNP A A C rs148027738 byFrequency TCGA-SP-A6QF-01A-12D-A35I-08 TCGA-SP-A6QF-10A-21D-A35G-08 A A . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 88156dd0-256c-499d-ba23-d9c2128f6726 caa96f11-e971-4cb7-9d98-7d55335260ed g.chr2:130912789A>C ENST00000409031.1 - 15.0 2598 c.1450T>G c.(1450-1452)Ttt>Gtt p.F484V SMPD4_ENST00000452225.2_Missense_Mutation_p.F225V|SMPD4_ENST00000339679.7_Missense_Mutation_p.F342V|SMPD4_ENST00000351288.6_Missense_Mutation_p.F455V|SMPD4_ENST00000453750.1_Missense_Mutation_p.F233V|SMPD4_ENST00000426662.2_Missense_Mutation_p.F120V|SMPD4_ENST00000443958.2_Missense_Mutation_p.F148V|SMPD4_ENST00000431183.2_Missense_Mutation_p.F382V NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 445.0 cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802) metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29.0 Colorectal(110;0.1) Phosphatidylserine(DB00144) AAGCCCACAAACAACTTGGTG 0.602 0 97.0 88.0 91.0 2 130912789.0 2203.0 4300.0 6503.0 SO:0001583 missense AF052134 CCDS2156.2, CCDS42751.1, CCDS54398.1 2q21.1 2009-11-06 ENSG00000136699 ENSG00000136699 55627.0 55627.0 32949.0 protein-coding gene gene with protein product 610457 16517606 Standard NM_017751 NM_001171083 Approved FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13 uc002tqr.2 Q9NXE4 OTTHUMG00000131624 ENST00000409031.1:c.1450T>G 2.__UNKNOWN__:g.130912789A>C ENSP00000386531:p.Phe484Val B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9 __UNKNOWN__ CCDS42751.1 .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. .|.|. 15.92|15.92|15.92 2.974600|2.974600|2.974600 0.53720|0.53720|0.53720 .|.|. .|.|. ENSG00000136699|ENSG00000136699|ENSG00000136699 ENST00000439886|ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662;ENST00000457039;ENST00000449159;ENST00000451542|ENST00000430682 .|.|. .|.|. .|.|. 4.24|4.24|4.24 4.24|4.24|4.24 0.50183|0.50183|0.50183 .|.|. .|0.000000|. .|0.85682|. .|D|. .|0.000000|. T|T|T 0.73636|0.73636|0.73636 0.3612|0.3612|0.3612 M|M|M 0.81497|0.81497|0.81497 2.545|2.545|2.545 0.58432|0.58432|0.58432 D|D|D 0.999999|0.999999|0.999999 .|D;D;P;P;D;P;D;D;D|. .|0.76494|. .|0.982;0.982;0.907;0.896;0.999;0.885;0.991;0.998;0.992|. .|P;P;P;P;D;P;D;D;D|. .|0.78314|. .|0.849;0.888;0.751;0.818;0.991;0.492;0.94;0.981;0.974|. T|T|T 0.75340|0.75340|0.75340 -0.3352|-0.3352|-0.3352 5|9|5 .|0.37606|. .|T|. .|0.19|. .|.|. 11.314|11.314|11.314 0.49381|0.49381|0.49381 1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0 .|.|. .|120;225;382;342;233;416;445;484;491|. .|B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4|. .|.;.;.;.;.;.;NSMA3_HUMAN;.;.|. W|V|G 358|455;484;382;233;148;342;225;120;81;20;226|165 .|.|. .|ENSP00000339721:F342V|. C|F|V -|-|- 3|1|2 2|0|0 SMPD4|SMPD4|SMPD4 130629259|130629259|130629259 1.000000|1.000000|1.000000 0.71417|0.71417|0.71417 0.969000|0.969000|0.969000 0.41365|0.41365|0.41365 0.096000|0.096000|0.096000 0.18686|0.18686|0.18686 6.723000|6.723000|6.723000 0.74742|0.74742|0.74742 1.538000|1.538000|1.538000 0.49270|0.49270|0.49270 0.254000|0.254000|0.254000 0.18369|0.18369|0.18369 TGT|TTT|GTT SMPD4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254516.3 - ENST00000409031.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QF-Normal-SM-5EMM1 PCDHGA4 0 broad.mit.edu 37 5 140737040 140737040 + Missense_Mutation SNP C C T TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr5:140737040C>T ENST00000571252.1 + 1.0 2273 c.2273C>T c.(2272-2274)tCc>tTc p.S758F PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 758.0 homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) endometrium(1)|kidney(1)|lung(3) 5.0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGAGGTCTCCCTCACCGCG 0.602 0 C ,,,PHE/SER,,PHE/SER 1,4405 0,1,2202 85.0 90.0 88.0 ,,,2273,,2273 3.7 0.3 5 88.0 0,8600 0,0,4300 no intron,intron,intron,missense,intron,missense PCDHGB1,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1 NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018922.2,NM_032053.1 ,,,155,,155 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 ,,,,, ,,,758/932,,758/821 140737040.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AF152511 CCDS58979.1, CCDS58979.2, CCDS75331.1 5q31 2010-01-26 56111.0 56111.0 """Cadherins / Protocadherins : Clustered""" 8702.0 other protocadherin 606291.0 10380929 Standard NM_018917 NM_018917 Approved PCDH-GAMMA-A4 Q9Y5G9 ENST00000571252.1:c.2273C>T 5.__UNKNOWN__:g.140737040C>T ENSP00000458570:p.Ser758Phe Q9Y5D3 __UNKNOWN__ CCDS58979.1 PCDHGA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000437959.1 + ENST00000571252.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QG-Normal-SM-5EMLT ZEB2 9839 broad.mit.edu 37 2 145147119 145147119 + Nonsense_Mutation SNP C C A TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr2:145147119C>A ENST00000558170.2 - 10.0 4728 c.3544G>T c.(3544-3546)Gaa>Taa p.E1182* ZEB2_ENST00000539609.3_Nonsense_Mutation_p.E1158*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.E1182*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.E1182* NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 1182.0 Glu-rich (acidic). cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107.0 BRCA - Breast invasive adenocarcinoma(221;0.112) GTCTCTTCTTCATCTCGTATC 0.478 Melanoma(33;1235 1264 5755 16332) 0 265.0 250.0 255.0 2 145147119.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AB011141 CCDS2186.1, CCDS54403.1 2q22.3 2013-01-08 2007-02-15 2007-02-15 ENSG00000169554 ENSG00000169554 9839.0 9839.0 """Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class""" 14881.0 protein-coding gene gene with protein product """SMAD interacting protein 1""" 605802.0 """zinc finger homeobox 1b""" ZFHX1B Standard NM_014795 NM_014795 Approved KIAA0569, SIP-1, SIP1 uc002tvu.3 O60315 OTTHUMG00000131834 ENST00000558170.2:c.3544G>T 2.__UNKNOWN__:g.145147119C>A ENSP00000454157:p.Glu1182* A0JP09|B7Z2P2|F5H814|Q9UED1 __UNKNOWN__ CCDS2186.1 . . . . . . . . . . C 43 10.404943 0.99399 . . ENSG00000169554 ENST00000539609;ENST00000303660;ENST00000409487 . . . 5.51 5.51 0.81932 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.87932 D 0 -11.7048 19.7945 0.96474 0.0:1.0:0.0:0.0 . . . . X 1158;1182;1182 . ENSP00000302501:E1182X E - 1 0 ZEB2 144863589 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 7.776000 0.85560 2.746000 0.94184 0.591000 0.81541 GAA ZEB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254778.5 - ENST00000558170.2 Nonsense_Mutation SNP PCPG-TCGA-SP-A6QG-Normal-SM-5EMLT STAC3 246329 broad.mit.edu 37 12 57643383 57643383 + Missense_Mutation SNP A A G TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr12:57643383A>G ENST00000332782.2 - 2.0 238 c.37T>C c.(37-39)Tcc>Ccc p.S13P STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Intron NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 13.0 intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741) identical protein binding (GO:0042802)|metal ion binding (GO:0046872) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18.0 GCTGGGAAGGAGGGCTTAGGG 0.537 0 68.0 65.0 66.0 12 57643383.0 2203.0 4300.0 6503.0 SO:0001583 missense AK057013 CCDS8936.1, CCDS66405.1, CCDS66406.1 12q13.3 2014-08-12 ENSG00000185482 ENSG00000185482 246329.0 246329.0 28423.0 protein-coding gene gene with protein product 615521.0 12477932 Standard NM_145064 NM_001286257 Approved MGC2793 uc009zpl.2 Q96MF2 OTTHUMG00000171271 ENST00000332782.2:c.37T>C 12.__UNKNOWN__:g.57643383A>G ENSP00000329200:p.Ser13Pro B4DUK9|Q96HU5 __UNKNOWN__ CCDS8936.1 . . . . . . . . . . A 13.85 2.360164 0.41801 . . ENSG00000185482 ENST00000332782;ENST00000553489 D;D 0.94793 -1.55;-3.52 5.07 1.48 0.22813 . 0.350840 0.21144 N 0.079440 T 0.82066 0.4956 N 0.08118 0 0.80722 D 1 B 0.02656 0.0 B 0.01281 0.0 T 0.71368 -0.4614 10 0.02654 T 1 -14.5002 6.5772 0.22573 0.6062:0.0:0.3938:0.0 . 13 Q96MF2 STAC3_HUMAN P 13 ENSP00000329200:S13P;ENSP00000452299:S13P ENSP00000329200:S13P S - 1 0 STAC3 55929650 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 1.825000 0.39081 0.386000 0.24997 0.528000 0.53228 TCC STAC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000412724.2 - ENST00000332782.2 Missense_Mutation SNP PCPG-TCGA-SP-A6QG-Normal-SM-5EMLT NEBL 10529 broad.mit.edu 37 10 21158716 21158716 + Nonsense_Mutation SNP G G A TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr10:21158716G>A ENST00000417816.2 - 5.0 711 NEBL_ENST00000377122.4_Nonsense_Mutation_p.R179*|NEBL_ENST00000377119.1_Nonsense_Mutation_p.R179*|NEBL_ENST00000377159.4_Intron NM_001173484.1|NM_213569.2 NP_001166955.1|NP_998734.1 O76041 NEBL_HUMAN nebulette cardiac muscle thin filament assembly (GO:0071691) extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018) actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523) p.R179*(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) 70.0 ATGTCTGGTCGGTCAAGTTCT 0.368 1 Substitution - Nonsense(1) endometrium(1) G ,stop/ARG, 1,4405 2.1+/-5.4 0,1,2202 227.0 187.0 200.0 ,535, 3.6 1.0 10 200.0 0,8600 0,0,4300 no intron,stop-gained,intron NEBL NM_001173484.1,NM_006393.2,NM_213569.2 ,, 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 ,, ,179/1015, 21158716.0 1,13005 2203.0 4300.0 6503.0 SO:0001627 intron_variant Y16241 CCDS7133.1, CCDS7134.1 10p12 2014-09-17 ENSG00000078114 ENSG00000078114 10529.0 10529.0 16932.0 protein-coding gene gene with protein product 605491.0 9733644, 10470015 Standard NM_006393 NM_213569 Approved uc001iqi.3 O76041 OTTHUMG00000017788 ENST00000417816.2:c.358-56847C>T 10.__UNKNOWN__:g.21158716G>A B0YJ45|Q2TBD0|Q70I54|Q9UIC4 __UNKNOWN__ CCDS7133.1 . . . . . . . . . . G 37 6.026689 0.97216 2.27E-4 0.0 ENSG00000078114 ENST00000377122;ENST00000377119 . . . 5.97 3.61 0.41365 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 . 12.9103 0.58177 0.0:0.0:0.2679:0.7321 . . . . X 179 . ENSP00000366323:R179X R - 1 2 NEBL 21198722 1.000000 0.71417 0.969000 0.41365 0.250000 0.25880 3.246000 0.51414 0.491000 0.27793 -0.262000 0.10625 CGA NEBL-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047112.1 - ENST00000417816.2 Intron SNP PCPG-TCGA-SP-A6QG-Normal-SM-5EMLT ALDH1A1 216 broad.mit.edu 37 9 75531973 75531973 + Missense_Mutation SNP C C G TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr9:75531973C>G ENST00000297785.3 - 9.0 952 c.898G>C c.(898-900)Ggc>Cgc p.G300R ALDH1A1_ENST00000376939.1_Splice_Site_p.G226G NM_000689.4 NP_000680.2 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1 family, member A1 300.0 cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17.0 Tretinoin(DB00755)|Vitamin A(DB00162) CAACACTGGCCCTGGTGGTAG 0.378 0 104.0 108.0 107.0 9 75531973.0 2203.0 4300.0 6503.0 SO:0001583 missense K03000 CCDS6644.1 9q21.13 2010-08-05 ENSG00000165092 ENSG00000165092 216.0 216.0 1.2.1.36, 1.2.1.3 """Aldehyde dehydrogenases""" 402.0 protein-coding gene gene with protein product """retinaldehyde dehydrogenase 1""" 100640.0 PUMB1, ALDH1 1709013 Standard NM_000689 Approved RALDH1 uc004ajd.3 P00352 OTTHUMG00000020019 ENST00000297785.3:c.898G>C 9.__UNKNOWN__:g.75531973C>G ENSP00000297785:p.Gly300Arg O00768|Q5SYR1 __UNKNOWN__ CCDS6644.1 . . . . . . . . . . C 28.6 4.935049 0.92458 . . ENSG00000165092 ENST00000297785;ENST00000428593 T 0.66280 -0.2 5.95 5.95 0.96441 Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1); 0.000000 0.85682 D 0.000000 D 0.90133 0.6917 H 0.99777 4.77 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.94115 0.7374 10 0.87932 D 0 . 20.3775 0.98923 0.0:1.0:0.0:0.0 . 221;300 B4DDF8;P00352 .;AL1A1_HUMAN R 300;314 ENSP00000297785:G300R ENSP00000297785:G300R G - 1 0 ALDH1A1 74721793 1.000000 0.71417 1.000000 0.80357 0.713000 0.41058 7.261000 0.78400 2.825000 0.97269 0.650000 0.86243 GGC ALDH1A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052679.1 - ENST00000297785.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QG-Normal-SM-5EMLT ARHGAP10 79658 broad.mit.edu 37 4 148653479 148653479 + Silent SNP C C T TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr4:148653479C>T ENST00000336498.3 + 1.0 266 c.27C>T c.(25-27)agC>agT p.S9S NM_024605.3 NP_078881.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 10 0.0 establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165) cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) GTPase activator activity (GO:0005096) autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33.0 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) TGGAGTTCAGCGACTGCTACC 0.672 0 30.0 30.0 30.0 4 148653479.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC047914 CCDS34075.1 4q31.23 2013-09-20 ENSG00000071205 ENSG00000071205 79658.0 79658.0 """Rho GTPase activating proteins""" 26099.0 protein-coding gene gene with protein product 609746.0 8288572 Standard NM_024605 NM_024605 Approved FLJ20896, FLJ41791, GRAF2 uc003ilf.3 A1A4S6 OTTHUMG00000161460 ENST00000336498.3:c.27C>T 4.__UNKNOWN__:g.148653479C>T Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3 __UNKNOWN__ CCDS34075.1 ARHGAP10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000365005.1 + ENST00000336498.3 Silent SNP PCPG-TCGA-SP-A6QG-Normal-SM-5EMLT MICU3 286097 broad.mit.edu 37 8 16962937 16962937 + Silent SNP C C G TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr8:16962937C>G ENST00000318063.5 + 11.0 1143 c.1101C>G c.(1099-1101)ctC>ctG p.L367L MICU3_ENST00000519866.1_3'UTR NM_181723.2 NP_859074.1 Q86XE3 MICU3_HUMAN mitochondrial calcium uptake family, member 3 367.0 integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) calcium ion binding (GO:0005509) TGGATAATCTCCAAACAGAAG 0.313 0 40.0 39.0 40.0 8 16962937.0 2193.0 4295.0 6488.0 SO:0001819 synonymous_variant BC032868 CCDS5999.1 8p22 2013-03-26 2013-03-26 2013-03-14 ENSG00000155970 ENSG00000155970 286097.0 286097.0 """EF-hand domain containing""" 27820.0 protein-coding gene gene with protein product 610633.0 """EF hand domain family A2"", ""EF-hand domain family, member A2""" EFHA2 23409044 Standard NM_181723 NM_181723 Approved DKFZp313A0139 uc003wxd.2 Q86XE3 OTTHUMG00000096965 ENST00000318063.5:c.1101C>G 8.__UNKNOWN__:g.16962937C>G Q8IYZ3 __UNKNOWN__ CCDS5999.1 . . . . . . . . . . C 5.850 0.340982 0.11069 . . ENSG00000155970 ENST00000519044 . . . 4.9 -1.78 0.07957 . . . . . T 0.38719 0.1051 . . . 0.80722 D 1 . . . . . . T 0.25363 -1.0134 4 . . . -6.8235 1.0634 0.01605 0.2984:0.2351:0.2808:0.1857 . . . . C 212 . . S + 2 0 EFHA2 17007308 0.877000 0.30153 0.978000 0.43139 0.988000 0.76386 -0.083000 0.11286 -0.480000 0.06803 -0.291000 0.09656 TCC MICU3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214031.1 + ENST00000318063.5 Silent SNP PCPG-TCGA-SP-A6QG-Normal-SM-5EMLT ADCY9 115 broad.mit.edu 37 16 4015941 4015941 + Silent SNP C C T rs146633008 TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr16:4015941C>T ENST00000294016.3 - 11.0 4435 c.3897G>A c.(3895-3897)acG>acA p.T1299T NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 1299.0 activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872) 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) 47.0 CCTTGGCCTGCGTGCTGCTGT 0.567 C 1.0 0.0005 2184.0 0.0017 0.9997 , , 0.0003 0.0005 0.804 LOWCOV 0.0019 SNP 0 C 1,4393 2.1+/-5.4 0,1,2196 95.0 88.0 90.0 3897 -11.3 0.0 16 dbSNP_134 90.0 0,8600 0,0,4300 no coding-synonymous ADCY9 NM_001116.3 0,1,6496 TT,TC,CC 0.0,0.0228,0.0077 1299/1354 4015941.0 1,12993 2197.0 4300.0 6497.0 SO:0001819 synonymous_variant AF036927 CCDS32382.1 16p13.3 2013-02-04 ENSG00000162104 115.0 115.0 4.6.1.1 """Adenylate cyclases""" 240.0 protein-coding gene gene with protein product 603302.0 9628827 Standard NM_001116 Approved AC9 uc002cvx.3 O60503 ENST00000294016.3:c.3897G>A 16.__UNKNOWN__:g.4015941C>T A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2 __UNKNOWN__ CCDS32382.1 ADCY9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000438076.1 - ENST00000294016.3 Silent SNP PCPG-TCGA-SP-A6QG-Normal-SM-5EMLT VPS13B 157680 broad.mit.edu 37 8 100479757 100479757 + Silent SNP C C T TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr8:100479757C>T ENST00000358544.2 + 24.0 3672 c.3561C>T c.(3559-3561)gtC>gtT p.V1187V VPS13B_ENST00000395996.1_Silent_p.V1187V|VPS13B_ENST00000357162.2_Silent_p.V1187V NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1187.0 protein transport (GO:0015031) 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) 193.0 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTCTAGCTGTCACGTCTCAAA 0.438 Colon(161;2205 2542 7338 31318) 0 234.0 204.0 214.0 8 100479757.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AJ608772 CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1 8q22-q23 2014-09-17 2006-12-19 2005-04-08 ENSG00000132549 ENSG00000132549 157680.0 157680.0 2183.0 protein-coding gene gene with protein product 607817.0 """Cohen syndrome 1""" CHS1, COH1 7920642, 15498460 Standard NM_184042 NM_181661 Approved uc003yiv.4 Q7Z7G8 OTTHUMG00000140383 ENST00000358544.2:c.3561C>T 8.__UNKNOWN__:g.100479757C>T C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7 __UNKNOWN__ CCDS6280.1 VPS13B-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000277138.1 + ENST00000358544.2 Silent SNP PCPG-TCGA-SP-A6QG-Normal-SM-5EMLT ABCF2 10061 broad.mit.edu 37 7 150915186 150915186 + Missense_Mutation SNP A A G TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr7:150915186A>G ENST00000287844.2 - 11.0 1428 c.1319T>C c.(1318-1320)cTg>cCg p.L440P ABCF2_ENST00000222388.2_Missense_Mutation_p.L440P NM_007189.1 NP_009120.1 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F (GCN20), member 2 440.0 ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}. transport (GO:0006810) ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2) 24.0 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TAGCAGCTTCAGAAGAGTTGA 0.517 0 136.0 114.0 121.0 7 150915186.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ005016 CCDS5922.1, CCDS5923.1 7q36.1 2012-03-14 ENSG00000033050 ENSG00000033050 10061.0 10061.0 """ATP binding cassette transporters / subfamily F""" 71.0 protein-coding gene gene with protein product 612510.0 8894702 Standard NM_005692 NM_007189 Approved EST133090, ABC28, M-ABC1, HUSSY-18 uc003wjo.1 Q9UG63 OTTHUMG00000154570 ENST00000287844.2:c.1319T>C 7.__UNKNOWN__:g.150915186A>G ENSP00000287844:p.Leu440Pro O60864|Q75MJ0|Q75MJ1|Q96TE8 __UNKNOWN__ CCDS5923.1 . . . . . . . . . . A 24.4 4.527414 0.85706 . . ENSG00000033050 ENST00000222388;ENST00000287844 D;D 0.95788 -3.81;-3.81 5.49 5.49 0.81192 ATPase, AAA+ type, core (1);ABC transporter-like (2); 0.000000 0.85682 D 0.000000 D 0.98620 0.9538 H 0.98238 4.18 0.80722 D 1 D;D 0.76494 0.998;0.999 D;D 0.79108 0.987;0.992 D 0.99667 1.0995 10 0.87932 D 0 -2.4219 14.7613 0.69607 1.0:0.0:0.0:0.0 . 440;440 Q9UG63;Q75MJ1 ABCF2_HUMAN;. P 440 ENSP00000222388:L440P;ENSP00000287844:L440P ENSP00000222388:L440P L - 2 0 ABCF2 150546119 1.000000 0.71417 0.999000 0.59377 0.997000 0.91878 8.543000 0.90651 2.078000 0.62432 0.482000 0.46254 CTG ABCF2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000336086.1 - ENST00000287844.2 Missense_Mutation SNP PCPG-TCGA-SP-A6QG-Normal-SM-5EMLT GTPBP2 54676 broad.mit.edu 37 6 43589788 43589788 + Silent SNP G G A TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr6:43589788G>A ENST00000307126.5 - 11.0 1583 c.1584C>T c.(1582-1584)caC>caT p.H528H GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Silent_p.H440H NM_019096.3 NP_061969.3 GTP binding protein 2 breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1) 18.0 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) CGTTGCCCACGTGTACTGTCA 0.552 GBM(116;405 1620 28302 32150 44768) 0 210.0 171.0 184.0 6 43589788.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB024574 CCDS4903.1, CCDS69124.1 6p21 2008-07-28 ENSG00000172432 ENSG00000172432 54676.0 54676.0 4670.0 protein-coding gene gene with protein product 607434.0 10833435, 11054535 Standard NM_019096 Approved uc003ovs.3 Q9BX10 OTTHUMG00000014744 ENST00000307126.5:c.1584C>T 6.__UNKNOWN__:g.43589788G>A __UNKNOWN__ CCDS4903.1 . . . . . . . . . . g 5.020 0.189428 0.09547 . . ENSG00000172432 ENST00000419497;ENST00000432918 . . . 5.79 -6.95 0.01628 . . . . . T 0.51873 0.1700 . . . 0.80722 D 1 . . . . . . T 0.66002 -0.6031 4 . . . -15.7491 18.0049 0.89207 0.6017:0.0:0.3983:0.0 . . . . C 97 . . R - 1 0 GTPBP2 43697766 0.663000 0.27448 0.274000 0.24659 0.923000 0.55619 -0.185000 0.09684 -2.203000 0.00744 -1.723000 0.00705 CGT GTPBP2-011 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040679.1 - ENST00000307126.5 Silent SNP PCPG-TCGA-SP-A6QG-Normal-SM-5EMLT TRMT2B 79979 broad.mit.edu 37 X 100297190 100297190 + Missense_Mutation SNP G G A TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chrX:100297190G>A ENST00000372936.3 - 3.0 861 c.89C>T c.(88-90)cCc>cTc p.P30L TRMT2B_ENST00000545398.1_Missense_Mutation_p.P30L|TRMT2B_ENST00000478422.1_Intron|TRMT2B_ENST00000372935.1_Missense_Mutation_p.P30L|TRMT2B_ENST00000372939.1_Missense_Mutation_p.P30L|TRMT2B_ENST00000338687.7_Missense_Mutation_p.P30L|TRMT2B_ENST00000372931.5_Missense_Mutation_p.P30L NM_024917.5 NP_079193.2 Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 30.0 mitochondrion (GO:0005739) S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697) breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24.0 GGCATACCAGGGAAGCAGTCC 0.502 0 93.0 81.0 85.0 X 100297190.0 2203.0 4300.0 6503.0 SO:0001583 missense BC020116 CCDS14477.1, CCDS55464.1 Xq22.1 2012-06-12 2012-06-12 2008-09-17 ENSG00000188917 ENSG00000188917 79979.0 79979.0 25748.0 protein-coding gene gene with protein product """chromosome X open reading frame 34""" CXorf34 14702039 Standard NM_024917 NM_024917 Approved FLJ12687 uc004egq.3 Q96GJ1 OTTHUMG00000022017 ENST00000372936.3:c.89C>T X.__UNKNOWN__:g.100297190G>A ENSP00000362027:p.Pro30Leu A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2 __UNKNOWN__ CCDS14477.1 . . . . . . . . . . G 6.872 0.530349 0.13127 . . ENSG00000188917 ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931 T;T;T;T;T;T 0.40476 1.03;1.03;1.03;1.03;1.03;1.03 4.71 0.569 0.17340 . 1.061280 0.07366 N 0.884909 T 0.37156 0.0993 M 0.66939 2.045 0.09310 N 1 B;B;B 0.11235 0.004;0.002;0.002 B;B;B 0.14578 0.011;0.005;0.005 T 0.45659 -0.9246 10 0.72032 D 0.01 -25.6958 0.832 0.01132 0.2213:0.1827:0.4059:0.1902 . 30;30;30 Q96GJ1-3;F2Z384;Q96GJ1 .;.;TRM2_HUMAN L 30 ENSP00000340970:P30L;ENSP00000438134:P30L;ENSP00000362030:P30L;ENSP00000362026:P30L;ENSP00000362027:P30L;ENSP00000362022:P30L ENSP00000340970:P30L P - 2 0 TRMT2B 100183846 0.207000 0.23482 0.007000 0.13788 0.059000 0.15707 0.400000 0.20932 0.130000 0.18549 0.513000 0.50165 CCC TRMT2B-003 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000057512.1 - ENST00000372936.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QG-Normal-SM-5EMLT HOXB3 3213 broad.mit.edu 37 17 46629486 46629486 + Silent SNP G G A TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr17:46629486G>A ENST00000489475.1 - 4.0 833 c.132C>T c.(130-132)tgC>tgT p.C44C HOXB3_ENST00000472863.1_Silent_p.C44C|HOXB3_ENST00000311626.4_Silent_p.C117C|HOXB3_ENST00000476342.1_Silent_p.C117C|HOXB3_ENST00000498678.1_Silent_p.C117C|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000470495.1_Silent_p.C117C P14651 HXB3_HUMAN homeobox B3 117.0 angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30.0 TGCCGGGACCGCACTTTGGGG 0.617 0 164.0 184.0 177.0 17 46629486.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS11528.1 17q21.32 2011-06-20 2005-12-22 ENSG00000120093 ENSG00000120093 3213.0 3213.0 """Homeoboxes / ANTP class : HOXL subclass""" 5114.0 protein-coding gene gene with protein product 142966.0 """homeo box B3""" HOX2, HOX2G 1973146, 1358459 Standard XM_006721854 Approved uc002ino.3 P14651 OTTHUMG00000159922 ENST00000489475.1:c.132C>T 17.__UNKNOWN__:g.46629486G>A A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484 __UNKNOWN__ HOXB3-005 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000358265.1 - ENST00000489475.1 Silent SNP PCPG-TCGA-SP-A6QG-Normal-SM-5EMLT RP11-324H6.5 0 bcgsc.ca 37 10 51816615 51816615 + RNA SNP C C G TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr10:51816615C>G ENST00000456967.1 - 0.0 1570 NR_038275.1 ACGGCTTTTTCTTTGAACAGA 0.418 0 ENST00000456967.1: 10.__UNKNOWN__:g.51816615C>G __UNKNOWN__ RP11-324H6.5-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000048059.1 - ENST00000456967.1 RNA SNP PCPG-TCGA-SP-A6QG-Normal-SM-5EMLT KMT2B 0 ucsc.edu 37 19 36222888 36222888 + Silent SNP G G A TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr19:36222888G>A ENST00000222270.7 + 27.0 5517 c.5517G>A c.(5515-5517)caG>caA p.Q1839Q KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.Q1839Q NM_014727.1 NP_055542.1 Q9UMN6 KMT2B_HUMAN lysine (K)-specific methyltransferase 2B 1839.0 chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) CGCCCATTCAGAACCTGGACC 0.617 0 34.0 39.0 37.0 19 36222888.0 1980.0 4149.0 6129.0 SO:0001819 synonymous_variant AJ007041 CCDS46055.1 19q13.1 2014-02-18 ENSG00000105663 ENSG00000272333 9757.0 9757.0 """Chromatin-modifying enzymes / K-methyltransferases""" 15840.0 protein-coding gene gene with protein product """myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4""" 606834 10409430, 10637508 Standard NM_014727 XM_006723513 Approved KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4 Q9UMN6 OTTHUMG00000048119 ENST00000222270.7:c.5517G>A 19.__UNKNOWN__:g.36222888G>A O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669 __UNKNOWN__ CCDS46055.1 KMT2B-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding + ENST00000222270.7 Silent SNP PCPG-TCGA-SP-A6QG-Normal-SM-5EMLT PLCB1 23236 ucsc.edu 37 20 8770823 8770823 + Missense_Mutation SNP T T C TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr20:8770823T>C ENST00000338037.6 + 31.0 3365 c.3338T>C c.(3337-3339)cTa>cCa p.L1113P PLCB1_ENST00000378641.3_Splice_Site_p.L1113P|PLCB1_ENST00000378637.2_Splice_Site_p.L1113P NM_015192.2 NP_056007.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 1113.0 activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871) NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95.0 TTCTTATAGCTAGAAGAAGCG 0.363 0 47.0 47.0 47.0 20 8770823.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AB011153 CCDS13102.1, CCDS13103.1 20p12 2008-03-18 ENSG00000182621 ENSG00000182621 23236.0 23236.0 3.1.4.11 15917.0 protein-coding gene gene with protein product 607120 10760467, 11118617 Standard NM_015192 Approved KIAA0581, PLC-I, PLC154 uc002wnb.4 Q9NQ66 OTTHUMG00000031849 ENST00000338037.6:c.3337-1T>C 20.__UNKNOWN__:g.8770823T>C D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26 __UNKNOWN__ CCDS13102.1 . . . . . . . . . . T 22.5 4.298472 0.81025 . . ENSG00000182621 ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719 T;T;T 0.63096 -0.02;-0.02;-0.02 5.98 5.98 0.97165 PLC-beta, C-terminal (1); 0.077277 0.53938 D 0.000059 T 0.78117 0.4233 M 0.65498 2.005 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.80764 0.993;0.994 T 0.80176 -0.1491 10 0.87932 D 0 . 16.4781 0.84144 0.0:0.0:0.0:1.0 . 1113;1113 Q9NQ66;Q9NQ66-2 PLCB1_HUMAN;. P 1113;1113;1113;1033;1033 ENSP00000367908:L1113P;ENSP00000338185:L1113P;ENSP00000367904:L1113P ENSP00000338185:L1113P L + 2 0 PLCB1 8718823 1.000000 0.71417 1.000000 0.80357 0.849000 0.48306 7.038000 0.76537 2.288000 0.76882 0.528000 0.53228 CTA PLCB1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077938.3 Missense_Mutation + ENST00000338037.6 Splice_Site SNP PCPG-TCGA-SP-A6QG-Normal-SM-5EMLT P2RX4 5025 broad.mit.edu 37 12 121670284 121670284 + Missense_Mutation SNP C C T rs148705105 TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr12:121670284C>T ENST00000337233.4 + 9.0 1260 c.952C>T c.(952-954)Cgc>Tgc p.R318C P2RX4_ENST00000359949.7_Missense_Mutation_p.R334C|P2RX4_ENST00000543171.1_Missense_Mutation_p.R217C|P2RX4_ENST00000541532.1_3'UTR NM_001261397.1|NM_001261398.1|NM_002560.2 NP_001248326.1|NP_001248327.1|NP_002551.2 Q99571 P2RX4_HUMAN purinergic receptor P2X, ligand-gated ion channel, 4 318.0 apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311) apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195) ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270) breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1) 17.0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTATGGCATCCGCTTCGACAT 0.607 0 C CYS/ARG 2,4404 4.2+/-10.8 0,2,2201 103.0 86.0 92.0 952 5.0 1.0 12 dbSNP_134 92.0 0,8600 1.2+/-3.3 0,0,4300 no missense P2RX4 NM_002560.2 180 0,2,6501 TT,TC,CC 0.0,0.0454,0.0154 probably-damaging 318/389 121670284.0 2,13004 2203.0 4300.0 6503.0 SO:0001583 missense Y07684 CCDS9214.1, CCDS58282.1 12q24.32 2012-01-17 ENSG00000135124 ENSG00000135124 5025.0 5025.0 """Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic""" 8535.0 protein-coding gene gene with protein product 600846.0 9016352 Standard NM_175567 NM_002560 Approved P2X4 uc031qjt.1 Q99571 OTTHUMG00000169155 ENST00000337233.4:c.952C>T 12.__UNKNOWN__:g.121670284C>T ENSP00000336607:p.Arg318Cys E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9 __UNKNOWN__ CCDS9214.1 . . . . . . . . . . C 21.4 4.138560 0.77775 4.54E-4 0.0 ENSG00000135124 ENST00000337233;ENST00000359949;ENST00000543171;ENST00000542067 T;T;T;T 0.08634 3.07;3.07;3.07;3.07 5.02 5.02 0.67125 . 0.000000 0.85682 D 0.000000 T 0.36220 0.0959 M 0.91561 3.22 0.80722 D 1 B;D;D 0.65815 0.228;0.995;0.99 B;D;D 0.63597 0.171;0.916;0.916 T 0.48163 -0.9059 10 0.72032 D 0.01 -18.9642 17.3156 0.87222 0.0:1.0:0.0:0.0 . 291;334;318 F6RU17;E7EPF7;Q99571 .;.;P2RX4_HUMAN C 318;334;217;291 ENSP00000336607:R318C;ENSP00000353032:R334C;ENSP00000438131:R217C;ENSP00000438329:R291C ENSP00000336607:R318C R + 1 0 P2RX4 120154667 1.000000 0.71417 1.000000 0.80357 0.941000 0.58515 2.894000 0.48640 2.329000 0.79093 0.462000 0.41574 CGC P2RX4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402545.1 + ENST00000337233.4 Missense_Mutation SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF ZBBX 79740 broad.mit.edu 37 3 167031891 167031891 + Missense_Mutation SNP C C A TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr3:167031891C>A ENST00000455345.2 - 15.0 1571 c.1288G>T c.(1288-1290)Gat>Tat p.D430Y ZBBX_ENST00000392764.1_Missense_Mutation_p.D401Y|ZBBX_ENST00000392767.2_Missense_Mutation_p.D430Y|ZBBX_ENST00000307529.5_Missense_Mutation_p.D430Y|ZBBX_ENST00000392766.2_Missense_Mutation_p.D430Y A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 430.0 intracellular (GO:0005622) zinc ion binding (GO:0008270) 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) 70.0 TTCTGACAATCATGAAAAGCA 0.299 0 92.0 83.0 86.0 3 167031891.0 1822.0 4079.0 5901.0 SO:0001583 missense AK026702 CCDS3199.2, CCDS56295.1, CCDS56296.1 3q26.1 2010-03-23 ENSG00000169064 ENSG00000169064 79740.0 79740.0 26245.0 protein-coding gene gene with protein product 12477932 Standard NM_024687 NM_024687 Approved FLJ23049 uc011bpc.2 A8MT70 OTTHUMG00000133560 ENST00000455345.2:c.1288G>T 3.__UNKNOWN__:g.167031891C>A ENSP00000390232:p.Asp430Tyr A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8 __UNKNOWN__ CCDS56296.1 . . . . . . . . . . C 13.06 2.122869 0.37436 . . ENSG00000169064 ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764 T;T;T;T;T 0.12569 2.84;2.84;2.83;2.83;2.67 5.29 5.29 0.74685 . 0.295572 0.29280 N 0.012619 T 0.31544 0.0800 L 0.52573 1.65 0.37284 D 0.907954 D;D 0.89917 1.0;1.0 D;D 0.74023 0.982;0.96 T 0.08126 -1.0737 10 0.87932 D 0 -13.4703 14.7753 0.69726 0.0:1.0:0.0:0.0 . 430;430 A8MT70-2;A8MT70 .;ZBBX_HUMAN Y 430;430;430;430;401 ENSP00000376519:D430Y;ENSP00000376520:D430Y;ENSP00000390232:D430Y;ENSP00000305065:D430Y;ENSP00000376517:D401Y ENSP00000305065:D430Y D - 1 0 ZBBX 168514585 0.100000 0.21855 0.972000 0.41901 0.035000 0.12851 0.399000 0.20916 2.620000 0.88729 0.655000 0.94253 GAT ZBBX-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000257658.2 - ENST00000455345.2 Missense_Mutation SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF GPRASP1 9737 broad.mit.edu 37 X 101911811 101911811 + Silent SNP G G C TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chrX:101911811G>C ENST00000361600.5 + 5.0 3771 c.2970G>C c.(2968-2970)ggG>ggC p.G990G GPRASP1_ENST00000444152.1_Silent_p.G990G|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Silent_p.G990G|GPRASP1_ENST00000415986.1_Silent_p.G990G NM_014710.4 NP_055525.3 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 990.0 OPRD1-binding. endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172) cytoplasm (GO:0005737) 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) 60.0 GCAACTGTGGGTCCAGGACAT 0.512 0 154.0 132.0 140.0 X 101911811.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB007903 CCDS35352.1 Xq22.1 2014-03-21 ENSG00000198932 ENSG00000198932 9737.0 9737.0 """Armadillo repeat containing""" 24834.0 protein-coding gene gene with protein product 300417.0 9455477, 15086532, 16221301 Standard NM_014710 NM_014710 Approved GASP, GASP1 uc010nod.3 Q5JY77 OTTHUMG00000022061 ENST00000361600.5:c.2970G>C X.__UNKNOWN__:g.101911811G>C O43168|Q96LA1 __UNKNOWN__ CCDS35352.1 GPRASP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057634.2 + ENST00000361600.5 Silent SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF ARMCX1 51309 broad.mit.edu 37 X 100808105 100808105 + Silent SNP A A G TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chrX:100808105A>G ENST00000372829.3 + 4.0 563 c.192A>G c.(190-192)gcA>gcG p.A64A NM_016608.1 NP_057692.1 Q9P291 ARMX1_HUMAN armadillo repeat containing, X-linked 1 64.0 integral component of membrane (GO:0016021) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1) 19.0 ACGCTGGGGCAGGGTCTGGGG 0.527 0 68.0 60.0 63.0 X 100808105.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB039670 CCDS14487.1 Xq21.33-q22.2 2014-03-21 ENSG00000126947 ENSG00000126947 51309.0 51309.0 """Armadillo repeat containing""" 18073.0 protein-coding gene gene with protein product 300362.0 11162520, 16221301, 22569362 Standard NM_016608 NM_016608 Approved ALEX1, GASP7 uc004ehv.3 Q9P291 OTTHUMG00000022033 ENST00000372829.3:c.192A>G X.__UNKNOWN__:g.100808105A>G Q53HK2|Q9H2Q0 __UNKNOWN__ CCDS14487.1 ARMCX1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057561.1 + ENST00000372829.3 Silent SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF ID2 3398 broad.mit.edu 37 2 8822538 8822538 + Silent SNP G G A TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr2:8822538G>A ENST00000234091.4 + 3.0 1103 c.243G>A c.(241-243)tcG>tcA p.S81S ID2_ENST00000331129.3_Silent_p.S81S|ID2_ENST00000396290.1_Silent_p.S81S Q02363 ID2_HUMAN inhibitor of DNA binding 2, dominant negative helix-loop-helix protein 81.0 adipose tissue development (GO:0060612)|bundle of His development (GO:0003166)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|embryonic digestive tract morphogenesis (GO:0048557)|endodermal digestive tract morphogenesis (GO:0061031)|entrainment of circadian clock by photoperiod (GO:0043153)|enucleate erythrocyte differentiation (GO:0043353)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|locomotor rhythm (GO:0045475)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|membranous septum morphogenesis (GO:0003149)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|natural killer cell differentiation (GO:0001779)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of DNA binding (GO:0043392)|negative regulation of gene expression (GO:0010629)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate commitment (GO:0048663)|olfactory bulb development (GO:0021772)|oligodendrocyte development (GO:0014003)|Peyer's patch development (GO:0048541)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of lipid metabolic process (GO:0019216)|transcription, DNA-templated (GO:0006351) centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234) ion channel binding (GO:0044325) p.S81S(1) breast(1)|large_intestine(1)|lung(1)|prostate(1) 4.0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CCCTGGACTCGCATCCCACTA 0.582 1 Substitution - coding silent(1) prostate(1) 68.0 70.0 69.0 2 8822538.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS1659.1 2p25 2013-05-21 ENSG00000115738 ENSG00000115738 3398.0 3398.0 """Basic helix-loop-helix proteins""" 5361.0 protein-coding gene gene with protein product """cell growth-inhibiting gene 8""" 600386.0 8294468 Standard NM_002166 NM_002166 Approved GIG8, bHLHb26 uc002qza.3 Q02363 OTTHUMG00000112454 ENST00000234091.4:c.243G>A 2.__UNKNOWN__:g.8822538G>A __UNKNOWN__ CCDS1659.1 ID2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000231925.2 + ENST00000234091.4 Silent SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF SYPL1 0 broad.mit.edu 37 7 105738244 105738244 + Silent SNP T T C TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr7:105738244T>C ENST00000011473.2 - 4.0 394 c.348A>G c.(346-348)caA>caG p.Q116Q SYPL1_ENST00000455385.2_Silent_p.Q98Q|SYPL1_ENST00000470347.1_Silent_p.Q98Q NM_006754.3 NP_006745.1 Q16563 SYPL1_HUMAN synaptophysin-like 1 116.0 MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}. synaptic transmission (GO:0007268) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141) transporter activity (GO:0005215) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 7.0 TAACATAGAATTGTGCAGAAG 0.423 0 155.0 134.0 141.0 7 105738244.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS5736.1, CCDS47685.1 7q22.2 2005-05-24 2005-05-24 2005-05-24 ENSG00000008282 ENSG00000008282 6856.0 11507.0 protein-coding gene gene with protein product """synaptophysin-like protein""" SYPL Standard NM_006754 Approved uc003vdp.4 Q16563 OTTHUMG00000157587 ENST00000011473.2:c.348A>G 7.__UNKNOWN__:g.105738244T>C A4D0R2|Q96AR8 __UNKNOWN__ CCDS5736.1 . . . . . . . . . . T 10.62 1.401855 0.25291 . . ENSG00000008282 ENST00000464029 . . . 5.52 -2.56 0.06268 . . . . . T 0.63686 0.2532 . . . 0.80722 D 1 . . . . . . T 0.62576 -0.6825 4 . . . 2.9479 13.8388 0.63426 0.0:0.674:0.0:0.326 . . . . S 22 . . N - 2 0 SYPL1 105525480 0.991000 0.36638 0.992000 0.48379 0.996000 0.88848 0.190000 0.17057 -0.354000 0.08212 0.533000 0.62120 AAT SYPL1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000349221.1 - ENST00000011473.2 Silent SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF PCDHGA7 0 broad.mit.edu 37 5 140763352 140763352 + Missense_Mutation SNP T T C TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr5:140763352T>C ENST00000518325.1 + 1.0 886 c.886T>C c.(886-888)Tcg>Ccg p.S296P PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018920.2 NP_061743.1 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 296.0 Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}. homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49.0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCATCTGAACTCGCTTACAGG 0.418 0 56.0 56.0 56.0 5 140763352.0 1860.0 4107.0 5967.0 SO:0001583 missense AF152514 CCDS54927.1, CCDS75336.1 5q31 2010-01-26 ENSG00000253537 56108.0 56108.0 """Cadherins / Protocadherins : Clustered""" 8705.0 other protocadherin 606294.0 10380929 Standard NM_018920 NM_018920 Approved PCDH-GAMMA-A7 Q9Y5G6 ENST00000518325.1:c.886T>C 5.__UNKNOWN__:g.140763352T>C ENSP00000430024:p.Ser296Pro B2RN87|Q9Y5D0 __UNKNOWN__ CCDS54927.1 . . . . . . . . . . . 0.013 -1.617509 0.00828 . . ENSG00000253537 ENST00000518325 T 0.03124 4.04 5.15 2.71 0.32032 Cadherin (4);Cadherin-like (1); . . . . T 0.02380 0.0073 N 0.12443 0.215 0.09310 N 1 B;B 0.11235 0.0;0.004 B;B 0.15484 0.013;0.012 T 0.49418 -0.8942 9 0.19590 T 0.45 . 8.0274 0.30444 0.0:0.0711:0.1367:0.7922 . 296;296 Q9Y5G6;Q9Y5G6-2 PCDG7_HUMAN;. P 296 ENSP00000430024:S296P ENSP00000430024:S296P S + 1 0 PCDHGA7 140743536 0.000000 0.05858 0.862000 0.33874 0.268000 0.26511 -2.642000 0.00863 0.359000 0.24239 -0.316000 0.08728 TCG PCDHGA7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374744.1 + ENST00000518325.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF TMEM132E 124842 broad.mit.edu 37 17 32956104 32956104 + Missense_Mutation SNP C C T TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr17:32956104C>T ENST00000321639.5 + 5.0 1277 c.949C>T c.(949-951)Cgg>Tgg p.R317W NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 317.0 integral component of membrane (GO:0016021) p.R317W(1) 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) 57.0 BRCA - Breast invasive adenocarcinoma(366;0.231) GTCAGTCAAGCGGAGGATCAT 0.612 1 Substitution - Missense(1) cervix(1) TRP/ARG 0,4406 0,0,2203 100.0 93.0 95.0 949 3.5 1.0 17 95.0 1,8599 1.2+/-3.3 0,1,4299 no missense TMEM132E NM_207313.1 101 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 probably-damaging 317/985 32956104.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense BN000149 CCDS11283.1 17q12 2012-11-01 ENSG00000181291 ENSG00000181291 124842.0 124842.0 26991.0 protein-coding gene gene with protein product Standard NM_207313 NM_207313 Approved uc002hif.3 Q6IEE7 OTTHUMG00000132927 ENST00000321639.5:c.949C>T 17.__UNKNOWN__:g.32956104C>T ENSP00000316532:p.Arg317Trp Q8WUF4|Q8WVA5 __UNKNOWN__ CCDS11283.1 . . . . . . . . . . c 13.27 2.187608 0.38609 0.0 1.16E-4 ENSG00000181291 ENST00000321639 T 0.19532 2.14 4.51 3.53 0.40419 . 0.000000 0.85682 D 0.000000 T 0.42223 0.1193 M 0.65975 2.015 0.51233 D 0.999917 D 0.89917 1.0 D 0.91635 0.999 T 0.35943 -0.9768 10 0.72032 D 0.01 -29.8251 11.4588 0.50197 0.3265:0.6735:0.0:0.0 . 317 Q6IEE7 T132E_HUMAN W 317 ENSP00000316532:R317W ENSP00000316532:R317W R + 1 2 TMEM132E 29980217 0.995000 0.38212 0.984000 0.44739 0.044000 0.14063 1.296000 0.33389 1.236000 0.43740 0.447000 0.29281 CGG TMEM132E-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256440.2 + ENST00000321639.5 Missense_Mutation SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF C1orf106 55765 broad.mit.edu 37 1 200878465 200878465 + Missense_Mutation SNP G G A TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr1:200878465G>A ENST00000413687.2 + 8.0 1260 c.899G>A c.(898-900)cGc>cAc p.R300H C1orf106_ENST00000367342.4_Missense_Mutation_p.R385H NM_001142569.2 NP_001136041.1 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 385.0 Pro-rich. endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21.0 TGGCAGGGCCGCACCAGTGCC 0.642 0 19.0 20.0 19.0 1 200878465.0 2200.0 4297.0 6497.0 SO:0001583 missense AK001763 CCDS44292.1 1q32.1 2011-02-15 ENSG00000163362 ENSG00000163362 55765.0 55765.0 25599.0 protein-coding gene gene with protein product 14702039 Standard NM_018265 NM_018265 Approved FLJ10901 uc001gvo.4 Q3KP66 OTTHUMG00000035789 ENST00000413687.2:c.899G>A 1.__UNKNOWN__:g.200878465G>A ENSP00000392105:p.Arg300His B4E1K9|E9PFY0|Q9NV65|Q9NVI0 __UNKNOWN__ CCDS44292.1 . . . . . . . . . . G 19.94 3.920304 0.73098 . . ENSG00000163362 ENST00000367342;ENST00000413687 T;T 0.47177 0.85;0.88 5.14 4.22 0.49857 . 0.362860 0.25994 N 0.026993 T 0.50257 0.1605 L 0.51422 1.61 0.29496 N 0.855308 D 0.67145 0.996 P 0.51806 0.68 T 0.51474 -0.8701 10 0.49607 T 0.09 -18.9217 10.6241 0.45497 0.0912:0.0:0.9088:0.0 . 385 Q3KP66 CA106_HUMAN H 385;300 ENSP00000356311:R385H;ENSP00000392105:R300H ENSP00000356311:R385H R + 2 0 C1orf106 199145088 0.870000 0.30015 1.000000 0.80357 0.811000 0.45836 3.975000 0.56859 1.158000 0.42547 0.655000 0.94253 CGC C1orf106-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087058.10 + ENST00000413687.2 Missense_Mutation SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF BTN2A3P 0 broad.mit.edu 37 6 26428143 26428143 + RNA SNP G G C TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr6:26428143G>C ENST00000466808.2 + 0.0 1112 Q96KV6 BT2A3_HUMAN butyrophilin, subfamily 2, member A3, pseudogene integral component of membrane (GO:0016021) GATCCTGCCTGTTATCATGAT 0.428 0 181.0 169.0 173.0 6 26428143.0 2203.0 4300.0 6503.0 AL021917 6p22.1 2014-01-14 2011-09-06 2011-09-06 ENSG00000124549 ENSG00000124549 54718.0 54718.0 """Butyrophilins""" 13229.0 pseudogene pseudogene 613592.0 """butyrophilin, subfamily 2, member A3""" BTN2A3 Standard NR_027795 NR_027795 Approved BTN2.3 uc011dkl.1 Q96KV6 OTTHUMG00000014453 ENST00000466808.2: 6.__UNKNOWN__:g.26428143G>C A6NEF4 __UNKNOWN__ BTN2A3P-001 KNOWN basic processed_transcript pseudogene OTTHUMT00000040118.4 + ENST00000466808.2 RNA SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF SPIC 121599 broad.mit.edu 37 12 101880259 101880259 + Missense_Mutation SNP C C A TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr12:101880259C>A ENST00000551346.1 + 6.0 616 c.457C>A c.(457-459)Ctt>Att p.L153I SPIC_ENST00000299272.5_Missense_Mutation_p.L153I Q8N5J4 SPIC_HUMAN Spi-C transcription factor (Spi-1/PU.1 related) 153.0 blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 22.0 ACTTGCCGAGCTTTGGGGGAA 0.418 0 54.0 57.0 56.0 12 101880259.0 2203.0 4300.0 6503.0 SO:0001583 missense AF518404 CCDS9082.1 12q23 2005-10-18 ENSG00000166211 121599.0 121599.0 29549.0 protein-coding gene gene with protein product 612568.0 12459275 Standard NM_152323 NM_152323 Approved MGC40611, SPI-C uc021rcq.1 Q8N5J4 OTTHUMG00000170273 ENST00000551346.1:c.457C>A 12.__UNKNOWN__:g.101880259C>A ENSP00000448580:p.Leu153Ile __UNKNOWN__ CCDS9082.1 . . . . . . . . . . C 18.90 3.722300 0.68959 . . ENSG00000166211 ENST00000551346;ENST00000299272 T;T 0.59083 0.29;0.29 4.69 4.69 0.59074 Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4); 0.118491 0.64402 D 0.000014 T 0.75708 0.3886 M 0.86028 2.79 0.38165 D 0.939168 D 0.89917 1.0 D 0.87578 0.998 T 0.78507 -0.2177 10 0.37606 T 0.19 0.1823 11.5071 0.50472 0.0:0.9167:0.0:0.0833 . 153 Q8N5J4 SPIC_HUMAN I 153 ENSP00000448580:L153I;ENSP00000299272:L153I ENSP00000299272:L153I L + 1 0 SPIC 100404390 1.000000 0.71417 0.999000 0.59377 0.948000 0.59901 2.781000 0.47750 2.323000 0.78572 0.650000 0.86243 CTT SPIC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000408260.1 + ENST00000551346.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF ITGBL1 9358 broad.mit.edu 37 13 102359178 102359178 + Missense_Mutation SNP G G A rs149770736 TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr13:102359178G>A ENST00000376180.3 + 9.0 1424 c.1205G>A c.(1204-1206)cGg>cAg p.R402Q ITGBL1_ENST00000545560.2_Missense_Mutation_p.R261Q|ITGBL1_ENST00000376162.3_Missense_Mutation_p.R309Q NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 402.0 Cysteine-rich tandem repeats. cell adhesion (GO:0007155) extracellular region (GO:0005576) breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31.0 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CAACATCCGCGGAAGTGTAAC 0.517 0 G GLN/ARG 0,4406 0,0,2203 167.0 140.0 149.0 1205 4.1 0.4 13 dbSNP_134 149.0 1,8599 1.2+/-3.3 0,1,4299 no missense ITGBL1 NM_004791.1 43 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 probably-damaging 402/495 102359178.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AF072752 CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1 13q33 2008-07-18 ENSG00000198542 ENSG00000198542 9358.0 9358.0 6164.0 protein-coding gene gene with protein product """ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1""" 604234.0 10051402 Standard NM_004791 NM_004791 Approved TIED, OSCP uc001vpb.4 O95965 OTTHUMG00000017296 ENST00000376180.3:c.1205G>A 13.__UNKNOWN__:g.102359178G>A ENSP00000365351:p.Arg402Gln A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0 __UNKNOWN__ CCDS9499.1 . . . . . . . . . . G 17.84 3.488367 0.64074 0.0 1.16E-4 ENSG00000198542 ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162 T;T;T 0.58797 0.31;0.31;0.31 5.91 4.08 0.47627 . 0.044027 0.85682 N 0.000000 T 0.42040 0.1185 L 0.33137 0.985 0.43444 D 0.995628 B;B 0.18610 0.005;0.029 B;B 0.18871 0.002;0.023 T 0.15150 -1.0447 10 0.12766 T 0.61 . 10.0239 0.42059 0.0782:0.1376:0.7841:0.0 . 261;402 B3KTP1;O95965 .;ITGBL_HUMAN Q 402;310;261;261;309 ENSP00000365351:R402Q;ENSP00000439903:R261Q;ENSP00000365332:R309Q ENSP00000365332:R309Q R + 2 0 ITGBL1 101157179 1.000000 0.71417 0.442000 0.26870 0.888000 0.51559 6.383000 0.73172 0.737000 0.32582 0.655000 0.94253 CGG ITGBL1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045669.2 + ENST00000376180.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF CCHCR1 54535 broad.mit.edu 37 6 31110764 31110766 + In_Frame_Del DEL CTG CTG - rs140560656 TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr6:31110764_31110766delCTG ENST00000396268.3 - 17.0 2653_2655 c.2465_2467delCAG c.(2464-2469)gcagtg>gtg p.A822del CCHCR1_ENST00000396263.2_In_Frame_Del_p.A680del|CCHCR1_ENST00000451521.2_In_Frame_Del_p.A786del|CCHCR1_ENST00000376266.5_In_Frame_Del_p.A733del NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 733.0 cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611) centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23.0 CTGGTGGGCACTGCTGCTGCTAC 0.532 0 SO:0001651 inframe_deletion AF216493 CCDS4695.1, CCDS43445.1, CCDS47397.1 6p21.3 2007-08-01 2005-02-15 2005-02-16 ENSG00000204536 ENSG00000204536 54535.0 54535.0 13930.0 protein-coding gene gene with protein product 605310.0 """chromosome 6 open reading frame 18""" C6orf18 10888604, 10545595 Standard NM_019052 NM_019052 Approved HCR uc003nsp.4 Q8TD31 OTTHUMG00000031112 ENST00000396268.3:c.2465_2467delCAG 6.__UNKNOWN__:g.31110770_31110772delCTG ENSP00000379566:p.Ala822del A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2 __UNKNOWN__ CCDS43445.1 CCHCR1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000257971.2 - ENST00000396268.3 In_Frame_Del DEL PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF ABCB6 10058 bcgsc.ca 37 2 220075738 220075738 + Silent SNP G G A TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr2:220075738G>A ENST00000265316.3 - 15.0 2377 c.2061C>T c.(2059-2061)ggC>ggT p.G687G ABCB6_ENST00000439002.2_Silent_p.G641G NM_005689.2 NP_005680.1 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) 687.0 ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}. brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810) ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439) 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) 34.0 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) CTGTGACACGGCCGTAACGGA 0.552 0 93.0 84.0 87.0 2 220075738.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF070598 CCDS2436.1 2q36 2014-08-27 2014-08-27 ENSG00000115657 ENSG00000115657 10058.0 10058.0 """ATP binding cassette transporters / subfamily B""" 47.0 protein-coding gene gene with protein product """ATP-binding cassette half-transporter""" 605452 """ATP-binding cassette, sub-family B (MDR/TAP), member 6""" 8894702, 9110174 Standard NM_005689 NM_005689 Approved EST45597, umat, MTABC3 uc002vkc.2 Q9NP58 OTTHUMG00000133131 ENST00000265316.3:c.2061C>T 2.__UNKNOWN__:g.220075738G>A O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7 __UNKNOWN__ CCDS2436.1 . . . . . . . . . . G 8.907 0.957808 0.18507 . . ENSG00000115657 ENST00000295750 . . . 4.7 4.7 0.59300 . . . . . T 0.48409 0.1498 . . . 0.80722 D 1 . . . . . . T 0.47898 -0.9081 4 . . . -20.8679 3.9145 0.09217 0.0879:0.1617:0.5828:0.1676 . . . . V 535 . . A - 2 0 ABCB6 219783982 0.981000 0.34729 1.000000 0.80357 0.870000 0.49936 0.275000 0.18698 2.577000 0.86979 0.650000 0.86243 GCC ABCB6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256820.2 - ENST00000265316.3 Silent SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF NCAPD3 23310 bcgsc.ca 37 11 134026917 134026917 + Silent SNP G G A TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr11:134026917G>A ENST00000534548.2 - 32.0 4312 c.4248C>T c.(4246-4248)ccC>ccT p.P1416P NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1416.0 mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076) germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654) methylated histone binding (GO:0035064) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71.0 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) ACTCACTCTCGGGGGTGCTGA 0.522 0 G 0,4402 0,0,2201 210.0 170.0 184.0 4248 -9.6 0.4 11 184.0 1,8593 1.2+/-3.3 0,1,4296 no coding-synonymous NCAPD3 NM_015261.2 0,1,6497 AA,AG,GG 0.0116,0.0,0.0077 1416/1499 134026917.0 1,12995 2201.0 4297.0 6498.0 SO:0001819 synonymous_variant AK124878 CCDS31723.1 11q25 2008-02-04 ENSG00000151503 ENSG00000151503 23310.0 23310.0 28952.0 protein-coding gene gene with protein product 609276 7584044, 8619474, 14532007 Standard NM_015261 NM_015261 Approved hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6 uc001qhd.1 P42695 OTTHUMG00000167172 ENST00000534548.2:c.4248C>T 11.__UNKNOWN__:g.134026917G>A A6NFS2|Q4KMQ9 __UNKNOWN__ CCDS31723.1 NCAPD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393575.2 - ENST00000534548.2 Silent SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF CACNA1G 8913 ucsc.edu 37 17 48697053 48697053 + Missense_Mutation SNP C C A TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr17:48697053C>A ENST00000515411.1 + 33.0 5737 c.5737C>A c.(5737-5739)Ctg>Atg p.L1913M CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000359106.5_Missense_Mutation_p.L1931M|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.L1920M|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000354983.4_Missense_Mutation_p.L1897M|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000510115.1_Missense_Mutation_p.L1897M|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000507510.2_Missense_Mutation_p.L1931M|CACNA1G_ENST00000513689.2_Missense_Mutation_p.L1886M|CACNA1G_ENST00000515765.1_Missense_Mutation_p.L1920M|CACNA1G_ENST00000514079.1_Intron NM_001256324.1 NP_001243253.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1931.0 axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810) plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110) breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47.0 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GGACAGGCAGCTGTTTGACAC 0.647 0 21.0 24.0 23.0 17 48697053.0 1978.0 4155.0 6133.0 SO:0001583 missense AC004590 CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1 17q22 2012-03-07 2007-02-16 ENSG00000006283 ENSG00000006283 8913.0 8913.0 """Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels""" 1394.0 protein-coding gene gene with protein product 604065 9495342, 16382099 Standard NM_018896 NM_001256334 Approved Cav3.1, NBR13 uc002irk.2 O43497 OTTHUMG00000162180 ENST00000515411.1:c.5737C>A 17.__UNKNOWN__:g.48697053C>A ENSP00000423155:p.Leu1913Met D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3 __UNKNOWN__ CCDS58568.1 . . . . . . . . . . c 7.621 0.676855 0.14841 . . ENSG00000006283 ENST00000354983;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000510115;ENST00000515765;ENST00000359106;ENST00000515411 D;D;D;D;D;D;D;D 0.97089 -4.21;-4.14;-4.22;-4.24;-4.14;-4.14;-4.22;-4.13 4.66 3.67 0.42095 . 1.105850 0.06859 N 0.798689 D 0.88265 0.6390 N 0.02011 -0.69 0.25248 N 0.989696 B;B;B;B;B;B;B;B 0.15141 0.01;0.004;0.004;0.002;0.012;0.001;0.004;0.002 B;B;B;B;B;B;B;B 0.18871 0.023;0.008;0.007;0.005;0.02;0.004;0.008;0.005 T 0.81656 -0.0834 10 0.09590 T 0.72 . 4.4353 0.11547 0.383:0.4925:0.0:0.1245 . 1913;1886;1920;1920;1908;1931;1897;1931 Q19R07;Q19QY8;Q19QZ7;Q19QZ8;O43497-4;Q19R02;Q19R11;O43497 .;.;.;.;.;.;.;CAC1G_HUMAN M 1897;1931;1920;1886;1897;1920;1931;1913 ENSP00000347078:L1897M;ENSP00000423112:L1931M;ENSP00000420918:L1920M;ENSP00000426172:L1886M;ENSP00000427173:L1897M;ENSP00000426232:L1920M;ENSP00000352011:L1931M;ENSP00000423155:L1913M ENSP00000347078:L1897M L + 1 2 CACNA1G 46052052 0.999000 0.42202 1.000000 0.80357 0.994000 0.84299 0.719000 0.25881 0.930000 0.37217 0.557000 0.71058 CTG CACNA1G-034 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000367938.1 + ENST00000515411.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF ERVW-1 30816 ucsc.edu 37 7 92099157 92099157 + Missense_Mutation SNP G G A TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr7:92099157G>A ENST00000493463.2 - 1.0 1462 c.539C>T c.(538-540)gCc>gTc p.A180V AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Missense_Mutation_p.A180V|ERVW-1_ENST00000604270.1_Intron NM_014590.3 NP_055405.3 Q9UQF0 SYCY1_HUMAN endogenous retrovirus group W, member 1 180.0 anatomical structure morphogenesis (GO:0009653)|syncytium formation (GO:0006949) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031) endometrium(1)|large_intestine(1)|lung(15) 17.0 agggttttgggccgagacctc 0.468 0 39.0 41.0 40.0 7 92099157.0 2203.0 4298.0 6501.0 SO:0001583 missense AF208161 CCDS5626.1 7q21.2 2011-06-16 2011-05-05 2011-05-05 ENSG00000242950 ENSG00000242950 30816.0 30816.0 13525.0 other endogenous retrovirus """envelope protein"", ""HERV-W Env glycoprotein"", ""enverin"", ""syncytin-1"", ""HERV-tryptophan envelope protein"", ""HERV-W{7q21.1} provirus ancestral Env polyprotein"", ""HERV-7q envelope protein"", ""envelope glycoprotein"", ""syncytin""" 604659 """endogenous retroviral family W, env(C7), member 1""" ERVWE1 9835022, 9882319, 21542922 Standard NM_014590 NM_001130925 Approved HERV-W, HERV-W-ENV, HERVW, HERV-7q uc022ahe.1 Q9UQF0 OTTHUMG00000131249 ENST00000493463.2:c.539C>T 7.__UNKNOWN__:g.92099157G>A ENSP00000419945:p.Ala180Val B2RPD4|O95244|O95245|Q8NHY7|Q9NRZ2|Q9NZG3 __UNKNOWN__ CCDS5626.1 . . . . . . . . . . G 11.11 1.542984 0.27563 . . ENSG00000242950 ENST00000493463 T 0.17213 2.29 0.0465 0.0465 0.14256 . . . . . T 0.14614 0.0353 L 0.31926 0.97 0.09310 N 0.999999 . . . . . . T 0.29305 -1.0016 6 0.62326 D 0.03 . . . . . . . . V 180 ENSP00000419945:A180V ENSP00000419945:A180V A - 2 0 ERVW-1 91937093 0.603000 0.26924 0.499000 0.27577 0.503000 0.33858 0.170000 0.16663 0.132000 0.18615 0.134000 0.15878 GCC ERVW-1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254009.2 - ENST00000493463.2 Missense_Mutation SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF LRRFIP1 9208 ucsc.edu 37 2 238671763 238671763 + Silent SNP G G A TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr2:238671763G>A ENST00000308482.9 + 19.0 1528 LRRFIP1_ENST00000289175.6_Silent_p.G413G|LRRFIP1_ENST00000392000.4_Silent_p.G469G|LRRFIP1_ENST00000244815.5_Silent_p.G445G NM_001137550.1 NP_001131022.1 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803) NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29.0 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) CAAGCACAGGGCATAGTTTAG 0.488 0 71.0 74.0 73.0 2 238671763.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AJ223075 CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1 2q37.3 2010-09-30 ENSG00000124831 ENSG00000124831 9208.0 9208.0 6702.0 protein-coding gene gene with protein product """GC-binding factor 2""" 603256 9705290, 9525888, 16199883 Standard NM_004735 NM_004735 Approved FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1 uc002vxe.3 Q32MZ4 OTTHUMG00000133339 ENST00000308482.9:c.1459+2915G>A 2.__UNKNOWN__:g.238671763G>A E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607 __UNKNOWN__ CCDS46551.1 LRRFIP1-002 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000257169.3 + ENST00000308482.9 Intron SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF CTD-2330K9.3 84315 ucsc.edu 37 3 49946547 49946547 + Missense_Mutation SNP A A G rs35936877 TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr3:49946547A>G ENST00000419183.1 + 1.0 104 MON1A_ENST00000455683.2_Missense_Mutation_p.L458P|MON1A_ENST00000417270.1_Missense_Mutation_p.L531P|MON1A_ENST00000296473.3_Missense_Mutation_p.L620P CTTGGTCCCCAGGGGGCTGTA 0.577 0 42.0 39.0 40.0 3 49946547.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant ENST00000419183.1:c.26+5024A>G 3.__UNKNOWN__:g.49946547A>G __UNKNOWN__ . . . . . . . . . . A 24.7 4.558972 0.86231 . . ENSG00000164077 ENST00000296473;ENST00000417270;ENST00000455683 . . . 5.37 5.37 0.77165 . 0.000000 0.64402 D 0.000001 D 0.84763 0.5544 M 0.90082 3.085 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 0.999;1.0 D 0.88188 0.2875 9 0.87932 D 0 -9.0184 15.0824 0.72125 1.0:0.0:0.0:0.0 . 458;523 G5E9N1;Q86VX9 .;MON1A_HUMAN P 620;531;458 . ENSP00000296473:L620P L - 2 0 MON1A 49921551 1.000000 0.71417 0.998000 0.56505 0.982000 0.71751 9.287000 0.95975 2.039000 0.60335 0.524000 0.50904 CTG CTD-2330K9.3-003 PUTATIVE basic|appris_principal|exp_conf protein_coding protein_coding OTTHUMT00000345527.2 + ENST00000419183.1 Intron SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF SH3BP1 23616 ucsc.edu 37 22 38049870 38049870 + Missense_Mutation SNP G G T TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr22:38049870G>T ENST00000357436.4 + 17.0 1996 c.1683G>T c.(1681-1683)atG>atT p.M561I SH3BP1_ENST00000599616.1_Missense_Mutation_p.M497I|Z83844.1_ENST00000456099.1_RNA NM_018957.3 NP_061830.3 Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 561.0 signal transduction (GO:0007165) cytoplasm (GO:0005737) GTPase activator activity (GO:0005096) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13.0 Melanoma(58;0.0574) TGGAGGACATGGCTCGGAGGA 0.652 0 33.0 34.0 34.0 22 38049870.0 2201.0 4300.0 6501.0 SO:0001583 missense CCDS13952.2 22q13.1 2011-07-04 ENSG00000100092 ENSG00000100092 23616.0 23616.0 """Rho GTPase activating proteins""" 10824.0 protein-coding gene gene with protein product 10591208, 12029088 Standard NM_018957 NM_018957 Approved ARHGAP43 uc003ati.3 Q9Y3L3 OTTHUMG00000030996 ENST00000357436.4:c.1683G>T 22.__UNKNOWN__:g.38049870G>T ENSP00000350018:p.Met561Ile Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9 __UNKNOWN__ CCDS13952.2 . . . . . . . . . . G 1.659 -0.511977 0.04200 . . ENSG00000100092 ENST00000357436;ENST00000397014 T 0.14516 2.5 5.45 -0.489 0.12052 . 1.143690 0.06381 N 0.715220 T 0.07728 0.0194 N 0.19112 0.55 0.09310 N 1 B;B;B;B 0.26672 0.156;0.022;0.013;0.156 B;B;B;B 0.19666 0.026;0.01;0.002;0.026 T 0.39078 -0.9631 10 0.30078 T 0.28 . 4.128 0.10136 0.3833:0.1691:0.4476:0.0 . 475;497;561;475 E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5 .;.;3BP1_HUMAN;. I 561;475 ENSP00000350018:M561I ENSP00000350018:M561I M + 3 0 SH3BP1 36379816 0.016000 0.18221 0.074000 0.20217 0.155000 0.21991 0.019000 0.13444 0.126000 0.18424 -0.140000 0.14226 ATG SH3BP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000075884.4 + ENST00000357436.4 Missense_Mutation SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF SLC9A5 6553 ucsc.edu 37 16 67290443 67290443 + Missense_Mutation SNP T T C TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr16:67290443T>C ENST00000299798.11 + 6.0 1048 c.983T>C c.(982-984)gTc>gCc p.V328A NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 328.0 ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) sodium:proton antiporter activity (GO:0015385) breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27.0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGCACAACTGTCAAATATACA 0.522 0 120.0 117.0 118.0 16 67290443.0 2049.0 4210.0 6259.0 SO:0001583 missense CCDS42178.1 16q22.1 2013-05-22 2012-03-22 ENSG00000135740 ENSG00000135740 6553.0 6553.0 """Solute carriers""" 11078.0 protein-coding gene gene with protein product 600477 """solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5""" 7759094, 9933642 Standard NM_004594 Approved NHE5 uc002esm.3 Q14940 OTTHUMG00000172935 ENST00000299798.11:c.983T>C 16.__UNKNOWN__:g.67290443T>C ENSP00000299798:p.Val328Ala A5PKY7|Q9Y626 __UNKNOWN__ CCDS42178.1 . . . . . . . . . . T 20.5 4.003935 0.74932 . . ENSG00000135740 ENST00000299798 T 0.16597 2.33 5.54 5.54 0.83059 Cation/H+ exchanger (1); 0.000000 0.85682 D 0.000000 T 0.30823 0.0777 L 0.38649 1.16 0.58432 D 0.999999 D 0.61080 0.989 D 0.64321 0.924 T 0.02269 -1.1185 10 0.87932 D 0 . 15.1434 0.72630 0.0:0.0:0.0:1.0 . 328 Q14940 SL9A5_HUMAN A 328 ENSP00000299798:V328A ENSP00000299798:V328A V + 2 0 SLC9A5 65847944 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.988000 0.88194 2.233000 0.73108 0.482000 0.46254 GTC SLC9A5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000421386.1 + ENST00000299798.11 Missense_Mutation SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF SHC4 399694 hgsc.bcm.edu 37 15 49160067 49160067 + Splice_Site SNP C C A TCGA-SP-A6QH-01A-21D-A35I-08 TCGA-SP-A6QH-11A-12D-A35G-08 C C . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 06c3f43d-8457-4be9-95fd-b7c86e5ad223 b9e1eb7d-7b59-483a-a035-d7b571ca085e g.chr15:49160067C>A ENST00000332408.4 - 6.0 1323 c.e6-1 SHC4_ENST00000396535.3_Splice_Site|SHC4_ENST00000537958.1_Splice_Site NM_203349.3 NP_976224.3 Q6S5L8 SHC4_HUMAN SHC (Src homology 2 domain containing) family, member 4 apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863) cell junction (GO:0030054)|postsynaptic membrane (GO:0045211) breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29.0 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) CTGTAGTATCCTATAAAAAAG 0.338 0 90.0 92.0 91.0 15 49160067.0 2197.0 4293.0 6490.0 SO:0001630 splice_region_variant AY358250 CCDS10130.1 15q21.1-q21.2 2013-02-14 ENSG00000185634 ENSG00000185634 399694.0 399694.0 """SH2 domain containing""" 16743.0 protein-coding gene gene with protein product """rai-like protein""" Standard NM_203349 NM_203349 Approved RaLP uc001zxb.1 Q6S5L8 OTTHUMG00000131513 ENST00000332408.4:c.895-1G>T 15.__UNKNOWN__:g.49160067C>A Q6UXQ3|Q8IYW3 __UNKNOWN__ CCDS10130.1 . . . . . . . . . . C 22.0 4.228404 0.79576 . . ENSG00000185634 ENST00000332408;ENST00000396535;ENST00000537958 . . . 5.37 5.37 0.77165 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 19.3137 0.94202 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . SHC4 46947359 1.000000 0.71417 1.000000 0.80357 0.985000 0.73830 6.465000 0.73538 2.788000 0.95919 0.650000 0.86243 . SHC4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254371.1 Intron - ENST00000332408.4 Splice_Site SNP PCPG-TCGA-SP-A6QH-Normal-SM-5EMMF CLIP1 6249 broad.mit.edu 37 12 122825338 122825338 + Missense_Mutation SNP T T C TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr12:122825338T>C ENST00000540338.1 - 10.0 2454 c.2413A>G c.(2413-2415)Aaa>Gaa p.K805E CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000537178.1_Missense_Mutation_p.K759E|CLIP1_ENST00000545889.1_Intron|CLIP1_ENST00000358808.2_Missense_Mutation_p.K794E|CLIP1_ENST00000302528.7_Missense_Mutation_p.K794E P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 805.0 microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810) cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630) metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270) NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60.0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TCTAAATGTTTAATCTGTTTC 0.368 0 103.0 107.0 106.0 12 122825338.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS9232.1, CCDS9233.1, CCDS58285.1 12q24.3 2013-01-17 2007-01-05 2007-01-05 ENSG00000130779 ENSG00000130779 6249.0 6249.0 10461.0 protein-coding gene gene with protein product """restin""" 179838.0 """restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)""" RSN 8222754 Standard NM_002956 NM_001247997 Approved CYLN1, CLIP170, CLIP, CLIP-170 uc001ucg.2 P30622 OTTHUMG00000168922 ENST00000540338.1:c.2413A>G 12.__UNKNOWN__:g.122825338T>C ENSP00000439093:p.Lys805Glu A0AVD3|Q17RS4|Q29RG0 __UNKNOWN__ CCDS58285.1 . . . . . . . . . . T 13.42 2.233114 0.39498 . . ENSG00000130779 ENST00000302528;ENST00000358808;ENST00000537178;ENST00000540338 T;T;T;T 0.75477 -0.94;-0.94;0.78;0.79 5.73 3.29 0.37713 . 0.470083 0.24359 N 0.039206 T 0.66376 0.2783 L 0.59436 1.845 0.26654 N 0.972049 P;P;P 0.38827 0.649;0.649;0.518 B;B;B 0.39840 0.311;0.311;0.164 T 0.53899 -0.8373 10 0.12766 T 0.61 -9.4091 8.3131 0.32084 0.0:0.0716:0.3122:0.6162 . 759;794;805 P30622-2;P30622-1;P30622 .;.;CLIP1_HUMAN E 794;794;759;805 ENSP00000303585:K794E;ENSP00000351665:K794E;ENSP00000445531:K759E;ENSP00000439093:K805E ENSP00000303585:K794E K - 1 0 CLIP1 121391291 1.000000 0.71417 0.483000 0.27378 0.997000 0.91878 1.578000 0.36525 0.485000 0.27652 0.533000 0.62120 AAA CLIP1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000401625.1 - ENST00000540338.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QI-Normal-SM-5EMM2 COLGALT2 23127 broad.mit.edu 37 1 183933121 183933121 + Missense_Mutation SNP T T C TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr1:183933121T>C ENST00000361927.4 - 6.0 1237 c.866A>G c.(865-867)tAt>tGt p.Y289C COLGALT2_ENST00000546159.1_Missense_Mutation_p.Y289C|COLGALT2_ENST00000367520.3_Missense_Mutation_p.Y26C NM_015101.2 NP_055916.1 Q8IYK4 GT252_HUMAN collagen beta(1-O)galactosyltransferase 2 289.0 extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103) endoplasmic reticulum lumen (GO:0005788) procollagen galactosyltransferase activity (GO:0050211) CAGGTAGCCATAGTGCTCTCT 0.517 0 142.0 114.0 123.0 1 183933121.0 2203.0 4300.0 6503.0 SO:0001583 missense AF288389 CCDS1360.1 1q25 2013-02-27 2013-02-27 2013-02-27 ENSG00000198756 ENSG00000198756 23127.0 23127.0 16790.0 protein-coding gene gene with protein product """chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2""" C1orf17, GLT25D2 19075007 Standard NM_015101 XM_005245008 Approved KIAA0584 uc001gqr.3 Q8IYK4 OTTHUMG00000035460 ENST00000361927.4:c.866A>G 1.__UNKNOWN__:g.183933121T>C ENSP00000354960:p.Tyr289Cys O60327|Q9BZR0 __UNKNOWN__ CCDS1360.1 . . . . . . . . . . T 19.14 3.768921 0.69878 . . ENSG00000198756 ENST00000546159;ENST00000361927;ENST00000367520 T;T 0.60424 0.19;0.19 5.74 4.57 0.56435 . 0.000000 0.85682 D 0.000000 T 0.80248 0.4588 M 0.92459 3.31 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;0.999;0.996 D 0.83599 0.0127 10 0.87932 D 0 . 11.8976 0.52665 0.1308:0.0:0.0:0.8692 . 289;289;26 F5H3T5;Q8IYK4;Q5SXQ3 .;GT252_HUMAN;. C 289;289;26 ENSP00000439112:Y289C;ENSP00000354960:Y289C ENSP00000354960:Y289C Y - 2 0 GLT25D2 182199744 1.000000 0.71417 0.998000 0.56505 0.994000 0.84299 5.831000 0.69330 0.938000 0.37419 0.533000 0.62120 TAT COLGALT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086128.1 - ENST00000361927.4 Missense_Mutation SNP PCPG-TCGA-SP-A6QI-Normal-SM-5EMM2 METAP1D 254042 broad.mit.edu 37 2 172928475 172928475 + Missense_Mutation SNP G G C TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr2:172928475G>C ENST00000315796.4 + 3.0 622 c.235G>C c.(235-237)Gta>Cta p.V79L METAP1D_ENST00000488581.1_3'UTR NM_199227.1 NP_954697.1 Q6UB28 MAP12_HUMAN methionyl aminopeptidase type 1D (mitochondrial) 79.0 N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084) mitochondrion (GO:0005739) aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235) NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8.0 GACAGGCATTGTACCAGACTG 0.483 0 111.0 91.0 98.0 2 172928475.0 2203.0 4300.0 6503.0 SO:0001583 missense AY374142, BC029123 CCDS2246.1 2q31.1 2010-09-21 ENSG00000172878 ENSG00000172878 254042.0 254042.0 32583.0 protein-coding gene gene with protein product """methionine aminopeptidase 1D""" 610267.0 14532271, 16568094 Standard NM_199227 NM_199227 Approved MAP1D, Metap1l uc002uhk.3 Q6UB28 OTTHUMG00000132283 ENST00000315796.4:c.235G>C 2.__UNKNOWN__:g.172928475G>C ENSP00000315152:p.Val79Leu Q1WNX3 __UNKNOWN__ CCDS2246.1 . . . . . . . . . . G 15.16 2.749526 0.49257 . . ENSG00000172878 ENST00000315796 T 0.42131 0.98 5.49 5.49 0.81192 Peptidase M24, structural domain (1); 0.055265 0.64402 D 0.000001 T 0.45276 0.1334 M 0.64170 1.965 0.80722 D 1 B 0.20052 0.041 B 0.17098 0.017 T 0.29579 -1.0007 10 0.34782 T 0.22 -5.989 19.7404 0.96228 0.0:0.0:1.0:0.0 . 79 Q6UB28 AMP1D_HUMAN L 79 ENSP00000315152:V79L ENSP00000315152:V79L V + 1 0 METAP1D 172636721 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.024000 0.64090 2.734000 0.93682 0.655000 0.94253 GTA METAP1D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255378.2 + ENST00000315796.4 Missense_Mutation SNP PCPG-TCGA-SP-A6QI-Normal-SM-5EMM2 IGDCC4 57722 broad.mit.edu 37 15 65678300 65678300 + Missense_Mutation SNP C C G TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr15:65678300C>G ENST00000352385.2 - 18.0 3258 c.3049G>C c.(3049-3051)Gaa>Caa p.E1017Q NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1017.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44.0 GACTCCAATTCATGGGCAGCT 0.677 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 13.0 15.0 14.0 15 65678300.0 2153.0 4239.0 6392.0 SO:0001583 missense CCDS10206.1 15q22.31 2013-02-11 ENSG00000103742 ENSG00000103742 57722.0 57722.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 13770.0 protein-coding gene gene with protein product """likely ortholog of mouse neighbor of Punc E11""" Standard NM_020962 NM_020962 Approved NOPE, LOC57722 uc002aou.1 Q8TDY8 OTTHUMG00000133136 ENST00000352385.2:c.3049G>C 15.__UNKNOWN__:g.65678300C>G ENSP00000319623:p.Glu1017Gln 1086.0 Q9HCE4 __UNKNOWN__ CCDS10206.1 . . . . . . . . . . C 16.16 3.044321 0.55110 . . ENSG00000103742 ENST00000352385;ENST00000356152 T 0.62639 0.01 4.82 4.82 0.62117 . 0.000000 0.64402 D 0.000017 T 0.74053 0.3666 L 0.55481 1.735 0.38802 D 0.955218 D 0.89917 1.0 D 0.66716 0.946 T 0.77194 -0.2677 10 0.56958 D 0.05 -15.4077 16.2555 0.82515 0.0:1.0:0.0:0.0 . 1017 Q8TDY8 IGDC4_HUMAN Q 1017;746 ENSP00000319623:E1017Q ENSP00000319623:E1017Q E - 1 0 IGDCC4 63465353 1.000000 0.71417 0.993000 0.49108 0.046000 0.14306 4.821000 0.62679 2.503000 0.84419 0.561000 0.74099 GAA IGDCC4-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000256825.2 - ENST00000352385.2 Missense_Mutation SNP PCPG-TCGA-SP-A6QI-Normal-SM-5EMM2 FBXL14 144699 broad.mit.edu 37 12 1702668 1702668 + Missense_Mutation SNP G G A TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr12:1702668G>A ENST00000339235.3 - 1.0 663 c.565C>T c.(565-567)Cac>Tac p.H189Y WNT5B_ENST00000537031.1_Intron NM_152441.2 NP_689654.1 Q8N1E6 FXL14_HUMAN F-box and leucine-rich repeat protein 14 189.0 protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) ubiquitin-protein transferase activity (GO:0004842) endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 8.0 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00115) CCGGCCAGGTGCCCGATGCCC 0.637 0 30.0 27.0 28.0 12 1702668.0 2202.0 4297.0 6499.0 SO:0001583 missense BC028132 CCDS8509.1 12p13.33 2011-06-09 ENSG00000171823 ENSG00000171823 144699.0 144699.0 """F-boxes / Leucine-rich repeats""" 28624.0 protein-coding gene gene with protein product 609081 12477932 Standard NM_152441 NM_152441 Approved MGC40195, Fbl14 uc001qjh.3 Q8N1E6 OTTHUMG00000090369 ENST00000339235.3:c.565C>T 12.__UNKNOWN__:g.1702668G>A ENSP00000344855:p.His189Tyr __UNKNOWN__ CCDS8509.1 . . . . . . . . . . G 15.12 2.738613 0.49045 . . ENSG00000171823 ENST00000339235 T 0.02395 4.31 4.47 4.47 0.54385 . 0.000000 0.85682 D 0.000000 T 0.03871 0.0109 L 0.43701 1.375 0.58432 D 0.999991 B 0.14438 0.01 B 0.14023 0.01 T 0.47058 -0.9146 10 0.33141 T 0.24 . 14.5775 0.68258 0.0:0.1464:0.8536:0.0 . 189 Q8N1E6 FXL14_HUMAN Y 189 ENSP00000344855:H189Y ENSP00000344855:H189Y H - 1 0 FBXL14 1572929 1.000000 0.71417 1.000000 0.80357 0.962000 0.63368 7.645000 0.83430 2.294000 0.77228 0.650000 0.86243 CAC FBXL14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000206741.1 - ENST00000339235.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QI-Normal-SM-5EMM2 SMPDL3B 27293 broad.mit.edu 37 1 28282678 28282678 + Missense_Mutation SNP C C A TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr1:28282678C>A ENST00000373894.3 + 7.0 1196 SMPDL3B_ENST00000549094.1_Intron|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.L364I|RP11-460I13.2_ENST00000448015.1_RNA NM_014474.2 NP_055289.2 Q92485 ASM3B_HUMAN sphingomyelin phosphodiesterase, acid-like 3B sphingomyelin catabolic process (GO:0006685) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767) endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 16.0 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|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;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055) GCTTATCCACCTTCCCCTGAC 0.602 0 122.0 94.0 104.0 1 28282678.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant Y08134 CCDS30655.1, CCDS30656.1 1p35.3 2008-02-05 ENSG00000130768 ENSG00000130768 27293.0 27293.0 21416.0 protein-coding gene gene with protein product Standard NM_014474 NM_014474 Approved ASML3B uc001bpg.3 Q92485 OTTHUMG00000003910 ENST00000373894.3:c.1005+85C>A 1.__UNKNOWN__:g.28282678C>A B7ZB35|Q5T0Z0|Q96CB7 __UNKNOWN__ CCDS30655.1 . . . . . . . . . . C 6.218 0.408311 0.11754 . . ENSG00000130768 ENST00000373888 T 0.25579 1.79 3.83 -1.47 0.08772 . . . . . T 0.11623 0.0283 . . . 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.32561 -0.9902 7 . . . . 3.4981 0.07662 0.4485:0.3023:0.0:0.2492 . 364 Q92485-2 . I 364 ENSP00000362995:L364I . L + 1 0 SMPDL3B 28155265 0.000000 0.05858 0.000000 0.03702 0.015000 0.08874 -0.494000 0.06451 -0.427000 0.07350 0.455000 0.32223 CTT SMPDL3B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000011170.1 + ENST00000373894.3 Intron SNP PCPG-TCGA-SP-A6QI-Normal-SM-5EMM2 FSD1 79187 broad.mit.edu 37 19 4311908 4311908 + Missense_Mutation SNP G G A TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr19:4311908G>A ENST00000221856.6 + 7.0 707 c.560G>A c.(559-561)cGc>cAc p.R187H FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.R187H NM_024333.2 NP_077309.1 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 1 187.0 Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}. mitotic nuclear division (GO:0007067) cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634) p.R187L(1) breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21.0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGTGTGGCGCATGCCGGAT 0.642 1 Substitution - Missense(1) large_intestine(1) 138.0 104.0 116.0 19 4311908.0 2203.0 4300.0 6503.0 SO:0001583 missense AF316829 CCDS12127.1 19p13.3 2013-02-11 2005-03-01 ENSG00000105255 79187.0 79187.0 """Fibronectin type III domain containing""" 13745.0 protein-coding gene gene with protein product 609828 """fibronectin type 3 and SPRY domain containing 1""" 11267680 Standard NM_024333 NM_024333 Approved MGC3213, MIR1 uc002lzy.2 Q9BTV5 ENST00000221856.6:c.560G>A 19.__UNKNOWN__:g.4311908G>A ENSP00000221856:p.Arg187His B2RDT0|Q9BXN0|Q9HAG4 __UNKNOWN__ CCDS12127.1 . . . . . . . . . . G 13.93 2.383445 0.42207 . . ENSG00000105255 ENST00000221856 T 0.57436 0.4 5.33 3.2 0.36748 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.213055 0.39615 N 0.001304 T 0.48696 0.1514 M 0.71036 2.16 0.23809 N 0.996783 B 0.12013 0.005 B 0.20955 0.032 T 0.43163 -0.9408 10 0.38643 T 0.18 . 8.4299 0.32750 0.193:0.0:0.807:0.0 . 187 Q9BTV5 FSD1_HUMAN H 187 ENSP00000221856:R187H ENSP00000221856:R187H R + 2 0 FSD1 4262908 1.000000 0.71417 1.000000 0.80357 0.599000 0.36880 1.801000 0.38843 1.218000 0.43458 0.561000 0.74099 CGC FSD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000458091.1 + ENST00000221856.6 Missense_Mutation SNP PCPG-TCGA-SP-A6QI-Normal-SM-5EMM2 MED13L 23389 broad.mit.edu 37 12 116413346 116413346 + Silent SNP G G A rs139063441 TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr12:116413346G>A ENST00000281928.3 - 24.0 5768 c.5562C>T c.(5560-5562)tgC>tgT p.C1854C NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1854.0 mediator complex (GO:0016592) RNA polymerase II transcription cofactor activity (GO:0001104) 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) 85.0 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TATTTACAACGCAGGTCTCTA 0.418 0 G 1,4405 2.1+/-5.4 0,1,2202 66.0 63.0 64.0 5562 1.8 1.0 12 dbSNP_134 64.0 0,8600 0,0,4300 no coding-synonymous MED13L NM_015335.4 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 1854/2211 116413346.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB028948 CCDS9177.1 12q24.22 2010-07-29 2007-07-30 2007-07-30 ENSG00000123066 ENSG00000123066 23389.0 23389.0 22962.0 protein-coding gene gene with protein product 608771 """thyroid hormone receptor associated protein 2""" THRAP2 Standard NM_015335 Approved KIAA1025, TRAP240L uc001tvw.3 Q71F56 OTTHUMG00000169404 ENST00000281928.3:c.5562C>T 12.__UNKNOWN__:g.116413346G>A A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5 __UNKNOWN__ CCDS9177.1 . . . . . . . . . . G 9.749 1.166886 0.21621 2.27E-4 0.0 ENSG00000123066 ENST00000552447 . . . 5.86 1.81 0.25067 . . . . . T 0.58850 0.2151 . . . 0.80722 D 1 . . . . . . T 0.51545 -0.8692 4 . . . . 10.2501 0.43364 0.37:0.0:0.63:0.0 . . . . C 47 . . R - 1 0 MED13L 114897729 1.000000 0.71417 0.969000 0.41365 0.995000 0.86356 1.519000 0.35888 0.112000 0.17975 0.650000 0.86243 CGT MED13L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403879.3 - ENST00000281928.3 Silent SNP PCPG-TCGA-SP-A6QI-Normal-SM-5EMM2 SLC7A5 8140 broad.mit.edu 37 16 87866625 87866625 + Missense_Mutation SNP G G A rs144253961 TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr16:87866625G>A ENST00000261622.4 - 10.0 1540 c.1475C>T c.(1474-1476)aCg>aTg p.T492M SLC7A5_ENST00000565644.1_Missense_Mutation_p.T226M NM_003486.5 NP_003477.4 Q01650 LAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 5 492.0 amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605) endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 10.0 BRCA - Breast invasive adenocarcinoma(80;0.049) Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042) CAGGACGGTCGTGGAGACTGT 0.647 0 A MET/THR 1,4395 2.1+/-5.4 0,1,2197 134.0 141.0 138.0 1475 -0.1 0.0 16 dbSNP_134 138.0 0,8600 0,0,4300 no missense SLC7A5 NM_003486.5 81 0,1,6497 AA,AG,GG 0.0,0.0227,0.0077 benign 492/508 87866625.0 1,12995 2198.0 4300.0 6498.0 SO:0001583 missense AF077866 CCDS10964.1 16q24.3 2013-05-22 2011-07-12 ENSG00000103257 ENSG00000103257 8140.0 8140.0 """CD molecules"", ""Solute carriers""" 11063.0 protein-coding gene gene with protein product 600182 9751058, 7829099 Standard NM_003486 XM_006721286 Approved LAT1, E16, D16S469E, MPE16, CD98 uc002fkm.3 Q01650 OTTHUMG00000137658 ENST00000261622.4:c.1475C>T 16.__UNKNOWN__:g.87866625G>A ENSP00000261622:p.Thr492Met Q8IV97|Q9UBN8|Q9UP15|Q9UQC0 __UNKNOWN__ CCDS10964.1 . . . . . . . . . . g 1.003 -0.690416 0.03303 2.27E-4 0.0 ENSG00000103257 ENST00000261622 D 0.90900 -2.75 5.2 -0.137 0.13469 . 0.773297 0.11727 N 0.535269 T 0.71264 0.3319 N 0.01048 -1.04 0.09310 N 1 B 0.16166 0.016 B 0.12156 0.007 T 0.62450 -0.6852 10 0.34782 T 0.22 . 7.9718 0.30132 0.4249:0.0:0.5751:0.0 . 492 Q01650 LAT1_HUMAN M 492 ENSP00000261622:T492M ENSP00000261622:T492M T - 2 0 SLC7A5 86424126 0.001000 0.12720 0.000000 0.03702 0.001000 0.01503 0.719000 0.25881 -0.018000 0.14079 -1.212000 0.01626 ACG SLC7A5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269110.2 - ENST00000261622.4 Missense_Mutation SNP PCPG-TCGA-SP-A6QI-Normal-SM-5EMM2 OGDHL 55753 broad.mit.edu 37 10 50946031 50946031 + Missense_Mutation SNP C C T TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr10:50946031C>T ENST00000374103.4 - 19.0 2564 c.2479G>A c.(2479-2481)Gtg>Atg p.V827M OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.V770M|OGDHL_ENST00000432695.1_Missense_Mutation_p.V618M NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 827.0 glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099) mitochondrion (GO:0005739) metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976) 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) 61.0 CGGCGCAGCACGTGGAAGTAG 0.652 0 196.0 186.0 189.0 10 50946031.0 2203.0 4300.0 6503.0 SO:0001583 missense AK001713 CCDS7234.1, CCDS44390.1, CCDS44391.1 10q11.23 2013-09-20 ENSG00000197444 ENSG00000197444 55753.0 55753.0 25590.0 protein-coding gene gene with protein product 10574462 Standard NM_018245 NM_018245 Approved FLJ10851 uc001jie.3 Q9ULD0 OTTHUMG00000018200 ENST00000374103.4:c.2479G>A 10.__UNKNOWN__:g.50946031C>T ENSP00000363216:p.Val827Met A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0 __UNKNOWN__ CCDS7234.1 . . . . . . . . . . C 18.28 3.588378 0.66105 . . ENSG00000197444 ENST00000374103;ENST00000419399;ENST00000432695 D;D;D 0.91577 -2.87;-2.87;-2.87 4.84 4.84 0.62591 Transketolase-like, pyrimidine-binding domain (2); 0.000000 0.85682 D 0.000000 D 0.87026 0.6075 L 0.35542 1.07 0.80722 D 1 P;P;P 0.40619 0.677;0.677;0.724 B;B;B 0.39068 0.092;0.143;0.289 D 0.89078 0.3474 10 0.87932 D 0 . 17.9498 0.89048 0.0:1.0:0.0:0.0 . 770;618;827 Q9ULD0-2;Q9ULD0-3;Q9ULD0 .;.;OGDHL_HUMAN M 827;770;618 ENSP00000363216:V827M;ENSP00000401356:V770M;ENSP00000390240:V618M ENSP00000363216:V827M V - 1 0 OGDHL 50616037 0.999000 0.42202 0.999000 0.59377 0.997000 0.91878 4.072000 0.57563 2.222000 0.72286 0.650000 0.86243 GTG OGDHL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048007.1 - ENST00000374103.4 Missense_Mutation SNP PCPG-TCGA-SP-A6QI-Normal-SM-5EMM2 C6orf211 79624 broad.mit.edu 37 6 151790032 151790032 + Silent SNP G G A TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr6:151790032G>A ENST00000367294.3 + 5.0 1372 c.1113G>A c.(1111-1113)agG>agA p.R371R C6orf211_ENST00000545879.1_Silent_p.R252R NM_024573.1 NP_078849.1 Q9H993 CF211_HUMAN chromosome 6 open reading frame 211 371.0 breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7) 15.0 BRCA - Breast invasive adenocarcinoma(37;0.183) OV - Ovarian serous cystadenocarcinoma(155;5.27e-11) TGAATTACAGGAAGTTGACAG 0.413 0 76.0 80.0 78.0 6 151790032.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AJ420548 CCDS5233.1, CCDS69224.1 6q25.1 2013-01-07 ENSG00000146476 ENSG00000146476 79624.0 79624.0 17872.0 protein-coding gene gene with protein product Standard NM_024573 NM_001286562 Approved FLJ12910 uc003qok.1 Q9H993 OTTHUMG00000015838 ENST00000367294.3:c.1113G>A 6.__UNKNOWN__:g.151790032G>A Q96FC6|Q9UFY5 __UNKNOWN__ CCDS5233.1 C6orf211-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042724.1 + ENST00000367294.3 Silent SNP PCPG-TCGA-SP-A6QI-Normal-SM-5EMM2 PREB 10113 broad.mit.edu 37 2 27355237 27355237 + Nonsense_Mutation SNP G G A TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr2:27355237G>A ENST00000260643.2 - 6.0 1040 c.787C>T c.(787-789)Cga>Tga p.R263* PREB_ENST00000406567.3_Intron NM_013388.4 NP_037520.1 Q9HCU5 PREB_HUMAN prolactin regulatory element binding 263.0 activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634) DNA binding (GO:0003677) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 14.0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGAAGAGTCGCAGGCCAGCA 0.627 0 32.0 39.0 37.0 2 27355237.0 2200.0 4297.0 6497.0 SO:0001587 stop_gained CCDS1738.1 2p23 2013-01-10 ENSG00000138073 ENSG00000138073 10113.0 10113.0 """WD repeat domain containing""" 9356.0 protein-coding gene gene with protein product 606395 10194769, 12735795 Standard NM_013388 NM_013388 Approved SEC12 uc002rix.1 Q9HCU5 OTTHUMG00000097076 ENST00000260643.2:c.787C>T 2.__UNKNOWN__:g.27355237G>A ENSP00000260643:p.Arg263* Q53SZ8|Q9UH94 __UNKNOWN__ CCDS1738.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 26.5|26.5 4.740606|4.740606 0.89573|0.89573 .|. .|. ENSG00000138073|ENSG00000138073 ENST00000456259;ENST00000430533|ENST00000260643;ENST00000546336 .|. .|. .|. 5.97|5.97 5.08|5.08 0.68730|0.68730 .|. .|0.000000 .|0.85682 .|D .|0.000000 T|. 0.34077|. 0.0885|. .|. .|. .|. 0.80722|0.80722 A|A 1|1 .|. .|. .|. .|. .|. .|. T|. 0.43861|. -0.9365|. 3|. .|0.13108 .|T .|0.6 -9.3881|-9.3881 7.7354|7.7354 0.28810|0.28810 0.0807:0.0:0.7553:0.1639|0.0807:0.0:0.7553:0.1639 .|. .|. .|. .|. V|X 6;18|263 .|. .|ENSP00000260643:R263X A|R -|- 2|1 0|2 PREB|PREB 27208741|27208741 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.966000|0.966000 0.64601|0.64601 3.755000|3.755000 0.55197|0.55197 1.494000|1.494000 0.48533|0.48533 0.655000|0.655000 0.94253|0.94253 GCG|CGA PREB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214195.1 - ENST00000260643.2 Nonsense_Mutation SNP PCPG-TCGA-SP-A6QI-Normal-SM-5EMM2 TBXA2R 0 broad.mit.edu 37 19 3600626 3600626 + Missense_Mutation SNP G G A TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr19:3600626G>A ENST00000375190.4 - 2.0 400 c.7C>T c.(7-9)Ccc>Tcc p.P3S TBXA2R_ENST00000589966.1_Missense_Mutation_p.P3S|TBXA2R_ENST00000411851.3_Missense_Mutation_p.P3S NM_001060.5|NM_201636.2 NP_001051.1|NP_963998.2 P21731 TA2R_HUMAN thromboxane A2 receptor 3.0 blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193) acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961) kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 8.0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) CTGCCGTTGGGCCACATGGCT 0.657 0 13.0 14.0 14.0 19 3600626.0 2012.0 4097.0 6109.0 SO:0001583 missense CCDS42467.1, CCDS54198.1 19p13.3 2014-09-17 6915.0 """GPCR / Class A : Prostanoid receptors""" 11608.0 protein-coding gene gene with protein product 188070 1825698 Standard NM_001060 Approved uc021umv.1 P21731 ENST00000375190.4:c.7C>T 19.__UNKNOWN__:g.3600626G>A ENSP00000364336:p.Pro3Ser O75228|Q6DK52|Q9UCY1|Q9UCY2 __UNKNOWN__ CCDS42467.1 . . . . . . . . . . G 11.62 1.693601 0.30052 . . ENSG00000006638 ENST00000411851;ENST00000375190 T;T 0.38077 1.44;1.16 4.77 -4.39 0.03611 . 1.559050 0.04106 U 0.313694 T 0.15782 0.0380 N 0.08118 0 0.27040 N 0.964027 B;B 0.18461 0.003;0.028 B;B 0.13407 0.001;0.009 T 0.17501 -1.0367 10 0.52906 T 0.07 -25.5092 1.2785 0.02036 0.2749:0.2587:0.3351:0.1312 . 3;3 P21731;E2QRJ2 TA2R_HUMAN;. S 3 ENSP00000393333:P3S;ENSP00000364336:P3S ENSP00000364336:P3S P - 1 0 TBXA2R 3551626 0.059000 0.20769 0.930000 0.37139 0.104000 0.19210 -0.844000 0.04345 -0.410000 0.07542 -0.389000 0.06534 CCC TBXA2R-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000453081.2 - ENST00000375190.4 Missense_Mutation SNP PCPG-TCGA-SP-A6QI-Normal-SM-5EMM2 HAPLN2 60484 broad.mit.edu 37 1 156593628 156593628 + Frame_Shift_Del DEL C C - TCGA-SP-A6QI-01A-12D-A35I-08 TCGA-SP-A6QI-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94725038-c898-4b46-9824-db0017cb2bf3 9fc1e083-c82d-4fda-96e7-7374254e8d0c g.chr1:156593628delC ENST00000255039.1 + 4.0 522 c.115delC c.(115-117)cccfs p.P40fs NM_021817.2 NP_068589.1 Q9GZV7 HPLN2_HUMAN hyaluronan and proteoglycan link protein 2 40.0 Ig-like V-type. cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029) proteinaceous extracellular matrix (GO:0005578) hyaluronic acid binding (GO:0005540) NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 7.0 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTACCTCCTGCCCCCCATCCA 0.677 0 9.0 10.0 9.0 1 156593628.0 2076.0 4093.0 6169.0 SO:0001589 frameshift_variant AB049054 CCDS1148.1 1q23.1 2013-01-11 ENSG00000132702 ENSG00000132702 60484.0 60484.0 """Immunoglobulin superfamily / V-set domain containing""" 17410.0 protein-coding gene gene with protein product """brain link protein 1""" 11027579, 11873941 Standard NM_021817 NM_021817 Approved BRAL1 uc001fpn.1 Q9GZV7 OTTHUMG00000033205 ENST00000255039.1:c.115delC 1.__UNKNOWN__:g.156593628delC ENSP00000255039:p.Pro40fs Q5T3J0 __UNKNOWN__ CCDS1148.1 HAPLN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000081039.1 + ENST00000255039.1 Frame_Shift_Del DEL PCPG-TCGA-SP-A6QI-Normal-SM-5EMM2 CEACAM5 1048 broad.mit.edu 37 19 42231224 42231224 + Silent SNP T T G TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chr19:42231224T>G ENST00000398599.4 + 9.0 2241 c.2094T>G c.(2092-2094)gtT>gtG p.V698V CEACAM5_ENST00000221992.6_Silent_p.V699V|CEACAM5_ENST00000405816.1_Silent_p.V699V|CEA_ENST00000598976.1_Intron P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 699.0 homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832) anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887) GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803) breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34.0 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TGGTTGGGGTTGCTCTGATAT 0.498 0 317.0 303.0 308.0 19 42231224.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant M17303 CCDS12584.1 19q13.1-q13.2 2013-01-29 ENSG00000105388 ENSG00000105388 1048.0 1048.0 """CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 1817.0 protein-coding gene gene with protein product 114890 CEA Standard NM_004363 XM_005258413 Approved CD66e uc002orl.3 P06731 OTTHUMG00000151061 ENST00000398599.4:c.2094T>G 19.__UNKNOWN__:g.42231224T>G H9KVA7 __UNKNOWN__ . . . . . . . . . . T 1.178 -0.639098 0.03557 . . ENSG00000105388 ENST00000398599 . . . 1.98 -2.17 0.07059 . . . . . T 0.20536 0.0494 . . . 0.09310 N 1 . . . . . . T 0.26849 -1.0091 4 . . . . 3.0437 0.06146 0.1591:0.0:0.3683:0.4726 . . . . G 695 . . C + 1 0 CEACAM5 46923064 0.000000 0.05858 0.002000 0.10522 0.006000 0.05464 -0.493000 0.06459 -0.398000 0.07679 -0.659000 0.03860 TGC CEACAM5-002 NOVEL basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000321133.2 + ENST00000398599.4 Silent SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 HUWE1 10075 broad.mit.edu 37 X 53602646 53602646 + Missense_Mutation SNP C C A TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chrX:53602646C>A ENST00000342160.3 - 44.0 6444 c.5987G>T c.(5986-5988)cGt>cTt p.R1996L HUWE1_ENST00000262854.6_Missense_Mutation_p.R1996L Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1996.0 base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634) DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842) 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) 153.0 ACTGCTCTGACGCGTAAGTGA 0.443 0 120.0 93.0 102.0 X 53602646.0 2203.0 4300.0 6503.0 SO:0001583 missense AB071605 CCDS35301.1 Xp11.22 2014-06-09 2012-02-23 ENSG00000086758 ENSG00000086758 10075.0 10075.0 30892.0 protein-coding gene gene with protein product 300697 """HECT, UBA and WWE domain containing 1""" 9205841, 10998601 Standard XM_497119 NM_031407 Approved Ib772, KIAA0312, UREB1 uc004dsp.4 Q7Z6Z7 OTTHUMG00000021617 ENST00000342160.3:c.5987G>T X.__UNKNOWN__:g.53602646C>A ENSP00000340648:p.Arg1996Leu O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9 __UNKNOWN__ CCDS35301.1 . . . . . . . . . . C 18.30 3.592679 0.66219 . . ENSG00000086758 ENST00000342160;ENST00000262854 T;T 0.38887 1.11;1.11 5.43 5.43 0.79202 . 0.335242 0.26851 N 0.022163 T 0.44414 0.1292 N 0.24115 0.695 0.52501 D 0.999953 D;D 0.57899 0.967;0.981 P;P 0.55112 0.592;0.769 T 0.27226 -1.0080 10 0.30854 T 0.27 . 17.0172 0.86422 0.0:1.0:0.0:0.0 . 1996;1996 Q7Z6Z7;Q7Z6Z7-2 HUWE1_HUMAN;. L 1996 ENSP00000340648:R1996L;ENSP00000262854:R1996L ENSP00000262854:R1996L R - 2 0 HUWE1 53619371 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 5.614000 0.67695 2.281000 0.76405 0.600000 0.82982 CGT HUWE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056766.1 - ENST00000342160.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 TRAV3 0 broad.mit.edu 37 14 22192478 22192478 + RNA SNP G G A TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chr14:22192478G>A ENST00000390425.2 + 0.0 429 T cell receptor alpha variable 3 (gene/pseudogene) CTTTGAAGCTGAATTTAACAA 0.463 0 71.0 73.0 73.0 14 22192478.0 2073.0 4191.0 6264.0 AE000658 14q11.2 2012-02-07 2008-09-12 ENSG00000211777 ENSG00000211777 28690.0 28690.0 """T cell receptors / TRA locus""" 12128.0 other T cell receptor gene """T cell receptor alpha variable 3""" 8188290 Standard NG_001332 NG_001332 Approved OTTHUMG00000168981 ENST00000390425.2: 14.__UNKNOWN__:g.22192478G>A __UNKNOWN__ TRAV3-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene TR_V_gene OTTHUMT00000401876.1 + ENST00000390425.2 RNA SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 PDLIM5 10611 broad.mit.edu 37 4 95376476 95376476 + Missense_Mutation SNP C C T TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chr4:95376476C>T ENST00000514743.1 + 1.0 81 c.37C>T c.(37-39)Cct>Tct p.P13S PDLIM5_ENST00000359265.4_Missense_Mutation_p.P13S|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000450793.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000508216.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000504489.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000318007.5_Missense_Mutation_p.P13S|PDLIM5_ENST00000317968.4_Missense_Mutation_p.P13S|PDLIM5_ENST00000380180.3_Missense_Mutation_p.P13S|PDLIM5_ENST00000538141.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000512274.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000437932.1_Missense_Mutation_p.P13S NM_001256426.1 NP_001243355 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 13.0 PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}. regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22.0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) TGGCCCAGCTCCTTGGGGTTT 0.408 0 65.0 64.0 65.0 4 95376476.0 2203.0 4300.0 6503.0 SO:0001583 missense AF061258 CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1 4q22 2006-04-12 ENSG00000163110 ENSG00000163110 10611.0 10611.0 17468.0 protein-coding gene gene with protein product 605904 15346770 Standard NM_006457 Approved LIM, Enh uc003htk.4 Q96HC4 OTTHUMG00000130973 ENST00000514743.1:c.37C>T 4.__UNKNOWN__:g.95376476C>T ENSP00000424360:p.Pro13Ser A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0 __UNKNOWN__ CCDS58916.1 . . . . . . . . . . C 33 5.232696 0.95207 . . ENSG00000163110 ENST00000359265;ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000512274;ENST00000503974;ENST00000504489;ENST00000508216;ENST00000514743 T;T;T;T;T;T;T;T;T;T;T;T 0.75589 -0.95;1.17;1.17;1.17;1.17;1.17;1.17;2.35;1.17;2.35;1.17;1.17 5.51 5.51 0.81932 PDZ/DHR/GLGF (4); 0.071660 0.56097 D 0.000033 D 0.85566 0.5726 M 0.66378 2.025 0.80722 D 1 D;D;P;D;D;D 0.89917 1.0;1.0;0.923;1.0;1.0;0.999 D;D;P;D;D;D 0.97110 0.999;0.999;0.755;1.0;0.996;0.998 D 0.86675 0.1913 10 0.87932 D 0 . 18.1706 0.89744 0.0:1.0:0.0:0.0 . 13;13;13;13;13;13 E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3 .;.;PDLI5_HUMAN;.;.;. S 13 ENSP00000352210:P13S;ENSP00000398469:P13S;ENSP00000369527:P13S;ENSP00000322021:P13S;ENSP00000401579:P13S;ENSP00000439795:P13S;ENSP00000321746:P13S;ENSP00000426379:P13S;ENSP00000424297:P13S;ENSP00000423009:P13S;ENSP00000426804:P13S;ENSP00000424360:P13S ENSP00000321746:P13S P + 1 0 PDLIM5 95595499 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.406000 0.80017 2.578000 0.87016 0.591000 0.81541 CCT PDLIM5-010 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000362993.1 + ENST00000514743.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 SKA3 221150 broad.mit.edu 37 13 21746483 21746483 + Missense_Mutation SNP T T G TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chr13:21746483T>G ENST00000400018.3 - 3.0 395 c.326A>C c.(325-327)aAt>aCt p.N109T SKA3_ENST00000314759.5_Missense_Mutation_p.N109T NM_001166017.1 NP_001159489.1 Q8IX90 SKA3_HUMAN spindle and kinetochore associated complex subunit 3 109.0 chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110) condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19.0 CAAACCTGAATTTTTCTTGAC 0.303 0 72.0 80.0 77.0 13 21746483.0 2202.0 4295.0 6497.0 SO:0001583 missense AF361358 CCDS31946.1, CCDS53856.1 13q11 2013-01-17 2009-08-19 2009-08-19 ENSG00000165480 ENSG00000165480 221150.0 221150.0 20262.0 protein-coding gene gene with protein product """chromosome 13 open reading frame 3""" C13orf3 19387489, 19289083, 19646878, 19360002 Standard NM_145061 NM_145061 Approved MGC4832, RAMA1 uc001unt.3 Q8IX90 OTTHUMG00000016539 ENST00000400018.3:c.326A>C 13.__UNKNOWN__:g.21746483T>G ENSP00000382896:p.Asn109Thr A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22 __UNKNOWN__ CCDS53856.1 . . . . . . . . . . T 12.26 1.884280 0.33255 . . ENSG00000165480 ENST00000314759;ENST00000400018 T;T 0.23147 1.92;1.92 5.52 3.08 0.35506 . 0.416974 0.27802 N 0.017797 T 0.19765 0.0475 L 0.53249 1.67 0.09310 N 1 P;B 0.38677 0.642;0.386 B;B 0.34242 0.178;0.178 T 0.18304 -1.0341 10 0.54805 T 0.06 -14.3663 4.8452 0.13510 0.0:0.1656:0.1579:0.6765 . 109;109 Q8IX90-3;Q8IX90 .;SKA3_HUMAN T 109 ENSP00000319417:N109T;ENSP00000382896:N109T ENSP00000319417:N109T N - 2 0 SKA3 20644483 0.058000 0.20735 0.715000 0.30552 0.918000 0.54935 0.436000 0.21526 0.386000 0.24997 0.482000 0.46254 AAT SKA3-006 KNOWN basic|appris_candidate|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000272913.1 - ENST00000400018.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chr11:533874T>C ENST00000451590.1 - 3.0 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R NM_001130442.1|NM_005343.2 NP_001123914.1|NP_005334.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61.0 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022) p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901.0 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6.0 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) yes Dom yes Costello syndrome 11 11p15.5 3265.0 v-Ha-ras Harvey rat sarcoma viral oncogene homolog """E, L, M""" 256 Substitution - Missense(256) skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1) 117.0 102.0 107.0 11 533874.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Facio-Cutaneous-Skeletal syndrome AJ437024 CCDS7698.1, CCDS7699.1 11p15.5 2014-09-17 2013-07-08 ENSG00000174775 ENSG00000174775 3265.0 3265.0 5173.0 protein-coding gene gene with protein product 190020 """v-Ha-ras Harvey rat sarcoma viral oncogene homolog""" HRAS1 Standard NM_176795 NM_176795 Approved uc010qvx.2 P01112 OTTHUMG00000131919 ENST00000451590.1:c.182A>G 11.__UNKNOWN__:g.533874T>C ENSP00000407586:p.Gln61Arg B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2 __UNKNOWN__ CCDS7698.1 . . . . . . . . . . T 14.48 2.546606 0.45383 . . ENSG00000174775 ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189 D;D;D;D;D 0.83673 -1.75;-1.75;-1.75;-1.75;-1.75 3.64 3.64 0.41730 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85613 0.5737 M 0.90870 3.155 0.80722 D 1 B;B 0.21071 0.051;0.008 B;B 0.22152 0.022;0.038 D 0.85970 0.1476 10 0.66056 D 0.02 . 11.8872 0.52608 0.0:0.0:0.0:1.0 . 61;61 P01112-2;P01112 .;RASH_HUMAN R 61 ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R ENSP00000309845:Q61R Q - 2 0 HRAS 523874 1.000000 0.71417 0.985000 0.45067 0.482000 0.33219 7.727000 0.84838 1.662000 0.50781 0.459000 0.35465 CAG HRAS-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259403.2 - ENST00000451590.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 CHSY3 337876 broad.mit.edu 37 5 129520747 129520747 + Missense_Mutation SNP A A G TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chr5:129520747A>G ENST00000305031.4 + 3.0 2270 c.1912A>G c.(1912-1914)Atg>Gtg p.M638V NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 638.0 carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281) Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28.0 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) CTTGAGATTCATGGAGAACTT 0.398 0 79.0 81.0 80.0 5 129520747.0 2203.0 4300.0 6503.0 SO:0001583 missense AB086062 CCDS34223.1 5q13 2013-02-19 ENSG00000198108 ENSG00000198108 337876.0 337876.0 2.4.1.175, 2.4.1.226 """Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases""" 24293.0 protein-coding gene gene with protein product 609963 12907687 Standard NM_175856 XM_005271982 Approved CSS3, CHSY-2 uc003kvd.3 Q70JA7 OTTHUMG00000163043 ENST00000305031.4:c.1912A>G 5.__UNKNOWN__:g.129520747A>G ENSP00000302629:p.Met638Val B2RP97|Q76L22|Q86Y52 __UNKNOWN__ CCDS34223.1 . . . . . . . . . . A 16.32 3.090394 0.55968 . . ENSG00000198108 ENST00000305031 T 0.29142 1.58 4.12 4.12 0.48240 . 0.000000 0.64402 D 0.000002 T 0.44201 0.1282 M 0.65975 2.015 0.54753 D 0.999989 P 0.46064 0.872 P 0.52031 0.688 T 0.38478 -0.9659 9 . . . -7.4609 14.1845 0.65595 1.0:0.0:0.0:0.0 . 638 Q70JA7 CHSS3_HUMAN V 638 ENSP00000302629:M638V . M + 1 0 CHSY3 129548646 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.261000 0.78400 2.069000 0.61940 0.528000 0.53228 ATG CHSY3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000371453.1 + ENST00000305031.4 Missense_Mutation SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 CACNA1F 778 broad.mit.edu 37 X 49062200 49062200 + Missense_Mutation SNP G G A rs2856748 TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chrX:49062200G>A ENST00000376265.2 - 47.0 5640 c.5579C>T c.(5578-5580)gCg>gTg p.A1860V CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1849V|CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1795V NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1860.0 A -> G (in Ref. 6; AAB92359). {ECO:0000305}. axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891) high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) p.A1860V(1) 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) 85.0 Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661) CCCCTCCCCCGCTGCGCCCTC 0.652 1 Substitution - Missense(1) endometrium(1) 33.0 26.0 29.0 X 49062200.0 2201.0 4297.0 6498.0 SO:0001583 missense AA019975 CCDS35253.1, CCDS59166.1, CCDS59167.1 Xp11.23 2013-01-23 2007-02-16 ENSG00000102001 ENSG00000102001 778.0 778.0 """Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels""" 1393.0 protein-coding gene gene with protein product 300110 """Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)""" CSNB2, AIED 9344658, 9662400, 16382099, 12111638, 17525176 Standard NM_005183 NM_005183 Approved Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2 uc010nip.3 O60840 OTTHUMG00000022703 ENST00000376265.2:c.5579C>T X.__UNKNOWN__:g.49062200G>A ENSP00000365441:p.Ala1860Val A6NI29|F5CIQ9|O43901|O95226|Q9UHB1 __UNKNOWN__ CCDS35253.1 . . . . . . . . . . G 7.341 0.620930 0.14193 . . ENSG00000102001 ENST00000376251;ENST00000323022;ENST00000376265 T;T;T 0.61859 0.07;0.07;0.07 5.38 3.58 0.41010 . 1.373100 0.04548 N 0.389265 T 0.47764 0.1463 L 0.31065 0.9 0.23851 N 0.996662 B;B 0.13145 0.007;0.004 B;B 0.06405 0.002;0.001 T 0.30592 -0.9973 10 0.25106 T 0.35 . 9.5549 0.39332 0.1807:0.0:0.8193:0.0 . 1849;1860 F5CIQ9;O60840 .;CAC1F_HUMAN V 1795;1849;1860 ENSP00000365427:A1795V;ENSP00000321618:A1849V;ENSP00000365441:A1860V ENSP00000321618:A1849V A - 2 0 CACNA1F 48949144 0.071000 0.21146 0.075000 0.20258 0.095000 0.18619 0.909000 0.28558 0.535000 0.28714 0.594000 0.82650 GCG CACNA1F-007 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000358157.1 - ENST00000376265.2 Missense_Mutation SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 TOR3A 64222 broad.mit.edu 37 1 179064186 179064186 + Missense_Mutation SNP G G A TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chr1:179064186G>A ENST00000367627.3 + 6.0 1779 c.1027G>A c.(1027-1029)Gtg>Atg p.V343M TOR3A_ENST00000352445.6_Intron NM_022371.3 NP_071766.2 Q9H497 TOR3A_HUMAN torsin family 3, member A 343.0 ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|ATPase activity (GO:0016887) endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1) 13.0 GTACCGTCACGTGAGGCTGTG 0.507 0 198.0 172.0 181.0 1 179064186.0 2203.0 4300.0 6503.0 SO:0001583 missense BC001085 CCDS1329.1 1q25.2 2008-02-05 2003-04-02 ENSG00000186283 ENSG00000186283 64222.0 64222.0 11997.0 protein-coding gene gene with protein product 607555 """ATP-dependant interferon responsive""" ADIR 10644435 Standard NM_022371 NM_022371 Approved FLJ22345, ADIR2 uc001gmd.3 Q9H497 OTTHUMG00000035077 ENST00000367627.3:c.1027G>A 1.__UNKNOWN__:g.179064186G>A ENSP00000356599:p.Val343Met B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7 __UNKNOWN__ CCDS1329.1 . . . . . . . . . . G 25.0 4.588928 0.86851 . . ENSG00000186283 ENST00000367627 T 0.29917 1.55 5.69 4.76 0.60689 . 0.060704 0.64402 D 0.000003 T 0.61986 0.2391 M 0.91920 3.255 0.80722 D 1 D 0.89917 1.0 D 0.71184 0.972 T 0.69953 -0.5005 10 0.66056 D 0.02 -37.8626 14.0444 0.64695 0.0733:0.0:0.9267:0.0 . 343 Q9H497 TOR3A_HUMAN M 343 ENSP00000356599:V343M ENSP00000356599:V343M V + 1 0 TOR3A 177330809 1.000000 0.71417 0.984000 0.44739 0.837000 0.47467 6.423000 0.73361 2.676000 0.91093 0.655000 0.94253 GTG TOR3A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000084927.1 + ENST00000367627.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 ERCC6L2 375748 broad.mit.edu 37 9 98643154 98643154 + Missense_Mutation SNP T T C TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chr9:98643154T>C ENST00000288985.7 + 2.0 388 c.83T>C c.(82-84)aTa>aCa p.I28T ERCC6L2_ENST00000466840.1_3'UTR NM_001010895.2 NP_001010895.1 Q5T890 ER6L2_HUMAN excision repair cross-complementation group 6-like 2 28.0 DNA repair (GO:0006281) cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677) CTTGCAGACATATGGCATCCA 0.353 0 48.0 49.0 49.0 9 98643154.0 2203.0 4299.0 6502.0 SO:0001583 missense BC022957 CCDS35072.1 9q22.32 2014-03-07 2014-03-07 2012-03-30 ENSG00000182150 ENSG00000182150 375748.0 375748.0 26922.0 protein-coding gene gene with protein product 615667 """chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2""" C9orf102 Standard NM_001010895 NM_001010895 Approved FLJ37706, RAD26L uc004avt.4 Q5T890 OTTHUMG00000020289 ENST00000288985.7:c.83T>C 9.__UNKNOWN__:g.98643154T>C ENSP00000288985:p.Ile28Thr A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7 __UNKNOWN__ CCDS35072.1 . . . . . . . . . . T 13.40 2.224875 0.39300 . . ENSG00000182150 ENST00000288985 D 0.89415 -2.51 4.75 -3.33 0.04958 . 1.213320 0.06230 N 0.688526 T 0.80706 0.4674 L 0.36672 1.1 0.09310 N 1 B 0.09022 0.002 B 0.06405 0.002 T 0.62459 -0.6850 10 0.13470 T 0.59 0.068 8.862 0.35263 0.1129:0.0:0.3252:0.5619 . 28 Q5T890 RAD26_HUMAN T 28 ENSP00000288985:I28T ENSP00000288985:I28T I + 2 0 C9orf102 97682975 0.000000 0.05858 0.081000 0.20488 0.945000 0.59286 -1.231000 0.02939 -0.421000 0.07416 -0.452000 0.05504 ATA ERCC6L2-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000053247.2 + ENST00000288985.7 Missense_Mutation SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 H1FNT 341567 broad.mit.edu 37 12 48723377 48723377 + Missense_Mutation SNP G G T TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chr12:48723377G>T ENST00000335017.1 + 1.0 615 c.303G>T c.(301-303)agG>agT p.R101S NM_181788.1 NP_861453.1 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 101.0 chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290) nuclear chromatin (GO:0000790)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677) endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 13.0 AAGCGCCCAGGGGGCAGGCCA 0.672 0 15.0 19.0 18.0 12 48723377.0 2199.0 4290.0 6489.0 SO:0001583 missense AY302593 CCDS8762.1 12q13.11 2011-01-27 ENSG00000187166 341567.0 341567.0 """Histones / Replication-independent""" 24893.0 protein-coding gene gene with protein product 15710904 Standard NM_181788 NM_181788 Approved HANP1, H1T2 uc001rrm.3 Q75WM6 ENST00000335017.1:c.303G>T 12.__UNKNOWN__:g.48723377G>T ENSP00000334805:p.Arg101Ser Q147U8|Q5GKZ5|Q7Z694 __UNKNOWN__ CCDS8762.1 . . . . . . . . . . G 11.46 1.645585 0.29246 . . ENSG00000187166 ENST00000335017 T 0.18338 2.22 5.13 0.907 0.19321 . . . . . T 0.09468 0.0233 L 0.29908 0.895 0.09310 N 1 B 0.29341 0.242 B 0.21917 0.037 T 0.37731 -0.9693 9 0.18710 T 0.47 0.0586 5.0714 0.14609 0.1503:0.1175:0.6119:0.1202 . 101 Q75WM6 H1FNT_HUMAN S 101 ENSP00000334805:R101S ENSP00000334805:R101S R + 3 2 H1FNT 47009644 0.003000 0.15002 0.000000 0.03702 0.000000 0.00434 1.442000 0.35046 -0.042000 0.13535 -0.813000 0.03139 AGG H1FNT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406516.1 + ENST00000335017.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 TTN 7273 broad.mit.edu 37 2 179650740 179650740 + Silent SNP G G A TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chr2:179650740G>A ENST00000589042.1 - 14.0 2429 c.2205C>T c.(2203-2205)taC>taT p.Y735Y TTN_ENST00000360870.5_Silent_p.Y735Y|TTN_ENST00000342992.6_Silent_p.Y735Y|TTN_ENST00000359218.5_Silent_p.Y689Y|TTN_ENST00000460472.2_Silent_p.Y689Y|TTN_ENST00000342175.6_Silent_p.Y689Y|TTN_ENST00000591111.1_Silent_p.Y735Y NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 735.0 adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) 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) 1448.0 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTTATATCCGTACTCCAAAG 0.537 0 93.0 87.0 89.0 2 179650740.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273.0 7273.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403.0 protein-coding gene gene with protein product 188840 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_133378 NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.2205C>T 2.__UNKNOWN__:g.179650740G>A A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 __UNKNOWN__ CCDS59435.1 TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 - ENST00000589042.1 Silent SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 AHNAK 79026 broad.mit.edu 37 11 62294307 62294307 + Missense_Mutation SNP G G A rs151063380 TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chr11:62294307G>A ENST00000378024.4 - 5.0 7856 c.7582C>T c.(7582-7584)Cct>Tct p.P2528S AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2528.0 protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385) actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982) poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493) 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) 268.0 Melanoma(852;0.155) TCTACTTCAGGGCCCTCTGCT 0.507 0 G SER/PRO, 0,4404 0,0,2202 160.0 159.0 159.0 7582, 3.1 0.0 11 dbSNP_134 159.0 1,8597 1.2+/-3.3 0,1,4298 no missense,intron AHNAK NM_001620.1,NM_024060.2 74, 0,1,6500 AA,AG,GG 0.0116,0.0,0.0077 benign, 2528/5891, 62294307.0 1,13001 2202.0 4299.0 6501.0 SO:0001583 missense M80899 CCDS31584.1, CCDS44625.1 11q12-q13 2008-02-05 2007-03-30 ENSG00000124942 ENSG00000124942 79026.0 79026.0 347.0 protein-coding gene gene with protein product """desmoyokin""" 103390 """AHNAK nucleoprotein (desmoyokin)""" 7987395, 12153988 Standard NM_024060 NM_024060 Approved MGC5395 uc001ntl.3 Q09666 OTTHUMG00000167558 ENST00000378024.4:c.7582C>T 11.__UNKNOWN__:g.62294307G>A ENSP00000367263:p.Pro2528Ser A1A586 __UNKNOWN__ CCDS31584.1 . . . . . . . . . . g 8.684 0.905828 0.17760 0.0 1.16E-4 ENSG00000124942 ENST00000244934;ENST00000378024 T 0.05649 3.41 3.99 3.06 0.35304 . . . . . T 0.13157 0.0319 M 0.90252 3.1 0.29099 N 0.881583 B 0.25312 0.123 B 0.24974 0.057 T 0.05582 -1.0876 9 0.54805 T 0.06 . 7.1759 0.25744 0.0906:0.0:0.7427:0.1667 . 2528 Q09666 AHNK_HUMAN S 617;2528 ENSP00000367263:P2528S ENSP00000244934:P617S P - 1 0 AHNAK 62050883 0.914000 0.31030 0.042000 0.18584 0.008000 0.06430 1.636000 0.37144 0.810000 0.34279 0.298000 0.19748 CCT AHNAK-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000395572.1 - ENST00000378024.4 Missense_Mutation SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 ARNT 0 broad.mit.edu 37 1 150814926 150814930 + Frame_Shift_Del DEL GCTCT GCTCT - TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chr1:150814926_150814930delGCTCT ENST00000354396.2 - 5.0 253_257 c.242_246delAGAGC c.(241-246)cagagcfs p.QS81fs ARNT_ENST00000505755.1_Intron|ARNT_ENST00000515192.1_Frame_Shift_Del_p.QS72fs|ARNT_ENST00000358595.5_Frame_Shift_Del_p.QS81fs P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 81.0 cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34.0 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TATCCGCAGAGCTCTGCTCATCATC 0.39 T ETV6 AML Dom yes 1 1q21 405.0 aryl hydrocarbon receptor nuclear translocator L 0 SO:0001589 frameshift_variant AF001307 CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1 1q21 2013-05-21 ENSG00000143437 ENSG00000143437 405.0 """Basic helix-loop-helix proteins""" 700.0 protein-coding gene gene with protein product 126110 Standard NM_001668 Approved HIF-1beta, bHLHe2 uc001evr.2 P27540 OTTHUMG00000035011 ENST00000354396.2:c.242_246delAGAGC 1.__UNKNOWN__:g.150814926_150814930delGCTCT ENSP00000346372:p.Gln81fs B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7 __UNKNOWN__ ARNT-010 NOVEL basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000360630.1 - ENST00000354396.2 Frame_Shift_Del DEL PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 FLNB 2317 broad.mit.edu 37 3 58104625 58104625 + Frame_Shift_Del DEL C C - TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chr3:58104625delC ENST00000490882.1 + 19.0 2937 c.2772delC c.(2770-2772)tacfs p.Y924fs FLNB_ENST00000358537.3_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000357272.4_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000419752.2_Frame_Shift_Del_p.Y755fs|FLNB_ENST00000493452.1_Frame_Shift_Del_p.Y755fs|FLNB_ENST00000429972.2_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000348383.5_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000295956.4_Frame_Shift_Del_p.Y924fs NM_001164317.1 NP_001157789.1 O75369 FLNB_HUMAN filamin B, beta 924.0 Y -> H (in Ref. 7; CAE46040). {ECO:0000305}. actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725) actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822) NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120.0 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TGGTGACTTACGGTGGCGATC 0.473 0 158.0 134.0 142.0 3 58104625.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant AF043045 CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1 3p14.3 2011-02-11 2009-07-23 ENSG00000136068 ENSG00000136068 2317.0 2317.0 3755.0 protein-coding gene gene with protein product """actin binding protein 278""" 603381 """filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)""" FLN1L, LRS1 8327473, 10449914, 14991055, 16801345 Standard NM_001457 NM_001457 Approved TAP, TABP, ABP-278, FH1 uc010hne.2 O75369 OTTHUMG00000159158 ENST00000490882.1:c.2772delC 3.__UNKNOWN__:g.58104625delC ENSP00000420213:p.Tyr924fs B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9 __UNKNOWN__ CCDS54599.1 FLNB-002 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000353570.1 + ENST00000490882.1 Frame_Shift_Del DEL PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 Unknown 0 bcgsc.ca 37 X 27535964 27535964 + RNA SNP G G C TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chrX:27535964G>C RP11-268G12.1 (118850 upstream) : DCAF8L2 (72535 downstream) ATCACGGCCTGCTTTAACATT 0.418 0 SO:0001628 intergenic_variant X.__UNKNOWN__:g.27535964G>C __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 NCOA7 135112 bcgsc.ca 37 6 126243953 126243953 + Silent SNP A A G TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chr6:126243953A>G ENST00000368357.3 + 14.0 2848 c.2496A>G c.(2494-2496)ctA>ctG p.L832L NCOA7_ENST00000392477.2_Silent_p.L832L|NCOA7_ENST00000229634.9_Silent_p.L717L NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 832.0 TLD. positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) intracellular (GO:0005622)|nucleus (GO:0005634) ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257) 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) 39.0 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) GTCCTGTCCTATTGGTCATCA 0.428 0 109.0 92.0 98.0 6 126243953.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AJ420542 CCDS5132.1, CCDS56448.1 6q22.33 2013-03-14 ENSG00000111912 ENSG00000111912 135112.0 135112.0 21081.0 protein-coding gene gene with protein product """TBC/LysM-associated domain containing 4""" 609752 11971969 Standard XM_059748 NM_001199619 Approved ERAP140, dJ187J11.3, TLDC4 uc003qai.3 Q8NI08 OTTHUMG00000015513 ENST00000368357.3:c.2496A>G 6.__UNKNOWN__:g.126243953A>G B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4 __UNKNOWN__ CCDS5132.1 . . . . . . . . . . A 8.444 0.851624 0.17034 . . ENSG00000111912 ENST00000448104;ENST00000438495;ENST00000444128 . . . 5.85 -11.7 0.00046 . . . . . T 0.26159 0.0638 . . . 0.80722 D 1 . . . . . . T 0.52449 -0.8574 4 . . . -8.7854 7.7617 0.28957 0.0938:0.1142:0.5166:0.2753 . . . . V 127 . . I + 1 0 NCOA7 126285646 0.000000 0.05858 0.010000 0.14722 0.981000 0.71138 -1.102000 0.03332 -2.243000 0.00707 -0.326000 0.08463 ATT NCOA7-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000042083.4 + ENST00000368357.3 Silent SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 ALKBH2 121642 ucsc.edu 37 12 109527887 109527887 + Missense_Mutation SNP G G T TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chr12:109527887G>T ENST00000440112.2 - 2.0 283 ALKBH2_ENST00000343075.3_Missense_Mutation_p.P136T|ALKBH2_ENST00000429722.2_Missense_Mutation_p.P136T NM_001205179.1|NM_001205180.1 NP_001192108.1|NP_001192109.1 Q6NS38 ALKB2_HUMAN alkB, alkylation repair homolog 2 (E. coli) DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511) nucleoplasm (GO:0005654) cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198) endometrium(1)|kidney(3)|large_intestine(1)|lung(3) 8.0 Vitamin C(DB00126) TCTAGAACTGGGATCCAGGGC 0.562 Direct reversal of damage 0 134.0 119.0 124.0 12 109527887.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AY754389 CCDS31897.1, CCDS55883.1 12q24.11 2008-04-24 ENSG00000189046 ENSG00000189046 121642.0 121642.0 """Alkylation repair homologs""" 32487.0 protein-coding gene gene with protein product 610602 Standard NM_001001655 NM_001145374 Approved MGC90512, ABH2 uc010sxj.1 Q6NS38 OTTHUMG00000169246 ENST00000440112.2:c.281-1570C>A 12.__UNKNOWN__:g.109527887G>T A4PET2|Q5XLE3 __UNKNOWN__ CCDS55883.1 . . . . . . . . . . G 24.9 4.584190 0.86748 . . ENSG00000189046 ENST00000429722;ENST00000343075;ENST00000435370;ENST00000540305;ENST00000536242 T;T;T 0.16196 2.36;2.36;2.36 5.61 5.61 0.85477 . 0.048236 0.85682 D 0.000000 T 0.47857 0.1468 M 0.84511 2.7 0.80722 D 1 D 0.64830 0.994 D 0.69307 0.963 T 0.49597 -0.8923 10 0.54805 T 0.06 -16.671 18.6254 0.91336 0.0:0.0:1.0:0.0 . 136 Q6NS38 ALKB2_HUMAN T 136 ENSP00000398181:P136T;ENSP00000343021:P136T;ENSP00000443042:P136T ENSP00000343021:P136T P - 1 0 ALKBH2 108012270 1.000000 0.71417 0.996000 0.52242 0.986000 0.74619 5.970000 0.70431 2.636000 0.89361 0.655000 0.94253 CCA ALKBH2-003 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000403061.1 - ENST00000440112.2 Intron SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 COL9A1 1297 ucsc.edu 37 6 70944543 70944543 + Missense_Mutation SNP T T A TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chr6:70944543T>A ENST00000357250.6 - 34.0 2371 c.2213A>T c.(2212-2214)cAg>cTg p.Q738L COL9A1_ENST00000320755.7_Missense_Mutation_p.Q495L|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.Q495L NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 738.0 Collagen-like 8.|Triple-helical region (COL2). axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894) collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872) 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) 80.0 CTGTTCTCCCTGCACACCCCG 0.647 0 41.0 43.0 43.0 6 70944543.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS4971.1, CCDS47447.1 6q13 2013-05-07 ENSG00000112280 ENSG00000112280 1297.0 1297.0 """Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens""" 2217.0 protein-coding gene gene with protein product 120210 1429648 Standard NM_001851 Approved uc003pfg.4 P20849 OTTHUMG00000014988 ENST00000357250.6:c.2213A>T 6.__UNKNOWN__:g.70944543T>A ENSP00000349790:p.Gln738Leu Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3 __UNKNOWN__ CCDS4971.1 . . . . . . . . . . T 21.1 4.092425 0.76756 . . ENSG00000112280 ENST00000357250;ENST00000320755;ENST00000370499 D;D;D 0.86562 -2.14;-2.14;-2.14 5.74 5.74 0.90152 . 0.000000 0.85682 D 0.000000 D 0.88220 0.6378 L 0.38733 1.17 0.80722 D 1 D;D;D 0.89917 1.0;0.997;0.984 D;D;D 0.91635 0.999;0.995;0.909 D 0.88959 0.3392 10 0.46703 T 0.11 . 16.0236 0.80522 0.0:0.0:0.0:1.0 . 738;495;287 P20849;P20849-2;B3KWS8 CO9A1_HUMAN;.;. L 738;495;495 ENSP00000349790:Q738L;ENSP00000315252:Q495L;ENSP00000359530:Q495L ENSP00000315252:Q495L Q - 2 0 COL9A1 71001264 1.000000 0.71417 1.000000 0.80357 0.949000 0.60115 7.771000 0.85420 2.191000 0.70037 0.477000 0.44152 CAG COL9A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041131.2 - ENST00000357250.6 Missense_Mutation SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 INTS1 26173 ucsc.edu 37 7 1520077 1520077 + Missense_Mutation SNP T T A TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chr7:1520077T>A ENST00000404767.3 - 30.0 4035 c.3950A>T c.(3949-3951)gAc>gTc p.D1317V INTS1_ENST00000389470.4_Splice_Site_p.D1516V NM_001080453.2 NP_001073922.2 Q8N201 INT1_HUMAN integrator complex subunit 1 1317.0 inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474) integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020) 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) 62.0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CTCTGTGCTGTCTGCAGAGAC 0.632 0 51.0 54.0 53.0 7 1520077.0 2061.0 4212.0 6273.0 SO:0001630 splice_region_variant AB037861 CCDS47526.1 7p22.3 2009-11-06 ENSG00000164880 ENSG00000164880 26173.0 26173.0 24555.0 protein-coding gene gene with protein product 611345 16239144 Standard NM_001080453 Approved DKFZp586J0619, KIAA1440, INT1, NET28 uc003skn.2 Q8N201 OTTHUMG00000151449 ENST00000404767.3:c.3950-1A>T 7.__UNKNOWN__:g.1520077T>A A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8 __UNKNOWN__ CCDS47526.1 . . . . . . . . . . T 15.55 2.866973 0.51588 . . ENSG00000164880 ENST00000404767;ENST00000389470 T;T 0.56103 0.65;0.48 4.94 4.94 0.65067 . 0.000000 0.85682 D 0.000000 T 0.58495 0.2126 M 0.73598 2.24 0.80722 D 1 P 0.47253 0.892 P 0.44772 0.46 T 0.65936 -0.6047 10 0.62326 D 0.03 . 14.6024 0.68450 0.0:0.0:0.0:1.0 . 1317 Q8N201 INT1_HUMAN V 1317;1516 ENSP00000385722:D1317V;ENSP00000374121:D1516V ENSP00000374121:D1516V D - 2 0 INTS1 1486603 1.000000 0.71417 0.983000 0.44433 0.495000 0.33615 6.784000 0.75084 1.862000 0.54008 0.459000 0.35465 GAC INTS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000323683.1 Missense_Mutation - ENST00000404767.3 Splice_Site SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 TICAM1 148022 ucsc.edu 37 19 4817501 4817501 + Missense_Mutation SNP T T C TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chr19:4817501T>C ENST00000248244.5 - 2.0 1118 c.889A>G c.(889-891)Agc>Ggc p.S297G NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 297.0 Pro-rich. apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342) protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871) NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26.0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) TAGTTGGTGCTGGTTTCTGGA 0.627 0 32.0 38.0 36.0 19 4817501.0 2203.0 4300.0 6503.0 SO:0001583 missense AB086380 CCDS12136.1 19p13.3 2014-09-17 ENSG00000127666 148022.0 148022.0 18348.0 protein-coding gene gene with protein product 607601 12539043, 12471095 Standard NM_014261 NM_182919 Approved TRIF, TICAM-1, MGC35334, PRVTIRB uc002mbi.4 Q8IUC6 ENST00000248244.5:c.889A>G 19.__UNKNOWN__:g.4817501T>C ENSP00000248244:p.Ser297Gly B3Y691|O75532|Q86XP8|Q96GA0 __UNKNOWN__ CCDS12136.1 . . . . . . . . . . T 10.60 1.396349 0.25205 . . ENSG00000127666 ENST00000248244 T 0.52754 0.65 3.88 -0.459 0.12179 . . . . . T 0.28267 0.0698 N 0.21583 0.68 0.09310 N 1 B 0.02656 0.0 B 0.04013 0.001 T 0.15896 -1.0421 9 0.42905 T 0.14 -1.3633 4.1433 0.10203 0.1715:0.3792:0.0:0.4493 . 297 Q8IUC6 TCAM1_HUMAN G 297 ENSP00000248244:S297G ENSP00000248244:S297G S - 1 0 TICAM1 4768501 0.000000 0.05858 0.000000 0.03702 0.050000 0.14768 -0.917000 0.04025 -0.457000 0.07033 0.247000 0.18012 AGC TICAM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000450435.1 - ENST00000248244.5 Missense_Mutation SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 TTN 7273 ucsc.edu 37 2 179452062 179452062 + Silent SNP G G A TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 75f94b37-99fd-4a05-88af-89a284b000b5 c80d68e4-25c6-4f27-bbac-f615d0e4ab59 g.chr2:179452062G>A ENST00000589042.1 - 307.0 64100 c.63876C>T c.(63874-63876)aaC>aaT p.N21292N TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.N18724N|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.N12352N|TTN_ENST00000342175.6_Silent_p.N12419N|TTN_ENST00000460472.2_Silent_p.N12227N|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.N19651N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19651.0 Fibronectin type-III 54. {ECO:0000255|PROSITE-ProRule:PRU00316}. adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) 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) 1448.0 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCCACCGTCGTTTTCAGGAG 0.458 0 G ,,, 6,3804 0,6,1899 60.0 56.0 58.0 36681,56172,37056,37257 -0.4 1.0 2 58.0 0,8252 0,0,4126 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 ,,, 0,6,6025 AA,AG,GG 0.0,0.1575,0.0497 ,,, 12227/26927,18724/33424,12352/27052,12419/27119 179452062.0 6,12056 1905.0 4126.0 6031.0 SO:0001819 synonymous_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273.0 7273.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403.0 protein-coding gene gene with protein product 188840 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_133378 NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.63876C>T 2.__UNKNOWN__:g.179452062G>A A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 __UNKNOWN__ CCDS59435.1 TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 - ENST00000589042.1 Silent SNP PCPG-TCGA-SP-A6QJ-Normal-SM-5EMN2 RET 5979 broad.mit.edu 37 10 43609948 43609948 + Missense_Mutation SNP T T C rs75076352 TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr10:43609948T>C ENST00000355710.3 + 11.0 2132 c.1900T>C c.(1900-1902)Tgc>Cgc p.C634R RET_ENST00000340058.5_Missense_Mutation_p.C634R NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 634.0 C -> CHELC (in MEN2A). {ECO:0000269|PubMed:9097963}.|C -> F (in MEN2A and pheochromocytoma). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:7915165, ECO:0000269|PubMed:8099202}.|C -> G (in MEN2A and pheochromocytoma). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:7915165, ECO:0000269|PubMed:8099202}.|C -> R (in MEN2A, pheochromocytoma and MTC; familial form; also found as somatic mutation in a sporadic thyroid carcinoma). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:7860065, ECO:0000269|PubMed:8103403}.|C -> S (in MEN2A, pheochromocytoma and MTC; familial form). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8099202}.|C -> W (in MEN2A, pheochromocytoma and MTC; familial form). {ECO:0000269|PubMed:12000816}.|C -> Y (in MEN2A, pheochromocytoma and MTC; familial form). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:7860065, ECO:0000269|PubMed:7915165, ECO:0000269|PubMed:8099202}.|CR -> WG (in MEN2A).|ELC -> DVR (in MEN2A). activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657) endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) p.E632_T636>SS(14)|p.C634R(8)|p.D631_I638>A(1)|p.E632_C634>L(1)|p.E632_A640>VRP(1) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607.0 Ovarian(717;0.0423) Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398) CGACGAGCTGTGCCGCACGGT 0.622 1.0 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149) yes Dom yes Multiple endocrine neoplasia 2A/2B 10 10q11.2 5979.0 ret proto-oncogene yes """E, O""" 25 Complex - deletion inframe(17)|Substitution - Missense(8) thyroid(22)|adrenal_gland(3) GRCh37 CM930644|CM941241|CM941242 RET M rs75076352 131.0 81.0 98.0 10 43609948.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC BC004257 CCDS7200.1, CCDS53525.1 10q11.2 2014-09-17 2007-02-16 ENSG00000165731 ENSG00000165731 5979.0 5979.0 """Cadherins / Cadherin-related""" 9967.0 protein-coding gene gene with protein product """cadherin-related family member 16""" 164761 """multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1""" HSCR1, MEN2A, MTC1, MEN2B 2687772, 1611909 Standard NM_020975 NM_020975 Approved PTC, CDHF12, RET51, CDHR16 uc001jal.3 P07949 OTTHUMG00000018024 ENST00000355710.3:c.1900T>C 10.__UNKNOWN__:g.43609948T>C ENSP00000347942:p.Cys634Arg A8K6Z2|Q15250|Q9BTB0|Q9H4A2 __UNKNOWN__ CCDS7200.1 . . . . . . . . . . T 21.0 4.086585 0.76642 . . ENSG00000165731 ENST00000355710;ENST00000498820;ENST00000340058 T;D;T 0.99369 -1.24;-5.78;-1.35 4.52 4.52 0.55395 . 0.000000 0.85682 D 0.000000 D 0.99324 0.9763 M 0.79805 2.47 0.80722 A 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.998;0.999;0.999 D 0.99097 1.0842 9 0.87932 D 0 . 14.0408 0.64674 0.0:0.0:0.0:1.0 . 380;634;634 B4DGX8;P07949;P07949-2 .;RET_HUMAN;. R 634;151;634 ENSP00000347942:C634R;ENSP00000419080:C151R;ENSP00000344798:C634R ENSP00000344798:C634R C + 1 0 RET 42929954 1.000000 0.71417 0.991000 0.47740 0.863000 0.49368 7.836000 0.86788 1.902000 0.55061 0.379000 0.24179 TGC RET-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000047694.2 + ENST00000355710.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA IL13RA1 3597 broad.mit.edu 37 X 117892071 117892071 + Missense_Mutation SNP A A G TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chrX:117892071A>G ENST00000371666.3 + 5.0 609 c.542A>G c.(541-543)cAa>cGa p.Q181R IL13RA1_ENST00000371642.1_Missense_Mutation_p.Q181R|IL13RA1_ENST00000481868.1_3'UTR NM_001560.2 NP_001551.1 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 181.0 Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}. cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639) interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886) interleukin-13 receptor activity (GO:0016515) endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 12.0 AGAGAAGGCCAATACTTTGGT 0.348 0 128.0 117.0 121.0 X 117892071.0 2203.0 4300.0 6503.0 SO:0001583 missense U62858 CCDS14573.1 Xq24 2008-02-05 ENSG00000131724 ENSG00000131724 3597.0 3597.0 """Interleukins and interleukin receptors"", ""CD molecules""" 5974.0 protein-coding gene gene with protein product """IL13 receptor alpha-1 chain"", ""CD213a1 antigen""" 300119 8910586, 9013879 Standard NM_001560 NM_001560 Approved IL-13Ra, NR4, CD213a1 uc004eqs.3 P78552 OTTHUMG00000022258 ENST00000371666.3:c.542A>G X.__UNKNOWN__:g.117892071A>G ENSP00000360730:p.Gln181Arg O95646|Q5JSL4|Q99656|Q9UDY5 __UNKNOWN__ CCDS14573.1 . . . . . . . . . . A 11.75 1.732540 0.30684 . . ENSG00000131724 ENST00000371666;ENST00000371642 D;D 0.94613 -3.47;-3.47 5.59 5.59 0.84812 Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1); 0.579960 0.17836 N 0.160374 D 0.93900 0.8048 L 0.48642 1.525 0.80722 D 1 D;D;P 0.54772 0.968;0.968;0.945 P;P;P 0.56434 0.798;0.798;0.781 D 0.90796 0.4690 10 0.11794 T 0.64 -7.8765 11.2154 0.48823 1.0:0.0:0.0:0.0 . 181;181;181 Q5JSL4;P78552;Q9UDY5 .;I13R1_HUMAN;. R 181 ENSP00000360730:Q181R;ENSP00000360705:Q181R ENSP00000360705:Q181R Q + 2 0 IL13RA1 117776099 1.000000 0.71417 0.774000 0.31636 0.013000 0.08279 4.194000 0.58393 1.991000 0.58162 0.483000 0.47432 CAA IL13RA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058009.1 + ENST00000371666.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA STARD13 90627 broad.mit.edu 37 13 33741710 33741710 + Silent SNP C C T TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr13:33741710C>T ENST00000336934.5 - 2.0 335 c.219G>A c.(217-219)ccG>ccA p.P73P STARD13_ENST00000487412.1_5'UTR|STARD13_ENST00000399365.3_5'UTR|STARD13_ENST00000255486.4_Silent_p.P65P NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 73.0 SAM. regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739) GTPase activator activity (GO:0005096)|lipid binding (GO:0008289) 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) 40.0 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) GAGCGTATTGCGGGAACCCGG 0.473 0 96.0 92.0 93.0 13 33741710.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AL049801 CCDS9348.1, CCDS9349.1, CCDS9350.1 13q13.1 2013-08-13 2007-08-16 ENSG00000133121 ENSG00000133121 90627.0 90627.0 """Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing""" 19164.0 protein-coding gene gene with protein product 609866 """START domain containing 13"", ""long intergenic non-protein coding RNA 464""" LINC00464 8812419 Standard NM_001243466 NM_178006 Approved GT650, DLC2, ARHGAP37 uc001uuw.3 Q9Y3M8 OTTHUMG00000016708 ENST00000336934.5:c.219G>A 13.__UNKNOWN__:g.33741710C>T A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1 __UNKNOWN__ CCDS9348.1 STARD13-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276118.2 - ENST00000336934.5 Silent SNP PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA FAT1 2195 broad.mit.edu 37 4 187527280 187527280 + Missense_Mutation SNP C C T TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr4:187527280C>T ENST00000441802.2 - 17.0 10503 c.10294G>A c.(10294-10296)Gat>Aat p.D3432N NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3432.0 Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}. actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337) cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) 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) 228.0 TCATTGACATCGGACACATCG 0.507 HNSCC(5;0.00058) Colon(197;1040 2055 4143 4984 49344) 0 144.0 141.0 142.0 4 187527280.0 2001.0 4185.0 6186.0 SO:0001583 missense X87241 CCDS47177.1 4q35.2 2013-05-31 2013-05-31 2008-10-30 ENSG00000083857 ENSG00000083857 2195.0 2195.0 """Cadherins / Cadherin-related""" 3595.0 protein-coding gene gene with protein product """cadherin-related family member 8""" 600976 """FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)""" FAT 8586420 Standard NM_005245 XM_005262834 Approved CDHF7, CDHR8 uc003izf.3 Q14517 OTTHUMG00000160320 ENST00000441802.2:c.10294G>A 4.__UNKNOWN__:g.187527280C>T ENSP00000406229:p.Asp3432Asn __UNKNOWN__ CCDS47177.1 . . . . . . . . . . C 23.5 4.427974 0.83667 . . ENSG00000083857 ENST00000441802;ENST00000260147 T 0.03468 3.92 5.56 5.56 0.83823 Cadherin (3);Cadherin conserved site (1);Cadherin-like (1); 0.000000 0.85682 D 0.000000 T 0.27241 0.0668 M 0.91768 3.24 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 T 0.11299 -1.0593 10 0.87932 D 0 . 19.5318 0.95232 0.0:1.0:0.0:0.0 . 3432 Q14517 FAT1_HUMAN N 3432;3434 ENSP00000406229:D3432N ENSP00000260147:D3434N D - 1 0 FAT1 187764274 1.000000 0.71417 0.979000 0.43373 0.018000 0.09664 7.625000 0.83145 2.620000 0.88729 0.462000 0.41574 GAT FAT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000360209.3 - ENST00000441802.2 Missense_Mutation SNP PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA RET 5979 broad.mit.edu 37 10 43607567 43607567 + Missense_Mutation SNP T T A TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr10:43607567T>A ENST00000355710.3 + 8.0 1775 c.1543T>A c.(1543-1545)Tgc>Agc p.C515S RET_ENST00000340058.5_Missense_Mutation_p.C515S NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 515.0 activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657) endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607.0 Ovarian(717;0.0423) Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398) GGAGGCGGGCTGCCCCCTGTC 0.667 1.0 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149) yes Dom yes Multiple endocrine neoplasia 2A/2B 10 10q11.2 5979.0 ret proto-oncogene yes """E, O""" 0 61.0 57.0 58.0 10 43607567.0 2202.0 4296.0 6498.0 SO:0001583 missense Familial Cancer Database MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC BC004257 CCDS7200.1, CCDS53525.1 10q11.2 2014-09-17 2007-02-16 ENSG00000165731 ENSG00000165731 5979.0 5979.0 """Cadherins / Cadherin-related""" 9967.0 protein-coding gene gene with protein product """cadherin-related family member 16""" 164761 """multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1""" HSCR1, MEN2A, MTC1, MEN2B 2687772, 1611909 Standard NM_020975 NM_020975 Approved PTC, CDHF12, RET51, CDHR16 uc001jal.3 P07949 OTTHUMG00000018024 ENST00000355710.3:c.1543T>A 10.__UNKNOWN__:g.43607567T>A ENSP00000347942:p.Cys515Ser A8K6Z2|Q15250|Q9BTB0|Q9H4A2 __UNKNOWN__ CCDS7200.1 . . . . . . . . . . T 16.91 3.253583 0.59212 . . ENSG00000165731 ENST00000355710;ENST00000498820;ENST00000340058 T;D;T 0.98329 -1.14;-4.87;-1.25 5.73 5.73 0.89815 . 0.307999 0.41500 D 0.000867 D 0.97823 0.9285 M 0.79258 2.445 0.58432 D 0.999998 B;P;P 0.45715 0.349;0.605;0.865 B;B;P 0.46026 0.108;0.13;0.501 D 0.97682 1.0173 10 0.32370 T 0.25 . 16.0201 0.80478 0.0:0.0:0.0:1.0 . 261;515;515 B4DGX8;P07949;P07949-2 .;RET_HUMAN;. S 515;32;515 ENSP00000347942:C515S;ENSP00000419080:C32S;ENSP00000344798:C515S ENSP00000344798:C515S C + 1 0 RET 42927573 1.000000 0.71417 1.000000 0.80357 0.177000 0.22998 4.078000 0.57606 2.190000 0.69967 0.455000 0.32223 TGC RET-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000047694.2 + ENST00000355710.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA PDE4DIP 9659 broad.mit.edu 37 1 144863392 144863392 + Missense_Mutation SNP T T G TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr1:144863392T>G ENST00000530740.1 - 39.0 6304 c.6266A>C c.(6265-6267)cAg>cCg p.Q2089P PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q2004P|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1898P|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q2140P|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q2004P Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2004.0 cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) 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) 176.0 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTCAAAGAGCTGCTGTTTCTC 0.532 T PDGFRB MPD Dom yes 1 1q12 9659.0 phosphodiesterase 4D interacting protein (myomegalin) L 0 194.0 185.0 188.0 1 144863392.0 2203.0 4300.0 6503.0 SO:0001583 missense AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659.0 9659.0 15580.0 protein-coding gene gene with protein product """myomegalin""" 608117 """cardiomyopathy associated 2""" CMYA2 9455484, 11134006 Standard NM_022359 NM_022359 Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.6266A>C 1.__UNKNOWN__:g.144863392T>G ENSP00000435654:p.Gln2089Pro A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 15.86|15.86 2.958845|2.958845 0.53400|0.53400 .|. .|. ENSG00000178104|ENSG00000178104 ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130 T;T;T;T;T|. 0.01821|. 4.62;4.72;4.72;4.73;4.73|. 4.83|4.83 3.68|3.68 0.42216|0.42216 .|. .|. .|. .|. .|. T|T 0.47930|0.47930 0.1472|0.1472 L|L 0.54323|0.54323 1.7|1.7 0.80722|0.80722 D|D 1|1 D;D|. 0.56521|. 0.965;0.976|. P;P|. 0.53649|. 0.731;0.637|. T|T 0.47661|0.47661 -0.9100|-0.9100 9|5 0.62326|. D|. 0.03|. .|. 9.1081|9.1081 0.36710|0.36710 0.0:0.0943:0.0:0.9057|0.0:0.0943:0.0:0.9057 .|. 1898;2004|. Q5VU43-3;Q5VU43|. .;MYOME_HUMAN|. P|R 1898;2004;2004;2089;2140|161 ENSP00000327209:Q1898P;ENSP00000358360:Q2004P;ENSP00000358363:Q2004P;ENSP00000435654:Q2089P;ENSP00000358366:Q2140P|. ENSP00000327209:Q1898P|. Q|S -|- 2|1 0|0 PDE4DIP|PDE4DIP 143574749|143574749 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.982000|0.982000 0.71751|0.71751 1.373000|1.373000 0.34272|0.34272 1.948000|1.948000 0.56530|0.56530 0.397000|0.397000 0.26171|0.26171 CAG|AGC PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000384663.2 - ENST00000530740.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA LRP8 7804 broad.mit.edu 37 1 53732212 53732212 + Missense_Mutation SNP C C T TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr1:53732212C>T ENST00000465675.1 - 7.0 864 c.19G>A c.(19-21)Gca>Aca p.A7T LRP8_ENST00000371454.2_Missense_Mutation_p.A454T|LRP8_ENST00000306052.6_Missense_Mutation_p.A454T|LRP8_ENST00000347547.2_Missense_Mutation_p.A284T|LRP8_ENST00000354412.3_Missense_Mutation_p.A325T Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 454.0 ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165) caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229) endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21.0 ACATCTAGTGCCACGACATTC 0.542 0 208.0 163.0 178.0 1 53732212.0 2203.0 4300.0 6503.0 SO:0001583 missense D50678 CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1 1p32.3 2013-05-29 ENSG00000157193 ENSG00000157193 7804.0 7804.0 """Low density lipoprotein receptors""" 6700.0 protein-coding gene gene with protein product 602600 8626535, 9079678 Standard NM_004631 NM_004631 Approved APOER2, MCI1, LRP-8, HSZ75190 uc001cvi.2 Q14114 OTTHUMG00000008924 ENST00000465675.1:c.19G>A 1.__UNKNOWN__:g.53732212C>T ENSP00000437009:p.Ala7Thr B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 34|34 5.351959|5.351959 0.95830|0.95830 .|. .|. ENSG00000157193|ENSG00000157193 ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547|ENST00000475501 D;D;D;D;D|. 0.91843|. -2.92;-2.92;-2.92;-2.92;-2.92|. 5.05|5.05 5.05|5.05 0.67936|0.67936 Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|. .|. .|. .|. .|. T|. 0.74520|. 0.3727|. M|M 0.78285|0.78285 2.405|2.405 0.80722|0.80722 D|D 1|1 P;D;P;D;P;D|. 0.59357|. 0.948;0.983;0.936;0.967;0.942;0.985|. P;P;P;P;P;P|. 0.61003|. 0.723;0.48;0.882;0.606;0.629;0.723|. T|. 0.75382|. -0.3337|. 9|. 0.87932|. D|. 0|. .|. 13.5527|13.5527 0.61740|0.61740 0.1555:0.8445:0.0:0.0|0.1555:0.8445:0.0:0.0 .|. 7;325;284;454;454;7|. B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15|. .;.;.;.;LRP8_HUMAN;.|. T|X 454;454;7;325;284|142 ENSP00000303634:A454T;ENSP00000360509:A454T;ENSP00000437009:A7T;ENSP00000346391:A325T;ENSP00000334522:A284T|. ENSP00000303634:A454T|. A|W -|- 1|3 0|0 LRP8|LRP8 53504800|53504800 1.000000|1.000000 0.71417|0.71417 0.999000|0.999000 0.59377|0.59377 0.984000|0.984000 0.73092|0.73092 4.633000|4.633000 0.61318|0.61318 2.620000|2.620000 0.88729|0.88729 0.563000|0.563000 0.77884|0.77884 GCA|TGG LRP8-004 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000024702.2 - ENST00000465675.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA SVEP1 79987 broad.mit.edu 37 9 113242030 113242030 + Missense_Mutation SNP C C T TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr9:113242030C>T ENST00000374469.1 - 13.0 2566 c.2303G>A c.(2302-2304)cGt>cAt p.R768H SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.R768H|SVEP1_ENST00000302728.8_Missense_Mutation_p.R791H|SVEP1_ENST00000401783.2_Missense_Mutation_p.R791H Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 791.0 Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}. cell adhesion (GO:0007155) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020) calcium ion binding (GO:0005509)|chromatin binding (GO:0003682) 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) 147.0 GTTTGCAAAACGTTTTTCTAG 0.343 0 166.0 160.0 162.0 9 113242030.0 1826.0 4096.0 5922.0 SO:0001583 missense AK027870 9q31-q32 2008-02-05 2005-03-15 2005-03-17 ENSG00000165124 ENSG00000165124 79987.0 79987.0 15985.0 protein-coding gene gene with protein product 611691 """chromosome 9 open reading frame 13""" C9orf13 Standard NM_153366 Approved bA427L11.3, POLYDOM, FLJ13529 uc010mtz.3 Q4LDE5 OTTHUMG00000020482 ENST00000374469.1:c.2303G>A 9.__UNKNOWN__:g.113242030C>T ENSP00000363593:p.Arg768His Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9 __UNKNOWN__ . . . . . . . . . . C 34 5.331678 0.95733 . . ENSG00000165124 ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461 T;T;T;T 0.79247 -1.08;-1.08;-1.25;1.08 5.94 5.94 0.96194 . 0.000000 0.85682 D 0.000000 D 0.88533 0.6462 M 0.73598 2.24 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.87578 0.991;0.997;0.998 D 0.87519 0.2445 10 0.51188 T 0.08 . 19.9762 0.97309 0.0:1.0:0.0:0.0 . 791;791;791 E9PBN8;Q4LDE5;Q4LDE5-2 .;SVEP1_HUMAN;. H 791;768;791;768 ENSP00000384917:R791H;ENSP00000363593:R768H;ENSP00000304118:R791H;ENSP00000363585:R768H ENSP00000304118:R791H R - 2 0 SVEP1 112281851 1.000000 0.71417 1.000000 0.80357 0.944000 0.59088 6.999000 0.76283 2.820000 0.97059 0.650000 0.86243 CGT SVEP1-003 KNOWN basic protein_coding protein_coding OTTHUMT00000053622.1 - ENST00000374469.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA RASA3 22821 broad.mit.edu 37 13 114782724 114782724 + Missense_Mutation SNP C C T TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr13:114782724C>T ENST00000334062.7 - 12.0 1316 c.1195G>A c.(1195-1197)Gcc>Acc p.A399T RASA3_ENST00000389544.4_Missense_Mutation_p.A367T NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 399.0 Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}. calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235) calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47.0 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) TCCTCGATGGCGGGCTTCAGG 0.622 OREG0022538 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 C THR/ALA 1,4405 2.1+/-5.4 0,1,2202 146.0 117.0 127.0 1195 -0.3 0.9 13 127.0 0,8600 0,0,4300 no missense RASA3 NM_007368.2 58 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 benign 399/835 114782724.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense CCDS32016.1 13q34 2013-01-10 ENSG00000185989 ENSG00000185989 22821.0 22821.0 """Pleckstrin homology (PH) domain containing""" 20331.0 protein-coding gene gene with protein product 605182 7637787, 9382842 Standard NM_007368 NM_007368 Approved GAP1IP4BP, GAPIII uc001vui.3 Q14644 OTTHUMG00000017399 ENST00000334062.7:c.1195G>A 13.__UNKNOWN__:g.114782724C>T ENSP00000335029:p.Ala399Thr 1460.0 A6NL15|F8W6X8|Q8IUY2 __UNKNOWN__ CCDS32016.1 . . . . . . . . . . C 8.051 0.766071 0.15983 2.27E-4 0.0 ENSG00000185989 ENST00000334062;ENST00000389544 T;T 0.79141 -1.24;-1.24 4.86 -0.293 0.12835 Rho GTPase activation protein (1);Ras GTPase-activating protein (4); 0.344807 0.31648 N 0.007281 T 0.43634 0.1256 N 0.01228 -0.945 0.80722 D 1 B 0.02656 0.0 B 0.13407 0.009 T 0.09862 -1.0655 9 . . . . 8.739 0.34545 0.0:0.2969:0.0:0.7031 . 399 Q14644 RASA3_HUMAN T 399;367 ENSP00000335029:A399T;ENSP00000374195:A367T . A - 1 0 RASA3 113800826 0.943000 0.32029 0.862000 0.33874 0.169000 0.22640 0.809000 0.27168 -0.301000 0.08882 -0.136000 0.14681 GCC RASA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045957.2 - ENST00000334062.7 Missense_Mutation SNP PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA TRAV8-2 0 broad.mit.edu 37 14 22315304 22315304 + RNA SNP G G A TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr14:22315304G>A ENST00000390434.3 + 0.0 467 T cell receptor alpha variable 8-2 GGCATCAACGGTTTTGAGGCT 0.498 OREG0022570 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 125.0 121.0 123.0 14 22315304.0 1882.0 4102.0 5984.0 AE000659 14q11.2 2012-02-07 ENSG00000211786 ENSG00000211786 28684.0 28684.0 """T cell receptors / TRA locus""" 12147.0 other T cell receptor gene 8188290 Standard NG_001332 NG_001332 Approved OTTHUMG00000168991 ENST00000390434.3: 14.__UNKNOWN__:g.22315304G>A 755.0 __UNKNOWN__ TRAV8-2-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene TR_V_gene OTTHUMT00000401889.1 + ENST00000390434.3 RNA SNP PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA KCTD5 54442 broad.mit.edu 37 16 2732747 2732747 + Silent SNP G G A TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr16:2732747G>A ENST00000301738.4 + 1.0 272 c.198G>A c.(196-198)ccG>ccA p.P66P KCTD5_ENST00000564195.1_Silent_p.P66P NM_018992.3 NP_061865.1 Q9NXV2 KCTD5_HUMAN potassium channel tetramerization domain containing 5 66.0 BTB. protein homooligomerization (GO:0051260)|viral process (GO:0016032) cytosol (GO:0005829)|nucleus (GO:0005634) protein complex binding (GO:0032403) haematopoietic_and_lymphoid_tissue(1)|lung(1) 2.0 GCCGGGACCCGAAATCCTTCC 0.687 Ovarian(56;981 1456 4301 50892) 0 46.0 44.0 45.0 16 2732747.0 2198.0 4300.0 6498.0 SO:0001819 synonymous_variant AK000047 CCDS10475.1 16p13.3 2013-06-20 2013-06-20 ENSG00000167977 ENSG00000167977 54442.0 54442.0 21423.0 protein-coding gene gene with protein product 611285 """potassium channel tetramerisation domain containing 5""" 12477932 Standard NM_018992 NM_018992 Approved FLJ20040 uc002crd.3 Q9NXV2 OTTHUMG00000128930 ENST00000301738.4:c.198G>A 16.__UNKNOWN__:g.2732747G>A D3DU96 __UNKNOWN__ CCDS10475.1 KCTD5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250909.2 + ENST00000301738.4 Silent SNP PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA L1CAM 3897 broad.mit.edu 37 X 153134383 153134383 + Missense_Mutation SNP G G A TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chrX:153134383G>A ENST00000370060.1 - 12.0 1481 c.1292C>T c.(1291-1293)gCg>gTg p.A431V L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 431.0 Ig-like C2-type 5. axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409) cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195) sialic acid binding (GO:0033691) 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) 81.0 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) CTGATTGTCCGCAGTCAGGAT 0.617 0 128.0 97.0 107.0 X 153134383.0 2203.0 4300.0 6503.0 SO:0001583 missense M74387 CCDS14733.1, CCDS14734.1, CCDS48192.1 Xq28 2014-09-17 2003-04-07 ENSG00000198910 ENSG00000198910 3897.0 3897.0 """CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 6470.0 protein-coding gene gene with protein product 308840 """antigen identified by monoclonal antibody R1""" HSAS1, SPG1, HSAS, MASA, MIC5, S10 Standard NM_024003 NM_001278116 Approved CD171 uc031tks.1 P32004 OTTHUMG00000024221 ENST00000370060.1:c.1292C>T X.__UNKNOWN__:g.153134383G>A ENSP00000359077:p.Ala431Val A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87 __UNKNOWN__ CCDS14733.1 . . . . . . . . . . G 7.720 0.696948 0.15106 . . ENSG00000198910 ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699 T;T;T;T;T;T;T 0.60424 0.19;0.2;0.19;0.21;0.23;0.23;0.19 5.53 0.212 0.15240 Immunoglobulin-like (1); 1.465370 0.04158 N 0.322492 T 0.44540 0.1298 L 0.29908 0.895 0.09310 N 1 B;B;B 0.20164 0.034;0.017;0.042 B;B;B 0.16722 0.009;0.006;0.016 T 0.34477 -0.9827 10 0.62326 D 0.03 . 4.1815 0.10378 0.0831:0.2626:0.4422:0.212 . 426;431;431 G3XAF4;P32004-2;P32004 .;.;L1CAM_HUMAN V 431;433;431;433;426;426;431 ENSP00000359077:A431V;ENSP00000438430:A433V;ENSP00000359074:A431V;ENSP00000439645:A433V;ENSP00000354712:A426V;ENSP00000359072:A426V;ENSP00000355380:A431V ENSP00000355380:A431V A - 2 0 L1CAM 152787577 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 0.054000 0.14205 -0.087000 0.12528 -0.347000 0.07816 GCG L1CAM-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000061094.2 - ENST00000370060.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA HSPA6 3310 broad.mit.edu 37 1 161495338 161495338 + Missense_Mutation SNP C C A rs138955233 by1000genomes TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr1:161495338C>A ENST00000309758.4 + 1.0 1303 c.890C>A c.(889-891)aCg>aAg p.T297K RP11-25K21.6_ENST00000537821.2_RNA NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 297.0 T -> K. {ECO:0000269|Ref.2}. ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986) blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082) endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21.0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) GACTTCTACACGTCCATCACT 0.642 0 30.0 33.0 32.0 1 161495338.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS1231.1 1q23.3 2011-09-02 2002-08-29 ENSG00000173110 ENSG00000173110 3310.0 3310.0 """Heat shock proteins / HSP70""" 5239.0 protein-coding gene gene with protein product 140555 """heat shock 70kD protein 6 (HSP70B')""" 1346391 Standard NM_002155 NM_002155 Approved uc001gaq.3 P17066 OTTHUMG00000034461 ENST00000309758.4:c.890C>A 1.__UNKNOWN__:g.161495338C>A ENSP00000310219:p.Thr297Lys Q1HBA8|Q8IYK7|Q9BT95 __UNKNOWN__ CCDS1231.1 . . . . . . . . . . . 15.63 2.888978 0.52014 . . ENSG00000173110 ENST00000309758;ENST00000545155 T 0.09723 2.95 3.12 3.12 0.35913 . 0.000000 0.40064 U 0.001196 T 0.22551 0.0544 M 0.83852 2.665 0.46749 D 0.999186 D 0.76494 0.999 D 0.67231 0.95 T 0.04191 -1.0970 10 0.87932 D 0 . 11.6907 0.51514 0.0:1.0:0.0:0.0 . 297 P17066 HSP76_HUMAN K 297;273 ENSP00000310219:T297K ENSP00000310219:T297K T + 2 0 HSPA6 159761962 0.979000 0.34478 0.451000 0.26982 0.424000 0.31475 2.523000 0.45580 1.544000 0.49359 0.543000 0.68304 ACG HSPA6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000083308.1 + ENST00000309758.4 Missense_Mutation SNP PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA NCOA7 135112 broad.mit.edu 37 6 126210125 126210125 + Missense_Mutation SNP G G C TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr6:126210125G>C ENST00000368357.3 + 10.0 1277 c.925G>C c.(925-927)Gaa>Caa p.E309Q NCOA7_ENST00000229634.9_Missense_Mutation_p.E194Q|NCOA7_ENST00000392477.2_Missense_Mutation_p.E309Q NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 309.0 positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) intracellular (GO:0005622)|nucleus (GO:0005634) ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257) 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) 39.0 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) CAGGCCTGGAGAATGGGAAGA 0.408 0 96.0 100.0 98.0 6 126210125.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ420542 CCDS5132.1, CCDS56448.1 6q22.33 2013-03-14 ENSG00000111912 ENSG00000111912 135112.0 135112.0 21081.0 protein-coding gene gene with protein product """TBC/LysM-associated domain containing 4""" 609752 11971969 Standard XM_059748 NM_001199619 Approved ERAP140, dJ187J11.3, TLDC4 uc003qai.3 Q8NI08 OTTHUMG00000015513 ENST00000368357.3:c.925G>C 6.__UNKNOWN__:g.126210125G>C ENSP00000357341:p.Glu309Gln B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4 __UNKNOWN__ CCDS5132.1 . . . . . . . . . . G 29.7 5.027791 0.93518 . . ENSG00000111912 ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085 T;T;T;T 0.35421 2.42;2.42;2.59;1.31 5.7 5.7 0.88788 . 0.098474 0.64402 D 0.000002 T 0.45377 0.1339 L 0.34521 1.04 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.87578 0.996;0.998;0.96 T 0.37596 -0.9699 10 0.59425 D 0.04 3.7302 20.2246 0.98337 0.0:0.0:1.0:0.0 . 298;298;309 B3KXK4;Q8NI08-2;Q8NI08 .;.;NCOA7_HUMAN Q 309;309;194;107 ENSP00000357341:E309Q;ENSP00000376269:E309Q;ENSP00000229634:E194Q;ENSP00000389186:E107Q ENSP00000229634:E194Q E + 1 0 NCOA7 126251818 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.820000 0.99359 2.861000 0.98227 0.655000 0.94253 GAA NCOA7-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000042083.4 + ENST00000368357.3 Missense_Mutation SNP PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA KLK12 43849 broad.mit.edu 37 19 51534095 51534095 + Missense_Mutation SNP G G A TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr19:51534095G>A ENST00000250351.4 - 5.0 656 c.540C>T c.(538-540)atC>atT p.I180I KLK12_ENST00000529888.1_Missense_Mutation_p.H94Y|KLK12_ENST00000525263.1_Silent_p.I180I|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Silent_p.I180I|KLK12_ENST00000250352.11_Silent_p.I70I Q9UKR0 KLK12_HUMAN kallikrein-related peptidase 12 180.0 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. proteolysis (GO:0006508) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 12.0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) TGTTGCTCGTGATTCTCCCGG 0.622 0 162.0 148.0 153.0 19 51534095.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS12820.1, CCDS12821.1, CCDS54298.1 19q13.33 2008-02-05 2006-10-27 ENSG00000186474 ENSG00000186474 43849.0 43849.0 """Kallikreins""" 6360.0 protein-coding gene gene with protein product 605539 """kallikrein 12""" 16800724, 16800723 Standard NM_019598 NM_019598 Approved KLK-L5 uc002pvh.1 Q9UKR0 OTTHUMG00000165806 ENST00000250351.4:c.540C>T 19.__UNKNOWN__:g.51534095G>A Q9UKR1|Q9UKR2 __UNKNOWN__ CCDS12820.1 . . . . . . . . . . g 6.807 0.517870 0.13005 . . ENSG00000186474 ENST00000529888 D 0.83075 -1.68 4.37 2.02 0.26589 . . . . . T 0.72645 0.3486 . . . 0.80722 D 1 B 0.24043 0.096 B 0.21708 0.036 T 0.67173 -0.5737 8 0.41790 T 0.15 . 6.6077 0.22734 0.1183:0.1989:0.6828:0.0 . 94 Q9UKR2 . Y 94 ENSP00000434036:H94Y ENSP00000434036:H94Y H - 1 0 KLK12 56225907 1.000000 0.71417 0.990000 0.47175 0.228000 0.25075 1.116000 0.31221 1.009000 0.39289 0.305000 0.20034 CAC KLK12-008 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000398364.1 - ENST00000250351.4 Silent SNP PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA PHF7 51533 broad.mit.edu 37 3 52456806 52456806 + Silent SNP C C T TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr3:52456806C>T ENST00000327906.3 + 10.0 1488 c.828C>T c.(826-828)tgC>tgT p.C276C PHF7_ENST00000347025.2_Silent_p.C237C NM_016483.4 NP_057567.3 Q9BWX1 PHF7_HUMAN PHD finger protein 7 276.0 Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) breast(2)|large_intestine(4)|lung(3) 9.0 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) GTGCTACATGCGGATCCCACG 0.532 0 136.0 127.0 130.0 3 52456806.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AY014283 CCDS2854.1, CCDS2855.1 3p21.31 2013-01-28 ENSG00000010318 ENSG00000010318 51533.0 51533.0 """Zinc fingers, PHD-type""" 18458.0 protein-coding gene gene with protein product 11042152, 11829468 Standard NM_016483 NM_016483 Approved NYD-SP6, HSPC226 uc003ddy.3 Q9BWX1 OTTHUMG00000158495 ENST00000327906.3:c.828C>T 3.__UNKNOWN__:g.52456806C>T K4DI82 __UNKNOWN__ CCDS2854.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 8.820|8.820 0.937423|0.937423 0.18206|0.18206 .|. .|. ENSG00000010318|ENSG00000010318 ENST00000461861|ENST00000454052 .|. .|. .|. 6.05|6.05 -4.85|-4.85 0.03142|0.03142 .|. .|. .|. .|. .|. T|T 0.69468|0.69468 0.3114|0.3114 .|. .|. .|. 0.80722|0.80722 D|D 1|1 .|. .|. .|. .|. .|. .|. T|T 0.75393|0.75393 -0.3333|-0.3333 4|5 .|0.87932 .|D .|0 -1.8269|-1.8269 14.3904|14.3904 0.66975|0.66975 0.0:0.2677:0.0:0.7323|0.0:0.2677:0.0:0.7323 .|. .|. .|. .|. V|W 236|202 .|. .|ENSP00000399257:R202W A|R +|+ 2|1 0|2 PHF7|PHF7 52431846|52431846 0.002000|0.002000 0.14202|0.14202 0.681000|0.681000 0.30009|0.30009 0.919000|0.919000 0.55068|0.55068 -3.021000|-3.021000 0.00642|0.00642 -0.794000|-0.794000 0.04468|0.04468 -0.794000|-0.794000 0.03295|0.03295 GCG|CGG PHF7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351155.1 + ENST00000327906.3 Silent SNP PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA BBS7 0 broad.mit.edu 37 4 122774228 122774228 + Silent SNP A A G TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr4:122774228A>G ENST00000264499.4 - 8.0 915 c.732T>C c.(730-732)atT>atC p.I244I BBS7_ENST00000506636.1_Silent_p.I244I NM_176824.2 NP_789794.1 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 244.0 brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601) axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886) RNA polymerase II repressing transcription factor binding (GO:0001103) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2) 30.0 CAAAGCTGTCAATACACAAAA 0.333 Bardet-Biedl syndrome 0 110.0 96.0 101.0 4 122774228.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant Familial Cancer Database BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome AF521644 CCDS3724.1, CCDS54799.1 4q27 2013-01-08 ENSG00000138686 ENSG00000138686 55212.0 18758.0 protein-coding gene gene with protein product 607590 Standard NM_176824 Approved FLJ10715, BBS2L1 uc003ied.3 Q8IWZ6 OTTHUMG00000133076 ENST00000264499.4:c.732T>C 4.__UNKNOWN__:g.122774228A>G Q4W5P8|Q8N581|Q9NVI4 __UNKNOWN__ CCDS3724.1 BBS7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256716.1 - ENST00000264499.4 Silent SNP PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA ZNF484 83744 broad.mit.edu 37 9 95609713 95609713 + Frame_Shift_Del DEL T T - TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr9:95609713delT ENST00000375495.3 - 5.0 1504 c.1356delA c.(1354-1356)aaafs p.K452fs ZNF484_ENST00000395506.3_Frame_Shift_Del_p.K454fs|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Frame_Shift_Del_p.K416fs|ZNF484_ENST00000332591.6_Frame_Shift_Del_p.K416fs NM_031486.2 NP_113674.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 452.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33.0 GGAGTTGTGATTTTTTAATAA 0.383 0 76.0 76.0 76.0 9 95609713.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant AK091203 CCDS35066.1, CCDS35067.1, CCDS59136.1 9q22.32 2013-01-08 ENSG00000127081 ENSG00000127081 83744.0 83744.0 """Zinc fingers, C2H2-type"", ""-""" 23385.0 protein-coding gene gene with protein product Standard XM_046861 NM_001007101 Approved BA526D8.4, FLJ33884 uc004asu.2 Q5JVG2 OTTHUMG00000020236 ENST00000375495.3:c.1356delA 9.__UNKNOWN__:g.95609713delT ENSP00000364645:p.Lys452fs B1AL89|B4DRI2 __UNKNOWN__ CCDS35066.1 ZNF484-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000053111.2 - ENST00000375495.3 Frame_Shift_Del DEL PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA Unknown 0 bcgsc.ca 37 1 229824934 229824934 + RNA SNP G G C TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr1:229824934G>C URB2 (28988 upstream) : RP11-286M16.1 (186362 downstream) TCCTTGGTAGGCCTGGGTGGC 0.522 0 SO:0001628 intergenic_variant 1.__UNKNOWN__:g.229824934G>C __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA GPR135 64582 ucsc.edu 37 14 59930963 59930963 + Missense_Mutation SNP G G A TCGA-SP-A6QK-01A-11D-A35I-08 TCGA-SP-A6QK-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq a8faaac2-d88c-41c9-aa3f-c073a574a4c8 072a0cc2-5721-4b9a-a19c-dbc4f36876fd g.chr14:59930963G>A ENST00000395116.1 - 1.0 1097 c.982C>T c.(982-984)Cgc>Tgc p.R328C NM_022571.5 NP_072093.2 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 328.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13.0 OV - Ovarian serous cystadenocarcinoma(108;0.134) GTGGCCGTGCGCACCTCGCTG 0.672 0 22.0 23.0 23.0 14 59930963.0 2195.0 4294.0 6489.0 SO:0001583 missense AY288418 CCDS9738.1 14q23.1 2012-08-21 ENSG00000181619 ENSG00000181619 64582.0 64582.0 """GPCR / Class A : Orphans""" 19991.0 protein-coding gene gene with protein product 607970 14623098 Standard NM_022571 NM_022571 Approved HUMNPIIY20, PAFR uc010apj.3 Q8IZ08 OTTHUMG00000140325 ENST00000395116.1:c.982C>T 14.__UNKNOWN__:g.59930963G>A ENSP00000378548:p.Arg328Cys Q7Z604|Q86SM3|Q8NH39 __UNKNOWN__ CCDS9738.1 . . . . . . . . . . g 19.75 3.885777 0.72410 . . ENSG00000181619 ENST00000395116 T 0.45276 0.9 4.31 3.39 0.38822 GPCR, rhodopsin-like superfamily (1); 0.000000 0.64402 U 0.000001 T 0.66436 0.2789 M 0.87328 2.875 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.71586 -0.4548 10 0.87932 D 0 -13.2337 11.4278 0.50020 0.0:0.0:0.6723:0.3277 . 328 Q8IZ08 GP135_HUMAN C 328 ENSP00000378548:R328C ENSP00000378548:R328C R - 1 0 GPR135 59000716 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 2.566000 0.45948 0.984000 0.38629 0.558000 0.71614 CGC GPR135-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276941.1 - ENST00000395116.1 Missense_Mutation SNP PCPG-TCGA-SP-A6QK-Normal-SM-5EMNA ANGEL1 23357 broad.mit.edu 37 14 77275462 77275462 + Missense_Mutation SNP T T C TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr14:77275462T>C ENST00000251089.2 - 2.0 701 c.589A>G c.(589-591)Atc>Gtc p.I197V NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 197.0 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22.0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) AAGGGCCAGATGGAAGCCTCT 0.612 0 42.0 40.0 40.0 14 77275462.0 2203.0 4300.0 6503.0 SO:0001583 missense AF111169 CCDS9852.1 14q24.3 2014-06-17 2005-08-04 ENSG00000013523 ENSG00000013523 23357.0 23357.0 19961.0 protein-coding gene gene with protein product KIAA0759 11943475 Standard NM_015305 NM_015305 Approved Ccr4e uc001xsv.3 Q9UNK9 OTTHUMG00000171494 ENST00000251089.2:c.589A>G 14.__UNKNOWN__:g.77275462T>C ENSP00000251089:p.Ile197Val B4DWL7|O94859|Q8NCS9 __UNKNOWN__ CCDS9852.1 . . . . . . . . . . T 3.428 -0.116698 0.06838 . . ENSG00000013523 ENST00000251089 T 0.21543 2.0 5.6 -3.43 0.04810 . 1.450350 0.03704 N 0.249089 T 0.08714 0.0216 N 0.03608 -0.345 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.32824 -0.9892 10 0.11485 T 0.65 0.0062 9.1402 0.36899 0.0:0.5581:0.1255:0.3164 . 197 Q9UNK9 ANGE1_HUMAN V 197 ENSP00000251089:I197V ENSP00000251089:I197V I - 1 0 ANGEL1 76345215 0.017000 0.18338 0.381000 0.26106 0.907000 0.53573 0.106000 0.15354 -0.707000 0.05022 -1.148000 0.01847 ATC ANGEL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000413712.2 - ENST00000251089.2 Missense_Mutation SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5EMNL CD82 3732 broad.mit.edu 37 11 44640634 44640634 + Silent SNP G G A TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr11:44640634G>A ENST00000227155.4 + 10.0 1010 c.762G>A c.(760-762)cgG>cgA p.R254R CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Silent_p.R229R NM_002231.3 NP_002222.1 P27701 CD82_HUMAN CD82 molecule 254.0 extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) large_intestine(1)|ovary(1) 2.0 GCTTGTGCCGGCACGTCCATT 0.652 0 148.0 124.0 132.0 11 44640634.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant U20770 CCDS7909.1, CCDS31469.1 11p11.2 2013-02-14 2006-03-28 2005-03-03 ENSG00000085117 3732.0 3732.0 """CD molecules"", ""Tetraspanins""" 6210.0 protein-coding gene gene with protein product """suppression of tumorigenicity 6"", ""R2 leukocyte antigen""" 600623 """kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))"", ""CD82 antigen""" ST6, KAI1 Standard XM_006718222 Approved R2, IA4, TSPAN27 uc001myc.3 P27701 ENST00000227155.4:c.762G>A 11.__UNKNOWN__:g.44640634G>A D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2 __UNKNOWN__ CCDS7909.1 CD82-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389886.1 + ENST00000227155.4 Silent SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5EMNL ARHGEF17 9828 broad.mit.edu 37 11 73021126 73021126 + Silent SNP C C T rs145219831 TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr11:73021126C>T ENST00000263674.3 + 1.0 1793 c.1443C>T c.(1441-1443)gaC>gaT p.D481D NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 481.0 actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32.0 TGCGCTCAGACCTTTCAGAGC 0.577 0 C 1,4399 2.1+/-5.4 0,1,2199 64.0 71.0 68.0 1443 0.5 1.0 11 dbSNP_134 68.0 5,8581 4.3+/-15.6 0,5,4288 yes coding-synonymous ARHGEF17 NM_014786.3 0,6,6487 TT,TC,CC 0.0582,0.0227,0.0462 481/2064 73021126.0 6,12980 2200.0 4293.0 6493.0 SO:0001819 synonymous_variant AF378754 CCDS8221.1 11q13.3 2011-11-16 ENSG00000110237 ENSG00000110237 9828.0 9828.0 """Rho guanine nucleotide exchange factors""" 21726.0 protein-coding gene gene with protein product """Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4""" 11559528, 12071859 Standard NM_014786 NM_014786 Approved TEM4, KIAA0337, p164-RhoGEF uc001otu.3 Q96PE2 OTTHUMG00000167971 ENST00000263674.3:c.1443C>T 11.__UNKNOWN__:g.73021126C>T B2RP20|Q86XU2|Q8N2S0|Q9Y4G3 __UNKNOWN__ CCDS8221.1 ARHGEF17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000397365.1 + ENST00000263674.3 Silent SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5EMNL SOCS5 0 broad.mit.edu 37 2 46986916 46986916 + Missense_Mutation SNP C C A TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr2:46986916C>A ENST00000306503.5 + 2.0 1419 c.1247C>A c.(1246-1248)tCt>tAt p.S416Y SOCS5_ENST00000394861.2_Missense_Mutation_p.S416Y NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 416.0 SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}. cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008) receptor tyrosine kinase binding (GO:0030971) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22.0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) TACCTCTTCTCTGTGAGCTTC 0.527 0 82.0 80.0 80.0 2 46986916.0 2203.0 4300.0 6503.0 SO:0001583 missense AB014571 CCDS1830.1 2p21 2013-02-14 ENSG00000171150 ENSG00000171150 9655.0 """Suppressors of cytokine signaling"", ""SH2 domain containing""" 16852.0 protein-coding gene gene with protein product 607094 9734811, 11230166 Standard NM_014011 Approved KIAA0671, SOCS-5, CIS6, CISH6, Cish5 uc002rvf.3 O75159 OTTHUMG00000128852 ENST00000306503.5:c.1247C>A 2.__UNKNOWN__:g.46986916C>A ENSP00000305133:p.Ser416Tyr Q53SD4|Q8IYZ4 __UNKNOWN__ CCDS1830.1 . . . . . . . . . . C 21.0 4.078332 0.76528 . . ENSG00000171150 ENST00000306503;ENST00000394861 D;D 0.89617 -2.54;-2.54 5.43 5.43 0.79202 SH2 motif (4); 0.051815 0.85682 D 0.000000 D 0.96300 0.8793 H 0.94925 3.6 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.96928 0.9679 10 0.87932 D 0 -20.6106 19.0206 0.92912 0.0:1.0:0.0:0.0 . 416 O75159 SOCS5_HUMAN Y 416 ENSP00000305133:S416Y;ENSP00000378330:S416Y ENSP00000305133:S416Y S + 2 0 SOCS5 46840420 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.651000 0.83577 2.824000 0.97209 0.655000 0.94253 TCT SOCS5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250791.2 + ENST00000306503.5 Missense_Mutation SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5EMNL PML 5371 broad.mit.edu 37 15 74336715 74336715 + Missense_Mutation SNP C C G TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr15:74336715C>G ENST00000268058.3 + 9.0 2111 c.2015C>G c.(2014-2016)cCt>cGt p.P672R PML_ENST00000565898.1_Missense_Mutation_p.P624R NM_033238.2 NP_150241.2 P29590 PML_HUMAN promyelocytic leukemia 672.0 activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605) cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) 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) 31.0 ATGCGCCGCCCTATCTTGGCC 0.602 T """RARA, PAX5""" """APL, ALL""" Dom yes 15 15q22 5371.0 promyelocytic leukemia L 0 55.0 56.0 55.0 15 74336715.0 2198.0 4297.0 6495.0 SO:0001583 missense AB208950 CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1 15q24.1 2011-04-21 ENSG00000140464 ENSG00000140464 5371.0 5371.0 """Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers""" 9113.0 protein-coding gene gene with protein product 102578 Standard NM_002675 NM_033244 Approved MYL, TRIM19, RNF71 uc002awv.3 P29590 OTTHUMG00000137607 ENST00000268058.3:c.2015C>G 15.__UNKNOWN__:g.74336715C>G ENSP00000268058:p.Pro672Arg E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3 __UNKNOWN__ CCDS10255.1 . . . . . . . . . . C 17.75 3.467297 0.63625 . . ENSG00000140464 ENST00000268058;ENST00000417341;ENST00000418568 T 0.67171 -0.25 5.18 5.18 0.71444 . 0.000000 0.49916 D 0.000127 T 0.74839 0.3769 L 0.36672 1.1 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 0.999;1.0 T 0.76958 -0.2766 10 0.87932 D 0 -39.3202 15.543 0.76070 0.0:1.0:0.0:0.0 . 672;624 P29590;P29590-11 PML_HUMAN;. R 672;233;655 ENSP00000268058:P672R ENSP00000268058:P672R P + 2 0 PML 72123768 0.839000 0.29477 0.891000 0.34965 0.908000 0.53690 2.913000 0.48790 2.685000 0.91497 0.563000 0.77884 CCT PML-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269021.3 + ENST00000268058.3 Missense_Mutation SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5EMNL HP 3240 broad.mit.edu 37 16 72094218 72094218 + Missense_Mutation SNP T T C TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr16:72094218T>C ENST00000355906.5 + 7.0 708 c.650T>C c.(649-651)aTt>aCt p.I217T HP_ENST00000398131.2_Missense_Mutation_p.I158T|HP_ENST00000570083.1_Missense_Mutation_p.I158T|HP_ENST00000357763.4_Missense_Mutation_p.I253T|HP_ENST00000565574.1_Missense_Mutation_p.I158T|HP_ENST00000562526.1_Intron|HPR_ENST00000356967.5_Intron NM_005143.3 NP_005134.1 P00738 HPT_HUMAN haptoglobin 217.0 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542) blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838) antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7.0 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) GCGAAAGACATTGCCCCTACT 0.453 0 65.0 63.0 64.0 16 72094218.0 1900.0 4120.0 6020.0 SO:0001583 missense CCDS45524.1, CCDS45525.1 16q22.2 2012-10-02 ENSG00000257017 ENSG00000257017 3240.0 3240.0 5141.0 protein-coding gene gene with protein product 140100 11109501, 9352226 Standard NM_005143 NM_005143 Approved uc002fbr.4 P00738 ENST00000355906.5:c.650T>C 16.__UNKNOWN__:g.72094218T>C ENSP00000348170:p.Ile217Thr B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67 __UNKNOWN__ CCDS45524.1 . . . . . . . . . . T 9.531 1.110743 0.20714 . . ENSG00000257017 ENST00000355906;ENST00000398131;ENST00000405951;ENST00000357763 D;D 0.87966 -2.32;-2.32 5.21 5.21 0.72293 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 0.208186 0.40908 D 0.000986 D 0.87394 0.6166 L 0.28740 0.885 0.80722 D 1 D;D;B;P 0.71674 0.992;0.998;0.4;0.714 D;D;B;B 0.68483 0.912;0.958;0.226;0.338 D 0.85794 0.1369 10 0.35671 T 0.21 . 9.4481 0.38710 0.1583:0.0:0.0:0.8417 . 39;92;158;217 Q6PEJ8;Q6NSB4;Q0VAC5;P00738 .;.;.;HPT_HUMAN T 217;158;92;193 ENSP00000348170:I217T;ENSP00000381199:I158T ENSP00000348170:I217T I + 2 0 HP 70651719 0.996000 0.38824 0.998000 0.56505 0.921000 0.55340 2.985000 0.49362 2.188000 0.69820 0.482000 0.46254 ATT HP-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000421680.1 + ENST00000355906.5 Missense_Mutation SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5EMNL MAP2K1 5604 broad.mit.edu 37 15 66727443 66727457 + In_Frame_Del DEL TCTTACCCAGAAGCA TCTTACCCAGAAGCA - TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr15:66727443_66727457delTCTTACCCAGAAGCA ENST00000307102.5 + 2.0 690_704 c.159_173delTCTTACCCAGAAGCA c.(157-174)tttcttacccagaagcag>ttg p.53_58FLTQKQ>L NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 53.0 F -> S (in CFC3). {ECO:0000269|PubMed:16439621}. activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728) p.K57N(3)|p.K57T(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20.0 Bosutinib(DB06616)|Trametinib(DB08911) TTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGA 0.553 4 Substitution - Missense(4) lung(2)|autonomic_ganglia(1)|prostate(1) GRCh37 CM076271 MAP2K1 M SO:0001651 inframe_deletion L11284 CCDS10216.1 15q22.1-q22.33 2014-09-17 ENSG00000169032 ENSG00000169032 5604.0 5604.0 2.7.12.2 """Mitogen-activated protein kinase cascade / Kinase kinases""" 6840.0 protein-coding gene gene with protein product 176872 PRKMK1 9465908, 8388392 Standard NM_002755 Approved MEK1, MAPKK1 uc010bhq.3 Q02750 OTTHUMG00000133196 ENST00000307102.5:c.159_173delTCTTACCCAGAAGCA 15.__UNKNOWN__:g.66727443_66727457delTCTTACCCAGAAGCA ENSP00000302486:p.Phe53_Gln58delinsLeu __UNKNOWN__ CCDS10216.1 MAP2K1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256906.4 + ENST00000307102.5 In_Frame_Del DEL PCPG-TCGA-SQ-A6I4-Normal-SM-5EMNL C1orf106 55765 broad.mit.edu 37 1 200881013 200881013 + Frame_Shift_Del DEL G G - TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr1:200881013delG ENST00000413687.2 + 9.0 1753 c.1392delG c.(1390-1392)gagfs p.E464fs C1orf106_ENST00000367342.4_Frame_Shift_Del_p.E549fs NM_001142569.2 NP_001136041.1 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 549.0 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21.0 ACGAGGAGGAGGGCACTCCCC 0.741 0 4.0 5.0 5.0 1 200881013.0 1936.0 3864.0 5800.0 SO:0001589 frameshift_variant AK001763 CCDS44292.1 1q32.1 2011-02-15 ENSG00000163362 ENSG00000163362 55765.0 55765.0 25599.0 protein-coding gene gene with protein product 14702039 Standard NM_018265 NM_018265 Approved FLJ10901 uc001gvo.4 Q3KP66 OTTHUMG00000035789 ENST00000413687.2:c.1392delG 1.__UNKNOWN__:g.200881013delG ENSP00000392105:p.Glu464fs B4E1K9|E9PFY0|Q9NV65|Q9NVI0 __UNKNOWN__ CCDS44292.1 C1orf106-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087058.10 + ENST00000413687.2 Frame_Shift_Del DEL PCPG-TCGA-SQ-A6I4-Normal-SM-5EMNL BRCA2 675 bcgsc.ca 37 13 32953496 32953496 + Missense_Mutation SNP A A T TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr13:32953496A>T ENST00000380152.3 + 22.0 9030 c.8797A>T c.(8797-8799)Agg>Tgg p.R2933W BRCA2_ENST00000544455.1_Missense_Mutation_p.R2933W P51587 BRCA2_HUMAN breast cancer 2, early onset 2933.0 brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283) BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141) gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697) 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) 183.0 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) GAATAATCACAGGCAAATGTT 0.363 """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) Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332) yes Rec yes Hereditary breast/ovarian cancer 13 13q12 675.0 familial breast/ovarian cancer gene 2 """L, E""" 0 97.0 92.0 94.0 13 32953496.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups) U43746 CCDS9344.1 13q12-q13 2014-09-17 2003-10-14 ENSG00000139618 ENSG00000139618 675.0 675.0 """Fanconi anemia, complementation groups""" 1101.0 protein-coding gene gene with protein product """BRCA1/BRCA2-containing complex, subunit 2""" 600185 """Fanconi anemia, complementation group D1""" FANCD1, FACD, FANCD 8091231, 7581463, 15057823 Standard NM_000059 NM_000059 Approved FAD, FAD1, BRCC2 uc001uub.1 P51587 OTTHUMG00000017411 ENST00000380152.3:c.8797A>T 13.__UNKNOWN__:g.32953496A>T ENSP00000369497:p.Arg2933Trp O00183|O15008|Q13879|Q5TBJ7 __UNKNOWN__ CCDS9344.1 . . . . . . . . . . A 26.6 4.751938 0.89753 . . ENSG00000139618 ENST00000380152;ENST00000544455 T;T 0.63744 -0.06;-0.06 5.6 5.6 0.85130 Nucleic acid-binding, OB-fold-like (1); 0.097455 0.64402 D 0.000001 T 0.80265 0.4591 M 0.82517 2.595 0.48975 D 0.999736 D 0.76494 0.999 D 0.69654 0.965 T 0.83188 -0.0085 10 0.66056 D 0.02 . 16.0786 0.80985 1.0:0.0:0.0:0.0 . 2933 P51587 BRCA2_HUMAN W 2933 ENSP00000369497:R2933W;ENSP00000439902:R2933W ENSP00000369497:R2933W R + 1 2 BRCA2 31851496 1.000000 0.71417 0.998000 0.56505 0.958000 0.62258 3.505000 0.53356 2.254000 0.74563 0.460000 0.39030 AGG BRCA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000046000.2 + ENST00000380152.3 Missense_Mutation SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5EMNL SRGAP1 57522 bcgsc.ca 37 12 64519758 64519758 + Missense_Mutation SNP A A T TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr12:64519758A>T ENST00000355086.3 + 19.0 2750 c.2226A>T c.(2224-2226)gaA>gaT p.E742D SRGAP1_ENST00000543397.1_Splice_Site_p.E679D|SRGAP1_ENST00000357825.3_Splice_Site_p.E719D NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 742.0 axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) Rho GTPase activator activity (GO:0005100) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65.0 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) TCGTTGTAGAATGTGAGCCAA 0.483 0 108.0 95.0 99.0 12 64519758.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AB037725 CCDS8967.1 12q13.13 2011-07-04 ENSG00000196935 ENSG00000196935 57522.0 57522.0 """Rho GTPase activating proteins""" 17382.0 protein-coding gene gene with protein product 606523 11672528 Standard NM_020762 Approved KIAA1304, ARHGAP13 uc010ssp.1 Q7Z6B7 OTTHUMG00000168750 ENST00000355086.3:c.2225-1A>T 12.__UNKNOWN__:g.64519758A>T Q9H8A3|Q9P2P2 __UNKNOWN__ CCDS8967.1 . . . . . . . . . . A 16.06 3.014673 0.54468 . . ENSG00000196935 ENST00000355086;ENST00000357825;ENST00000543397 T;T;T 0.21932 2.97;2.56;1.98 5.69 2.01 0.26516 Src homology-3 domain (1); 0.000000 0.35708 U 0.003026 T 0.17874 0.0429 L 0.45744 1.44 0.52501 D 0.999958 B;B 0.17038 0.005;0.02 B;B 0.25291 0.008;0.059 T 0.07177 -1.0786 9 . . . . 9.7532 0.40487 0.7266:0.0:0.2734:0.0 . 742;679 Q7Z6B7;G5EA48 SRGP1_HUMAN;. D 742;719;679 ENSP00000347198:E742D;ENSP00000350480:E719D;ENSP00000437948:E679D . E + 3 2 SRGAP1 62806025 1.000000 0.71417 0.999000 0.59377 0.948000 0.59901 1.717000 0.37991 0.097000 0.17492 -0.375000 0.07067 GAA SRGAP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000400896.1 Missense_Mutation + ENST00000355086.3 Splice_Site SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5EMNL TPST2 8459 bcgsc.ca 37 22 26937050 26937050 + Missense_Mutation SNP G G A TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr22:26937050G>A ENST00000338754.4 - 3.0 817 c.547C>T c.(547-549)Cgg>Tgg p.R183W TPST2_ENST00000398110.2_Missense_Mutation_p.R183W|TPST2_ENST00000403880.1_Missense_Mutation_p.R183W NM_003595.3 NP_003586.3 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 183.0 fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020) protein-tyrosine sulfotransferase activity (GO:0008476) central_nervous_system(1)|large_intestine(1)|lung(5) 7.0 CGGCCGTCCCGCACCATCAGC 0.607 0 86.0 69.0 75.0 22 26937050.0 2203.0 4300.0 6503.0 SO:0001583 missense AF049891 CCDS13839.1 22q12.1 2012-12-13 ENSG00000128294 ENSG00000128294 8459.0 8459.0 2.8.2.20 """Sulfotransferases, membrane-bound""" 12021.0 protein-coding gene gene with protein product """transport and golgi organization 13 homolog B (Drosophila)""" 603126 9736702, 9733778 Standard NM_003595 NM_003595 Approved TANGO13B uc003acx.3 O60704 OTTHUMG00000150987 ENST00000338754.4:c.547C>T 22.__UNKNOWN__:g.26937050G>A ENSP00000339813:p.Arg183Trp B3KQA7|Q6FI98|Q9H0V4 __UNKNOWN__ CCDS13839.1 . . . . . . . . . . G 21.0 4.079586 0.76528 . . ENSG00000128294 ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868 T;T;T 0.79940 -1.32;-1.32;-1.32 5.01 3.98 0.46160 Sulfotransferase domain (1); 0.000000 0.64402 D 0.000003 D 0.92338 0.7569 H 0.96048 3.76 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.93862 0.7154 10 0.87932 D 0 -29.0867 12.8514 0.57860 0.0796:0.0:0.9204:0.0 . 183 O60704 TPST2_HUMAN W 183;183;183;116 ENSP00000339813:R183W;ENSP00000381180:R183W;ENSP00000385192:R183W ENSP00000339813:R183W R - 1 2 TPST2 25267050 1.000000 0.71417 0.951000 0.38953 0.750000 0.42670 5.933000 0.70130 1.099000 0.41499 0.609000 0.83330 CGG TPST2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320820.3 - ENST00000338754.4 Missense_Mutation SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5EMNL DDX10 1662 ucsc.edu 37 11 108593743 108593743 + Missense_Mutation SNP G G A TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr11:108593743G>A ENST00000322536.3 + 13.0 1648 c.1519G>A c.(1519-1521)Gca>Aca p.A507T DDX10_ENST00000526794.1_Missense_Mutation_p.A507T NM_004398.2 NP_004389.2 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 507.0 metabolic process (GO:0008152) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724) breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27.0 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TCTTGCTGTGGCACCACGCGT 0.423 T NUP98 AML* Dom yes 11 11q22-q23 1662.0 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 L 0 40.0 41.0 41.0 11 108593743.0 2201.0 4298.0 6499.0 SO:0001583 missense U28042 CCDS8342.1 11q22-q23 2005-10-11 2003-06-13 ENSG00000178105 ENSG00000178105 1662.0 1662.0 """DEAD-boxes""" 2735.0 protein-coding gene gene with protein product 601235 """DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)""" 8660968 Standard NM_004398 NM_004398 Approved HRH-J8 uc001pkm.3 Q13206 OTTHUMG00000166540 ENST00000322536.3:c.1519G>A 11.__UNKNOWN__:g.108593743G>A ENSP00000314348:p.Ala507Thr B2RCQ3|Q5BJD8 __UNKNOWN__ CCDS8342.1 . . . . . . . . . . G 17.19 3.326470 0.60743 . . ENSG00000178105 ENST00000322536;ENST00000456020;ENST00000526794 T;T 0.45276 0.9;0.91 5.4 5.4 0.78164 . 0.000000 0.85682 D 0.000000 T 0.46190 0.1380 L 0.46567 1.45 0.58432 D 0.999997 B;B 0.34103 0.437;0.437 P;B 0.44447 0.45;0.326 T 0.17992 -1.0351 10 0.13853 T 0.58 -14.3863 17.7149 0.88333 0.0:0.0:1.0:0.0 . 507;507 Q13206;E9PIF2 DDX10_HUMAN;. T 507;413;507 ENSP00000314348:A507T;ENSP00000432032:A507T ENSP00000314348:A507T A + 1 0 DDX10 108098953 1.000000 0.71417 1.000000 0.80357 0.982000 0.71751 6.453000 0.73488 2.697000 0.92050 0.555000 0.69702 GCA DDX10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390343.1 + ENST00000322536.3 Missense_Mutation SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5EMNL MACF1 23499 ucsc.edu 37 1 39898778 39898778 + Missense_Mutation SNP G G A rs139726571 TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr1:39898778G>A ENST00000372915.3 + 66.0 17291 c.17204G>A c.(17203-17205)cGt>cAt p.R5735H MACF1_ENST00000361689.2_Missense_Mutation_p.R3777H|MACF1_ENST00000567887.1_Missense_Mutation_p.R5876H|MACF1_ENST00000545844.1_Missense_Mutation_p.R3777H|MACF1_ENST00000289893.4_Missense_Mutation_p.R4279H|MACF1_ENST00000539005.1_Missense_Mutation_p.R3647H|MACF1_ENST00000317713.7_Missense_Mutation_p.R3777H|MACF1_ENST00000564288.1_Missense_Mutation_p.R5839H Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5735.0 ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587) actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822) 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) 203.0 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) TTCAGTCACCGTAGTGAAATC 0.348 0 82.0 82.0 82.0 1 39898778.0 2203.0 4300.0 6503.0 SO:0001583 missense AB007934 CCDS435.1 1p32-p31 2013-01-10 ENSG00000127603 ENSG00000127603 23499.0 23499.0 """EF-hand domain containing""" 13664.0 protein-coding gene gene with protein product """actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7""" 608271 7635207, 10529403 Standard NM_033044 NM_012090 Approved KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776 uc031pmc.1 Q9UPN3 OTTHUMG00000007754 ENST00000372915.3:c.17204G>A 1.__UNKNOWN__:g.39898778G>A ENSP00000362006:p.Arg5735His B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9 __UNKNOWN__ . . . . . . . . . . G 29.8 5.033366 0.93575 . . ENSG00000127603 ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893 T;T;T;T;T;T 0.51325 1.38;1.35;1.38;0.71;1.38;1.38 5.77 5.77 0.91146 . 0.099783 0.44902 D 0.000413 T 0.57080 0.2029 L 0.34521 1.04 0.80722 D 1 D;D;D 0.89917 1.0;0.999;0.999 D;D;D 0.75020 0.985;0.949;0.949 T 0.58429 -0.7638 10 0.72032 D 0.01 . 13.2273 0.59922 0.0725:0.0:0.9275:0.0 . 5735;3777;3721 Q9UPN3;F8W8Q1;Q9UPN3-3 MACF1_HUMAN;.;. H 3777;5735;3777;3777;3647;4279 ENSP00000439537:R3777H;ENSP00000362006:R5735H;ENSP00000354573:R3777H;ENSP00000313438:R3777H;ENSP00000444364:R3647H;ENSP00000289893:R4279H ENSP00000289893:R4279H R + 2 0 MACF1 39671365 1.000000 0.71417 0.999000 0.59377 0.995000 0.86356 7.204000 0.77872 2.744000 0.94065 0.561000 0.74099 CGT MACF1-028 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000392096.1 + ENST00000372915.3 Missense_Mutation SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5EMNL TRIM32 22954 hgsc.bcm.edu 37 9 119461190 119461190 + Missense_Mutation SNP G G A rs146094774 TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq fe7f0f4e-0379-466c-88ed-acd18efae6d4 1c3306d6-8c60-4750-a3df-72c2d355a6a4 g.chr9:119461190G>A ENST00000450136.1 + 2.0 1330 c.1169G>A c.(1168-1170)cGt>cAt p.R390H ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R390H|ASTN2_ENST00000361209.2_Intron NM_001099679.1|NM_012210.3 NP_001093149.1|NP_036342.2 Q13049 TRI32_HUMAN tripartite motif containing 32 390.0 fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863) ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 26.0 GTCGCTGACCGTGGTAACTAT 0.493 Esophageal Squamous(92;212 1916 19711 26951) 0 G HIS/ARG,HIS/ARG, 0,4406 0,0,2203 80.0 81.0 81.0 1169,1169, 5.5 1.0 9 dbSNP_134 81.0 1,8599 1.2+/-3.3 0,1,4299 no missense,missense,intron TRIM32,ASTN2 NM_001099679.1,NM_012210.3,NM_014010.4 29,29, 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 probably-damaging,probably-damaging, 390/654,390/654, 119461190.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense U18543 CCDS6817.1 9q33.1 2014-09-17 2011-01-25 ENSG00000119401 ENSG00000119401 22954.0 22954.0 """Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers""" 16380.0 protein-coding gene gene with protein product 602290 """limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32""" LGMD2H 11331580, 7778269, 16606853 Standard NM_012210 NM_001099679 Approved HT2A, TATIP, BBS11 uc004bjx.2 Q13049 OTTHUMG00000021026 ENST00000450136.1:c.1169G>A 9.__UNKNOWN__:g.119461190G>A ENSP00000408292:p.Arg390His Q9NQP8 __UNKNOWN__ CCDS6817.1 . . . . . . . . . . G 20.7 4.030329 0.75504 0.0 1.16E-4 ENSG00000119401 ENST00000450136;ENST00000373983 T;T 0.73047 -0.71;-0.71 5.47 5.47 0.80525 Six-bladed beta-propeller, TolB-like (1); 0.000000 0.64402 D 0.000001 T 0.78298 0.4261 L 0.59967 1.855 0.80722 D 1 D 0.71674 0.998 P 0.54759 0.76 T 0.77264 -0.2652 9 . . . -6.0872 19.3288 0.94275 0.0:0.0:1.0:0.0 . 390 Q13049 TRI32_HUMAN H 390 ENSP00000408292:R390H;ENSP00000363095:R390H . R + 2 0 TRIM32 118501011 1.000000 0.71417 0.997000 0.53966 0.979000 0.70002 9.434000 0.97515 2.551000 0.86045 0.650000 0.86243 CGT TRIM32-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055466.2 + ENST00000450136.1 Missense_Mutation SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5EMNL ANGEL1 23357 broad.mit.edu 37 14 77275462 77275462 + Missense_Mutation SNP T T C TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr14:77275462T>C ENST00000251089.2 - 2.0 701 c.589A>G c.(589-591)Atc>Gtc p.I197V NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 197.0 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22.0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) AAGGGCCAGATGGAAGCCTCT 0.612 0 42.0 40.0 40.0 14 77275462.0 2203.0 4300.0 6503.0 SO:0001583 missense AF111169 CCDS9852.1 14q24.3 2014-06-17 2005-08-04 ENSG00000013523 ENSG00000013523 23357.0 23357.0 19961.0 protein-coding gene gene with protein product KIAA0759 11943475 Standard NM_015305 NM_015305 Approved Ccr4e uc001xsv.3 Q9UNK9 OTTHUMG00000171494 ENST00000251089.2:c.589A>G 14.__UNKNOWN__:g.77275462T>C ENSP00000251089:p.Ile197Val B4DWL7|O94859|Q8NCS9 __UNKNOWN__ CCDS9852.1 . . . . . . . . . . T 3.428 -0.116698 0.06838 . . ENSG00000013523 ENST00000251089 T 0.21543 2.0 5.6 -3.43 0.04810 . 1.450350 0.03704 N 0.249089 T 0.08714 0.0216 N 0.03608 -0.345 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.32824 -0.9892 10 0.11485 T 0.65 0.0062 9.1402 0.36899 0.0:0.5581:0.1255:0.3164 . 197 Q9UNK9 ANGE1_HUMAN V 197 ENSP00000251089:I197V ENSP00000251089:I197V I - 1 0 ANGEL1 76345215 0.017000 0.18338 0.381000 0.26106 0.907000 0.53573 0.106000 0.15354 -0.707000 0.05022 -1.148000 0.01847 ATC ANGEL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000413712.2 - ENST00000251089.2 Missense_Mutation SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5FLS9 CD82 3732 broad.mit.edu 37 11 44640634 44640634 + Silent SNP G G A TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr11:44640634G>A ENST00000227155.4 + 10.0 1010 c.762G>A c.(760-762)cgG>cgA p.R254R CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Silent_p.R229R NM_002231.3 NP_002222.1 P27701 CD82_HUMAN CD82 molecule 254.0 extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) large_intestine(1)|ovary(1) 2.0 GCTTGTGCCGGCACGTCCATT 0.652 0 148.0 124.0 132.0 11 44640634.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant U20770 CCDS7909.1, CCDS31469.1 11p11.2 2013-02-14 2006-03-28 2005-03-03 ENSG00000085117 3732.0 3732.0 """CD molecules"", ""Tetraspanins""" 6210.0 protein-coding gene gene with protein product """suppression of tumorigenicity 6"", ""R2 leukocyte antigen""" 600623 """kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))"", ""CD82 antigen""" ST6, KAI1 Standard XM_006718222 Approved R2, IA4, TSPAN27 uc001myc.3 P27701 ENST00000227155.4:c.762G>A 11.__UNKNOWN__:g.44640634G>A D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2 __UNKNOWN__ CCDS7909.1 CD82-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389886.1 + ENST00000227155.4 Silent SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5FLS9 ARHGEF17 9828 broad.mit.edu 37 11 73021126 73021126 + Silent SNP C C T rs145219831 TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr11:73021126C>T ENST00000263674.3 + 1.0 1793 c.1443C>T c.(1441-1443)gaC>gaT p.D481D NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 481.0 actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32.0 TGCGCTCAGACCTTTCAGAGC 0.577 0 C 1,4399 2.1+/-5.4 0,1,2199 64.0 71.0 68.0 1443 0.5 1.0 11 dbSNP_134 68.0 5,8581 4.3+/-15.6 0,5,4288 yes coding-synonymous ARHGEF17 NM_014786.3 0,6,6487 TT,TC,CC 0.0582,0.0227,0.0462 481/2064 73021126.0 6,12980 2200.0 4293.0 6493.0 SO:0001819 synonymous_variant AF378754 CCDS8221.1 11q13.3 2011-11-16 ENSG00000110237 ENSG00000110237 9828.0 9828.0 """Rho guanine nucleotide exchange factors""" 21726.0 protein-coding gene gene with protein product """Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4""" 11559528, 12071859 Standard NM_014786 NM_014786 Approved TEM4, KIAA0337, p164-RhoGEF uc001otu.3 Q96PE2 OTTHUMG00000167971 ENST00000263674.3:c.1443C>T 11.__UNKNOWN__:g.73021126C>T B2RP20|Q86XU2|Q8N2S0|Q9Y4G3 __UNKNOWN__ CCDS8221.1 ARHGEF17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000397365.1 + ENST00000263674.3 Silent SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5FLS9 SOCS5 0 broad.mit.edu 37 2 46986916 46986916 + Missense_Mutation SNP C C A TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr2:46986916C>A ENST00000306503.5 + 2.0 1419 c.1247C>A c.(1246-1248)tCt>tAt p.S416Y SOCS5_ENST00000394861.2_Missense_Mutation_p.S416Y NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 416.0 SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}. cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008) receptor tyrosine kinase binding (GO:0030971) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22.0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) TACCTCTTCTCTGTGAGCTTC 0.527 0 82.0 80.0 80.0 2 46986916.0 2203.0 4300.0 6503.0 SO:0001583 missense AB014571 CCDS1830.1 2p21 2013-02-14 ENSG00000171150 ENSG00000171150 9655.0 """Suppressors of cytokine signaling"", ""SH2 domain containing""" 16852.0 protein-coding gene gene with protein product 607094 9734811, 11230166 Standard NM_014011 Approved KIAA0671, SOCS-5, CIS6, CISH6, Cish5 uc002rvf.3 O75159 OTTHUMG00000128852 ENST00000306503.5:c.1247C>A 2.__UNKNOWN__:g.46986916C>A ENSP00000305133:p.Ser416Tyr Q53SD4|Q8IYZ4 __UNKNOWN__ CCDS1830.1 . . . . . . . . . . C 21.0 4.078332 0.76528 . . ENSG00000171150 ENST00000306503;ENST00000394861 D;D 0.89617 -2.54;-2.54 5.43 5.43 0.79202 SH2 motif (4); 0.051815 0.85682 D 0.000000 D 0.96300 0.8793 H 0.94925 3.6 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.96928 0.9679 10 0.87932 D 0 -20.6106 19.0206 0.92912 0.0:1.0:0.0:0.0 . 416 O75159 SOCS5_HUMAN Y 416 ENSP00000305133:S416Y;ENSP00000378330:S416Y ENSP00000305133:S416Y S + 2 0 SOCS5 46840420 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.651000 0.83577 2.824000 0.97209 0.655000 0.94253 TCT SOCS5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250791.2 + ENST00000306503.5 Missense_Mutation SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5FLS9 PML 5371 broad.mit.edu 37 15 74336715 74336715 + Missense_Mutation SNP C C G TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr15:74336715C>G ENST00000268058.3 + 9.0 2111 c.2015C>G c.(2014-2016)cCt>cGt p.P672R PML_ENST00000565898.1_Missense_Mutation_p.P624R NM_033238.2 NP_150241.2 P29590 PML_HUMAN promyelocytic leukemia 672.0 activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605) cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) 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) 31.0 ATGCGCCGCCCTATCTTGGCC 0.602 T """RARA, PAX5""" """APL, ALL""" Dom yes 15 15q22 5371.0 promyelocytic leukemia L 0 55.0 56.0 55.0 15 74336715.0 2198.0 4297.0 6495.0 SO:0001583 missense AB208950 CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1 15q24.1 2011-04-21 ENSG00000140464 ENSG00000140464 5371.0 5371.0 """Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers""" 9113.0 protein-coding gene gene with protein product 102578 Standard NM_002675 NM_033244 Approved MYL, TRIM19, RNF71 uc002awv.3 P29590 OTTHUMG00000137607 ENST00000268058.3:c.2015C>G 15.__UNKNOWN__:g.74336715C>G ENSP00000268058:p.Pro672Arg E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3 __UNKNOWN__ CCDS10255.1 . . . . . . . . . . C 17.75 3.467297 0.63625 . . ENSG00000140464 ENST00000268058;ENST00000417341;ENST00000418568 T 0.67171 -0.25 5.18 5.18 0.71444 . 0.000000 0.49916 D 0.000127 T 0.74839 0.3769 L 0.36672 1.1 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 0.999;1.0 T 0.76958 -0.2766 10 0.87932 D 0 -39.3202 15.543 0.76070 0.0:1.0:0.0:0.0 . 672;624 P29590;P29590-11 PML_HUMAN;. R 672;233;655 ENSP00000268058:P672R ENSP00000268058:P672R P + 2 0 PML 72123768 0.839000 0.29477 0.891000 0.34965 0.908000 0.53690 2.913000 0.48790 2.685000 0.91497 0.563000 0.77884 CCT PML-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269021.3 + ENST00000268058.3 Missense_Mutation SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5FLS9 HP 3240 broad.mit.edu 37 16 72094218 72094218 + Missense_Mutation SNP T T C TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr16:72094218T>C ENST00000355906.5 + 7.0 708 c.650T>C c.(649-651)aTt>aCt p.I217T HP_ENST00000398131.2_Missense_Mutation_p.I158T|HP_ENST00000570083.1_Missense_Mutation_p.I158T|HP_ENST00000357763.4_Missense_Mutation_p.I253T|HP_ENST00000565574.1_Missense_Mutation_p.I158T|HP_ENST00000562526.1_Intron|HPR_ENST00000356967.5_Intron NM_005143.3 NP_005134.1 P00738 HPT_HUMAN haptoglobin 217.0 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542) blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838) antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7.0 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) GCGAAAGACATTGCCCCTACT 0.453 0 65.0 63.0 64.0 16 72094218.0 1900.0 4120.0 6020.0 SO:0001583 missense CCDS45524.1, CCDS45525.1 16q22.2 2012-10-02 ENSG00000257017 ENSG00000257017 3240.0 3240.0 5141.0 protein-coding gene gene with protein product 140100 11109501, 9352226 Standard NM_005143 NM_005143 Approved uc002fbr.4 P00738 ENST00000355906.5:c.650T>C 16.__UNKNOWN__:g.72094218T>C ENSP00000348170:p.Ile217Thr B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67 __UNKNOWN__ CCDS45524.1 . . . . . . . . . . T 9.531 1.110743 0.20714 . . ENSG00000257017 ENST00000355906;ENST00000398131;ENST00000405951;ENST00000357763 D;D 0.87966 -2.32;-2.32 5.21 5.21 0.72293 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 0.208186 0.40908 D 0.000986 D 0.87394 0.6166 L 0.28740 0.885 0.80722 D 1 D;D;B;P 0.71674 0.992;0.998;0.4;0.714 D;D;B;B 0.68483 0.912;0.958;0.226;0.338 D 0.85794 0.1369 10 0.35671 T 0.21 . 9.4481 0.38710 0.1583:0.0:0.0:0.8417 . 39;92;158;217 Q6PEJ8;Q6NSB4;Q0VAC5;P00738 .;.;.;HPT_HUMAN T 217;158;92;193 ENSP00000348170:I217T;ENSP00000381199:I158T ENSP00000348170:I217T I + 2 0 HP 70651719 0.996000 0.38824 0.998000 0.56505 0.921000 0.55340 2.985000 0.49362 2.188000 0.69820 0.482000 0.46254 ATT HP-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000421680.1 + ENST00000355906.5 Missense_Mutation SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5FLS9 MAP2K1 5604 broad.mit.edu 37 15 66727443 66727457 + In_Frame_Del DEL TCTTACCCAGAAGCA TCTTACCCAGAAGCA - TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr15:66727443_66727457delTCTTACCCAGAAGCA ENST00000307102.5 + 2.0 690_704 c.159_173delTCTTACCCAGAAGCA c.(157-174)tttcttacccagaagcag>ttg p.53_58FLTQKQ>L NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 53.0 F -> S (in CFC3). {ECO:0000269|PubMed:16439621}. activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728) p.K57N(3)|p.K57T(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20.0 Bosutinib(DB06616)|Trametinib(DB08911) TTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGA 0.553 4 Substitution - Missense(4) lung(2)|autonomic_ganglia(1)|prostate(1) GRCh37 CM076271 MAP2K1 M SO:0001651 inframe_deletion L11284 CCDS10216.1 15q22.1-q22.33 2014-09-17 ENSG00000169032 ENSG00000169032 5604.0 5604.0 2.7.12.2 """Mitogen-activated protein kinase cascade / Kinase kinases""" 6840.0 protein-coding gene gene with protein product 176872 PRKMK1 9465908, 8388392 Standard NM_002755 Approved MEK1, MAPKK1 uc010bhq.3 Q02750 OTTHUMG00000133196 ENST00000307102.5:c.159_173delTCTTACCCAGAAGCA 15.__UNKNOWN__:g.66727443_66727457delTCTTACCCAGAAGCA ENSP00000302486:p.Phe53_Gln58delinsLeu __UNKNOWN__ CCDS10216.1 MAP2K1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256906.4 + ENST00000307102.5 In_Frame_Del DEL PCPG-TCGA-SQ-A6I4-Normal-SM-5FLS9 DDX10 1662 ucsc.edu 37 11 108593743 108593743 + Missense_Mutation SNP G G A TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 G G Unknown Untested Somatic WXS none Illumina HiSeq fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr11:108593743G>A ENST00000322536.3 + 13.0 1648 c.1519G>A c.(1519-1521)Gca>Aca p.A507T DDX10_ENST00000526794.1_Missense_Mutation_p.A507T NM_004398.2 NP_004389.2 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 507.0 metabolic process (GO:0008152) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724) breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27.0 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TCTTGCTGTGGCACCACGCGT 0.423 T NUP98 AML* Dom yes 11 11q22-q23 1662.0 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 L 0 40.0 41.0 41.0 11 108593743.0 2201.0 4298.0 6499.0 SO:0001583 missense U28042 CCDS8342.1 11q22-q23 2005-10-11 2003-06-13 ENSG00000178105 ENSG00000178105 1662.0 1662.0 """DEAD-boxes""" 2735.0 protein-coding gene gene with protein product 601235 """DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)""" 8660968 Standard NM_004398 NM_004398 Approved HRH-J8 uc001pkm.3 Q13206 OTTHUMG00000166540 ENST00000322536.3:c.1519G>A 11.__UNKNOWN__:g.108593743G>A ENSP00000314348:p.Ala507Thr B2RCQ3|Q5BJD8 __UNKNOWN__ CCDS8342.1 . . . . . . . . . . G 17.19 3.326470 0.60743 . . ENSG00000178105 ENST00000322536;ENST00000456020;ENST00000526794 T;T 0.45276 0.9;0.91 5.4 5.4 0.78164 . 0.000000 0.85682 D 0.000000 T 0.46190 0.1380 L 0.46567 1.45 0.58432 D 0.999997 B;B 0.34103 0.437;0.437 P;B 0.44447 0.45;0.326 T 0.17992 -1.0351 10 0.13853 T 0.58 -14.3863 17.7149 0.88333 0.0:0.0:1.0:0.0 . 507;507 Q13206;E9PIF2 DDX10_HUMAN;. T 507;413;507 ENSP00000314348:A507T;ENSP00000432032:A507T ENSP00000314348:A507T A + 1 0 DDX10 108098953 1.000000 0.71417 1.000000 0.80357 0.982000 0.71751 6.453000 0.73488 2.697000 0.92050 0.555000 0.69702 GCA DDX10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390343.1 + ENST00000322536.3 Missense_Mutation SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5FLS9 MACF1 23499 ucsc.edu 37 1 39898778 39898778 + Missense_Mutation SNP G G A rs139726571 TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 G G Unknown Untested Somatic WXS none Illumina HiSeq fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr1:39898778G>A ENST00000372915.3 + 66.0 17291 c.17204G>A c.(17203-17205)cGt>cAt p.R5735H MACF1_ENST00000361689.2_Missense_Mutation_p.R3777H|MACF1_ENST00000567887.1_Missense_Mutation_p.R5876H|MACF1_ENST00000545844.1_Missense_Mutation_p.R3777H|MACF1_ENST00000289893.4_Missense_Mutation_p.R4279H|MACF1_ENST00000539005.1_Missense_Mutation_p.R3647H|MACF1_ENST00000317713.7_Missense_Mutation_p.R3777H|MACF1_ENST00000564288.1_Missense_Mutation_p.R5839H Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5735.0 ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587) actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822) 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) 203.0 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) TTCAGTCACCGTAGTGAAATC 0.348 0 82.0 82.0 82.0 1 39898778.0 2203.0 4300.0 6503.0 SO:0001583 missense AB007934 CCDS435.1 1p32-p31 2013-01-10 ENSG00000127603 ENSG00000127603 23499.0 23499.0 """EF-hand domain containing""" 13664.0 protein-coding gene gene with protein product """actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7""" 608271 7635207, 10529403 Standard NM_033044 NM_012090 Approved KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776 uc031pmc.1 Q9UPN3 OTTHUMG00000007754 ENST00000372915.3:c.17204G>A 1.__UNKNOWN__:g.39898778G>A ENSP00000362006:p.Arg5735His B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9 __UNKNOWN__ . . . . . . . . . . G 29.8 5.033366 0.93575 . . ENSG00000127603 ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893 T;T;T;T;T;T 0.51325 1.38;1.35;1.38;0.71;1.38;1.38 5.77 5.77 0.91146 . 0.099783 0.44902 D 0.000413 T 0.57080 0.2029 L 0.34521 1.04 0.80722 D 1 D;D;D 0.89917 1.0;0.999;0.999 D;D;D 0.75020 0.985;0.949;0.949 T 0.58429 -0.7638 10 0.72032 D 0.01 . 13.2273 0.59922 0.0725:0.0:0.9275:0.0 . 5735;3777;3721 Q9UPN3;F8W8Q1;Q9UPN3-3 MACF1_HUMAN;.;. H 3777;5735;3777;3777;3647;4279 ENSP00000439537:R3777H;ENSP00000362006:R5735H;ENSP00000354573:R3777H;ENSP00000313438:R3777H;ENSP00000444364:R3647H;ENSP00000289893:R4279H ENSP00000289893:R4279H R + 2 0 MACF1 39671365 1.000000 0.71417 0.999000 0.59377 0.995000 0.86356 7.204000 0.77872 2.744000 0.94065 0.561000 0.74099 CGT MACF1-028 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000392096.1 + ENST00000372915.3 Missense_Mutation SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5FLS9 TRIM32 22954 hgsc.bcm.edu 37 9 119461190 119461190 + Missense_Mutation SNP G G A rs146094774 TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-11A-11D-A35I-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq fe7f0f4e-0379-466c-88ed-acd18efae6d4 89317873-c294-4d2a-8c09-7010dc095a7d g.chr9:119461190G>A ENST00000450136.1 + 2.0 1330 c.1169G>A c.(1168-1170)cGt>cAt p.R390H ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R390H|ASTN2_ENST00000361209.2_Intron NM_001099679.1|NM_012210.3 NP_001093149.1|NP_036342.2 Q13049 TRI32_HUMAN tripartite motif containing 32 390.0 fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863) ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 26.0 GTCGCTGACCGTGGTAACTAT 0.493 Esophageal Squamous(92;212 1916 19711 26951) 0 G HIS/ARG,HIS/ARG, 0,4406 0,0,2203 80.0 81.0 81.0 1169,1169, 5.5 1.0 9 dbSNP_134 81.0 1,8599 1.2+/-3.3 0,1,4299 no missense,missense,intron TRIM32,ASTN2 NM_001099679.1,NM_012210.3,NM_014010.4 29,29, 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 probably-damaging,probably-damaging, 390/654,390/654, 119461190.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense U18543 CCDS6817.1 9q33.1 2014-09-17 2011-01-25 ENSG00000119401 ENSG00000119401 22954.0 22954.0 """Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers""" 16380.0 protein-coding gene gene with protein product 602290 """limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32""" LGMD2H 11331580, 7778269, 16606853 Standard NM_012210 NM_001099679 Approved HT2A, TATIP, BBS11 uc004bjx.2 Q13049 OTTHUMG00000021026 ENST00000450136.1:c.1169G>A 9.__UNKNOWN__:g.119461190G>A ENSP00000408292:p.Arg390His Q9NQP8 __UNKNOWN__ CCDS6817.1 . . . . . . . . . . G 20.7 4.030329 0.75504 0.0 1.16E-4 ENSG00000119401 ENST00000450136;ENST00000373983 T;T 0.73047 -0.71;-0.71 5.47 5.47 0.80525 Six-bladed beta-propeller, TolB-like (1); 0.000000 0.64402 D 0.000001 T 0.78298 0.4261 L 0.59967 1.855 0.80722 D 1 D 0.71674 0.998 P 0.54759 0.76 T 0.77264 -0.2652 9 . . . -6.0872 19.3288 0.94275 0.0:0.0:1.0:0.0 . 390 Q13049 TRI32_HUMAN H 390 ENSP00000408292:R390H;ENSP00000363095:R390H . R + 2 0 TRIM32 118501011 1.000000 0.71417 0.997000 0.53966 0.979000 0.70002 9.434000 0.97515 2.551000 0.86045 0.650000 0.86243 CGT TRIM32-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055466.2 + ENST00000450136.1 Missense_Mutation SNP PCPG-TCGA-SQ-A6I4-Normal-SM-5FLS9 FAM83A 84985 broad.mit.edu 37 8 124195302 124195302 + Missense_Mutation SNP A A G TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr8:124195302A>G ENST00000518448.1 + 2.0 2220 c.206A>G c.(205-207)cAg>cGg p.Q69R FAM83A_ENST00000276699.6_Missense_Mutation_p.Q69R|FAM83A_ENST00000546351.1_Missense_Mutation_p.Q69R|FAM83A_ENST00000318462.6_Missense_Mutation_p.Q69R|FAM83A_ENST00000536633.1_Missense_Mutation_p.Q69R|FAM83A_ENST00000522648.1_Missense_Mutation_p.Q69R Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A 69.0 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17.0 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) GTGGAGGCCCAGTACATCCAG 0.677 0 45.0 40.0 41.0 8 124195302.0 2203.0 4300.0 6503.0 SO:0001583 missense BC052300 CCDS6339.1, CCDS6340.1, CCDS75784.1 8q24.13 2014-03-13 ENSG00000147689 ENSG00000147689 84985.0 84985.0 28210.0 protein-coding gene gene with protein product 22886303 Standard NM_032899 XM_005251087 Approved MGC14128, BJ-TSA-9 uc003ypx.3 Q86UY5 OTTHUMG00000165083 ENST00000518448.1:c.206A>G 8.__UNKNOWN__:g.124195302A>G ENSP00000428876:p.Gln69Arg Q71HL2|Q8N7I1|Q96I47 __UNKNOWN__ CCDS6340.1 . . . . . . . . . . A 12.83 2.056697 0.36277 . . ENSG00000147689 ENST00000518448;ENST00000546351;ENST00000536633;ENST00000318462;ENST00000522648;ENST00000276699 T;T;T;T;T;T 0.11169 2.8;2.94;2.8;2.8;2.94;2.8 5.36 3.04 0.35103 . 0.387988 0.28047 N 0.016812 T 0.05273 0.0140 N 0.12471 0.22 0.30547 N 0.765902 B;B;B 0.12630 0.004;0.004;0.006 B;B;B 0.14578 0.006;0.006;0.011 T 0.25502 -1.0130 10 0.10902 T 0.67 -27.463 9.9861 0.41843 0.8264:0.0:0.1736:0.0 . 69;69;69 Q86UY5-2;Q86UY5-3;Q86UY5 .;.;FA83A_HUMAN R 69 ENSP00000428876:Q69R;ENSP00000440565:Q69R;ENSP00000445218:Q69R;ENSP00000323034:Q69R;ENSP00000427979:Q69R;ENSP00000276699:Q69R ENSP00000276699:Q69R Q + 2 0 FAM83A 124264483 0.016000 0.18221 1.000000 0.80357 0.988000 0.76386 1.120000 0.31271 2.013000 0.59113 0.459000 0.35465 CAG FAM83A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381737.1 + ENST00000518448.1 Missense_Mutation SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU SGSM1 129049 broad.mit.edu 37 22 25243680 25243680 + Silent SNP C C G TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr22:25243680C>G ENST00000400358.4 + 4.0 276 c.219C>G c.(217-219)ctC>ctG p.L73L SGSM1_ENST00000400359.4_Silent_p.L73L NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 73.0 RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}. Golgi apparatus (GO:0005794) Rab GTPase activator activity (GO:0005097) 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) 41.0 TTGCAGCCCTCTTTATGAAAG 0.617 0 23.0 25.0 25.0 22 25243680.0 1974.0 4161.0 6135.0 SO:0001819 synonymous_variant AB075821 CCDS46674.1, CCDS46675.1, CCDS74834.1 22q11.23 2013-07-09 2007-08-14 2007-08-14 ENSG00000167037 ENSG00000167037 129049.0 129049.0 """Small G protein signaling modulators""" 29410.0 protein-coding gene gene with protein product 611417 """RUN and TBC1 domain containing 2""" RUTBC2 11853319, 17509819, 22637480 Standard XM_059318 NM_133454 Approved KIAA1941 uc003abg.2 Q2NKQ1 OTTHUMG00000150837 ENST00000400358.4:c.219C>G 22.__UNKNOWN__:g.25243680C>G A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60 __UNKNOWN__ CCDS46675.1 SGSM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320279.1 + ENST00000400358.4 Silent SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU RBBP5 5929 broad.mit.edu 37 1 205070793 205070793 + Missense_Mutation SNP G G C TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr1:205070793G>C ENST00000264515.6 - 6.0 708 c.567C>G c.(565-567)ttC>ttG p.F189L RBBP5_ENST00000367164.1_Missense_Mutation_p.F189L NM_001193273.1|NM_005057.3 NP_001180202.1|NP_005048.2 Q15291 RBBP5_HUMAN retinoblastoma binding protein 5 189.0 cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188) methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212) cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 27.0 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) TTGTCACTCTGAAGGAAGCAA 0.393 0 192.0 191.0 191.0 1 205070793.0 2203.0 4300.0 6503.0 SO:0001583 missense BC053856 CCDS30983.1, CCDS53463.1 1q32 2013-01-10 2001-11-28 ENSG00000117222 ENSG00000117222 5929.0 5929.0 """WD repeat domain containing""" 9888.0 protein-coding gene gene with protein product """SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)""" 600697 """retinoblastoma-binding protein 5""" 7558034 Standard NM_005057 NM_005057 Approved RBQ3, SWD1 uc001hbu.2 Q15291 OTTHUMG00000037104 ENST00000264515.6:c.567C>G 1.__UNKNOWN__:g.205070793G>C ENSP00000264515:p.Phe189Leu A8K272|Q7Z6D8|Q8NDZ7 __UNKNOWN__ CCDS30983.1 . . . . . . . . . . G 27.3 4.820810 0.90873 . . ENSG00000117222 ENST00000264515;ENST00000367164 T;T 0.19806 2.12;2.12 5.78 5.78 0.91487 WD40/YVTN repeat-like-containing domain (1); 0.000000 0.85682 D 0.000000 T 0.33206 0.0855 M 0.64567 1.98 0.80722 D 1 P;B;P;P 0.51057 0.849;0.275;0.633;0.941 P;B;B;P 0.49421 0.61;0.164;0.417;0.577 T 0.01972 -1.1237 10 0.17369 T 0.5 . 19.6763 0.95934 0.0:0.0:1.0:0.0 . 62;224;189;189 B4DLF8;B4DMM7;Q15291-2;Q15291 .;.;.;RBBP5_HUMAN L 189 ENSP00000264515:F189L;ENSP00000356132:F189L ENSP00000264515:F189L F - 3 2 RBBP5 203337416 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 6.524000 0.73791 2.744000 0.94065 0.586000 0.80456 TTC RBBP5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090077.1 - ENST00000264515.6 Missense_Mutation SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU FLG2 388698 broad.mit.edu 37 1 152326017 152326017 + Missense_Mutation SNP C C A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr1:152326017C>A ENST00000388718.5 - 3.0 4317 c.4245G>T c.(4243-4245)agG>agT p.R1415S FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1415.0 establishment of skin barrier (GO:0061436) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198) 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) 188.0 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCAGTTGTCCTGGACCCTC 0.527 0 268.0 254.0 259.0 1 152326017.0 2203.0 4300.0 6503.0 SO:0001583 missense AY827490 CCDS30861.1 1q21.3 2013-01-10 ENSG00000143520 ENSG00000143520 388698.0 388698.0 """EF-hand domain containing""" 33276.0 protein-coding gene gene with protein product 12477932 Standard NM_001014342 NM_001014342 Approved IFPS uc001ezw.4 Q5D862 OTTHUMG00000012245 ENST00000388718.5:c.4245G>T 1.__UNKNOWN__:g.152326017C>A ENSP00000373370:p.Arg1415Ser Q9H4U1 __UNKNOWN__ CCDS30861.1 . . . . . . . . . . C 1.080 -0.667351 0.03428 . . ENSG00000143520 ENST00000388718 T 0.03663 3.85 3.86 -7.71 0.01254 . . . . . T 0.00328 0.0010 N 0.08118 0 0.09310 N 1 B 0.15930 0.015 B 0.04013 0.001 T 0.47886 -0.9082 9 0.07325 T 0.83 0.4423 1.4492 0.02371 0.1718:0.1676:0.3822:0.2784 . 1415 Q5D862 FILA2_HUMAN S 1415 ENSP00000373370:R1415S ENSP00000373370:R1415S R - 3 2 FLG2 150592641 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -10.701000 0.00005 -2.959000 0.00290 -0.514000 0.04452 AGG FLG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000034018.5 - ENST00000388718.5 Missense_Mutation SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU MBD5 0 broad.mit.edu 37 2 149227911 149227911 + Missense_Mutation SNP G G A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr2:149227911G>A ENST00000407073.1 + 9.0 3396 c.2399G>A c.(2398-2400)gGc>gAc p.G800D MBD5_ENST00000404807.1_Missense_Mutation_p.G800D NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 800.0 glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708) chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) chromatin binding (GO:0003682) 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) 62.0 BRCA - Breast invasive adenocarcinoma(221;0.0569) AGTCAGTCGGGCATGGCTTTA 0.453 G 1.0 0.0005 0.0028 2184.0 0.9999 , , 0.0003 0.0005 0.9135 EXOME 0.0006 SNP 0 123.0 115.0 118.0 2 149227911.0 2203.0 4300.0 6503.0 SO:0001583 missense AB040894 CCDS33302.1 2q23.2 2009-04-17 ENSG00000204406 ENSG00000204406 55777.0 20444.0 protein-coding gene gene with protein product 611472 12529184 Standard NM_018328 Approved FLJ11113, KIAA1461 uc002twm.4 Q9P267 OTTHUMG00000150440 ENST00000407073.1:c.2399G>A 2.__UNKNOWN__:g.149227911G>A ENSP00000386049:p.Gly800Asp A5HMQ4|A7E2B1|Q53SR1|Q9NUV6 __UNKNOWN__ CCDS33302.1 1|1 4.578754578754579E-4|4.578754578754579E-4 0|0 0.0|0.0 1|1 0.0027624309392265192|0.0027624309392265192 0|0 0.0|0.0 0|0 0.0|0.0 G|G 16.13|16.13 3.036345|3.036345 0.54896|0.54896 .|. .|. ENSG00000204406|ENSG00000204406 ENST00000416015|ENST00000407073;ENST00000404807 .|T;T .|0.57595 .|0.43;0.39 4.96|4.96 4.96|4.96 0.65561|0.65561 .|. .|0.000000 .|0.64402 .|D .|0.000012 T|T 0.60508|0.60508 0.2274|0.2274 N|N 0.24115|0.24115 0.695|0.695 0.58432|0.58432 D|D 0.999999|0.999999 .|D;D .|0.89917 .|0.999;1.0 .|D;D .|0.91635 .|0.995;0.999 T|T 0.62996|0.62996 -0.6735|-0.6735 5|10 .|0.54805 .|T .|0.06 -4.5094|-4.5094 16.9333|16.9333 0.86196|0.86196 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. .|800;800 .|Q9P267-2;Q9P267 .|.;MBD5_HUMAN T|D 540|800 .|ENSP00000386049:G800D;ENSP00000384672:G800D .|ENSP00000384672:G800D A|G +|+ 1|2 0|0 MBD5|MBD5 148944381|148944381 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 5.613000|5.613000 0.67688|0.67688 2.746000|2.746000 0.94184|0.94184 0.655000|0.655000 0.94253|0.94253 GCA|GGC MBD5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318111.2 + ENST00000407073.1 Missense_Mutation SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU LTBP3 4054 broad.mit.edu 37 11 65314941 65314941 + Silent SNP C C T TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr11:65314941C>T ENST00000301873.5 - 14.0 2344 c.2076G>A c.(2074-2076)cgG>cgA p.R692R LTBP3_ENST00000536982.1_Silent_p.R318R|LTBP3_ENST00000322147.4_Silent_p.R692R|LTBP3_ENST00000532932.1_Silent_p.R122R NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 692.0 Cys-rich.|EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179) extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23.0 AGGCTTTGAGCCGGTAGCCGG 0.627 0 71.0 81.0 78.0 11 65314941.0 2201.0 4297.0 6498.0 SO:0001819 synonymous_variant AF135960 CCDS8103.1, CCDS44647.1 11q12 2011-10-20 ENSG00000168056 ENSG00000168056 4054.0 4054.0 """Latent transforming growth factor, beta binding proteins""" 6716.0 protein-coding gene gene with protein product 602090 LTBP2 7719025 Standard NM_021070 NM_001164266 Approved uc001oej.3 Q9NS15 OTTHUMG00000166575 ENST00000301873.5:c.2076G>A 11.__UNKNOWN__:g.65314941C>T O15107|Q96HB9|Q9H7K2|Q9UFN4 __UNKNOWN__ CCDS44647.1 . . . . . . . . . . C 9.883 1.202235 0.22121 . . ENSG00000168056 ENST00000526927 . . . 4.63 0.535 0.17133 . . . . . T 0.50051 0.1593 . . . 0.80722 D 1 . . . . . . T 0.31998 -0.9923 4 . . . . 4.3839 0.11307 0.0:0.552:0.1659:0.2821 . . . . T 343 . . A - 1 0 LTBP3 65071517 0.998000 0.40836 0.993000 0.49108 0.910000 0.53928 0.454000 0.21827 -0.177000 0.10690 0.313000 0.20887 GCT LTBP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390538.1 - ENST00000301873.5 Silent SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU BICC1 80114 broad.mit.edu 37 10 60553271 60553271 + Missense_Mutation SNP G G C TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr10:60553271G>C ENST00000373886.3 + 9.0 1079 c.1075G>C c.(1075-1077)Gat>Cat p.D359H NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN BicC family RNA binding protein 1 359.0 multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090) cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44.0 GTTGATGTTTGATATGAAGGA 0.358 0 141.0 130.0 134.0 10 60553271.0 2203.0 4300.0 6503.0 SO:0001583 missense AK026129 CCDS31206.1 10q21.3 2014-09-17 2014-02-03 ENSG00000122870 ENSG00000122870 80114.0 80114.0 """Sterile alpha motif (SAM) domain containing""" 19351.0 protein-coding gene gene with protein product 614295 """bicaudal C homolog 1 (Drosophila)""" Standard NM_025044 XM_005270166 Approved uc001jki.1 Q9H694 OTTHUMG00000018271 ENST00000373886.3:c.1075G>C 10.__UNKNOWN__:g.60553271G>C ENSP00000362993:p.Asp359His __UNKNOWN__ CCDS31206.1 . . . . . . . . . . G 27.4 4.831382 0.91036 . . ENSG00000122870 ENST00000373886 T 0.44881 0.91 5.76 5.76 0.90799 . 0.000000 0.85682 D 0.000000 T 0.69033 0.3066 M 0.80616 2.505 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 T 0.70281 -0.4915 10 0.56958 D 0.05 -19.7023 19.9664 0.97271 0.0:0.0:1.0:0.0 . 359 Q9H694 BICC1_HUMAN H 359 ENSP00000362993:D359H ENSP00000362993:D359H D + 1 0 BICC1 60223277 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.731000 0.98807 2.718000 0.92993 0.655000 0.94253 GAT BICC1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048150.2 + ENST00000373886.3 Missense_Mutation SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU NWD1 284434 broad.mit.edu 37 19 16902242 16902242 + Missense_Mutation SNP G G A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr19:16902242G>A ENST00000524140.2 + 14.0 3440 c.3022G>A c.(3022-3024)Gtg>Atg p.V1008M NWD1_ENST00000523826.1_Missense_Mutation_p.V802M|NWD1_ENST00000339803.6_Missense_Mutation_p.V873M|NWD1_ENST00000379808.3_Missense_Mutation_p.V1008M|NWD1_ENST00000552788.1_Missense_Mutation_p.V1008M|NWD1_ENST00000549814.1_Missense_Mutation_p.V1008M NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1008.0 ATP binding (GO:0005524) 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) 67.0 GTGCATGGCCGTGCTGGCCTC 0.517 0 103.0 92.0 96.0 19 16902242.0 2203.0 4300.0 6503.0 SO:0001583 missense BX648940 CCDS32945.1, CCDS32945.2 19p13.11 2013-01-09 ENSG00000188039 284434.0 284434.0 """WD repeat domain containing""" 27619.0 protein-coding gene gene with protein product Standard NM_001007525 NM_001007525 Approved uc002neu.4 Q149M9 ENST00000524140.2:c.3022G>A 19.__UNKNOWN__:g.16902242G>A ENSP00000428579:p.Val1008Met C9J021|Q68CT3 __UNKNOWN__ CCDS32945.2 . . . . . . . . . . G 9.459 1.092560 0.20471 . . ENSG00000188039 ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803 T;T;T;T;T;T 0.44083 1.48;0.93;1.48;3.41;3.41;3.41 5.44 -0.905 0.10527 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 1.392410 0.04551 N 0.389874 T 0.22859 0.0552 L 0.27053 0.805 0.09310 N 1 B;P;B 0.43578 0.338;0.811;0.338 B;B;B 0.30029 0.015;0.11;0.023 T 0.15521 -1.0434 10 0.39692 T 0.17 -4.4714 4.2802 0.10829 0.1393:0.113:0.6327:0.115 . 1008;1008;873 Q149M9;Q149M9-3;C9J2Y8 NWD1_HUMAN;.;. M 873;1008;1008;1008;802;1008;873 ENSP00000428579:V1008M;ENSP00000447548:V1008M;ENSP00000369136:V1008M;ENSP00000428955:V802M;ENSP00000447224:V1008M;ENSP00000340159:V873M ENSP00000340159:V873M V + 1 0 NWD1 16763242 0.000000 0.05858 0.000000 0.03702 0.053000 0.15095 0.312000 0.19397 -0.554000 0.06150 -2.048000 0.00412 GTG NWD1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000379040.3 + ENST00000524140.2 Missense_Mutation SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU POLG 5428 broad.mit.edu 37 15 89862284 89862284 + Missense_Mutation SNP C C A rs121918049 TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr15:89862284C>A ENST00000268124.5 - 20.0 3484 c.3151G>T c.(3151-3153)Ggg>Tgg p.G1051W POLG_ENST00000442287.2_Missense_Mutation_p.G1051W NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 1051.0 G -> R (in SANDO). {ECO:0000269|PubMed:14745080}. aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264) extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020) breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33.0 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) TCTGTGCCCCCCTTCCATGCC 0.532 DNA polymerases (catalytic subunits) Colon(73;648 1203 11348 18386 27782) 0 GRCh37 CM040472 POLG M rs121918049 136.0 121.0 126.0 15 89862284.0 2200.0 4299.0 6499.0 SO:0001583 missense X98093 CCDS10350.1 15q24 2014-09-17 ENSG00000140521 ENSG00000140521 5428.0 5428.0 """DNA polymerases""" 9179.0 protein-coding gene gene with protein product 174763 9465903 Standard NM_002693 NM_002693 Approved POLG1, POLGA uc002bnr.4 P54098 OTTHUMG00000149646 ENST00000268124.5:c.3151G>T 15.__UNKNOWN__:g.89862284C>A ENSP00000268124:p.Gly1051Trp Q8NFM2|Q92515 __UNKNOWN__ CCDS10350.1 . . . . . . . . . . C 21.2 4.108785 0.77096 . . ENSG00000140521 ENST00000268124;ENST00000442287 D;D 0.99252 -5.63;-5.63 5.21 5.21 0.72293 DNA-directed DNA polymerase, family A, palm domain (2); 0.045182 0.85682 D 0.000000 D 0.99450 0.9805 M 0.90252 3.1 0.80722 D 1 D 0.89917 1.0 D 0.83275 0.996 D 0.98408 1.0571 10 0.87932 D 0 -37.521 13.2575 0.60087 0.0:0.9244:0.0:0.0756 . 1051 P54098 DPOG1_HUMAN W 1051 ENSP00000268124:G1051W;ENSP00000399851:G1051W ENSP00000268124:G1051W G - 1 0 POLG 87663288 1.000000 0.71417 0.994000 0.49952 0.909000 0.53808 4.530000 0.60595 2.716000 0.92895 0.561000 0.74099 GGG POLG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000312854.2 - ENST00000268124.5 Missense_Mutation SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU CDH15 1013 broad.mit.edu 37 16 89261332 89261332 + Silent SNP C C T TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr16:89261332C>T ENST00000289746.2 + 14.0 2279 c.2214C>T c.(2212-2214)gaC>gaT p.D738D NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 738.0 adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149) caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18.0 BRCA - Breast invasive adenocarcinoma(80;0.0261) TCATCTATGACTACGAGGGTG 0.622 0 31.0 29.0 30.0 16 89261332.0 2180.0 4289.0 6469.0 SO:0001819 synonymous_variant D83542 CCDS10976.1 16q24.3 2010-01-26 2008-10-30 ENSG00000129910 ENSG00000129910 1013.0 1013.0 """Cadherins / Major cadherins""" 1754.0 protein-coding gene gene with protein product 114019 """cadherin 15, M-cadherin (myotubule)""" CDH3, CDH14 1427864 Standard NM_004933 NM_004933 Approved uc002fmt.3 P55291 OTTHUMG00000138045 ENST00000289746.2:c.2214C>T 16.__UNKNOWN__:g.89261332C>T __UNKNOWN__ CCDS10976.1 CDH15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269920.1 + ENST00000289746.2 Silent SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU CRY1 1407 broad.mit.edu 37 12 107391082 107391082 + Silent SNP G G A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr12:107391082G>A ENST00000008527.5 - 10.0 2442 c.1575C>T c.(1573-1575)agC>agT p.S525S NM_004075.4 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome circadian clock 1 525.0 blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634) blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130) 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) 29.0 TTCCACTGCTGCTACAACCTG 0.343 0 162.0 168.0 166.0 12 107391082.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC030519 CCDS9112.1 12q23-q24.1 2014-01-17 2014-01-17 ENSG00000008405 ENSG00000008405 1407.0 1407.0 2384.0 protein-coding gene gene with protein product 601933 """cryptochrome 1 (photolyase-like)""" PHLL1 8921389 Standard NM_004075 NM_004075 Approved uc001tmi.4 Q16526 OTTHUMG00000170005 ENST00000008527.5:c.1575C>T 12.__UNKNOWN__:g.107391082G>A __UNKNOWN__ CCDS9112.1 CRY1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406827.1 - ENST00000008527.5 Silent SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU CD37 0 broad.mit.edu 37 19 49840216 49840216 + Missense_Mutation SNP G G A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr19:49840216G>A ENST00000323906.4 + 3.0 334 c.193G>A c.(193-195)Gga>Aga p.G65R CD37_ENST00000596426.1_3'UTR|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000535669.2_Missense_Mutation_p.G65R|CD37_ENST00000426897.2_5'UTR|CD37_ENST00000598095.1_5'UTR NM_001774.2 NP_001765.1 P11049 CD37_HUMAN CD37 molecule 65.0 defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920) extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 11.0 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) GGCCATCTCAGGAATCTTCAC 0.632 0 101.0 86.0 91.0 19 49840216.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS12760.1, CCDS46139.1 19p13-q13.4 2013-02-14 2006-03-28 ENSG00000104894 951.0 """CD molecules"", ""Tetraspanins""" 1666.0 protein-coding gene gene with protein product 151523 """CD37 antigen""" 8436422 Standard XM_005259435 Approved TSPAN26 uc002pnd.3 P11049 ENST00000323906.4:c.193G>A 19.__UNKNOWN__:g.49840216G>A ENSP00000325708:p.Gly65Arg B4DVC1|Q3KPF9 __UNKNOWN__ CCDS12760.1 . . . . . . . . . . G 14.35 2.510287 0.44660 . . ENSG00000104894 ENST00000391859;ENST00000323906;ENST00000535669 D;D;D 0.89875 -2.58;-2.58;-2.58 4.35 4.35 0.52113 Tetraspanin, conserved site (1); 0.000000 0.56097 D 0.000028 D 0.95108 0.8415 M 0.91872 3.25 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 D 0.95790 0.8824 10 0.87932 D 0 . 12.742 0.57257 0.0:0.0:1.0:0.0 . 65;65;65 B7ZAN3;B4DW15;P11049 .;.;CD37_HUMAN R 65 ENSP00000375732:G65R;ENSP00000325708:G65R;ENSP00000441037:G65R ENSP00000325708:G65R G + 1 0 CD37 54532028 1.000000 0.71417 0.037000 0.18230 0.004000 0.04260 5.828000 0.69307 2.162000 0.67917 0.467000 0.42956 GGA CD37-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465532.1 + ENST00000323906.4 Missense_Mutation SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU TIMM10 26519 broad.mit.edu 37 11 57296266 57296266 + Missense_Mutation SNP C C T TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr11:57296266C>T ENST00000257245.4 - 3.0 349 c.197G>A c.(196-198)gGc>gAc p.G66D TIMM10_ENST00000525158.1_Missense_Mutation_p.G66D|TIMM10_ENST00000525587.1_Missense_Mutation_p.G66D NM_012456.2 NP_036588.1 P62072 TIM10_HUMAN translocase of inner mitochondrial membrane 10 homolog (yeast) 66.0 cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605) mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739) chaperone binding (GO:0051087)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270) cervix(1)|large_intestine(2) 3.0 CAACTTTTTGCCCATCCGCTC 0.542 0 157.0 134.0 142.0 11 57296266.0 2201.0 4296.0 6497.0 SO:0001583 missense AF152354 CCDS7959.1 11q12.1-q12.3 2008-07-21 2001-11-28 ENSG00000134809 26519.0 26519.0 11814.0 protein-coding gene gene with protein product 602251 """translocase of inner mitochondrial membrane 10 (yeast) homolog""" 10552927 Standard NM_012456 NM_012456 Approved TIM10, TIM10A uc001nkm.1 P62072 ENST00000257245.4:c.197G>A 11.__UNKNOWN__:g.57296266C>T ENSP00000257245:p.Gly66Asp A8K136|Q9WV99|Q9WVA0|Q9Y5J8 __UNKNOWN__ CCDS7959.1 . . . . . . . . . . C 34 5.302762 0.95601 . . ENSG00000134809 ENST00000257245;ENST00000525587;ENST00000525158 T;T;T 0.66280 -0.2;-0.2;-0.2 5.78 5.78 0.91487 . 0.000000 0.85682 D 0.000000 T 0.81574 0.4851 . . . 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.83033 -0.0161 9 0.87932 D 0 -41.416 19.6068 0.95584 0.0:1.0:0.0:0.0 . 66 P62072 TIM10_HUMAN D 66 ENSP00000257245:G66D;ENSP00000435678:G66D;ENSP00000433627:G66D ENSP00000257245:G66D G - 2 0 TIMM10 57052842 1.000000 0.71417 1.000000 0.80357 0.963000 0.63663 7.640000 0.83355 2.744000 0.94065 0.563000 0.77884 GGC TIMM10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000392595.1 - ENST00000257245.4 Missense_Mutation SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU FANCI 55215 broad.mit.edu 37 15 89804896 89804896 + Missense_Mutation SNP T T A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr15:89804896T>A ENST00000310775.7 + 5.0 455 c.369T>A c.(367-369)aaT>aaA p.N123K FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.N123K|FANCI_ENST00000567996.1_Missense_Mutation_p.N123K NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 123.0 cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398) membrane (GO:0016020)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182) 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) 31.0 Lung NSC(78;0.0472)|all_lung(78;0.089) GCCTAGTGAATGGAAAATCTT 0.398 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 0 210.0 202.0 205.0 15 89804896.0 2200.0 4299.0 6499.0 SO:0001583 missense Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) BC004277 CCDS10349.2, CCDS45346.1 15q26.1 2014-09-17 2007-05-03 2007-05-03 ENSG00000140525 ENSG00000140525 55215.0 55215.0 """Fanconi anemia, complementation groups""" 25568.0 protein-coding gene gene with protein product 611360 """KIAA1794""" KIAA1794 14630800, 17460694, 17412408 Standard NM_018193 NM_001113378 Approved FLJ10719 uc010bnp.1 Q9NVI1 OTTHUMG00000132993 ENST00000310775.7:c.369T>A 15.__UNKNOWN__:g.89804896T>A ENSP00000310842:p.Asn123Lys A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96 __UNKNOWN__ CCDS45346.1 . . . . . . . . . . T 16.29 3.081415 0.55753 . . ENSG00000140525 ENST00000300027;ENST00000310775;ENST00000447611 T;T;T 0.43294 0.95;0.95;0.95 5.27 2.97 0.34412 . 0.199329 0.42172 D 0.000757 T 0.34454 0.0898 M 0.65975 2.015 0.80722 D 1 B;P 0.40834 0.056;0.73 B;B 0.36244 0.047;0.22 T 0.12656 -1.0539 10 0.12766 T 0.61 -14.8215 9.6974 0.40165 0.0:0.1408:0.0:0.8592 . 123;123 Q9NVI1;Q9NVI1-1 FANCI_HUMAN;. K 123 ENSP00000300027:N123K;ENSP00000310842:N123K;ENSP00000413249:N123K ENSP00000300027:N123K N + 3 2 FANCI 87605900 1.000000 0.71417 0.957000 0.39632 0.988000 0.76386 2.815000 0.48018 0.463000 0.27118 0.533000 0.62120 AAT FANCI-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000421140.1 + ENST00000310775.7 Missense_Mutation SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU MMP27 64066 broad.mit.edu 37 11 102567138 102567138 + Missense_Mutation SNP G G T TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr11:102567138G>T ENST00000260229.4 - 6.0 957 c.866C>A c.(865-867)aCa>aAa p.T289K NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 289.0 collagen catabolic process (GO:0030574) proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45.0 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) Marimastat(DB00786) GCGGAAAGTTGTGATAGCGTC 0.413 0 166.0 171.0 169.0 11 102567138.0 2203.0 4299.0 6502.0 SO:0001583 missense AF195192 CCDS8319.1 11q24 2008-07-18 2005-08-08 ENSG00000137675 ENSG00000137675 64066.0 64066.0 14250.0 protein-coding gene gene with protein product """matrix metalloprotease 27""" """matrix metalloproteinase 27""" 10419448 Standard NM_022122 NM_022122 Approved uc001phd.1 Q9H306 OTTHUMG00000168099 ENST00000260229.4:c.866C>A 11.__UNKNOWN__:g.102567138G>T ENSP00000260229:p.Thr289Lys Q6UWK6 __UNKNOWN__ CCDS8319.1 . . . . . . . . . . G 25.8 4.675309 0.88445 . . ENSG00000137675 ENST00000260229 T 0.02890 4.12 6.08 6.08 0.98989 Hemopexin/matrixin (2); 0.000000 0.64402 D 0.000005 T 0.24967 0.0606 M 0.92367 3.3 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.02821 -1.1106 10 0.87932 D 0 . 20.6721 0.99693 0.0:0.0:1.0:0.0 . 289 Q9H306 MMP27_HUMAN K 289 ENSP00000260229:T289K ENSP00000260229:T289K T - 2 0 MMP27 102072348 1.000000 0.71417 0.999000 0.59377 0.743000 0.42351 7.540000 0.82074 2.894000 0.99253 0.591000 0.81541 ACA MMP27-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398128.1 - ENST00000260229.4 Missense_Mutation SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU PPP1R13L 10848 broad.mit.edu 37 19 45885941 45885941 + Silent SNP G G A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr19:45885941G>A ENST00000418234.2 - 12.0 2370 c.2292C>T c.(2290-2292)taC>taT p.Y764Y PPP1R13L_ENST00000360957.5_Silent_p.Y764Y NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 764.0 SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}. apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229) cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634) identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26.0 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CCCAGAGAGCGTACACTGCCC 0.662 Pancreas(61;1447 1663 31419 50578) 0 62.0 51.0 55.0 19 45885941.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF078036 CCDS33050.1 19q13.32 2013-01-10 2011-10-04 ENSG00000104881 ENSG00000104881 10848.0 10848.0 """Ankyrin repeat domain containing""" 18838.0 protein-coding gene gene with protein product 607463 """protein phosphatase 1, regulatory (inhibitor) subunit 13 like""" 10336463 Standard NM_006663 NM_006663 Approved RAI, IASPP uc002pbo.3 Q8WUF5 ENST00000418234.2:c.2292C>T 19.__UNKNOWN__:g.45885941G>A Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290 __UNKNOWN__ CCDS33050.1 PPP1R13L-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457586.1 - ENST00000418234.2 Silent SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU CDK5RAP3 80279 broad.mit.edu 37 17 46051813 46051813 + Splice_Site SNP A A C TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr17:46051813A>C ENST00000338399.4 + 5.0 439 c.333A>C c.(331-333)ttA>ttC p.L111F CDK5RAP3_ENST00000536708.2_Splice_Site_p.L136F NM_176096.1 NP_788276.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 111.0 brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664) membrane (GO:0016020) protein kinase binding (GO:0019901) NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18.0 ACACCTACTTAGGTAAAGTGG 0.498 0 127.0 125.0 126.0 17 46051813.0 1904.0 4126.0 6030.0 SO:0001630 splice_region_variant AF110322 CCDS42356.1, CCDS62232.1 17q21.2 2008-07-18 ENSG00000108465 80279.0 80279.0 18673.0 protein-coding gene gene with protein product """ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein""" 608202 10721722 Standard NM_176096 NM_176096 Approved MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP uc010wlc.3 Q96JB5 ENST00000338399.4:c.334+1A>C 17.__UNKNOWN__:g.46051813A>C B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9 __UNKNOWN__ CCDS42356.1 . . . . . . . . . . A 22.8 4.341026 0.81911 . . ENSG00000108465 ENST00000536708;ENST00000338399 T;T 0.68765 -0.35;-0.35 5.64 -0.626 0.11544 . 0.000000 0.64402 D 0.000001 T 0.80330 0.4603 M 0.91920 3.255 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.77054 -0.2730 10 0.72032 D 0.01 -34.8137 5.44 0.16501 0.5412:0.1423:0.3165:0.0 . 111 Q96JB5 CK5P3_HUMAN F 136;111 ENSP00000438886:L136F;ENSP00000344683:L111F ENSP00000344683:L111F L + 3 2 CDK5RAP3 43406812 0.998000 0.40836 0.999000 0.59377 0.977000 0.68977 0.670000 0.25157 0.103000 0.17682 0.533000 0.62120 TTA CDK5RAP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000442913.1 Missense_Mutation + ENST00000338399.4 Splice_Site SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU CCNI 10983 broad.mit.edu 37 4 77969505 77969505 + Missense_Mutation SNP T T C rs139547927 byFrequency TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr4:77969505T>C ENST00000237654.4 - 7.0 1577 c.1001A>G c.(1000-1002)tAt>tGt p.Y334C CCNI_ENST00000537948.1_Missense_Mutation_p.Y320C NM_006835.2 NP_006826.1 Q14094 CCNI_HUMAN cyclin I 334.0 regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9.0 GATTCCATCATAGAAGTCATC 0.453 0 T CYS/TYR 1,4405 2.1+/-5.4 0,1,2202 140.0 138.0 139.0 1001 5.6 1.0 4 dbSNP_134 139.0 1,8599 2.2+/-6.3 0,1,4299 yes missense CCNI NM_006835.2 194 0,2,6501 CC,CT,TT 0.0116,0.0227,0.0154 probably-damaging 334/378 77969505.0 2,13004 2203.0 4300.0 6503.0 SO:0001583 missense D50310 CCDS3580.1 4q21.1 2014-07-03 ENSG00000118816 ENSG00000118816 10983.0 10983.0 1595.0 protein-coding gene gene with protein product 7493655 Standard NM_006835 NM_006835 Approved CCNI1 uc003hkm.3 Q14094 OTTHUMG00000130106 ENST00000237654.4:c.1001A>G 4.__UNKNOWN__:g.77969505T>C ENSP00000237654:p.Tyr334Cys B2R6M0|B7Z6X4 __UNKNOWN__ CCDS3580.1 . . . . . . . . . . T 20.4 3.975891 0.74360 2.27E-4 1.16E-4 ENSG00000118816 ENST00000237654;ENST00000537948 T;T 0.55930 0.49;0.49 5.57 5.57 0.84162 . 0.053990 0.85682 D 0.000000 T 0.72070 0.3415 M 0.73962 2.25 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.71870 0.975;0.956 T 0.76072 -0.3093 10 0.87932 D 0 -14.2206 15.7408 0.77894 0.0:0.0:0.0:1.0 . 320;334 B7Z6X4;Q14094 .;CCNI_HUMAN C 334;320 ENSP00000237654:Y334C;ENSP00000441001:Y320C ENSP00000237654:Y334C Y - 2 0 CCNI 78188529 1.000000 0.71417 0.991000 0.47740 0.985000 0.73830 5.430000 0.66501 2.114000 0.64651 0.460000 0.39030 TAT CCNI-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252412.2 - ENST00000237654.4 Missense_Mutation SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU DENND5A 23258 broad.mit.edu 37 11 9187392 9187392 + Silent SNP G G A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr11:9187392G>A ENST00000530044.1 - 11.0 2291 c.2274C>T c.(2272-2274)tgC>tgT p.C758C DENND5A_ENST00000328194.3_Silent_p.C758C|DENND5A_ENST00000527700.1_Silent_p.C101C Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 758.0 positive regulation of Rab GTPase activity (GO:0032851) Golgi apparatus (GO:0005794)|membrane (GO:0016020) Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39.0 CCTTATTGCGGCATTCCTTCA 0.498 0 164.0 145.0 151.0 11 9187392.0 2201.0 4296.0 6497.0 SO:0001819 synonymous_variant AB029014 CCDS31423.1, CCDS58119.1 11p15.3 2012-10-03 2008-08-14 2008-08-14 ENSG00000184014 ENSG00000184014 23258.0 23258.0 """DENN/MADD domain containing""" 19344.0 protein-coding gene gene with protein product """RAB6 interacting protein 1""" RAB6IP1 10470851 Standard NM_015213 NM_015213 Approved KIAA1091, FLJ22354, FLJ33829, FLJ43455 uc001mhl.3 Q6IQ26 OTTHUMG00000165716 ENST00000530044.1:c.2274C>T 11.__UNKNOWN__:g.9187392G>A B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1 __UNKNOWN__ CCDS58119.1 DENND5A-003 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000385912.1 - ENST00000530044.1 Silent SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU MSLNL 401827 broad.mit.edu 37 16 819596 819596 + Silent SNP C C T TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr16:819596C>T ENST00000293892.3 - 16.0 2993 c.2994G>A c.(2992-2994)gcG>gcA p.A998A MSLNL_ENST00000442466.1_Silent_p.A647A Q96KJ4 MSLNL_HUMAN mesothelin-like 647.0 cell adhesion (GO:0007155) integral component of membrane (GO:0016021) breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36.0 GCAGGGCCATCGCCAGGGGCA 0.652 0 34.0 39.0 38.0 16 819596.0 2032.0 4177.0 6209.0 SO:0001819 synonymous_variant 16p13.3 2008-08-06 2008-07-04 2008-07-04 ENSG00000162006 ENSG00000162006 401827.0 401827.0 14170.0 protein-coding gene gene with protein product """chromosome 16 open reading frame 37""" C16orf37 Standard NM_001025190 NG_032123 Approved MPFL Q96KJ4 ENST00000293892.3:c.2994G>A 16.__UNKNOWN__:g.819596C>T __UNKNOWN__ MSLNL-201 KNOWN basic|appris_candidate_longest protein_coding protein_coding - ENST00000293892.3 Silent SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU ERCC8 1161 broad.mit.edu 37 5 60240835 60240835 + Translation_Start_Site SNP T T C TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr5:60240835T>C ENST00000265038.5 - 1.0 43 c.1A>G c.(1-3)Atg>Gtg p.M1V ERCC8_ENST00000543101.1_De_novo_Start_OutOfFrame|ERCC8_ENST00000426742.2_De_novo_Start_OutOfFrame NM_000082.3 NP_000073.1 Q13216 ERCC8_HUMAN excision repair cross-complementation group 8 1.0 cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283) Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234) protein complex binding (GO:0032403) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14.0 Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077) AACCCCAGCATATCGTGTCCT 0.557 0 82.0 77.0 79.0 5 60240835.0 2203.0 4300.0 6503.0 SO:0001582 initiator_codon_variant U28413 CCDS3978.1 5q12.1 2014-09-17 2014-03-07 ENSG00000049167 ENSG00000049167 1161.0 1161.0 """WD repeat domain containing""" 3439.0 protein-coding gene gene with protein product 609412 """Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8""" CKN1 8596535 Standard NM_000082 NM_000082 Approved CSA uc003jsm.3 Q13216 OTTHUMG00000097741 ENST00000265038.5:c.1A>G 5.__UNKNOWN__:g.60240835T>C ENSP00000265038:p.Met1Val B2RB64|Q6FHX5|Q96GB9 __UNKNOWN__ CCDS3978.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 15.95|15.95 2.983213|2.983213 0.53827|0.53827 .|. .|. ENSG00000049167|ENSG00000049167 ENST00000265038|ENST00000536596 T|. 0.69175|. -0.38|. 5.65|5.65 5.65|5.65 0.86999|0.86999 .|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.66489|0.66489 0.2794|0.2794 .|. .|. .|. 0.80722|0.80722 D|D 1|1 D;D|. 0.71674|. 0.998;0.996|. D;P|. 0.80764|. 0.994;0.901|. T|T 0.67106|0.67106 -0.5754|-0.5754 9|5 0.87932|0.48119 D|T 0|0.1 -20.6274|-20.6274 12.1892|12.1892 0.54261|0.54261 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. 1;1|. Q13216-2;Q13216|. .;ERCC8_HUMAN|. V|C 1|14 ENSP00000265038:M1V|. ENSP00000265038:M1V|ENSP00000442219:Y14C M|Y -|- 1|2 0|0 ERCC8|ERCC8 60276592|60276592 0.998000|0.998000 0.40836|0.40836 0.762000|0.762000 0.31397|0.31397 0.199000|0.199000 0.23934|0.23934 4.257000|4.257000 0.58816|0.58816 2.371000|2.371000 0.80710|0.80710 0.533000|0.533000 0.62120|0.62120 ATG|TAT ERCC8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214971.2 Missense_Mutation - ENST00000265038.5 Start_Codon_SNP SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU OXER1 165140 broad.mit.edu 37 2 42990174 42990174 + Silent SNP G G A rs145580414 byFrequency TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr2:42990174G>A ENST00000378661.2 - 1.0 1227 c.1146C>T c.(1144-1146)gaC>gaT p.D382D NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 382.0 G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10.0 AGGAGCTCTCGTCGCTCACTG 0.667 G 0.0 0.0 2184.0 1.0 , , 0.0003 0.0 0.0 EXOME 0.0002 SNP 0 G 16,4390 20.2+/-43.8 0,16,2187 42.0 46.0 45.0 1146 -8.0 0.0 2 dbSNP_134 45.0 0,8600 0,0,4300 no coding-synonymous OXER1 NM_148962.4 0,16,6487 AA,AG,GG 0.0,0.3631,0.123 382/424 42990174.0 16,12990 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB083055 CCDS1810.1 2p22.1 2012-08-10 ENSG00000162881 ENSG00000162881 165140.0 165140.0 """GPCR / Class A : Leukotriene receptors""" 24884.0 protein-coding gene gene with protein product """5-oxo-ETE acid G-protein-coupled receptor 1""" 12065583, 15001665 Standard NM_148962 NM_148962 Approved GPCR, TG1019, GPR170 uc002rss.3 Q8TDS5 OTTHUMG00000128643 ENST00000378661.2:c.1146C>T 2.__UNKNOWN__:g.42990174G>A Q86WP7|Q8NGW4 __UNKNOWN__ CCDS1810.1 OXER1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250514.1 - ENST00000378661.2 Silent SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU LBR 3930 broad.mit.edu 37 1 225611758 225611758 + Missense_Mutation SNP G G A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr1:225611758G>A ENST00000338179.2 - 2.0 145 c.20C>T c.(19-21)gCc>gTc p.A7V LBR_ENST00000272163.4_Missense_Mutation_p.A7V NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 7.0 Tudor. cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965) chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22.0 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) TTCACCATCGGCAAATTTCCT 0.373 0 229.0 252.0 245.0 1 225611758.0 2203.0 4300.0 6503.0 SO:0001583 missense L25931 CCDS1545.1 1q42.1 2013-01-23 ENSG00000143815 ENSG00000143815 3930.0 3930.0 """Tudor domain containing""" 6518.0 protein-coding gene gene with protein product """tudor domain containing 18""" 600024 8157663, 9878250 Standard NM_002296 NM_194442 Approved DHCR14B, TDRD18 uc001hoy.3 Q14739 OTTHUMG00000037520 ENST00000338179.2:c.20C>T 1.__UNKNOWN__:g.225611758G>A ENSP00000339883:p.Ala7Val B2R5P3|Q14740|Q53GU7|Q59FE6 __UNKNOWN__ CCDS1545.1 . . . . . . . . . . G 16.40 3.112372 0.56398 . . ENSG00000143815 ENST00000272163;ENST00000338179;ENST00000425080;ENST00000421383 D;D;T 0.97041 -4.22;-4.22;0.44 5.51 4.58 0.56647 Lamin-B receptor of TUDOR domain (1);Tudor domain (1); 0.361768 0.29145 N 0.013017 D 0.93138 0.7815 N 0.19112 0.55 0.33255 D 0.558951 B;B 0.24258 0.1;0.02 B;B 0.28916 0.096;0.017 D 0.92783 0.6242 10 0.35671 T 0.21 -12.0216 12.7545 0.57325 0.0778:0.0:0.9222:0.0 . 7;7 C9JXK0;Q14739 .;LBR_HUMAN V 7 ENSP00000272163:A7V;ENSP00000339883:A7V;ENSP00000388059:A7V ENSP00000272163:A7V A - 2 0 LBR 223678381 0.999000 0.42202 0.893000 0.35052 0.970000 0.65996 3.148000 0.50647 1.285000 0.44548 0.655000 0.94253 GCC LBR-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000091398.1 - ENST00000338179.2 Missense_Mutation SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU ACAN 176 broad.mit.edu 37 15 89402355 89402355 + Missense_Mutation SNP A A T TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr15:89402355A>T ENST00000561243.1 + 11.0 6539 c.6539A>T c.(6538-6540)gAg>gTg p.E2180V ACAN_ENST00000559004.1_Missense_Mutation_p.E2180V|ACAN_ENST00000439576.2_Missense_Mutation_p.E2180V|ACAN_ENST00000352105.7_Missense_Mutation_p.E2180V P16112 PGCA_HUMAN aggrecan 2065.0 EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.|G3. carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281) extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578) carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872) 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) 93.0 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GTGGGGACAGAGGCACCAGGC 0.592 0 62.0 67.0 65.0 15 89402355.0 2086.0 4216.0 6302.0 SO:0001583 missense M55172 CCDS53970.1, CCDS53971.1 15q26.1 2013-05-07 2007-02-16 2007-02-16 ENSG00000157766 ENSG00000157766 176.0 176.0 """Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans""" 319.0 protein-coding gene gene with protein product """aggrecan proteoglycan""" 155760 """chondroitin sulfate proteoglycan 1"", ""aggrecan 1""" MSK16, CSPG1, AGC1 1985970 Standard NM_001135 NM_013227 Approved CSPGCP uc010upo.1 P16112 OTTHUMG00000171989 ENST00000561243.1:c.6539A>T 15.__UNKNOWN__:g.89402355A>T ENSP00000453342:p.Glu2180Val Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0 __UNKNOWN__ CCDS53970.1 . . . . . . . . . . A 7.179 0.589199 0.13812 . . ENSG00000157766 ENST00000439576;ENST00000352105;ENST00000268134 T;T 0.02916 4.39;4.11 5.15 4.03 0.46877 . 0.656995 0.11844 N 0.524008 T 0.10766 0.0263 M 0.70595 2.14 0.09310 N 1 D;D 0.63046 0.964;0.992 P;P 0.62649 0.706;0.905 T 0.19614 -1.0300 10 0.42905 T 0.14 -7.8238 7.2637 0.26217 0.8163:0.0:0.1837:0.0 . 2180;2180 E7ENV9;E7EX88 .;. V 2180;2180;2066 ENSP00000387356:E2180V;ENSP00000341615:E2180V ENSP00000268134:E2066V E + 2 0 ACAN 87203359 0.752000 0.28338 0.007000 0.13788 0.003000 0.03518 1.488000 0.35551 0.822000 0.34565 0.454000 0.30748 GAG ACAN-006 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000416267.2 + ENST00000561243.1 Missense_Mutation SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU NUP188 23511 broad.mit.edu 37 9 131767807 131767807 + Missense_Mutation SNP C C G TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr9:131767807C>G ENST00000372577.2 + 40.0 4756 c.4735C>G c.(4735-4737)Cag>Gag p.Q1579E NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1579.0 carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643) breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60.0 TCTGCTGGATCAGGTACTGCC 0.577 0 103.0 99.0 100.0 9 131767807.0 2203.0 4300.0 6503.0 SO:0001583 missense D79991 CCDS35156.1 9q34.13 2014-01-28 2004-03-19 2004-03-24 ENSG00000095319 ENSG00000095319 23511.0 23511.0 17859.0 protein-coding gene gene with protein product 615587 """KIAA0169""" KIAA0169 11029043 Standard NM_015354 Approved uc004bws.2 Q5SRE5 OTTHUMG00000020768 ENST00000372577.2:c.4735C>G 9.__UNKNOWN__:g.131767807C>G ENSP00000361658:p.Gln1579Glu Q14675|Q2TA87|Q7Z3K8|Q8IWF1 __UNKNOWN__ CCDS35156.1 . . . . . . . . . . C 11.04 1.520659 0.27211 . . ENSG00000095319 ENST00000356693;ENST00000372577 T 0.32515 1.45 5.32 5.32 0.75619 . 0.000000 0.85682 D 0.000000 T 0.27866 0.0686 L 0.48362 1.52 0.80722 D 1 B 0.26002 0.139 B 0.24701 0.055 T 0.08638 -1.0712 10 0.07813 T 0.8 -36.17 18.0037 0.89203 0.0:1.0:0.0:0.0 . 1579 Q5SRE5 NU188_HUMAN E 1468;1579 ENSP00000361658:Q1579E ENSP00000349125:Q1468E Q + 1 0 NUP188 130807628 1.000000 0.71417 0.996000 0.52242 0.698000 0.40448 7.237000 0.78164 2.482000 0.83794 0.561000 0.74099 CAG NUP188-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054529.2 + ENST00000372577.2 Missense_Mutation SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU P4HA2 8974 broad.mit.edu 37 5 131534588 131534588 + Missense_Mutation SNP T T C TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr5:131534588T>C ENST00000401867.1 - 12.0 1857 c.1289A>G c.(1288-1290)cAc>cGc p.H430R P4HA2_ENST00000360568.3_Missense_Mutation_p.H430R|P4HA2_ENST00000379086.1_Missense_Mutation_p.H430R|P4HA2_ENST00000379100.2_Missense_Mutation_p.H430R|P4HA2_ENST00000166534.4_Missense_Mutation_p.H430R|P4HA2_ENST00000379104.2_Missense_Mutation_p.H430R O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha polypeptide II 430.0 Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}. peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222) electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656) breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24.0 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) GAAGTCGAAGTGCGGTTCATA 0.483 Esophageal Squamous(68;117 1135 17362 19256 34242) 0 132.0 112.0 119.0 5 131534588.0 2203.0 4300.0 6503.0 SO:0001583 missense U90441 CCDS4151.1, CCDS34230.1 5q31 2008-12-09 2008-12-09 ENSG00000072682 ENSG00000072682 8974.0 8974.0 1.14.11.2 8547.0 protein-coding gene gene with protein product """4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)""" 600608 """procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II""" 9211872, 9149945 Standard NM_004199 NM_001142598 Approved C-P4Halpha(II) uc003kwl.3 O15460 OTTHUMG00000059647 ENST00000401867.1:c.1289A>G 5.__UNKNOWN__:g.131534588T>C ENSP00000384999:p.His430Arg D3DQ85|D3DQ86|Q8WWN0 __UNKNOWN__ CCDS4151.1 . . . . . . . . . . T 19.60 3.858688 0.71834 . . ENSG00000072682 ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100 D;D;D;D;D;D 0.97642 -4.47;-4.47;-4.47;-4.47;-4.47;-4.47 6.07 6.07 0.98685 Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1); 0.000000 0.85682 D 0.000000 D 0.99208 0.9725 H 0.99042 4.41 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.98794 1.0737 10 0.87932 D 0 0.3111 16.6407 0.85098 0.0:0.0:0.0:1.0 . 430;430 O15460;O15460-2 P4HA2_HUMAN;. R 430 ENSP00000384999:H430R;ENSP00000368379:H430R;ENSP00000166534:H430R;ENSP00000353772:H430R;ENSP00000368398:H430R;ENSP00000368394:H430R ENSP00000166534:H430R H - 2 0 P4HA2 131562487 1.000000 0.71417 0.997000 0.53966 0.463000 0.32649 7.698000 0.84413 2.326000 0.78906 0.533000 0.62120 CAC P4HA2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000132653.4 - ENST00000401867.1 Missense_Mutation SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU NF1 4763 broad.mit.edu 37 17 29556251 29556252 + Frame_Shift_Ins INS - - T TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr17:29556251_29556252insT ENST00000358273.4 + 21.0 3001_3002 c.2618_2619insT c.(2617-2622)cgtaagfs p.K874fs NF1_ENST00000356175.3_Frame_Shift_Ins_p.K874fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 874.0 actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060) axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634) phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099) p.0?(8)|p.?(4) 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) 599.0 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) GTCAGTGAACGTAAGGGTTCTA 0.5 """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) yes Rec yes Neurofibromatosis type 1 17 17q12 4763.0 neurofibromatosis type 1 gene O 12 Whole gene deletion(8)|Unknown(4) soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1) SO:0001589 frameshift_variant Familial Cancer Database NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome CCDS11264.1, CCDS42292.1, CCDS45645.1 17q11.2 2014-09-17 2008-07-31 ENSG00000196712 ENSG00000196712 4763.0 4763.0 7765.0 protein-coding gene gene with protein product """neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease""" 613113 1715669 Standard NM_000267 NM_000267 Approved uc002hgg.3 P21359 OTTHUMG00000132871 ENST00000358273.4:c.2619dupT 17.__UNKNOWN__:g.29556252_29556252dupT ENSP00000351015:p.Lys874fs O00662|Q14284|Q14930|Q14931|Q9UMK3 __UNKNOWN__ CCDS42292.1 NF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256351.2 + ENST00000358273.4 Frame_Shift_Ins INS PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU Unknown 143371 bcgsc.ca 37 10 23426262 23426262 + RNA SNP A A G TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr10:23426262A>G MSRB2 (15320 upstream) : SNORA40 (29651 downstream) GCTGGGGATGACAAGAAAGGG 0.448 0 SO:0001628 intergenic_variant 10.__UNKNOWN__:g.23426262A>G __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU DIAPH2 1730 ucsc.edu 37 X 96167328 96167328 + Missense_Mutation SNP T T C rs34008674 TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chrX:96167328T>C ENST00000324765.8 + 6.0 936 c.589T>C c.(589-591)Tgg>Cgg p.W197R DIAPH2_ENST00000373049.4_Splice_Site_p.W197R|DIAPH2_ENST00000373061.3_Splice_Site_p.W197R|DIAPH2_ENST00000373054.4_Splice_Site_p.W193R|DIAPH2_ENST00000355827.4_Splice_Site_p.W197R O60879 DIAP2_HUMAN diaphanous-related formin 2 197.0 GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}. actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477) endosome (GO:0005768) receptor binding (GO:0005102) 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) 51.0 ATTTCTCAGCTGGGTTAACAA 0.274 0 49.0 42.0 44.0 X 96167328.0 2198.0 4295.0 6493.0 SO:0001630 splice_region_variant Y15909 CCDS14467.1, CCDS14468.1 Xq22 2013-05-24 2013-05-24 ENSG00000147202 ENSG00000147202 1730.0 1730.0 2877.0 protein-coding gene gene with protein product 300108 """diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)""" 9360932 Standard NM_006729, NM_007309 NM_006729 Approved POF, DIA, POF2, DIA2 uc004efu.4 O60879 OTTHUMG00000022689 ENST00000324765.8:c.588-1T>C X.__UNKNOWN__:g.96167328T>C A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2 __UNKNOWN__ CCDS14467.1 . . . . . . . . . . T 13.91 2.379130 0.42207 . . ENSG00000147202 ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885 D;D;D;D;D 0.95821 -3.82;-3.82;-3.82;-3.82;-3.82 4.79 4.79 0.61399 GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1); 0.000000 0.64402 D 0.000003 D 0.97754 0.9263 M 0.87758 2.905 0.58432 D 0.999998 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;0.999;1.0 D 0.98554 1.0638 10 0.87932 D 0 . 13.6852 0.62511 0.0:0.0:0.0:1.0 . 197;197;204 O60879;O60879-2;B7ZLJ0 DIAP2_HUMAN;.;. R 197;193;197;197;197;204 ENSP00000362152:W197R;ENSP00000362145:W193R;ENSP00000348082:W197R;ENSP00000362140:W197R;ENSP00000321348:W197R ENSP00000321348:W197R W + 1 0 DIAPH2 96053984 1.000000 0.71417 0.979000 0.43373 0.631000 0.37964 7.568000 0.82369 1.674000 0.50907 0.417000 0.27973 TGG DIAPH2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000058871.2 Missense_Mutation + ENST00000324765.8 Splice_Site SNP PCPG-TCGA-SQ-A6I6-Normal-SM-5EMNU AKAP13 11214 broad.mit.edu 37 15 86198964 86198964 + Missense_Mutation SNP A A G TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr15:86198964A>G ENST00000361243.2 + 11.0 4772 c.4691A>G c.(4690-4692)cAc>cGc p.H1564R AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000394518.2_Missense_Mutation_p.H1564R NM_006738.5 NP_006729.4 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1564.0 apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871) 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) 98.0 TTCCGGAGGCACAGCTGGGGG 0.562 Melanoma(94;603 1453 3280 32295 32951) 0 84.0 85.0 84.0 15 86198964.0 2202.0 4299.0 6501.0 SO:0001583 missense M90360 CCDS32319.1, CCDS32320.1, CCDS73778.1 15q24-q25 2013-01-10 2002-06-13 ENSG00000170776 11214.0 11214.0 """A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing""" 371.0 protein-coding gene gene with protein product 604686 """lymphoid blast crisis oncogene""" LBC 9627117, 1860836 Standard NM_007200 NM_007200 Approved Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13 uc002blu.2 Q12802 ENST00000361243.2:c.4691A>G 15.__UNKNOWN__:g.86198964A>G ENSP00000354718:p.His1564Arg Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6 __UNKNOWN__ CCDS32320.1 . . . . . . . . . . A 25.2 4.618159 0.87359 . . ENSG00000170776 ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000452008 T;T 0.36157 1.28;1.27 6.17 6.17 0.99709 . . . . . T 0.60612 0.2282 M 0.69823 2.125 0.80722 D 1 D;D;D 0.89917 1.0;0.999;1.0 D;D;D 0.85130 0.997;0.994;0.997 T 0.61569 -0.7036 9 0.54805 T 0.06 . 16.0034 0.80327 1.0:0.0:0.0:0.0 . 1564;1564;1564 Q12802-4;Q12802;Q12802-2 .;AKP13_HUMAN;. R 1564;1564;1563;1563;204 ENSP00000354718:H1564R;ENSP00000378026:H1564R ENSP00000354718:H1564R H + 2 0 AKAP13 83999968 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 8.131000 0.89601 2.371000 0.80710 0.533000 0.62120 CAC AKAP13-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000417319.1 + ENST00000361243.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 SCRIB 23513 broad.mit.edu 37 8 144892898 144892898 + Silent SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:144892898G>A ENST00000356994.2 - 12.0 1368 c.1362C>T c.(1360-1362)ccC>ccT p.P454P SCRIB_ENST00000377533.3_Silent_p.P373P|SCRIB_ENST00000320476.3_Silent_p.P454P NM_182706.4 NP_874365 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 454.0 Sufficient for targeting to adherens junction and to inhibit cell proliferation. P -> S (in NTD; protein interactions not affected by the mutation; shows reduced protein localization to the cell membrane). {ECO:0000269|PubMed:22095531}. activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060) basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750) 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) 42.0 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CATCACCTATGGGGGCCTCCA 0.662 Pancreas(51;966 1133 10533 14576 29674) 0 90.0 88.0 88.0 8 144892898.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AY062238 CCDS6411.1, CCDS6412.1 8q24.3 2013-03-05 2013-03-05 ENSG00000180900 ENSG00000180900 23513.0 23513.0 30377.0 protein-coding gene gene with protein product 607733 """scribbled homolog (Drosophila)""" 11027293, 14681682 Standard NM_015356 NM_182706 Approved KIAA0147, SCRB1, Vartul uc003yzo.1 Q14160 OTTHUMG00000165154 ENST00000356994.2:c.1362C>T 8.__UNKNOWN__:g.144892898G>A Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1 __UNKNOWN__ CCDS6412.1 SCRIB-002 NOVEL not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000382214.2 - ENST00000356994.2 Silent SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 NUP98 4928 broad.mit.edu 37 11 3723762 3723762 + Missense_Mutation SNP T T C TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr11:3723762T>C ENST00000324932.7 - 23.0 3863 c.3443A>G c.(3442-3444)gAa>gGa p.E1148G NUP98_ENST00000355260.3_Missense_Mutation_p.E1148G|NUP98_ENST00000359171.4_Missense_Mutation_p.E1148G NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1165.0 carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654) peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215) 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) 66.0 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) ATTTTCTAGTTCATGAGAGCC 0.458 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML Dom yes 11 11p15 4928.0 nucleoporin 98kDa L 0 131.0 121.0 125.0 11 3723762.0 2201.0 4298.0 6499.0 SO:0001583 missense AF071076, AF231130, BC012906, BG773331 CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1 11p15 2008-02-26 2002-08-29 ENSG00000110713 ENSG00000110713 4928.0 4928.0 8068.0 protein-coding gene gene with protein product 601021 """nucleoporin 98kD""" 9166830 Standard NM_016320 NM_139131 Approved NUP96 uc001lyh.3 P52948 OTTHUMG00000011846 ENST00000324932.7:c.3443A>G 11.__UNKNOWN__:g.3723762T>C ENSP00000316032:p.Glu1148Gly Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5 __UNKNOWN__ CCDS7746.1 . . . . . . . . . . T 13.42 2.230529 0.39399 . . ENSG00000110713 ENST00000324932;ENST00000359171;ENST00000355260 . . . 5.35 5.35 0.76521 . 0.494558 0.22873 N 0.054611 T 0.27967 0.0689 N 0.21448 0.665 0.23162 N 0.998191 B;B 0.15930 0.015;0.005 B;B 0.12156 0.007;0.004 T 0.13176 -1.0519 9 0.22706 T 0.39 -10.1208 10.5993 0.45358 0.0:0.0783:0.0:0.9217 . 1148;1148 P52948-2;P52948-5 .;. G 1148 . ENSP00000316032:E1148G E - 2 0 NUP98 3680338 0.799000 0.28903 0.994000 0.49952 0.959000 0.62525 4.389000 0.59639 2.018000 0.59344 0.379000 0.24179 GAA NUP98-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000032766.3 - ENST00000324932.7 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 TCAP 8557 broad.mit.edu 37 17 37822231 37822231 + Missense_Mutation SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr17:37822231G>A ENST00000309889.2 + 2.0 1546 c.373G>A c.(373-375)Ggc>Agc p.G125S TCAP_ENST00000578283.1_Missense_Mutation_p.G101S O15273 TELT_HUMAN titin-cap 125.0 adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756) cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018) FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080) kidney(1)|lung(1) 2.0 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) AGCCCTGGGTGGCCAGTGTGT 0.662 0 42.0 41.0 41.0 17 37822231.0 2201.0 4299.0 6500.0 SO:0001583 missense AJ000491 CCDS11342.1 17q12 2014-09-17 2012-09-20 ENSG00000173991 ENSG00000173991 8557.0 8557.0 11610.0 protein-coding gene gene with protein product """19 kDa sarcomeric protein""" 604488 """limb girdle muscular dystrophy 2G (autosomal recessive)"", ""titin-cap (telethonin)""" LGMD2G 9350988, 9817758 Standard NM_003673 NM_003673 Approved T-cap, TELE, telethonin, CMD1N uc002hsh.3 O15273 OTTHUMG00000133215 ENST00000309889.2:c.373G>A 17.__UNKNOWN__:g.37822231G>A ENSP00000312624:p.Gly125Ser Q96L27 __UNKNOWN__ CCDS11342.1 . . . . . . . . . . G 16.04 3.011207 0.54361 . . ENSG00000173991 ENST00000309889 D 0.89485 -2.52 5.71 5.71 0.89125 . 0.000000 0.85682 D 0.000000 D 0.90628 0.7061 L 0.29908 0.895 0.58432 D 0.999999 D 0.76494 0.999 D 0.72982 0.979 D 0.91387 0.5132 10 0.87932 D 0 -28.1079 14.258 0.66065 0.0:0.1494:0.8506:0.0 . 125 O15273 TELT_HUMAN S 125 ENSP00000312624:G125S ENSP00000312624:G125S G + 1 0 TCAP 35075757 1.000000 0.71417 1.000000 0.80357 0.968000 0.65278 4.544000 0.60691 2.695000 0.91970 0.462000 0.41574 GGC TCAP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256942.1 + ENST00000309889.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 BPIFB6 128859 broad.mit.edu 37 20 31622624 31622624 + Missense_Mutation SNP C C T TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr20:31622624C>T ENST00000349552.1 + 4.0 358 c.358C>T c.(358-360)Cgg>Tgg p.R120W NM_174897.2 NP_777557.1 Q8NFQ5 BPIB6_HUMAN BPI fold containing family B, member 6 120.0 extracellular region (GO:0005576) lipid binding (GO:0008289) AGCCACCAACCGGCTTCTGCG 0.577 0 T TRP/ARG 1,4405 2.1+/-5.4 0,1,2202 94.0 73.0 80.0 358 1.9 1.0 20 80.0 0,8600 0,0,4300 no missense BPIFB6 NM_174897.2 101 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 benign 120/454 31622624.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AF465767 CCDS13211.1 20q11.21 2011-08-04 2011-07-29 2011-07-29 ENSG00000167104 ENSG00000167104 128859.0 128859.0 """BPI fold containing""" 16504.0 protein-coding gene gene with protein product 614110 """bactericidal/permeability-increasing protein-like 3""" BPIL3 12185532, 21787333 Standard NM_174897 NM_174897 Approved LPLUNC6 uc010zuc.2 Q8NFQ5 OTTHUMG00000032238 ENST00000349552.1:c.358C>T 20.__UNKNOWN__:g.31622624C>T ENSP00000344929:p.Arg120Trp __UNKNOWN__ CCDS13211.1 . . . . . . . . . . c 11.45 1.643887 0.29246 2.27E-4 0.0 ENSG00000167104 ENST00000349552 T 0.06294 3.32 4.21 1.85 0.25348 . 0.260933 0.25692 N 0.028925 T 0.07908 0.0198 M 0.73598 2.24 0.20403 N 0.999909 B 0.16802 0.019 B 0.09377 0.004 T 0.23332 -1.0191 10 0.62326 D 0.03 . 4.2812 0.10833 0.2819:0.5968:0.0:0.1213 . 120 Q8NFQ5 BPIB6_HUMAN W 120 ENSP00000344929:R120W ENSP00000344929:R120W R + 1 2 BPIFB6 31086285 0.996000 0.38824 1.000000 0.80357 0.580000 0.36256 0.139000 0.16036 0.894000 0.36317 -0.282000 0.10007 CGG BPIFB6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078658.2 + ENST00000349552.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 TCAP 8557 broad.mit.edu 37 17 37822179 37822179 + Missense_Mutation SNP G G C TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr17:37822179G>C ENST00000309889.2 + 2.0 1494 c.321G>C c.(319-321)gaG>gaC p.E107D TCAP_ENST00000578283.1_Missense_Mutation_p.E83D O15273 TELT_HUMAN titin-cap 107.0 adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756) cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018) FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080) kidney(1)|lung(1) 2.0 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) AGGAGCGTGAGGACACCCCCA 0.662 0 32.0 32.0 32.0 17 37822179.0 2202.0 4299.0 6501.0 SO:0001583 missense AJ000491 CCDS11342.1 17q12 2014-09-17 2012-09-20 ENSG00000173991 ENSG00000173991 8557.0 8557.0 11610.0 protein-coding gene gene with protein product """19 kDa sarcomeric protein""" 604488 """limb girdle muscular dystrophy 2G (autosomal recessive)"", ""titin-cap (telethonin)""" LGMD2G 9350988, 9817758 Standard NM_003673 NM_003673 Approved T-cap, TELE, telethonin, CMD1N uc002hsh.3 O15273 OTTHUMG00000133215 ENST00000309889.2:c.321G>C 17.__UNKNOWN__:g.37822179G>C ENSP00000312624:p.Glu107Asp Q96L27 __UNKNOWN__ CCDS11342.1 . . . . . . . . . . G 6.781 0.513140 0.12944 . . ENSG00000173991 ENST00000309889 D 0.87334 -2.24 5.71 3.72 0.42706 . 0.185852 0.38111 N 0.001812 T 0.77191 0.4094 N 0.14661 0.345 0.36777 D 0.884141 B 0.25048 0.117 B 0.35655 0.207 T 0.70773 -0.4781 10 0.28530 T 0.3 -32.8346 7.5129 0.27583 0.3235:0.0:0.6765:0.0 . 107 O15273 TELT_HUMAN D 107 ENSP00000312624:E107D ENSP00000312624:E107D E + 3 2 TCAP 35075705 0.993000 0.37304 1.000000 0.80357 0.044000 0.14063 0.446000 0.21694 0.755000 0.32990 0.462000 0.41574 GAG TCAP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256942.1 + ENST00000309889.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 RP1L1 94137 broad.mit.edu 37 8 10468631 10468631 + Missense_Mutation SNP C C T rs144078596 by1000genomes TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:10468631C>T ENST00000382483.3 - 4.0 3200 c.2977G>A c.(2977-2979)Gac>Aac p.D993N NM_178857.5 NP_849188.4 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 993.0 cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601) axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750) 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) 148.0 COAD - Colon adenocarcinoma(149;0.0811) TCCCCAGGGTCCACCTCGGGG 0.642 C 7.0 0.0032 0.01 2184.0 0.9995 , , 0.0003 0.0033 0.9399 LOWCOV,EXOME 0.0008 SNP 0 C ASN/ASP 25,3741 0,25,1858 47.0 51.0 50.0 2977 3.8 0.3 8 dbSNP_134 50.0 1,8185 0,1,4092 yes missense RP1L1 NM_178857.5 23 0,26,5950 TT,TC,CC 0.0122,0.6638,0.2175 probably-damaging 993/2401 10468631.0 26,11926 1883.0 4093.0 5976.0 SO:0001583 missense AY168346 CCDS43708.1 8p23.1 2011-12-06 ENSG00000183638 ENSG00000183638 94137.0 94137.0 15946.0 protein-coding gene gene with protein product 608581 12634863 Standard NM_178857 Approved DCDC4B uc003wtc.3 Q8IWN7 OTTHUMG00000163806 ENST00000382483.3:c.2977G>A 8.__UNKNOWN__:g.10468631C>T ENSP00000371923:p.Asp993Asn Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2 __UNKNOWN__ CCDS43708.1 7 0.003205128205128205 7 0.014227642276422764 0 0.0 0 0.0 0 0.0 C 11.59 1.683576 0.29872 0.006638 1.22E-4 ENSG00000183638 ENST00000382483 T 0.06371 3.31 4.73 3.83 0.44106 . 1.052620 0.07606 N 0.924514 T 0.04318 0.0119 L 0.32530 0.975 0.09310 N 1 P 0.44090 0.826 B 0.39152 0.292 T 0.37502 -0.9703 10 0.66056 D 0.02 -11.3924 7.2386 0.26084 0.1694:0.7412:0.0:0.0894 . 993 A6NKC6 . N 993 ENSP00000371923:D993N ENSP00000371923:D993N D - 1 0 RP1L1 10506041 0.009000 0.17119 0.262000 0.24481 0.050000 0.14768 0.552000 0.23376 1.159000 0.42565 0.462000 0.41574 GAC RP1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000375673.1 - ENST00000382483.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 ABCD3 5825 broad.mit.edu 37 1 94884143 94884143 + Splice_Site SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr1:94884143G>A ENST00000370214.4 + 1.0 133 c.109G>A c.(109-111)Ggt>Agt p.G37S ABCD3_ENST00000394233.2_Splice_Site_p.G37S|ABCD3_ENST00000315713.5_Splice_Site_p.G37S|ABCD3_ENST00000536817.1_5'UTR|ABCD3_ENST00000454898.2_Splice_Site_p.G37R NM_002858.3 NP_002849.1 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D (ALD), member 3 37.0 Interaction with PEX19.|Targeting to peroxisomes. ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760) cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803) breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26.0 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) CGGCCTGCACGGGTAAGAAGG 0.701 0 14.0 14.0 14.0 1 94884143.0 2196.0 4292.0 6488.0 SO:0001630 splice_region_variant M81182 CCDS749.1, CCDS44175.1 1p21.3 2012-05-16 ENSG00000117528 ENSG00000117528 5825.0 5825.0 """ATP binding cassette transporters / subfamily D""" 67.0 protein-coding gene gene with protein product 170995 PXMP1 1301993, 8449508 Standard NM_002858 NM_002858 Approved PMP70, ZWS2 uc001dqn.4 P28288 OTTHUMG00000010717 ENST00000370214.4:c.110+1G>A 1.__UNKNOWN__:g.94884143G>A D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529 __UNKNOWN__ CCDS749.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 5.014|5.014 0.188187|0.188187 0.09547|0.09547 .|. .|. ENSG00000117528|ENSG00000117528 ENST00000454898|ENST00000394233;ENST00000370214;ENST00000315713 D|D;D;D 0.95171|0.99136 -3.63|-3.13;-3.21;-5.47 4.09|4.09 2.19|2.19 0.27852|0.27852 .|. 0.594242|0.594242 0.15978|0.15978 N|N 0.235450|0.235450 D|D 0.86356|0.86356 0.5913|0.5913 N|N 0.02539|0.02539 -0.55|-0.55 0.80722|0.80722 D|D 1|1 B|B;B;B 0.02656|0.31989 0.0|0.35;0.006;0.003 B|B;B;B 0.01281|0.20577 0.0|0.03;0.0;0.001 D|D 0.84062|0.84062 0.0375|0.0375 10|10 0.11794|0.08381 T|T 0.64|0.77 -5.6528|-5.6528 7.6496|7.6496 0.28340|0.28340 0.2061:0.0:0.7939:0.0|0.2061:0.0:0.7939:0.0 .|. 37|37;37;37 E7EUE1|P28288-2;P28288;P28288-3 .|.;ABCD3_HUMAN;. R|S 37|37 ENSP00000403357:G37R|ENSP00000377780:G37S;ENSP00000359233:G37S;ENSP00000326880:G37S ENSP00000403357:G37R|ENSP00000326880:G37S G|G +|+ 1|1 0|0 ABCD3|ABCD3 94656731|94656731 0.998000|0.998000 0.40836|0.40836 0.995000|0.995000 0.50966|0.50966 0.220000|0.220000 0.24768|0.24768 0.967000|0.967000 0.29344|0.29344 0.488000|0.488000 0.27723|0.27723 0.484000|0.484000 0.47621|0.47621 GGG|GGT ABCD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000029597.1 Missense_Mutation + ENST00000370214.4 Splice_Site SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 SCRIB 23513 broad.mit.edu 37 8 144890795 144890795 + Missense_Mutation SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:144890795G>A ENST00000356994.2 - 15.0 2105 c.2099C>T c.(2098-2100)tCt>tTt p.S700F SCRIB_ENST00000377533.3_Missense_Mutation_p.S619F|SCRIB_ENST00000320476.3_Missense_Mutation_p.S700F NM_182706.4 NP_874365 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 700.0 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060) basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750) p.S700F(1) 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) 42.0 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AGAGGGCGCAGAAACCACGGC 0.652 Pancreas(51;966 1133 10533 14576 29674) 1 Substitution - Missense(1) pancreas(1) 153.0 131.0 138.0 8 144890795.0 2203.0 4300.0 6503.0 SO:0001583 missense AY062238 CCDS6411.1, CCDS6412.1 8q24.3 2013-03-05 2013-03-05 ENSG00000180900 ENSG00000180900 23513.0 23513.0 30377.0 protein-coding gene gene with protein product 607733 """scribbled homolog (Drosophila)""" 11027293, 14681682 Standard NM_015356 NM_182706 Approved KIAA0147, SCRB1, Vartul uc003yzo.1 Q14160 OTTHUMG00000165154 ENST00000356994.2:c.2099C>T 8.__UNKNOWN__:g.144890795G>A ENSP00000349486:p.Ser700Phe Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1 __UNKNOWN__ CCDS6412.1 . . . . . . . . . . g 12.91 2.079560 0.36662 . . ENSG00000180900 ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539;ENST00000531942 T;T;T;T 0.37915 1.4;1.37;1.17;1.82 4.2 4.2 0.49525 PDZ/DHR/GLGF (1); . . . . T 0.21550 0.0519 N 0.08118 0 0.20074 N 0.999939 P;P 0.42296 0.666;0.775 B;B 0.38056 0.202;0.264 T 0.11916 -1.0568 9 0.72032 D 0.01 . 13.6545 0.62330 0.0:0.0:1.0:0.0 . 700;700 Q14160;Q14160-3 SCRIB_HUMAN;. F 700;700;619;69;18 ENSP00000349486:S700F;ENSP00000322938:S700F;ENSP00000366756:S619F;ENSP00000433546:S18F ENSP00000322938:S700F S - 2 0 SCRIB 144962783 0.101000 0.21875 0.009000 0.14445 0.059000 0.15707 1.526000 0.35964 2.074000 0.62210 0.401000 0.26515 TCT SCRIB-002 NOVEL not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000382214.2 - ENST00000356994.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 DOCK7 85440 broad.mit.edu 37 1 63042971 63042971 + Missense_Mutation SNP C C G TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr1:63042971C>G ENST00000340370.5 - 18.0 2091 c.2074G>C c.(2074-2076)Gaa>Caa p.E692Q DOCK7_ENST00000251157.5_Missense_Mutation_p.E692Q NM_033407.2 NP_212132.2 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 692.0 DHR-1. activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264) axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005) guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365) 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) 92.0 GGTGGTTTTTCCAATGAGACT 0.368 0 73.0 72.0 72.0 1 63042971.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS30734.1, CCDS60156.1, CCDS60157.1 1p32.1 2008-02-05 ENSG00000116641 ENSG00000116641 85440.0 85440.0 19190.0 protein-coding gene gene with protein product 615730 12432077 Standard NM_033407 NM_033407 Approved KIAA1771, ZIR2 uc001daq.4 Q96N67 OTTHUMG00000013131 ENST00000340370.5:c.2074G>C 1.__UNKNOWN__:g.63042971C>G ENSP00000340742:p.Glu692Gln Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092 __UNKNOWN__ CCDS30734.1 . . . . . . . . . . C 25.6 4.655116 0.88056 . . ENSG00000116641 ENST00000371140;ENST00000251157;ENST00000340370 T;T 0.14766 2.48;2.48 5.24 5.24 0.73138 . 0.000000 0.85682 D 0.000000 T 0.41050 0.1142 M 0.80982 2.52 0.80722 D 1 D;P;P;D 0.63880 0.987;0.848;0.923;0.993 D;P;P;D 0.65573 0.936;0.69;0.781;0.936 T 0.31280 -0.9949 10 0.72032 D 0.01 . 19.0274 0.92937 0.0:1.0:0.0:0.0 . 692;692;692;692 Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3 .;.;.;. Q 692 ENSP00000251157:E692Q;ENSP00000340742:E692Q ENSP00000251157:E692Q E - 1 0 DOCK7 62815559 1.000000 0.71417 1.000000 0.80357 0.744000 0.42396 7.651000 0.83577 2.729000 0.93468 0.467000 0.42956 GAA DOCK7-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000036806.1 - ENST00000340370.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 MAML1 9794 broad.mit.edu 37 5 179193271 179193271 + Silent SNP G G T TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr5:179193271G>T ENST00000292599.3 + 2.0 1523 c.1260G>T c.(1258-1260)ccG>ccT p.P420P MAML1_ENST00000503050.1_3'UTR NM_014757.4 NP_055572.1 mastermind-like 1 (Drosophila) 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) 36.0 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) AGGCCACCCCGGCACCAGCCC 0.652 0 62.0 76.0 71.0 5 179193271.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D83785 CCDS34315.1 5q35 2008-07-18 2001-11-28 ENSG00000161021 9794.0 9794.0 13632.0 protein-coding gene gene with protein product """mastermind homolog""" 605424 """mastermind (drosophila)-like 1""" 11101851, 11390662 Standard NM_014757 NM_014757 Approved KIAA0200, Mam-1 uc003mkm.3 Q92585 ENST00000292599.3:c.1260G>T 5.__UNKNOWN__:g.179193271G>T __UNKNOWN__ CCDS34315.1 MAML1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000372316.2 + ENST00000292599.3 Silent SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 SOX9 6662 broad.mit.edu 37 17 70117789 70117789 + Nonsense_Mutation SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr17:70117789G>A ENST00000245479.2 + 1.0 629 c.257G>A c.(256-258)tGg>tAg p.W86* NM_000346.3 NP_000337.1 P48436 SOX9_HUMAN SRY (sex determining region Y)-box 9 86.0 astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190) nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234) chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26.0 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) GGCTACGACTGGACGCTGGTG 0.652 Pancreas(42;83 1041 2320 35205 39456) 0 GRCh37 CM971404 SOX9 M 50.0 35.0 40.0 17 70117789.0 2202.0 4300.0 6502.0 SO:0001587 stop_gained S74506 CCDS11689.1 17q24.3 2013-10-17 2008-07-31 ENSG00000125398 ENSG00000125398 6662.0 6662.0 """SRY (sex determining region Y)-boxes""" 11204.0 protein-coding gene gene with protein product 608160 """campomelic dysplasia, autosomal sex-reversal""" CMD1, CMPD1 8348155 Standard NM_000346 NM_000346 Approved SRA1 uc002jiw.3 P48436 OTTHUMG00000166300 ENST00000245479.2:c.257G>A 17.__UNKNOWN__:g.70117789G>A ENSP00000245479:p.Trp86* Q53Y80 __UNKNOWN__ CCDS11689.1 . . . . . . . . . . G 41 8.778802 0.98950 . . ENSG00000125398 ENST00000245479;ENST00000455872 . . . 4.24 4.24 0.50183 . 0.000000 0.85682 U 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 16.6249 0.84967 0.0:0.0:1.0:0.0 . . . . X 86 . ENSP00000245479:W86X W + 2 0 SOX9 67629384 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 9.577000 0.98196 1.917000 0.55516 0.491000 0.48974 TGG SOX9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389032.1 + ENST00000245479.2 Nonsense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 WHSC1 7468 broad.mit.edu 37 4 1918661 1918661 + Missense_Mutation SNP G G T TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr4:1918661G>T ENST00000382895.3 + 6.0 1255 c.824G>T c.(823-825)tGg>tTg p.W275L WHSC1_ENST00000503128.1_Missense_Mutation_p.W275L|WHSC1_ENST00000514045.1_Missense_Mutation_p.W275L|WHSC1_ENST00000420906.2_Missense_Mutation_p.W275L|WHSC1_ENST00000398261.1_Missense_Mutation_p.W275L|WHSC1_ENST00000508803.1_Missense_Mutation_p.W275L|WHSC1_ENST00000382892.2_Missense_Mutation_p.W275L|WHSC1_ENST00000382891.5_Missense_Mutation_p.W275L NM_133330.2 NP_579877.1 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 275.0 PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}. anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48.0 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GAAAGAGCTTGGATATTTGAG 0.408 T IGH@ MM Dom yes 4 4p16.3 7468.0 Wolf-Hirschhorn syndrome candidate 1(MMSET) L 0 83.0 87.0 86.0 4 1918661.0 2203.0 4300.0 6503.0 SO:0001583 missense AF083386 CCDS3356.1, CCDS33940.1, CCDS46999.1 4p16.3 2013-05-20 ENSG00000109685 ENSG00000109685 7468.0 7468.0 """Zinc fingers, PHD-type""" 12766.0 protein-coding gene gene with protein product 602952 9618163, 9787135 Standard NM_133330 NM_133334 Approved MMSET, NSD2 uc003gdz.4 O96028 OTTHUMG00000121147 ENST00000382895.3:c.824G>T 4.__UNKNOWN__:g.1918661G>T ENSP00000372351:p.Trp275Leu A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2 __UNKNOWN__ CCDS33940.1 . . . . . . . . . . G 23.7 4.449241 0.84101 . . ENSG00000109685 ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261 T;T;T;T;T;T;T;T;T 0.76316 -1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01 5.25 5.25 0.73442 PWWP (3); 0.000000 0.53938 D 0.000041 D 0.87160 0.6108 M 0.65320 2 0.80722 D 1 D;D;D;D 0.89917 1.0;0.964;1.0;1.0 D;P;D;D 0.87578 0.998;0.703;0.998;0.997 D 0.87886 0.2681 10 0.87932 D 0 . 19.0434 0.93011 0.0:0.0:1.0:0.0 . 275;275;275;275 O96028-3;O96028;O96028-5;O96028-6 .;NSD2_HUMAN;.;. L 275 ENSP00000423972:W275L;ENSP00000421681:W275L;ENSP00000372347:W275L;ENSP00000372348:W275L;ENSP00000399251:W275L;ENSP00000372351:W275L;ENSP00000425761:W275L;ENSP00000422878:W275L;ENSP00000381311:W275L ENSP00000308780:W275L W + 2 0 WHSC1 1888459 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.755000 0.68750 2.717000 0.92951 0.655000 0.94253 TGG WHSC1-008 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000366269.2 + ENST00000382895.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 SPDL1 54908 broad.mit.edu 37 5 169025544 169025544 + Missense_Mutation SNP A A G TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr5:169025544A>G ENST00000265295.4 + 9.0 1376 c.1097A>G c.(1096-1098)tAt>tGt p.Y366C NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 GATAACACCTATTATACAGAT 0.343 0 156.0 162.0 160.0 5 169025544.0 2203.0 4300.0 6503.0 SO:0001583 missense BC012568 CCDS4370.1 5q35.1 2012-09-27 2012-09-27 2012-09-27 ENSG00000040275 ENSG00000040275 54908.0 54908.0 26010.0 protein-coding gene gene with protein product """spindly homolog (Drosophila)""" """coiled-coil domain containing 99""" CCDC99 20427577 Standard NM_017785 NM_017785 Approved FLJ20364, hSpindly uc003mae.4 Q96EA4 OTTHUMG00000130438 ENST00000265295.4:c.1097A>G 5.__UNKNOWN__:g.169025544A>G ENSP00000265295:p.Tyr366Cys __UNKNOWN__ CCDS4370.1 . . . . . . . . . . A 24.9 4.578880 0.86645 . . ENSG00000040275 ENST00000265295;ENST00000274631 T 0.36520 1.25 5.85 5.85 0.93711 . 0.000000 0.85682 D 0.000000 T 0.60274 0.2256 M 0.71581 2.175 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.961;0.999;0.999 T 0.60576 -0.7236 10 0.46703 T 0.11 -14.0864 16.2332 0.82358 1.0:0.0:0.0:0.0 . 288;267;366 B4E393;Q96EA4-2;Q96EA4 .;.;SPDLY_HUMAN C 366;267 ENSP00000265295:Y366C ENSP00000265295:Y366C Y + 2 0 CCDC99 168958122 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 4.857000 0.62939 2.233000 0.73108 0.523000 0.50628 TAT SPDL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252829.2 + ENST00000265295.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 RP1L1 94137 broad.mit.edu 37 8 10467864 10467864 + Silent SNP C C A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:10467864C>A ENST00000382483.3 - 4.0 3967 c.3744G>T c.(3742-3744)ggG>ggT p.G1248G NM_178857.5 NP_849188.4 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1248.0 cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601) axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750) 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) 148.0 COAD - Colon adenocarcinoma(149;0.0811) TTTCCAGATCCCCTGGGCTCT 0.552 0 65.0 68.0 67.0 8 10467864.0 1989.0 4155.0 6144.0 SO:0001819 synonymous_variant AY168346 CCDS43708.1 8p23.1 2011-12-06 ENSG00000183638 ENSG00000183638 94137.0 94137.0 15946.0 protein-coding gene gene with protein product 608581 12634863 Standard NM_178857 Approved DCDC4B uc003wtc.3 Q8IWN7 OTTHUMG00000163806 ENST00000382483.3:c.3744G>T 8.__UNKNOWN__:g.10467864C>A Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2 __UNKNOWN__ CCDS43708.1 RP1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000375673.1 - ENST00000382483.3 Silent SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 RP1L1 94137 broad.mit.edu 37 8 10467982 10467982 + Missense_Mutation SNP C C T TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:10467982C>T ENST00000382483.3 - 4.0 3849 c.3626G>A c.(3625-3627)gGc>gAc p.G1209D NM_178857.5 NP_849188.4 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1209.0 cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601) axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750) 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) 148.0 COAD - Colon adenocarcinoma(149;0.0811) CTCCCCTGAGCCTCCAGAGCC 0.607 0 33.0 37.0 36.0 8 10467982.0 2084.0 4206.0 6290.0 SO:0001583 missense AY168346 CCDS43708.1 8p23.1 2011-12-06 ENSG00000183638 ENSG00000183638 94137.0 94137.0 15946.0 protein-coding gene gene with protein product 608581 12634863 Standard NM_178857 Approved DCDC4B uc003wtc.3 Q8IWN7 OTTHUMG00000163806 ENST00000382483.3:c.3626G>A 8.__UNKNOWN__:g.10467982C>T ENSP00000371923:p.Gly1209Asp Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2 __UNKNOWN__ CCDS43708.1 . . . . . . . . . . C 14.99 2.700214 0.48307 . . ENSG00000183638 ENST00000382483 T 0.14640 2.49 4.74 3.87 0.44632 . 0.000000 0.35615 N 0.003081 T 0.24851 0.0603 L 0.32530 0.975 0.42507 D 0.992958 D 0.76494 0.999 D 0.75484 0.986 T 0.01884 -1.1254 10 0.87932 D 0 -23.6406 11.7518 0.51853 0.0:0.9151:0.0:0.0849 . 1209 A6NKC6 . D 1209 ENSP00000371923:G1209D ENSP00000371923:G1209D G - 2 0 RP1L1 10505392 0.991000 0.36638 0.205000 0.23548 0.044000 0.14063 3.786000 0.55431 1.202000 0.43218 0.561000 0.74099 GGC RP1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000375673.1 - ENST00000382483.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 SCRIB 23513 broad.mit.edu 37 8 144895531 144895531 + Missense_Mutation SNP G G C TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:144895531G>C ENST00000356994.2 - 6.0 523 c.517C>G c.(517-519)Ctg>Gtg p.L173V SCRIB_ENST00000377533.3_Missense_Mutation_p.L92V|SCRIB_ENST00000320476.3_Missense_Mutation_p.L173V NM_182706.4 NP_874365 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 173.0 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060) basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750) 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) 42.0 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AGCTTGACCAGAAATGACAGG 0.642 Pancreas(51;966 1133 10533 14576 29674) 0 70.0 71.0 71.0 8 144895531.0 2203.0 4300.0 6503.0 SO:0001583 missense AY062238 CCDS6411.1, CCDS6412.1 8q24.3 2013-03-05 2013-03-05 ENSG00000180900 ENSG00000180900 23513.0 23513.0 30377.0 protein-coding gene gene with protein product 607733 """scribbled homolog (Drosophila)""" 11027293, 14681682 Standard NM_015356 NM_182706 Approved KIAA0147, SCRB1, Vartul uc003yzo.1 Q14160 OTTHUMG00000165154 ENST00000356994.2:c.517C>G 8.__UNKNOWN__:g.144895531G>C ENSP00000349486:p.Leu173Val Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1 __UNKNOWN__ CCDS6412.1 . . . . . . . . . . G 26.4 4.735786 0.89482 . . ENSG00000180900 ENST00000356994;ENST00000320476;ENST00000377533 T;T;T 0.34275 1.37;1.37;1.37 4.28 4.28 0.50868 . . . . . T 0.63510 0.2517 M 0.83483 2.645 0.80722 D 1 D;D 0.76494 0.999;0.998 D;D 0.91635 0.999;0.98 T 0.71444 -0.4591 9 0.87932 D 0 . 16.0607 0.80836 0.0:0.0:1.0:0.0 . 173;173 Q14160;Q14160-3 SCRIB_HUMAN;. V 173;173;92 ENSP00000349486:L173V;ENSP00000322938:L173V;ENSP00000366756:L92V ENSP00000322938:L173V L - 1 2 SCRIB 144967519 1.000000 0.71417 0.998000 0.56505 0.954000 0.61252 6.256000 0.72473 2.069000 0.61940 0.563000 0.77884 CTG SCRIB-002 NOVEL not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000382214.2 - ENST00000356994.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 TCAP 8557 broad.mit.edu 37 17 37822068 37822068 + Silent SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr17:37822068G>A ENST00000309889.2 + 2.0 1383 c.210G>A c.(208-210)cgG>cgA p.R70R TCAP_ENST00000578283.1_Intron O15273 TELT_HUMAN titin-cap 70.0 R -> W (in CMD1N). {ECO:0000269|PubMed:16352453}. adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756) cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018) FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080) kidney(1)|lung(1) 2.0 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TGATGATGCGGATGGGCATCC 0.662 0 27.0 25.0 26.0 17 37822068.0 2200.0 4299.0 6499.0 SO:0001819 synonymous_variant AJ000491 CCDS11342.1 17q12 2014-09-17 2012-09-20 ENSG00000173991 ENSG00000173991 8557.0 8557.0 11610.0 protein-coding gene gene with protein product """19 kDa sarcomeric protein""" 604488 """limb girdle muscular dystrophy 2G (autosomal recessive)"", ""titin-cap (telethonin)""" LGMD2G 9350988, 9817758 Standard NM_003673 NM_003673 Approved T-cap, TELE, telethonin, CMD1N uc002hsh.3 O15273 OTTHUMG00000133215 ENST00000309889.2:c.210G>A 17.__UNKNOWN__:g.37822068G>A Q96L27 __UNKNOWN__ CCDS11342.1 TCAP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256942.1 + ENST00000309889.2 Silent SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 PPARD 5467 broad.mit.edu 37 6 35387985 35387985 + Missense_Mutation SNP A A G TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr6:35387985A>G ENST00000311565.4 + 5.0 561 c.212A>G c.(211-213)aAc>aGc p.N71S PPARD_ENST00000418635.2_Intron|PPARD_ENST00000448077.2_Missense_Mutation_p.N32S|PPARD_ENST00000444397.1_Missense_Mutation_p.N71S|PPARD_ENST00000360694.3_Missense_Mutation_p.N71S|PPARD_ENST00000540939.1_Intron|PPARD_ENST00000337400.2_Missense_Mutation_p.N71S NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 71.0 adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060) nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23.0 Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) GGCAGCCTCAACATGGAGTGC 0.652 0 74.0 64.0 67.0 6 35387985.0 2203.0 4300.0 6503.0 SO:0001583 missense L07592 CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1 6p21.2 2013-01-16 2006-10-17 ENSG00000112033 ENSG00000112033 5467.0 5467.0 """Nuclear hormone receptors""" 9235.0 protein-coding gene gene with protein product 600409 """peroxisome proliferative activated receptor, delta""" 1333051 Standard NM_006238 NM_177435 Approved NUC1, NUCII, FAAR, NR1C2 uc003okm.3 Q03181 OTTHUMG00000014567 ENST00000311565.4:c.212A>G 6.__UNKNOWN__:g.35387985A>G ENSP00000310928:p.Asn71Ser A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4 __UNKNOWN__ CCDS4803.1 . . . . . . . . . . A 14.61 2.587711 0.46110 . . ENSG00000112033 ENST00000448077;ENST00000360694;ENST00000444397;ENST00000311565;ENST00000337400 D;D;D;D;D 0.96136 -3.92;-3.92;-3.92;-3.92;-3.92 5.15 5.15 0.70609 Zinc finger, nuclear hormone receptor-type (2); 0.154373 0.64402 D 0.000016 D 0.85474 0.5705 N 0.16656 0.425 0.80722 D 1 B;B;B 0.11235 0.003;0.001;0.004 B;B;B 0.08055 0.002;0.001;0.003 T 0.81767 -0.0782 10 0.24483 T 0.36 . 15.1482 0.72674 1.0:0.0:0.0:0.0 . 32;71;71 B7Z3W1;Q03181;F1D8S7 .;PPARD_HUMAN;. S 32;71;71;71;71 ENSP00000414372:N32S;ENSP00000353916:N71S;ENSP00000410837:N71S;ENSP00000310928:N71S;ENSP00000337063:N71S ENSP00000310928:N71S N + 2 0 PPARD 35495963 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 3.430000 0.52807 2.165000 0.68154 0.528000 0.53228 AAC PPARD-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040288.1 + ENST00000311565.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 GPR156 165829 broad.mit.edu 37 3 119962585 119962585 + Missense_Mutation SNP T T A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr3:119962585T>A ENST00000464295.1 - 3.0 580 c.135A>T c.(133-135)ttA>ttT p.L45F GPR156_ENST00000461057.1_Missense_Mutation_p.L45F|GPR156_ENST00000315843.3_Missense_Mutation_p.L45F Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 45.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled GABA receptor activity (GO:0004965) breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32.0 GBM - Glioblastoma multiforme(114;0.19) GGACAGGAGATAATGAAGAGA 0.423 0 132.0 118.0 122.0 3 119962585.0 2203.0 4300.0 6503.0 SO:0001583 missense AF488739 CCDS2997.1, CCDS54629.1 3q13.33 2012-08-21 ENSG00000175697 ENSG00000175697 165829.0 165829.0 """GPCR / Class C : Orphans""" 20844.0 protein-coding gene gene with protein product 610464 12591167 Standard NM_153002 NM_153002 Approved PGR28, GABABL uc011bjf.2 Q8NFN8 OTTHUMG00000159406 ENST00000464295.1:c.135A>T 3.__UNKNOWN__:g.119962585T>A ENSP00000417261:p.Leu45Phe B7ZL66|E9PFZ4|Q14CM1|Q86SN6 __UNKNOWN__ CCDS2997.1 . . . . . . . . . . T 14.20 2.464650 0.43736 . . ENSG00000175697 ENST00000464295;ENST00000315843;ENST00000461057 T;T;T 0.26067 1.76;1.76;1.77 4.99 -1.78 0.07957 . 0.405345 0.20307 N 0.094908 T 0.21267 0.0512 N 0.19112 0.55 0.38380 D 0.94511 D;D 0.58268 0.982;0.982 P;P 0.53450 0.726;0.726 T 0.04053 -1.0981 9 . . . -3.1498 10.4586 0.44565 0.0:0.6504:0.0:0.3496 . 45;45 E9PFZ4;Q8NFN8 .;GP156_HUMAN F 45 ENSP00000417261:L45F;ENSP00000324553:L45F;ENSP00000418758:L45F . L - 3 2 GPR156 121445275 0.932000 0.31603 0.966000 0.40874 0.998000 0.95712 -0.185000 0.09684 -0.537000 0.06290 0.529000 0.55759 TTA GPR156-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000355139.1 - ENST00000464295.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 SCRIB 23513 broad.mit.edu 37 8 144891006 144891006 + Nonsense_Mutation SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:144891006G>A ENST00000356994.2 - 15.0 1894 c.1888C>T c.(1888-1890)Cag>Tag p.Q630* SCRIB_ENST00000377533.3_Nonsense_Mutation_p.Q549*|SCRIB_ENST00000320476.3_Nonsense_Mutation_p.Q630* NM_182706.4 NP_874365 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 630.0 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060) basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750) 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) 42.0 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TGCATGCCCTGCAGCAGAGCC 0.667 Pancreas(51;966 1133 10533 14576 29674) 0 84.0 90.0 88.0 8 144891006.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AY062238 CCDS6411.1, CCDS6412.1 8q24.3 2013-03-05 2013-03-05 ENSG00000180900 ENSG00000180900 23513.0 23513.0 30377.0 protein-coding gene gene with protein product 607733 """scribbled homolog (Drosophila)""" 11027293, 14681682 Standard NM_015356 NM_182706 Approved KIAA0147, SCRB1, Vartul uc003yzo.1 Q14160 OTTHUMG00000165154 ENST00000356994.2:c.1888C>T 8.__UNKNOWN__:g.144891006G>A ENSP00000349486:p.Gln630* Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1 __UNKNOWN__ CCDS6412.1 . . . . . . . . . . g 39 7.547443 0.98352 . . ENSG00000180900 ENST00000356994;ENST00000320476;ENST00000377533 . . . 4.68 4.68 0.58851 . . . . . . . . . . . 0.80722 A 1 . . . . . . . . . . 0.21540 T 0.41 . 16.5855 0.84727 0.0:0.0:1.0:0.0 . . . . X 630;630;549 . ENSP00000322938:Q630X Q - 1 0 SCRIB 144962994 1.000000 0.71417 0.999000 0.59377 0.214000 0.24535 9.369000 0.97156 2.153000 0.67306 0.401000 0.26515 CAG SCRIB-002 NOVEL not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000382214.2 - ENST00000356994.2 Nonsense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 NUGGC 389643 broad.mit.edu 37 8 27918013 27918013 + Missense_Mutation SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:27918013G>A ENST00000413272.2 - 8.0 1169 c.1027C>T c.(1027-1029)Cgg>Tgg p.R343W NUGGC_ENST00000341513.6_Missense_Mutation_p.R343W NM_001010906.1 NP_001010906.1 Q68CJ6 SLIP_HUMAN nuclear GTPase, germinal center associated 343.0 cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446) nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924) CAGAAGCCCCGCTGGCAGGCT 0.552 OREG0018675 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 52.0 54.0 53.0 8 27918013.0 1948.0 4129.0 6077.0 SO:0001583 missense AB075870 CCDS47833.1 8p21.1 2012-06-07 2012-06-07 2012-06-07 ENSG00000189233 ENSG00000189233 389643.0 389643.0 33550.0 protein-coding gene gene with protein product """speckled-like pattern in the germinal center""" """chromosome 8 open reading frame 80""" C8orf80 19734146 Standard NM_001010906 NM_001010906 Approved HMFN0672, SLIP-GC uc003xgm.4 Q68CJ6 OTTHUMG00000155970 ENST00000413272.2:c.1027C>T 8.__UNKNOWN__:g.27918013G>A ENSP00000408697:p.Arg343Trp 99.0 Q6ZP73 __UNKNOWN__ CCDS47833.1 . . . . . . . . . . G 19.16 3.774709 0.70107 . . ENSG00000189233 ENST00000413272;ENST00000341513 T;T 0.16324 2.35;2.36 5.67 2.65 0.31530 . 0.144521 0.44483 D 0.000444 T 0.36110 0.0955 M 0.63428 1.95 0.36557 D 0.87218 D 0.89917 1.0 D 0.73708 0.981 T 0.43686 -0.9376 10 0.66056 D 0.02 -16.6457 12.5903 0.56439 0.0:0.0:0.6193:0.3807 . 343 Q68CJ6 SLIP_HUMAN W 343 ENSP00000408697:R343W;ENSP00000345031:R343W ENSP00000345031:R343W R - 1 2 C8orf80 27973932 0.099000 0.21834 0.982000 0.44146 0.990000 0.78478 0.498000 0.22530 0.647000 0.30713 0.585000 0.79938 CGG NUGGC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000342494.1 - ENST00000413272.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 SCRIB 23513 broad.mit.edu 37 8 144891186 144891186 + Missense_Mutation SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:144891186G>A ENST00000356994.2 - 15.0 1714 c.1708C>T c.(1708-1710)Cat>Tat p.H570Y SCRIB_ENST00000377533.3_Missense_Mutation_p.H489Y|SCRIB_ENST00000320476.3_Missense_Mutation_p.H570Y NM_182706.4 NP_874365 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 570.0 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060) basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750) 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) 42.0 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TCTGCGAAATGCACCGTGGGC 0.657 Pancreas(51;966 1133 10533 14576 29674) 0 41.0 41.0 41.0 8 144891186.0 2202.0 4300.0 6502.0 SO:0001583 missense AY062238 CCDS6411.1, CCDS6412.1 8q24.3 2013-03-05 2013-03-05 ENSG00000180900 ENSG00000180900 23513.0 23513.0 30377.0 protein-coding gene gene with protein product 607733 """scribbled homolog (Drosophila)""" 11027293, 14681682 Standard NM_015356 NM_182706 Approved KIAA0147, SCRB1, Vartul uc003yzo.1 Q14160 OTTHUMG00000165154 ENST00000356994.2:c.1708C>T 8.__UNKNOWN__:g.144891186G>A ENSP00000349486:p.His570Tyr Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1 __UNKNOWN__ CCDS6412.1 . . . . . . . . . . g 12.84 2.059063 0.36373 . . ENSG00000180900 ENST00000356994;ENST00000320476;ENST00000377533 T;T;T 0.78246 -1.16;-1.16;-1.16 4.79 4.79 0.61399 . . . . . T 0.77032 0.4071 L 0.46157 1.445 0.54753 D 0.999989 P;P 0.48162 0.906;0.881 B;P 0.46172 0.309;0.506 T 0.80289 -0.1445 9 0.59425 D 0.04 . 16.8367 0.85958 0.0:0.0:1.0:0.0 . 570;570 Q14160;Q14160-3 SCRIB_HUMAN;. Y 570;570;489 ENSP00000349486:H570Y;ENSP00000322938:H570Y;ENSP00000366756:H489Y ENSP00000322938:H570Y H - 1 0 SCRIB 144963174 1.000000 0.71417 0.944000 0.38274 0.008000 0.06430 8.934000 0.92915 2.225000 0.72522 0.401000 0.26515 CAT SCRIB-002 NOVEL not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000382214.2 - ENST00000356994.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 ZKSCAN2 342357 broad.mit.edu 37 16 25264280 25264280 + Missense_Mutation SNP G G C TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr16:25264280G>C ENST00000328086.7 - 3.0 1468 c.665C>G c.(664-666)cCt>cGt p.P222R NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 222.0 regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36.0 GBM - Glioblastoma multiforme(48;0.0378) GGACCCAGCAGGAAGCCGTGT 0.493 0 156.0 154.0 155.0 16 25264280.0 2197.0 4300.0 6497.0 SO:0001583 missense AK026852 CCDS32410.1 16p12.1 2013-01-09 2007-02-20 2007-02-20 ENSG00000155592 342357.0 342357.0 """Zinc fingers, C2H2-type"", ""-"", ""-"", ""-""" 25677.0 protein-coding gene gene with protein product """zinc finger protein 694""" ZNF694 Standard NM_001012981 NM_001012981 Approved FLJ23199, ZSCAN34 uc002dod.4 Q63HK3 ENST00000328086.7:c.665C>G 16.__UNKNOWN__:g.25264280G>C ENSP00000331626:p.Pro222Arg A1L3B4|Q6ZN77 __UNKNOWN__ CCDS32410.1 . . . . . . . . . . G 10.06 1.246960 0.22796 . . ENSG00000155592 ENST00000328086;ENST00000536768 T 0.13657 2.57 5.62 5.62 0.85841 Krueppel-associated box (1); 0.945753 0.08821 N 0.888710 T 0.14570 0.0352 L 0.40543 1.245 0.09310 N 1 P;B 0.37276 0.589;0.435 B;B 0.35073 0.195;0.112 T 0.22556 -1.0213 10 0.22109 T 0.4 -0.549 15.1626 0.72795 0.0:0.0:1.0:0.0 . 222;222 Q63HK3-2;Q63HK3 .;ZKSC2_HUMAN R 222 ENSP00000331626:P222R ENSP00000331626:P222R P - 2 0 ZKSCAN2 25171781 0.180000 0.23148 0.025000 0.17156 0.039000 0.13416 2.536000 0.45693 2.643000 0.89663 0.655000 0.94253 CCT ZKSCAN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000435739.1 - ENST00000328086.7 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 RP11-156P1.2 9570 broad.mit.edu 37 17 45012514 45012514 + Silent SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr17:45012514G>A ENST00000571841.1 + 5.0 516 c.456G>A c.(454-456)agG>agA p.R152R GOSR2_ENST00000439730.2_Silent_p.R152R|GOSR2_ENST00000576910.2_Intron|GOSR2_ENST00000393456.2_Silent_p.R152R|GOSR2_ENST00000225567.4_Silent_p.R152R|GOSR2_ENST00000415811.2_Silent_p.R152R ATGGACTGAGGACCCAGAGAC 0.463 0 140.0 135.0 136.0 17 45012514.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant ENST00000571841.1:c.456G>A 17.__UNKNOWN__:g.45012514G>A __UNKNOWN__ RP11-156P1.2-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay protein_coding OTTHUMT00000440447.1 + ENST00000571841.1 Silent SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 SCRIB 23513 broad.mit.edu 37 8 144886884 144886884 + Missense_Mutation SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:144886884G>A ENST00000356994.2 - 21.0 2869 c.2863C>T c.(2863-2865)Cct>Tct p.P955S SCRIB_ENST00000377533.3_Missense_Mutation_p.P874S|SCRIB_ENST00000320476.3_Missense_Mutation_p.P955S NM_182706.4 NP_874365 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 955.0 Interaction with ARHGEF7. activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060) basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750) 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) 42.0 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GGGCTGGGAGGAAGAGGGCCC 0.697 Pancreas(51;966 1133 10533 14576 29674) 0 23.0 23.0 23.0 8 144886884.0 2198.0 4298.0 6496.0 SO:0001583 missense AY062238 CCDS6411.1, CCDS6412.1 8q24.3 2013-03-05 2013-03-05 ENSG00000180900 ENSG00000180900 23513.0 23513.0 30377.0 protein-coding gene gene with protein product 607733 """scribbled homolog (Drosophila)""" 11027293, 14681682 Standard NM_015356 NM_182706 Approved KIAA0147, SCRB1, Vartul uc003yzo.1 Q14160 OTTHUMG00000165154 ENST00000356994.2:c.2863C>T 8.__UNKNOWN__:g.144886884G>A ENSP00000349486:p.Pro955Ser Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1 __UNKNOWN__ CCDS6412.1 . . . . . . . . . . G 8.055 0.766866 0.15983 . . ENSG00000180900 ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539 T;T;T 0.38401 1.14;1.14;1.14 3.79 0.348 0.16026 PDZ/DHR/GLGF (1); . . . . T 0.27933 0.0688 L 0.57536 1.79 0.09310 N 1 B;B 0.09022 0.001;0.002 B;B 0.10450 0.002;0.005 T 0.31024 -0.9958 9 0.16420 T 0.52 . 4.7128 0.12880 0.1021:0.1378:0.602:0.1581 . 955;955 Q14160;Q14160-3 SCRIB_HUMAN;. S 955;955;874;324 ENSP00000349486:P955S;ENSP00000322938:P955S;ENSP00000366756:P874S ENSP00000322938:P955S P - 1 0 SCRIB 144958872 0.000000 0.05858 0.002000 0.10522 0.125000 0.20455 -0.110000 0.10824 0.231000 0.21079 0.448000 0.29417 CCT SCRIB-002 NOVEL not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000382214.2 - ENST00000356994.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 EIF4G3 8672 broad.mit.edu 37 1 21226240 21226240 + Missense_Mutation SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr1:21226240G>A ENST00000602326.1 - 14.0 2382 c.1799C>T c.(1798-1800)tCa>tTa p.S600L EIF4G3_ENST00000374935.3_Missense_Mutation_p.S314L|EIF4G3_ENST00000536266.1_Missense_Mutation_p.S198L|EIF4G3_ENST00000537738.1_Missense_Mutation_p.S47L|EIF4G3_ENST00000264211.8_Missense_Mutation_p.S594L|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S600L|EIF4G3_ENST00000544689.1_Missense_Mutation_p.S137L|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S594L NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 594.0 cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032) cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281) poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743) 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) 70.0 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) TGTGGAGCCTGAATTAGCATC 0.423 0 280.0 276.0 278.0 1 21226240.0 2203.0 4300.0 6503.0 SO:0001583 missense AF012072 CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1 1p36.12 2008-02-05 ENSG00000075151 ENSG00000075151 8672.0 8672.0 3298.0 protein-coding gene gene with protein product 603929 9418880 Standard NM_003760 NM_001198801 Approved eIF4GII uc001bef.3 O43432 OTTHUMG00000002624 ENST00000602326.1:c.1799C>T 1.__UNKNOWN__:g.21226240G>A ENSP00000473510:p.Ser600Leu B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1 __UNKNOWN__ CCDS55580.1 . . . . . . . . . . G 26.8 4.774580 0.90108 . . ENSG00000075151 ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266;ENST00000374933;ENST00000544689 T;T;T;T;T;T;T 0.53640 0.61;0.61;0.61;0.61;0.61;0.61;0.61 5.45 5.45 0.79879 . 0.224693 0.38959 N 0.001510 T 0.31263 0.0791 N 0.08118 0 0.80722 D 1 P;B;B;P;B 0.45569 0.861;0.179;0.313;0.842;0.081 B;B;B;B;B 0.39339 0.297;0.057;0.124;0.239;0.017 T 0.15694 -1.0428 10 0.33141 T 0.24 -1.5501 19.34 0.94337 0.0:0.0:1.0:0.0 . 789;314;198;600;594 Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432 .;.;.;.;IF4G3_HUMAN L 594;790;594;314;47;600;198;137;137 ENSP00000264211:S594L;ENSP00000383274:S594L;ENSP00000364071:S314L;ENSP00000442010:S47L;ENSP00000364073:S600L;ENSP00000444693:S198L;ENSP00000444401:S137L ENSP00000264211:S594L S - 2 0 EIF4G3 21098827 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 4.954000 0.63631 2.562000 0.86427 0.644000 0.83932 TCA EIF4G3-011 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000467634.1 - ENST00000602326.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 SCRIB 23513 broad.mit.edu 37 8 144888620 144888620 + Missense_Mutation SNP G G C TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:144888620G>C ENST00000356994.2 - 18.0 2309 c.2303C>G c.(2302-2304)cCt>cGt p.P768R SCRIB_ENST00000377533.3_Missense_Mutation_p.P687R|SCRIB_ENST00000320476.3_Missense_Mutation_p.P768R NM_182706.4 NP_874365 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 768.0 Interaction with ARHGEF7.|PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.|Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060) basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750) 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) 42.0 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CCGGGCCGCAGGGCCTTCCTC 0.657 Pancreas(51;966 1133 10533 14576 29674) 0 30.0 31.0 31.0 8 144888620.0 2196.0 4297.0 6493.0 SO:0001583 missense AY062238 CCDS6411.1, CCDS6412.1 8q24.3 2013-03-05 2013-03-05 ENSG00000180900 ENSG00000180900 23513.0 23513.0 30377.0 protein-coding gene gene with protein product 607733 """scribbled homolog (Drosophila)""" 11027293, 14681682 Standard NM_015356 NM_182706 Approved KIAA0147, SCRB1, Vartul uc003yzo.1 Q14160 OTTHUMG00000165154 ENST00000356994.2:c.2303C>G 8.__UNKNOWN__:g.144888620G>C ENSP00000349486:p.Pro768Arg Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1 __UNKNOWN__ CCDS6412.1 . . . . . . . . . . g 29.5 5.007374 0.93287 . . ENSG00000180900 ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539;ENST00000531942 T;T;T;T 0.33216 1.42;1.42;1.42;1.42 4.89 4.89 0.63831 PDZ/DHR/GLGF (4); . . . . T 0.63094 0.2482 M 0.88704 2.975 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 T 0.72080 -0.4398 9 0.87932 D 0 . 17.0679 0.86564 0.0:0.0:1.0:0.0 . 768;768 Q14160;Q14160-3 SCRIB_HUMAN;. R 768;768;687;137;65 ENSP00000349486:P768R;ENSP00000322938:P768R;ENSP00000366756:P687R;ENSP00000433546:P65R ENSP00000322938:P768R P - 2 0 SCRIB 144960608 1.000000 0.71417 0.978000 0.43139 0.990000 0.78478 7.300000 0.78841 2.283000 0.76528 0.651000 0.88453 CCT SCRIB-002 NOVEL not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000382214.2 - ENST00000356994.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MP-Normal-SM-5EMM3 SERPINA10 51156 broad.mit.edu 37 14 94756360 94756360 + Missense_Mutation SNP C C A TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr14:94756360C>A ENST00000393096.1 - 2.0 1036 c.571G>T c.(571-573)Gtg>Ttg p.V191L SERPINA10_ENST00000261994.4_Missense_Mutation_p.V191L|SERPINA10_ENST00000554173.1_Missense_Mutation_p.V191L|SERPINA10_ENST00000554723.1_Missense_Mutation_p.V231L NM_016186.2 NP_057270.1 Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 191.0 blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867) haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33.0 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) TTCATAGGCACGCACTCTGTA 0.418 0 91.0 93.0 92.0 14 94756360.0 2203.0 4300.0 6503.0 SO:0001583 missense AF181467 CCDS9923.1 14q32.13 2014-02-18 2005-08-18 ENSG00000140093 ENSG00000140093 51156.0 51156.0 """Serine (or cysteine) peptidase inhibitors""" 15996.0 protein-coding gene gene with protein product 605271 """serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10""" 10460162, 9689066, 24172014 Standard NM_016186 NM_016186 Approved PZI, ZPI uc001yct.3 Q9UK55 OTTHUMG00000171345 ENST00000393096.1:c.571G>T 14.__UNKNOWN__:g.94756360C>A ENSP00000376809:p.Val191Leu A5Z2A5|Q6UWX9|Q86U20 __UNKNOWN__ CCDS9923.1 . . . . . . . . . . C 0.086 -1.174926 0.01646 . . ENSG00000140093 ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173 D;D;D;D 0.84070 -1.8;-1.8;-1.8;-1.8 4.8 1.89 0.25635 Serpin domain (3); 0.378221 0.21157 N 0.079223 T 0.66107 0.2756 N 0.21240 0.645 0.09310 N 1 B 0.18461 0.028 B 0.22601 0.04 T 0.49570 -0.8926 10 0.27785 T 0.31 . 2.587 0.04833 0.2354:0.4836:0.1284:0.1527 . 191 Q9UK55 ZPI_HUMAN L 231;191;191;191 ENSP00000450896:V231L;ENSP00000376809:V191L;ENSP00000261994:V191L;ENSP00000450971:V191L ENSP00000261994:V191L V - 1 0 SERPINA10 93826113 0.000000 0.05858 0.003000 0.11579 0.131000 0.20780 -0.018000 0.12568 0.431000 0.26258 0.313000 0.20887 GTG SERPINA10-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000413061.1 - ENST00000393096.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR PKHD1 5314 broad.mit.edu 37 6 51944754 51944754 + Missense_Mutation SNP C C T rs149841071 TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr6:51944754C>T ENST00000371117.3 - 5.0 609 c.334G>A c.(334-336)Ggg>Agg p.G112R PKHD1_ENST00000340994.4_Missense_Mutation_p.G112R NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 112.0 cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337) anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372) receptor activity (GO:0004872) 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) 304.0 Lung NSC(77;0.0605) AGCTGTCCCCCGAAGTATGCT 0.463 0 GRCh37 CM051117 PKHD1 M rs149841071 C ARG/GLY,ARG/GLY 1,4405 2.1+/-5.4 0,1,2202 201.0 174.0 184.0 334,334 2.6 0.2 6 dbSNP_134 184.0 5,8595 4.3+/-15.6 0,5,4295 yes missense,missense PKHD1 NM_138694.3,NM_170724.2 125,125 0,6,6497 TT,TC,CC 0.0581,0.0227,0.0461 benign,benign 112/4075,112/3397 51944754.0 6,13000 2203.0 4300.0 6503.0 SO:0001583 missense AF480064 CCDS4935.1, CCDS4936.1 6p21.2-p12 2012-11-26 2003-04-16 ENSG00000170927 ENSG00000170927 5314.0 5314.0 9016.0 protein-coding gene gene with protein product """tigmin"", ""polyductin"", ""fibrocystin""" 606702 """TIG multiple domains 1""" TIGM1 9503014 Standard NM_138694 NM_138694 Approved ARPKD, FCYT uc003pah.1 P08F94 OTTHUMG00000014841 ENST00000371117.3:c.334G>A 6.__UNKNOWN__:g.51944754C>T ENSP00000360158:p.Gly112Arg Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9 __UNKNOWN__ CCDS4935.1 . . . . . . . . . . C 8.509 0.866085 0.17250 2.27E-4 5.81E-4 ENSG00000170927 ENST00000371117;ENST00000340994;ENST00000393616 D;D 0.87412 -2.04;-2.25 5.31 2.56 0.30785 . 0.801692 0.11345 N 0.573607 T 0.69142 0.3078 M 0.66939 2.045 0.09310 N 0.999992 P;P 0.52692 0.83;0.955 B;B 0.37198 0.243;0.243 T 0.59440 -0.7454 10 0.36615 T 0.2 . 4.6693 0.12682 0.0:0.5699:0.1612:0.2689 . 112;112 P08F94-2;P08F94 .;PKHD1_HUMAN R 112 ENSP00000360158:G112R;ENSP00000341097:G112R ENSP00000341097:G112R G - 1 0 PKHD1 52052713 0.027000 0.19231 0.168000 0.22838 0.061000 0.15899 0.817000 0.27281 0.322000 0.23283 -0.136000 0.14681 GGG PKHD1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000040893.1 - ENST00000371117.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR NRCAM 4897 broad.mit.edu 37 7 107799944 107799944 + Missense_Mutation SNP G G T TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr7:107799944G>T ENST00000379024.4 - 29.0 3714 c.3305C>A c.(3304-3306)cCt>cAt p.P1102H NRCAM_ENST00000425651.2_Missense_Mutation_p.P1214H|NRCAM_ENST00000413765.2_Missense_Mutation_p.P1090H|NRCAM_ENST00000379028.3_Missense_Mutation_p.P1214H|NRCAM_ENST00000351718.4_Missense_Mutation_p.P1093H|NRCAM_ENST00000379022.4_Missense_Mutation_p.P1214H NM_001193582.1|NM_001193583.1|NM_001193584.1 NP_001180511.1|NP_001180512.1|NP_001180513.1 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 1214.0 Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}. angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416) axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202) ankyrin binding (GO:0030506) p.P1093H(1) 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) 65.0 TTCCTTCATAGGCTGGATTTC 0.413 1 Substitution - Missense(1) breast(1) 174.0 154.0 161.0 7 107799944.0 2203.0 4299.0 6502.0 SO:0001583 missense CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1 7q31 2013-02-11 ENSG00000091129 ENSG00000091129 4897.0 4897.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 7994.0 protein-coding gene gene with protein product """NgCAM-related cell adhesion molecule""" 601581 8812479 Standard NM_001037132 NM_001037132 Approved KIAA0343, Bravo uc022aka.1 Q92823 OTTHUMG00000154973 ENST00000379024.4:c.3305C>A 7.__UNKNOWN__:g.107799944G>T ENSP00000368310:p.Pro1102His A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4 __UNKNOWN__ CCDS55153.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 26.4|26.4 4.731270|4.731270 0.89390|0.89390 .|. .|. ENSG00000091129|ENSG00000091129 ENST00000445634|ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000437386;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022 .|D;D;D;D;D;D .|0.86956 .|-2.19;-2.19;-2.19;-2.19;-2.19;-2.19 5.74|5.74 5.74|5.74 0.90152|0.90152 .|. .|0.000000 .|0.85682 .|D .|0.000000 D|D 0.92443|0.92443 0.7601|0.7601 L|L 0.55103|0.55103 1.725|1.725 0.80722|0.80722 D|D 1|1 .|D;D;D;D;P;D .|0.89917 .|1.0;1.0;1.0;0.998;0.923;1.0 .|D;D;D;D;P;D .|0.97110 .|0.993;0.999;1.0;0.95;0.79;0.998 D|D 0.92403|0.92403 0.5931|0.5931 5|10 .|0.66056 .|D .|0.02 .|. 19.9187|19.9187 0.97077|0.97077 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. .|1214;60;1090;1102;1093;1214 .|Q92823-5;B4DFP9;Q92823-3;E9PDA4;Q92823-4;Q92823 .|.;.;.;.;.;NRCAM_HUMAN I|H 113|1214;1214;1090;1121;58;1093;1102;1214;1214 .|ENSP00000368314:P1214H;ENSP00000407858:P1090H;ENSP00000325269:P1093H;ENSP00000368310:P1102H;ENSP00000401244:P1214H;ENSP00000368308:P1214H .|ENSP00000325269:P1093H L|P -|- 1|2 2|0 NRCAM|NRCAM 107587180|107587180 1.000000|1.000000 0.71417|0.71417 0.996000|0.996000 0.52242|0.52242 0.985000|0.985000 0.73830|0.73830 9.869000|9.869000 0.99810|0.99810 2.702000|2.702000 0.92279|0.92279 0.591000|0.591000 0.81541|0.81541 CTA|CCT NRCAM-001 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000337863.2 - ENST00000379024.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR MSH6 2956 broad.mit.edu 37 2 48032102 48032102 + Silent SNP G G T TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr2:48032102G>T ENST00000234420.5 + 6.0 3644 c.3492G>T c.(3490-3492)gtG>gtT p.V1164V FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.V1034V|MSH6_ENST00000538136.1_Silent_p.V862V NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 1164.0 ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983) 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) 229.0 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CTGCTGAAGTGTGCAGGCTCA 0.438 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome yes Rec yes Hereditary non-polyposis colorectal cancer 2 2p16 2956.0 mutS homolog 6 (E. coli) E 2 Whole gene deletion(2) haematopoietic_and_lymphoid_tissue(2) 168.0 145.0 153.0 2 48032102.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant Familial Cancer Database Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III U54777 CCDS1836.1, CCDS62906.1, CCDS62907.1 2p16 2014-09-17 2013-09-12 ENSG00000116062 ENSG00000116062 2956.0 2956.0 7329.0 protein-coding gene gene with protein product 600678 """mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)""" GTBP 7604266 Standard NM_000179 NM_000179 Approved uc002rwd.4 P52701 OTTHUMG00000129129 ENST00000234420.5:c.3492G>T 2.__UNKNOWN__:g.48032102G>T B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5 __UNKNOWN__ CCDS1836.1 MSH6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251180.4 + ENST00000234420.5 Silent SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR FLG 2312 broad.mit.edu 37 1 152277659 152277659 + Missense_Mutation SNP C C T TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr1:152277659C>T ENST00000368799.1 - 3.0 9738 c.9703G>A c.(9703-9705)Gct>Act p.A3235T FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3235.0 Ser-rich. establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275) cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198) 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) 424.0 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTTCTGGAAGCAGACCCAGAC 0.592 Ichthyosis 0 176.0 187.0 183.0 1 152277659.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris XM_048104 CCDS30860.1 1q21.3 2013-01-10 ENSG00000143631 ENSG00000143631 2312.0 2312.0 """EF-hand domain containing""" 3748.0 protein-coding gene gene with protein product 135940 2740331, 2248957, 16444271 Standard NM_002016 NM_002016 Approved uc001ezu.1 P20930 OTTHUMG00000012202 ENST00000368799.1:c.9703G>A 1.__UNKNOWN__:g.152277659C>T ENSP00000357789:p.Ala3235Thr Q01720|Q5T583|Q9UC71 __UNKNOWN__ CCDS30860.1 . . . . . . . . . . C 12.01 1.810253 0.32053 . . ENSG00000143631 ENST00000368799;ENST00000368796 T 0.02498 4.27 3.29 -3.18 0.05186 . . . . . T 0.01489 0.0048 M 0.63428 1.95 0.09310 N 1 D 0.53885 0.963 P 0.50570 0.644 T 0.31530 -0.9940 9 0.20519 T 0.43 0.5134 4.1696 0.10324 0.0:0.3385:0.3336:0.3279 . 3235 P20930 FILA_HUMAN T 3235;173 ENSP00000357789:A3235T ENSP00000357786:A173T A - 1 0 FLG 150544283 0.000000 0.05858 0.000000 0.03702 0.093000 0.18481 -2.622000 0.00877 -0.887000 0.03961 0.449000 0.29647 GCT FLG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033742.1 - ENST00000368799.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR APAF1 317 broad.mit.edu 37 12 99117515 99117515 + Silent SNP A A G TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr12:99117515A>G ENST00000551964.1 + 24.0 4039 c.3303A>G c.(3301-3303)tcA>tcG p.S1101S APAF1_ENST00000550527.1_Silent_p.S1090S|APAF1_ENST00000547045.1_Silent_p.S1058S|APAF1_ENST00000549007.1_Silent_p.S1058S|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Silent_p.S1058S|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000359972.2_Silent_p.S1047S|APAF1_ENST00000357310.1_Silent_p.S1058S NM_181861.1 NP_863651.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 1101.0 activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432) apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42.0 Adenosine triphosphate(DB00171) CCAAGTTTTCATCTACCTCTG 0.353 0 107.0 112.0 110.0 12 99117515.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF013263 CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1 12q23 2013-01-10 2006-10-23 ENSG00000120868 317.0 317.0 """WD repeat domain containing""" 576.0 protein-coding gene gene with protein product 602233 """apoptotic protease activating factor"", ""apoptotic peptidase activating factor""" 9267021, 10702682 Standard NM_181861.1 NM_181861 Approved CED4, APAF-1 uc001tfz.3 O14727 OTTHUMG00000170214 ENST00000551964.1:c.3303A>G 12.__UNKNOWN__:g.99117515A>G B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9 __UNKNOWN__ CCDS9069.1 APAF1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000408006.1 + ENST00000551964.1 Silent SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR TDRD7 23424 broad.mit.edu 37 9 100258051 100258051 + Silent SNP C C T TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr9:100258051C>T ENST00000355295.4 + 17.0 3478 c.3183C>T c.(3181-3183)aaC>aaT p.N1061N TDRD7_ENST00000540902.1_Silent_p.N381N|TDRD7_ENST00000422139.2_Silent_p.N987N NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 1061.0 Interacts with CABLES1. {ECO:0000250}.|Interacts with CDK17. {ECO:0000250}. germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283) chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770) mRNA binding (GO:0003729) endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29.0 Acute lymphoblastic leukemia(62;0.158) AAAATGCTAACCCTTGGGACC 0.463 0 171.0 164.0 166.0 9 100258051.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB025254 CCDS6725.1 9q22.33 2013-01-23 ENSG00000196116 ENSG00000196116 23424.0 23424.0 """Tudor domain containing""" 30831.0 protein-coding gene gene with protein product 611258 21436445 Standard NM_014290 NM_014290 Approved PCTAIRE2BP uc004axj.3 Q8NHU6 OTTHUMG00000020326 ENST00000355295.4:c.3183C>T 9.__UNKNOWN__:g.100258051C>T A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3 __UNKNOWN__ CCDS6725.1 TDRD7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053322.1 + ENST00000355295.4 Silent SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR TOP1MT 116447 broad.mit.edu 37 8 144407615 144407615 + Missense_Mutation SNP A A G TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr8:144407615A>G ENST00000523676.1 - 6.0 683 c.278T>C c.(277-279)aTt>aCt p.I93T TOP1MT_ENST00000519148.1_Missense_Mutation_p.I93T|TOP1MT_ENST00000329245.4_Missense_Mutation_p.I191T|TOP1MT_ENST00000521193.1_Missense_Mutation_p.I93T Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial 191.0 DNA replication (GO:0006260)|DNA topological change (GO:0006265) chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918) endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23.0 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) AGGCGGCTCAATCTTGAAGTT 0.473 0 A THR/ILE 1,4405 2.1+/-5.4 0,1,2202 110.0 108.0 109.0 572 1.6 0.3 8 109.0 0,8600 0,0,4300 no missense TOP1MT NM_052963.1 89 0,1,6502 GG,GA,AA 0.0,0.0227,0.0077 benign 191/602 144407615.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AF349018 CCDS6400.1, CCDS59115.1 8q24.3 2006-04-12 ENSG00000184428 116447.0 116447.0 29787.0 protein-coding gene gene with protein product 606387 11526219 Standard NM_052963 NM_052963 Approved uc003yxz.4 Q969P6 ENST00000523676.1:c.278T>C 8.__UNKNOWN__:g.144407615A>G ENSP00000429181:p.Ile93Thr B7ZAR5|E7ES89|Q86ST4|Q86V82 __UNKNOWN__ CCDS59115.1 . . . . . . . . . . A 9.478 1.097430 0.20552 2.27E-4 0.0 ENSG00000184428 ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041;ENST00000519591 T;T;T;T;T;T 0.51071 0.72;0.72;0.72;0.72;0.72;0.72 3.48 1.6 0.23607 DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2); 0.139465 0.32106 N 0.006564 T 0.28234 0.0697 N 0.11870 0.19 0.35480 D 0.79806 B 0.14805 0.011 B 0.31191 0.125 T 0.11991 -1.0565 10 0.41790 T 0.15 -5.1276 6.3269 0.21248 0.3278:0.0:0.6722:0.0 . 191 Q969P6 TOP1M_HUMAN T 191;93;93;93;93;93 ENSP00000328835:I191T;ENSP00000428369:I93T;ENSP00000429169:I93T;ENSP00000429181:I93T;ENSP00000427998:I93T;ENSP00000429177:I93T ENSP00000328835:I191T I - 2 0 TOP1MT 144478990 0.966000 0.33281 0.286000 0.24833 0.645000 0.38454 1.901000 0.39838 0.023000 0.15187 -0.180000 0.13094 ATT TOP1MT-005 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000381295.1 - ENST00000523676.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR ABCA8 10351 broad.mit.edu 37 17 66873753 66873753 + Missense_Mutation SNP G G A TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr17:66873753G>A ENST00000586539.1 - 33.0 4294 c.4106C>T c.(4105-4107)gCg>gTg p.A1369V ABCA8_ENST00000430352.2_Missense_Mutation_p.A1369V|ABCA8_ENST00000269080.2_Missense_Mutation_p.A1329V O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1329.0 ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}. transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626) p.A1329V(1) 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) 83.0 Breast(10;4.56e-13) GGGCCACAGCGCGTTCTCCTG 0.597 1 Substitution - Missense(1) large_intestine(1) 140.0 119.0 126.0 17 66873753.0 2203.0 4300.0 6503.0 SO:0001583 missense AB020629 CCDS11680.1, CCDS74138.1, CCDS74139.1 17q24 2012-03-14 ENSG00000141338 ENSG00000141338 10351.0 10351.0 """ATP binding cassette transporters / subfamily A""" 38.0 protein-coding gene gene with protein product 612505 Standard NM_007168 XM_005256938 Approved KIAA0822 uc002jhp.3 O94911 ENST00000586539.1:c.4106C>T 17.__UNKNOWN__:g.66873753G>A ENSP00000467271:p.Ala1369Val A1L3U3|C9JQE6|Q86WW0 __UNKNOWN__ . . . . . . . . . . G 9.177 1.022563 0.19433 . . ENSG00000141338 ENST00000269080;ENST00000430352 D;D 0.93763 -3.28;-3.28 4.34 -0.109 0.13584 ATPase, AAA+ type, core (1);ABC transporter-like (2); 0.455820 0.18056 N 0.153094 D 0.85004 0.5598 N 0.17723 0.515 0.25438 N 0.988124 B;B;B 0.14805 0.011;0.004;0.011 B;B;B 0.14023 0.01;0.004;0.006 T 0.73707 -0.3898 10 0.41790 T 0.15 . 8.385 0.32494 0.3401:0.0:0.6599:0.0 . 1369;1369;1329 A1L3U3;C9JQE6;O94911 .;.;ABCA8_HUMAN V 1329;1369 ENSP00000269080:A1329V;ENSP00000402814:A1369V ENSP00000269080:A1329V A - 2 0 ABCA8 64385348 0.064000 0.20934 0.007000 0.13788 0.521000 0.34408 1.858000 0.39408 -0.051000 0.13334 0.637000 0.83480 GCG ABCA8-003 NOVEL basic|appris_principal protein_coding protein_coding OTTHUMT00000450174.1 - ENST00000586539.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR NKAP 79576 broad.mit.edu 37 X 119059273 119059273 + Missense_Mutation SNP G G T TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chrX:119059273G>T ENST00000371410.3 - 9.0 1324 c.1158C>A c.(1156-1158)aaC>aaA p.N386K NKAP_ENST00000477789.1_5'UTR NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 386.0 Necessary for interaction with HDAC3 and transcriptional repression. granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20.0 TCTCTTCTTGGTTAAAGGATG 0.438 0 157.0 144.0 148.0 X 119059273.0 2203.0 4300.0 6503.0 SO:0001583 missense BC012770 CCDS14592.1 Xq24 2010-07-20 ENSG00000101882 ENSG00000101882 79576.0 79576.0 29873.0 protein-coding gene gene with protein product """NF kappaB activating protein""" 300766 14550261 Standard NM_024528 NM_024528 Approved FLJ22626 uc004esh.3 Q8N5F7 OTTHUMG00000022284 ENST00000371410.3:c.1158C>A X.__UNKNOWN__:g.119059273G>T ENSP00000360464:p.Asn386Lys Q6IPW6|Q96BQ2|Q9H638 __UNKNOWN__ CCDS14592.1 . . . . . . . . . . G 24.3 4.519570 0.85495 . . ENSG00000101882 ENST00000371410 T 0.16457 2.34 5.74 4.87 0.63330 . 0.000000 0.85682 D 0.000000 T 0.35364 0.0929 L 0.48986 1.54 0.80722 D 1 D 0.89917 1.0 D 0.81914 0.995 T 0.05750 -1.0866 10 0.66056 D 0.02 -24.778 13.2846 0.60235 0.078:0.0:0.922:0.0 . 386 Q8N5F7 NKAP_HUMAN K 386 ENSP00000360464:N386K ENSP00000360464:N386K N - 3 2 NKAP 118943301 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.905000 0.87416 1.177000 0.42855 0.600000 0.82982 AAC NKAP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058072.1 - ENST00000371410.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR MIR656 0 broad.mit.edu 37 14 101533126 101533126 + RNA SNP C C T TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr14:101533126C>T ENST00000385224.1 + 0.0 66 NR_030392.1 microRNA 656 CAACCTCTTTCCGATATCGAA 0.507 0 C 0,3136 0,0,1568 153.0 147.0 149.0 3.6 1.0 14 149.0 1,7163 0,1,3581 no intergenic 0,1,5149 TT,TC,CC 0.014,0.0,0.0097 101533126.0 1,10299 1568.0 3582.0 5150.0 14q32.31 2011-09-12 2008-12-18 ENSG00000207959 ENSG00000207959 724026.0 724026.0 """ncRNAs / Micro RNAs""" 32912.0 non-coding RNA RNA, micro MIRN656 Standard NR_030392 NR_030392 Approved hsa-mir-656 uc021sdv.1 ENST00000385224.1: 14.__UNKNOWN__:g.101533126C>T __UNKNOWN__ MIR656-201 KNOWN basic miRNA miRNA + ENST00000385224.1 RNA SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR TTN 7273 broad.mit.edu 37 2 179611367 179611367 + Missense_Mutation SNP T T A TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr2:179611367T>A ENST00000589042.1 - 48.0 11536 TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.M5254L|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) 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) 1448.0 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCATGACACATGTACTCTCCC 0.418 0 152.0 142.0 146.0 2 179611367.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273.0 7273.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403.0 protein-coding gene gene with protein product 188840 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_133378 NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.11312-4719A>T 2.__UNKNOWN__:g.179611367T>A A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 __UNKNOWN__ CCDS59435.1 . . . . . . . . . . T 12.40 1.925604 0.34002 . . ENSG00000155657 ENST00000360870;ENST00000306136 T 0.39406 1.08 5.95 4.78 0.61160 . . . . . T 0.28101 0.0693 N 0.19112 0.55 0.80722 D 1 B 0.24092 0.097 B 0.28784 0.094 T 0.06881 -1.0802 9 0.37606 T 0.19 . 8.3273 0.32165 0.1169:0.0:0.2686:0.6145 . 5254 Q8WZ42-6 . L 5254;535 ENSP00000354117:M5254L ENSP00000304714:M535L M - 1 0 TTN 179319612 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 1.875000 0.39578 1.041000 0.40125 0.533000 0.62120 ATG TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 - ENST00000589042.1 Intron SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR TRPM8 79054 broad.mit.edu 37 2 234891753 234891753 + Silent SNP C C T rs144605883 TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr2:234891753C>T ENST00000324695.4 + 20.0 2686 c.2646C>T c.(2644-2646)ggC>ggT p.G882G TRPM8_ENST00000433712.2_Silent_p.G460G NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 882.0 calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium channel activity (GO:0005262) breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66.0 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) TGGCCTTTGGCGTGGCCAGGC 0.592 0 C 1,4405 2.1+/-5.4 0,1,2202 229.0 197.0 208.0 2646 -11.6 0.0 2 dbSNP_134 208.0 0,8600 0,0,4300 no coding-synonymous TRPM8 NM_024080.4 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 882/1105 234891753.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AC005538 CCDS33407.1 2q37 2011-12-14 ENSG00000144481 ENSG00000144481 79054.0 79054.0 """Voltage-gated ion channels / Transient receptor potential cation channels""" 17961.0 protein-coding gene gene with protein product 606678 16382100 Standard NM_024080 NM_024080 Approved uc002vvh.3 Q7Z2W7 OTTHUMG00000059129 ENST00000324695.4:c.2646C>T 2.__UNKNOWN__:g.234891753C>T A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1 __UNKNOWN__ CCDS33407.1 TRPM8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000131005.4 + ENST00000324695.4 Silent SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR HRAS 3265 broad.mit.edu 37 11 534286 534286 + Missense_Mutation SNP C C G rs104894228 TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr11:534286C>G ENST00000451590.1 - 2.0 224 c.37G>C c.(37-39)Ggt>Cgt p.G13R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000417302.1_Missense_Mutation_p.G13R NM_001130442.1|NM_005343.2 NP_001123914.1|NP_005334.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 13.0 G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}. actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022) p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901.0 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) TTGCCCACACCGCCGGCGCCC 0.642 6.0 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) yes Dom yes Costello syndrome 11 11p15.5 3265.0 v-Ha-ras Harvey rat sarcoma viral oncogene homolog """E, L, M""" 88 Substitution - Missense(87)|Insertion - In frame(1) skin(26)|thyroid(17)|urinary_tract(13)|upper_aerodigestive_tract(11)|soft_tissue(8)|lung(5)|salivary_gland(3)|prostate(3)|adrenal_gland(1)|bone(1) GRCh37 CM060018 HRAS M rs104894228 85.0 80.0 82.0 11 534286.0 2202.0 4300.0 6502.0 SO:0001583 missense Familial Cancer Database incl.: Facio-Cutaneous-Skeletal syndrome AJ437024 CCDS7698.1, CCDS7699.1 11p15.5 2014-09-17 2013-07-08 ENSG00000174775 ENSG00000174775 3265.0 3265.0 5173.0 protein-coding gene gene with protein product 190020 """v-Ha-ras Harvey rat sarcoma viral oncogene homolog""" HRAS1 Standard NM_176795 NM_176795 Approved uc010qvx.2 P01112 OTTHUMG00000131919 ENST00000451590.1:c.37G>C 11.__UNKNOWN__:g.534286C>G ENSP00000407586:p.Gly13Arg B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2 __UNKNOWN__ CCDS7698.1 . . . . . . . . . . C 18.28 3.589995 0.66105 . . ENSG00000174775 ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189 T;T;T;T;T 0.73575 -0.76;-0.76;-0.76;-0.76;-0.76 3.0 3.0 0.34707 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.84257 0.5432 M 0.74647 2.275 0.80722 D 1 D;D 0.76494 0.999;0.997 D;D 0.73708 0.967;0.981 D 0.86952 0.2086 10 0.87932 D 0 . 14.1517 0.65389 0.0:1.0:0.0:0.0 . 13;13 P01112-2;P01112 .;RASH_HUMAN R 13 ENSP00000380722:G13R;ENSP00000380723:G13R;ENSP00000407586:G13R;ENSP00000388246:G13R;ENSP00000309845:G13R ENSP00000309845:G13R G - 1 0 HRAS 524286 1.000000 0.71417 0.446000 0.26920 0.236000 0.25371 7.472000 0.80996 1.986000 0.57962 0.561000 0.74099 GGT HRAS-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259403.2 - ENST00000451590.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR MSN 4478 broad.mit.edu 37 X 64951750 64951750 + Missense_Mutation SNP A A G TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chrX:64951750A>G ENST00000360270.5 + 6.0 774 c.602A>G c.(601-603)tAt>tGt p.Y201C NM_002444.2 NP_002435.1 P26038 MOES_HUMAN moesin 201.0 FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}. cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401) apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982) cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200) MSN/ALK(6) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 43.0 CTGGAGATGTATGGTGTGAAC 0.493 T ALK ALCL Dom yes X Xq11.2-q12 4478.0 moesin L 0 145.0 124.0 131.0 X 64951750.0 2203.0 4300.0 6503.0 SO:0001583 missense M69066 CCDS14382.1 Xq11.1 2010-10-20 ENSG00000147065 ENSG00000147065 4478.0 4478.0 7373.0 protein-coding gene gene with protein product 309845 1924289, 7628534 Standard NM_002444 XM_005262269 Approved uc004dwf.3 P26038 OTTHUMG00000021723 ENST00000360270.5:c.602A>G X.__UNKNOWN__:g.64951750A>G ENSP00000353408:p.Tyr201Cys __UNKNOWN__ CCDS14382.1 . . . . . . . . . . A 24.3 4.515952 0.85495 . . ENSG00000147065 ENST00000360270 D 0.85013 -1.93 5.92 5.92 0.95590 Band 4.1 domain (1);FERM central domain (1);FERM domain (1);Pleckstrin homology-type (1);FERM conserved site (1); 0.000000 0.85682 D 0.000000 D 0.95755 0.8619 H 0.99336 4.52 0.80722 D 1 D 0.89917 1.0 D 0.79784 0.993 D 0.97358 0.9968 10 0.87932 D 0 . 13.9916 0.64369 1.0:0.0:0.0:0.0 . 201 P26038 MOES_HUMAN C 201 ENSP00000353408:Y201C ENSP00000353408:Y201C Y + 2 0 MSN 64868475 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 9.237000 0.95368 1.990000 0.58119 0.486000 0.48141 TAT MSN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056981.1 + ENST00000360270.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR COL12A1 1303 broad.mit.edu 37 6 75841698 75841698 + Silent SNP G G A TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr6:75841698G>A ENST00000322507.8 - 35.0 6204 c.5895C>T c.(5893-5895)cgC>cgT p.R1965R COL12A1_ENST00000416123.2_Silent_p.R1965R|COL12A1_ENST00000345356.6_Silent_p.R801R|COL12A1_ENST00000483888.2_Silent_p.R1965R NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1965.0 Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}. cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501) collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982) extracellular matrix structural constituent conferring tensile strength (GO:0030020) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169.0 AATACACAACGCGATATTGCA 0.463 0 G , 0,4048 0,0,2024 134.0 131.0 132.0 5895,2403 -8.1 0.0 6 132.0 1,8367 0,1,4183 no coding-synonymous,coding-synonymous COL12A1 NM_004370.5,NM_080645.2 , 0,1,6207 AA,AG,GG 0.012,0.0,0.0081 , 1965/3064,801/1900 75841698.0 1,12415 2024.0 4184.0 6208.0 SO:0001819 synonymous_variant U73779 CCDS43481.1, CCDS43482.1 6q12-q13 2013-02-11 2003-07-24 ENSG00000111799 ENSG00000111799 1303.0 1303.0 """Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing""" 2188.0 protein-coding gene gene with protein product """collagen type XII proteoglycan""" 120320 """collagen, type XII, alpha 1-like""" COL12A1L 9143499 Standard NM_004370 XM_006715334 Approved uc003phs.3 Q99715 OTTHUMG00000015051 ENST00000322507.8:c.5895C>T 6.__UNKNOWN__:g.75841698G>A O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716 __UNKNOWN__ CCDS43482.1 COL12A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041249.3 - ENST00000322507.8 Silent SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR SLC39A8 64116 broad.mit.edu 37 4 103228643 103228643 + Missense_Mutation SNP G G C TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr4:103228643G>C ENST00000394833.2 - 3.0 978 c.502C>G c.(502-504)Ctg>Gtg p.L168V SLC39A8_ENST00000356736.4_Missense_Mutation_p.L168V|SLC39A8_ENST00000424970.2_Missense_Mutation_p.L168V|SLC39A8_ENST00000510255.1_5'UTR NM_001135148.1|NM_022154.5 NP_001128620.1|NP_071437.3 Q9C0K1 S39A8_HUMAN solute carrier family 39 (zinc transporter), member 8 168.0 transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829) integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886) metal ion transmembrane transporter activity (GO:0046873) large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9.0 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) CCAATAGCCAGCCCCACAAAA 0.363 0 121.0 137.0 132.0 4 103228643.0 2203.0 4299.0 6502.0 SO:0001583 missense CCDS3656.1, CCDS47117.1 4q22-q24 2013-05-22 ENSG00000138821 ENSG00000138821 64116.0 64116.0 """Solute carriers""" 20862.0 protein-coding gene gene with protein product 608732 """solute carrier family 39 (metal ion transporter), member 8""" 12504855, 12659941 Standard NM_022154 NM_001135146 Approved BIGM103 uc003hwc.2 Q9C0K1 OTTHUMG00000131120 ENST00000394833.2:c.502C>G 4.__UNKNOWN__:g.103228643G>C ENSP00000378310:p.Leu168Val B4E2H3|Q96SM9|Q9BVC0|Q9NSA4 __UNKNOWN__ CCDS3656.1 . . . . . . . . . . G 18.89 3.718928 0.68844 . . ENSG00000138821 ENST00000424970;ENST00000356736;ENST00000394833 T;T;T 0.53423 0.62;0.62;0.62 5.54 3.8 0.43715 . 0.000000 0.64402 D 0.000007 T 0.65302 0.2678 M 0.73962 2.25 0.58432 D 0.999998 D;D;D 0.89917 0.999;0.998;1.0 D;D;D 0.97110 0.989;0.992;1.0 T 0.68269 -0.5453 10 0.87932 D 0 -27.8292 9.8834 0.41247 0.23:0.0:0.77:0.0 . 168;168;101 B4E2H3;Q9C0K1;Q9C0K1-2 .;S39A8_HUMAN;. V 168 ENSP00000394548:L168V;ENSP00000349174:L168V;ENSP00000378310:L168V ENSP00000349174:L168V L - 1 2 SLC39A8 103447666 0.986000 0.35501 0.989000 0.46669 0.993000 0.82548 1.935000 0.40173 1.347000 0.45714 -0.140000 0.14226 CTG SLC39A8-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253798.1 - ENST00000394833.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR TRPM6 140803 broad.mit.edu 37 9 77354692 77354692 + Missense_Mutation SNP G G A TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr9:77354692G>A ENST00000360774.1 - 34.0 5671 c.5434C>T c.(5434-5436)Cgg>Tgg p.R1812W TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1816W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W NM_017662.4 NP_060132.3 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1812.0 Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}. calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674) 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) 126.0 TGCCATGTCCGCACAACCTCA 0.488 0 147.0 146.0 146.0 9 77354692.0 2203.0 4300.0 6503.0 SO:0001583 missense AK026281 CCDS6647.1, CCDS55318.1, CCDS55319.1 9q21.13 2011-12-14 2003-12-02 ENSG00000119121 ENSG00000119121 140803.0 140803.0 """Voltage-gated ion channels / Transient receptor potential cation channels""" 17995.0 protein-coding gene gene with protein product 607009 """hypomagnesemia, secondary hypocalcemia""" HOMG, HSH 10021370, 12032570, 16382100 Standard NM_017662 NM_017662 Approved CHAK2, FLJ22628 uc004ajk.1 Q9BX84 OTTHUMG00000020027 ENST00000360774.1:c.5434C>T 9.__UNKNOWN__:g.77354692G>A ENSP00000354006:p.Arg1812Trp Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2 __UNKNOWN__ CCDS6647.1 . . . . . . . . . . G 15.27 2.782492 0.49891 . . ENSG00000119121 ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864 T;T;T;T;T;T;T 0.07327 3.2;3.2;3.2;3.2;3.2;3.2;3.2 5.96 4.12 0.48240 MHCK/EF2 kinase (3);Protein kinase-like domain (1); 0.422510 0.29410 N 0.012235 T 0.17831 0.0428 L 0.27053 0.805 0.27804 N 0.942373 D;D;D;D;D;D 0.89917 1.0;1.0;1.0;0.996;0.995;0.995 D;D;D;P;B;B 0.74023 0.982;0.982;0.982;0.545;0.409;0.409 T 0.04191 -1.0970 10 0.72032 D 0.01 . 15.6115 0.76721 0.0:0.0:0.7486:0.2514 . 359;645;763;1812;1807;1807 Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2 .;.;.;TRPM6_HUMAN;.;. W 1812;1816;767;649;1807;1807;358;1816 ENSP00000354006:R1812W;ENSP00000407341:R1816W;ENSP00000366068:R767W;ENSP00000366067:R649W;ENSP00000396672:R1807W;ENSP00000354962:R1807W;ENSP00000366060:R1816W ENSP00000354006:R1812W R - 1 2 TRPM6 76544512 0.749000 0.28305 0.927000 0.36925 0.165000 0.22458 2.006000 0.40874 0.845000 0.35118 -0.953000 0.02652 CGG TRPM6-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000052693.1 - ENST00000360774.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR CTSZ 1522 bcgsc.ca 37 20 57570729 57570729 + Missense_Mutation SNP C C A TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr20:57570729C>A ENST00000217131.5 - 6.0 1005 c.887G>T c.(886-888)tGt>tTt p.C296F NM_001336.3 NP_001327.2 Q9UBR2 CATZ_HUMAN cathepsin Z 296.0 angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|proteolysis (GO:0006508) endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886) cysteine-type peptidase activity (GO:0008234) cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4) 10.0 all_lung(29;0.00711) Colorectal(105;0.109) CCCAAATGTACAGTGCTCCTC 0.532 0 203.0 150.0 168.0 20 57570729.0 2203.0 4300.0 6503.0 SO:0001583 missense AF032906 CCDS13474.1 20q13.32 2012-02-10 ENSG00000101160 ENSG00000101160 1522.0 1522.0 """Cathepsins""" 2547.0 protein-coding gene gene with protein product """cathepsin X"", ""carboxypeptidase LB"", ""cathepsin IV"", ""cathepsin B2"", ""cathepsin Y"", ""cathepsin Z1"", ""cysteine-type carboxypeptidase"", ""lysosomal carboxypeptidase B""" 603169 9642240 Standard NM_001336 NM_001336 Approved CTSX uc002yai.2 Q9UBR2 OTTHUMG00000032858 ENST00000217131.5:c.887G>T 20.__UNKNOWN__:g.57570729C>A ENSP00000217131:p.Cys296Phe B2RC40|O75331|Q9UQV5|Q9UQV6 __UNKNOWN__ CCDS13474.1 . . . . . . . . . . C 21.9 4.218378 0.79464 . . ENSG00000101160 ENST00000217131 T 0.74209 -0.82 5.57 5.57 0.84162 . 0.000000 0.85682 D 0.000000 D 0.90933 0.7150 H 0.95043 3.615 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.93189 0.6581 10 0.87932 D 0 . 19.5388 0.95266 0.0:1.0:0.0:0.0 . 296 Q9UBR2 CATZ_HUMAN F 296 ENSP00000217131:C296F ENSP00000217131:C296F C - 2 0 CTSZ 57004124 1.000000 0.71417 0.071000 0.20095 0.026000 0.11368 7.818000 0.86416 2.621000 0.88768 0.650000 0.86243 TGT CTSZ-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079899.1 - ENST00000217131.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR HKR1 284459 bcgsc.ca 37 19 37853289 37853289 + Missense_Mutation SNP A A T TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr19:37853289A>T ENST00000591134.1 + 4.0 360 HKR1_ENST00000589392.1_Missense_Mutation_p.S180C|HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000392153.3_Missense_Mutation_p.S179C|HKR1_ENST00000324411.4_Missense_Mutation_p.S198C|HKR1_ENST00000541583.2_Missense_Mutation_p.S137C|HKR1_ENST00000544914.1_5'UTR P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29.0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGCACTTTCCAGCCCACCTGA 0.493 0 61.0 59.0 60.0 19 37853289.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant M20675 CCDS12502.1 19q13.13 2013-01-08 2010-05-04 ENSG00000181666 284459.0 284459.0 """Zinc fingers, C2H2-type"", ""-""" 4928.0 protein-coding gene gene with protein product """oncogene HKR1""" 165250 """GLI-Kruppel family member HKR1""" 2850480, 9813242 Standard NM_181786 NM_181786 Approved ZNF875 uc002ogb.3 P10072 ENST00000591134.1:c.131-6792A>T 19.__UNKNOWN__:g.37853289A>T A8MRS7|Q6PJD0|Q9BSW9|Q9UM09 __UNKNOWN__ . . . . . . . . . . A 15.00 2.702925 0.48412 . . ENSG00000181666 ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583 T;T;T 0.07567 3.33;3.29;3.18 2.71 2.71 0.32032 . . . . . T 0.14399 0.0348 L 0.27053 0.805 0.80722 D 1 P;D;P;P 0.76494 0.889;0.999;0.934;0.889 B;D;B;B 0.76071 0.339;0.987;0.339;0.339 T 0.03840 -1.0999 9 0.48119 T 0.1 0.0565 9.2806 0.37727 1.0:0.0:0.0:0.0 . 137;179;198;180 Q7Z6E1;P10072-2;P10072;B4DSY3 .;.;HKR1_HUMAN;. C 137;179;234;198;137 ENSP00000375994:S179C;ENSP00000315505:S198C;ENSP00000438261:S137C ENSP00000315505:S198C S + 1 0 HKR1 42545129 0.001000 0.12720 0.007000 0.13788 0.017000 0.09413 0.796000 0.26986 1.487000 0.48415 0.529000 0.55759 AGC HKR1-026 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000458381.2 + ENST00000591134.1 Intron SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR Unknown 390438 bcgsc.ca 37 14 20647773 20647773 + RNA SNP G G A TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr14:20647773G>A RNA5SP381 (33459 upstream) : OR11G2 (17721 downstream) GCCATCTGCCGGCCTCTACGC 0.478 0 SO:0001628 intergenic_variant 14.__UNKNOWN__:g.20647773G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR Unknown 0 bcgsc.ca 37 3 46185057 46185057 + RNA SNP C C T TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr3:46185057C>T XCR1 (115823 upstream) : CCR3 (20038 downstream) TTCTTTCTTACGCTCCATGTG 0.418 0 SO:0001628 intergenic_variant 3.__UNKNOWN__:g.46185057C>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR ITGA4 3676 ucsc.edu 37 2 182388973 182388973 + Missense_Mutation SNP A A T TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr2:182388973A>T ENST00000397033.2 + 20.0 2675 c.2245A>T c.(2245-2247)Acc>Tcc p.T749S NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 749.0 B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678) cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886) cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872) 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) 58.0 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108)|Tinzaparin(DB06822) AGTGCATGCTACCTGGTATAA 0.413 0 60.0 55.0 57.0 2 182388973.0 1828.0 4071.0 5899.0 SO:0001583 missense CCDS42788.1 2q31-q32 2010-03-23 ENSG00000115232 ENSG00000115232 3676.0 3676.0 """CD molecules"", ""Integrins""" 6140.0 protein-coding gene gene with protein product 192975 CD49D 1537388 Standard NM_000885 Approved CD49d uc002unu.3 P13612 OTTHUMG00000154212 ENST00000397033.2:c.2245A>T 2.__UNKNOWN__:g.182388973A>T ENSP00000380227:p.Thr749Ser D3DPG4|Q7Z4L6 __UNKNOWN__ CCDS42788.1 . . . . . . . . . . A 4.933 0.173415 0.09391 . . ENSG00000115232 ENST00000397033 T 0.47528 0.84 6.08 -9.45 0.00600 Integrin alpha-2 (1); 0.695157 0.15867 N 0.240726 T 0.18509 0.0444 N 0.12182 0.205 0.09310 N 0.999997 B;B 0.06786 0.001;0.001 B;B 0.10450 0.003;0.005 T 0.07654 -1.0761 10 0.23891 T 0.37 . 6.6052 0.22721 0.5333:0.0:0.2087:0.258 . 571;749 Q59H74;P13612 .;ITA4_HUMAN S 749 ENSP00000380227:T749S ENSP00000380227:T749S T + 1 0 ITGA4 182097218 0.575000 0.26692 0.013000 0.15412 0.323000 0.28346 0.450000 0.21762 -1.893000 0.01106 -0.333000 0.08304 ACC ITGA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000334427.1 + ENST00000397033.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MQ-Normal-SM-5EMLR SLIT1 6585 broad.mit.edu 37 10 98778790 98778790 + Missense_Mutation SNP G G C TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr10:98778790G>C ENST00000266058.4 - 27.0 3066 c.2821C>G c.(2821-2823)Cac>Gac p.H941D ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.H941D NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 941.0 EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}. axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028) extracellular space (GO:0005615) calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495) 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) 78.0 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GGGTCGTTGTGGCAGGTGCCC 0.637 0 48.0 44.0 46.0 10 98778790.0 2203.0 4300.0 6503.0 SO:0001583 missense AB011537 CCDS7453.1 10q23.3-q24 2008-08-01 2001-11-28 ENSG00000187122 ENSG00000187122 6585.0 6585.0 11085.0 protein-coding gene gene with protein product 603742 """slit (Drosophila) homolog 1""" SLIL1 9693030, 9813312 Standard NM_003061 NM_003061 Approved slit1, MEGF4, Slit-1, SLIT3 uc001kmw.2 O75093 OTTHUMG00000018843 ENST00000266058.4:c.2821C>G 10.__UNKNOWN__:g.98778790G>C ENSP00000266058:p.His941Asp Q5T0V1|Q8WWZ2|Q9UIL7 __UNKNOWN__ CCDS7453.1 . . . . . . . . . . G 10.42 1.345444 0.24426 . . ENSG00000187122 ENST00000266058;ENST00000371070 D;D 0.92299 -3.01;-3.01 5.54 4.64 0.57946 EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1); 0.290403 0.38959 N 0.001506 D 0.84920 0.5579 N 0.20483 0.58 0.80722 D 1 B 0.24317 0.101 B 0.25506 0.061 T 0.79470 -0.1790 10 0.16896 T 0.51 . 13.7739 0.63041 0.0747:0.0:0.9253:0.0 . 941 O75093 SLIT1_HUMAN D 941 ENSP00000266058:H941D;ENSP00000360109:H941D ENSP00000266058:H941D H - 1 0 SLIT1 98768780 1.000000 0.71417 0.874000 0.34290 0.914000 0.54420 5.321000 0.65846 1.341000 0.45600 0.462000 0.41574 CAC SLIT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049636.1 - ENST00000266058.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MR-Normal-SM-5EMME ZC2HC1A 51101 broad.mit.edu 37 8 79629684 79629684 + Missense_Mutation SNP G G A TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr8:79629684G>A ENST00000263849.4 + 9.0 1036 c.934G>A c.(934-936)Gcc>Acc p.A312T NM_016010.2 NP_057094.2 Q96GY0 ZC21A_HUMAN zinc finger, C2HC-type containing 1A 312.0 metal ion binding (GO:0046872) TGTAGAATGGGCCAAATTTTG 0.358 0 149.0 151.0 150.0 8 79629684.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS6223.1 8q21.11 2013-01-10 2012-02-03 2012-02-03 ENSG00000104427 ENSG00000104427 51101.0 51101.0 """Zinc fingers, C2HC-type containing""" 24277.0 protein-coding gene gene with protein product """chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A""" C8orf70, FAM164A 10810093 Standard NM_016010 NM_016010 Approved CGI-62 uc003ybd.3 Q96GY0 OTTHUMG00000164619 ENST00000263849.4:c.934G>A 8.__UNKNOWN__:g.79629684G>A ENSP00000263849:p.Ala312Thr Q9Y372 __UNKNOWN__ CCDS6223.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 26.6|26.6 4.750688|4.750688 0.89753|0.89753 .|. .|. ENSG00000104427|ENSG00000104427 ENST00000263849|ENST00000519307 T|. 0.58652|. 0.32|. 5.14|5.14 5.14|5.14 0.70334|0.70334 .|. 0.047976|. 0.85682|. D|. 0.000000|. T|T 0.75925|0.75925 0.3916|0.3916 M|M 0.72353|0.72353 2.195|2.195 0.80722|0.80722 D|D 1|1 D|. 0.89917|. 1.0|. D|. 0.85130|. 0.997|. T|T 0.75230|0.75230 -0.3391|-0.3391 9|5 .|. .|. .|. -18.263|-18.263 18.9518|18.9518 0.92643|0.92643 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 312|. Q96GY0|. F164A_HUMAN|. T|D 312|183 ENSP00000263849:A312T|. .|. A|G +|+ 1|2 0|0 FAM164A|FAM164A 79792239|79792239 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.965000|0.965000 0.64279|0.64279 7.373000|7.373000 0.79623|0.79623 2.548000|2.548000 0.85928|0.85928 0.591000|0.591000 0.81541|0.81541 GCC|GGC ZC2HC1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000379423.2 + ENST00000263849.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MR-Normal-SM-5EMME GPS1 2873 broad.mit.edu 37 17 80011174 80011174 + Missense_Mutation SNP G G A TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr17:80011174G>A ENST00000306823.6 + 2.0 81 c.58G>A c.(58-60)Gac>Aac p.D20N GPS1_ENST00000355130.2_Missense_Mutation_p.D60N|GPS1_ENST00000392358.2_Missense_Mutation_p.D60N|GPS1_ENST00000578552.1_Missense_Mutation_p.D20N|GPS1_ENST00000320548.4_Missense_Mutation_p.D4N Q13098 CSN1_HUMAN G protein pathway suppressor 1 20.0 cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254) COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634) GTPase inhibitor activity (GO:0005095) breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13.0 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) CATGCAGATCGACGTGGACCC 0.662 0 75.0 68.0 70.0 17 80011174.0 2200.0 4300.0 6500.0 SO:0001583 missense CCDS11800.1, CCDS32774.1 17q25.3 2013-03-14 ENSG00000169727 2873.0 2873.0 4549.0 protein-coding gene gene with protein product """COP9 signalosome subunit 1""" 601934 9535219 Standard NM_212492 NM_212492 Approved COPS1, CSN1 uc002kdl.1 Q13098 ENST00000306823.6:c.58G>A 17.__UNKNOWN__:g.80011174G>A ENSP00000302873:p.Asp20Asn Q8NA10|Q9BWL1 __UNKNOWN__ CCDS32774.1 . . . . . . . . . . G 16.73 3.203956 0.58234 . . ENSG00000169727 ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130 . . . 3.82 3.82 0.43975 . 0.000000 0.85682 D 0.000000 T 0.67655 0.2916 L 0.49455 1.56 0.80722 D 1 D;D;P;P;D 0.76494 0.986;0.998;0.8;0.925;0.999 P;P;B;B;P 0.62382 0.629;0.799;0.17;0.415;0.901 T 0.69457 -0.5140 9 0.44086 T 0.13 -23.0599 16.2282 0.82315 0.0:0.0:1.0:0.0 . 12;60;20;20;60 B4DND6;A8K070;Q13098-5;Q13098;Q13098-7 .;.;.;CSN1_HUMAN;. N 60;88;20;60 . ENSP00000302873:D20N D + 1 0 GPS1 77604463 1.000000 0.71417 0.919000 0.36401 0.872000 0.50106 8.619000 0.90938 2.085000 0.62840 0.563000 0.77884 GAC GPS1-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000442176.1 + ENST00000306823.6 Missense_Mutation SNP PCPG-TCGA-SR-A6MR-Normal-SM-5EMME RPL27A 6157 broad.mit.edu 37 11 8705560 8705560 + Missense_Mutation SNP C C A TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr11:8705560C>A ENST00000314138.6 + 3.0 478 c.75C>A c.(73-75)caC>caA p.H25Q RPL27A_ENST00000530022.1_5'UTR|RPL27A_ENST00000524496.1_5'UTR|RPL27A_ENST00000531978.1_Missense_Mutation_p.H25Q|RPL27A_ENST00000532359.1_Missense_Mutation_p.H25Q|RPL27A_ENST00000526562.1_5'UTR NM_000990.4 NP_000981.1 P46776 RL27A_HUMAN ribosomal protein L27a 25.0 cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) haematopoietic_and_lymphoid_tissue(1)|lung(1) 2.0 Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CAGGCAAGCACCGGAAGCACC 0.552 0 81.0 82.0 82.0 11 8705560.0 2201.0 4296.0 6497.0 SO:0001583 missense U14968 CCDS7790.1 11p15 2011-04-06 ENSG00000166441 6157.0 6157.0 """L ribosomal proteins""" 10329.0 protein-coding gene gene with protein product 603637 7772601, 9582194 Standard NM_000990 NM_000990 Approved L27A uc001mgs.4 P46776 ENST00000314138.6:c.75C>A 11.__UNKNOWN__:g.8705560C>A ENSP00000346015:p.His25Gln B2R4B3 __UNKNOWN__ CCDS7790.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 20.4|20.4 3.978584|3.978584 0.74360|0.74360 .|. .|. ENSG00000166441|ENSG00000166441 ENST00000314138;ENST00000531978;ENST00000532359|ENST00000525981 .|. .|. .|. 5.6|5.6 4.69|4.69 0.59074|0.59074 Ribosomal protein L18e/L15P (2);|. 0.000000|. 0.85682|. U|. 0.000000|. D|D 0.87124|0.87124 0.6099|0.6099 H|H 0.96489|0.96489 3.83|3.83 0.80722|0.80722 D|D 1|1 P|. 0.46512|. 0.879|. P|. 0.54889|. 0.763|. D|D 0.91213|0.91213 0.5000|0.5000 9|5 0.87932|. D|. 0|. -1.1861|-1.1861 14.6508|14.6508 0.68794|0.68794 0.0:0.9292:0.0:0.0708|0.0:0.9292:0.0:0.0708 .|. 25|. P46776|. RL27A_HUMAN|. Q|N 25|20 .|. ENSP00000346015:H25Q|. H|T +|+ 3|2 2|0 RPL27A|RPL27A 8662136|8662136 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.947000|0.947000 0.59692|0.59692 5.553000|5.553000 0.67287|0.67287 1.498000|1.498000 0.48600|0.48600 -0.157000|-0.157000 0.13467|0.13467 CAC|ACC RPL27A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000386506.1 + ENST00000314138.6 Missense_Mutation SNP PCPG-TCGA-SR-A6MR-Normal-SM-5EMME H2AFX 3014 broad.mit.edu 37 11 118965944 118965944 + Missense_Mutation SNP G G A TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr11:118965944G>A ENST00000530167.1 - 1.0 233 c.161C>T c.(160-162)gCa>gTa p.A54V NM_002105.2 NP_002096.1 P16104 H2AX_HUMAN H2A histone family, member X 54.0 cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|nucleosome assembly (GO:0006334)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|spermatogenesis (GO:0007283) condensed nuclear chromosome (GO:0000794)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)|XY body (GO:0001741) damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393) lung(3) 3.0 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) CTCCAGCACTGCCGCCAGGTA 0.701 Chromatin Structure OREG0021395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 35.0 37.0 36.0 11 118965944.0 2200.0 4292.0 6492.0 SO:0001583 missense X14850 CCDS8410.1 11q23.3 2011-01-27 3014.0 3014.0 """Histones / Replication-independent""" 4739.0 protein-coding gene gene with protein product 601772 H2AX 8076949 Standard NM_002105 NM_002105 Approved uc001pvg.3 P16104 ENST00000530167.1:c.161C>T 11.__UNKNOWN__:g.118965944G>A ENSP00000434024:p.Ala54Val 1492.0 Q4ZGJ7|Q6IAS5 __UNKNOWN__ CCDS8410.1 . . . . . . . . . . G 37 6.137873 0.97315 . . ENSG00000188486 ENST00000530167;ENST00000375167 T;T 0.71103 -0.54;-0.54 5.92 5.92 0.95590 Histone-fold (2);Histone core (1);Histone H2A (2); 0.000000 0.64402 D 0.000010 D 0.89856 0.6836 H 0.99090 4.425 0.80722 D 1 D 0.89917 1.0 P 0.56514 0.8 D 0.93592 0.6922 10 0.72032 D 0.01 . 19.2987 0.94134 0.0:0.0:1.0:0.0 . 54 P16104 H2AX_HUMAN V 54 ENSP00000434024:A54V;ENSP00000364310:A54V ENSP00000364310:A54V A - 2 0 H2AFX 118471154 1.000000 0.71417 1.000000 0.80357 0.822000 0.46500 9.576000 0.98192 2.809000 0.96659 0.655000 0.94253 GCA H2AFX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000388330.2 - ENST00000530167.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MR-Normal-SM-5EMME TTN 7273 broad.mit.edu 37 2 179594164 179594164 + Missense_Mutation SNP C C A TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr2:179594164C>A ENST00000589042.1 - 64.0 18943 c.18719G>T c.(18718-18720)cGa>cTa p.R6240L TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R4996L|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R5923L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5923.0 Ig-like 43. adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) 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) 1448.0 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGCTGCTTCGAATTTCCCT 0.448 0 136.0 129.0 131.0 2 179594164.0 1931.0 4129.0 6060.0 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273.0 7273.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403.0 protein-coding gene gene with protein product 188840 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_133378 NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.18719G>T 2.__UNKNOWN__:g.179594164C>A ENSP00000467141:p.Arg6240Leu A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 __UNKNOWN__ CCDS59435.1 . . . . . . . . . . C 12.79 2.042508 0.35989 . . ENSG00000155657 ENST00000342992 T 0.68331 -0.32 5.92 5.92 0.95590 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.62208 0.2409 L 0.46741 1.465 0.80722 D 1 P 0.44521 0.837 B 0.39660 0.306 T 0.67681 -0.5608 9 0.87932 D 0 . 15.9467 0.79799 0.143:0.857:0.0:0.0 . 5923 Q8WZ42 TITIN_HUMAN L 4996 ENSP00000343764:R4996L ENSP00000343764:R4996L R - 2 0 TTN 179302409 1.000000 0.71417 0.984000 0.44739 0.826000 0.46750 3.321000 0.51999 2.795000 0.96236 0.655000 0.94253 CGA TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 - ENST00000589042.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MR-Normal-SM-5EMME POLR3A 11128 broad.mit.edu 37 10 79769406 79769406 + Missense_Mutation SNP T T C TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr10:79769406T>C ENST00000372371.3 - 14.0 1935 c.1798A>G c.(1798-1800)Atc>Gtc p.I600V NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 600.0 defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351) cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270) breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59.0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) ACACTGAAGATCTGCTTTCCC 0.582 0 170.0 131.0 144.0 10 79769406.0 2203.0 4300.0 6503.0 SO:0001583 missense AF021351 CCDS7354.1 10q22-q23 2013-01-21 ENSG00000148606 ENSG00000148606 11128.0 11128.0 """RNA polymerase subunits""" 30074.0 protein-coding gene gene with protein product 614258 9331371, 12391170 Standard NM_007055 NM_007055 Approved RPC1, RPC155, hRPC155 uc001jzn.3 O14802 OTTHUMG00000018550 ENST00000372371.3:c.1798A>G 10.__UNKNOWN__:g.79769406T>C ENSP00000361446:p.Ile600Val Q8IW34|Q8TCW5 __UNKNOWN__ CCDS7354.1 . . . . . . . . . . T 6.078 0.382712 0.11524 . . ENSG00000148606 ENST00000372371;ENST00000540842 T 0.68479 -0.33 5.72 4.6 0.57074 RNA polymerase Rpb1, domain 3 (1); 0.106949 0.64402 D 0.000004 T 0.43010 0.1228 N 0.17474 0.49 0.49389 D 0.999789 B 0.11235 0.004 B 0.18561 0.022 T 0.36529 -0.9744 9 . . . -20.987 3.3043 0.06994 0.0:0.3343:0.0:0.6656 . 600 O14802 RPC1_HUMAN V 600 ENSP00000361446:I600V . I - 1 0 POLR3A 79439412 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 2.181000 0.42547 2.184000 0.69523 0.533000 0.62120 ATC POLR3A-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048923.1 - ENST00000372371.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MR-Normal-SM-5EMME TNKS 8658 broad.mit.edu 37 8 9609296 9609296 + Missense_Mutation SNP G G A TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr8:9609296G>A ENST00000518281.1 + 19.0 2730 c.2299G>A c.(2299-2301)Gta>Ata p.V767I TNKS_ENST00000310430.6_Missense_Mutation_p.V1004I O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 1004.0 mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055) chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242) NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270) NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49.0 COAD - Colon adenocarcinoma(149;0.0467) AGAGTTGGCCGTAGGAGGAGC 0.542 0 G ILE/VAL 0,4406 0,0,2203 78.0 82.0 81.0 3010 5.7 0.9 8 81.0 1,8599 1.2+/-3.3 0,1,4299 no missense TNKS NM_003747.2 29 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 benign 1004/1328 9609296.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AF082556 CCDS5974.1 8p23.1 2013-01-10 ENSG00000173273 ENSG00000173273 8658.0 8658.0 """Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing""" 11941.0 protein-coding gene gene with protein product 603303 9822378, 10198177 Standard NM_003747 XM_006716263 Approved TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5 uc003wss.3 O95271 OTTHUMG00000090481 ENST00000518281.1:c.2299G>A 8.__UNKNOWN__:g.9609296G>A ENSP00000429890:p.Val767Ile O95272|Q4G0F2 __UNKNOWN__ . . . . . . . . . . G 9.102 1.004279 0.19199 0.0 1.16E-4 ENSG00000173273 ENST00000310430;ENST00000518281 T;T 0.61859 0.07;0.14 5.73 5.73 0.89815 . 0.331114 0.32055 N 0.006645 T 0.45034 0.1322 N 0.19112 0.55 0.54753 D 0.999982 B 0.16396 0.017 B 0.09377 0.004 T 0.29941 -0.9995 10 0.18276 T 0.48 . 19.9054 0.97006 0.0:0.0:1.0:0.0 . 1004 O95271 TNKS1_HUMAN I 1004;767 ENSP00000311579:V1004I;ENSP00000429890:V767I ENSP00000311579:V1004I V + 1 0 TNKS 9646706 1.000000 0.71417 0.901000 0.35422 0.191000 0.23601 6.449000 0.73473 2.698000 0.92095 0.655000 0.94253 GTA TNKS-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000375036.1 + ENST00000518281.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MR-Normal-SM-5EMME ST6GAL1 6480 broad.mit.edu 37 3 186793532 186793532 + Nonsense_Mutation SNP G G T TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr3:186793532G>T ENST00000169298.3 + 8.0 1836 c.1162G>T c.(1162-1164)Gag>Tag p.E388* ST6GAL1_ENST00000448044.1_Nonsense_Mutation_p.E388*|ST6GAL1_ENST00000457772.2_Nonsense_Mutation_p.E157* NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 388.0 cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173) beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7.0 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) GGGCACAGATGAGGACATCTA 0.507 0 89.0 88.0 88.0 3 186793532.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained X62822 CCDS3285.1, CCDS46973.1 3q27-q28 2013-02-26 2003-01-14 2005-02-07 ENSG00000073849 ENSG00000073849 6480.0 6480.0 2.4.99.1 10860.0 protein-coding gene gene with protein product """ST6Gal I""" 109675 """sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)""" SIAT1 2408023 Standard NM_173216 NM_003032 Approved uc003frd.3 P15907 OTTHUMG00000156500 ENST00000169298.3:c.1162G>T 3.__UNKNOWN__:g.186793532G>T ENSP00000169298:p.Glu388* A8KA14|B2R513|D3DNV3 __UNKNOWN__ CCDS3285.1 . . . . . . . . . . G 42 9.386880 0.99156 . . ENSG00000073849 ENST00000169298;ENST00000457772;ENST00000448044 . . . 5.74 5.74 0.90152 . 0.196194 0.52532 D 0.000079 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.07325 T 0.83 -34.2584 11.1285 0.48333 0.0836:0.0:0.9164:0.0 . . . . X 388;157;388 . ENSP00000169298:E388X E + 1 0 ST6GAL1 188276226 0.999000 0.42202 0.997000 0.53966 0.991000 0.79684 3.310000 0.51911 2.884000 0.98904 0.655000 0.94253 GAG ST6GAL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000344399.1 + ENST00000169298.3 Nonsense_Mutation SNP PCPG-TCGA-SR-A6MR-Normal-SM-5EMME SPG11 80208 broad.mit.edu 37 15 44955823 44955823 + Missense_Mutation SNP G G C TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr15:44955823G>C ENST00000261866.7 - 1.0 39 c.23C>G c.(22-24)gCg>gGg p.A8G SPG11_ENST00000535302.2_Missense_Mutation_p.A8G|SPG11_ENST00000559193.1_Missense_Mutation_p.A8G|SPG11_ENST00000558319.1_Missense_Mutation_p.A8G|SPG11_ENST00000427534.2_Missense_Mutation_p.A8G NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 8.0 cell death (GO:0008219) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886) 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) 72.0 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) AGCAGCACTCGCGACCCCTTC 0.687 G 3.0 0.0014 0.0041 2184.0 0.0017 0.9964 , , 0.0005 0.0025 0.4707 EXOME 0.0005 SNP 0 7.0 9.0 8.0 15 44955823.0 2101.0 4178.0 6279.0 SO:0001583 missense CCDS10112.1, CCDS53939.1 15q13-q15 2007-11-13 ENSG00000104133 ENSG00000104133 80208.0 80208.0 11226.0 protein-coding gene gene with protein product """spatacsin""" 610844 """KIAA1840""" KIAA1840 10408536, 17322883 Standard NM_001160227 Approved FLJ21439 uc001ztx.3 Q96JI7 OTTHUMG00000131199 ENST00000261866.7:c.23C>G 15.__UNKNOWN__:g.44955823G>C ENSP00000261866:p.Ala8Gly A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734 __UNKNOWN__ CCDS10112.1 3 0.0013736263736263737 2 0.0040650406504065045 0 0.0 1 0.0017482517482517483 0 0.0 G 3.883 -0.025632 0.07589 . . ENSG00000104133 ENST00000261866;ENST00000535302;ENST00000427534 T;T;T 0.75367 -0.93;-0.66;-0.68 5.53 1.56 0.23342 . 0.934142 0.08960 N 0.868891 T 0.37972 0.1023 N 0.00583 -1.355 0.09310 N 1 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.24476 -1.0159 10 0.02654 T 1 . 10.4812 0.44695 0.1412:0.4428:0.416:0.0 . 8;8;8;8 C4B7M2;F5H3N6;B9EK60;Q96JI7 .;.;.;SPTCS_HUMAN G 8 ENSP00000261866:A8G;ENSP00000445278:A8G;ENSP00000396110:A8G ENSP00000261866:A8G A - 2 0 SPG11 42743115 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 0.012000 0.13287 0.046000 0.15833 -2.042000 0.00416 GCG SPG11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000253927.1 - ENST00000261866.7 Missense_Mutation SNP PCPG-TCGA-SR-A6MR-Normal-SM-5EMME DMWD 1762 broad.mit.edu 37 19 46290019 46290019 + Missense_Mutation SNP G G C TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr19:46290019G>C ENST00000377735.3 - 3.0 780 c.735C>G c.(733-735)caC>caG p.H245Q DMWD_ENST00000270223.6_Missense_Mutation_p.H245Q Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 245.0 central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16.0 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) AGGCGCAGGGGTGGCTGACGT 0.627 0 42.0 40.0 41.0 19 46290019.0 2203.0 4300.0 6503.0 SO:0001583 missense L19267 CCDS33054.1 19q13.32 2013-01-09 2007-02-20 ENSG00000185800 ENSG00000185800 1762.0 1762.0 """WD repeat domain containing""" 2936.0 protein-coding gene gene with protein product 609857 """dystrophia myotonica-containing WD repeat motif""" 1302022 Standard NM_004943 NM_004943 Approved DMR-N9, gene59, D19S593E uc021uwc.1 Q09019 OTTHUMG00000169044 ENST00000377735.3:c.735C>G 19.__UNKNOWN__:g.46290019G>C ENSP00000366964:p.His245Gln __UNKNOWN__ . . . . . . . . . . G 3.485 -0.105138 0.06967 . . ENSG00000185800 ENST00000377735;ENST00000270223 T;T 0.27256 1.68;1.68 4.21 3.17 0.36434 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1); 0.000000 0.85682 D 0.000000 T 0.22704 0.0548 L 0.57536 1.79 0.34664 D 0.722965 P;P 0.42518 0.782;0.675 B;B 0.42882 0.401;0.226 T 0.21518 -1.0243 10 0.12430 T 0.62 -33.6381 6.6265 0.22833 0.2136:0.0:0.7864:0.0 . 245;245 G5E9A7;Q09019 .;DMWD_HUMAN Q 245 ENSP00000366964:H245Q;ENSP00000270223:H245Q ENSP00000270223:H245Q H - 3 2 DMWD 50981859 1.000000 0.71417 0.991000 0.47740 0.147000 0.21601 2.226000 0.42963 1.156000 0.42514 0.514000 0.50259 CAC DMWD-001 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000402062.1 - ENST00000377735.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MR-Normal-SM-5EMME Unknown 0 bcgsc.ca 37 7 138126119 138126119 + RNA SNP C C T TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr7:138126119C>T Y_RNA (25800 upstream) : TRIM24 (18959 downstream) ATCGCCCACACCAACATGAAG 0.537 0 SO:0001628 intergenic_variant 7.__UNKNOWN__:g.138126119C>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-SR-A6MR-Normal-SM-5EMME HHLA2 11148 bcgsc.ca 37 3 108074066 108074066 + Missense_Mutation SNP G G C TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr3:108074066G>C ENST00000357759.5 + 5.0 937 c.523G>C c.(523-525)Gac>Cac p.D175H HHLA2_ENST00000491820.1_Missense_Mutation_p.D175H|HHLA2_ENST00000489514.2_Missense_Mutation_p.D175H|HHLA2_ENST00000467562.1_Missense_Mutation_p.D111H|HHLA2_ENST00000467761.1_Missense_Mutation_p.D175H NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 175.0 Ig-like C1-type. positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295) integral component of membrane (GO:0016021) endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18.0 GTGGAAAATGGACAACACACC 0.378 0 116.0 106.0 109.0 3 108074066.0 1872.0 4104.0 5976.0 SO:0001583 missense AF126162 CCDS46883.1, CCDS63713.1, CCDS74975.1 3q13.13 2013-01-11 ENSG00000114455 ENSG00000114455 11148.0 11148.0 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing""" 4905.0 protein-coding gene gene with protein product 604371 10444326 Standard NM_007072 NM_007072 Approved B7H7 uc003dwz.3 Q9UM44 OTTHUMG00000159224 ENST00000357759.5:c.523G>C 3.__UNKNOWN__:g.108074066G>C ENSP00000350402:p.Asp175His B4DKN2|D3DN60|Q9NWQ6 __UNKNOWN__ CCDS46883.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 16.08|16.08 3.021428|3.021428 0.54576|0.54576 .|. .|. ENSG00000114455|ENSG00000114455 ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514|ENST00000482099 T;T;T;T;T|. 0.18338|. 2.22;2.22;2.22;2.22;2.22|. 5.5|5.5 3.46|3.46 0.39613|0.39613 Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);|. 0.298769|. 0.23702|. N|. 0.045413|. T|T 0.27697|0.27697 0.0681|0.0681 L|L 0.32530|0.32530 0.975|0.975 0.09310|0.09310 N|N 1|1 D;D;D|. 0.89917|. 1.0;1.0;1.0|. D;D;D|. 0.79784|. 0.993;0.987;0.987|. T|T 0.16188|0.16188 -1.0411|-1.0411 9|5 .|. .|. .|. 0.2222|0.2222 5.4076|5.4076 0.16330|0.16330 0.2773:0.0:0.7227:0.0|0.2773:0.0:0.7227:0.0 .|. 111;175;175|. B4DKN2;C9J7D0;Q9UM44|. .;.;HHLA2_HUMAN|. H|A 175;111;175;175;175|77 ENSP00000418284:D175H;ENSP00000418345:D111H;ENSP00000350402:D175H;ENSP00000419207:D175H;ENSP00000417856:D175H|. .|. D|G +|+ 1|2 0|0 HHLA2|HHLA2 109556756|109556756 0.013000|0.013000 0.17824|0.17824 0.212000|0.212000 0.23672|0.23672 0.136000|0.136000 0.21042|0.21042 1.283000|1.283000 0.33237|0.33237 1.317000|1.317000 0.45149|0.45149 0.655000|0.655000 0.94253|0.94253 GAC|GGA HHLA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353924.1 + ENST00000357759.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MR-Normal-SM-5EMME Unknown 0 bcgsc.ca 37 4 69574525 69574525 + RNA SNP A A C TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr4:69574525A>C UGT2B15 (38179 upstream) : UGT2B10 (107185 downstream) TGCCTCATAGATGCCACTGGT 0.383 0 SO:0001628 intergenic_variant 4.__UNKNOWN__:g.69574525A>C __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-SR-A6MR-Normal-SM-5EMME C9orf3 84909 broad.mit.edu 37 9 97717559 97717559 + Missense_Mutation SNP A A G TCGA-SR-A6MS-01A-11D-A35I-08 TCGA-SR-A6MS-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a 909b443d-f52c-4c16-842b-55e6b7eb666d g.chr9:97717559A>G ENST00000297979.5 + 6.0 1640 c.1465A>G c.(1465-1467)Aag>Gag p.K489E C9orf3_ENST00000375315.2_Missense_Mutation_p.K588E NM_032823.5 NP_116212.3 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 588.0 leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|nucleolus (GO:0005730) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23.0 OV - Ovarian serous cystadenocarcinoma(323;0.000275) GCATTATTTAAAGGTAAGCAC 0.423 0 94.0 82.0 86.0 9 97717559.0 2203.0 4300.0 6503.0 SO:0001583 missense AF043896 CCDS6713.1, CCDS55327.1, CCDS55328.1 9q22 2013-06-27 ENSG00000148120 ENSG00000148120 84909.0 84909.0 1361.0 protein-coding gene gene with protein product aminopeptidase O 15687497 Standard NM_032823 NM_001193329 Approved C90RF3, FLJ14675, APO, AOPEP, AP-O uc004ava.3 Q8N6M6 OTTHUMG00000020276 ENST00000297979.5:c.1465A>G 9.__UNKNOWN__:g.97717559A>G ENSP00000297979:p.Lys489Glu Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1 __UNKNOWN__ CCDS6713.1 . . . . . . . . . . A 20.2 3.952565 0.73787 . . ENSG00000148120 ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000375316 T;T;T;T 0.21361 2.01;2.01;2.01;2.01 5.0 5.0 0.66597 . 0.000000 0.85682 D 0.000000 T 0.57651 0.2068 H 0.95816 3.725 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;0.996;0.999 D;D;D;D 0.97110 0.999;1.0;0.99;0.997 T 0.70238 -0.4927 10 0.87932 D 0 -25.926 12.6087 0.56538 1.0:0.0:0.0:0.0 . 7;588;489;489 E9PF71;Q8N6M6;Q8N6M6-4;Q8N6M6-2 .;AMPO_HUMAN;.;. E 489;588;312;370;7 ENSP00000297979:K489E;ENSP00000364464:K588E;ENSP00000402171:K312E;ENSP00000401854:K370E ENSP00000297979:K489E K + 1 0 C9orf3 96757380 1.000000 0.71417 1.000000 0.80357 0.937000 0.57800 6.260000 0.72502 2.226000 0.72624 0.533000 0.62120 AAG C9orf3-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000053197.1 + ENST00000297979.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MS-Normal-SM-5EMM4 CLCN3 0 broad.mit.edu 37 4 170618774 170618774 + Silent SNP C C G TCGA-SR-A6MS-01A-11D-A35I-08 TCGA-SR-A6MS-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a 909b443d-f52c-4c16-842b-55e6b7eb666d g.chr4:170618774C>G ENST00000347613.4 + 9.0 2006 c.1452C>G c.(1450-1452)gtC>gtG p.V484V CLCN3_ENST00000513761.1_Silent_p.V484V|CLCN3_ENST00000504131.2_Silent_p.V467V|CLCN3_ENST00000360642.3_Silent_p.V457V NM_173872.3 NP_776297.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 484.0 chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810) apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506) antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247) breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29.0 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) GTAAAATTGTCGATGACATTC 0.403 0 123.0 117.0 119.0 4 170618774.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X78520 CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1 4q 2012-09-26 2012-02-23 ENSG00000109572 ENSG00000109572 1182.0 """Ion channels / Chloride channels : Voltage-sensitive""" 2021.0 protein-coding gene gene with protein product 600580 """chloride channel 3""" Standard NM_001243374 Approved CLC3, ClC-3 uc003ish.3 P51790 OTTHUMG00000160973 ENST00000347613.4:c.1452C>G 4.__UNKNOWN__:g.170618774C>G B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21 __UNKNOWN__ CCDS34100.1 . . . . . . . . . . C 5.955 0.360214 0.11296 . . ENSG00000109572 ENST00000515420 . . . 5.51 -6.66 0.01789 . . . . . T 0.36663 0.0975 . . . 0.80722 D 1 . . . . . . T 0.45454 -0.9260 4 . . . -12.9829 2.943 0.05836 0.1304:0.2381:0.4308:0.2007 . . . . W 139 . . S + 2 0 CLCN3 170855349 0.052000 0.20516 0.987000 0.45799 0.766000 0.43426 -0.818000 0.04467 -0.551000 0.06175 -1.490000 0.00973 TCG CLCN3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000363287.1 + ENST00000347613.4 Silent SNP PCPG-TCGA-SR-A6MS-Normal-SM-5EMM4 RINL 126432 broad.mit.edu 37 19 39359959 39359959 + Silent SNP G G C TCGA-SR-A6MS-01A-11D-A35I-08 TCGA-SR-A6MS-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a 909b443d-f52c-4c16-842b-55e6b7eb666d g.chr19:39359959G>C ENST00000591812.1 - 11.0 1652 c.1566C>G c.(1564-1566)tcC>tcG p.S522S RINL_ENST00000340740.3_Silent_p.S408S|RINL_ENST00000598904.1_Silent_p.S408S Q6ZS11 RINL_HUMAN Ras and Rab interactor-like 522.0 endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031) actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726) GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085) p.S408S(1) endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2) 17.0 CGCGGGCCTCGGAGCTGAGCC 0.657 1 Substitution - coding silent(1) lung(1) G , 0,4406 0,0,2203 64.0 72.0 69.0 1566,1224 -11.0 0.1 19 69.0 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous,coding-synonymous RINL NM_001195833.1,NM_198445.3 , 0,1,6502 CC,CG,GG 0.0116,0.0,0.0077 , 522/567,408/453 39359959.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK127808 CCDS12522.1, CCDS59386.1 19q13.2 2010-07-13 ENSG00000187994 ENSG00000187994 126432.0 126432.0 24795.0 protein-coding gene gene with protein product Standard NM_198445 NM_001195833 Approved FLJ45909 uc010xuo.2 Q6ZS11 ENST00000591812.1:c.1566C>G 19.__UNKNOWN__:g.39359959G>C B4DPG5 __UNKNOWN__ CCDS59386.1 RINL-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000460433.1 - ENST00000591812.1 Silent SNP PCPG-TCGA-SR-A6MS-Normal-SM-5EMM4 MYBBP1A 10514 broad.mit.edu 37 17 4453557 4453557 + Missense_Mutation SNP G G A TCGA-SR-A6MS-01A-11D-A35I-08 TCGA-SR-A6MS-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a 909b443d-f52c-4c16-842b-55e6b7eb666d g.chr17:4453557G>A ENST00000254718.4 - 9.0 1421 c.1115C>T c.(1114-1116)gCc>gTc p.A372V MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A372V Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 372.0 Interaction with MYB. {ECO:0000250}. cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24.0 CACTAGCACGGCCAGCTGCCG 0.622 0 129.0 135.0 133.0 17 4453557.0 2203.0 4300.0 6503.0 SO:0001583 missense AF147709 CCDS11046.1, CCDS42238.1 17p13.3 2008-07-18 ENSG00000132382 ENSG00000132382 10514.0 10514.0 7546.0 protein-coding gene gene with protein product """p53-activated protein-2""" 604885 10644447 Standard NM_014520 NM_014520 Approved P160, PAP2, FLJ37886 uc002fxz.4 Q9BQG0 OTTHUMG00000090747 ENST00000254718.4:c.1115C>T 17.__UNKNOWN__:g.4453557G>A ENSP00000254718:p.Ala372Val Q86VM3|Q9BW49|Q9P0V5|Q9UF99 __UNKNOWN__ CCDS11046.1 . . . . . . . . . . G 1.581 -0.531543 0.04112 . . ENSG00000132382 ENST00000381556;ENST00000254718;ENST00000426435 T;T 0.68181 -0.31;-0.31 4.89 4.89 0.63831 Armadillo-type fold (1); 0.357078 0.31976 N 0.006772 T 0.59662 0.2210 L 0.47716 1.5 0.28109 N 0.931077 P;B 0.35468 0.503;0.447 B;B 0.36244 0.22;0.14 T 0.54918 -0.8221 10 0.22109 T 0.4 -6.3061 14.906 0.70718 0.0:0.0:1.0:0.0 . 372;372 Q9BQG0;Q9BQG0-2 MBB1A_HUMAN;. V 372 ENSP00000370968:A372V;ENSP00000254718:A372V ENSP00000254718:A372V A - 2 0 MYBBP1A 4400306 0.995000 0.38212 0.011000 0.14972 0.022000 0.10575 2.762000 0.47597 2.559000 0.86315 0.655000 0.94253 GCC MYBBP1A-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000207488.2 - ENST00000254718.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MS-Normal-SM-5EMM4 PCDHB4 0 broad.mit.edu 37 5 140502423 140502423 + Missense_Mutation SNP C C A TCGA-SR-A6MS-01A-11D-A35I-08 TCGA-SR-A6MS-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a 909b443d-f52c-4c16-842b-55e6b7eb666d g.chr5:140502423C>A ENST00000194152.1 + 1.0 843 c.843C>A c.(841-843)ttC>ttA p.F281L NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 281.0 Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}. calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67.0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATGGCTTATTCCAAGCATCAG 0.368 0 97.0 112.0 107.0 5 140502423.0 2201.0 4300.0 6501.0 SO:0001583 missense AF152497 CCDS4246.1 5q31 2010-01-26 ENSG00000081818 ENSG00000081818 56131.0 56131.0 """Cadherins / Protocadherins : Clustered""" 8689.0 other protocadherin 606330 10380929 Standard NM_018938 NM_018938 Approved PCDH-BETA4 uc003lip.1 Q9Y5E5 OTTHUMG00000129617 ENST00000194152.1:c.843C>A 5.__UNKNOWN__:g.140502423C>A ENSP00000194152:p.Phe281Leu Q4V761 __UNKNOWN__ CCDS4246.1 . . . . . . . . . . C 5.160 0.215057 0.09810 . . ENSG00000081818 ENST00000194152 T 0.39592 1.07 4.41 -0.895 0.10560 Cadherin (4);Cadherin-like (1); . . . . T 0.18882 0.0453 N 0.05230 -0.09 0.21290 N 0.999737 B 0.17038 0.02 B 0.28991 0.097 T 0.26538 -1.0100 9 0.34782 T 0.22 . 1.6978 0.02866 0.1342:0.3583:0.1322:0.3753 . 281 Q9Y5E5 PCDB4_HUMAN L 281 ENSP00000194152:F281L ENSP00000194152:F281L F + 3 2 PCDHB4 140482607 0.017000 0.18338 0.267000 0.24556 0.616000 0.37450 0.378000 0.20569 -0.016000 0.14127 0.650000 0.86243 TTC PCDHB4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251812.2 + ENST00000194152.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MS-Normal-SM-5EMM4 TTLL6 284076 broad.mit.edu 37 17 46868938 46868938 + Silent SNP C C T TCGA-SR-A6MS-01A-11D-A35I-08 TCGA-SR-A6MS-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a 909b443d-f52c-4c16-842b-55e6b7eb666d g.chr17:46868938C>T ENST00000393382.3 - 9.0 1167 c.1026G>A c.(1024-1026)ttG>ttA p.L342L TTLL6_ENST00000433608.2_Silent_p.L35L NM_001130918.1 NP_001124390.1 tubulin tyrosine ligase-like family, member 6 endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18.0 TGTGGTCCTCCAAGTATGCAC 0.557 OREG0024526 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 247.0 175.0 199.0 17 46868938.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK093127 CCDS11537.2, CCDS45724.1 17q21.32 2013-02-14 ENSG00000170703 ENSG00000170703 284076.0 284076.0 """Tubulin tyrosine ligase-like family""" 26664.0 protein-coding gene gene with protein product 610849 15890843 Standard NM_173623 NM_173623 Approved FLJ35808 uc021tzm.1 Q8N841 OTTHUMG00000156978 ENST00000393382.3:c.1026G>A 17.__UNKNOWN__:g.46868938C>T 942.0 __UNKNOWN__ CCDS45724.1 TTLL6-003 KNOWN downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346939.3 - ENST00000393382.3 Silent SNP PCPG-TCGA-SR-A6MS-Normal-SM-5EMM4 INTS4 92105 broad.mit.edu 37 11 77702156 77702156 + Missense_Mutation SNP T T C TCGA-SR-A6MS-01A-11D-A35I-08 TCGA-SR-A6MS-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a 909b443d-f52c-4c16-842b-55e6b7eb666d g.chr11:77702156T>C ENST00000534064.1 - 2.0 278 c.244A>G c.(244-246)Aag>Gag p.K82E INTS4_ENST00000527522.1_Missense_Mutation_p.K82E|INTS4_ENST00000529807.1_Missense_Mutation_p.K82E NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 82.0 snRNA processing (GO:0016180) integrator complex (GO:0032039) INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32.0 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) TTTCTTACCTTGTAATAATGT 0.418 0 86.0 85.0 85.0 11 77702156.0 2200.0 4292.0 6492.0 SO:0001583 missense BC015664 CCDS31644.1 11q14.1 2006-04-26 ENSG00000149262 ENSG00000149262 92105.0 92105.0 25048.0 protein-coding gene gene with protein product 611348 16239144 Standard NM_033547 NM_033547 Approved INT4, MGC16733, MST093 uc001oys.3 Q96HW7 OTTHUMG00000166629 ENST00000534064.1:c.244A>G 11.__UNKNOWN__:g.77702156T>C ENSP00000434466:p.Lys82Glu Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0 __UNKNOWN__ CCDS31644.1 . . . . . . . . . . T 32 5.174823 0.94807 . . ENSG00000149262 ENST00000534064;ENST00000529807;ENST00000527522 T;T 0.64991 -0.13;1.47 5.41 5.41 0.78517 Armadillo-like helical (1);Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.76140 0.3946 M 0.62723 1.935 0.80722 D 1 D 0.69078 0.997 D 0.73380 0.98 T 0.76898 -0.2789 10 0.49607 T 0.09 -19.0133 15.6077 0.76685 0.0:0.0:0.0:1.0 . 82 Q96HW7 INT4_HUMAN E 82 ENSP00000434466:K82E;ENSP00000433644:K82E ENSP00000407787:K82E K - 1 0 INTS4 77379804 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.280000 0.78610 2.272000 0.75746 0.523000 0.50628 AAG INTS4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390927.1 - ENST00000534064.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MS-Normal-SM-5EMM4 HYDIN 54768 broad.mit.edu 37 16 71054178 71054178 + Missense_Mutation SNP T T C rs117718337 TCGA-SR-A6MS-01A-11D-A35I-08 TCGA-SR-A6MS-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a 909b443d-f52c-4c16-842b-55e6b7eb666d g.chr16:71054178T>C ENST00000393567.2 - 22.0 3379 c.3229A>G c.(3229-3231)Ata>Gta p.I1077V HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1077.0 I -> V (in dbSNP:rs6416709). cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591) cell projection (GO:0042995) p.I1077V(3)|p.I1029V(3) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43.0 Ovarian(137;0.0654) ATGTTCTTTATGGCCAAGGGC 0.418 6 Substitution - Missense(6) lung(2)|prostate(2)|endometrium(2) 129.0 123.0 125.0 16 71054178.0 1855.0 4094.0 5949.0 SO:0001583 missense AK074472 CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1 16q22.2 2014-02-05 2012-01-06 ENSG00000157423 ENSG00000157423 54768.0 54768.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 19368.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 31""" 610812 """hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)""" 12719380, 23022101 Standard NM_001198542 Approved DKFZp434D0513, KIAA1864, PPP1R31, CILD5 uc031qwy.1 Q4G0P3 OTTHUMG00000137584 ENST00000393567.2:c.3229A>G 16.__UNKNOWN__:g.71054178T>C ENSP00000377197:p.Ile1077Val A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5 __UNKNOWN__ CCDS59269.1 . . . . . . . . . . t 6.789 0.514533 0.12944 . . ENSG00000157423 ENST00000393567;ENST00000316490;ENST00000448089 T;T 0.06371 3.31;3.31 4.61 0.358 0.16084 . 0.892413 0.09073 U 0.852581 T 0.06096 0.0158 L 0.58101 1.795 0.80722 D 1 B 0.09022 0.002 B 0.10450 0.005 T 0.33059 -0.9883 10 0.18710 T 0.47 . 1.4303 0.02332 0.2901:0.0873:0.1652:0.4573 rs6416709;rs60865895 1077 F8WD23 . V 1077;1077;1029 ENSP00000377197:I1077V;ENSP00000398544:I1029V ENSP00000313052:I1077V I - 1 0 HYDIN 69611679 0.055000 0.20627 0.982000 0.44146 0.109000 0.19521 0.089000 0.15002 0.228000 0.21019 -0.676000 0.03789 ATA HYDIN-001 PUTATIVE not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000398624.3 - ENST00000393567.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MS-Normal-SM-5EMM4 RFX6 222546 broad.mit.edu 37 6 117203568 117203568 + Silent SNP G G A TCGA-SR-A6MS-01A-11D-A35I-08 TCGA-SR-A6MS-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a 909b443d-f52c-4c16-842b-55e6b7eb666d g.chr6:117203568G>A ENST00000332958.2 + 4.0 559 c.543G>A c.(541-543)cgG>cgA p.R181R NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 181.0 R -> Q (in MTCHRS; abolishes DNA- binding). {ECO:0000269|PubMed:20148032}. endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309) nucleus (GO:0005634) transcription regulatory region DNA binding (GO:0044212) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59.0 CAACAAGGCGGCTTGGAACAA 0.393 0 103.0 89.0 93.0 6 117203568.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC039248 CCDS5113.1 6q22.31 2008-08-04 2008-08-04 2008-08-04 ENSG00000185002 ENSG00000185002 222546.0 222546.0 21478.0 protein-coding gene gene with protein product 612659 """regulatory factor X domain containing 1""" RFXDC1 Standard NM_173560 NM_173560 Approved MGC33442, dJ955L16.1 uc003pxm.3 Q8HWS3 OTTHUMG00000015449 ENST00000332958.2:c.543G>A 6.__UNKNOWN__:g.117203568G>A Q5T6B3 __UNKNOWN__ CCDS5113.1 RFX6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041970.2 + ENST00000332958.2 Silent SNP PCPG-TCGA-SR-A6MS-Normal-SM-5EMM4 POPDC3 64208 broad.mit.edu 37 6 105609351 105609351 + Missense_Mutation SNP G G A TCGA-SR-A6MS-01A-11D-A35I-08 TCGA-SR-A6MS-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a 909b443d-f52c-4c16-842b-55e6b7eb666d g.chr6:105609351G>A ENST00000254765.3 - 2.0 712 c.434C>T c.(433-435)gCc>gTc p.A145V BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369122.3_RNA NM_022361.4 NP_071756.2 Q9HBV1 POPD3_HUMAN popeye domain containing 3 145.0 regulation of membrane potential (GO:0042391) integral component of membrane (GO:0016021) NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1) 26.0 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) CCCCTGCATGGCATAACAGTG 0.443 0 125.0 129.0 127.0 6 105609351.0 2203.0 4300.0 6503.0 SO:0001583 missense BC022323 CCDS5052.1 6q21 2003-06-12 ENSG00000132429 ENSG00000132429 64208.0 64208.0 17649.0 protein-coding gene gene with protein product 605824 10882522 Standard NM_022361 NM_022361 Approved POP3, MGC22671, bA355M14.1 uc003prb.3 Q9HBV1 OTTHUMG00000015293 ENST00000254765.3:c.434C>T 6.__UNKNOWN__:g.105609351G>A ENSP00000254765:p.Ala145Val B2RA98|Q5T3Y8|Q8TBW6 __UNKNOWN__ CCDS5052.1 . . . . . . . . . . G 32 5.175650 0.94807 . . ENSG00000132429 ENST00000254765 T 0.50277 0.75 5.66 5.66 0.87406 Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1); 0.000000 0.85682 D 0.000000 T 0.67420 0.2891 M 0.80746 2.51 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.67814 -0.5573 10 0.49607 T 0.09 -9.4632 19.7218 0.96145 0.0:0.0:1.0:0.0 . 145 Q9HBV1 POPD3_HUMAN V 145 ENSP00000254765:A145V ENSP00000254765:A145V A - 2 0 POPDC3 105716044 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.869000 0.99810 2.669000 0.90835 0.655000 0.94253 GCC POPDC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041651.1 - ENST00000254765.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MS-Normal-SM-5EMM4 FBF1 85302 broad.mit.edu 37 17 73909901 73909901 + Splice_Site SNP C C T TCGA-SR-A6MS-01A-11D-A35I-08 TCGA-SR-A6MS-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a 909b443d-f52c-4c16-842b-55e6b7eb666d g.chr17:73909901C>T ENST00000586717.1 - 27.0 3358 c.e27-1 FBF1_ENST00000319129.5_Splice_Site|FBF1_ENST00000389570.4_Splice_Site Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162) cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922) large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4.0 TCAGATGCTCCTGTCCCCGTT 0.677 0 18.0 21.0 20.0 17 73909901.0 2002.0 4179.0 6181.0 SO:0001630 splice_region_variant AK074045 CCDS45779.1 17q25.3 2011-04-21 ENSG00000188878 ENSG00000188878 85302.0 85302.0 24674.0 protein-coding gene gene with protein product """albatross""" 11347906 Standard NM_001080542 NM_001080542 Approved FLJ00103, FBF-1, KIAA1863, ALB uc002jqc.3 Q8TES7 ENST00000586717.1:c.3085-1G>A 17.__UNKNOWN__:g.73909901C>T B5MEM5|Q96IF6|Q96JG4|Q96MA8 __UNKNOWN__ . . . . . . . . . . C 21.7 4.189074 0.78789 . . ENSG00000188878 ENST00000389570;ENST00000319129;ENST00000427433 . . . 4.96 4.96 0.65561 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 16.7731 0.85544 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . FBF1 71421496 1.000000 0.71417 1.000000 0.80357 0.878000 0.50629 3.654000 0.54453 2.286000 0.76751 0.455000 0.32223 . FBF1-001 KNOWN basic|appris_candidate protein_coding protein_coding OTTHUMT00000448945.2 Intron - ENST00000586717.1 Splice_Site SNP PCPG-TCGA-SR-A6MS-Normal-SM-5EMM4 FAM178A 55719 bcgsc.ca 37 10 102689585 102689585 + Splice_Site SNP A A G TCGA-SR-A6MS-01A-11D-A35I-08 TCGA-SR-A6MS-10A-01D-A35G-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a 909b443d-f52c-4c16-842b-55e6b7eb666d g.chr10:102689585A>G ENST00000238961.4 + 8.0 2707 c.e8-1 FAM178A_ENST00000370269.3_Splice_Site NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634) TTTATGTTTCAGGGAATTTCT 0.279 0 34.0 36.0 35.0 10 102689585.0 2194.0 4282.0 6476.0 SO:0001630 splice_region_variant AF460991 CCDS7500.1, CCDS44470.1, CCDS65918.1 10q24.31 2008-07-18 2008-07-18 2008-07-18 ENSG00000119906 ENSG00000119906 55719.0 17814.0 protein-coding gene gene with protein product 610348 """chromosome 10 open reading frame 6""" C10orf6 12459258 Standard NM_018121 Approved FLJ10512, FLJ25012 uc001krs.3 Q8IX21 OTTHUMG00000018919 ENST00000238961.4:c.2166-1A>G 10.__UNKNOWN__:g.102689585A>G A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8 __UNKNOWN__ CCDS7500.1 . . . . . . . . . . A 19.60 3.857596 0.71834 . . ENSG00000119906 ENST00000238961;ENST00000370269 . . . 5.5 5.5 0.81552 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 14.5787 0.68271 1.0:0.0:0.0:0.0 . . . . . -1 . . . + . . FAM178A 102679575 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 6.366000 0.73095 2.308000 0.77769 0.533000 0.62120 . FAM178A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000049897.3 Intron + ENST00000238961.4 Splice_Site SNP PCPG-TCGA-SR-A6MS-Normal-SM-5EMM4 Unknown 0 bcgsc.ca 37 12 7759779 7759779 + RNA SNP T T A TCGA-SR-A6MS-01A-11D-A35I-08 TCGA-SR-A6MS-10A-01D-A35G-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a 909b443d-f52c-4c16-842b-55e6b7eb666d g.chr12:7759779T>A CD163 (103290 upstream) : APOBEC1 (42216 downstream) AAGAAGCCTTTGTAAATGACA 0.453 0 SO:0001628 intergenic_variant 12.__UNKNOWN__:g.7759779T>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-SR-A6MS-Normal-SM-5EMM4 ALS2CL 259173 ucsc.edu 37 3 46728472 46728472 + Splice_Site SNP C C T TCGA-SR-A6MS-01A-11D-A35I-08 TCGA-SR-A6MS-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a 909b443d-f52c-4c16-842b-55e6b7eb666d g.chr3:46728472C>T ENST00000318962.4 - 5.0 618 c.e5+1 ALS2CL_ENST00000415953.1_Splice_Site NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like endosome organization (GO:0007032)|protein localization (GO:0008104) cytoplasmic membrane-bounded vesicle (GO:0016023) GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) 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) 29.0 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) CTGGTACCCACCTCCCCAATG 0.647 0 41.0 40.0 41.0 3 46728472.0 2202.0 4298.0 6500.0 SO:0001630 splice_region_variant AK074118 CCDS2743.1, CCDS43080.1 3p21.31 2008-01-30 ENSG00000178038 ENSG00000178038 259173.0 259173.0 20605.0 protein-coding gene gene with protein product 612402 15388334, 8889548, 17239822 Standard NM_147129 NM_147129 Approved FLJ36525, RN49018, DKFZp686I0110 uc003cqb.2 Q60I27 OTTHUMG00000128673 ENST00000318962.4:c.534+1G>A 3.__UNKNOWN__:g.46728472C>T Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7 __UNKNOWN__ CCDS2743.1 . . . . . . . . . . C 9.979 1.227604 0.22542 . . ENSG00000178038 ENST00000318962;ENST00000415953 . . . 3.83 3.83 0.44106 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 11.542 0.50672 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . ALS2CL 46703476 1.000000 0.71417 0.971000 0.41717 0.028000 0.11728 4.582000 0.60957 2.439000 0.82584 0.655000 0.94253 . ALS2CL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250567.3 Intron - ENST00000318962.4 Splice_Site SNP PCPG-TCGA-SR-A6MS-Normal-SM-5EMM4 CAPN5 726 ucsc.edu 37 11 76830132 76830132 + Silent SNP G G A TCGA-SR-A6MS-01A-11D-A35I-08 TCGA-SR-A6MS-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a 909b443d-f52c-4c16-842b-55e6b7eb666d g.chr11:76830132G>A ENST00000456580.2 + 10.0 1481 c.1344G>A c.(1342-1344)cgG>cgA p.R448R CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000278559.3_Silent_p.R408R|CAPN5_ENST00000529629.1_Silent_p.R408R O15484 CAN5_HUMAN calpain 5 408.0 Domain III. proteolysis (GO:0006508)|signal transduction (GO:0007165) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925) calcium-dependent cysteine-type endopeptidase activity (GO:0004198) NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30.0 TCCAGCAGCGGCCAAAGCGGT 0.592 0 80.0 64.0 70.0 11 76830132.0 2200.0 4292.0 6492.0 SO:0001819 synonymous_variant CCDS8248.1 11q14 2014-01-29 ENSG00000149260 726.0 726.0 1482.0 protein-coding gene gene with protein product 602537 """vitreoretinopathy, neovascular inflammatory""" VRNI 9503024, 9367857, 23055945 Standard NM_004055 NM_004055 Approved nCL-3, HTRA3, ADNIV uc001oxx.3 O15484 ENST00000456580.2:c.1344G>A 11.__UNKNOWN__:g.76830132G>A O00263 __UNKNOWN__ CAPN5-004 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000382568.1 + ENST00000456580.2 Silent SNP PCPG-TCGA-SR-A6MS-Normal-SM-5EMM4 FBXW11 23291 ucsc.edu 37 5 171341409 171341409 + Missense_Mutation SNP T T A TCGA-SR-A6MS-01A-11D-A35I-08 TCGA-SR-A6MS-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a 909b443d-f52c-4c16-842b-55e6b7eb666d g.chr5:171341409T>A ENST00000296933.6 - 2.0 416 c.46A>T c.(46-48)Aac>Tac p.N16Y FBXW11_ENST00000265094.5_Intron|FBXW11_ENST00000425623.2_5'UTR|FBXW11_ENST00000393802.2_Intron NM_033644.2|NM_033645.2 NP_387448.2|NP_387449.2 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 16.0 G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055) centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151) ubiquitin-protein transferase activity (GO:0004842) breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2) 21.0 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) ACTGAAGTGTTCTAGGGGGGG 0.358 0 77.0 67.0 70.0 5 171341409.0 1811.0 4068.0 5879.0 SO:0001630 splice_region_variant AB014596 CCDS34289.1, CCDS47340.1, CCDS47341.1 5q35.1 2013-01-09 2007-02-08 2004-06-16 ENSG00000072803 ENSG00000072803 23291.0 23291.0 """F-boxes / WD-40 domains"", ""WD repeat domain containing""" 13607.0 protein-coding gene gene with protein product 605651 """F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11""" FBXW1B 10531035, 10694485 Standard NM_012300 NM_033644 Approved KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11 uc003mbm.1 Q9UKB1 OTTHUMG00000163267 ENST00000296933.6:c.46-1A>T 5.__UNKNOWN__:g.171341409T>A B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6 __UNKNOWN__ CCDS47341.1 . . . . . . . . . . T 19.59 3.856874 0.71834 . . ENSG00000072803 ENST00000296933;ENST00000517395;ENST00000518752 T;T 0.60171 0.21;0.6 4.96 4.96 0.65561 . . . . . T 0.50854 0.1640 . . . 0.80722 D 1 P 0.36249 0.545 B 0.34931 0.192 T 0.57195 -0.7853 8 0.66056 D 0.02 . 13.1856 0.59680 0.0:0.0:0.0:1.0 . 16 Q9UKB1-3 . Y 16;50;12 ENSP00000296933:N16Y;ENSP00000428753:N50Y ENSP00000296933:N16Y N - 1 0 FBXW11 171274014 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.786000 0.69006 1.993000 0.58246 0.528000 0.53228 AAC FBXW11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000372381.1 Missense_Mutation - ENST00000296933.6 Splice_Site SNP PCPG-TCGA-SR-A6MS-Normal-SM-5EMM4 MAP2K3 5606 hgsc.bcm.edu 37 17 21216820 21216820 + Missense_Mutation SNP G G A rs55740804 byFrequency TCGA-SR-A6MS-01A-11D-A35I-08 TCGA-SR-A6MS-10A-01D-A35G-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a 909b443d-f52c-4c16-842b-55e6b7eb666d g.chr17:21216820G>A ENST00000342679.4 + 11.0 1180 c.931G>A c.(931-933)Gca>Aca p.A311T MAP2K3_ENST00000361818.5_Missense_Mutation_p.A282T|MAP2K3_ENST00000316920.6_Missense_Mutation_p.A282T NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 311.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713) p.A315S(1) COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) GAAGAACCCCGCAGAGCGTAT 0.652 G 2.0 0.0009 0.0028 2184.0 0.9999 , , 0.0003 0.0013 0.001 0.9547 EXOME 0.0001 SNP 1 Substitution - Missense(1) large_intestine(1) G THR/ALA,THR/ALA 0,4406 0,0,2203 64.0 56.0 59.0 844,931 4.2 0.1 17 dbSNP_129 59.0 12,8588 6.4+/-24.3 0,12,4288 yes missense,missense MAP2K3 NM_002756.4,NM_145109.2 58,58 0,12,6491 AA,AG,GG 0.1395,0.0,0.0923 benign,benign 282/319,311/348 21216820.0 12,12994 2203.0 4300.0 6503.0 SO:0001583 missense L36719 CCDS11217.1, CCDS11218.1 17q11.2 2011-06-09 ENSG00000034152 ENSG00000034152 5606.0 5606.0 """Mitogen-activated protein kinase cascade / Kinase kinases""" 6843.0 protein-coding gene gene with protein product """MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3""" 602315 PRKMK3 9465908 Standard NM_145109 NM_145109 Approved MEK3, MKK3, MAPKK3 uc002gys.3 P46734 OTTHUMG00000134322 ENST00000342679.4:c.931G>A 17.__UNKNOWN__:g.21216820G>A ENSP00000345083:p.Ala311Thr B3KSK7|Q99441|Q9UE71|Q9UE72 __UNKNOWN__ CCDS11217.1 2 9.157509157509158E-4 0 0.0 1 0.0027624309392265192 0 0.0 1 0.0013192612137203166 G 11.32 1.604738 0.28623 0.0 0.001395 ENSG00000034152 ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920 T;T 0.66280 -0.2;-0.2 5.21 4.24 0.50183 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.169215 0.39759 N 0.001272 T 0.42966 0.1226 N 0.21097 0.63 0.20563 N 0.999886 B 0.24368 0.102 B 0.15052 0.012 T 0.19160 -1.0314 10 0.18710 T 0.47 -22.417 9.8018 0.40768 0.1562:0.0:0.8438:0.0 rs55740804 311 P46734 MP2K3_HUMAN T 311;282;282;315 ENSP00000345083:A311T;ENSP00000355081:A282T ENSP00000319139:A315T A + 1 0 MAP2K3 21157413 0.005000 0.15991 0.090000 0.20809 0.789000 0.44602 1.668000 0.37481 1.184000 0.42957 0.655000 0.94253 GCA MAP2K3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259374.2 + ENST00000342679.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MS-Normal-SM-5EMM4 IGHA2 0 broad.mit.edu 37 14 106054030 106054030 + RNA SNP C C G TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr14:106054030C>G ENST00000390539.2 - 0.0 488 P01877 IGHA2_HUMAN immunoglobulin heavy constant alpha 2 (A2m marker) antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751) antigen binding (GO:0003823) AGAGGTCACGCTCAGGTGGTC 0.632 0 C 0,4258 0,0,2129 32.0 39.0 37.0 3.3 0.0 14 37.0 2,8464 0,2,4231 no intergenic 0,2,6360 GG,GC,CC 0.0236,0.0,0.0157 106054030.0 2,12722 2129.0 4233.0 6362.0 J00221 14q32.33 2012-10-02 ENSG00000211890 ENSG00000211890 3494.0 3494.0 """Immunoglobulins / IGH locus""" 5479.0 other immunoglobulin gene 147000 Standard NG_001019 NG_001019 Approved P01877 OTTHUMG00000152472 ENST00000390539.2: 14.__UNKNOWN__:g.106054030C>G __UNKNOWN__ IGHA2-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal IG_C_gene IG_C_gene OTTHUMT00000326338.1 - ENST00000390539.2 RNA SNP PCPG-TCGA-SR-A6MT-Normal-SM-5EMMZ HPS4 89781 broad.mit.edu 37 22 26854435 26854435 + Missense_Mutation SNP C C T TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr22:26854435C>T ENST00000398145.2 - 12.0 2438 c.1822G>A c.(1822-1824)Gac>Aac p.D608N HPS4_ENST00000398141.1_Missense_Mutation_p.D621N|HPS4_ENST00000402105.3_Missense_Mutation_p.D603N|HPS4_ENST00000336873.5_Missense_Mutation_p.D608N|HPS4_ENST00000493455.2_5'UTR NM_022081.5 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 608.0 blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605) BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827) protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803) breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32.0 TGAATGCGGTCGTAATGTGTG 0.577 Hermansky-Pudlak syndrome 0 113.0 89.0 97.0 22 26854435.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database HPS, HPS1-8 CCDS13835.1, CCDS46677.1 22q12.1 2014-09-17 ENSG00000100099 ENSG00000100099 89781.0 89781.0 15844.0 protein-coding gene gene with protein product 606682 11836498, 12663659 Standard NM_022081 NM_022081 Approved KIAA1667, LE uc003aci.4 Q9NQG7 OTTHUMG00000030459 ENST00000398145.2:c.1822G>A 22.__UNKNOWN__:g.26854435C>T ENSP00000381213:p.Asp608Asn B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38 __UNKNOWN__ CCDS13835.1 . . . . . . . . . . C 32 5.155505 0.94686 . . ENSG00000100099 ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873 T;T;T;T 0.21191 2.02;2.02;2.02;2.02 4.7 4.7 0.59300 . 0.000000 0.85682 D 0.000000 T 0.48978 0.1530 M 0.77103 2.36 0.49582 D 0.9998 D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0 D;D;D;D;D 0.97110 1.0;1.0;1.0;1.0;1.0 T 0.54516 -0.8282 10 0.87932 D 0 -36.7621 16.8245 0.85927 0.0:1.0:0.0:0.0 . 608;608;608;621;603 Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3 .;HPS4_HUMAN;.;.;. N 608;621;603;608 ENSP00000381213:D608N;ENSP00000381210:D621N;ENSP00000384185:D603N;ENSP00000338457:D608N ENSP00000338457:D608N D - 1 0 HPS4 25184435 1.000000 0.71417 0.883000 0.34634 0.862000 0.49288 6.553000 0.73918 2.437000 0.82529 0.655000 0.94253 GAC HPS4-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320778.1 - ENST00000398145.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MT-Normal-SM-5EMMZ SEPT8 23176 broad.mit.edu 37 5 132099470 132099470 + Silent SNP G G C TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr5:132099470G>C ENST00000378721.4 - 4.0 556 c.456C>G c.(454-456)ctC>ctG p.L152L SEPT8_ENST00000378701.1_Silent_p.L152L|SEPT8_ENST00000296873.7_Silent_p.L154L|SEPT8_ENST00000458488.2_Silent_p.L154L|SEPT8_ENST00000448933.1_Silent_p.L94L|SEPT8_ENST00000378719.2_Silent_p.L154L|SEPT8_ENST00000378699.2_Silent_p.L94L|SEPT8_ENST00000378706.1_Silent_p.L154L Q92599 SEPT8_HUMAN septin 8 154.0 Septin-type G. cell cycle (GO:0007049) septin complex (GO:0031105) GTP binding (GO:0005525) SEPT8/AFF4(2) kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 11.0 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGATGAAGTAGAGGCAAACGT 0.512 0 193.0 196.0 195.0 5 132099470.0 2038.0 4202.0 6240.0 SO:0001819 synonymous_variant AF179995 CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1 5q31 2013-01-21 ENSG00000164402 ENSG00000164402 23176.0 23176.0 """Septins""" 16511.0 protein-coding gene gene with protein product 608418 9039502, 9149945 Standard XM_034872 NM_001098812 Approved KIAA0202, SEP2 uc003kxr.2 Q92599 OTTHUMG00000059735 ENST00000378721.4:c.456C>G 5.__UNKNOWN__:g.132099470G>C A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3 __UNKNOWN__ SEPT8-006 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000132831.2 - ENST00000378721.4 Silent SNP PCPG-TCGA-SR-A6MT-Normal-SM-5EMMZ FXR1 0 broad.mit.edu 37 3 180630496 180630496 + Missense_Mutation SNP T T G TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr3:180630496T>G ENST00000357559.4 + 1.0 407 c.23T>G c.(22-24)gTt>gGt p.V8G FXR1_ENST00000305586.7_5'UTR|FXR1_ENST00000491062.1_Missense_Mutation_p.V8G|FXR1_ENST00000468861.1_5'UTR|FXR1_ENST00000445140.2_Missense_Mutation_p.V8G|FXR1_ENST00000491674.1_Missense_Mutation_p.V8G NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 8.0 Agenet-like 1. apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148) costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844) G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26.0 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) ACGGTGGAGGTTCGCGGCTCT 0.592 OREG0015934 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 146.0 145.0 146.0 3 180630496.0 2203.0 4300.0 6503.0 SO:0001583 missense M67468 CCDS3238.1, CCDS33894.1, CCDS46965.1 3q28 2014-01-28 ENSG00000114416 ENSG00000114416 8087.0 4023.0 protein-coding gene gene with protein product 600819 7781595, 9642279 Standard NM_005087 Approved uc003fkq.3 P51114 OTTHUMG00000158138 ENST00000357559.4:c.23T>G 3.__UNKNOWN__:g.180630496T>G ENSP00000350170:p.Val8Gly 1963.0 A8K9B8|Q7Z450|Q8N6R8 __UNKNOWN__ CCDS3238.1 . . . . . . . . . . T 11.59 1.685380 0.29872 . . ENSG00000114416 ENST00000357559;ENST00000491674;ENST00000491062;ENST00000445140 T;T;T 0.59906 0.89;0.48;0.23 3.93 2.78 0.32641 . 0.292430 0.31246 N 0.007986 T 0.70176 0.3194 M 0.71036 2.16 0.80722 D 1 D;B;B 0.89917 1.0;0.019;0.007 D;B;B 0.91635 0.999;0.156;0.026 T 0.70389 -0.4885 10 0.87932 D 0 -2.4011 7.6175 0.28167 0.0:0.1043:0.0:0.8957 . 8;8;8 E9PFF5;P51114-2;P51114 .;.;FXR1_HUMAN G 8 ENSP00000350170:V8G;ENSP00000420643:V8G;ENSP00000388828:V8G ENSP00000350170:V8G V + 2 0 FXR1 182113190 1.000000 0.71417 1.000000 0.80357 0.921000 0.55340 4.941000 0.63540 0.867000 0.35654 0.459000 0.35465 GTT FXR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350265.5 + ENST00000357559.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MT-Normal-SM-5EMMZ RSBN1L 222194 broad.mit.edu 37 7 77326163 77326163 + Missense_Mutation SNP G G A TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr7:77326163G>A ENST00000334955.8 + 1.0 404 c.377G>A c.(376-378)cGc>cAc p.R126H NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 126.0 nucleus (GO:0005634) central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30.0 CCGGTGCCGCGCAAACTGCTG 0.677 0 18.0 23.0 22.0 7 77326163.0 2150.0 4241.0 6391.0 SO:0001583 missense AK124517 CCDS43607.1 7q21.11 2004-08-11 ENSG00000187257 ENSG00000187257 222194.0 222194.0 24765.0 protein-coding gene gene with protein product 12477932 Standard NM_198467 NM_198467 Approved FLJ42526, FLJ45813, MGC71764 uc010ldt.1 Q6PCB5 OTTHUMG00000155517 ENST00000334955.8:c.377G>A 7.__UNKNOWN__:g.77326163G>A ENSP00000334040:p.Arg126His C9K0P1|Q6ZS58|Q6ZVI9|Q86X48 __UNKNOWN__ CCDS43607.1 . . . . . . . . . . G 18.11 3.550493 0.65311 . . ENSG00000187257 ENST00000334955 T 0.07444 3.19 3.52 3.52 0.40303 . 0.504809 0.18273 N 0.146255 T 0.15912 0.0383 L 0.27053 0.805 0.80722 D 1 D 0.76494 0.999 D 0.78314 0.991 T 0.03673 -1.1014 10 0.46703 T 0.11 -5.4532 12.2417 0.54546 0.0:0.0:1.0:0.0 . 126 Q6PCB5 RSBNL_HUMAN H 126 ENSP00000334040:R126H ENSP00000334040:R126H R + 2 0 RSBN1L 77164099 1.000000 0.71417 1.000000 0.80357 0.959000 0.62525 3.044000 0.49830 1.948000 0.56530 0.313000 0.20887 CGC RSBN1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340455.3 + ENST00000334955.8 Missense_Mutation SNP PCPG-TCGA-SR-A6MT-Normal-SM-5EMMZ DAK 26007 broad.mit.edu 37 11 61110893 61110893 + Silent SNP C C A TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr11:61110893C>A ENST00000394900.3 + 11.0 1174 c.945C>A c.(943-945)acC>acA p.T315T NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 315.0 DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}. carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354) NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23.0 TTTCTCTCACCCTCCTGCTGG 0.592 0 107.0 104.0 105.0 11 61110893.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant CCDS8003.1 11q12.2 2009-11-06 2006-04-04 ENSG00000149476 ENSG00000149476 26007.0 26007.0 24552.0 protein-coding gene gene with protein product 615844 """dihydroxyacetone kinase 2 homolog (yeast)""" Standard NM_015533 XM_005273898 Approved DKFZP586B1621, NET45 uc001nre.3 Q3LXA3 OTTHUMG00000168076 ENST00000394900.3:c.945C>A 11.__UNKNOWN__:g.61110893C>A Q2L9C1|Q53EQ9|Q9BVA7|Q9H895 __UNKNOWN__ CCDS8003.1 DAK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394425.4 + ENST00000394900.3 Silent SNP PCPG-TCGA-SR-A6MT-Normal-SM-5EMMZ HAP1 9001 broad.mit.edu 37 17 39884515 39884515 + Nonsense_Mutation SNP G G A TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr17:39884515G>A ENST00000310778.5 - 7.0 1147 c.1138C>T c.(1138-1140)Cag>Tag p.Q380* HAP1_ENST00000393939.2_Nonsense_Mutation_p.Q380*|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Nonsense_Mutation_p.Q380*|HAP1_ENST00000341193.5_Nonsense_Mutation_p.Q388* P54257 HAP1_HUMAN huntingtin-associated protein 1 380.0 Glu-rich.|HAP1 N-terminal. anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202) brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21.0 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) TCCTGCTGCTGCCGTTCATAG 0.657 0 48.0 42.0 44.0 17 39884515.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AF040723 CCDS11406.1, CCDS42338.1, CCDS42339.1 17q21.2-q21.3 2008-04-23 2008-04-23 ENSG00000173805 ENSG00000173805 9001.0 9001.0 4812.0 protein-coding gene gene with protein product """neuroan 1""" 600947 HAP2 7477378, 9668110 Standard NM_003949 NM_177977 Approved HLP, hHLP1, HIP5 uc002hxn.1 P54257 OTTHUMG00000133498 ENST00000310778.5:c.1138C>T 17.__UNKNOWN__:g.39884515G>A ENSP00000309392:p.Gln380* A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90 __UNKNOWN__ . . . . . . . . . . G 24.9 4.582033 0.86748 . . ENSG00000173805 ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193 . . . 4.14 3.16 0.36331 . 0.000000 0.39687 N 0.001299 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.72032 D 0.01 -29.6099 7.9593 0.30062 0.1125:0.0:0.8875:0.0 . . . . X 380;380;380;388 . ENSP00000309392:Q380X Q - 1 0 HAP1 37138041 1.000000 0.71417 0.978000 0.43139 0.580000 0.36256 2.546000 0.45778 0.989000 0.38761 0.549000 0.68633 CAG HAP1-006 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000389619.1 - ENST00000310778.5 Nonsense_Mutation SNP PCPG-TCGA-SR-A6MT-Normal-SM-5EMMZ KCNT2 343450 broad.mit.edu 37 1 196398825 196398825 + Missense_Mutation SNP T T C TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr1:196398825T>C ENST00000294725.9 - 9.0 1616 c.701A>G c.(700-702)tAt>tGt p.Y234C KCNT2_ENST00000609185.1_Missense_Mutation_p.Y234C|KCNT2_ENST00000367433.5_Missense_Mutation_p.Y234C|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.Y234C|KCNT2_ENST00000451324.2_Intron Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 234.0 potassium ion transmembrane transport (GO:0071805) voltage-gated potassium channel complex (GO:0008076) ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249) 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) 97.0 AATGCAGAAATAAAGGGAGTC 0.388 0 101.0 89.0 93.0 1 196398825.0 2203.0 4300.0 6503.0 SO:0001583 missense BX647852, AY359444, AK127807 CCDS1384.1, CCDS72994.1, CCDS72995.1 1q31.3 2012-07-05 ENSG00000162687 ENSG00000162687 343450.0 343450.0 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated""" 18866.0 protein-coding gene gene with protein product """sodium and chloride activated ATP sensitive potassium channel""" 610044 16382103 Standard NM_198503 NM_198503 Approved KCa4.2, SLICK, SLO2.1 uc001gtd.1 Q6UVM3 OTTHUMG00000035611 ENST00000294725.9:c.701A>G 1.__UNKNOWN__:g.196398825T>C ENSP00000294725:p.Tyr234Cys Q3SY59|Q5VTN1|Q6ZMT3 __UNKNOWN__ CCDS1384.1 . . . . . . . . . . T 21.4 4.137057 0.77775 . . ENSG00000162687 ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725 T;T;T 0.48201 0.82;0.82;0.82 5.31 5.31 0.75309 Ion transport 2 (1); 0.000000 0.49305 D 0.000147 T 0.80433 0.4622 H 0.98238 4.18 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 0.999;1.0;0.999;0.999 D 0.88015 0.2765 10 0.87932 D 0 -19.7056 15.2557 0.73582 0.0:0.0:0.0:1.0 . 234;234;234;234 A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3 .;.;.;KCNT2_HUMAN C 234;234;55;234 ENSP00000356403:Y234C;ENSP00000356401:Y234C;ENSP00000294725:Y234C ENSP00000294725:Y234C Y - 2 0 KCNT2 194665448 1.000000 0.71417 1.000000 0.80357 0.925000 0.55904 8.035000 0.88872 2.012000 0.59069 0.533000 0.62120 TAT KCNT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086418.2 - ENST00000294725.9 Missense_Mutation SNP PCPG-TCGA-SR-A6MT-Normal-SM-5EMMZ KCNH6 81033 broad.mit.edu 37 17 61619703 61619703 + Nonsense_Mutation SNP C C T TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr17:61619703C>T ENST00000583023.1 + 9.0 2067 c.2056C>T c.(2056-2058)Cag>Tag p.Q686* KCNH6_ENST00000456941.2_Nonsense_Mutation_p.Q633*|KCNH6_ENST00000314672.5_Nonsense_Mutation_p.Q686*|KCNH6_ENST00000581784.1_Nonsense_Mutation_p.Q633* NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 686.0 potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249) 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) 54.0 Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162) GCACAAGATCCAGCGGGCAGA 0.592 0 103.0 87.0 92.0 17 61619703.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AF311913 CCDS11638.1, CCDS11639.1, CCDS62290.1 17q23.3 2012-07-05 ENSG00000173826 81033.0 81033.0 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels""" 18862.0 protein-coding gene gene with protein product 608168 16382104 Standard NM_030779 NM_030779 Approved Kv11.2, erg2, HERG2 uc002jay.3 Q9H252 ENST00000583023.1:c.2056C>T 17.__UNKNOWN__:g.61619703C>T ENSP00000463533:p.Gln686* Q9BRD7 __UNKNOWN__ CCDS11638.1 . . . . . . . . . . C 38 6.698726 0.97772 . . ENSG00000173826 ENST00000314672;ENST00000456941 . . . 4.73 4.73 0.59995 . 0.256304 0.32204 N 0.006431 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.06236 T 0.91 . 17.687 0.88258 0.0:1.0:0.0:0.0 . . . . X 686;633 . ENSP00000318212:Q686X Q + 1 0 KCNH6 58973435 1.000000 0.71417 1.000000 0.80357 0.981000 0.71138 5.999000 0.70665 2.148000 0.66965 0.467000 0.42956 CAG KCNH6-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000443853.1 + ENST00000583023.1 Nonsense_Mutation SNP PCPG-TCGA-SR-A6MT-Normal-SM-5EMMZ MIR514A1 0 broad.mit.edu 37 X 146360813 146360813 + RNA SNP A A G rs148964961 by1000genomes TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chrX:146360813A>G ENST00000385133.1 - 0.0 49 NR_030238.1 microRNA 514a-1 ATCAAATTTAATTATACATGA 0.433 A 8.0 0.0048 0.01 0.01 1659.0 0.9984 , , 0.0004 0.01 0.005 0.8047 LOWCOV 0.0004 SNP 0 A 12,2613 0,11,1,1048,506 83.0 71.0 75.0 -1.4 0.0 X dbSNP_134 75.0 18,5470 0,3,15,1913,1641 no intergenic 0,14,16,2961,2147 GG,GA,G,AA,A 0.328,0.4571,0.3698 146360813.0 30,8083 1566.0 3572.0 5138.0 Xq27.3 2011-11-14 2011-11-14 2011-11-14 ENSG00000207868 ENSG00000207868 574516.0 574516.0 """ncRNAs / Micro RNAs""" 32148.0 non-coding RNA RNA, micro """microRNA 514-1""" MIRN514-1, MIR514-1 Standard NR_030238 NR_030238 Approved hsa-mir-514-1 uc022cgb.1 ENST00000385133.1: X.__UNKNOWN__:g.146360813A>G __UNKNOWN__ MIR514A1-201 KNOWN basic miRNA miRNA - ENST00000385133.1 RNA SNP PCPG-TCGA-SR-A6MT-Normal-SM-5EMMZ Unknown 0 bcgsc.ca 37 15 22567139 22567139 + RNA SNP C C T TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr15:22567139C>T MIR1268A (53859 upstream) : MIR4509-2 (108008 downstream) AAGAAACCACCGAAGAAAACG 0.453 0 SO:0001628 intergenic_variant 15.__UNKNOWN__:g.22567139C>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-SR-A6MT-Normal-SM-5EMMZ GNRH2 2797 ucsc.edu 37 20 3025436 3025436 + Missense_Mutation SNP C C A TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr20:3025436C>A ENST00000245983.2 + 3.0 317 c.266C>A c.(265-267)gCc>gAc p.A89D GNRH2_ENST00000380347.2_Missense_Mutation_p.A82D|GNRH2_ENST00000380346.2_Missense_Mutation_p.A81D|GNRH2_ENST00000359987.1_Missense_Mutation_p.A81D|GNRH2_ENST00000359100.2_Missense_Mutation_p.A82D NM_001501.1 NP_001492.1 O43555 GON2_HUMAN gonadotropin-releasing hormone 2 89.0 multicellular organismal development (GO:0007275)|signal transduction (GO:0007165) extracellular region (GO:0005576) hormone activity (GO:0005179) ovary(1)|upper_aerodigestive_tract(1) 2.0 AGGACCACGGCCCAGTGGTCC 0.647 0 35.0 33.0 34.0 20 3025436.0 2203.0 4300.0 6503.0 SO:0001583 missense AF036329 CCDS13040.1, CCDS13041.1, CCDS13042.1 20p13 2013-02-26 ENSG00000125787 ENSG00000125787 2797.0 2797.0 """Endogenous ligands""" 4420.0 protein-coding gene gene with protein product 602352 9419371, 12447356 Standard NM_001501 NM_178331 Approved uc002whr.1 O43555 OTTHUMG00000031723 ENST00000245983.2:c.266C>A 20.__UNKNOWN__:g.3025436C>A ENSP00000245983:p.Ala89Asp Q14C68|Q14C69|Q9BYN9|Q9BYP0 __UNKNOWN__ CCDS13040.1 . . . . . . . . . . C 14.82 2.648954 0.47362 . . ENSG00000125787 ENST00000245983;ENST00000359100;ENST00000359987;ENST00000380347;ENST00000380346 T;T;T;T;T 0.47528 0.85;0.84;0.84;0.84;0.84 4.06 2.01 0.26516 . 1.064700 0.07503 N 0.907609 T 0.39682 0.1087 L 0.27053 0.805 0.09310 N 1 P;P;P 0.52061 0.914;0.95;0.95 B;B;B 0.43728 0.424;0.429;0.429 T 0.33904 -0.9850 10 0.72032 D 0.01 . 10.807 0.46524 0.0:0.6141:0.3859:0.0 . 89;81;82 O43555;O43555-2;O43555-3 GON2_HUMAN;.;. D 89;82;81;82;81 ENSP00000245983:A89D;ENSP00000352003:A82D;ENSP00000353077:A81D;ENSP00000369705:A82D;ENSP00000369704:A81D ENSP00000245983:A89D A + 2 0 GNRH2 2973436 0.000000 0.05858 0.001000 0.08648 0.002000 0.02628 0.067000 0.14510 0.405000 0.25532 0.563000 0.77884 GCC GNRH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000077694.2 + ENST00000245983.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MT-Normal-SM-5EMMZ PAQR6 79957 ucsc.edu 37 1 156215369 156215369 + Missense_Mutation SNP C C T TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr1:156215369C>T ENST00000292291.5 - 5.0 627 c.469G>A c.(469-471)Gca>Aca p.A157T PAQR6_ENST00000368270.1_Missense_Mutation_p.A133T|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000540423.1_Missense_Mutation_p.A154T|PAQR6_ENST00000335852.1_Missense_Mutation_p.A51T|PAQR6_ENST00000356983.2_Missense_Mutation_p.A51T NM_001272104.1|NM_001272105.1|NM_198406.2 NP_001259033.1|NP_001259034.1|NP_940798.1 Q6TCH4 PAQR6_HUMAN progestin and adipoQ receptor family member VI 157.0 integral component of membrane (GO:0016021) receptor activity (GO:0004872) lung(4)|ovary(1) 5.0 Hepatocellular(266;0.158) GAGTTGAGTGCGGCGGCAGGC 0.687 GBM(16;219 398 12385 32425 38531) 0 31.0 35.0 34.0 1 156215369.0 2201.0 4296.0 6497.0 SO:0001583 missense AF455045 CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1 1q23 2008-02-05 ENSG00000160781 ENSG00000160781 79957.0 79957.0 30132.0 protein-coding gene gene with protein product 614579 12477932 Standard NM_024897 NM_024897 Approved FLJ22672 uc010phh.2 Q6TCH4 OTTHUMG00000017490 ENST00000292291.5:c.469G>A 1.__UNKNOWN__:g.156215369C>T ENSP00000292291:p.Ala157Thr B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621 __UNKNOWN__ CCDS1136.1 . . . . . . . . . . C 14.76 2.630223 0.46944 . . ENSG00000160781 ENST00000292291;ENST00000360733;ENST00000335852;ENST00000356983;ENST00000368270;ENST00000540423 T;T;T;T;T;T 0.35605 1.3;1.3;1.3;1.3;1.3;1.3 4.2 3.26 0.37387 . . . . . T 0.21801 0.0525 L 0.61036 1.89 0.30241 N 0.795024 P;P;P 0.42584 0.784;0.744;0.784 B;B;B 0.41332 0.121;0.354;0.121 T 0.02942 -1.1091 9 0.33141 T 0.24 . 11.2653 0.49106 0.0:0.9047:0.0:0.0953 . 154;51;157 B7Z9R9;Q6TCH4-2;Q6TCH4 .;.;PAQR6_HUMAN T 157;51;51;51;133;154 ENSP00000292291:A157T;ENSP00000353961:A51T;ENSP00000338330:A51T;ENSP00000349474:A51T;ENSP00000357253:A133T;ENSP00000443167:A154T ENSP00000292291:A157T A - 1 0 PAQR6 154481993 0.456000 0.25744 0.999000 0.59377 0.785000 0.44390 1.863000 0.39459 2.146000 0.66826 0.462000 0.41574 GCA PAQR6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000046297.2 - ENST00000292291.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MT-Normal-SM-5EMMZ STK16 8576 ucsc.edu 37 2 220111928 220111928 + Nonsense_Mutation SNP A A T TCGA-SR-A6MT-01A-11D-A35I-08 TCGA-SR-A6MT-10A-01D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq dcacf523-f3c2-4869-a508-495c63961c4b 035aa651-02f7-48c3-b98b-23baf22ea71d g.chr2:220111928A>T ENST00000409260.1 + 3.0 643 c.535A>T c.(535-537)Aga>Tga p.R179* STK16_ENST00000396738.2_Nonsense_Mutation_p.R134*|STK16_ENST00000409743.1_Nonsense_Mutation_p.R134*|STK16_ENST00000409638.3_Nonsense_Mutation_p.R134*|STK16_ENST00000486813.1_3'UTR|STK16_ENST00000409516.3_Intron O75716 STK16_HUMAN serine/threonine kinase 16 134.0 Activation loop.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777) Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020) ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) skin(1) 1.0 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGGATCTGCAGAGGCCTTGA 0.562 Pancreas(34;887 922 17165 36961 39622) 0 70.0 72.0 71.0 2 220111928.0 1940.0 4140.0 6080.0 SO:0001587 stop_gained AF060798 CCDS42822.1 2q35 2010-04-16 ENSG00000115661 ENSG00000115661 8576.0 8576.0 11394.0 protein-coding gene gene with protein product 604719 9712705 Standard NM_001008910 Approved PKL12, MPSK uc002vko.2 O75716 OTTHUMG00000154520 ENST00000409260.1:c.535A>T 2.__UNKNOWN__:g.220111928A>T ENSP00000387156:p.Arg179* A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78 __UNKNOWN__ . . . . . . . . . . A 20.4 3.984953 0.74474 . . ENSG00000115661 ENST00000409638;ENST00000396738;ENST00000409260;ENST00000409743 . . . 5.69 3.14 0.36123 . 0.416552 0.28606 N 0.014746 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.24483 T 0.36 -2.83 6.6542 0.22979 0.5714:0.2172:0.0:0.2113 . . . . X 134;134;179;134 . ENSP00000379964:R134X R + 1 2 STK16 219820172 0.978000 0.34361 1.000000 0.80357 0.949000 0.60115 0.256000 0.18351 0.944000 0.37579 0.533000 0.62120 AGA STK16-007 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000335685.1 + ENST00000409260.1 Nonsense_Mutation SNP PCPG-TCGA-SR-A6MT-Normal-SM-5EMMZ NOTCH4 4855 broad.mit.edu 37 6 32163789 32163789 + Missense_Mutation SNP A A G TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr6:32163789A>G ENST00000375023.3 - 30.0 5575 c.5437T>C c.(5437-5439)Tgg>Cgg p.W1813R NOTCH4_ENST00000443903.2_3'UTR NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1813.0 cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872) 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) 100.0 AGCAGATCCCAGTGGTTACGT 0.716 0 10.0 13.0 12.0 6 32163789.0 1392.0 2641.0 4033.0 SO:0001583 missense CCDS34420.1 6p21.3 2013-01-10 2010-06-24 ENSG00000204301 ENSG00000204301 4855.0 4855.0 """Ankyrin repeat domain containing""" 7884.0 protein-coding gene gene with protein product 164951 """Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)""" INT3 7835890 Standard NM_004557 Approved uc003obb.3 Q99466 OTTHUMG00000031044 ENST00000375023.3:c.5437T>C 6.__UNKNOWN__:g.32163789A>G ENSP00000364163:p.Trp1813Arg B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0 __UNKNOWN__ CCDS34420.1 . . . . . . . . . . A 17.14 3.314704 0.60524 . . ENSG00000204301 ENST00000375023 T 0.70399 -0.48 4.71 4.71 0.59529 Ankyrin repeat-containing domain (3); 0.000000 0.40222 N 0.001142 T 0.56775 0.2008 N 0.17082 0.46 0.80722 D 1 P;D 0.71674 0.93;0.998 P;D 0.66084 0.671;0.941 T 0.61217 -0.7107 10 0.33940 T 0.23 . 7.1325 0.25510 0.9006:0.0:0.0994:0.0 . 1813;1812 Q99466;B0S882 NOTC4_HUMAN;. R 1813 ENSP00000364163:W1813R ENSP00000364163:W1813R W - 1 0 NOTCH4 32271767 1.000000 0.71417 1.000000 0.80357 0.735000 0.41995 5.360000 0.66086 2.099000 0.63709 0.460000 0.39030 TGG NOTCH4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076045.2 - ENST00000375023.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MU-Normal-SM-5EMMU HECW2 57520 broad.mit.edu 37 2 197184340 197184340 + Missense_Mutation SNP T T C TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr2:197184340T>C ENST00000409111.1 - 7.0 1220 c.206A>G c.(205-207)cAc>cGc p.H69R HECW2_ENST00000260983.3_Missense_Mutation_p.H425R Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 425.0 protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|nucleus (GO:0005634) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) p.H425P(1) 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) 113.0 GTGGCCATTGTGTTCGATAGC 0.507 1 Substitution - Missense(1) large_intestine(1) 68.0 70.0 69.0 2 197184340.0 2203.0 4300.0 6503.0 SO:0001583 missense AL390186 CCDS33354.1 2q32.3 2004-12-13 ENSG00000138411 ENSG00000138411 57520.0 57520.0 29853.0 protein-coding gene gene with protein product 10718198, 12890487 Standard NM_020760 NM_020760 Approved KIAA1301, NEDL2 uc002utm.1 Q9P2P5 OTTHUMG00000154435 ENST00000409111.1:c.206A>G 2.__UNKNOWN__:g.197184340T>C ENSP00000386775:p.His69Arg B8ZZB4|Q17RT5|Q68DF8|Q9NPS9 __UNKNOWN__ . . . . . . . . . . T 7.528 0.658035 0.14645 . . ENSG00000138411 ENST00000409111;ENST00000260983 T;T 0.30182 1.54;1.57 5.54 5.54 0.83059 . 1.182270 0.05616 N 0.578971 T 0.20820 0.0501 N 0.08118 0 0.39516 D 0.968433 B 0.24186 0.099 B 0.19946 0.027 T 0.02713 -1.1120 10 0.19147 T 0.46 . 14.3964 0.67013 0.0:0.0:0.0:1.0 . 425 Q9P2P5 HECW2_HUMAN R 69;425 ENSP00000386775:H69R;ENSP00000260983:H425R ENSP00000260983:H425R H - 2 0 HECW2 196892585 1.000000 0.71417 0.812000 0.32479 0.030000 0.12068 4.961000 0.63681 2.321000 0.78463 0.528000 0.53228 CAC HECW2-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000335314.2 - ENST00000409111.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MU-Normal-SM-5EMMU MLTK 0 broad.mit.edu 37 2 174085985 174085985 + Silent SNP C C T TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr2:174085985C>T ENST00000375213.3 + 11.0 1065 MLTK_ENST00000338983.3_Silent_p.N365N|MLTK_ENST00000539448.1_Silent_p.N365N|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000431503.2_Silent_p.N264N|MLK7-AS1_ENST00000422703.1_RNA NM_016653.2 NP_057737.2 Q9NYL2 MLTK_HUMAN activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674) CAACAAGTAACGGGGAGGGCC 0.478 0 125.0 128.0 127.0 2 174085985.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant ENST00000375213.3:c.987+4007C>T 2.__UNKNOWN__:g.174085985C>T B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9 __UNKNOWN__ CCDS42777.1 MLTK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255401.1 + ENST00000375213.3 Intron SNP PCPG-TCGA-SR-A6MU-Normal-SM-5EMMU MAST4 375449 broad.mit.edu 37 5 66461625 66461625 + Missense_Mutation SNP G G T TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr5:66461625G>T ENST00000403625.2 + 29.0 6913 c.6618G>T c.(6616-6618)aaG>aaT p.K2206N MAST4_ENST00000261569.7_Missense_Mutation_p.K2012N|MAST4_ENST00000405643.1_Missense_Mutation_p.K2027N|MAST4_ENST00000404260.3_Missense_Mutation_p.K2209N|MAST4_ENST00000403666.1_Missense_Mutation_p.K2017N NM_001164664.1 NP_001158136.1 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 2209.0 Pro-rich. cytoplasm (GO:0005737) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674) breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13.0 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) CAAAGACTAAGCACCCCGACC 0.652 0 12.0 15.0 14.0 5 66461625.0 1857.0 4097.0 5954.0 SO:0001583 missense AY830839 CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1 5q12.3 2007-06-20 ENSG00000069020 ENSG00000069020 375449.0 375449.0 19037.0 protein-coding gene gene with protein product 9205841 Standard NM_198828 Approved KIAA0303 uc021xzk.1 O15021 OTTHUMG00000152471 ENST00000403625.2:c.6618G>T 5.__UNKNOWN__:g.66461625G>T ENSP00000385727:p.Lys2206Asn A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3 __UNKNOWN__ CCDS54861.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 11.77|11.77 1.737863|1.737863 0.30774|0.30774 .|. .|. ENSG00000069020|ENSG00000069020 ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569 .|T;T;T;T;T .|0.73575 .|-0.74;-0.74;-0.76;-0.76;-0.73 4.86|4.86 1.88|1.88 0.25563|0.25563 .|. .|0.245761 .|0.29126 .|N .|0.013068 T|T 0.64159|0.64159 0.2573|0.2573 L|L 0.34521|0.34521 1.04|1.04 0.09310|0.09310 N|N 1|1 .|P;P .|0.44429 .|0.745;0.835 .|B;P .|0.44561 .|0.265;0.453 T|T 0.58036|0.58036 -0.7707|-0.7707 5|10 .|0.72032 .|D .|0.01 -16.5188|-16.5188 8.1758|8.1758 0.31281|0.31281 0.3441:0.0:0.6559:0.0|0.3441:0.0:0.6559:0.0 .|. .|2209;2017 .|O15021;O15021-3 .|MAST4_HUMAN;. S|N 1263|2209;2206;2017;2027;2027;2012 .|ENSP00000385048:K2209N;ENSP00000385727:K2206N;ENSP00000384313:K2017N;ENSP00000384099:K2027N;ENSP00000261569:K2012N .|ENSP00000261569:K2012N A|K +|+ 1|3 0|2 MAST4|MAST4 66497381|66497381 0.982000|0.982000 0.34865|0.34865 0.909000|0.909000 0.35828|0.35828 0.042000|0.042000 0.13812|0.13812 1.531000|1.531000 0.36018|0.36018 0.652000|0.652000 0.30806|0.30806 0.561000|0.561000 0.74099|0.74099 GCA|AAG MAST4-001 NOVEL not_organism_supported|basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000326324.2 + ENST00000403625.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MU-Normal-SM-5EMMU CPXM1 56265 broad.mit.edu 37 20 2775281 2775281 + Missense_Mutation SNP C C T TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr20:2775281C>T ENST00000380605.2 - 13.0 1929 c.1865G>A c.(1864-1866)cGc>cAc p.R622H NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 622.0 cell adhesion (GO:0007155) extracellular space (GO:0005615) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43.0 AATGCCCATGCGCACCTGtgt 0.552 0 148.0 94.0 112.0 20 2775281.0 2203.0 4300.0 6503.0 SO:0001583 missense AL035460 CCDS13033.1 20p13 2012-02-10 2006-08-24 2006-08-24 ENSG00000088882 ENSG00000088882 56265.0 56265.0 15771.0 protein-coding gene gene with protein product """carboxypeptidase-like protein X1""" 609555 """carboxypeptidase X (M14 family)""" CPXM 14702039 Standard NM_019609 NM_019609 Approved CPX-1, CPX1 uc002wgu.3 Q96SM3 OTTHUMG00000031706 ENST00000380605.2:c.1865G>A 20.__UNKNOWN__:g.2775281C>T ENSP00000369979:p.Arg622His Q6P4G8|Q6UW65|Q9NUB5 __UNKNOWN__ CCDS13033.1 . . . . . . . . . . C 8.601 0.886828 0.17540 . . ENSG00000088882 ENST00000380605;ENST00000421947 T 0.03065 4.06 5.53 5.53 0.82687 Peptidase M14, carboxypeptidase A (1); 0.051839 0.85682 D 0.000000 T 0.00875 0.0029 N 0.00166 -1.94 0.43745 D 0.996249 B 0.19706 0.038 B 0.08055 0.003 T 0.48885 -0.8995 10 0.02654 T 1 -23.4047 10.2233 0.43209 0.0:0.9129:0.0:0.0871 . 622 Q96SM3 CPXM1_HUMAN H 622;318 ENSP00000369979:R622H ENSP00000369979:R622H R - 2 0 CPXM1 2723281 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 3.171000 0.50824 2.882000 0.98803 0.655000 0.94253 CGC CPXM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077643.2 - ENST00000380605.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MU-Normal-SM-5EMMU ZEB1 6935 broad.mit.edu 37 10 31791358 31791358 + Silent SNP C C T TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr10:31791358C>T ENST00000320985.10 + 4.0 512 c.402C>T c.(400-402)gaC>gaT p.D134D ZEB1_ENST00000361642.5_Silent_p.D135D|ZEB1_ENST00000560721.2_Silent_p.D114D|ZEB1_ENST00000446923.2_Silent_p.D118D|ZEB1_ENST00000542815.3_Silent_p.D67D|ZEB1_ENST00000559858.1_3'UTR P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 134.0 cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) 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) 77.0 Prostate(175;0.0156) AACAACAAGACACTGCTGTCA 0.408 Ovarian(40;423 959 14296 36701 49589) 0 148.0 140.0 142.0 10 31791358.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK091478 CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1 10p11.22 2014-02-14 2007-02-15 2007-02-15 ENSG00000148516 ENSG00000148516 6935.0 6935.0 """Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class""" 11642.0 protein-coding gene gene with protein product 189909 """transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3""" TCF8, PPCD3 1427828, 1840704, 15384081, 16252232 Standard NM_030751 NM_001128128 Approved BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6 uc001ivu.4 P37275 OTTHUMG00000017907 ENST00000320985.10:c.402C>T 10.__UNKNOWN__:g.31791358C>T B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68 __UNKNOWN__ CCDS7169.1 . . . . . . . . . . C 10.11 1.261691 0.23051 . . ENSG00000148516 ENST00000543514 . . . 5.82 0.811 0.18739 . . . . . T 0.63710 0.2534 . . . 0.80722 D 1 . . . . . . T 0.64901 -0.6298 5 0.87932 D 0 -22.9099 9.1713 0.37083 0.0:0.5329:0.0:0.4671 . . . . I 26 . ENSP00000443742:T26I T + 2 0 ZEB1 31831364 0.998000 0.40836 1.000000 0.80357 0.997000 0.91878 0.522000 0.22909 0.374000 0.24650 0.650000 0.86243 ACA ZEB1-018 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000419083.2 + ENST00000320985.10 Silent SNP PCPG-TCGA-SR-A6MU-Normal-SM-5EMMU NSUN7 79730 broad.mit.edu 37 4 40792724 40792724 + Missense_Mutation SNP T T C TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr4:40792724T>C ENST00000316607.5 + 8.0 1609 c.1142T>C c.(1141-1143)gTt>gCt p.V381A NSUN7_ENST00000381782.2_Missense_Mutation_p.V381A Q8NE18 NSUN7_HUMAN NOP2/Sun domain family, member 7 381.0 methyltransferase activity (GO:0008168)|RNA binding (GO:0003723) NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12.0 GGACTGGGTGTTAGTAATCCA 0.269 0 74.0 80.0 78.0 4 40792724.0 2203.0 4296.0 6499.0 SO:0001583 missense BC036568 CCDS3461.2 4p14 2013-10-11 2009-11-23 ENSG00000179299 ENSG00000179299 79730.0 79730.0 """NOP2/Sun domain containing""" 25857.0 protein-coding gene gene with protein product """NOL1/NOP2/Sun domain family, member 7""" 17442852 Standard NM_024677 NM_024677 Approved FLJ14001 uc003gvj.4 Q8NE18 OTTHUMG00000128597 ENST00000316607.5:c.1142T>C 4.__UNKNOWN__:g.40792724T>C ENSP00000319127:p.Val381Ala C9JI19|Q8N9K8|Q9H815 __UNKNOWN__ . . . . . . . . . . T 16.43 3.120815 0.56613 . . ENSG00000179299 ENST00000381782;ENST00000316607 T;T 0.45668 0.89;0.89 5.86 5.86 0.93980 . 0.371868 0.28262 N 0.015995 T 0.48169 0.1485 M 0.77313 2.365 0.40631 D 0.981857 P;B 0.39696 0.683;0.204 B;B 0.38755 0.281;0.093 T 0.54529 -0.8280 10 0.48119 T 0.1 -12.4423 15.2231 0.73330 0.0:0.0:0.0:1.0 . 381;381 Q8NE18;Q8NE18-2 NSUN7_HUMAN;. A 381 ENSP00000371201:V381A;ENSP00000319127:V381A ENSP00000319127:V381A V + 2 0 NSUN7 40487481 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 3.673000 0.54591 2.238000 0.73509 0.477000 0.44152 GTT NSUN7-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000250455.2 + ENST00000316607.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MU-Normal-SM-5EMMU AHCTF1 25909 broad.mit.edu 37 1 247067288 247067288 + Missense_Mutation SNP T T A TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr1:247067288T>A ENST00000366508.1 - 7.0 1170 c.1034A>T c.(1033-1035)aAt>aTt p.N345I AHCTF1_ENST00000391829.2_Missense_Mutation_p.N310I|AHCTF1_ENST00000326225.3_Missense_Mutation_p.N319I Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 310.0 Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}. cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74.0 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) ACACTTTCTATTACCAAAGGC 0.328 Colon(145;197 1800 4745 15099 26333) 0 80.0 77.0 78.0 1 247067288.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS1629.1, CCDS1629.2 1q44 2008-09-09 ENSG00000153207 ENSG00000153207 25909.0 25909.0 24618.0 protein-coding gene gene with protein product """ELYS transcription factor like protein TMBS62""" 610853 11952839 Standard NM_015446 NM_015446 Approved ELYS uc001ibv.2 Q8WYP5 OTTHUMG00000040706 ENST00000366508.1:c.1034A>T 1.__UNKNOWN__:g.247067288T>A ENSP00000355464:p.Asn345Ile A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6 __UNKNOWN__ . . . . . . . . . . T 18.11 3.551690 0.65311 . . ENSG00000153207 ENST00000366508;ENST00000326225;ENST00000391829 T;T;T 0.22539 1.95;1.95;1.95 5.37 5.37 0.77165 . 0.101870 0.64402 D 0.000004 T 0.13030 0.0316 N 0.08118 0 0.36361 D 0.86073 B;B 0.20052 0.041;0.031 B;B 0.09377 0.004;0.002 T 0.10132 -1.0643 10 0.66056 D 0.02 -16.6712 15.3675 0.74535 0.0:0.0:0.0:1.0 . 345;310 Q8WYP5-2;Q8WYP5 .;ELYS_HUMAN I 345;319;310 ENSP00000355464:N345I;ENSP00000355465:N319I;ENSP00000375705:N310I ENSP00000355465:N319I N - 2 0 AHCTF1 245133911 1.000000 0.71417 1.000000 0.80357 0.961000 0.63080 7.503000 0.81632 2.027000 0.59764 0.455000 0.32223 AAT AHCTF1-001 NOVEL basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000097817.1 - ENST00000366508.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MU-Normal-SM-5EMMU SNORD3A 0 broad.mit.edu 37 17 19091465 19091465 + RNA SNP G G C TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr17:19091465G>C ENST00000365494.1 + 0.0 137 small nucleolar RNA, C/D box 3A gcgttgcttggctgcaactgc 0.517 0 24.0 15.0 18.0 17 19091465.0 873.0 1963.0 2836.0 17p11.2 2013-09-05 ENSG00000202364 ENSG00000263934 780851.0 780851.0 33189.0 non-coding RNA RNA, small nucleolar 180710 9365252 Standard NR_006880 NR_006880 Approved U3 ENST00000365494.1: 17.__UNKNOWN__:g.19091465G>C __UNKNOWN__ SNORD3A-201 KNOWN basic snoRNA lincRNA + ENST00000365494.1 lincRNA SNP PCPG-TCGA-SR-A6MU-Normal-SM-5EMMU HYDIN 54768 broad.mit.edu 37 16 71103196 71103196 + Missense_Mutation SNP G G A rs140028548 TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr16:71103196G>A ENST00000393567.2 - 14.0 2098 c.1948C>T c.(1948-1950)Cgc>Tgc p.R650C HYDIN_ENST00000321489.5_Missense_Mutation_p.R650C|HYDIN_ENST00000288168.10_Missense_Mutation_p.R667C|HYDIN_ENST00000393550.2_Missense_Mutation_p.R665C|HYDIN_ENST00000448089.2_Missense_Mutation_p.R650C|HYDIN_ENST00000541601.1_Missense_Mutation_p.R667C|HYDIN_ENST00000448691.1_Missense_Mutation_p.R650C|HYDIN_ENST00000538248.1_Missense_Mutation_p.R677C NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 650.0 cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591) cell projection (GO:0042995) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43.0 Ovarian(137;0.0654) CCCTGGGGGCGAATGGTGCCA 0.488 0 G CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG 0,4394 0,0,2197 58.0 61.0 60.0 2029,1999,1948,1948 5.3 1.0 16 dbSNP_134 60.0 1,8593 1.2+/-3.3 0,1,4296 no missense,missense,missense,missense HYDIN NM_001198542.1,NM_001198543.1,NM_017558.3,NM_032821.2 180,180,180,180 0,1,6493 AA,AG,GG 0.0116,0.0,0.0077 probably-damaging,probably-damaging,probably-damaging,probably-damaging 677/951,667/941,650/1018,650/5121 71103196.0 1,12987 2197.0 4297.0 6494.0 SO:0001583 missense AK074472 CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1 16q22.2 2014-02-05 2012-01-06 ENSG00000157423 ENSG00000157423 54768.0 54768.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 19368.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 31""" 610812 """hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)""" 12719380, 23022101 Standard NM_001198542 Approved DKFZp434D0513, KIAA1864, PPP1R31, CILD5 uc031qwy.1 Q4G0P3 OTTHUMG00000137584 ENST00000393567.2:c.1948C>T 16.__UNKNOWN__:g.71103196G>A ENSP00000377197:p.Arg650Cys A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5 __UNKNOWN__ CCDS59269.1 . . . . . . . . . . G 24.1 4.493998 0.84962 0.0 1.16E-4 ENSG00000157423 ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550 T;T;T;T;T;T;T;T 0.43294 0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95 5.27 5.27 0.74061 . 0.000000 0.33792 U 0.004547 T 0.66799 0.2826 M 0.77616 2.38 0.58432 D 0.999999 P;P;D;P;D 0.89917 0.892;0.892;1.0;0.892;1.0 P;P;D;B;D 0.91635 0.474;0.474;0.94;0.405;0.999 T 0.69371 -0.5163 10 0.54805 T 0.06 . 17.7221 0.88355 0.0:0.0:1.0:0.0 . 677;667;667;650;650 B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23 .;.;.;.;. C 650;650;650;650;650;677;667;667;665 ENSP00000377197:R650C;ENSP00000398544:R650C;ENSP00000394826:R650C;ENSP00000314736:R650C;ENSP00000444970:R677C;ENSP00000437341:R667C;ENSP00000288168:R667C;ENSP00000377181:R665C ENSP00000288168:R667C R - 1 0 HYDIN 69660697 1.000000 0.71417 0.999000 0.59377 0.934000 0.57294 7.091000 0.76923 2.474000 0.83562 0.603000 0.83216 CGC HYDIN-001 PUTATIVE not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000398624.3 - ENST00000393567.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MU-Normal-SM-5EMMU FAM187B 148109 broad.mit.edu 37 19 35718939 35718939 + Silent SNP G G A rs13382163 TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr19:35718939G>A ENST00000324675.3 - 1.0 693 c.645C>T c.(643-645)taC>taT p.Y215Y NM_152481.1 NP_689694.1 Q17R55 F187B_HUMAN family with sequence similarity 187, member B 215.0 integral component of membrane (GO:0016021) p.Y215Y(1) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 9.0 CAAAAATGACGTAATCCACCC 0.537 1 Substitution - coding silent(1) large_intestine(1) 99.0 82.0 88.0 19 35718939.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK098526 CCDS12448.1 19q13.12 2008-10-16 2008-10-16 2008-10-16 ENSG00000177558 ENSG00000177558 148109.0 148109.0 26366.0 protein-coding gene gene with protein product """transmembrane protein 162""" TMEM162 Standard NM_152481 NM_152481 Approved FLJ25660 uc002nyk.1 Q17R55 OTTHUMG00000164450 ENST00000324675.3:c.645C>T 19.__UNKNOWN__:g.35718939G>A Q8N7G6 __UNKNOWN__ CCDS12448.1 FAM187B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378854.1 - ENST00000324675.3 Silent SNP PCPG-TCGA-SR-A6MU-Normal-SM-5EMMU FLRT2 23768 broad.mit.edu 37 14 86089608 86089608 + Missense_Mutation SNP C C T TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr14:86089608C>T ENST00000330753.4 + 2.0 2517 c.1750C>T c.(1750-1752)Cgg>Tgg p.R584W FLRT2_ENST00000554746.1_Missense_Mutation_p.R584W NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 584.0 axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578) chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73.0 BRCA - Breast invasive adenocarcinoma(234;0.0319) CCGGGGCCGGCGGAAAGATGA 0.493 0 85.0 93.0 90.0 14 86089608.0 2203.0 4300.0 6503.0 SO:0001583 missense AF169676 CCDS9877.1 14q24-q32 2013-02-11 ENSG00000185070 23768.0 23768.0 """Fibronectin type III domain containing""" 3761.0 protein-coding gene gene with protein product 604807 10644439, 16872596 Standard XM_005267490 Approved uc001xvr.3 O43155 ENST00000330753.4:c.1750C>T 14.__UNKNOWN__:g.86089608C>T ENSP00000332879:p.Arg584Trp A0AV84|B7ZLP3 __UNKNOWN__ CCDS9877.1 . . . . . . . . . . C 18.61 3.662086 0.67700 . . ENSG00000185070 ENST00000330753;ENST00000554746;ENST00000535800 T;T 0.61040 0.14;0.14 6.17 6.17 0.99709 . 0.000000 0.85682 D 0.000000 T 0.67636 0.2914 L 0.27053 0.805 0.80722 D 1 D 0.89917 1.0 D 0.68483 0.958 T 0.68853 -0.5299 10 0.87932 D 0 -20.5728 20.8794 0.99867 0.0:1.0:0.0:0.0 . 584 O43155 FLRT2_HUMAN W 584;584;237 ENSP00000332879:R584W;ENSP00000451050:R584W ENSP00000332879:R584W R + 1 2 FLRT2 85159361 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 5.013000 0.64023 2.941000 0.99782 0.655000 0.94253 CGG FLRT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000413193.1 + ENST00000330753.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MU-Normal-SM-5EMMU RP11-20I23.1 527 broad.mit.edu 37 16 2569716 2569716 + Silent SNP C C T TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr16:2569716C>T ENST00000564543.1 + 0.0 1441 ATP6V0C_ENST00000330398.4_Silent_p.L146L|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000564973.1_Silent_p.L103L|ATP6V0C_ENST00000565223.1_Silent_p.L103L TCTACGGTCTCATCGTCGCCC 0.597 0 70.0 68.0 68.0 16 2569716.0 2198.0 4300.0 6498.0 SO:0001624 3_prime_UTR_variant ENST00000564543.1:c.*193C>T 16.__UNKNOWN__:g.2569716C>T __UNKNOWN__ RP11-20I23.1-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf protein_coding protein_coding OTTHUMT00000435643.1 + ENST00000564543.1 3'UTR SNP PCPG-TCGA-SR-A6MU-Normal-SM-5EMMU TCF19 6941 broad.mit.edu 37 6 31129467 31129467 + Missense_Mutation SNP G G A TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr6:31129467G>A ENST00000376257.3 + 3.0 1236 c.482G>A c.(481-483)cGg>cAg p.R161Q TCF19_ENST00000496421.1_Intron|TCF19_ENST00000376255.4_Missense_Mutation_p.R161Q NM_007109.2 NP_009040.2 Q9Y242 TCF19_HUMAN transcription factor 19 161.0 cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9.0 GCTCCACAGCGGCCTCTCAGC 0.647 0 60.0 69.0 66.0 6 31129467.0 1234.0 2525.0 3759.0 SO:0001583 missense U25826 CCDS43446.1 6p21.3 2013-01-28 2009-02-05 ENSG00000137310 ENSG00000137310 6941.0 6941.0 """Zinc fingers, PHD-type""" 11629.0 protein-coding gene gene with protein product 600912 1868030, 8595903 Standard NM_007109 NM_001077511 Approved SC1 uc003nss.3 Q9Y242 OTTHUMG00000031274 ENST00000376257.3:c.482G>A 6.__UNKNOWN__:g.31129467G>A ENSP00000365433:p.Arg161Gln A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7 __UNKNOWN__ CCDS43446.1 . . . . . . . . . . G 18.19 3.569243 0.65765 . . ENSG00000137310 ENST00000376257;ENST00000376255;ENST00000542218 T;T;T 0.25414 1.87;1.87;1.8 5.71 4.83 0.62350 . 0.139336 0.51477 D 0.000099 T 0.18551 0.0445 M 0.62723 1.935 0.29896 N 0.824791 D 0.57899 0.981 P 0.47603 0.551 T 0.04203 -1.0969 10 0.30854 T 0.27 -19.8026 11.7129 0.51635 0.0848:0.0:0.9152:0.0 . 161 Q9Y242 TCF19_HUMAN Q 161;161;81 ENSP00000365433:R161Q;ENSP00000365431:R161Q;ENSP00000439397:R81Q ENSP00000365431:R161Q R + 2 0 TCF19 31237446 0.962000 0.33011 0.997000 0.53966 0.665000 0.39181 2.079000 0.41577 2.695000 0.91970 0.549000 0.68633 CGG TCF19-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076595.2 + ENST00000376257.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MU-Normal-SM-5EMMU GRIK1 2897 broad.mit.edu 37 21 30927396 30927396 + Missense_Mutation SNP G G A TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr21:30927396G>A ENST00000399907.1 - 16.0 2995 c.2584C>T c.(2584-2586)Cgg>Tgg p.R862W GRIK1_ENST00000399909.1_Missense_Mutation_p.R847W|GRIK1_ENST00000399914.1_Missense_Mutation_p.R847W|GRIK1_ENST00000535441.1_Missense_Mutation_p.R864W|GRIK1_ENST00000399913.1_Missense_Mutation_p.R862W|GRIK1_ENST00000309434.7_Missense_Mutation_p.R864W|GRIK1_ENST00000389124.2_Missense_Mutation_p.R862W|GRIK1_ENST00000389125.3_Missense_Mutation_p.R847W|GRIK1_ENST00000327783.4_Missense_Mutation_p.R862W NM_000830.3 NP_000821.1 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 862.0 R -> Q. {ECO:0000269|PubMed:11702055}. adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810) cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734) extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277) p.R847W(1) 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) 45.0 Topiramate(DB00273) TTATTCTTCCGTGATTTGTAT 0.393 1 Substitution - Missense(1) large_intestine(1) 66.0 66.0 66.0 21 30927396.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS33530.1, CCDS42913.1 21q22 2012-08-29 ENSG00000171189 ENSG00000171189 2897.0 2897.0 """Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors""" 4579.0 protein-coding gene gene with protein product 138245 GLUR5 8468067 Standard XM_005260942 Approved GluK1 uc002yno.1 P39086 OTTHUMG00000078879 ENST00000399907.1:c.2584C>T 21.__UNKNOWN__:g.30927396G>A ENSP00000382791:p.Arg862Trp Q13001|Q86SU9 __UNKNOWN__ CCDS42913.1 . . . . . . . . . . G 19.07 3.756531 0.69648 . . ENSG00000171189 ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434 T;T;T;T;T;T;T;T;T 0.16324 2.35;2.42;2.4;2.36;2.41;2.35;2.36;2.4;2.38 5.1 4.16 0.48862 . 0.096519 0.64402 D 0.000003 T 0.19406 0.0466 N 0.08118 0 0.58432 D 0.999998 D;D;D;D 0.76494 0.998;0.999;0.998;0.999 P;P;D;D 0.66497 0.88;0.88;0.915;0.944 T 0.13072 -1.0523 10 0.87932 D 0 . 10.889 0.46984 0.0:0.0:0.51:0.49 . 847;862;862;847 E7EPY9;E9PD61;P39086;P39086-2 .;.;GRIK1_HUMAN;. W 862;847;862;847;864;723;862;862;847;864 ENSP00000327687:R862W;ENSP00000373777:R847W;ENSP00000382797:R862W;ENSP00000382798:R847W;ENSP00000446326:R864W;ENSP00000373776:R862W;ENSP00000382791:R862W;ENSP00000382793:R847W;ENSP00000311646:R864W ENSP00000311646:R864W R - 1 2 GRIK1 29849267 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 2.189000 0.42621 1.418000 0.47098 0.650000 0.86243 CGG GRIK1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000171979.1 - ENST00000399907.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MU-Normal-SM-5EMMU C6orf58 352999 broad.mit.edu 37 6 127911362 127911362 + Nonsense_Mutation SNP C C T TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr6:127911362C>T ENST00000329722.7 + 5.0 817 c.805C>T c.(805-807)Cga>Tga p.R269* NM_001010905.1 NP_001010905.1 Q6P5S2 CF058_HUMAN chromosome 6 open reading frame 58 269.0 extracellular vesicular exosome (GO:0070062) kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15.0 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) CATGCCACCACGAATTCTTCT 0.403 0 172.0 169.0 170.0 6 127911362.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained BC062712 CCDS34533.1 6q22.33 2011-12-13 ENSG00000184530 ENSG00000184530 352999.0 352999.0 20960.0 protein-coding gene gene with protein product Standard NM_001010905 NM_001010905 Approved uc003qbh.4 Q6P5S2 OTTHUMG00000015530 ENST00000329722.7:c.805C>T 6.__UNKNOWN__:g.127911362C>T ENSP00000328069:p.Arg269* B4E1I0|Q5VUP2 __UNKNOWN__ CCDS34533.1 . . . . . . . . . . C 11.33 1.605890 0.28623 . . ENSG00000184530 ENST00000329722 . . . 5.01 -0.908 0.10517 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -18.0099 7.3022 0.26426 0.602:0.3096:0.0:0.0884 . . . . X 269 . ENSP00000328069:R269X R + 1 2 C6orf58 127953055 0.005000 0.15991 0.139000 0.22197 0.049000 0.14656 -0.196000 0.09532 -0.026000 0.13895 0.655000 0.94253 CGA C6orf58-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042152.1 + ENST00000329722.7 Nonsense_Mutation SNP PCPG-TCGA-SR-A6MU-Normal-SM-5EMMU ABCA9 10350 broad.mit.edu 37 17 66979978 66979978 + Silent SNP G G A TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr17:66979978G>A ENST00000340001.4 - 36.0 4723 c.4512C>T c.(4510-4512)tcC>tcT p.S1504S ABCA9_ENST00000453985.2_Silent_p.S1466S|ABCA9_ENST00000370732.2_3'UTR NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1504.0 ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}. transport (GO:0006810) integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|ATPase activity (GO:0016887) 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) 91.0 Breast(10;1.47e-12) GGTGTTGGATGGAACCAATAC 0.468 0 98.0 88.0 91.0 17 66979978.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF423307 CCDS11681.1 17q24 2012-03-14 ENSG00000154258 ENSG00000154258 10350.0 10350.0 """ATP binding cassette transporters / subfamily A""" 39.0 protein-coding gene gene with protein product 612507 Standard NM_172386 XM_005256934 Approved EST640918 uc002jhu.3 Q8IUA7 OTTHUMG00000140371 ENST00000340001.4:c.4512C>T 17.__UNKNOWN__:g.66979978G>A Q6P655|Q8N2S4|Q8WWZ5|Q96MD8 __UNKNOWN__ CCDS11681.1 ABCA9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000277072.2 - ENST00000340001.4 Silent SNP PCPG-TCGA-SR-A6MU-Normal-SM-5EMMU UBASH3B 84959 bcgsc.ca 37 11 122669717 122669717 + Silent SNP T T C TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr11:122669717T>C ENST00000284273.5 + 10.0 1800 c.1425T>C c.(1423-1425)gtT>gtC p.V475V NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B 475.0 Protein tyrosine phosphatase. {ECO:0000250}. negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279) cytoplasm (GO:0005737)|nucleus (GO:0005634) protein tyrosine phosphatase activity (GO:0004725) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26.0 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) TTCGCTGCGTTCAGACTGCAC 0.418 0 124.0 112.0 116.0 11 122669717.0 2202.0 4299.0 6501.0 SO:0001819 synonymous_variant AB075839 CCDS31694.1 11q24.1 2010-04-28 2010-04-28 ENSG00000154127 ENSG00000154127 84959.0 84959.0 29884.0 protein-coding gene gene with protein product """SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate""" 609201 11853319, 12370296 Standard NM_032873 NM_032873 Approved KIAA1959, STS-1 uc001pyi.4 Q8TF42 OTTHUMG00000166025 ENST00000284273.5:c.1425T>C 11.__UNKNOWN__:g.122669717T>C Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2 __UNKNOWN__ CCDS31694.1 UBASH3B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387499.1 + ENST00000284273.5 Silent SNP PCPG-TCGA-SR-A6MU-Normal-SM-5EMMU MARCO 8685 ucsc.edu 37 2 119732115 119732115 + Missense_Mutation SNP G G A TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr2:119732115G>A ENST00000327097.4 + 6.0 722 c.587G>A c.(586-588)gGc>gAc p.G196D MARCO_ENST00000541757.1_Missense_Mutation_p.G118D NM_006770.3 NP_006761.1 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 196.0 Collagen-like. apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221) collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70.0 GGACCCCAAGGCCCACCGGGA 0.552 GBM(8;18 374 7467 11269 32796) 0 66.0 70.0 69.0 2 119732115.0 2203.0 4300.0 6503.0 SO:0001583 missense AF035819 CCDS2124.1 2q14.2 2011-10-11 ENSG00000019169 ENSG00000019169 8685.0 8685.0 6895.0 protein-coding gene gene with protein product """scavenger receptor class A, member 2""" 604870 9468508, 7867067, 10331948 Standard NM_006770 NM_006770 Approved SCARA2 uc002tln.1 Q9UEW3 OTTHUMG00000131400 ENST00000327097.4:c.587G>A 2.__UNKNOWN__:g.119732115G>A ENSP00000318916:p.Gly196Asp B4DW79|Q9Y5S3 __UNKNOWN__ CCDS2124.1 . . . . . . . . . . G 11.96 1.795845 0.31777 . . ENSG00000019169 ENST00000327097;ENST00000410021;ENST00000541757 D;D 0.99619 -6.28;-6.28 5.08 5.08 0.68730 . 0.162185 0.39146 N 0.001449 D 0.99796 0.9913 H 0.98487 4.245 0.46725 D 0.999177 D 0.89917 1.0 D 0.97110 1.0 D 0.97008 0.9734 9 . . . . 14.1675 0.65488 0.0:0.0:1.0:0.0 . 196 Q9UEW3 MARCO_HUMAN D 196;196;118 ENSP00000318916:G196D;ENSP00000441769:G118D . G + 2 0 MARCO 119448585 0.966000 0.33281 0.987000 0.45799 0.706000 0.40770 4.118000 0.57884 2.813000 0.96785 0.655000 0.94253 GGC MARCO-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254190.2 + ENST00000327097.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MU-Normal-SM-5EMMU SMTN 6525 broad.mit.edu 37 22 31483985 31483985 + Missense_Mutation SNP G G A rs145193216 byFrequency TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr22:31483985G>A ENST00000358743.1 + 3.0 304 c.86G>A c.(85-87)cGc>cAc p.R29H SMTN_ENST00000333137.7_Missense_Mutation_p.R29H|SMTN_ENST00000347557.2_Missense_Mutation_p.R29H|SMTN_ENST00000475548.1_3'UTR NM_134270.2 NP_599032.2 P53814 SMTN_HUMAN smoothelin 29.0 muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) actin binding (GO:0003779)|structural constituent of muscle (GO:0008307) breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25.0 GAGCGGCGGCGCATCCGCTCA 0.677 0 21.0 23.0 22.0 22 31483985.0 2192.0 4282.0 6474.0 SO:0001583 missense AY061972 CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1 22q12 2006-01-27 ENSG00000183963 ENSG00000183963 6525.0 6525.0 11126.0 protein-coding gene gene with protein product 602127 9244445, 8707825 Standard NM_134270 NM_006932 Approved uc011ale.2 P53814 OTTHUMG00000151203 ENST00000358743.1:c.86G>A 22.__UNKNOWN__:g.31483985G>A ENSP00000351593:p.Arg29His O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2 __UNKNOWN__ CCDS13887.1 . . . . . . . . . . G 16.68 3.190406 0.58017 . . ENSG00000183963 ENST00000432777;ENST00000422839;ENST00000426927;ENST00000440425;ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000431481 T;T;T;T;T;T;T;T 0.53206 0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63 4.8 3.78 0.43462 . 0.000000 0.35970 N 0.002864 T 0.32645 0.0836 N 0.24115 0.695 0.80722 D 1 B;B;B;B;B;B 0.23185 0.081;0.081;0.047;0.047;0.047;0.038 B;B;B;B;B;B 0.20384 0.029;0.029;0.029;0.029;0.029;0.017 T 0.18178 -1.0345 10 0.87932 D 0 -7.7084 9.594 0.39563 0.1598:0.0:0.8402:0.0 . 85;83;21;29;29;29 E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5 .;.;.;.;SMTN_HUMAN;. H 83;29;83;83;29;29;29;29;21;21 ENSP00000398663:R83H;ENSP00000390453:R29H;ENSP00000399432:R83H;ENSP00000401341:R83H;ENSP00000351593:R29H;ENSP00000328635:R29H;ENSP00000329532:R29H;ENSP00000394637:R21H ENSP00000329393:R29H R + 2 0 SMTN 29813985 0.988000 0.35896 1.000000 0.80357 0.998000 0.95712 1.744000 0.38268 1.173000 0.42796 0.650000 0.86243 CGC SMTN-003 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000321768.1 + ENST00000358743.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MV-Normal-SM-5EMNK GSTA1 2938 broad.mit.edu 37 6 52658986 52658986 + Silent SNP T T C TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr6:52658986T>C ENST00000334575.5 - 5.0 506 c.351A>G c.(349-351)aaA>aaG p.K117K GSTA1_ENST00000493331.1_5'UTR NM_145740.3 NP_665683.1 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 117.0 GST C-terminal. K -> Q (in dbSNP:rs1051757). epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) glutathione transferase activity (GO:0004364) large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 12.0 Lung NSC(77;0.118) Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143) GCTTGGCATCTTTTTCCTCAG 0.398 0 209.0 202.0 205.0 6 52658986.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS4945.1 6p12.2 2012-06-21 2008-11-26 ENSG00000243955 ENSG00000243955 2938.0 2938.0 2.5.1.18 """Glutathione S-transferases / Soluble""" 4626.0 protein-coding gene gene with protein product 138359 """glutathione S-transferase A1""" 9503014 Standard NM_145740 Approved uc003paz.3 P08263 OTTHUMG00000014861 ENST00000334575.5:c.351A>G 6.__UNKNOWN__:g.52658986T>C Q14750|Q5GHF8|Q5SZC1 __UNKNOWN__ CCDS4945.1 GSTA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040922.1 - ENST00000334575.5 Silent SNP PCPG-TCGA-SR-A6MV-Normal-SM-5EMNK CUX1 1523 broad.mit.edu 37 7 101559400 101559400 + Silent SNP A A G TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr7:101559400A>G ENST00000560541.1 + 0.0 657 CUX1_ENST00000437600.4_Silent_p.E23E|CUX1_ENST00000547394.2_Silent_p.E23E|CUX1_ENST00000549414.2_Silent_p.E12E|CUX1_ENST00000556210.1_Silent_p.E12E|CUX1_ENST00000550008.2_Silent_p.E12E|CUX1_ENST00000292535.7_Silent_p.E12E|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Silent_p.E23E|CUX1_ENST00000360264.3_Silent_p.E23E|CUX1_ENST00000546411.2_Silent_p.E12E|CUX1_ENST00000292538.4_Silent_p.E23E P39880 CUX1_HUMAN cut-like homeobox 1 auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634) chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565) 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) 70.0 AACAGAGAGAACTCGATGCCA 0.502 0 147.0 143.0 144.0 7 101559400.0 2203.0 4300.0 6503.0 SO:0001624 3_prime_UTR_variant M74099 CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1 7q22.1 2012-10-03 2007-11-07 2007-11-07 ENSG00000257923 ENSG00000257923 1523.0 1523.0 """Homeoboxes / CUT class""" 2557.0 protein-coding gene gene with protein product """golgi integral membrane protein 6""" 116896 """cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)""" CUTL1 8468066, 9799793, 15004235 Standard NM_001913 NM_001202543 Approved CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6 uc003uyx.4 P39880 OTTHUMG00000157129 ENST00000560541.1:c.*654A>G 7.__UNKNOWN__:g.101559400A>G B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5 __UNKNOWN__ CUX1-019 KNOWN basic|exp_conf processed_transcript protein_coding OTTHUMT00000418419.1 + ENST00000560541.1 3'UTR SNP PCPG-TCGA-SR-A6MV-Normal-SM-5EMNK ARNTL 406 broad.mit.edu 37 11 13402802 13402802 + Splice_Site SNP G G A TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr11:13402802G>A ENST00000389707.4 + 18.0 2002 c.e18+1 ARNTL_ENST00000403510.3_Splice_Site|ARNTL_ENST00000389708.3_Splice_Site|ARNTL_ENST00000403290.1_Splice_Site|ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000403482.3_Splice_Site|ARNTL_ENST00000401424.1_Splice_Site|ARNTL_ENST00000361003.4_Splice_Site NM_001178.4 NP_001169.3 O00327 BMAL1_HUMAN aryl hydrocarbon receptor nuclear translocator-like circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283) chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976) breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1) 20.0 Epithelial(150;0.0243) AGGCAAGAAGGTAAGACTGAT 0.502 0 111.0 98.0 103.0 11 13402802.0 2200.0 4294.0 6494.0 SO:0001630 splice_region_variant D89722 CCDS31430.1, CCDS44543.1, CCDS73259.1 11p15 2013-05-21 ENSG00000133794 ENSG00000133794 406.0 406.0 """Basic helix-loop-helix proteins""" 701.0 protein-coding gene gene with protein product 602550 9144434, 9079689 Standard NM_001178 XM_005252930 Approved MOP3, JAP3, BMAL1, PASD3, bHLHe5 uc001mkp.3 O00327 OTTHUMG00000150623 ENST00000389707.4:c.1614+1G>A 11.__UNKNOWN__:g.13402802G>A A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649 __UNKNOWN__ CCDS31430.1 . . . . . . . . . . G 28.2 4.899610 0.91962 . . ENSG00000133794 ENST00000396441;ENST00000389707;ENST00000401424;ENST00000403290;ENST00000361003;ENST00000403510;ENST00000339640;ENST00000403482 . . . 5.49 5.49 0.81192 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 19.3418 0.94344 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . ARNTL 13359378 1.000000 0.71417 1.000000 0.80357 0.961000 0.63080 9.340000 0.97038 2.731000 0.93534 0.650000 0.86243 . ARNTL-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000319170.1 Intron + ENST00000389707.4 Splice_Site SNP PCPG-TCGA-SR-A6MV-Normal-SM-5EMNK SF3A3 10946 broad.mit.edu 37 1 38455621 38455621 + Missense_Mutation SNP T T C TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr1:38455621T>C ENST00000373019.4 - 1.0 972 c.17A>G c.(16-18)gAg>gGg p.E6G SF3A3_ENST00000448721.2_Missense_Mutation_p.E6G NM_006802.2 NP_006793.1 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3, 60kDa 6.0 gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375) catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681) poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2) 12.0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CCGCTGCTGCTCCAGTATTGT 0.592 OREG0013386 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 114.0 104.0 107.0 1 38455621.0 2203.0 4300.0 6503.0 SO:0001583 missense U08815 CCDS428.1 1p34.3 2012-06-07 2002-08-29 ENSG00000183431 ENSG00000183431 10946.0 10946.0 10767.0 protein-coding gene gene with protein product 605596 """splicing factor 3a, subunit 3, 60kD""" 7816610, 8022796 Standard NM_006802 NM_006802 Approved SF3a60, SAP61, PRP9, PRPF9 uc001cci.3 Q12874 OTTHUMG00000004438 ENST00000373019.4:c.17A>G 1.__UNKNOWN__:g.38455621T>C ENSP00000362110:p.Glu6Gly 878.0 D3DPT5|Q15460|Q5VT87 __UNKNOWN__ CCDS428.1 . . . . . . . . . . T 32 5.127112 0.94429 . . ENSG00000183431 ENST00000373019;ENST00000448721 . . . 4.86 4.86 0.63082 . 0.047751 0.85682 D 0.000000 D 0.85869 0.5797 M 0.93328 3.405 0.80722 D 1 D;D 0.89917 1.0;0.998 D;D 0.97110 1.0;0.979 D 0.89739 0.3932 9 0.87932 D 0 -24.9809 14.9046 0.70709 0.0:0.0:0.0:1.0 . 6;6 E7EUT8;Q12874 .;SF3A3_HUMAN G 6 . ENSP00000362110:E6G E - 2 0 SF3A3 38228208 1.000000 0.71417 1.000000 0.80357 0.833000 0.47200 7.532000 0.81985 2.171000 0.68590 0.377000 0.23210 GAG SF3A3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000012976.1 - ENST00000373019.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MV-Normal-SM-5EMNK ARSI 340075 broad.mit.edu 37 5 149677492 149677492 + Missense_Mutation SNP G G T TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr5:149677492G>T ENST00000328668.7 - 2.0 1574 c.995C>A c.(994-996)cCc>cAc p.P332H NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 332.0 cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576) arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23.0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTTGAGCAGGGGACTGTGGAC 0.637 0 42.0 42.0 42.0 5 149677492.0 2203.0 4300.0 6503.0 SO:0001583 missense AY875937 CCDS34275.1 5q32 2014-03-03 2006-03-07 ENSG00000183876 340075.0 340075.0 """Arylsulfatase family""" 32521.0 protein-coding gene gene with protein product 610009 """arylsulfatase I""" 16174644, 24482476 Standard NM_001012301 NM_001012301 Approved FLJ16069, SPG66 uc003lrv.2 Q5FYB1 ENST00000328668.7:c.995C>A 5.__UNKNOWN__:g.149677492G>T ENSP00000333395:p.Pro332His A1L3B0|B3KV22|B7XD03 __UNKNOWN__ CCDS34275.1 . . . . . . . . . . G 20.5 4.001068 0.74818 . . ENSG00000183876 ENST00000328668;ENST00000515301 D;D 0.99488 -6.0;-6.0 4.46 4.46 0.54185 Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1); 0.000000 0.85682 D 0.000000 D 0.99680 0.9880 H 0.95365 3.66 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.97370 0.9975 10 0.72032 D 0.01 . 17.6599 0.88189 0.0:0.0:1.0:0.0 . 332 Q5FYB1 ARSI_HUMAN H 332;189 ENSP00000333395:P332H;ENSP00000426879:P189H ENSP00000333395:P332H P - 2 0 ARSI 149657685 1.000000 0.71417 1.000000 0.80357 0.982000 0.71751 9.601000 0.98297 2.460000 0.83146 0.561000 0.74099 CCC ARSI-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000373681.1 - ENST00000328668.7 Missense_Mutation SNP PCPG-TCGA-SR-A6MV-Normal-SM-5EMNK EPAS1 2034 broad.mit.edu 37 2 46607406 46607406 + Missense_Mutation SNP A A G TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr2:46607406A>G ENST00000263734.3 + 12.0 2105 c.1595A>G c.(1594-1596)tAt>tGt p.Y532C NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 532.0 NTAD. angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601) cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134) 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) 39.0 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) CTGGCACCCTATATCCCCATG 0.587 0 84.0 92.0 89.0 2 46607406.0 2203.0 4300.0 6503.0 SO:0001583 missense U81984 CCDS1825.1 2p21-p16 2013-05-21 ENSG00000116016 ENSG00000116016 2034.0 2034.0 """Basic helix-loop-helix proteins""" 3374.0 protein-coding gene gene with protein product """HIF-1 alpha-like factor""" 603349 9000051, 9079689, 18378852 Standard NM_001430 NM_001430 Approved MOP2, PASD2, HIF2A, HLF, bHLHe73 uc002ruv.3 Q99814 OTTHUMG00000128818 ENST00000263734.3:c.1595A>G 2.__UNKNOWN__:g.46607406A>G ENSP00000263734:p.Tyr532Cys Q86VA2|Q99630 __UNKNOWN__ CCDS1825.1 . . . . . . . . . . A 22.1 4.246852 0.80024 . . ENSG00000116016 ENST00000263734 D 0.98400 -4.91 5.06 5.06 0.68205 . 0.000000 0.85682 D 0.000000 D 0.98673 0.9555 M 0.70595 2.14 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.99861 1.1083 10 0.87932 D 0 . 14.8316 0.70153 1.0:0.0:0.0:0.0 . 532 Q99814 EPAS1_HUMAN C 532 ENSP00000263734:Y532C ENSP00000263734:Y532C Y + 2 0 EPAS1 46460910 1.000000 0.71417 1.000000 0.80357 0.906000 0.53458 9.335000 0.96500 1.915000 0.55452 0.402000 0.26972 TAT EPAS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250752.2 + ENST00000263734.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MV-Normal-SM-5EMNK COL19A1 1310 broad.mit.edu 37 6 70854156 70854156 + Splice_Site SNP G G A TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr6:70854156G>A ENST00000322773.4 + 24.0 1782 c.e24+1 COL19A1_ENST00000393344.1_Splice_Site NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501) collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674) 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) 109.0 AGGAGAAAAGGTATAGTTTAC 0.398 0 94.0 91.0 92.0 6 70854156.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant CCDS4970.1 6q12-q13 2013-01-16 ENSG00000082293 ENSG00000082293 1310.0 1310.0 """Collagens""" 2196.0 protein-coding gene gene with protein product 120165 7916703, 9143499 Standard NM_001858 Approved uc003pfc.1 Q14993 OTTHUMG00000014987 ENST00000322773.4:c.1680+1G>A 6.__UNKNOWN__:g.70854156G>A Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2 __UNKNOWN__ CCDS4970.1 . . . . . . . . . . G 12.54 1.968438 0.34754 . . ENSG00000082293 ENST00000322773;ENST00000393344 . . . 5.1 5.1 0.69264 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 17.0673 0.86562 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . COL19A1 70910877 1.000000 0.71417 1.000000 0.80357 0.180000 0.23129 6.643000 0.74334 2.529000 0.85273 0.650000 0.86243 . COL19A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041127.1 Intron + ENST00000322773.4 Splice_Site SNP PCPG-TCGA-SR-A6MV-Normal-SM-5EMNK EPS8 0 broad.mit.edu 37 12 15800190 15800190 + Missense_Mutation SNP G G C TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr12:15800190G>C ENST00000540613.1 - 8.0 1059 c.659C>G c.(658-660)tCc>tGc p.S220C EPS8_ENST00000281172.5_Missense_Mutation_p.S480C|EPS8_ENST00000543523.1_Missense_Mutation_p.S480C|EPS8_ENST00000542903.1_Missense_Mutation_p.S220C|EPS8_ENST00000543612.1_Missense_Mutation_p.S480C Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 480.0 actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165) cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982) actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33.0 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) TGATACACTGGAATGCTGAAA 0.428 0 114.0 108.0 110.0 12 15800190.0 2203.0 4300.0 6503.0 SO:0001583 missense U12535 CCDS31753.1 12p12.3 2008-05-02 ENSG00000151491 2059.0 3420.0 protein-coding gene gene with protein product 600206 8084614 Standard NM_004447 Approved uc001rdb.3 Q12929 ENST00000540613.1:c.659C>G 12.__UNKNOWN__:g.15800190G>C ENSP00000441888:p.Ser220Cys A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0 __UNKNOWN__ . . . . . . . . . . G 21.7 4.183135 0.78677 . . ENSG00000151491 ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223 T;T;T;T;T 0.07800 3.3;3.3;3.3;3.16;3.16 4.26 4.26 0.50523 . 0.611997 0.16676 N 0.204157 T 0.20333 0.0489 L 0.55481 1.735 0.34207 D 0.673825 D 0.53885 0.963 P 0.55391 0.775 T 0.13899 -1.0492 10 0.52906 T 0.07 -3.756 17.2305 0.86983 0.0:0.0:1.0:0.0 . 480 Q12929 EPS8_HUMAN C 480;480;480;220;220;480 ENSP00000441867:S480C;ENSP00000281172:S480C;ENSP00000442388:S480C;ENSP00000441888:S220C;ENSP00000437806:S220C ENSP00000281172:S480C S - 2 0 EPS8 15691457 1.000000 0.71417 0.604000 0.28916 0.979000 0.70002 5.554000 0.67294 2.373000 0.80994 0.563000 0.77884 TCC EPS8-005 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000401095.1 - ENST00000540613.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MV-Normal-SM-5EMNK FAM159A 348378 broad.mit.edu 37 1 53108560 53108560 + Missense_Mutation SNP G G A TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr1:53108560G>A ENST00000517870.1 + 2.0 358 c.208G>A c.(208-210)Gta>Ata p.V70I FAM159A_ENST00000401050.3_3'UTR NM_001042693.1 NP_001036158.1 Q6UWV7 F159A_HUMAN family with sequence similarity 159, member A 70.0 integral component of membrane (GO:0016021) endometrium(3)|lung(6)|upper_aerodigestive_tract(1) 10.0 AGGCCTGTCCGTAGCAGCAGT 0.522 0 268.0 258.0 261.0 1 53108560.0 2085.0 4199.0 6284.0 SO:0001583 missense CCDS41336.1 1p32.3 2008-08-08 ENSG00000182183 ENSG00000182183 348378.0 348378.0 28757.0 protein-coding gene gene with protein product 12477932 Standard NM_001042693 NM_001042693 Approved MGC52498 uc001cuf.3 Q6UWV7 OTTHUMG00000008330 ENST00000517870.1:c.208G>A 1.__UNKNOWN__:g.53108560G>A ENSP00000429726:p.Val70Ile Q6ZRG4 __UNKNOWN__ CCDS41336.1 . . . . . . . . . . g 0.010 -1.750825 0.00663 . . ENSG00000182183 ENST00000517870 . . . 4.7 -3.8 0.04307 . 0.710719 0.11665 N 0.541468 T 0.05960 0.0155 N 0.00289 -1.7 0.18873 N 0.999985 B 0.02656 0.0 B 0.04013 0.001 T 0.41502 -0.9505 9 0.02654 T 1 . 12.7823 0.57485 0.6176:0.0:0.3824:0.0 . 70 Q6UWV7 F159A_HUMAN I 70 . ENSP00000429726:V70I V + 1 0 FAM159A 52881148 0.890000 0.30428 0.951000 0.38953 0.004000 0.04260 0.743000 0.26231 -0.564000 0.06070 -2.008000 0.00441 GTA FAM159A-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000022934.2 + ENST00000517870.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MV-Normal-SM-5EMNK EHBP1 23301 broad.mit.edu 37 2 63220752 63220752 + Missense_Mutation SNP G G A TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr2:63220752G>A ENST00000263991.5 + 19.0 3516 c.3034G>A c.(3034-3036)Gtc>Atc p.V1012I EHBP1_ENST00000405289.1_Missense_Mutation_p.V977I|EHBP1_ENST00000405015.3_Missense_Mutation_p.V941I|EHBP1_ENST00000431489.1_Missense_Mutation_p.V941I|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000354487.3_Missense_Mutation_p.V977I NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 1012.0 cytoplasm (GO:0005737)|membrane (GO:0016020) 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) 47.0 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) AGATTCTACAGTCAGAAAAAC 0.338 0 61.0 61.0 61.0 2 63220752.0 2203.0 4299.0 6502.0 SO:0001583 missense AL833968 CCDS1872.1, CCDS46299.1, CCDS46300.1 2p15 2008-02-05 ENSG00000115504 ENSG00000115504 23301.0 23301.0 29144.0 protein-coding gene gene with protein product 609922 10048485 Standard NM_015252 NM_015252 Approved KIAA0903, NACSIN uc002sby.3 Q8NDI1 OTTHUMG00000129453 ENST00000263991.5:c.3034G>A 2.__UNKNOWN__:g.63220752G>A ENSP00000263991:p.Val1012Ile O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9 __UNKNOWN__ CCDS1872.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 9.981|9.981 1.228254|1.228254 0.22542|0.22542 .|. .|. ENSG00000115504|ENSG00000115504 ENST00000422032|ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289 .|T;T;T;T;T .|0.75477 .|-0.82;-0.82;-0.92;-0.94;-0.94 5.92|5.92 4.1|4.1 0.47936|0.47936 .|. .|0.067156 .|0.56097 .|N .|0.000025 T|T 0.68540|0.68540 0.3012|0.3012 L|L 0.59436|0.59436 1.845|1.845 0.50632|0.50632 D|D 0.999889|0.999889 .|B;B;B .|0.10296 .|0.003;0.003;0.002 .|B;B;B .|0.15484 .|0.013;0.01;0.006 T|T 0.61207|0.61207 -0.7109|-0.7109 5|10 .|0.20519 .|T .|0.43 .|. 12.7049|12.7049 0.57056|0.57056 0.1343:0.0:0.8657:0.0|0.1343:0.0:0.8657:0.0 .|. .|977;941;1012 .|Q8NDI1-2;Q8NDI1-3;Q8NDI1 .|.;.;EHBP1_HUMAN N|I 171|941;941;1012;977;977 .|ENSP00000384143:V941I;ENSP00000403783:V941I;ENSP00000263991:V1012I;ENSP00000346482:V977I;ENSP00000385524:V977I .|ENSP00000263991:V1012I S|V +|+ 2|1 0|0 EHBP1|EHBP1 63074256|63074256 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.999000|0.999000 0.98932|0.98932 5.633000|5.633000 0.67825|0.67825 0.817000|0.817000 0.34445|0.34445 0.650000|0.650000 0.86243|0.86243 AGT|GTC EHBP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251616.1 + ENST00000263991.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MV-Normal-SM-5EMNK ZNF507 22847 broad.mit.edu 37 19 32845169 32845169 + Missense_Mutation SNP C C T TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr19:32845169C>T ENST00000311921.4 + 2.0 1625 c.1433C>T c.(1432-1434)gCc>gTc p.A478V ZNF507_ENST00000544431.1_Missense_Mutation_p.A478V|ZNF507_ENST00000355898.5_Missense_Mutation_p.A478V NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 478.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31.0 Esophageal squamous(110;0.162) GATGAGAATGCCCCACCAGGC 0.448 0 81.0 83.0 82.0 19 32845169.0 2203.0 4300.0 6503.0 SO:0001583 missense AB029007 CCDS32985.1 19q13.12 2008-02-05 ENSG00000168813 22847.0 22847.0 """Zinc fingers, C2H2-type""" 23783.0 protein-coding gene gene with protein product Standard NM_014910 NM_014910 Approved KIAA1084 uc002ntd.3 Q8TCN5 ENST00000311921.4:c.1433C>T 19.__UNKNOWN__:g.32845169C>T ENSP00000312277:p.Ala478Val A8K911|Q2TBF1|Q6MZU0|Q9UPR8 __UNKNOWN__ CCDS32985.1 . . . . . . . . . . C 14.58 2.579196 0.46006 . . ENSG00000168813 ENST00000355898;ENST00000311921;ENST00000544431 T;T;T 0.04603 3.9;3.9;3.59 5.79 5.79 0.91817 . 0.225147 0.47852 D 0.000220 T 0.05823 0.0152 L 0.49640 1.575 0.37926 D 0.931849 B;B 0.26400 0.06;0.148 B;B 0.27380 0.017;0.079 T 0.34551 -0.9824 10 0.12430 T 0.62 . 11.3463 0.49563 0.0:0.8607:0.0:0.1393 . 478;478 Q8TCN5;Q8TCN5-2 ZN507_HUMAN;. V 478 ENSP00000348162:A478V;ENSP00000312277:A478V;ENSP00000441549:A478V ENSP00000312277:A478V A + 2 0 ZNF507 37537009 1.000000 0.71417 1.000000 0.80357 0.946000 0.59487 4.366000 0.59492 2.722000 0.93159 0.655000 0.94253 GCC ZNF507-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000450301.3 + ENST00000311921.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MV-Normal-SM-5EMNK LINC00698 100418747 bcgsc.ca 37 3 63083216 63083216 + RNA SNP G G A TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr3:63083216G>A ENST00000468072.1 + 0.0 125 NR_027104.1 long intergenic non-protein coding RNA 698 TCCTGGGTGCGCATGGCCTGG 0.587 0 BC039502, BC043407 3p14.2 2012-11-23 ENSG00000244342 ENSG00000244342 285401.0 285401.0 """Long non-coding RNAs""" 27720.0 non-coding RNA RNA, long non-coding Standard NR_027104 NR_027104 Approved uc003dlo.3 OTTHUMG00000158701 ENST00000468072.1: 3.__UNKNOWN__:g.63083216G>A __UNKNOWN__ LINC00698-001 KNOWN basic lincRNA lincRNA OTTHUMT00000351800.1 + ENST00000468072.1 lincRNA SNP PCPG-TCGA-SR-A6MV-Normal-SM-5EMNK RPTOR 57521 bcgsc.ca 37 17 78820303 78820303 + Missense_Mutation SNP G G A TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr17:78820303G>A ENST00000306801.3 + 11.0 1605 c.1243G>A c.(1243-1245)Gca>Aca p.A415T RPTOR_ENST00000537330.1_Missense_Mutation_p.A230T|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.A415T NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 415.0 cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929) cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931) 14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156) breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44.0 GCAGCTGACCGCATTCCAGGT 0.627 0 144.0 117.0 126.0 17 78820303.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS11773.1, CCDS54175.1 17q25.3 2013-01-10 ENSG00000141564 57521.0 57521.0 """WD repeat domain containing""" 30287.0 protein-coding gene gene with protein product """regulatory associated protein of mTOR""" 607130 10718198, 12150926 Standard NM_020761 NM_001163034 Approved KOG1, Mip1, KIAA1303, raptor uc002jyt.1 Q8N122 ENST00000306801.3:c.1243G>A 17.__UNKNOWN__:g.78820303G>A ENSP00000307272:p.Ala415Thr B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3 __UNKNOWN__ CCDS11773.1 . . . . . . . . . . G 33 5.213247 0.95069 . . ENSG00000141564 ENST00000537330;ENST00000306801;ENST00000544334 T;T;T 0.54866 0.55;0.55;0.55 4.92 4.92 0.64577 Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.80654 0.4664 H 0.94345 3.525 0.80722 D 1 D;D;D 0.89917 0.999;1.0;1.0 D;D;D 0.87578 0.982;0.998;0.995 D 0.86417 0.1752 10 0.62326 D 0.03 . 17.7008 0.88294 0.0:0.0:1.0:0.0 . 415;230;415 F5H7J5;F5GXV9;Q8N122 .;.;RPTOR_HUMAN T 230;415;415 ENSP00000440947:A230T;ENSP00000307272:A415T;ENSP00000442479:A415T ENSP00000307272:A415T A + 1 0 RPTOR 76434898 1.000000 0.71417 0.362000 0.25862 0.865000 0.49528 8.736000 0.91554 2.267000 0.75376 0.467000 0.42956 GCA RPTOR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000438125.1 + ENST00000306801.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MV-Normal-SM-5EMNK SP2 6668 bcgsc.ca 37 17 46002417 46002417 + Missense_Mutation SNP G G A TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr17:46002417G>A ENST00000376741.4 + 5.0 1642 c.1505G>A c.(1504-1506)cGc>cAc p.R502H AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA NM_003110.5 NP_003101.3 Q02086 SP2_HUMAN Sp2 transcription factor 502.0 cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872) endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 13.0 AAGCGGCGCCGCATGGCCTGC 0.627 0 38.0 41.0 40.0 17 46002417.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS11521.2 17q21.3-q22 2013-01-08 ENSG00000167182 ENSG00000167182 6668.0 6668.0 """Specificity protein transcription factors"", ""Zinc fingers, C2H2-type""" 11207.0 protein-coding gene gene with protein product 601801 1341900, 9730617 Standard NM_003110 NM_003110 Approved KIAA0048 uc002imk.3 Q02086 OTTHUMG00000150196 ENST00000376741.4:c.1505G>A 17.__UNKNOWN__:g.46002417G>A ENSP00000365931:p.Arg502His A6NK74 __UNKNOWN__ CCDS11521.2 . . . . . . . . . . G 29.4 4.999449 0.93227 . . ENSG00000167182 ENST00000376741 T 0.14144 2.53 5.25 4.28 0.50868 . 0.000000 0.85682 D 0.000000 T 0.38558 0.1045 M 0.81614 2.55 0.80722 D 1 D 0.89917 1.0 D 0.83275 0.996 T 0.35325 -0.9793 10 0.87932 D 0 . 12.7882 0.57518 0.08:0.0:0.92:0.0 . 502 Q02086 SP2_HUMAN H 502 ENSP00000365931:R502H ENSP00000365931:R502H R + 2 0 SP2 43357416 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.531000 0.81973 1.454000 0.47793 0.655000 0.94253 CGC SP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316777.1 + ENST00000376741.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MV-Normal-SM-5EMNK NTN4 59277 ucsc.edu 37 12 96104377 96104377 + Missense_Mutation SNP C C T TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr12:96104377C>T ENST00000343702.4 - 5.0 1470 c.1022G>A c.(1021-1023)tGt>tAt p.C341Y NTN4_ENST00000344911.4_Missense_Mutation_p.C304Y|NTN4_ENST00000538383.1_Missense_Mutation_p.C304Y|NTN4_ENST00000553059.1_Missense_Mutation_p.C341Y NM_021229.3 NP_067052.2 Q9HB63 NET4_HUMAN netrin 4 341.0 Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}. axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668) basement membrane (GO:0005604)|plasma membrane (GO:0005886) NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25.0 GTCGAAGTGACAGGTATCAGC 0.443 0 146.0 105.0 119.0 12 96104377.0 2203.0 4300.0 6503.0 SO:0001583 missense AF119916 CCDS9054.1 12q22 2013-03-01 ENSG00000074527 ENSG00000074527 59277.0 59277.0 """Netrins""" 13658.0 protein-coding gene gene with protein product """beta-netrin"", ""Netrin-4""" 610401 11038171 Standard NM_021229 NM_021229 Approved uc001tei.3 Q9HB63 OTTHUMG00000170290 ENST00000343702.4:c.1022G>A 12.__UNKNOWN__:g.96104377C>T ENSP00000340998:p.Cys341Tyr B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133 __UNKNOWN__ CCDS9054.1 . . . . . . . . . . C 16.78 3.218178 0.58560 . . ENSG00000074527 ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059 D;D;D;D 0.94330 -3.4;-3.4;-3.4;-3.4 5.29 5.29 0.74685 EGF-like, laminin (3); 0.087866 0.85682 D 0.000000 D 0.98333 0.9447 H 0.98918 4.37 0.80722 D 1 D;D 0.89917 0.998;1.0 D;D 0.81914 0.971;0.995 D 0.99572 1.0971 10 0.87932 D 0 . 19.3153 0.94211 0.0:1.0:0.0:0.0 . 341;341 Q9HB63-2;Q9HB63 .;NET4_HUMAN Y 341;304;304;341 ENSP00000340998:C341Y;ENSP00000339436:C304Y;ENSP00000444432:C304Y;ENSP00000447292:C341Y ENSP00000340998:C341Y C - 2 0 NTN4 94628508 1.000000 0.71417 0.997000 0.53966 0.070000 0.16714 7.487000 0.81328 2.653000 0.90120 0.655000 0.94253 TGT NTN4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000408372.1 - ENST00000343702.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MV-Normal-SM-5EMNK PAX1 5075 broad.mit.edu 37 20 21689898 21689898 + Silent SNP C C T TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr20:21689898C>T ENST00000398485.2 + 4.0 1152 c.1098C>T c.(1096-1098)ccC>ccT p.P366P PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Silent_p.P342P NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 366.0 bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38.0 GCTTTCTCCCCGCCTGCGCCT 0.711 C 1.0 0.0005 2184.0 0.9998 , , 0.0003 0.0013 0.0006 0.8178 EXOME 0.0018 SNP 0 54.0 67.0 63.0 20 21689898.0 2195.0 4284.0 6479.0 SO:0001819 synonymous_variant CCDS13146.2, CCDS74709.1 20p11.22 2007-07-12 2007-07-12 ENSG00000125813 ENSG00000125813 5075.0 5075.0 """Paired boxes""" 8615.0 protein-coding gene gene with protein product 167411 """paired box gene 1""" 1358810 Standard NM_006192 Approved uc002wsj.3 P15863 OTTHUMG00000032034 ENST00000398485.2:c.1098C>T 20.__UNKNOWN__:g.21689898C>T B4E0D6|Q642X9|Q6NTC0|Q9Y558 __UNKNOWN__ CCDS13146.2 PAX1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078282.3 + ENST00000398485.2 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV UNC79 57578 broad.mit.edu 37 14 94170982 94170982 + Missense_Mutation SNP G G A TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr14:94170982G>A ENST00000256339.4 + 49.0 7801 c.7146G>A c.(7144-7146)atG>atA p.M2382I UNC79_ENST00000393151.2_Missense_Mutation_p.M2559I|UNC79_ENST00000555664.1_Missense_Mutation_p.M2520I|UNC79_ENST00000553484.1_Missense_Mutation_p.M2581I NM_020818.3 NP_065869.3 Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2559.0 behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118.0 TGATACCTATGTGGTTGCCAA 0.438 0 184.0 174.0 177.0 14 94170982.0 2203.0 4300.0 6503.0 SO:0001583 missense AB037830 CCDS9911.2 14q32.13 2011-08-18 2011-08-18 2011-08-18 ENSG00000133958 ENSG00000133958 57578.0 57578.0 19966.0 protein-coding gene gene with protein product """KIAA1409""" KIAA1409 20714347, 21040849 Standard XM_028395 NM_020818 Approved uc001ybs.1 Q9P2D8 OTTHUMG00000029783 ENST00000256339.4:c.7146G>A 14.__UNKNOWN__:g.94170982G>A ENSP00000256339:p.Met2382Ile B5MDL6|Q6ZUT7 __UNKNOWN__ CCDS9911.2 . . . . . . . . . . g 33 5.282132 0.95489 . . ENSG00000133958 ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153 T;T;T;T 0.20598 2.07;2.09;2.06;2.07 5.84 5.84 0.93424 . 0.000000 0.85682 D 0.000000 T 0.44787 0.1310 L 0.58101 1.795 0.80722 D 1 D 0.55385 0.971 D 0.63877 0.919 T 0.19031 -1.0318 10 0.72032 D 0.01 -28.5987 20.15 0.98084 0.0:0.0:1.0:0.0 . 2581 C9JQL1 . I 2382;2520;2581;2559;2581 ENSP00000256339:M2382I;ENSP00000450868:M2520I;ENSP00000451360:M2581I;ENSP00000376858:M2559I ENSP00000256339:M2382I M + 3 0 KIAA1409 93240735 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 9.150000 0.94667 2.749000 0.94314 0.651000 0.88453 ATG UNC79-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000074288.2 + ENST00000256339.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV GLI3 2737 broad.mit.edu 37 7 42004585 42004585 + Silent SNP G G A TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr7:42004585G>A ENST00000395925.3 - 15.0 4170 c.4086C>T c.(4084-4086)agC>agT p.S1362S GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1362.0 anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060) cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053) beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700) 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) 112.0 CTGGCAGGCAGCTCTCTGGCC 0.652 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 0 33.0 33.0 33.0 7 42004585.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant Familial Cancer Database ; CCDS5465.1 7p13 2013-01-25 2009-03-05 ENSG00000106571 ENSG00000106571 2737.0 2737.0 """Zinc fingers, C2H2-type""" 4319.0 protein-coding gene gene with protein product """zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein""" 165240 """Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3""" GCPS, PHS 2118997 Standard NM_000168 NM_000168 Approved PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV uc011kbh.2 P10071 OTTHUMG00000023630 ENST00000395925.3:c.4086C>T 7.__UNKNOWN__:g.42004585G>A A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39 __UNKNOWN__ CCDS5465.1 GLI3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250806.3 - ENST00000395925.3 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV CA12 771 broad.mit.edu 37 15 63637696 63637696 + Missense_Mutation SNP C C T TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr15:63637696C>T ENST00000178638.3 - 4.0 849 c.409G>A c.(409-411)Gga>Aga p.G137R CA12_ENST00000422263.2_Missense_Mutation_p.G77R|CA12_ENST00000344366.3_Missense_Mutation_p.G137R NM_001218.3 NP_001209.1 O43570 CAH12_HUMAN carbonic anhydrase XII 137.0 bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 16.0 Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909) AAGTGCTGTCCGCTGACGGTG 0.642 C 1.0 0.0005 2184.0 1.0 , , 0.0003 0.0013 0.0005 1.0 EXOME 0.0008 SNP 0 64.0 58.0 60.0 15 63637696.0 2203.0 4300.0 6503.0 SO:0001583 missense AF051882 CCDS10185.1, CCDS10186.1 15q22 2004-01-19 ENSG00000074410 ENSG00000074410 771.0 771.0 """Carbonic anhydrases""" 1371.0 protein-coding gene gene with protein product 603263 9636197 Standard NM_001218 NM_001218 Approved HsT18816 uc002amc.3 O43570 OTTHUMG00000132881 ENST00000178638.3:c.409G>A 15.__UNKNOWN__:g.63637696C>T ENSP00000178638:p.Gly137Arg B2RE24|Q53YE5|Q9BWG2 __UNKNOWN__ CCDS10185.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 C 16.42 3.118585 0.56505 . . ENSG00000074410 ENST00000178638;ENST00000344366;ENST00000422263 T;T;T 0.61040 0.14;0.14;0.14 5.09 5.09 0.68999 Carbonic anhydrase, alpha-class, conserved site (1);Carbonic anhydrase, alpha-class, catalytic domain (4); 0.098396 0.64402 D 0.000001 T 0.80287 0.4595 M 0.89353 3.025 0.58432 D 0.999999 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.998;0.999;0.999 D 0.84601 0.0672 10 0.87932 D 0 . 17.0591 0.86542 0.0:1.0:0.0:0.0 . 77;137;137 B3KUB4;O43570-2;O43570 .;.;CAH12_HUMAN R 137;137;77 ENSP00000178638:G137R;ENSP00000343088:G137R;ENSP00000403028:G77R ENSP00000178638:G137R G - 1 0 CA12 61424749 1.000000 0.71417 0.851000 0.33527 0.002000 0.02628 5.915000 0.69973 2.357000 0.79964 0.462000 0.41574 GGA CA12-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256370.1 - ENST00000178638.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV GPR162 27239 broad.mit.edu 37 12 6935934 6935934 + Silent SNP C C T TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr12:6935934C>T ENST00000428545.2 + 5.0 958 c.480C>T c.(478-480)gcC>gcT p.A160A GPR162_ENST00000382315.3_Silent_p.A140A|GPR162_ENST00000311268.3_Silent_p.A444A NM_014449.1 NP_055264.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 444.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18.0 TCCTCCCAGCCCAGAGCCGGG 0.612 0 55.0 64.0 61.0 12 6935934.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U47928, U47929, U47924, U47925 CCDS8563.1, CCDS44819.1 12p13 2012-08-21 27239.0 27239.0 """GPCR / Class A : Orphans""" 16693.0 protein-coding gene gene with protein product 15777626 Standard NM_019858 NM_014449 Approved A-2, GRCA uc001qqw.1 Q16538 ENST00000428545.2:c.480C>T 12.__UNKNOWN__:g.6935934C>T Q16664|Q59EH5|Q66K56 __UNKNOWN__ CCDS44819.1 GPR162-001 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000399480.1 + ENST00000428545.2 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV MPDZ 8777 broad.mit.edu 37 9 13190215 13190215 + Silent SNP T T C TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr9:13190215T>C ENST00000541718.1 - 16.0 2273 c.2052A>G c.(2050-2052)acA>acG p.T684T MPDZ_ENST00000546205.1_Silent_p.T684T|MPDZ_ENST00000381015.4_Silent_p.T684T|MPDZ_ENST00000447879.1_Silent_p.T684T|MPDZ_ENST00000536827.1_Silent_p.T684T|MPDZ_ENST00000381022.2_Silent_p.T684T|MPDZ_ENST00000319217.7_Silent_p.T684T NM_001261407.1|NM_003829.4 NP_001248336.1|NP_003820.2 O75970 MPDZ_HUMAN multiple PDZ domain protein 684.0 cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032) apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923) protein C-terminus binding (GO:0008022) 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) 61.0 GBM - Glioblastoma multiforme(50;2.03e-06) GAACCTCTTCTGTACTCTGAC 0.488 0 79.0 75.0 76.0 9 13190215.0 2072.0 4217.0 6289.0 SO:0001819 synonymous_variant AF093419 CCDS47951.1, CCDS59119.1, CCDS59120.1 9p23 2008-05-15 ENSG00000107186 ENSG00000107186 8777.0 8777.0 7208.0 protein-coding gene gene with protein product 603785 Standard NM_003829 NM_003829 Approved MUPP1 uc003zlb.4 O75970 OTTHUMG00000021031 ENST00000541718.1:c.2052A>G 9.__UNKNOWN__:g.13190215T>C A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790 __UNKNOWN__ CCDS47951.1 MPDZ-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000401076.1 - ENST00000541718.1 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV CYP19A1 0 broad.mit.edu 37 15 51503017 51503017 + Missense_Mutation SNP A A C TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr15:51503017A>C ENST00000396402.1 - 10.0 1653 c.1500T>G c.(1498-1500)tgT>tgG p.C500W CYP19A1_ENST00000396404.4_Missense_Mutation_p.C500W|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.C500W|CYP19A1_ENST00000559878.1_Missense_Mutation_p.C500W NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 500.0 androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020) aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|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 (GO:0016712)|oxygen binding (GO:0019825) endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33.0 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072) AGTGTTCCAGACACCTGTCTG 0.448 Melanoma(142;1016 1807 39614 48966 51721) 0 222.0 214.0 217.0 15 51503017.0 2196.0 4293.0 6489.0 SO:0001583 missense D14473 CCDS10139.1 15q21 2009-01-26 2003-02-14 2003-02-28 ENSG00000137869 ENSG00000137869 1588.0 """Cytochrome P450s""" 2594.0 protein-coding gene gene with protein product 107910 """cytochrome P450, subfamily XIX (aromatization of androgens)""" CYP19 8477708 Standard NM_031226 Approved ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase uc001zza.4 P11511 OTTHUMG00000131747 ENST00000396402.1:c.1500T>G 15.__UNKNOWN__:g.51503017A>C ENSP00000379683:p.Cys500Trp Q16731|Q3B764|Q58FA0|Q8IYJ7 __UNKNOWN__ CCDS10139.1 . . . . . . . . . . A 10.55 1.382268 0.24944 . . ENSG00000137869 ENST00000396402;ENST00000260433;ENST00000396404 T;T;T 0.70749 -0.51;-0.51;-0.51 4.93 2.97 0.34412 . 0.692542 0.14760 N 0.300072 T 0.53530 0.1802 L 0.36672 1.1 0.28521 N 0.91308 P 0.51933 0.949 B 0.36666 0.23 T 0.52845 -0.8521 10 0.59425 D 0.04 -0.4721 6.5953 0.22669 0.3047:0.0:0.6953:0.0 . 500 P11511 CP19A_HUMAN W 500 ENSP00000379683:C500W;ENSP00000260433:C500W;ENSP00000379685:C500W ENSP00000260433:C500W C - 3 2 CYP19A1 49290309 0.335000 0.24748 0.087000 0.20705 0.018000 0.09664 0.619000 0.24388 0.779000 0.33543 -0.177000 0.13119 TGT CYP19A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254669.1 - ENST00000396402.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV GABRA4 2557 broad.mit.edu 37 4 46967155 46967155 + Missense_Mutation SNP G G T rs41301813 TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr4:46967155G>T ENST00000264318.3 - 8.0 1948 c.966C>A c.(964-966)ttC>ttA p.F322L 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 4 322.0 central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) 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) 45.0 Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897) AGACAGCTATGAACCAGTCCA 0.433 Ovarian(6;283 369 8234 12290 33402) 0 153.0 130.0 138.0 4 46967155.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS3473.1 4p12 2012-06-22 ENSG00000109158 ENSG00000109158 2557.0 2557.0 """GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors""" 4078.0 protein-coding gene gene with protein product """GABA(A) receptor, alpha 4""" 137141 7607683 Standard NM_000809 Approved uc021xnz.1 P48169 OTTHUMG00000099431 ENST00000264318.3:c.966C>A 4.__UNKNOWN__:g.46967155G>T ENSP00000264318:p.Phe322Leu Q8IYR7 __UNKNOWN__ CCDS3473.1 . . . . . . . . . . G 29.0 4.966040 0.92855 . . ENSG00000109158 ENST00000264318 D 0.86769 -2.17 4.81 3.97 0.46021 Neurotransmitter-gated ion-channel transmembrane domain (2); 0.000000 0.85682 D 0.000000 D 0.92113 0.7500 M 0.75447 2.3 0.58432 D 0.999992 D 0.69078 0.997 D 0.74348 0.983 D 0.92519 0.6023 10 0.87932 D 0 . 11.8776 0.52556 0.0836:0.0:0.9164:0.0 . 322 P48169 GBRA4_HUMAN L 322 ENSP00000264318:F322L ENSP00000264318:F322L F - 3 2 GABRA4 46661912 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.618000 0.67722 1.238000 0.43771 0.591000 0.81541 TTC GABRA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000216893.1 - ENST00000264318.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV TMPRSS11D 9407 broad.mit.edu 37 4 68693212 68693212 + Missense_Mutation SNP G G A TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr4:68693212G>A ENST00000283916.6 - 8.0 817 c.719C>T c.(718-720)gCc>gTc p.A240V UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A123V NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 240.0 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23.0 ACCAGACGTGGCAATCCAGTC 0.308 0 40.0 39.0 40.0 4 68693212.0 2203.0 4299.0 6502.0 SO:0001583 missense AB002134 CCDS3518.1 4q13.2 2010-04-13 ENSG00000153802 ENSG00000153802 9407.0 9407.0 """Serine peptidases / Transmembrane""" 24059.0 protein-coding gene gene with protein product """airway trypsin like protease""" 605369 9565616, 9070615 Standard NM_004262 XM_005265710 Approved uc003hdq.3 O60235 OTTHUMG00000129300 ENST00000283916.6:c.719C>T 4.__UNKNOWN__:g.68693212G>A ENSP00000283916:p.Ala240Val Q08AF6 __UNKNOWN__ CCDS3518.1 . . . . . . . . . . G 2.401 -0.337611 0.05278 . . ENSG00000153802 ENST00000283916;ENST00000545541 T;T 0.48836 0.8;0.8 5.58 -2.82 0.05787 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 0.631703 0.14891 N 0.292439 T 0.12732 0.0309 N 0.00602 -1.34 0.23896 N 0.996531 B 0.17667 0.023 B 0.15870 0.014 T 0.34925 -0.9809 10 0.05620 T 0.96 . 11.2734 0.49153 0.6799:0.0:0.3201:0.0 . 240 O60235 TM11D_HUMAN V 240;123 ENSP00000283916:A240V;ENSP00000442045:A123V ENSP00000283916:A240V A - 2 0 TMPRSS11D 68375807 0.001000 0.12720 0.704000 0.30370 0.030000 0.12068 -0.281000 0.08456 -0.693000 0.05121 -0.136000 0.14681 GCC TMPRSS11D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251430.3 - ENST00000283916.6 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV SRRM2 23524 broad.mit.edu 37 16 2818182 2818182 + Silent SNP G G C rs149616150 byFrequency TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr16:2818182G>C ENST00000574593.1 + 0.0 675 SRRM2_ENST00000301740.8_Silent_p.S2551S Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 mRNA splicing, via spliceosome (GO:0000398) Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634) C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485) 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) 105.0 cgtcgtcgtcgtcctcctcct 0.577 g 0.0 0.0 2184.0 0.9999 , , 0.0003 0.0001 0.0832 EXOME 0.0014 SNP 0 G 0,4396 0,0,2198 66.0 58.0 61.0 7653 -11.8 0.0 16 dbSNP_134 61.0 4,8596 3.0+/-9.4 0,4,4296 no coding-synonymous SRRM2 NM_016333.3 0,4,6494 CC,CG,GG 0.0465,0.0,0.0308 2551/2753 2818182.0 4,12992 2198.0 4300.0 6498.0 SO:0001624 3_prime_UTR_variant AF201422 CCDS32373.1 16p13.3 2012-07-02 ENSG00000167978 ENSG00000167978 23524.0 23524.0 16639.0 protein-coding gene gene with protein product 606032 10668804, 11004489 Standard NM_016333 Approved SRm300, SRL300, KIAA0324, Cwc21 uc002crk.3 Q9UQ35 OTTHUMG00000177358 ENST00000574593.1:c.*672G>C 16.__UNKNOWN__:g.2818182G>C A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40 __UNKNOWN__ SRRM2-022 PUTATIVE basic|exp_conf processed_transcript protein_coding OTTHUMT00000436432.1 + ENST00000574593.1 3'UTR SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV MUC16 94025 broad.mit.edu 37 19 9020016 9020016 + Nonsense_Mutation SNP G G T TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr19:9020016G>T ENST00000397910.4 - 21.0 37682 c.37479C>A c.(37477-37479)taC>taA p.Y12493* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12495.0 SEA 3. {ECO:0000255|PROSITE- ProRule:PRU00188}. cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982) 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) 590.0 TGTCCAGGGTGTAGGGGCCCA 0.512 0 237.0 205.0 216.0 19 9020016.0 1973.0 4160.0 6133.0 SO:0001587 stop_gained AF414442 CCDS54212.1 19p13.2 2008-02-05 2006-03-14 ENSG00000181143 94025.0 94025.0 """Mucins""" 15582.0 protein-coding gene gene with protein product 606154 11369781 Standard NM_024690 XM_006722941 Approved CA125, FLJ14303 uc002mkp.3 Q8WXI7 ENST00000397910.4:c.37479C>A 19.__UNKNOWN__:g.9020016G>T ENSP00000381008:p.Tyr12493* Q6ZQW5|Q96RK2 __UNKNOWN__ CCDS54212.1 . . . . . . . . . . . 61 57.461472 0.99989 . . ENSG00000181143 ENST00000397910 . . . 3.32 -0.537 0.11872 . . . . . . . . . . . . . . . . . . . . . . . . 0.87932 D 0 . 6.6559 0.22986 0.3614:0.0:0.6386:0.0 . . . . X 12493 . ENSP00000381008:Y12493X Y - 3 2 MUC16 8881016 0.982000 0.34865 0.000000 0.03702 0.209000 0.24338 1.183000 0.32041 -0.116000 0.11893 0.555000 0.69702 TAC MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402806.1 - ENST00000397910.4 Nonsense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV PSG8 0 broad.mit.edu 37 19 43268092 43268092 + Missense_Mutation SNP C C G TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr19:43268092C>G ENST00000306511.4 - 2.0 503 c.406G>C c.(406-408)Gga>Cga p.G136R PSG8_ENST00000401467.2_Missense_Mutation_p.G136R|PSG8_ENST00000404209.4_Missense_Mutation_p.G136R|PSG8_ENST00000406636.3_Intron NM_182707.2 NP_874366.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 136.0 Ig-like V-type. extracellular region (GO:0005576) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40.0 Prostate(69;0.00899) GTGAAATGTCCAGTTACTCCT 0.488 0 328.0 317.0 320.0 19 43268092.0 2203.0 4299.0 6502.0 SO:0001583 missense M74106 CCDS33037.1, CCDS46090.1, CCDS46091.1 19q13.2 2013-01-29 ENSG00000124467 ENSG00000124467 440533.0 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 9525.0 protein-coding gene gene with protein product 176397 1672663, 1572651 Standard NM_182707 Approved uc002ouo.2 Q9UQ74 OTTHUMG00000151118 ENST00000306511.4:c.406G>C 19.__UNKNOWN__:g.43268092C>G ENSP00000305005:p.Gly136Arg A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6 __UNKNOWN__ CCDS33037.1 . . . . . . . . . . c 11.27 1.588855 0.28357 . . ENSG00000124467 ENST00000404209;ENST00000292109;ENST00000401467;ENST00000407488;ENST00000306511 T;T;T 0.20069 2.1;3.2;2.11 1.35 1.35 0.21983 Immunoglobulin subtype (1);Immunoglobulin-like fold (1); . . . . T 0.37571 0.1008 M 0.65320 2 0.09310 N 1 B;D;B;B;B 0.89917 0.1;1.0;0.002;0.186;0.223 B;D;B;P;P 0.91635 0.302;0.999;0.026;0.453;0.589 T 0.06391 -1.0829 9 0.56958 D 0.05 . 6.1568 0.20342 0.0:1.0:0.0:0.0 . 136;136;136;136;136 B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3 .;PSG8_HUMAN;.;.;. R 136;11;136;136;136 ENSP00000385869:G136R;ENSP00000386090:G136R;ENSP00000305005:G136R ENSP00000292109:G11R G - 1 0 PSG8 47959932 0.209000 0.23505 0.005000 0.12908 0.018000 0.09664 1.546000 0.36179 1.063000 0.40649 0.184000 0.17185 GGA PSG8-008 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000464526.1 - ENST00000306511.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV CHST10 9486 broad.mit.edu 37 2 101010155 101010155 + Missense_Mutation SNP C C T TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr2:101010155C>T ENST00000264249.3 - 7.0 1008 c.623G>A c.(622-624)cGg>cAg p.R208Q CHST10_ENST00000542617.1_Missense_Mutation_p.R256Q|CHST10_ENST00000409701.1_Missense_Mutation_p.R208Q NM_004854.4 NP_004845.1 O43529 CHSTA_HUMAN carbohydrate sulfotransferase 10 208.0 carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020) HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146) breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1) 16.0 AGGCTCAAACCGGGGATTGTG 0.408 0 105.0 107.0 106.0 2 101010155.0 2203.0 4300.0 6503.0 SO:0001583 missense BC010441 CCDS2047.1 2q11.2 2008-02-05 ENSG00000115526 ENSG00000115526 9486.0 9486.0 """Sulfotransferases, membrane-bound""" 19650.0 protein-coding gene gene with protein product 606376 12080076 Standard NM_004854 NM_004854 Approved HNK-1ST uc002tam.3 O43529 OTTHUMG00000130669 ENST00000264249.3:c.623G>A 2.__UNKNOWN__:g.101010155C>T ENSP00000264249:p.Arg208Gln Q53T18 __UNKNOWN__ CCDS2047.1 . . . . . . . . . . C 34 5.395673 0.96009 . . ENSG00000115526 ENST00000264249;ENST00000542617;ENST00000409701 T;T;T 0.74106 -0.81;-0.81;-0.81 6.06 6.06 0.98353 . 0.000000 0.85682 D 0.000000 D 0.84047 0.5386 M 0.69823 2.125 0.80722 D 1 D 0.76494 0.999 D 0.63192 0.912 T 0.77843 -0.2437 10 0.14656 T 0.56 -34.0748 20.6208 0.99490 0.0:1.0:0.0:0.0 . 208 O43529 CHSTA_HUMAN Q 208;256;208 ENSP00000264249:R208Q;ENSP00000438869:R256Q;ENSP00000387309:R208Q ENSP00000264249:R208Q R - 2 0 CHST10 100376587 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.625000 0.83145 2.882000 0.98803 0.655000 0.94253 CGG CHST10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253162.1 - ENST00000264249.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV HABP2 3026 broad.mit.edu 37 10 115340448 115340448 + Missense_Mutation SNP C C G TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr10:115340448C>G ENST00000351270.3 + 8.0 931 c.835C>G c.(835-837)Cag>Gag p.Q279E HABP2_ENST00000541666.1_Missense_Mutation_p.Q279E|HABP2_ENST00000542051.1_Missense_Mutation_p.Q253E NM_004132.3 NP_004123.1 Q14520 HABP2_HUMAN hyaluronan binding protein 2 279.0 cell adhesion (GO:0007155) extracellular region (GO:0005576)|extracellular space (GO:0005615) glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252) breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23.0 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) Hyaluronan(DB08818) CTGCTCAGCCCAGGGTAAAGG 0.527 0 76.0 75.0 75.0 10 115340448.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS7577.1, CCDS53579.1 10q25.3 2008-08-01 2001-11-28 ENSG00000148702 ENSG00000148702 3026.0 3026.0 4798.0 protein-coding gene gene with protein product """plasma hyaluronan binding protein"", ""factor VII activating protein""" 603924 """hyaluronan-binding protein 2""" 8827452, 12437095 Standard NM_004132 NM_004132 Approved HABP, PHBP, HGFAL, FSAP uc001lai.4 Q14520 OTTHUMG00000019073 ENST00000351270.3:c.835C>G 10.__UNKNOWN__:g.115340448C>G ENSP00000277903:p.Gln279Glu A8K467|B7Z8U5|F5H5M6|O00663 __UNKNOWN__ CCDS7577.1 . . . . . . . . . . C 0.643 -0.812615 0.02798 . . ENSG00000148702 ENST00000542051;ENST00000351270;ENST00000541666 T;T;D 0.84944 0.09;0.09;-1.92 5.45 -4.02 0.04034 Kringle (1);Kringle-like fold (1); 1.139670 0.06287 N 0.698561 T 0.68229 0.2978 L 0.36672 1.1 0.09310 N 1 B 0.15930 0.015 B 0.04013 0.001 T 0.57418 -0.7815 10 0.02654 T 1 . 0.53 0.00626 0.2033:0.2737:0.1883:0.3348 . 279 Q14520 HABP2_HUMAN E 253;279;279 ENSP00000443283:Q253E;ENSP00000277903:Q279E;ENSP00000438373:Q279E ENSP00000277903:Q279E Q + 1 0 HABP2 115330438 0.000000 0.05858 0.000000 0.03702 0.159000 0.22180 -0.254000 0.08781 -0.555000 0.06142 0.462000 0.41574 CAG HABP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050428.1 + ENST00000351270.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV ZKSCAN5 23660 broad.mit.edu 37 7 99129144 99129144 + Missense_Mutation SNP G G A rs4729542 TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr7:99129144G>A ENST00000394170.2 + 7.0 2043 c.1792G>A c.(1792-1794)Gtc>Atc p.V598I ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.V598I|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.V598I NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 598.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21.0 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GCATCAGCGCGTCCACACAGG 0.517 0 84.0 79.0 81.0 7 99129144.0 2203.0 4300.0 6503.0 SO:0001583 missense AF170025 CCDS5667.1 7q22 2013-01-09 2007-02-20 2007-02-20 ENSG00000196652 ENSG00000196652 23660.0 23660.0 """Zinc fingers, C2H2-type"", ""-"", ""-"", ""-""" 12867.0 protein-coding gene gene with protein product 611272 """zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)""" ZFP95 10585779 Standard NM_014569 NM_014569 Approved ZNF914, ZSCAN37 uc003uqv.3 Q9Y2L8 OTTHUMG00000156749 ENST00000394170.2:c.1792G>A 7.__UNKNOWN__:g.99129144G>A ENSP00000377725:p.Val598Ile A4D280|D6W5S9 __UNKNOWN__ CCDS5667.1 . . . . . . . . . . G 9.970 1.225228 0.22457 . . ENSG00000196652 ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170 T;T;T 0.19105 2.17;2.17;2.17 5.23 5.23 0.72850 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.49916 D 0.000124 T 0.10252 0.0251 N 0.11341 0.13 0.29878 N 0.826241 P;P 0.48834 0.916;0.916 B;B 0.44108 0.441;0.441 T 0.08066 -1.0740 10 0.02654 T 1 . 9.9642 0.41715 0.0898:0.0:0.9102:0.0 rs4729542;rs4729542 598;598 Q8N718;Q9Y2L8 .;ZKSC5_HUMAN I 598 ENSP00000322872:V598I;ENSP00000392104:V598I;ENSP00000377725:V598I ENSP00000322872:V598I V + 1 0 ZKSCAN5 98967080 0.002000 0.14202 0.787000 0.31911 0.973000 0.67179 1.351000 0.34022 2.894000 0.99253 0.591000 0.81541 GTC ZKSCAN5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000345597.1 + ENST00000394170.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV GAA 2548 broad.mit.edu 37 17 78083827 78083827 + Silent SNP C C T TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr17:78083827C>T ENST00000302262.3 + 9.0 1629 c.1410C>T c.(1408-1410)aaC>aaT p.N470N GAA_ENST00000390015.3_Silent_p.N470N NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 470.0 cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181) extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020) alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450) 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) 21.0 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284)|Miglitol(DB00491) TCATCACCAACGAGACCGGCC 0.667 0 31.0 37.0 35.0 17 78083827.0 2200.0 4300.0 6500.0 SO:0001819 synonymous_variant CCDS32760.1 17q25.2-q25.3 2014-09-17 2008-08-01 2548.0 2548.0 3.2.1.20 4065.0 protein-coding gene gene with protein product """Pompe disease"", ""glycogen storage disease type II""" 606800 Standard NM_000152 Approved uc002jxq.3 P10253 ENST00000302262.3:c.1410C>T 17.__UNKNOWN__:g.78083827C>T Q09GN4|Q14351|Q16302|Q8IWE7 __UNKNOWN__ CCDS32760.1 GAA-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000437441.1 + ENST00000302262.3 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV CSTB 1476 broad.mit.edu 37 21 45194196 45194196 + Missense_Mutation SNP C C T rs147307021 TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr21:45194196C>T ENST00000291568.5 - 3.0 359 c.184G>A c.(184-186)Gag>Aag p.E62K NM_000100.3 NP_000091.1 P04080 CYTB_HUMAN cystatin B (stefin B) 62.0 adult locomotory behavior (GO:0008344)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of apoptotic process (GO:0042981) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730) cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020) lung(1)|prostate(1) 2.0 STAD - Stomach adenocarcinoma(101;0.168) ACGAAGTCCTCGTCGCCGACG 0.547 Esophageal Squamous(58;831 1093 17019 29789 35147) 0 C LYS/GLU 1,4405 2.1+/-5.4 0,1,2202 180.0 159.0 166.0 184 3.4 0.0 21 dbSNP_134 166.0 0,8600 0,0,4300 no missense CSTB NM_000100.2 56 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 possibly-damaging 62/99 45194196.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense L03558 CCDS13701.1 21q22.3 2014-09-17 ENSG00000160213 ENSG00000160213 1476.0 1476.0 2482.0 protein-coding gene gene with protein product 601145 EPM1, STFB 8596935 Standard NM_000100 NM_000100 Approved CST6, PME uc002zdr.4 P04080 OTTHUMG00000086886 ENST00000291568.5:c.184G>A 21.__UNKNOWN__:g.45194196C>T ENSP00000291568:p.Glu62Lys __UNKNOWN__ CCDS13701.1 . . . . . . . . . . C 14.13 2.443702 0.43429 2.27E-4 0.0 ENSG00000160213 ENST00000291568 T 0.26223 1.75 5.2 3.38 0.38709 Proteinase inhibitor I25, cystatin (2); 0.380111 0.29424 N 0.012188 T 0.17323 0.0416 . . . 0.09310 N 1 B 0.21452 0.056 B 0.19391 0.025 T 0.16958 -1.0385 9 0.38643 T 0.18 -6.7331 8.2555 0.31754 0.0:0.8149:0.0:0.1851 . 62 P04080 CYTB_HUMAN K 62 ENSP00000291568:E62K ENSP00000291568:E62K E - 1 0 CSTB 44018624 0.777000 0.28628 0.001000 0.08648 0.004000 0.04260 2.595000 0.46197 0.578000 0.29487 0.561000 0.74099 GAG CSTB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000195689.1 - ENST00000291568.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV TRHDE 29953 broad.mit.edu 37 12 73046874 73046874 + Missense_Mutation SNP T T A TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr12:73046874T>A ENST00000261180.4 + 17.0 2883 c.2787T>A c.(2785-2787)aaT>aaA p.N929K NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 929.0 cell-cell signaling (GO:0007267)|signal transduction (GO:0007165) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) 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) 79.0 TAGCTCGAAATCCACATGGTC 0.353 0 86.0 83.0 84.0 12 73046874.0 2203.0 4300.0 6503.0 SO:0001583 missense AF126372 CCDS9004.1 12q15-q21 2012-07-25 2005-08-09 ENSG00000072657 29953.0 29953.0 3.4.19.6 30748.0 protein-coding gene gene with protein product """pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase""" 606950 10491199, 12975309 Standard NM_013381 NM_013381 Approved PGPEP2, TRH-DE, PAP-II uc001sxa.3 Q9UKU6 ENST00000261180.4:c.2787T>A 12.__UNKNOWN__:g.73046874T>A ENSP00000261180:p.Asn929Lys A5PL19|Q6UWJ4 __UNKNOWN__ CCDS9004.1 . . . . . . . . . . T 22.2 4.261817 0.80358 . . ENSG00000072657 ENST00000261180 T 0.06849 3.25 5.47 5.47 0.80525 . 0.000000 0.85682 D 0.000000 T 0.30230 0.0758 M 0.85777 2.775 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 T 0.04029 -1.0983 10 0.54805 T 0.06 . 9.9807 0.41811 0.0:0.0755:0.0:0.9245 . 929 Q9UKU6 TRHDE_HUMAN K 929 ENSP00000261180:N929K ENSP00000261180:N929K N + 3 2 TRHDE 71333141 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 3.765000 0.55272 2.087000 0.62958 0.533000 0.62120 AAT TRHDE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405380.1 + ENST00000261180.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV SETDB1 9869 broad.mit.edu 37 1 150933428 150933428 + Missense_Mutation SNP C C A TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr1:150933428C>A ENST00000271640.5 + 16.0 3080 c.2890C>A c.(2890-2892)Cct>Act p.P964T SETDB1_ENST00000368969.4_Missense_Mutation_p.P964T NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 964.0 SET. {ECO:0000255|PROSITE- ProRule:PRU00190}. bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270) NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12.0 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) TCCCTCAATCCCTGTAGGTGG 0.547 0 118.0 119.0 119.0 1 150933428.0 2203.0 4300.0 6503.0 SO:0001583 missense D31891 CCDS972.1, CCDS44217.1, CCDS58026.1 1q21 2013-01-23 ENSG00000143379 ENSG00000143379 9869.0 9869.0 """Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing""" 10761.0 protein-coding gene gene with protein product """tudor domain containing 21""" 604396 10343109 Standard NM_001145415 Approved KG1T, KIAA0067, ESET, KMT1E, TDRD21 uc001evu.2 Q15047 OTTHUMG00000035003 ENST00000271640.5:c.2890C>A 1.__UNKNOWN__:g.150933428C>A ENSP00000271640:p.Pro964Thr A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9 __UNKNOWN__ CCDS44217.1 . . . . . . . . . . C 9.656 1.142946 0.21205 . . ENSG00000143379 ENST00000271640;ENST00000368969;ENST00000498193 D;D;T 0.86956 -2.19;-2.19;1.29 5.47 1.47 0.22746 SET domain (3); 0.575134 0.18757 N 0.132008 T 0.55609 0.1931 N 0.08118 0 0.20873 N 0.999832 B;B;B 0.19583 0.037;0.013;0.0 B;B;B 0.22880 0.042;0.01;0.0 T 0.54410 -0.8298 10 0.62326 D 0.03 . 7.4569 0.27272 0.0:0.6013:0.0:0.3987 . 964;964;964 E9PRF4;Q15047-3;Q15047 .;.;SETB1_HUMAN T 964 ENSP00000271640:P964T;ENSP00000357965:P964T;ENSP00000432348:P964T ENSP00000271640:P964T P + 1 0 SETDB1 149200052 0.023000 0.18921 0.517000 0.27799 0.702000 0.40608 0.390000 0.20768 0.434000 0.26340 0.462000 0.41574 CCT SETDB1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000084717.2 + ENST00000271640.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV SETD2 29072 broad.mit.edu 37 3 47103836 47103836 + Splice_Site SNP G G C TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr3:47103836G>C ENST00000409792.3 - 14.0 6152 c.6110C>G c.(6109-6111)aCa>aGa p.T2037R SETD2_ENST00000492397.1_5'UTR NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2037.0 angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368) chromosome (GO:0005694)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024) 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) 141.0 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) TCGTTCAGTTGCTAAGGGAAA 0.393 """N, F, S, Mis""" clear cell renal carcinoma Rec yes 3 3p21.31 29072.0 SET domain containing 2 E 0 181.0 183.0 182.0 3 47103836.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AJ238403 CCDS2749.2 3p21.31 2014-09-17 ENSG00000181555 ENSG00000181555 29072.0 29072.0 """Chromatin-modifying enzymes / K-methyltransferases""" 18420.0 protein-coding gene gene with protein product 612778 16118227, 11461154 Standard NM_014159 NM_014159 Approved HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A uc003cqs.3 Q9BYW2 OTTHUMG00000133514 ENST00000409792.3:c.6110-1C>G 3.__UNKNOWN__:g.47103836G>C O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9 __UNKNOWN__ CCDS2749.2 . . . . . . . . . . G 5.763 0.325142 0.10900 . . ENSG00000181555 ENST00000451092;ENST00000409792 D 0.87887 -2.31 4.77 0.95 0.19572 . 0.965558 0.08488 N 0.938463 T 0.67906 0.2943 N 0.03608 -0.345 0.27428 N 0.9541 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.0 T 0.55698 -0.8100 10 0.12103 T 0.63 . 6.5005 0.22166 0.4809:0.0:0.519:0.0 . 2037;2037 F2Z317;Q9BYW2 .;SETD2_HUMAN R 2037 ENSP00000386759:T2037R ENSP00000386759:T2037R T - 2 0 SETD2 47078840 1.000000 0.71417 0.994000 0.49952 0.130000 0.20726 1.374000 0.34283 0.412000 0.25729 -0.693000 0.03709 ACA SETD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257479.2 Missense_Mutation - ENST00000409792.3 Splice_Site SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV FKBP9 11328 broad.mit.edu 37 7 33020059 33020059 + Missense_Mutation SNP G G C TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr7:33020059G>C ENST00000242209.4 + 5.0 956 c.787G>C c.(787-789)Gag>Cag p.E263Q AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Missense_Mutation_p.E125Q|FKBP9_ENST00000538336.1_Missense_Mutation_p.E316Q|FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000490776.2_Missense_Mutation_p.E31Q NM_001284343.1|NM_007270.3 NP_001271272.1|NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 263.0 chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789) calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755) central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39.0 GBM - Glioblastoma multiforme(11;0.0156) CATTTCCATTGAGAACAAGGT 0.468 0 150.0 140.0 144.0 7 33020059.0 2203.0 4300.0 6503.0 SO:0001583 missense AF089745 CCDS5439.1, CCDS64622.1, CCDS64623.1 7p11.1 2013-01-10 2002-08-29 ENSG00000122642 ENSG00000122642 11328.0 11328.0 """EF-hand domain containing""" 3725.0 protein-coding gene gene with protein product """FK506-binding protein 9 (63 kD)""" 12036304 Standard NM_007270 NM_007270 Approved FKBP60, FKBP63 uc003tdh.3 O95302 OTTHUMG00000097847 ENST00000242209.4:c.787G>C 7.__UNKNOWN__:g.33020059G>C ENSP00000242209:p.Glu263Gln B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9 __UNKNOWN__ CCDS5439.1 . . . . . . . . . . G 14.59 2.581244 0.46006 . . ENSG00000122642 ENST00000242209;ENST00000538336;ENST00000538443;ENST00000418354;ENST00000490776 T;T;T;T;T 0.55588 0.51;0.82;0.51;0.91;0.91 5.06 5.06 0.68205 . 0.113216 0.64402 D 0.000012 T 0.58850 0.2151 M 0.62088 1.915 0.47183 D 0.999348 P;P;B;P 0.43885 0.454;0.82;0.386;0.745 B;P;B;B 0.47626 0.079;0.552;0.175;0.28 T 0.54984 -0.8211 10 0.20046 T 0.44 -12.2962 18.4263 0.90610 0.0:0.0:1.0:0.0 . 31;316;263;263 B7Z1G9;B7Z6H3;O95302;B3KQQ0 .;.;FKBP9_HUMAN;. Q 263;316;125;31;31 ENSP00000242209:E263Q;ENSP00000439250:E316Q;ENSP00000437504:E125Q;ENSP00000391034:E31Q;ENSP00000441317:E31Q ENSP00000242209:E263Q E + 1 0 FKBP9 32986584 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 4.965000 0.63708 2.362000 0.80069 0.650000 0.86243 GAG FKBP9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000215137.1 + ENST00000242209.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV LRP2 4036 broad.mit.edu 37 2 170055361 170055361 + Missense_Mutation SNP C C T rs142214474 TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr2:170055361C>T ENST00000263816.3 - 45.0 8798 c.8513G>A c.(8512-8514)cGc>cAc p.R2838H NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2838.0 LDL-receptor class A 19. {ECO:0000255|PROSITE-ProRule:PRU00124}. cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509) 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) 315.0 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) """""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)""" CAAATAAACGCGAGGAATACA 0.358 0 C HIS/ARG 1,4405 2.1+/-5.4 0,1,2202 114.0 109.0 111.0 8513 1.2 0.0 2 dbSNP_134 111.0 0,8600 0,0,4300 no missense LRP2 NM_004525.2 29 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 benign 2838/4656 170055361.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense CCDS2232.1 2q31.1 2013-05-28 2010-01-26 ENSG00000081479 ENSG00000081479 4036.0 4036.0 """Low density lipoprotein receptors""" 6694.0 protein-coding gene gene with protein product """megalin""" 600073 7959795 Standard NM_004525 NM_004525 Approved gp330, DBS uc002ues.3 P98164 OTTHUMG00000132179 ENST00000263816.3:c.8513G>A 2.__UNKNOWN__:g.170055361C>T ENSP00000263816:p.Arg2838His O00711|Q16215 __UNKNOWN__ CCDS2232.1 . . . . . . . . . . C 15.59 2.877481 0.51801 2.27E-4 0.0 ENSG00000081479 ENST00000263816 D 0.95622 -3.76 5.96 1.22 0.21188 Low-density lipoprotein (LDL) receptor class A, conserved site (1); 0.102682 0.64402 N 0.000002 D 0.91233 0.7237 L 0.41710 1.295 0.80722 D 1 P 0.38535 0.635 B 0.35114 0.196 D 0.86287 0.1671 10 0.45353 T 0.12 . 13.2428 0.60006 0.0:0.8697:0.0:0.1303 . 2838 P98164 LRP2_HUMAN H 2838 ENSP00000263816:R2838H ENSP00000263816:R2838H R - 2 0 LRP2 169763607 0.995000 0.38212 0.013000 0.15412 0.909000 0.53808 3.317000 0.51968 -0.049000 0.13379 0.655000 0.94253 CGC LRP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255231.2 - ENST00000263816.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV TGDS 23483 broad.mit.edu 37 13 95235377 95235377 + Missense_Mutation SNP C C T TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr13:95235377C>T ENST00000261296.5 - 5.0 547 c.427G>A c.(427-429)Gat>Aat p.D143N TGDS_ENST00000498294.1_5'UTR NM_014305.2 NP_055120.1 O95455 TGDS_HUMAN TDP-glucose 4,6-dehydratase 143.0 nucleotide-sugar metabolic process (GO:0009225) coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8.0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) TATACTTCATCTGTGCTGACA 0.373 0 150.0 139.0 142.0 13 95235377.0 2203.0 4300.0 6503.0 SO:0001583 missense AF048686 CCDS9471.1 13q32.1 2012-02-22 ENSG00000088451 ENSG00000088451 23483.0 23483.0 4.2.1.46 """Short chain dehydrogenase/reductase superfamily / Extended SDR fold""" 20324.0 protein-coding gene gene with protein product """short chain dehydrogenase/reductase family 2E, member 1""" 19027726 Standard NM_014305 NM_014305 Approved TDPGD, SDR2E1 uc001vlw.3 O95455 OTTHUMG00000046308 ENST00000261296.5:c.427G>A 13.__UNKNOWN__:g.95235377C>T ENSP00000261296:p.Asp143Asn Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9 __UNKNOWN__ CCDS9471.1 . . . . . . . . . . C 32 5.127495 0.94473 . . ENSG00000088451 ENST00000261296 D 0.93659 -3.26 5.76 5.76 0.90799 NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1); 0.107609 0.64402 D 0.000007 D 0.98128 0.9382 H 0.96691 3.865 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.98623 1.0668 10 0.87932 D 0 . 20.3242 0.98691 0.0:1.0:0.0:0.0 . 143 O95455 TGDS_HUMAN N 143 ENSP00000261296:D143N ENSP00000261296:D143N D - 1 0 TGDS 94033378 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.947000 0.70242 2.882000 0.98803 0.655000 0.94253 GAT TGDS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000106904.2 - ENST00000261296.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV MRVI1 10335 broad.mit.edu 37 11 10647542 10647542 + Missense_Mutation SNP G G A TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr11:10647542G>A ENST00000423302.2 - 9.0 1488 c.1339C>T c.(1339-1341)Cgg>Tgg p.R447W MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000547195.1_Missense_Mutation_p.R356W|MRVI1_ENST00000545852.1_Missense_Mutation_p.R132W|MRVI1_ENST00000558540.1_Missense_Mutation_p.R132W|MRVI1_ENST00000531107.1_Missense_Mutation_p.R439W|MRVI1_ENST00000552103.1_Missense_Mutation_p.R356W|MRVI1_ENST00000436272.1_Missense_Mutation_p.R420W|MRVI1_ENST00000534266.2_Missense_Mutation_p.R132W|MRVI1_ENST00000421747.1_Missense_Mutation_p.R438W|MRVI1_ENST00000527509.2_Missense_Mutation_p.R356W|MRVI1_ENST00000424001.1_Missense_Mutation_p.R132W NM_001206880.1|NM_130385.3 NP_001193809.1|NP_569056.4 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 420.0 blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529) central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22.0 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TTCTGCATCCGCACGGGCTGC 0.602 0 SO:0001583 missense AF081249 CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1 11p15.4 2014-09-11 ENSG00000072952 ENSG00000072952 10335.0 10335.0 7237.0 protein-coding gene gene with protein product """inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate""" 604673 10321731 Standard NM_001098579 NM_001098579 Approved JAW1L, IRAG uc010rcb.1 Q9Y6F6 OTTHUMG00000165773 ENST00000423302.2:c.1339C>T 11.__UNKNOWN__:g.10647542G>A ENSP00000412130:p.Arg447Trp B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1 __UNKNOWN__ CCDS55746.1 . . . . . . . . . . G 19.28 3.797636 0.70567 . . ENSG00000072952 ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000531107;ENST00000527509 T;T;T;T;T;T;T;T;T 0.26518 2.88;2.88;2.3;2.3;1.73;1.73;2.71;2.88;2.3 5.71 0.913 0.19354 . 0.210436 0.40302 N 0.001136 T 0.45955 0.1368 L 0.60455 1.87 0.42538 D 0.993066 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.76071 0.987;0.981;0.967 T 0.53648 -0.8409 10 0.87932 D 0 -14.9475 16.5582 0.84512 0.0:0.0:0.5457:0.4543 . 420;439;438 Q9Y6F6;E9PQY6;Q9Y6F6-4 MRVI1_HUMAN;.;. W 438;421;420;356;356;132;132;447;439;356 ENSP00000414598:R438W;ENSP00000412229:R420W;ENSP00000448278:R356W;ENSP00000446764:R356W;ENSP00000441971:R132W;ENSP00000401205:R132W;ENSP00000412130:R447W;ENSP00000432436:R439W;ENSP00000432067:R356W ENSP00000307885:R421W R - 1 2 MRVI1 10604118 0.908000 0.30866 0.999000 0.59377 0.995000 0.86356 0.556000 0.23438 0.280000 0.22209 0.563000 0.77884 CGG MRVI1-001 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000386137.2 - ENST00000423302.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV ATRX 546 broad.mit.edu 37 X 76777841 76777841 + Frame_Shift_Del DEL G G - TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chrX:76777841delG ENST00000373344.5 - 32.0 7089 c.6875delC c.(6874-6876)ccafs p.P2292fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.P2254fs NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2292.0 ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270) 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) 145.0 GGTCCCAGTTGGTATGTTGAA 0.383 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome Rec yes X Xq21.1 546.0 alpha thalassemia/mental retardation syndrome X-linked yes E 0 86.0 81.0 83.0 X 76777841.0 2203.0 4296.0 6499.0 SO:0001589 frameshift_variant U72937 CCDS14434.1, CCDS14435.1 Xq21.1 2014-06-17 2010-06-24 ENSG00000085224 ENSG00000085224 546.0 546.0 886.0 protein-coding gene gene with protein product """RAD54 homolog (S. cerevisiae)""" 300032 """alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome""" RAD54, JMS 7874112, 1415255, 8503439, 8630485 Standard NM_000489 NM_000489 Approved XH2, XNP uc004ecp.4 P46100 OTTHUMG00000022686 ENST00000373344.5:c.6875delC X.__UNKNOWN__:g.76777841delG ENSP00000362441:p.Pro2292fs D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3 __UNKNOWN__ CCDS14434.1 ATRX-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000058860.2 - ENST00000373344.5 Frame_Shift_Del DEL PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV PMF1 11243 broad.mit.edu 37 1 156182938 156182939 + Frame_Shift_Del DEL TT TT - TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr1:156182938_156182939delTT ENST00000368273.4 + 1.0 142_143 c.132_133delTT c.(130-135)acttttfs p.F45fs PMF1_ENST00000565805.1_Frame_Shift_Del_p.F45fs|PMF1-BGLAP_ENST00000368276.4_Frame_Shift_Del_p.F45fs|PMF1_ENST00000368277.3_Frame_Shift_Del_p.F45fs|PMF1_ENST00000567140.1_Frame_Shift_Del_p.F45fs|PMF1-BGLAP_ENST00000320139.5_Frame_Shift_Del_p.F45fs|PMF1_ENST00000368279.3_Frame_Shift_Del_p.F45fs|PMF1-BGLAP_ENST00000490491.1_Frame_Shift_Del_p.F45fs NM_001199654.1 NP_001186583.1 polyamine-modulated factor 1 kidney(1)|large_intestine(2)|lung(3) 6.0 Hepatocellular(266;0.158) TGGTGGACACTTTTCTTCAGAA 0.599 Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415) 0 SO:0001589 frameshift_variant AF141310 CCDS30886.1, CCDS55648.1, CCDS55649.1 1q22 2013-07-03 ENSG00000160783 ENSG00000160783 11243.0 11243.0 9112.0 protein-coding gene gene with protein product 609176 10419538 Standard NM_007221 NM_007221 Approved Q6P1K2 OTTHUMG00000177123 ENST00000368273.4:c.132_133delTT 1.__UNKNOWN__:g.156182940_156182941delTT ENSP00000357256:p.Phe45fs __UNKNOWN__ CCDS55648.1 PMF1-005 KNOWN basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000040864.2 + ENST00000368273.4 Frame_Shift_Del DEL PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV RRP12 23223 ucsc.edu 37 10 99141151 99141151 + Missense_Mutation SNP C C A TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr10:99141151C>A ENST00000370992.4 - 12.0 1521 c.1410G>T c.(1408-1410)aaG>aaT p.K470N RRP12_ENST00000414986.1_Missense_Mutation_p.K409N|RRP12_ENST00000315563.6_Missense_Mutation_p.K370N|RRP12_ENST00000536831.1_Missense_Mutation_p.K188N NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 470.0 integral component of membrane (GO:0016021)|nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37.0 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) ACCTGAACATCTTGGCAACAG 0.537 0 84.0 63.0 70.0 10 99141151.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS7457.1, CCDS44467.1, CCDS60605.1 10q24.2 2006-11-06 2006-11-06 2006-11-06 ENSG00000052749 ENSG00000052749 23223.0 23223.0 29100.0 protein-coding gene gene with protein product """KIAA0690""" KIAA0690 9734811 Standard NM_015179 NM_015179 Approved uc001knf.3 Q5JTH9 OTTHUMG00000018855 ENST00000370992.4:c.1410G>T 10.__UNKNOWN__:g.99141151C>A ENSP00000360031:p.Lys470Asn B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7 __UNKNOWN__ CCDS7457.1 . . . . . . . . . . C 12.89 2.073579 0.36566 . . ENSG00000052749 ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831 T;T;T;T 0.65178 -0.14;-0.14;-0.14;-0.14 5.85 5.85 0.93711 Armadillo-like helical (1);Armadillo-type fold (1); 0.085176 0.85682 D 0.000000 T 0.62134 0.2403 M 0.80183 2.485 0.58432 D 0.999999 B;B;B;B 0.30870 0.298;0.011;0.088;0.118 B;B;B;B 0.29267 0.1;0.049;0.089;0.069 T 0.61855 -0.6977 10 0.38643 T 0.18 -23.4947 10.5813 0.45257 0.0:0.8532:0.0:0.1468 . 409;370;188;470 E9PCK7;Q5JTH9-2;F5H456;Q5JTH9 .;.;.;RRP12_HUMAN N 470;370;409;188 ENSP00000360031:K470N;ENSP00000324315:K370N;ENSP00000414863:K409N;ENSP00000446184:K188N ENSP00000324315:K370N K - 3 2 RRP12 99131141 1.000000 0.71417 1.000000 0.80357 0.589000 0.36550 2.894000 0.48640 2.764000 0.94973 0.563000 0.77884 AAG RRP12-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000049699.4 - ENST00000370992.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV STAG1 10274 ucsc.edu 37 3 136287655 136287655 + Missense_Mutation SNP C C T TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr3:136287655C>T ENST00000236698.5 - 5.0 612 c.346G>A c.(346-348)Gca>Aca p.A116T STAG1_ENST00000383202.2_Missense_Mutation_p.A116T|STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000480733.1_Missense_Mutation_p.A116T Q8WVM7 STAG1_HUMAN stromal antigen 1 116.0 chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067) cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682) p.A116T(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) 58.0 TCCAGAAGTGCGATGTCCCTG 0.348 1 Substitution - Missense(1) large_intestine(1) 72.0 66.0 68.0 3 136287655.0 2203.0 4300.0 6503.0 SO:0001583 missense Z75330 CCDS3090.1 3q22.2-q22.3 2011-08-12 ENSG00000118007 ENSG00000118007 10274.0 10274.0 11354.0 protein-coding gene gene with protein product 604358 9305759 Standard NM_005862 XM_006713471 Approved SA-1, SCC3A uc003era.1 Q8WVM7 OTTHUMG00000159798 ENST00000236698.5:c.346G>A 3.__UNKNOWN__:g.136287655C>T ENSP00000236698:p.Ala116Thr O00539|Q6P275 __UNKNOWN__ . . . . . . . . . . C 35 5.570955 0.96553 . . ENSG00000118007 ENST00000383202;ENST00000236698;ENST00000480733 T;T 0.36157 1.28;1.27 5.5 5.5 0.81552 . 0.000000 0.85682 D 0.000000 T 0.57710 0.2072 M 0.82823 2.61 0.80722 D 1 D;P;P 0.56746 0.977;0.665;0.936 P;B;B 0.52957 0.714;0.086;0.271 T 0.65240 -0.6216 10 0.87932 D 0 . 18.9937 0.92804 0.0:1.0:0.0:0.0 . 116;116;116 C9JJQ0;Q6P275;Q8WVM7 .;.;STAG1_HUMAN T 116 ENSP00000372689:A116T;ENSP00000236698:A116T ENSP00000236698:A116T A - 1 0 STAG1 137770345 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.818000 0.86416 2.570000 0.86706 0.650000 0.86243 GCA STAG1-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000357403.1 - ENST00000236698.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV USP50 373509 ucsc.edu 37 15 50836972 50836972 + Silent SNP C C T TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr15:50836972C>T ENST00000532404.1 - 2.0 233 c.60G>A c.(58-60)gaG>gaA p.E20E USP50_ENST00000530218.1_Intron NM_203494.4 NP_987090.2 Q70EL3 UBP50_HUMAN ubiquitin specific peptidase 50 20.0 ubiquitin-dependent protein catabolic process (GO:0006511) ubiquitinyl hydrolase activity (GO:0036459) breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5) 13.0 all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288) AATCTGTGCACTCTGCACTGT 0.423 0 71.0 70.0 71.0 15 50836972.0 1933.0 4142.0 6075.0 SO:0001819 synonymous_variant AI990110 CCDS53944.1 15q21.1 2008-02-05 2005-08-08 ENSG00000170236 373509.0 373509.0 """Ubiquitin-specific peptidases""" 20079.0 protein-coding gene gene with protein product """ubiquitin specific protease 50""" 12838346 Standard NM_203494 Approved uc021sky.1 Q70EL3 ENST00000532404.1:c.60G>A 15.__UNKNOWN__:g.50836972C>T E9PP86 __UNKNOWN__ CCDS53944.1 USP50-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395249.1 - ENST00000532404.1 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV JMJD1C 221037 broad.mit.edu 37 10 64967854 64967854 + Missense_Mutation SNP G G C TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr10:64967854G>C ENST00000399262.2 - 10.0 3793 c.3575C>G c.(3574-3576)tCt>tGt p.S1192C JMJD1C_ENST00000399251.1_Missense_Mutation_p.S973C|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S973C|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S1010C NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1192.0 blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) intracellular (GO:0005622)|nucleoplasm (GO:0005654) dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966) 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) 77.0 Prostate(12;0.0119)|all_hematologic(501;0.191) ATTTGTAGAAGAAACTGTCAA 0.428 0 161.0 155.0 157.0 10 64967854.0 1936.0 4150.0 6086.0 SO:0001583 missense L40411 CCDS41532.1, CCDS60538.1 10q22.1 2011-05-25 2004-03-31 2004-04-01 ENSG00000171988 ENSG00000171988 221037.0 221037.0 12313.0 protein-coding gene gene with protein product 604503 """thyroid hormone receptor interactor 8""" TRIP8 7776974 Standard NM_004241 XM_005269624 Approved DKFZp761F0118, KIAA1380, FLJ14374 uc001jmn.3 Q15652 OTTHUMG00000018311 ENST00000399262.2:c.3575C>G 10.__UNKNOWN__:g.64967854G>C ENSP00000382204:p.Ser1192Cys A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7 __UNKNOWN__ CCDS41532.1 . . . . . . . . . . G 10.30 1.312108 0.23821 . . ENSG00000171988 ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921 T;T;T;T 0.58652 0.67;0.32;2.22;0.67 5.7 4.79 0.61399 . 0.418351 0.27122 N 0.020823 T 0.57799 0.2078 M 0.62723 1.935 0.54753 D 0.99998 B;B;B 0.14805 0.011;0.005;0.005 B;B;B 0.16289 0.015;0.011;0.004 T 0.56541 -0.7962 10 0.52906 T 0.07 -7.8529 16.9256 0.86175 0.0:0.1277:0.8723:0.0 . 733;1192;1010 A6PW35;Q15652;A0T124 .;JHD2C_HUMAN;. C 1192;973;973;1010 ENSP00000382204:S1192C;ENSP00000384990:S973C;ENSP00000382195:S973C;ENSP00000444682:S1010C ENSP00000382195:S973C S - 2 0 JMJD1C 64637860 1.000000 0.71417 1.000000 0.80357 0.945000 0.59286 3.123000 0.50453 1.378000 0.46305 0.563000 0.77884 TCT JMJD1C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000048249.2 - ENST00000399262.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV RYR1 6261 broad.mit.edu 37 19 38976628 38976628 + Missense_Mutation SNP C C T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr19:38976628C>T ENST00000359596.3 + 34.0 5333 c.5333C>T c.(5332-5334)tCg>tTg p.S1778L RYR1_ENST00000355481.4_Missense_Mutation_p.S1778L|RYR1_ENST00000360985.3_Missense_Mutation_p.S1778L P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1778.0 6 X approximate repeats. calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802) calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245) 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) 285.0 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786) CATCATTTCTCGCCCCCCTGT 0.682 0 33.0 33.0 33.0 19 38976628.0 2203.0 4300.0 6503.0 SO:0001583 missense J05200 CCDS33011.1, CCDS42563.1 19q13.1 2014-09-17 ENSG00000196218 6261.0 6261.0 """Ion channels / Ryanodine receptors""" 10483.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 137""" 180901 """central core disease of muscle""" MHS, MHS1, CCO 1862346, 16621918 Standard NM_000540 Approved RYR, PPP1R137 uc002oit.3 P21817 ENST00000359596.3:c.5333C>T 19.__UNKNOWN__:g.38976628C>T ENSP00000352608:p.Ser1778Leu Q16314|Q16368|Q9NPK1|Q9P1U4 __UNKNOWN__ CCDS33011.1 . . . . . . . . . . C 5.608 0.296940 0.10622 . . ENSG00000196218 ENST00000359596;ENST00000355481;ENST00000360985 T;T;T 0.80214 -1.35;-1.35;-1.35 3.62 1.4 0.22301 . 0.090924 0.45606 U 0.000349 T 0.74168 0.3681 M 0.68317 2.08 0.38639 D 0.951556 B;B 0.29531 0.247;0.03 B;B 0.20955 0.032;0.017 T 0.70857 -0.4758 10 0.59425 D 0.04 . 9.4981 0.38999 0.0:0.8187:0.0:0.1813 . 1778;1778 P21817-2;P21817 .;RYR1_HUMAN L 1778 ENSP00000352608:S1778L;ENSP00000347667:S1778L;ENSP00000354254:S1778L ENSP00000347667:S1778L S + 2 0 RYR1 43668468 1.000000 0.71417 0.315000 0.25238 0.115000 0.19883 4.763000 0.62257 0.220000 0.20860 0.585000 0.79938 TCG RYR1-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000462137.1 + ENST00000359596.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV PHLPP2 23035 broad.mit.edu 37 16 71715791 71715791 + Missense_Mutation SNP G G C TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr16:71715791G>C ENST00000393524.2 - 5.0 1486 c.753C>G c.(751-753)atC>atG p.I251M PHLPP2_ENST00000356272.3_Missense_Mutation_p.I251M|PHLPP2_ENST00000568954.1_Missense_Mutation_p.I251M|PHLPP2_ENST00000567016.1_Missense_Mutation_p.I286M|PHLPP2_ENST00000360429.3_Missense_Mutation_p.I251M Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 251.0 epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622) metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722) central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37.0 CCACGGTACTGATTCGCTGGG 0.458 0 113.0 102.0 106.0 16 71715791.0 2198.0 4300.0 6498.0 SO:0001583 missense BX647823 CCDS32479.1, CCDS73910.1 16q22.2 2013-01-11 2009-05-26 2009-05-26 ENSG00000040199 ENSG00000040199 23035.0 23035.0 """Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing""" 29149.0 protein-coding gene gene with protein product 611066 """PH domain and leucine rich repeat protein phosphatase-like""" PHLPPL 17386267 Standard NM_015020 NM_001289003 Approved KIAA0931 uc002fax.3 Q6ZVD8 ENST00000393524.2:c.753C>G 16.__UNKNOWN__:g.71715791G>C ENSP00000377159:p.Ile251Met A1L374|Q9NV17|Q9Y2E3 __UNKNOWN__ . . . . . . . . . . G 13.32 2.201215 0.38905 . . ENSG00000040199 ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126 T;T;T 0.34667 1.74;1.35;1.74 5.72 0.0972 0.14493 . 0.298254 0.38959 N 0.001516 T 0.17662 0.0424 N 0.17723 0.515 0.28640 N 0.907206 B;B 0.10296 0.003;0.001 B;B 0.15052 0.012;0.004 T 0.08166 -1.0735 10 0.59425 D 0.04 -8.3265 2.1145 0.03710 0.2756:0.1307:0.4602:0.1335 . 251;251 Q6ZVD8-3;Q6ZVD8 .;PHLP2_HUMAN M 58;251;251;251;251 ENSP00000353610:I251M;ENSP00000348611:I251M;ENSP00000377159:I251M ENSP00000299971:I58M I - 3 3 PHLPP2 70273292 0.995000 0.38212 1.000000 0.80357 0.942000 0.58702 0.240000 0.18042 0.421000 0.25980 0.650000 0.86243 ATC PHLPP2-004 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000434140.1 - ENST00000393524.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV PPFIA1 8500 broad.mit.edu 37 11 70118297 70118297 + Missense_Mutation SNP C C T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr11:70118297C>T ENST00000253925.7 + 2.0 234 c.19C>T c.(19-21)Ccg>Tcg p.P7S PPFIA1_ENST00000389547.3_Missense_Mutation_p.P7S NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 7.0 cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786) signal transducer activity (GO:0004871) 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) 65.0 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CGAGGTGATGCCGACCATCAG 0.493 0 111.0 122.0 119.0 11 70118297.0 2200.0 4294.0 6494.0 SO:0001583 missense U22816 CCDS31627.1, CCDS31628.1 11q13.3 2013-01-10 ENSG00000131626 ENSG00000131626 8500.0 8500.0 """Sterile alpha motif (SAM) domain containing""" 9245.0 protein-coding gene gene with protein product """Liprin-alpha1""" 611054 7796809, 9624153 Standard NM_003626 NM_003626 Approved LIP.1, LIPRIN uc001opo.3 Q13136 OTTHUMG00000167266 ENST00000253925.7:c.19C>T 11.__UNKNOWN__:g.70118297C>T ENSP00000253925:p.Pro7Ser A6NLE3|Q13135|Q14567|Q8N4I2 __UNKNOWN__ CCDS31627.1 . . . . . . . . . . C 23.5 4.420175 0.83559 . . ENSG00000131626 ENST00000253925;ENST00000389547;ENST00000530746;ENST00000532024 T;T;T;T 0.73575 -0.76;-0.76;-0.76;-0.76 5.03 4.1 0.47936 . 0.000000 0.64402 U 0.000003 D 0.85457 0.5701 M 0.76170 2.325 0.58432 D 0.999998 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.87360 0.2343 10 0.87932 D 0 . 15.3894 0.74731 0.0:0.8602:0.1398:0.0 . 7;7 Q13136;Q13136-2 LIPA1_HUMAN;. S 7 ENSP00000253925:P7S;ENSP00000374198:P7S;ENSP00000432722:P7S;ENSP00000432065:P7S ENSP00000253925:P7S P + 1 0 PPFIA1 69795945 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.493000 0.81493 1.089000 0.41292 0.643000 0.83706 CCG PPFIA1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000393905.1 + ENST00000253925.7 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV RUSC1 23623 broad.mit.edu 37 1 155291907 155291907 + Missense_Mutation SNP G G A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr1:155291907G>A ENST00000368352.5 + 2.0 494 c.343G>A c.(343-345)Gat>Aat p.D115N RUSC1_ENST00000368354.3_Missense_Mutation_p.D115N|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 115.0 positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211) actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070) breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21.0 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) TCTTAGCCCCGATGAGTCCCC 0.632 0 50.0 53.0 52.0 1 155291907.0 2048.0 4197.0 6245.0 SO:0001583 missense AB026894 CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1 1q21-q22 2011-04-28 ENSG00000160753 ENSG00000160753 23623.0 23623.0 17153.0 protein-coding gene gene with protein product 10760598 Standard NM_001105203 Approved NESCA uc001fkj.2 Q9BVN2 OTTHUMG00000013910 ENST00000368352.5:c.343G>A 1.__UNKNOWN__:g.155291907G>A ENSP00000357336:p.Asp115Asn B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5 __UNKNOWN__ CCDS41410.1 . . . . . . . . . . G 20.6 4.018640 0.75275 . . ENSG00000160753 ENST00000368354;ENST00000368352 T;T 0.38722 1.19;1.12 4.7 4.7 0.59300 . 0.000000 0.51477 D 0.000083 T 0.41373 0.1156 L 0.27053 0.805 0.80722 D 1 D 0.89917 1.0 D 0.67103 0.949 T 0.44726 -0.9309 10 0.72032 D 0.01 -8.0152 15.1661 0.72825 0.0:0.0:1.0:0.0 . 115 Q9BVN2 RUSC1_HUMAN N 115 ENSP00000357338:D115N;ENSP00000357336:D115N ENSP00000357336:D115N D + 1 0 RUSC1 153558531 1.000000 0.71417 0.747000 0.31113 0.807000 0.45602 6.635000 0.74295 2.437000 0.82529 0.561000 0.74099 GAT RUSC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000039071.1 + ENST00000368352.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV LAMB2 3913 broad.mit.edu 37 3 49166486 49166486 + Silent SNP G G A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr3:49166486G>A ENST00000418109.1 - 14.0 1862 c.1698C>T c.(1696-1698)caC>caT p.H566H LAMB2_ENST00000305544.4_Silent_p.H566H NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 566.0 Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}. astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202) structural molecule activity (GO:0005198) 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) 61.0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCCAAATTAGGTGGTCCAGGA 0.632 0 60.0 59.0 59.0 3 49166486.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS2789.1 3p21.3-p21.2 2013-03-01 ENSG00000172037 ENSG00000172037 3913.0 3913.0 """Laminins""" 6487.0 protein-coding gene gene with protein product """laminin S""" 150325 LAMS 2922051, 10393422 Standard NM_002292 NM_002292 Approved uc003cwe.3 P55268 OTTHUMG00000156807 ENST00000418109.1:c.1698C>T 3.__UNKNOWN__:g.49166486G>A Q16321 __UNKNOWN__ CCDS2789.1 LAMB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000345939.1 - ENST00000418109.1 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV TJP2 9414 broad.mit.edu 37 9 71866097 71866097 + Silent SNP G G C TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr9:71866097G>C ENST00000377245.4 + 21.0 3346 c.3138G>C c.(3136-3138)ggG>ggC p.G1046G TJP2_ENST00000539225.1_Silent_p.G1077G|TJP2_ENST00000453658.2_Intron|TJP2_ENST00000535702.1_Silent_p.G1013G|TJP2_ENST00000348208.4_Intron NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 1046.0 apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923) guanylate kinase activity (GO:0004385) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35.0 CTACCTTTGGGCGGTCTATAC 0.517 0 90.0 85.0 87.0 9 71866097.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant L27476 CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1 9q13-q21 2012-07-12 2012-07-12 ENSG00000119139 ENSG00000119139 9414.0 9414.0 11828.0 protein-coding gene gene with protein product """Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2""" 607709 """deafness, autosomal dominant 51""" DFNA51 7951235, 20602916 Standard NM_201629 NM_001170630 Approved ZO-2, X104, ZO2 uc011lrv.2 Q9UDY2 OTTHUMG00000019978 ENST00000377245.4:c.3138G>C 9.__UNKNOWN__:g.71866097G>C A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1 __UNKNOWN__ CCDS6627.1 TJP2-003 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000052572.2 + ENST00000377245.4 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV DSC1 1823 broad.mit.edu 37 18 28728466 28728466 + Missense_Mutation SNP C C T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr18:28728466C>T ENST00000257198.5 - 6.0 1028 c.767G>A c.(766-768)cGa>cAa p.R256Q DSC1_ENST00000257197.3_Missense_Mutation_p.R256Q|RP11-408H20.2_ENST00000581836.1_RNA NM_024421.2 NP_077739.1 Q08554 DSC1_HUMAN desmocollin 1 256.0 Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}. homophilic cell adhesion (GO:0007156) desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) 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) 53.0 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CTTACCGGATCGGCAATTTTC 0.323 0 C GLN/ARG,GLN/ARG 0,4406 0,0,2203 141.0 138.0 139.0 767,767 3.0 0.1 18 139.0 1,8599 1.2+/-3.3 0,1,4299 no missense,missense DSC1 NM_004948.3,NM_024421.2 43,43 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 probably-damaging,probably-damaging 256/841,256/895 28728466.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AF293358 CCDS11894.1, CCDS11895.1 18q12.1 2010-01-26 ENSG00000134765 ENSG00000134765 1823.0 1823.0 """Cadherins / Major cadherins""" 3035.0 protein-coding gene gene with protein product 125643 8486729 Standard NM_004948, NM_024421 NM_024421 Approved CDHF1 uc002kwn.3 Q08554 OTTHUMG00000131982 ENST00000257198.5:c.767G>A 18.__UNKNOWN__:g.28728466C>T ENSP00000257198:p.Arg256Gln Q9HB01 __UNKNOWN__ CCDS11894.1 . . . . . . . . . . C 13.85 2.361005 0.41801 0.0 1.16E-4 ENSG00000134765 ENST00000257197;ENST00000257198 T;T 0.52526 0.66;0.66 4.87 3.01 0.34805 Cadherin (4);Cadherin-like (1); 0.000000 0.41823 D 0.000816 T 0.46288 0.1385 L 0.55834 1.745 0.28780 N 0.899913 P;D 0.57257 0.947;0.979 P;P 0.48815 0.591;0.591 T 0.42207 -0.9465 10 0.45353 T 0.12 . 7.9395 0.29950 0.0:0.7249:0.0:0.2751 . 256;256 Q08554;Q9HB00 DSC1_HUMAN;. Q 256 ENSP00000257197:R256Q;ENSP00000257198:R256Q ENSP00000257197:R256Q R - 2 0 DSC1 26982464 0.559000 0.26562 0.060000 0.19600 0.141000 0.21300 0.541000 0.23207 0.521000 0.28445 0.655000 0.94253 CGA DSC1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000254946.1 - ENST00000257198.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV THSD1 55901 broad.mit.edu 37 13 52972257 52972257 + Missense_Mutation SNP A A G TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr13:52972257A>G ENST00000258613.4 - 3.0 309 c.131T>C c.(130-132)gTg>gCg p.V44A THSD1_ENST00000349258.4_Missense_Mutation_p.V44A|THSD1_ENST00000544466.1_Intron NM_018676.3 NP_061146.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 44.0 hematopoietic progenitor cell differentiation (GO:0002244) cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021) breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30.0 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) CTGGAAATCCACATACACTGT 0.443 0 137.0 113.0 121.0 13 52972257.0 2203.0 4300.0 6503.0 SO:0001583 missense AK096289 CCDS9432.1, CCDS9433.1 13q14.13 2010-04-20 2004-03-11 ENSG00000136114 ENSG00000136114 55901.0 55901.0 17754.0 protein-coding gene gene with protein product """thrombospondin, type I, domain 1""" Standard NM_018676 Approved TMTSP uc001vgo.3 Q9NS62 OTTHUMG00000016963 ENST00000258613.4:c.131T>C 13.__UNKNOWN__:g.52972257A>G ENSP00000258613:p.Val44Ala A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2 __UNKNOWN__ CCDS9432.1 . . . . . . . . . . A 19.10 3.762203 0.69763 . . ENSG00000136114 ENST00000349258;ENST00000258613;ENST00000378095 T;T 0.32272 1.46;1.5 5.87 5.87 0.94306 . 0.000000 0.85682 D 0.000000 T 0.57007 0.2024 M 0.76002 2.32 0.80722 D 1 D;D 0.89917 1.0;0.999 D;D 0.85130 0.997;0.985 T 0.61053 -0.7140 10 0.87932 D 0 -28.6985 15.4617 0.75363 1.0:0.0:0.0:0.0 . 44;44 Q9NS62-2;Q9NS62 .;THSD1_HUMAN A 44 ENSP00000340650:V44A;ENSP00000258613:V44A ENSP00000258613:V44A V - 2 0 THSD1 51870258 1.000000 0.71417 0.998000 0.56505 0.426000 0.31534 7.756000 0.85195 2.248000 0.74166 0.533000 0.62120 GTG THSD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045058.3 - ENST00000258613.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV PNLIPRP2 5408 broad.mit.edu 37 10 118385512 118385512 + RNA SNP G G A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr10:118385512G>A ENST00000298771.7 + 0.0 285 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA NR_103727.1 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641) extracellular region (GO:0005576)|extracellular space (GO:0005615) acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806) endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16.0 all cancers(201;0.015) CAACTGGACCGCAAGACACGC 0.498 0 74.0 81.0 79.0 10 118385512.0 2142.0 4277.0 6419.0 M93284 10q26.12 2014-03-14 ENSG00000266200 5408.0 5408.0 3.1.1.3 9157.0 protein-coding gene gene with protein product 604423 1379598 Standard NM_005396 NM_005396 Approved PLRP2 uc001lcq.3 P54317 ENST00000298771.7: 10.__UNKNOWN__:g.118385512G>A A8K627|Q6IB55 __UNKNOWN__ . . . . . . . . . . G 14.54 2.564789 0.45694 . . ENSG00000165862 ENST00000537242 D 0.90955 -2.76 5.86 4.96 0.65561 Lipase, N-terminal (1); 0.000000 0.53938 D 0.000049 D 0.94185 0.8134 . . . 0.23784 N 0.996856 D 0.89917 1.0 D 0.74674 0.984 D 0.88306 0.2953 9 0.62326 D 0.03 . 11.2177 0.48835 0.1485:0.0:0.8515:0.0 . 87 P54317 LIPR2_HUMAN H 87 ENSP00000446346:R87H ENSP00000446346:R87H R + 2 0 PNLIPRP2 118375502 0.988000 0.35896 1.000000 0.80357 0.992000 0.81027 1.278000 0.33179 1.621000 0.50320 0.650000 0.86243 CGC PNLIPRP2-004 KNOWN basic processed_transcript polymorphic_pseudogene OTTHUMT00000050546.6 + ENST00000298771.7 RNA SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV C11orf84 144097 broad.mit.edu 37 11 63586114 63586114 + Silent SNP C C T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr11:63586114C>T ENST00000294244.4 + 4.0 1022 c.723C>T c.(721-723)gaC>gaT p.D241D NM_138471.1 NP_612480.1 Q9BUA3 CK084_HUMAN chromosome 11 open reading frame 84 241.0 Pro-rich. endometrium(3)|kidney(1)|lung(3)|skin(1) 8.0 AAAACCTGGACCCTGACCCAG 0.607 0 45.0 53.0 50.0 11 63586114.0 2201.0 4298.0 6499.0 SO:0001819 synonymous_variant BC007540 CCDS31594.1 11q13.1 2014-02-10 ENSG00000168005 ENSG00000168005 144097.0 144097.0 25115.0 protein-coding gene gene with protein product 12477932 Standard NM_138471 NM_138471 Approved uc001nxt.3 Q9BUA3 OTTHUMG00000167746 ENST00000294244.4:c.723C>T 11.__UNKNOWN__:g.63586114C>T Q68CV7|Q6PHS2|Q96IH0 __UNKNOWN__ CCDS31594.1 C11orf84-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000396084.1 + ENST00000294244.4 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV KIAA2018 205717 broad.mit.edu 37 3 113376163 113376163 + Missense_Mutation SNP T T C TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr3:113376163T>C ENST00000491165.1 - 6.0 667 KIAA2018_ENST00000478658.1_Missense_Mutation_p.N1456D|KIAA2018_ENST00000316407.4_Missense_Mutation_p.N1456D Q68DE3 K2018_HUMAN KIAA2018 membrane (GO:0016020)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) 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) 80.0 TAGAGATGGTTACTATGAAGG 0.507 0 84.0 87.0 86.0 3 113376163.0 2191.0 4281.0 6472.0 SO:0001627 intron_variant AB095938 CCDS43133.1 3q13.2 2014-01-02 ENSG00000176542 ENSG00000176542 205717.0 205717.0 30494.0 protein-coding gene gene with protein product Standard NM_001009899 XM_005247208 Approved uc003eam.3 Q68DE3 OTTHUMG00000159322 ENST00000491165.1:c.256+6996A>G 3.__UNKNOWN__:g.113376163T>C Q7Z3L9|Q8IVF3|Q9H8T4 __UNKNOWN__ . . . . . . . . . . T 17.66 3.444094 0.63067 . . ENSG00000176542 ENST00000316407;ENST00000478658 T;T 0.20738 2.05;2.05 5.36 5.36 0.76844 . 0.000000 0.85682 D 0.000000 T 0.20495 0.0493 L 0.27053 0.805 0.44627 D 0.997608 D 0.57257 0.979 P 0.47528 0.549 T 0.01904 -1.1250 10 0.26408 T 0.33 -13.8159 15.5299 0.75952 0.0:0.0:0.0:1.0 . 1456 Q68DE3 K2018_HUMAN D 1456 ENSP00000320794:N1456D;ENSP00000420721:N1456D ENSP00000320794:N1456D N - 1 0 KIAA2018 114858853 1.000000 0.71417 1.000000 0.80357 0.950000 0.60333 4.790000 0.62453 2.254000 0.74563 0.459000 0.35465 AAC KIAA2018-002 PUTATIVE basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000354588.2 - ENST00000491165.1 Intron SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV FAM65B 9750 broad.mit.edu 37 6 24843281 24843281 + Missense_Mutation SNP G G T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr6:24843281G>T ENST00000259698.4 - 14.0 1904 c.1729C>A c.(1729-1731)Cca>Aca p.P577T FAM65B_ENST00000510784.2_Missense_Mutation_p.P561T|FAM65B_ENST00000538035.1_Missense_Mutation_p.P556T|FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000540914.1_Missense_Mutation_p.P527T|FAM65B_ENST00000378023.4_Missense_Mutation_p.P527T NM_014722.2 NP_055537.2 Q9Y4F9 FA65B_HUMAN family with sequence similarity 65, member B 577.0 cell differentiation (GO:0030154)|muscle organ development (GO:0007517) cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25.0 GTGGCCATTGGCACCTCTGCA 0.517 0 180.0 183.0 182.0 6 24843281.0 1995.0 4184.0 6179.0 SO:0001583 missense U49187 CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1 6p22.3-p21.32 2012-11-30 2008-06-13 2008-06-13 ENSG00000111913 ENSG00000111913 9750.0 9750.0 13872.0 protein-coding gene gene with protein product """myogenesis-related and NCAM-associated protein homolog (chicken)""" 611410 """chromosome 6 open reading frame 32""" C6orf32 9205841, 17150207, 17825087 Standard NM_001286447 Approved KIAA0386, DIFF48, MYONAP uc003neo.1 Q9Y4F9 OTTHUMG00000014375 ENST00000259698.4:c.1729C>A 6.__UNKNOWN__:g.24843281G>T ENSP00000259698:p.Pro577Thr A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28 __UNKNOWN__ CCDS47383.1 . . . . . . . . . . G 12.56 1.974375 0.34848 . . ENSG00000111913 ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784 T;T;T;T;T 0.34859 1.34;1.34;1.34;1.34;1.34 5.5 4.63 0.57726 . 0.507709 0.23508 N 0.047422 T 0.24314 0.0589 M 0.62723 1.935 0.09310 N 1 B;P;B;P 0.41232 0.051;0.702;0.016;0.743 B;B;B;B 0.42593 0.019;0.313;0.011;0.392 T 0.09443 -1.0674 10 0.72032 D 0.01 -15.7976 9.5873 0.39524 0.0726:0.0:0.7887:0.1388 . 561;556;527;577 B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9 .;.;.;FA65B_HUMAN T 577;556;527;527;561 ENSP00000259698:P577T;ENSP00000441138:P556T;ENSP00000367262:P527T;ENSP00000438425:P527T;ENSP00000441305:P561T ENSP00000259698:P577T P - 1 0 FAM65B 24951260 0.681000 0.27614 0.989000 0.46669 0.655000 0.38815 2.149000 0.42244 2.573000 0.86826 0.563000 0.77884 CCA FAM65B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000040024.2 - ENST00000259698.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV BRD7 29117 broad.mit.edu 37 16 50359768 50359768 + Missense_Mutation SNP T T C rs4027458 TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr16:50359768T>C ENST00000394689.2 - 11.0 1226 c.1222A>G c.(1222-1224)Agt>Ggt p.S408G BRD7_ENST00000394688.3_Missense_Mutation_p.S408G NM_001173984.2|NM_013263.4 NP_001167455.1|NP_037395.2 Q9NPI1 BRD7_HUMAN bromodomain containing 7 408.0 cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|nucleus (GO:0005634) histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22.0 all_cancers(37;0.0127) GCATAAGAACTGTAGGGCCCA 0.333 0 54.0 53.0 54.0 16 50359768.0 2198.0 4298.0 6496.0 SO:0001583 missense AF213969 CCDS10742.1, CCDS54007.1 16q12.1 2008-11-18 2002-01-14 ENSG00000166164 ENSG00000166164 29117.0 29117.0 14310.0 protein-coding gene gene with protein product """bromodomain-containing 7""" 10526152, 18809673 Standard NM_013263 NM_013263 Approved CELTIX1, BP75 uc002ege.2 Q9NPI1 OTTHUMG00000133170 ENST00000394689.2:c.1222A>G 16.__UNKNOWN__:g.50359768T>C ENSP00000378181:p.Ser408Gly Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59 __UNKNOWN__ CCDS54007.1 . . . . . . . . . . T 15.82 2.947554 0.53186 . . ENSG00000166164 ENST00000394688;ENST00000394689 T;T 0.49432 0.78;0.78 5.47 5.47 0.80525 . 0.041755 0.85682 D 0.000000 T 0.41581 0.1165 L 0.41961 1.31 0.53688 D 0.999977 P;P 0.44521 0.837;0.804 B;B 0.41412 0.356;0.242 T 0.21724 -1.0237 10 0.15952 T 0.53 -3.8252 15.5527 0.76167 0.0:0.0:0.0:1.0 rs4027458 408;408 Q9NPI1;Q9NPI1-2 BRD7_HUMAN;. G 408 ENSP00000378180:S408G;ENSP00000378181:S408G ENSP00000378180:S408G S - 1 0 BRD7 48917269 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 7.528000 0.81941 2.070000 0.61991 0.533000 0.62120 AGT BRD7-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256875.3 - ENST00000394689.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV C19orf73 55150 broad.mit.edu 37 19 49622247 49622247 + Silent SNP G G A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr19:49622247G>A ENST00000408991.2 - 1.0 150 c.33C>T c.(31-33)ggC>ggT p.G11G NM_018111.2 NP_060581.2 Q9NVV2 CS073_HUMAN chromosome 19 open reading frame 73 11.0 large_intestine(1)|lung(2) 3.0 TCCGGAAGCAGCCCCCGCCTT 0.697 0 32.0 35.0 34.0 19 49622247.0 1970.0 4131.0 6101.0 SO:0001819 synonymous_variant AK001352 CCDS42589.1 19q13.33 2013-06-17 ENSG00000221916 ENSG00000221916 55150.0 55150.0 25534.0 protein-coding gene gene with protein product 12477932 Standard NM_018111 NM_018111 Approved FLJ10490 uc002pmq.4 Q9NVV2 OTTHUMG00000183345 ENST00000408991.2:c.33C>T 19.__UNKNOWN__:g.49622247G>A Q6NSX4 __UNKNOWN__ CCDS42589.1 C19orf73-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466275.1 - ENST00000408991.2 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV HEMK1 51409 broad.mit.edu 37 3 50617553 50617553 + Silent SNP C C A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr3:50617553C>A ENST00000232854.4 + 10.0 1425 c.873C>A c.(871-873)atC>atA p.I291I HEMK1_ENST00000455834.1_Silent_p.I291I|HEMK1_ENST00000434410.1_Silent_p.I291I NM_016173.3 NP_057257.1 Q9Y5R4 HEMK1_HUMAN HemK methyltransferase family member 1 291.0 DNA methylation (GO:0006306) mitochondrion (GO:0005739) DNA binding (GO:0003677)|N-methyltransferase activity (GO:0008170)|protein methyltransferase activity (GO:0008276) lung(3) 3.0 BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212) GTAGTAGTATCTTCTTAGAAG 0.597 0 71.0 70.0 70.0 3 50617553.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF172244 CCDS2830.1 3p21 2008-02-05 ENSG00000114735 ENSG00000114735 51409.0 51409.0 24923.0 protein-coding gene gene with protein product 10690633 Standard NM_016173 XM_005265218 Approved MTQ1 uc003dav.3 Q9Y5R4 OTTHUMG00000156849 ENST00000232854.4:c.873C>A 3.__UNKNOWN__:g.50617553C>A __UNKNOWN__ CCDS2830.1 HEMK1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346231.1 + ENST00000232854.4 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV CORO7 79585 broad.mit.edu 37 16 4408410 4408410 + Silent SNP C C T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr16:4408410C>T ENST00000251166.4 - 24.0 2560 c.2415G>A c.(2413-2415)caG>caA p.Q805Q CORO7_ENST00000539968.1_Silent_p.Q585Q|CORO7-PAM16_ENST00000572467.1_Silent_p.Q805Q|CORO7_ENST00000574025.1_Silent_p.Q720Q|CORO7_ENST00000537233.2_Silent_p.Q787Q|CORO7-PAM16_ENST00000572274.1_5'UTR NM_024535.4 NP_078811.3 P57737 CORO7_HUMAN coronin 7 805.0 actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031) cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802) actin binding (GO:0003779) breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23.0 CCAGGGAGGACTGACGCAGCC 0.697 0 29.0 30.0 30.0 16 4408410.0 2196.0 4295.0 6491.0 SO:0001819 synonymous_variant AK097238 CCDS10513.1, CCDS55982.1, CCDS58417.1 16p13.3 2013-01-10 ENSG00000262246 ENSG00000262246 79585.0 79585.0 """Coronins"", ""WD repeat domain containing""" 26161.0 protein-coding gene gene with protein product 611668 15327992 Standard NM_024535 NM_024535 Approved FLJ22021 P57737 OTTHUMG00000129465 ENST00000251166.4:c.2415G>A 16.__UNKNOWN__:g.4408410C>T B4DFD6|B4DL18|I3L416|Q17RK4 __UNKNOWN__ CCDS10513.1 CORO7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251628.2 - ENST00000251166.4 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV TRHDE 29953 broad.mit.edu 37 12 73046874 73046874 + Missense_Mutation SNP T T A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr12:73046874T>A ENST00000261180.4 + 17.0 2883 c.2787T>A c.(2785-2787)aaT>aaA p.N929K NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 929.0 cell-cell signaling (GO:0007267)|signal transduction (GO:0007165) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) 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) 79.0 TAGCTCGAAATCCACATGGTC 0.353 0 86.0 83.0 84.0 12 73046874.0 2203.0 4300.0 6503.0 SO:0001583 missense AF126372 CCDS9004.1 12q15-q21 2012-07-25 2005-08-09 ENSG00000072657 29953.0 29953.0 3.4.19.6 30748.0 protein-coding gene gene with protein product """pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase""" 606950 10491199, 12975309 Standard NM_013381 NM_013381 Approved PGPEP2, TRH-DE, PAP-II uc001sxa.3 Q9UKU6 ENST00000261180.4:c.2787T>A 12.__UNKNOWN__:g.73046874T>A ENSP00000261180:p.Asn929Lys A5PL19|Q6UWJ4 __UNKNOWN__ CCDS9004.1 . . . . . . . . . . T 22.2 4.261817 0.80358 . . ENSG00000072657 ENST00000261180 T 0.06849 3.25 5.47 5.47 0.80525 . 0.000000 0.85682 D 0.000000 T 0.30230 0.0758 M 0.85777 2.775 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 T 0.04029 -1.0983 10 0.54805 T 0.06 . 9.9807 0.41811 0.0:0.0755:0.0:0.9245 . 929 Q9UKU6 TRHDE_HUMAN K 929 ENSP00000261180:N929K ENSP00000261180:N929K N + 3 2 TRHDE 71333141 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 3.765000 0.55272 2.087000 0.62958 0.533000 0.62120 AAT TRHDE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405380.1 + ENST00000261180.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV TPR 10216 broad.mit.edu 37 1 186281353 186281353 + Silent SNP G G A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr1:186281353G>A ENST00000367478.4 - 0.0 9138 PRG4_ENST00000445192.2_Silent_p.K1280K|PRG4_ENST00000367486.3_Silent_p.K1237K|PRG4_ENST00000367483.4_Silent_p.K1239K|PRG4_ENST00000367484.3_Silent_p.K809K|PRG4_ENST00000367485.4_Silent_p.K1187K NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631) 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) 123.0 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) CTGTACAGAAGTGCCCTGGAA 0.398 T NTRK1 papillary thyroid Dom yes 1 1q25 7175.0 translocated promoter region E 0 97.0 97.0 97.0 1 186281353.0 2203.0 4300.0 6503.0 SO:0001624 3_prime_UTR_variant U69668 CCDS41446.1 1q25 2012-03-13 2012-03-13 ENSG00000047410 ENSG00000047410 7175.0 7175.0 12017.0 protein-coding gene gene with protein product 189940 """translocated promoter region (to activated MET oncogene)""" 1611909, 15229283 Standard NM_003292 NM_003292 Approved uc001grv.3 P12270 OTTHUMG00000035580 ENST00000367478.4:c.*1750C>T 1.__UNKNOWN__:g.186281353G>A Q15655|Q5SWY0|Q99968 __UNKNOWN__ CCDS41446.1 TPR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086353.2 - ENST00000367478.4 3'UTR SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV BAZ2B 29994 broad.mit.edu 37 2 160241839 160241839 + Silent SNP C C T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr2:160241839C>T ENST00000392783.2 - 23.0 4008 c.3513G>A c.(3511-3513)gtG>gtA p.V1171V BAZ2B_ENST00000392782.1_Silent_p.V1135V|BAZ2B_ENST00000343439.5_Silent_p.V1071V|BAZ2B_ENST00000355831.2_Silent_p.V1137V NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1171.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) 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) 82.0 TGTCTCGATTCACACCAACAT 0.368 0 103.0 99.0 100.0 2 160241839.0 1842.0 4082.0 5924.0 SO:0001819 synonymous_variant AB032255 CCDS2209.2, CCDS74594.1 2q24.2 2013-01-28 ENSG00000123636 ENSG00000123636 29994.0 29994.0 """Zinc fingers, PHD-type""" 963.0 protein-coding gene gene with protein product 605683 10662543 Standard XM_005246488 Approved WALp4 uc002uao.3 Q9UIF8 OTTHUMG00000132027 ENST00000392783.2:c.3513G>A 2.__UNKNOWN__:g.160241839C>T D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8 __UNKNOWN__ CCDS2209.2 BAZ2B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255037.2 - ENST00000392783.2 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV FKBP9 11328 broad.mit.edu 37 7 33020059 33020059 + Missense_Mutation SNP G G C TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr7:33020059G>C ENST00000242209.4 + 5.0 956 c.787G>C c.(787-789)Gag>Cag p.E263Q AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Missense_Mutation_p.E125Q|FKBP9_ENST00000538336.1_Missense_Mutation_p.E316Q|FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000490776.2_Missense_Mutation_p.E31Q NM_001284343.1|NM_007270.3 NP_001271272.1|NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 263.0 chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789) calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755) central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39.0 GBM - Glioblastoma multiforme(11;0.0156) CATTTCCATTGAGAACAAGGT 0.468 0 150.0 140.0 144.0 7 33020059.0 2203.0 4300.0 6503.0 SO:0001583 missense AF089745 CCDS5439.1, CCDS64622.1, CCDS64623.1 7p11.1 2013-01-10 2002-08-29 ENSG00000122642 ENSG00000122642 11328.0 11328.0 """EF-hand domain containing""" 3725.0 protein-coding gene gene with protein product """FK506-binding protein 9 (63 kD)""" 12036304 Standard NM_007270 NM_007270 Approved FKBP60, FKBP63 uc003tdh.3 O95302 OTTHUMG00000097847 ENST00000242209.4:c.787G>C 7.__UNKNOWN__:g.33020059G>C ENSP00000242209:p.Glu263Gln B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9 __UNKNOWN__ CCDS5439.1 . . . . . . . . . . G 14.59 2.581244 0.46006 . . ENSG00000122642 ENST00000242209;ENST00000538336;ENST00000538443;ENST00000418354;ENST00000490776 T;T;T;T;T 0.55588 0.51;0.82;0.51;0.91;0.91 5.06 5.06 0.68205 . 0.113216 0.64402 D 0.000012 T 0.58850 0.2151 M 0.62088 1.915 0.47183 D 0.999348 P;P;B;P 0.43885 0.454;0.82;0.386;0.745 B;P;B;B 0.47626 0.079;0.552;0.175;0.28 T 0.54984 -0.8211 10 0.20046 T 0.44 -12.2962 18.4263 0.90610 0.0:0.0:1.0:0.0 . 31;316;263;263 B7Z1G9;B7Z6H3;O95302;B3KQQ0 .;.;FKBP9_HUMAN;. Q 263;316;125;31;31 ENSP00000242209:E263Q;ENSP00000439250:E316Q;ENSP00000437504:E125Q;ENSP00000391034:E31Q;ENSP00000441317:E31Q ENSP00000242209:E263Q E + 1 0 FKBP9 32986584 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 4.965000 0.63708 2.362000 0.80069 0.650000 0.86243 GAG FKBP9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000215137.1 + ENST00000242209.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV TGDS 23483 broad.mit.edu 37 13 95235377 95235377 + Missense_Mutation SNP C C T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr13:95235377C>T ENST00000261296.5 - 5.0 547 c.427G>A c.(427-429)Gat>Aat p.D143N TGDS_ENST00000498294.1_5'UTR NM_014305.2 NP_055120.1 O95455 TGDS_HUMAN TDP-glucose 4,6-dehydratase 143.0 nucleotide-sugar metabolic process (GO:0009225) coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8.0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) TATACTTCATCTGTGCTGACA 0.373 0 150.0 139.0 142.0 13 95235377.0 2203.0 4300.0 6503.0 SO:0001583 missense AF048686 CCDS9471.1 13q32.1 2012-02-22 ENSG00000088451 ENSG00000088451 23483.0 23483.0 4.2.1.46 """Short chain dehydrogenase/reductase superfamily / Extended SDR fold""" 20324.0 protein-coding gene gene with protein product """short chain dehydrogenase/reductase family 2E, member 1""" 19027726 Standard NM_014305 NM_014305 Approved TDPGD, SDR2E1 uc001vlw.3 O95455 OTTHUMG00000046308 ENST00000261296.5:c.427G>A 13.__UNKNOWN__:g.95235377C>T ENSP00000261296:p.Asp143Asn Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9 __UNKNOWN__ CCDS9471.1 . . . . . . . . . . C 32 5.127495 0.94473 . . ENSG00000088451 ENST00000261296 D 0.93659 -3.26 5.76 5.76 0.90799 NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1); 0.107609 0.64402 D 0.000007 D 0.98128 0.9382 H 0.96691 3.865 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.98623 1.0668 10 0.87932 D 0 . 20.3242 0.98691 0.0:1.0:0.0:0.0 . 143 O95455 TGDS_HUMAN N 143 ENSP00000261296:D143N ENSP00000261296:D143N D - 1 0 TGDS 94033378 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.947000 0.70242 2.882000 0.98803 0.655000 0.94253 GAT TGDS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000106904.2 - ENST00000261296.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV ERAP2 64167 broad.mit.edu 37 5 96232453 96232453 + Silent SNP T T C TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr5:96232453T>C ENST00000437043.3 + 9.0 2100 c.1389T>C c.(1387-1389)aaT>aaC p.N463N ERAP2_ENST00000379904.4_Silent_p.N418N|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000515095.1_3'UTR NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 463.0 antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217) endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24.0 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) GTATTTTGAATATGCTCAAGG 0.303 0 53.0 60.0 58.0 5 96232453.0 2195.0 4298.0 6493.0 SO:0001819 synonymous_variant AF191545 CCDS4086.1 5q15 2007-11-21 ENSG00000164308 ENSG00000164308 64167.0 64167.0 29499.0 protein-coding gene gene with protein product """leukocyte-derived arginine aminopeptidase""" 609497 12799365, 15908954 Standard NM_022350 NM_022350 Approved L-RAP, LRAP uc003kmt.3 Q6P179 OTTHUMG00000128718 ENST00000437043.3:c.1389T>C 5.__UNKNOWN__:g.96232453T>C Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2 __UNKNOWN__ CCDS4086.1 . . . . . . . . . . T 8.548 0.874811 0.17395 . . ENSG00000164308 ENST00000508077 . . . 4.95 1.15 0.20763 . . . . . T 0.45577 0.1349 . . . 0.80722 D 1 . . . . . . T 0.26052 -1.0114 4 . . . . 3.7685 0.08632 0.1571:0.2433:0.0:0.5996 . . . . H 126 . . Y + 1 0 ERAP2 96258209 0.975000 0.34042 0.917000 0.36280 0.995000 0.86356 0.064000 0.14437 0.307000 0.22880 0.460000 0.39030 TAT ERAP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250623.2 + ENST00000437043.3 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV TMCO3 55002 broad.mit.edu 37 13 114149995 114149995 + Missense_Mutation SNP C C G TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr13:114149995C>G ENST00000434316.2 + 2.0 458 c.99C>G c.(97-99)atC>atG p.I33M TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.I33M NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 33.0 integral component of membrane (GO:0016021) solute:proton antiporter activity (GO:0015299) NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25.0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) AGCGTGTGATCAAACTGCACC 0.632 0 55.0 51.0 53.0 13 114149995.0 2203.0 4300.0 6503.0 SO:0001583 missense BC012564 CCDS9537.1 13q34 2008-02-05 2005-07-22 2005-07-22 ENSG00000150403 ENSG00000150403 55002.0 55002.0 20329.0 protein-coding gene gene with protein product """chromosome 13 open reading frame 11""" C13orf11 Standard NM_017905 NM_017905 Approved FLJ20623 uc001vtu.4 Q6UWJ1 OTTHUMG00000017389 ENST00000434316.2:c.99C>G 13.__UNKNOWN__:g.114149995C>G ENSP00000389399:p.Ile33Met Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2 __UNKNOWN__ CCDS9537.1 . . . . . . . . . . C 12.38 1.919502 0.33908 . . ENSG00000150403 ENST00000434316;ENST00000375391 T 0.37058 1.22 5.46 2.47 0.30058 . 0.155744 0.53938 D 0.000052 T 0.34687 0.0906 L 0.60455 1.87 0.41435 D 0.987882 P;D 0.53151 0.901;0.958 B;P 0.45610 0.366;0.487 T 0.16600 -1.0397 10 0.72032 D 0.01 -10.9423 6.5423 0.22387 0.2659:0.5633:0.0:0.1708 . 33;33 Q6UWJ1;Q6UWJ1-2 TMCO3_HUMAN;. M 33 ENSP00000389399:I33M ENSP00000364540:I33M I + 3 3 TMCO3 113197996 0.999000 0.42202 0.014000 0.15608 0.194000 0.23727 1.023000 0.30065 0.695000 0.31675 0.555000 0.69702 ATC TMCO3-007 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045931.3 + ENST00000434316.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV RNF166 115992 broad.mit.edu 37 16 88767774 88767774 + Missense_Mutation SNP G G A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr16:88767774G>A ENST00000312838.4 - 2.0 303 c.208C>T c.(208-210)Cca>Tca p.P70S RNF166_ENST00000567844.1_Intron|RNF166_ENST00000541206.2_5'UTR|RNF166_ENST00000562499.1_5'UTR NM_178841.3 NP_849163.1 Q96A37 RN166_HUMAN ring finger protein 166 70.0 zinc ion binding (GO:0008270) endometrium(1) 1.0 BRCA - Breast invasive adenocarcinoma(80;0.0476) CGGCAGAGTGGGCACAGCGGG 0.672 0 67.0 62.0 64.0 16 88767774.0 2197.0 4300.0 6497.0 SO:0001583 missense AK057106 CCDS10969.1, CCDS54056.1, CCDS54057.1 16q24.3 2013-01-09 ENSG00000158717 ENSG00000158717 115992.0 115992.0 """RING-type (C3HC4) zinc fingers""" 28856.0 protein-coding gene gene with protein product 12477932 Standard NM_178841 NM_178841 Approved MGC2647, MGC14381 uc002flk.3 Q96A37 OTTHUMG00000137863 ENST00000312838.4:c.208C>T 16.__UNKNOWN__:g.88767774G>A ENSP00000326095:p.Pro70Ser B3KQ03|D3DX75|H3BTU8|Q96DM0 __UNKNOWN__ CCDS10969.1 . . . . . . . . . . G 19.11 3.763926 0.69878 . . ENSG00000158717 ENST00000312838 T 0.66638 -0.22 4.45 4.45 0.53987 Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1); 0.000000 0.85682 D 0.000000 D 0.82893 0.5136 M 0.92604 3.325 0.80722 D 1 D 0.63046 0.992 P 0.55871 0.786 D 0.88093 0.2814 10 0.62326 D 0.03 -17.7571 17.0939 0.86628 0.0:0.0:1.0:0.0 . 70 Q96A37 RN166_HUMAN S 70 ENSP00000326095:P70S ENSP00000326095:P70S P - 1 0 RNF166 87295275 1.000000 0.71417 0.993000 0.49108 0.659000 0.38960 7.189000 0.77747 2.043000 0.60533 0.313000 0.20887 CCA RNF166-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269544.1 - ENST00000312838.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV HMGCS2 3158 broad.mit.edu 37 1 120302591 120302591 + Missense_Mutation SNP C C A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr1:120302591C>A ENST00000369406.3 - 3.0 630 c.581G>T c.(580-582)tGt>tTt p.C194F 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) 194.0 cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) hydroxymethylglutaryl-CoA synthase activity (GO:0004421) NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28.0 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) AATGTCTCCACAGACCACCAT 0.522 0 54.0 52.0 53.0 1 120302591.0 2203.0 4300.0 6503.0 SO:0001583 missense BC044217 CCDS905.1, CCDS53353.1 1p13-p12 2014-09-17 2010-04-30 ENSG00000134240 ENSG00000134240 3158.0 3158.0 5008.0 protein-coding gene gene with protein product 600234 """3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)""" 7851882, 7893153 Standard NM_005518 NM_005518 Approved uc001eid.3 P54868 OTTHUMG00000012101 ENST00000369406.3:c.581G>T 1.__UNKNOWN__:g.120302591C>A ENSP00000358414:p.Cys194Phe B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4 __UNKNOWN__ CCDS905.1 . . . . . . . . . . C 18.65 3.669608 0.67814 . . ENSG00000134240 ENST00000369406 D 0.89196 -2.48 5.25 5.25 0.73442 Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1); 0.000000 0.64402 D 0.000001 D 0.90331 0.6975 M 0.90759 3.145 0.80722 D 1 P 0.46277 0.875 P 0.46076 0.503 D 0.92368 0.5903 10 0.87932 D 0 -11.738 13.2011 0.59769 0.0:0.8398:0.1602:0.0 . 194 P54868 HMCS2_HUMAN F 194 ENSP00000358414:C194F ENSP00000358414:C194F C - 2 0 HMGCS2 120104114 1.000000 0.71417 1.000000 0.80357 0.881000 0.50899 4.987000 0.63857 2.453000 0.82957 0.400000 0.26472 TGT HMGCS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033469.2 - ENST00000369406.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV UGT2B10 7365 broad.mit.edu 37 4 69683800 69683800 + Nonsense_Mutation SNP C C T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr4:69683800C>T ENST00000265403.7 + 2.0 799 c.772C>T c.(772-774)Cga>Tga p.R258* UGT2B10_ENST00000458688.2_Nonsense_Mutation_p.R174* NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 258.0 lipid metabolic process (GO:0006629) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) glucuronosyltransferase activity (GO:0015020) endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29.0 ATGGCTTATGCGAAACTCCTG 0.383 c 2.0 0.0009 0.0041 2184.0 0.9995 , , 0.0002 0.0008 0.785 LOWCOV 0.0008 SNP Melanoma(133;755 1763 25578 26334 46021) 0 134.0 138.0 137.0 4 69683800.0 2203.0 4299.0 6502.0 SO:0001587 stop_gained X63359 CCDS75135.1, CCDS75136.1 4q13.3 2008-02-05 2005-07-20 ENSG00000109181 7365.0 7365.0 """UDP glucuronosyltransferases""" 12544.0 protein-coding gene gene with protein product 600070 """UDP glycosyltransferase 2 family, polypeptide B10""" 8333863 Standard NM_001075 NM_001075 Approved uc003hee.3 P36537 ENST00000265403.7:c.772C>T 4.__UNKNOWN__:g.69683800C>T ENSP00000265403:p.Arg258* A8K9M3|B4DPP1|Q14CR8 __UNKNOWN__ 2 9.157509157509158E-4 2 0.0040650406504065045 0 0.0 0 0.0 0 0.0 c 13.40 2.226519 0.39300 . . ENSG00000109181 ENST00000265403;ENST00000458688 . . . 2.66 1.78 0.24846 . 0.000000 0.64402 U 0.000005 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 7.4283 0.27113 0.0:0.8564:0.0:0.1436 . . . . X 258;174 . ENSP00000265403:R258X R + 1 2 UGT2B10 69718389 0.623000 0.27094 0.002000 0.10522 0.011000 0.07611 0.086000 0.14935 0.298000 0.22638 0.184000 0.17185 CGA UGT2B10-001 KNOWN non_canonical_polymorphism|basic|appris_principal protein_coding protein_coding OTTHUMT00000365169.1 + ENST00000265403.7 Nonsense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV SLITRK1 114798 broad.mit.edu 37 13 84455344 84455344 + Missense_Mutation SNP C C T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr13:84455344C>T ENST00000377084.2 - 1.0 1184 c.299G>A c.(298-300)gGg>gAg p.G100E NM_001281503.1|NM_052910.1 NP_001268432.1|NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 100.0 adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264) integral component of membrane (GO:0016021) 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) 80.0 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CAGAAAAGCCCCCGGAACGAT 0.463 0 65.0 69.0 68.0 13 84455344.0 2203.0 4300.0 6503.0 SO:0001583 missense AB067497 CCDS9464.1 13q31.1 2004-01-08 2004-01-08 ENSG00000178235 ENSG00000178235 114798.0 114798.0 20297.0 protein-coding gene gene with protein product 609678 """leucine rich repeat containing 12""" LRRC12 14557068, 12975309 Standard NM_052910 NM_001281503 Approved KIAA1910 uc001vlk.3 Q96PX8 OTTHUMG00000017149 ENST00000377084.2:c.299G>A 13.__UNKNOWN__:g.84455344C>T ENSP00000366288:p.Gly100Glu Q5U5I6|Q96SF9 __UNKNOWN__ CCDS9464.1 . . . . . . . . . . C 19.21 3.783118 0.70222 . . ENSG00000178235 ENST00000377084 T 0.51817 0.69 4.79 4.79 0.61399 . 0.000000 0.85682 D 0.000000 T 0.71634 0.3363 M 0.87180 2.865 0.80722 D 1 D 0.69078 0.997 D 0.67725 0.953 T 0.77094 -0.2715 10 0.59425 D 0.04 -10.3987 16.5743 0.84633 0.0:1.0:0.0:0.0 . 100 Q96PX8 SLIK1_HUMAN E 100 ENSP00000366288:G100E ENSP00000366288:G100E G - 2 0 SLITRK1 83353345 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.651000 0.83577 2.477000 0.83638 0.561000 0.74099 GGG SLITRK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045396.1 - ENST00000377084.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV ATRX 546 broad.mit.edu 37 X 76937573 76937573 + Frame_Shift_Del DEL C C - TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chrX:76937573delC ENST00000373344.5 - 9.0 3389 c.3175delG c.(3175-3177)gaafs p.E1059fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.E1021fs NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1059.0 ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270) 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) 145.0 TCAGATAATTCATCCTTCTTT 0.323 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome Rec yes X Xq21.1 546.0 alpha thalassemia/mental retardation syndrome X-linked yes E 1 Unknown(1) bone(1) 98.0 110.0 106.0 X 76937573.0 2203.0 4285.0 6488.0 SO:0001589 frameshift_variant U72937 CCDS14434.1, CCDS14435.1 Xq21.1 2014-06-17 2010-06-24 ENSG00000085224 ENSG00000085224 546.0 546.0 886.0 protein-coding gene gene with protein product """RAD54 homolog (S. cerevisiae)""" 300032 """alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome""" RAD54, JMS 7874112, 1415255, 8503439, 8630485 Standard NM_000489 NM_000489 Approved XH2, XNP uc004ecp.4 P46100 OTTHUMG00000022686 ENST00000373344.5:c.3175delG X.__UNKNOWN__:g.76937573delC ENSP00000362441:p.Glu1059fs D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3 __UNKNOWN__ CCDS14434.1 ATRX-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000058860.2 - ENST00000373344.5 Frame_Shift_Del DEL PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV AFF3 3899 bcgsc.ca 37 2 100210581 100210581 + Silent SNP G G A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr2:100210581G>A ENST00000409236.2 - 13.0 1654 c.1542C>T c.(1540-1542)tgC>tgT p.C514C AFF3_ENST00000409579.1_Silent_p.C539C|AFF3_ENST00000356421.2_Silent_p.C539C|AFF3_ENST00000317233.4_Silent_p.C514C P51826 AFF3_HUMAN AF4/FMR2 family, member 3 514.0 embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) double-stranded DNA binding (GO:0003690) 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) 86.0 GGCTGGGCTGGCAAACGTCGG 0.542 0 120.0 120.0 120.0 2 100210581.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U34360 CCDS33258.1, CCDS42723.1 2q11.2-q12 2008-02-05 2005-06-27 2005-06-27 ENSG00000144218 ENSG00000144218 3899.0 3899.0 6473.0 protein-coding gene gene with protein product 601464 """lymphoid nuclear protein related to AF4""" LAF4 8662235, 8555498 Standard NM_002285 XM_005263945 Approved MLLT2-like uc002taf.3 P51826 OTTHUMG00000153011 ENST00000409236.2:c.1542C>T 2.__UNKNOWN__:g.100210581G>A B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5 __UNKNOWN__ CCDS42723.1 AFF3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000328982.3 - ENST00000409236.2 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV KLHL26 55295 ucsc.edu 37 19 18779568 18779568 + Missense_Mutation SNP C C T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr19:18779568C>T ENST00000300976.4 + 3.0 1451 c.1361C>T c.(1360-1362)gCt>gTt p.A454V KLHL26_ENST00000599006.1_Intron NM_018316.1 NP_060786.1 Q53HC5 KLH26_HUMAN kelch-like family member 26 454.0 breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17.0 TGGGGCCATGCTGGGGCCGCC 0.701 0 14.0 17.0 16.0 19 18779568.0 2194.0 4276.0 6470.0 SO:0001583 missense CCDS12384.1 19p13.11 2013-10-15 2013-02-22 ENSG00000167487 ENSG00000167487 55295.0 55295.0 """Kelch-like"", ""BTB/POZ domain containing""" 25623.0 protein-coding gene gene with protein product """kelch-like 26 (Drosophila)""" Standard NM_018316 XM_006722785 Approved uc002njz.1 Q53HC5 OTTHUMG00000183114 ENST00000300976.4:c.1361C>T 19.__UNKNOWN__:g.18779568C>T ENSP00000300976:p.Ala454Val Q8TAP0|Q9NUX3 __UNKNOWN__ CCDS12384.1 . . . . . . . . . . C 17.18 3.323923 0.60634 . . ENSG00000167487 ENST00000300976 T 0.69040 -0.37 4.68 4.68 0.58851 Galactose oxidase, beta-propeller (1); 0.000000 0.85682 D 0.000000 D 0.83330 0.5231 M 0.86028 2.79 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.85946 0.1461 9 . . . . 16.604 0.84823 0.0:1.0:0.0:0.0 . 454 Q53HC5 KLH26_HUMAN V 454 ENSP00000300976:A454V . A + 2 0 KLHL26 18640568 1.000000 0.71417 0.715000 0.30552 0.183000 0.23260 7.581000 0.82535 2.144000 0.66660 0.563000 0.77884 GCT KLHL26-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465145.1 + ENST00000300976.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV PLCB4 5332 ucsc.edu 37 20 9318679 9318679 + Missense_Mutation SNP C C A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr20:9318679C>A ENST00000378501.2 + 3.0 205 c.190C>A c.(190-192)Ctc>Atc p.L64I PLCB4_ENST00000378473.3_Missense_Mutation_p.L64I|PLCB4_ENST00000378493.1_Missense_Mutation_p.L64I|PLCB4_ENST00000414679.2_Missense_Mutation_p.L64I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.L64I|PLCB4_ENST00000334005.3_Missense_Mutation_p.L64I NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 64.0 inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790) calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871) 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) 87.0 AGAATGCTCCCTCATCAACAG 0.423 0 158.0 120.0 133.0 20 9318679.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS13104.1, CCDS13105.1, CCDS54447.1 20p12 2008-03-18 ENSG00000101333 ENSG00000101333 5332.0 5332.0 3.1.4.11 9059.0 protein-coding gene gene with protein product 600810 8530101 Standard NM_000933 Approved uc021wam.1 Q15147 OTTHUMG00000031853 ENST00000378501.2:c.190C>A 20.__UNKNOWN__:g.9318679C>A ENSP00000367762:p.Leu64Ile B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2 __UNKNOWN__ CCDS13104.1 . . . . . . . . . . C 17.93 3.508184 0.64410 . . ENSG00000101333 ENST00000407043;ENST00000441846;ENST00000334005;ENST00000378473;ENST00000437503;ENST00000278655;ENST00000378493;ENST00000378501 T;T;T;T;T;T;T;T 0.44482 0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92 5.78 5.78 0.91487 Pleckstrin homology-type (1); 0.000000 0.85682 D 0.000000 T 0.50854 0.1640 N 0.25890 0.77 0.53005 D 0.999965 P;P;P 0.52842 0.751;0.956;0.865 B;D;P 0.65010 0.196;0.931;0.503 T 0.27839 -1.0062 10 0.17832 T 0.49 . 20.0124 0.97464 0.0:1.0:0.0:0.0 . 64;64;64 E2QRH8;Q15147;Q15147-4 .;PLCB4_HUMAN;. I 64 ENSP00000385805:L64I;ENSP00000412982:L64I;ENSP00000334105:L64I;ENSP00000367734:L64I;ENSP00000391614:L64I;ENSP00000278655:L64I;ENSP00000367754:L64I;ENSP00000367762:L64I ENSP00000278655:L64I L + 1 0 PLCB4 9266679 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 4.229000 0.58625 2.749000 0.94314 0.655000 0.94253 CTC PLCB4-011 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000077958.2 + ENST00000378501.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV TCF25 22980 broad.mit.edu 37 16 89940084 89940084 + Silent SNP C C G rs115517842 by1000genomes TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr16:89940084C>G ENST00000263346.8 + 1.0 65 c.9C>G c.(7-9)cgC>cgG p.R3R NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 3.0 heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18.0 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) CTATGTCGCGCCGGGCCCTCC 0.682 0 8.0 12.0 11.0 16 89940084.0 1996.0 4011.0 6007.0 SO:0001819 synonymous_variant AF322111 CCDS10987.1 16q24.3 2008-02-05 ENSG00000141002 ENSG00000141002 22980.0 22980.0 29181.0 protein-coding gene gene with protein product 612326 12107429, 16574069 Standard NM_014972 NM_014972 Approved Nulp1, KIAA1049 uc002fpb.2 Q9BQ70 OTTHUMG00000138986 ENST00000263346.8:c.9C>G 16.__UNKNOWN__:g.89940084C>G Q2MK75|Q9UPV3 __UNKNOWN__ CCDS10987.1 TCF25-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000272875.2 + ENST00000263346.8 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV TSHZ2 128553 broad.mit.edu 37 20 51871509 51871509 + Silent SNP A A G TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr20:51871509A>G ENST00000371497.5 + 2.0 2399 c.1512A>G c.(1510-1512)gaA>gaG p.E504E TSHZ2_ENST00000603338.2_Silent_p.E501E|TSHZ2_ENST00000329613.6_Silent_p.E501E NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 504.0 multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) 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) 84.0 STAD - Stomach adenocarcinoma(23;0.1) TAAGGGAGGAAGACTTGGAAG 0.448 0 65.0 70.0 68.0 20 51871509.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF230201 CCDS33490.1, CCDS54474.1 20q13.2 2013-11-20 2007-07-16 2006-03-14 ENSG00000182463 ENSG00000182463 128553.0 128553.0 """Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type""" 13010.0 protein-coding gene gene with protein product 614118 """chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2""" C20orf17, ZNF218 9671742 Standard NM_173485 NM_173485 Approved ZABC2, OVC10-2, TSH2 uc021wex.1 Q9NRE2 OTTHUMG00000033058 ENST00000371497.5:c.1512A>G 20.__UNKNOWN__:g.51871509A>G B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260 __UNKNOWN__ CCDS33490.1 TSHZ2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080398.6 + ENST00000371497.5 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV DNAH9 1770 broad.mit.edu 37 17 11543597 11543597 + Silent SNP G G A TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr17:11543597G>A ENST00000454412.2 + 10.0 1797 c.1797G>A c.(1795-1797)ccG>ccA p.P599P DNAH9_ENST00000262442.4_Silent_p.P599P Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 599.0 Stem. {ECO:0000250}. cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283) axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774) 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) 290.0 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) GGTTCTCCCCGGTGCACAAGA 0.597 G 1.0 0.0005 2184.0 0.0017 0.9999 , , 0.0003 0.0005 0.9049 EXOME 0.0009 SNP 0 G 1,4405 2.1+/-5.4 0,1,2202 131.0 124.0 127.0 1797 -10.8 0.0 17 127.0 0,8600 0,0,4300 no coding-synonymous DNAH9 NM_001372.3 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 599/4487 11543597.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U61740 CCDS11160.1, CCDS11161.1 17p12 2009-05-07 2006-09-04 ENSG00000007174 ENSG00000007174 1770.0 1770.0 """Axonemal dyneins""" 2953.0 protein-coding gene gene with protein product 603330 """dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9""" DNAH17L 8812413, 11247663 Standard NM_001372 NM_001372 Approved Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9 uc002gne.3 Q9NYC9 OTTHUMG00000130383 ENST00000454412.2:c.1797G>A 17.__UNKNOWN__:g.11543597G>A A2VCQ8|O15064|O95494|Q9NQ28 __UNKNOWN__ DNAH9-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000252758.4 + ENST00000454412.2 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV PAX1 5075 broad.mit.edu 37 20 21689898 21689898 + Silent SNP C C T TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr20:21689898C>T ENST00000398485.2 + 4.0 1152 c.1098C>T c.(1096-1098)ccC>ccT p.P366P PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Silent_p.P342P NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 366.0 bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38.0 GCTTTCTCCCCGCCTGCGCCT 0.711 C 1.0 0.0005 2184.0 0.9998 , , 0.0003 0.0013 0.0006 0.8178 EXOME 0.0018 SNP 0 54.0 67.0 63.0 20 21689898.0 2195.0 4284.0 6479.0 SO:0001819 synonymous_variant CCDS13146.2, CCDS74709.1 20p11.22 2007-07-12 2007-07-12 ENSG00000125813 ENSG00000125813 5075.0 5075.0 """Paired boxes""" 8615.0 protein-coding gene gene with protein product 167411 """paired box gene 1""" 1358810 Standard NM_006192 Approved uc002wsj.3 P15863 OTTHUMG00000032034 ENST00000398485.2:c.1098C>T 20.__UNKNOWN__:g.21689898C>T B4E0D6|Q642X9|Q6NTC0|Q9Y558 __UNKNOWN__ CCDS13146.2 PAX1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078282.3 + ENST00000398485.2 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV BCL11B 64919 broad.mit.edu 37 14 99737529 99737529 + Silent SNP C C G TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr14:99737529C>G ENST00000357195.3 - 1.0 36 c.27G>C c.(25-27)ccG>ccC p.P9P BCL11B_ENST00000345514.2_Silent_p.P9P|BCL11B_ENST00000443726.2_Silent_p.P9P NM_001282237.1|NM_138576.2 NP_001269166.1|NP_612808.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 9.0 alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538) nucleus (GO:0005634) metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) 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) 34.0 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) ACAAGTGCTGCGGGTTGCCCT 0.701 T TLX3 T-ALL Dom yes 14 14q32.1 64919.0 B-cell CLL/lymphoma 11B (CTIP2) L 0 21.0 20.0 20.0 14 99737529.0 2203.0 4298.0 6501.0 SO:0001819 synonymous_variant AJ404614 CCDS9949.1, CCDS9950.1 14q32 2013-01-08 ENSG00000127152 ENSG00000127152 64919.0 64919.0 """Zinc fingers, C2H2-type""" 13222.0 protein-coding gene gene with protein product 606558 ZNF856B 11719382, 16950772 Standard NM_138576 NM_138576 Approved CTIP-2, CTIP2, hRIT1-alpha uc001yga.3 Q9C0K0 OTTHUMG00000028967 ENST00000357195.3:c.27G>C 14.__UNKNOWN__:g.99737529C>G Q9H162 __UNKNOWN__ CCDS9950.1 BCL11B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000072332.2 - ENST00000357195.3 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV ZNHIT1 10467 broad.mit.edu 37 7 100865908 100865908 + Missense_Mutation SNP C C T TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr7:100865908C>T ENST00000305105.2 + 2.0 574 c.46C>T c.(46-48)Cgg>Tgg p.R16W ZNHIT1_ENST00000492315.1_3'UTR NM_006349.2 NP_006340.1 O43257 ZNHI1_HUMAN zinc finger, HIT-type containing 1 16.0 negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129) nucleus (GO:0005634) chromatin binding (GO:0003682)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2) 11.0 Lung NSC(181;0.168)|all_lung(186;0.215) CCCCGGGCAGCGGCGGGTGCT 0.682 0 42.0 52.0 49.0 7 100865908.0 2199.0 4295.0 6494.0 SO:0001583 missense AF093571 CCDS5716.1 7q22.1 2010-09-15 2010-09-15 2003-08-08 ENSG00000106400 ENSG00000106400 10467.0 10467.0 """Zinc fingers, HIT-type""" 21688.0 protein-coding gene gene with protein product """putative cyclin G1 interacting protein""" """zinc finger protein, subfamily 4A (HIT domain containing), member 1"", ""zinc finger, HIT domain containing 1""" ZNFN4A1 Standard NM_006349 NM_006349 Approved CG1I, H_DJ0747G18.14 uc003uye.3 O43257 OTTHUMG00000157113 ENST00000305105.2:c.46C>T 7.__UNKNOWN__:g.100865908C>T ENSP00000304593:p.Arg16Trp Q6IB12 __UNKNOWN__ CCDS5716.1 . . . . . . . . . . C 23.8 4.459654 0.84317 . . ENSG00000106400 ENST00000305105 . . . 4.75 3.84 0.44239 . 0.064506 0.64402 D 0.000009 T 0.59797 0.2220 L 0.55990 1.75 0.58432 D 0.999999 D 0.71674 0.998 P 0.50162 0.633 T 0.63695 -0.6579 9 0.66056 D 0.02 -28.7465 12.107 0.53818 0.1731:0.8269:0.0:0.0 . 16 O43257 ZNHI1_HUMAN W 16 . ENSP00000304593:R16W R + 1 2 ZNHIT1 100652628 1.000000 0.71417 1.000000 0.80357 0.939000 0.58152 4.378000 0.59568 1.080000 0.41073 0.478000 0.44815 CGG ZNHIT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347488.1 + ENST00000305105.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV ITPR3 3710 broad.mit.edu 37 6 33652604 33652604 + Missense_Mutation SNP G G A TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr6:33652604G>A ENST00000374316.5 + 40.0 6251 c.5191G>A c.(5191-5193)Gag>Aag p.E1731K ITPR3_ENST00000605930.1_Missense_Mutation_p.E1731K Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 1731.0 activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235) inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091) 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) 85.0 Caffeine(DB00201) GCTGGACAAGGAGGGGGCCAC 0.627 0 64.0 64.0 64.0 6 33652604.0 2203.0 4300.0 6503.0 SO:0001583 missense D26351 CCDS4783.1 6p21.31 2011-11-24 2011-04-28 ENSG00000096433 ENSG00000096433 3710.0 3710.0 """Ion channels / Inositol triphosphate receptors""" 6182.0 protein-coding gene gene with protein product 147267 """inositol 1,4,5-triphosphate receptor, type 3""" 8081734, 8288584 Standard NM_002224 NM_002224 Approved IP3R3 uc021ywr.1 Q14573 OTTHUMG00000014532 ENST00000374316.5:c.5191G>A 6.__UNKNOWN__:g.33652604G>A ENSP00000363435:p.Glu1731Lys Q14649|Q5TAQ2 __UNKNOWN__ CCDS4783.1 . . . . . . . . . . G 32 5.109557 0.94292 . . ENSG00000096433 ENST00000374316 D 0.86164 -2.08 5.79 5.79 0.91817 . 0.000000 0.85682 D 0.000000 T 0.80019 0.4547 M 0.64997 1.995 0.80722 D 1 B 0.31989 0.35 B 0.29663 0.105 T 0.79112 -0.1937 10 0.36615 T 0.2 -40.71 15.5016 0.75703 0.0:0.1377:0.8623:0.0 . 1731 Q14573 ITPR3_HUMAN K 1731 ENSP00000363435:E1731K ENSP00000363435:E1731K E + 1 0 ITPR3 33760582 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.752000 0.85141 2.735000 0.93741 0.655000 0.94253 GAG ITPR3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040204.2 + ENST00000374316.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV TAS2R3 50831 broad.mit.edu 37 7 141464342 141464342 + Silent SNP G G A TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr7:141464342G>A ENST00000247879.2 + 1.0 446 c.384G>A c.(382-384)agG>agA p.R128R SSBP1_ENST00000465582.1_Intron NM_016943.2 NP_058639.1 Q9NYW6 TA2R3_HUMAN taste receptor, type 2, member 3 128.0 detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5) 14.0 Melanoma(164;0.0171) GAGTTTCTAGGGTGATGGTAT 0.483 0 225.0 202.0 210.0 7 141464342.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF227130 CCDS5867.1 7q31.3-q32 2012-08-22 ENSG00000127362 ENSG00000127362 50831.0 50831.0 """Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors""" 14910.0 protein-coding gene gene with protein product 604868 Standard NM_016943 Approved T2R3 uc003vwp.1 Q9NYW6 OTTHUMG00000157637 ENST00000247879.2:c.384G>A 7.__UNKNOWN__:g.141464342G>A A4D1U2|Q645W2|Q75MV6 __UNKNOWN__ CCDS5867.1 TAS2R3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000349288.1 + ENST00000247879.2 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV MUC17 140453 broad.mit.edu 37 7 100685415 100685415 + Missense_Mutation SNP A A T TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr7:100685415A>T ENST00000306151.4 + 3.0 10782 c.10718A>T c.(10717-10719)gAa>gTa p.E3573V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3573.0 59 X approximate tandem repeats.|Ser-rich. cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) 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) 343.0 Lung NSC(181;0.136)|all_lung(186;0.182) ACTCCAAGTGAAGGAAGCTCT 0.468 0 197.0 196.0 196.0 7 100685415.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453.0 140453.0 """Mucins""" 16800.0 protein-coding gene gene with protein product 608424 11855812 Standard NM_001040105 NM_001040105 Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.10718A>T 7.__UNKNOWN__:g.100685415A>T ENSP00000302716:p.Glu3573Val O14761|Q685J2|Q8TDH7 __UNKNOWN__ CCDS34711.1 . . . . . . . . . . a 8.193 0.796348 0.16327 . . ENSG00000169876 ENST00000306151 T 0.02158 4.42 1.34 1.34 0.21922 . . . . . T 0.03564 0.0102 N 0.14661 0.345 0.09310 N 1 P 0.47604 0.898 D 0.72982 0.979 T 0.49762 -0.8905 9 0.29301 T 0.29 . 3.4345 0.07441 0.6412:0.0:0.0:0.3588 . 3573 Q685J3 MUC17_HUMAN V 3573 ENSP00000302716:E3573V ENSP00000302716:E3573V E + 2 0 MUC17 100472135 0.000000 0.05858 0.119000 0.21687 0.029000 0.11900 -2.111000 0.01333 0.584000 0.29591 0.165000 0.16767 GAA MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347161.1 + ENST00000306151.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV CTD-3222D19.2 10523 broad.mit.edu 37 19 16632349 16632349 + Silent SNP G G A TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr19:16632349G>A ENST00000409035.1 - 7.0 1738 CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000546361.2_Silent_p.H699H|CHERP_ENST00000198939.6_Silent_p.H710H p.H699Q(1) TGGGCCTGTCGTGGGACGGGG 0.672 1 Substitution - Missense(1) lung(1) 15.0 18.0 17.0 19 16632349.0 1886.0 4103.0 5989.0 SO:0001627 intron_variant ENST00000409035.1:c.1282-2186C>T 19.__UNKNOWN__:g.16632349G>A __UNKNOWN__ CTD-3222D19.2-001 KNOWN basic|appris_principal|readthrough_transcript|exp_conf nonsense_mediated_decay protein_coding OTTHUMT00000461092.1 - ENST00000409035.1 Intron SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV MPDZ 8777 broad.mit.edu 37 9 13190215 13190215 + Silent SNP T T C TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr9:13190215T>C ENST00000541718.1 - 16.0 2273 c.2052A>G c.(2050-2052)acA>acG p.T684T MPDZ_ENST00000546205.1_Silent_p.T684T|MPDZ_ENST00000381015.4_Silent_p.T684T|MPDZ_ENST00000447879.1_Silent_p.T684T|MPDZ_ENST00000536827.1_Silent_p.T684T|MPDZ_ENST00000381022.2_Silent_p.T684T|MPDZ_ENST00000319217.7_Silent_p.T684T NM_001261407.1|NM_003829.4 NP_001248336.1|NP_003820.2 O75970 MPDZ_HUMAN multiple PDZ domain protein 684.0 cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032) apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923) protein C-terminus binding (GO:0008022) 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) 61.0 GBM - Glioblastoma multiforme(50;2.03e-06) GAACCTCTTCTGTACTCTGAC 0.488 0 79.0 75.0 76.0 9 13190215.0 2072.0 4217.0 6289.0 SO:0001819 synonymous_variant AF093419 CCDS47951.1, CCDS59119.1, CCDS59120.1 9p23 2008-05-15 ENSG00000107186 ENSG00000107186 8777.0 8777.0 7208.0 protein-coding gene gene with protein product 603785 Standard NM_003829 NM_003829 Approved MUPP1 uc003zlb.4 O75970 OTTHUMG00000021031 ENST00000541718.1:c.2052A>G 9.__UNKNOWN__:g.13190215T>C A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790 __UNKNOWN__ CCDS47951.1 MPDZ-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000401076.1 - ENST00000541718.1 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV MPHOSPH9 10198 broad.mit.edu 37 12 123706152 123706152 + Silent SNP T T C TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr12:123706152T>C ENST00000606320.1 - 5.0 845 c.639A>G c.(637-639)aaA>aaG p.K213K MPHOSPH9_ENST00000302349.5_Silent_p.K61K|MPHOSPH9_ENST00000541076.2_Silent_p.K183K|MPHOSPH9_ENST00000392425.3_Silent_p.K61K Q99550 MPP9_HUMAN M-phase phosphoprotein 9 213.0 centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33.0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) CCTTAGGGTCTTTAGATTTGT 0.438 0 116.0 116.0 116.0 12 123706152.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X98258 CCDS9243.1, CCDS9243.2 12q24 2008-03-03 ENSG00000051825 ENSG00000051825 10198.0 10198.0 7215.0 protein-coding gene gene with protein product 605501 8885239 Standard NM_022782 Approved MPP9 uc001uel.3 Q99550 OTTHUMG00000168849 ENST00000606320.1:c.639A>G 12.__UNKNOWN__:g.123706152T>C A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28 __UNKNOWN__ . . . . . . . . . . T 0.117 -1.131127 0.01756 . . ENSG00000257076 ENST00000539336 . . . 5.1 -1.29 0.09288 . . . . . T 0.23846 0.0577 . . . 0.09310 N 0.999998 . . . . . . T 0.28332 -1.0047 4 . . . -12.0772 5.3311 0.15932 0.2291:0.4478:0.0:0.3231 . . . . G 71 . . R - 1 2 RP11-546D6.2 122272105 0.001000 0.12720 0.006000 0.13384 0.099000 0.18886 -0.169000 0.09911 -0.499000 0.06623 -0.952000 0.02654 AGA MPHOSPH9-030 NOVEL basic protein_coding protein_coding OTTHUMT00000471390.2 - ENST00000606320.1 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV GABRA4 2557 broad.mit.edu 37 4 46967155 46967155 + Missense_Mutation SNP G G T rs41301813 TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr4:46967155G>T ENST00000264318.3 - 8.0 1948 c.966C>A c.(964-966)ttC>ttA p.F322L 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 4 322.0 central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) 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) 45.0 Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897) AGACAGCTATGAACCAGTCCA 0.433 Ovarian(6;283 369 8234 12290 33402) 0 153.0 130.0 138.0 4 46967155.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS3473.1 4p12 2012-06-22 ENSG00000109158 ENSG00000109158 2557.0 2557.0 """GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors""" 4078.0 protein-coding gene gene with protein product """GABA(A) receptor, alpha 4""" 137141 7607683 Standard NM_000809 Approved uc021xnz.1 P48169 OTTHUMG00000099431 ENST00000264318.3:c.966C>A 4.__UNKNOWN__:g.46967155G>T ENSP00000264318:p.Phe322Leu Q8IYR7 __UNKNOWN__ CCDS3473.1 . . . . . . . . . . G 29.0 4.966040 0.92855 . . ENSG00000109158 ENST00000264318 D 0.86769 -2.17 4.81 3.97 0.46021 Neurotransmitter-gated ion-channel transmembrane domain (2); 0.000000 0.85682 D 0.000000 D 0.92113 0.7500 M 0.75447 2.3 0.58432 D 0.999992 D 0.69078 0.997 D 0.74348 0.983 D 0.92519 0.6023 10 0.87932 D 0 . 11.8776 0.52556 0.0836:0.0:0.9164:0.0 . 322 P48169 GBRA4_HUMAN L 322 ENSP00000264318:F322L ENSP00000264318:F322L F - 3 2 GABRA4 46661912 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.618000 0.67722 1.238000 0.43771 0.591000 0.81541 TTC GABRA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000216893.1 - ENST00000264318.3 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV ZNF777 27153 broad.mit.edu 37 7 149152905 149152905 + Missense_Mutation SNP C C T TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr7:149152905C>T ENST00000247930.4 - 2.0 532 c.209G>A c.(208-210)cGg>cAg p.R70Q NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 70.0 R -> W (in dbSNP:rs3735318). regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26.0 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) ATGTGGCATCCGGCCAGAAGT 0.577 0 81.0 89.0 87.0 7 149152905.0 1901.0 4124.0 6025.0 SO:0001583 missense AB033111 CCDS43675.1 7q36.1 2013-01-08 ENSG00000196453 ENSG00000196453 27153.0 27153.0 """Zinc fingers, C2H2-type"", ""-""" 22213.0 protein-coding gene gene with protein product Standard NM_015694 NM_015694 Approved KIAA1285 uc003wfv.3 Q9ULD5 OTTHUMG00000158967 ENST00000247930.4:c.209G>A 7.__UNKNOWN__:g.149152905C>T ENSP00000247930:p.Arg70Gln Q8N2R2|Q8N659 __UNKNOWN__ CCDS43675.1 . . . . . . . . . . C 11.64 1.699987 0.30142 . . ENSG00000196453 ENST00000247930 T 0.05513 3.43 4.66 3.56 0.40772 . 0.386982 0.19111 N 0.122454 T 0.03783 0.0107 N 0.14661 0.345 0.20196 N 0.999928 B 0.06786 0.001 B 0.04013 0.001 T 0.41395 -0.9511 10 0.33940 T 0.23 -5.1325 6.4528 0.21914 0.0:0.8167:0.0:0.1833 . 70 Q9ULD5-2 . Q 70 ENSP00000247930:R70Q ENSP00000247930:R70Q R - 2 0 ZNF777 148783838 0.503000 0.26115 0.993000 0.49108 0.890000 0.51754 0.571000 0.23669 0.678000 0.31325 0.462000 0.41574 CGG ZNF777-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352708.1 - ENST00000247930.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV CIC 23152 broad.mit.edu 37 19 42791285 42791285 + Silent SNP G G T TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr19:42791285G>T ENST00000572681.2 + 4.0 3140 c.3072G>T c.(3070-3072)ggG>ggT p.G1024G CIC_ENST00000575354.2_Silent_p.G115G|CIC_ENST00000160740.3_Silent_p.G115G Q96RK0 CIC_HUMAN capicua transcriptional repressor 115.0 Pro-rich. regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) 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) 82.0 Prostate(69;0.00682) ACCCTTTGGGGGTGGTGGAAT 0.682 """Mis, F, S""" oligodendroglioma Rec yes 19 19q13.2 23152.0 capicua homolog O 0 20.0 28.0 25.0 19 42791285.0 2191.0 4292.0 6483.0 SO:0001819 synonymous_variant AB002304 CCDS12601.1 19q13.2 2013-03-15 2013-03-15 ENSG00000079432 ENSG00000079432 23152.0 23152.0 14214.0 protein-coding gene gene with protein product 612082 """capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)""" 12393275, 15981098 Standard NM_015125 Approved KIAA0306 uc002otf.1 Q96RK0 ENST00000572681.2:c.3072G>T 19.__UNKNOWN__:g.42791285G>T Q7LGI1|Q9UEG5|Q9Y6T1 __UNKNOWN__ CIC-002 NOVEL NAGNAG_splice_site|not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000438528.3 + ENST00000572681.2 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV TACC3 10460 broad.mit.edu 37 4 1732665 1732665 + Silent SNP C C T TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr4:1732665C>T ENST00000313288.4 + 5.0 1543 c.1437C>T c.(1435-1437)gcC>gcT p.A479A NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 479.0 astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666) centrosome (GO:0005813)|cytoplasm (GO:0005737) central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25.0 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) AGTTGGCAGCCGAGACCCCAA 0.632 Ovarian(120;482 2294 11894 35824) 0 68.0 61.0 63.0 4 1732665.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF093543 CCDS3352.1 4p16.3 2008-07-29 ENSG00000013810 ENSG00000013810 10460.0 10460.0 11524.0 protein-coding gene gene with protein product 605303 17675670 Standard NM_006342 Approved ERIC1 uc003gdo.3 Q9Y6A5 OTTHUMG00000089535 ENST00000313288.4:c.1437C>T 4.__UNKNOWN__:g.1732665C>T Q2NKK4|Q3KQS5|Q9UMQ1 __UNKNOWN__ CCDS3352.1 . . . . . . . . . . C 3.360 -0.130730 0.06753 . . ENSG00000013810 ENST00000343760;ENST00000470136 . . . 3.59 -7.19 0.01500 . . . . . . . . . . . 0.09310 N 1 . . . . . . . . . . 0.02654 T 1 -0.076 1.9057 0.03276 0.1733:0.3509:0.2702:0.2056 . . . . X 120;146 . ENSP00000345465:R120X R + 1 2 TACC3 1702463 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -5.656000 0.00106 -3.078000 0.00251 -1.155000 0.01812 CGA TACC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000203730.2 + ENST00000313288.4 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV NLRP12 91662 broad.mit.edu 37 19 54314500 54314500 + Missense_Mutation SNP C C T TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr19:54314500C>T ENST00000324134.6 - 3.0 581 c.413G>A c.(412-414)cGg>cAg p.R138Q NLRP12_ENST00000351894.4_Missense_Mutation_p.R138Q|NLRP12_ENST00000391773.1_Missense_Mutation_p.R138Q|NLRP12_ENST00000391772.1_Missense_Mutation_p.R138Q|NLRP12_ENST00000391775.3_Missense_Mutation_p.R138Q|NLRP12_ENST00000354278.3_Missense_Mutation_p.R138Q|NLRP12_ENST00000535162.1_Missense_Mutation_p.R138Q|NLRP12_ENST00000345770.5_Missense_Mutation_p.R138Q NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 138.0 activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165) cytoplasm (GO:0005737) ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656) 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) 80.0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TTCCATGAGCCGGAATTTCCT 0.552 0 89.0 87.0 87.0 19 54314500.0 2203.0 4300.0 6503.0 SO:0001583 missense AY095146 CCDS12864.1, CCDS62784.1, CCDS62785.1 19q13.42 2014-09-17 2006-12-08 2006-12-08 ENSG00000142405 ENSG00000142405 91662.0 91662.0 """Nucleotide-binding domain and leucine rich repeat containing""" 22938.0 protein-coding gene gene with protein product """nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12""" 609648 """NACHT, leucine rich repeat and PYD containing 12""" NALP12 12563287, 12019269 Standard NM_144687 NM_001277129 Approved RNO2, PYPAF7, Monarch1, PAN6, CLR19.3 uc002qcj.5 P59046 OTTHUMG00000060776 ENST00000324134.6:c.413G>A 19.__UNKNOWN__:g.54314500C>T ENSP00000319377:p.Arg138Gln A8MTQ2|B3KTE7|Q8NEU4|Q9BY26 __UNKNOWN__ CCDS12864.1 . . . . . . . . . . C 7.934 0.741215 0.15642 . . ENSG00000142405 ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772 D;D;D;D;D;D;D 0.86562 -2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14 4.47 -0.42 0.12336 . 0.192676 0.25601 N 0.029547 T 0.66963 0.2843 N 0.25890 0.77 0.50313 D 0.999864 P;B;B;B 0.35050 0.482;0.246;0.246;0.293 B;B;B;B 0.18871 0.023;0.013;0.013;0.017 T 0.56956 -0.7893 10 0.10636 T 0.68 . 3.9174 0.09228 0.158:0.4792:0.0:0.3627 . 138;138;138;138 F2Z321;A8K407;A8MTQ2;P59046 .;.;.;NAL12_HUMAN Q 138 ENSP00000319377:R138Q;ENSP00000438030:R138Q;ENSP00000340473:R138Q;ENSP00000346231:R138Q;ENSP00000375655:R138Q;ENSP00000375653:R138Q;ENSP00000375652:R138Q ENSP00000319377:R138Q R - 2 0 NLRP12 59006312 0.000000 0.05858 0.844000 0.33320 0.862000 0.49288 -0.171000 0.09883 -0.134000 0.11516 0.306000 0.20318 CGG NLRP12-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000134340.1 - ENST00000324134.6 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV FHL1 2273 broad.mit.edu 37 X 135288722 135288722 + Missense_Mutation SNP G G A rs11557264 TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chrX:135288722G>A ENST00000370683.1 + 2.0 519 c.179G>A c.(178-180)cGc>cAc p.R60H FHL1_ENST00000535737.1_Missense_Mutation_p.R44H|FHL1_ENST00000394153.2_Missense_Mutation_p.R44H|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000539015.1_Missense_Mutation_p.R73H|FHL1_ENST00000370676.3_Missense_Mutation_p.R60H|FHL1_ENST00000370690.3_Missense_Mutation_p.R44H|FHL1_ENST00000394155.2_Missense_Mutation_p.R44H|FHL1_ENST00000345434.3_Missense_Mutation_p.R44H|FHL1_ENST00000543669.1_Missense_Mutation_p.R44H NM_001159699.1 NP_001153171.1 Q13642 FHL1_HUMAN four and a half LIM domains 1 44.0 LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}. cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ion channel binding (GO:0044325)|zinc ion binding (GO:0008270) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19.0 Acute lymphoblastic leukemia(192;0.000127) GTGGAATGCCGCAAGCCCATC 0.562 0 177.0 157.0 164.0 X 135288722.0 2203.0 4300.0 6503.0 SO:0001583 missense U60115 CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1 Xq26.3 2014-09-17 ENSG00000022267 ENSG00000022267 2273.0 2273.0 3702.0 protein-coding gene gene with protein product """Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER""" 300163 8753811, 9714789 Standard NM_001449 NM_001449 Approved SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107 uc004ezo.3 Q13642 OTTHUMG00000022504 ENST00000370683.1:c.179G>A X.__UNKNOWN__:g.135288722G>A ENSP00000359717:p.Arg60His B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630 __UNKNOWN__ CCDS55506.1 . . . . . . . . . . G 15.34 2.804089 0.50315 . . ENSG00000022267 ENST00000394155;ENST00000370690;ENST00000536581;ENST00000420362;ENST00000458357;ENST00000535737;ENST00000452016;ENST00000434885;ENST00000543669;ENST00000394153;ENST00000456445;ENST00000456218;ENST00000449474;ENST00000345434;ENST00000539015;ENST00000370683;ENST00000370676;ENST00000542704;ENST00000370674 D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D 0.87179 -2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22 5.46 5.46 0.80206 Zinc finger, LIM-type (5); 0.051961 0.64402 D 0.000002 T 0.79857 0.4518 L 0.28458 0.855 0.39248 D 0.963978 B;B;B;B 0.25206 0.006;0.12;0.102;0.12 B;B;B;B 0.24541 0.013;0.054;0.047;0.054 T 0.76892 -0.2791 10 0.33141 T 0.24 . 12.0453 0.53477 0.0918:0.0:0.9082:0.0 . 73;60;60;44 B7Z793;Q5JXI2;B7Z5T4;Q13642 .;.;.;FHL1_HUMAN H 44;44;24;44;44;44;44;44;44;44;44;84;44;44;73;60;60;60;44 ENSP00000377710:R44H;ENSP00000359724:R44H;ENSP00000391779:R44H;ENSP00000389920:R44H;ENSP00000444815:R44H;ENSP00000408038:R44H;ENSP00000413798:R44H;ENSP00000443333:R44H;ENSP00000377709:R44H;ENSP00000412642:R44H;ENSP00000414604:R44H;ENSP00000071281:R44H;ENSP00000437673:R73H;ENSP00000359717:R60H;ENSP00000359710:R60H;ENSP00000359708:R44H ENSP00000071281:R44H R + 2 0 FHL1 135116388 1.000000 0.71417 1.000000 0.80357 0.956000 0.61745 2.002000 0.40835 2.270000 0.75569 0.600000 0.82982 CGC FHL1-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058463.1 + ENST00000370683.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV LAMC1 3915 broad.mit.edu 37 1 183099545 183099545 + Missense_Mutation SNP G G A TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr1:183099545G>A ENST00000258341.4 + 19.0 3604 c.3347G>A c.(3346-3348)cGt>cAt p.R1116H NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 1116.0 Domain II and I. R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}. axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446) basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260) extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208) p.R1116H(1) 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) 76.0 CAAATTAGCCGTTTACAGAAT 0.428 1 Substitution - Missense(1) large_intestine(1) 90.0 85.0 87.0 1 183099545.0 2203.0 4300.0 6503.0 SO:0001583 missense J03202 CCDS1351.1 1q31 2013-03-01 ENSG00000135862 ENSG00000135862 3915.0 3915.0 """Laminins""" 6492.0 protein-coding gene gene with protein product 150290 LAMB2 3234037 Standard NM_002293 NM_002293 Approved uc001gpy.4 P11047 OTTHUMG00000035418 ENST00000258341.4:c.3347G>A 1.__UNKNOWN__:g.183099545G>A ENSP00000258341:p.Arg1116His Q5VYE7 __UNKNOWN__ CCDS1351.1 . . . . . . . . . . G 26.7 4.758222 0.89843 . . ENSG00000135862 ENST00000258341 T 0.22134 1.97 4.94 4.94 0.65067 . 0.051539 0.64402 D 0.000001 T 0.42063 0.1186 M 0.70275 2.135 0.80722 D 1 D 0.89917 1.0 D 0.64410 0.925 T 0.23833 -1.0177 10 0.11794 T 0.64 . 18.1104 0.89533 0.0:0.0:1.0:0.0 . 1116 P11047 LAMC1_HUMAN H 1116 ENSP00000258341:R1116H ENSP00000258341:R1116H R + 2 0 LAMC1 181366168 1.000000 0.71417 0.979000 0.43373 0.993000 0.82548 8.171000 0.89675 2.442000 0.82660 0.561000 0.74099 CGT LAMC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000085954.2 + ENST00000258341.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV BATF 10538 broad.mit.edu 37 14 76012949 76012949 + Missense_Mutation SNP G G A TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr14:76012949G>A ENST00000286639.6 + 3.0 571 c.313G>A c.(313-315)Gag>Aag p.E105K BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Intron NM_006399.3 NP_006390.1 Q16520 BATF_HUMAN basic leucine zipper transcription factor, ATF-like 105.0 cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) large_intestine(1)|ovary(1)|skin(1) 3.0 BRCA - Breast invasive adenocarcinoma(234;0.028) CTCGCCCCCCGAGGTGGTGTA 0.657 0 37.0 28.0 31.0 14 76012949.0 2200.0 4300.0 6500.0 SO:0001583 missense AF016898 CCDS9843.1 14q24 2013-01-10 ENSG00000156127 10538.0 10538.0 """basic leucine zipper proteins""" 958.0 protein-coding gene gene with protein product """activating transcription factor B"", ""SF-HT-activated gene 2""" 612476 8570175, 8630063 Standard NM_006399 NM_006399 Approved B-ATF, SFA-2, BATF1 uc001xrr.3 Q16520 ENST00000286639.6:c.313G>A 14.__UNKNOWN__:g.76012949G>A ENSP00000286639:p.Glu105Lys __UNKNOWN__ CCDS9843.1 . . . . . . . . . . G 18.56 3.650912 0.67472 . . ENSG00000156127 ENST00000286639 T 0.78481 -1.18 5.33 5.33 0.75918 . 0.153676 0.56097 D 0.000025 T 0.64114 0.2569 L 0.27053 0.805 0.80722 D 1 D 0.57899 0.981 B 0.39419 0.299 T 0.64141 -0.6477 10 0.11485 T 0.65 -1.5992 17.2289 0.86979 0.0:0.0:1.0:0.0 . 105 Q16520 BATF_HUMAN K 105 ENSP00000286639:E105K ENSP00000286639:E105K E + 1 0 BATF 75082702 1.000000 0.71417 1.000000 0.80357 0.190000 0.23558 8.127000 0.89593 2.495000 0.84180 0.655000 0.94253 GAG BATF-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000413669.1 + ENST00000286639.6 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV GAA 2548 broad.mit.edu 37 17 78083827 78083827 + Silent SNP C C T TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr17:78083827C>T ENST00000302262.3 + 9.0 1629 c.1410C>T c.(1408-1410)aaC>aaT p.N470N GAA_ENST00000390015.3_Silent_p.N470N NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 470.0 cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181) extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020) alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450) 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) 21.0 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284)|Miglitol(DB00491) TCATCACCAACGAGACCGGCC 0.667 0 31.0 37.0 35.0 17 78083827.0 2200.0 4300.0 6500.0 SO:0001819 synonymous_variant CCDS32760.1 17q25.2-q25.3 2014-09-17 2008-08-01 2548.0 2548.0 3.2.1.20 4065.0 protein-coding gene gene with protein product """Pompe disease"", ""glycogen storage disease type II""" 606800 Standard NM_000152 Approved uc002jxq.3 P10253 ENST00000302262.3:c.1410C>T 17.__UNKNOWN__:g.78083827C>T Q09GN4|Q14351|Q16302|Q8IWE7 __UNKNOWN__ CCDS32760.1 GAA-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000437441.1 + ENST00000302262.3 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV CORO7 79585 broad.mit.edu 37 16 4408410 4408410 + Silent SNP C C T TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr16:4408410C>T ENST00000251166.4 - 24.0 2560 c.2415G>A c.(2413-2415)caG>caA p.Q805Q CORO7_ENST00000539968.1_Silent_p.Q585Q|CORO7-PAM16_ENST00000572467.1_Silent_p.Q805Q|CORO7_ENST00000574025.1_Silent_p.Q720Q|CORO7_ENST00000537233.2_Silent_p.Q787Q|CORO7-PAM16_ENST00000572274.1_5'UTR NM_024535.4 NP_078811.3 P57737 CORO7_HUMAN coronin 7 805.0 actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031) cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802) actin binding (GO:0003779) breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23.0 CCAGGGAGGACTGACGCAGCC 0.697 0 29.0 30.0 30.0 16 4408410.0 2196.0 4295.0 6491.0 SO:0001819 synonymous_variant AK097238 CCDS10513.1, CCDS55982.1, CCDS58417.1 16p13.3 2013-01-10 ENSG00000262246 ENSG00000262246 79585.0 79585.0 """Coronins"", ""WD repeat domain containing""" 26161.0 protein-coding gene gene with protein product 611668 15327992 Standard NM_024535 NM_024535 Approved FLJ22021 P57737 OTTHUMG00000129465 ENST00000251166.4:c.2415G>A 16.__UNKNOWN__:g.4408410C>T B4DFD6|B4DL18|I3L416|Q17RK4 __UNKNOWN__ CCDS10513.1 CORO7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251628.2 - ENST00000251166.4 Silent SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV TRHDE 29953 broad.mit.edu 37 12 73046874 73046874 + Missense_Mutation SNP T T A TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr12:73046874T>A ENST00000261180.4 + 17.0 2883 c.2787T>A c.(2785-2787)aaT>aaA p.N929K NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 929.0 cell-cell signaling (GO:0007267)|signal transduction (GO:0007165) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) 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) 79.0 TAGCTCGAAATCCACATGGTC 0.353 0 86.0 83.0 84.0 12 73046874.0 2203.0 4300.0 6503.0 SO:0001583 missense AF126372 CCDS9004.1 12q15-q21 2012-07-25 2005-08-09 ENSG00000072657 29953.0 29953.0 3.4.19.6 30748.0 protein-coding gene gene with protein product """pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase""" 606950 10491199, 12975309 Standard NM_013381 NM_013381 Approved PGPEP2, TRH-DE, PAP-II uc001sxa.3 Q9UKU6 ENST00000261180.4:c.2787T>A 12.__UNKNOWN__:g.73046874T>A ENSP00000261180:p.Asn929Lys A5PL19|Q6UWJ4 __UNKNOWN__ CCDS9004.1 . . . . . . . . . . T 22.2 4.261817 0.80358 . . ENSG00000072657 ENST00000261180 T 0.06849 3.25 5.47 5.47 0.80525 . 0.000000 0.85682 D 0.000000 T 0.30230 0.0758 M 0.85777 2.775 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 T 0.04029 -1.0983 10 0.54805 T 0.06 . 9.9807 0.41811 0.0:0.0755:0.0:0.9245 . 929 Q9UKU6 TRHDE_HUMAN K 929 ENSP00000261180:N929K ENSP00000261180:N929K N + 3 2 TRHDE 71333141 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 3.765000 0.55272 2.087000 0.62958 0.533000 0.62120 AAT TRHDE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405380.1 + ENST00000261180.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV TGDS 23483 broad.mit.edu 37 13 95235377 95235377 + Missense_Mutation SNP C C T TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr13:95235377C>T ENST00000261296.5 - 5.0 547 c.427G>A c.(427-429)Gat>Aat p.D143N TGDS_ENST00000498294.1_5'UTR NM_014305.2 NP_055120.1 O95455 TGDS_HUMAN TDP-glucose 4,6-dehydratase 143.0 nucleotide-sugar metabolic process (GO:0009225) coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8.0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) TATACTTCATCTGTGCTGACA 0.373 0 150.0 139.0 142.0 13 95235377.0 2203.0 4300.0 6503.0 SO:0001583 missense AF048686 CCDS9471.1 13q32.1 2012-02-22 ENSG00000088451 ENSG00000088451 23483.0 23483.0 4.2.1.46 """Short chain dehydrogenase/reductase superfamily / Extended SDR fold""" 20324.0 protein-coding gene gene with protein product """short chain dehydrogenase/reductase family 2E, member 1""" 19027726 Standard NM_014305 NM_014305 Approved TDPGD, SDR2E1 uc001vlw.3 O95455 OTTHUMG00000046308 ENST00000261296.5:c.427G>A 13.__UNKNOWN__:g.95235377C>T ENSP00000261296:p.Asp143Asn Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9 __UNKNOWN__ CCDS9471.1 . . . . . . . . . . C 32 5.127495 0.94473 . . ENSG00000088451 ENST00000261296 D 0.93659 -3.26 5.76 5.76 0.90799 NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1); 0.107609 0.64402 D 0.000007 D 0.98128 0.9382 H 0.96691 3.865 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.98623 1.0668 10 0.87932 D 0 . 20.3242 0.98691 0.0:1.0:0.0:0.0 . 143 O95455 TGDS_HUMAN N 143 ENSP00000261296:D143N ENSP00000261296:D143N D - 1 0 TGDS 94033378 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.947000 0.70242 2.882000 0.98803 0.655000 0.94253 GAT TGDS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000106904.2 - ENST00000261296.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV SETD2 29072 broad.mit.edu 37 3 47103836 47103836 + Splice_Site SNP G G C TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr3:47103836G>C ENST00000409792.3 - 14.0 6152 c.6110C>G c.(6109-6111)aCa>aGa p.T2037R SETD2_ENST00000492397.1_5'UTR NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2037.0 angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368) chromosome (GO:0005694)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024) 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) 141.0 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) TCGTTCAGTTGCTAAGGGAAA 0.393 """N, F, S, Mis""" clear cell renal carcinoma Rec yes 3 3p21.31 29072.0 SET domain containing 2 E 0 181.0 183.0 182.0 3 47103836.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AJ238403 CCDS2749.2 3p21.31 2014-09-17 ENSG00000181555 ENSG00000181555 29072.0 29072.0 """Chromatin-modifying enzymes / K-methyltransferases""" 18420.0 protein-coding gene gene with protein product 612778 16118227, 11461154 Standard NM_014159 NM_014159 Approved HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A uc003cqs.3 Q9BYW2 OTTHUMG00000133514 ENST00000409792.3:c.6110-1C>G 3.__UNKNOWN__:g.47103836G>C O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9 __UNKNOWN__ CCDS2749.2 . . . . . . . . . . G 5.763 0.325142 0.10900 . . ENSG00000181555 ENST00000451092;ENST00000409792 D 0.87887 -2.31 4.77 0.95 0.19572 . 0.965558 0.08488 N 0.938463 T 0.67906 0.2943 N 0.03608 -0.345 0.27428 N 0.9541 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.0 T 0.55698 -0.8100 10 0.12103 T 0.63 . 6.5005 0.22166 0.4809:0.0:0.519:0.0 . 2037;2037 F2Z317;Q9BYW2 .;SETD2_HUMAN R 2037 ENSP00000386759:T2037R ENSP00000386759:T2037R T - 2 0 SETD2 47078840 1.000000 0.71417 0.994000 0.49952 0.130000 0.20726 1.374000 0.34283 0.412000 0.25729 -0.693000 0.03709 ACA SETD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257479.2 Missense_Mutation - ENST00000409792.3 Splice_Site SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV FKBP9 11328 broad.mit.edu 37 7 33020059 33020059 + Missense_Mutation SNP G G C TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr7:33020059G>C ENST00000242209.4 + 5.0 956 c.787G>C c.(787-789)Gag>Cag p.E263Q AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Missense_Mutation_p.E125Q|FKBP9_ENST00000538336.1_Missense_Mutation_p.E316Q|FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000490776.2_Missense_Mutation_p.E31Q NM_001284343.1|NM_007270.3 NP_001271272.1|NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 263.0 chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789) calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755) central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39.0 GBM - Glioblastoma multiforme(11;0.0156) CATTTCCATTGAGAACAAGGT 0.468 0 150.0 140.0 144.0 7 33020059.0 2203.0 4300.0 6503.0 SO:0001583 missense AF089745 CCDS5439.1, CCDS64622.1, CCDS64623.1 7p11.1 2013-01-10 2002-08-29 ENSG00000122642 ENSG00000122642 11328.0 11328.0 """EF-hand domain containing""" 3725.0 protein-coding gene gene with protein product """FK506-binding protein 9 (63 kD)""" 12036304 Standard NM_007270 NM_007270 Approved FKBP60, FKBP63 uc003tdh.3 O95302 OTTHUMG00000097847 ENST00000242209.4:c.787G>C 7.__UNKNOWN__:g.33020059G>C ENSP00000242209:p.Glu263Gln B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9 __UNKNOWN__ CCDS5439.1 . . . . . . . . . . G 14.59 2.581244 0.46006 . . ENSG00000122642 ENST00000242209;ENST00000538336;ENST00000538443;ENST00000418354;ENST00000490776 T;T;T;T;T 0.55588 0.51;0.82;0.51;0.91;0.91 5.06 5.06 0.68205 . 0.113216 0.64402 D 0.000012 T 0.58850 0.2151 M 0.62088 1.915 0.47183 D 0.999348 P;P;B;P 0.43885 0.454;0.82;0.386;0.745 B;P;B;B 0.47626 0.079;0.552;0.175;0.28 T 0.54984 -0.8211 10 0.20046 T 0.44 -12.2962 18.4263 0.90610 0.0:0.0:1.0:0.0 . 31;316;263;263 B7Z1G9;B7Z6H3;O95302;B3KQQ0 .;.;FKBP9_HUMAN;. Q 263;316;125;31;31 ENSP00000242209:E263Q;ENSP00000439250:E316Q;ENSP00000437504:E125Q;ENSP00000391034:E31Q;ENSP00000441317:E31Q ENSP00000242209:E263Q E + 1 0 FKBP9 32986584 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 4.965000 0.63708 2.362000 0.80069 0.650000 0.86243 GAG FKBP9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000215137.1 + ENST00000242209.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV DNTT 1791 broad.mit.edu 37 10 98097935 98097935 + Missense_Mutation SNP C C T TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr10:98097935C>T ENST00000371174.2 + 11.0 1586 c.1484C>T c.(1483-1485)gCg>gTg p.A495V DNTT_ENST00000419175.1_Missense_Mutation_p.A494V P04053 TDT_HUMAN DNA nucleotidylexotransferase 495.0 Mediates interaction with DNTTIP2. DNA modification (GO:0006304) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27.0 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) GAAATTTTTGCGCATCTGGGA 0.333 0 119.0 118.0 119.0 10 98097935.0 2203.0 4300.0 6503.0 SO:0001583 missense AB046378 CCDS7447.1 10q23-q24 2013-05-21 2013-05-21 ENSG00000107447 ENSG00000107447 1791.0 1791.0 2.7.7.31 """DNA polymerases""" 2983.0 protein-coding gene gene with protein product """Terminal deoxynucleotidyltransferase""" 187410 """deoxynucleotidyltransferase, terminal""" Standard NM_004088 NM_004088 Approved TDT uc001kmf.3 P04053 OTTHUMG00000018832 ENST00000371174.2:c.1484C>T 10.__UNKNOWN__:g.98097935C>T ENSP00000360216:p.Ala495Val Q53FH1|Q5W103|Q96E50 __UNKNOWN__ CCDS7447.1 . . . . . . . . . . C 15.40 2.821842 0.50633 . . ENSG00000107447 ENST00000419175;ENST00000371174 T;T 0.47528 0.84;0.84 5.37 5.37 0.77165 DNA-directed DNA polymerase X (1); 0.146062 0.47093 D 0.000248 T 0.43612 0.1255 M 0.85197 2.74 0.38160 D 0.938996 P;P 0.48640 0.913;0.859 B;B 0.28784 0.094;0.043 T 0.57154 -0.7860 10 0.30854 T 0.27 -0.4285 11.9763 0.53094 0.1731:0.8269:0.0:0.0 . 494;495 P04053-2;P04053 .;TDT_HUMAN V 494;495 ENSP00000401169:A494V;ENSP00000360216:A495V ENSP00000360216:A495V A + 2 0 DNTT 98087925 0.997000 0.39634 1.000000 0.80357 0.946000 0.59487 2.398000 0.44486 2.679000 0.91253 0.655000 0.94253 GCG DNTT-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000049607.1 + ENST00000371174.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV RP11-458D21.5 100132406 broad.mit.edu 37 1 145293478 145293478 + Missense_Mutation SNP C C T TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr1:145293478C>T ENST00000468030.1 + 0.0 1233 NBPF10_ENST00000342960.5_Missense_Mutation_p.R25C|NBPF10_ENST00000369339.3_Missense_Mutation_p.R25C|NBPF10_ENST00000369338.1_Intron CGAGACATTGCGCCCCCAGCT 0.502 0 SO:0001624 3_prime_UTR_variant ENST00000468030.1:c.*180C>T 1.__UNKNOWN__:g.145293478C>T __UNKNOWN__ . . . . . . . . . . . 7.184 0.590223 0.13812 . . ENSG00000163386 ENST00000369339;ENST00000342960 T 0.03441 3.93 1.06 -1.21 0.09524 . . . . . T 0.01092 0.0036 L 0.51914 1.62 0.09310 N 1 B 0.10296 0.003 B 0.08055 0.003 T 0.44711 -0.9310 9 0.39692 T 0.17 . 3.9047 0.09177 0.0:0.4611:0.0:0.5389 . 25 A8MQ30 . C 25 ENSP00000345684:R25C ENSP00000345684:R25C R + 1 0 NBPF10 144004835 0.000000 0.05858 0.000000 0.03702 0.005000 0.04900 -0.505000 0.06367 -0.464000 0.06963 0.184000 0.17185 CGC RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay protein_coding OTTHUMT00000038553.9 + ENST00000468030.1 3'UTR SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV LIN9 286826 broad.mit.edu 37 1 226453951 226453951 + Missense_Mutation SNP C C T TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr1:226453951C>T ENST00000328205.5 - 9.0 1492 c.947G>A c.(946-948)cGg>cAg p.R316Q LIN9_ENST00000481685.1_Missense_Mutation_p.R281Q|LIN9_ENST00000366801.1_Missense_Mutation_p.R265Q NM_173083.3 NP_775106.2 Q5TKA1 LIN9_HUMAN lin-9 DREAM MuvB core complex component 300.0 DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351) nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053) breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28.0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) ATAATGTAACCGTGGTGGGGT 0.343 Ovarian(197;1696 2974 11248 14117) 0 C GLN/ARG 1,4405 2.1+/-5.4 0,1,2202 66.0 65.0 66.0 947 4.0 1.0 1 66.0 0,8600 0,0,4300 no missense LIN9 NM_173083.2 43 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 probably-damaging 316/559 226453951.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AY166858 CCDS1553.1 1q42 2014-07-17 2014-07-17 ENSG00000183814 ENSG00000183814 286826.0 286826.0 30830.0 protein-coding gene gene with protein product """TUDOR gene similar"", ""rb related pathway actor""" 609375 """lin-9 homolog (C. elegans)""" 15538385, 23667535 Standard NM_173083 NM_173083 Approved TGS uc001hqa.3 Q5TKA1 OTTHUMG00000037557 ENST00000328205.5:c.947G>A 1.__UNKNOWN__:g.226453951C>T ENSP00000329102:p.Arg316Gln Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1 __UNKNOWN__ CCDS1553.1 . . . . . . . . . . C 19.05 3.752314 0.69533 2.27E-4 0.0 ENSG00000183814 ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807 . . . 5.83 3.97 0.46021 . 0.051200 0.85682 N 0.000000 T 0.68174 0.2972 M 0.64404 1.975 0.58432 D 0.999999 D;D;D 0.89917 0.998;0.999;1.0 P;P;D 0.76575 0.743;0.815;0.988 T 0.64685 -0.6349 9 0.10902 T 0.67 . 12.3055 0.54900 0.0:0.8641:0.0:0.1359 . 281;300;450 C9J5J4;Q5TKA1;B1ANK3 .;LIN9_HUMAN;. Q 276;316;371;265;281;450 . ENSP00000329102:R316Q R - 2 0 LIN9 224520574 1.000000 0.71417 1.000000 0.80357 0.787000 0.44495 6.776000 0.75023 0.824000 0.34613 -0.258000 0.10820 CGG LIN9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000091523.2 - ENST00000328205.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV ATRX 546 broad.mit.edu 37 X 76777841 76777841 + Frame_Shift_Del DEL G G - TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chrX:76777841delG ENST00000373344.5 - 32.0 7089 c.6875delC c.(6874-6876)ccafs p.P2292fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.P2254fs NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2292.0 ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270) 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) 145.0 GGTCCCAGTTGGTATGTTGAA 0.383 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome Rec yes X Xq21.1 546.0 alpha thalassemia/mental retardation syndrome X-linked yes E 0 86.0 81.0 83.0 X 76777841.0 2203.0 4296.0 6499.0 SO:0001589 frameshift_variant U72937 CCDS14434.1, CCDS14435.1 Xq21.1 2014-06-17 2010-06-24 ENSG00000085224 ENSG00000085224 546.0 546.0 886.0 protein-coding gene gene with protein product """RAD54 homolog (S. cerevisiae)""" 300032 """alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome""" RAD54, JMS 7874112, 1415255, 8503439, 8630485 Standard NM_000489 NM_000489 Approved XH2, XNP uc004ecp.4 P46100 OTTHUMG00000022686 ENST00000373344.5:c.6875delC X.__UNKNOWN__:g.76777841delG ENSP00000362441:p.Pro2292fs D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3 __UNKNOWN__ CCDS14434.1 ATRX-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000058860.2 - ENST00000373344.5 Frame_Shift_Del DEL PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV TPTE 7179 bcgsc.ca 37 21 10998287 10998287 + RNA SNP C C A TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq bf63b35c-ccf9-45f2-a1e8-01e06caf5d57 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr21:10998287C>A ENST00000415664.2 - 0.0 1265 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) 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) 130.0 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CACAGCTTCCCGCTCAGGACT 0.383 0 SO:0001623 5_prime_UTR_variant AF007118 CCDS74771.1, CCDS74772.1, CCDS74773.1 21p11 2011-06-09 ENSG00000166157 ENSG00000274391 7179.0 7179.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs""" 12023.0 protein-coding gene gene with protein product """PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44""" 604336 10830953, 14659893 Standard NM_001290224 Approved PTEN2, CT44 uc002yip.1 P56180 OTTHUMG00000074127 ENST00000415664.2:c.-2071G>T 21.__UNKNOWN__:g.10998287C>A B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8 __UNKNOWN__ TPTE-006 KNOWN basic processed_transcript protein_coding OTTHUMT00000340030.1 - ENST00000415664.2 5'UTR SNP PCPG-TCGA-SR-A6MX-Normal-SM-5EMNV HMCES 0 broad.mit.edu 37 3 129007830 129007830 + Missense_Mutation SNP G G T rs114856369 by1000genomes TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr3:129007830G>T ENST00000383463.4 + 3.0 406 c.317G>T c.(316-318)cGg>cTg p.R106L HMCES_ENST00000417226.2_Missense_Mutation_p.R106L|HMCES_ENST00000502878.2_Missense_Mutation_p.R106L|HMCES_ENST00000389735.3_Missense_Mutation_p.R106L NM_020187.2 NP_064572.2 Q96FZ2 HMCES_HUMAN 5-hydroxymethylcytosine (hmC) binding, ES cell-specific 106.0 DNA binding (GO:0003677)|peptidase activity (GO:0008233) ATGGAGAAACGGTCATTTAAG 0.468 0 113.0 100.0 104.0 3 129007830.0 2203.0 4300.0 6503.0 SO:0001583 missense AF201934 CCDS33852.1 3q21.3 2013-08-30 2013-08-30 2013-08-30 ENSG00000183624 ENSG00000183624 56941.0 56941.0 24446.0 protein-coding gene gene with protein product """SOS response associated peptidase domain containing 1""" """chromosome 3 open reading frame 37""" C3orf37 23434322, 23945014 Standard NM_020187 XM_005247636 Approved DC12, SRAPD1 uc003elt.3 Q96FZ2 OTTHUMG00000159452 ENST00000383463.4:c.317G>T 3.__UNKNOWN__:g.129007830G>T ENSP00000372955:p.Arg106Leu A6NJR9|Q96G34|Q9NRP3 __UNKNOWN__ CCDS33852.1 . . . . . . . . . . G 10.84 1.465485 0.26335 . . ENSG00000183624 ENST00000383463;ENST00000417226;ENST00000502878;ENST00000389735;ENST00000509551 . . . 5.12 -1.66 0.08265 . 0.831999 0.11135 N 0.595916 T 0.47544 0.1451 M 0.91300 3.195 0.09310 N 1 B;B 0.15141 0.012;0.004 B;B 0.17722 0.019;0.005 T 0.48603 -0.9021 9 0.30078 T 0.28 -4.5797 1.813 0.03094 0.4401:0.1251:0.2957:0.139 . 106;106 E7EMP6;Q96FZ2 .;CC037_HUMAN L 106 . ENSP00000372955:R106L R + 2 0 C3orf37 130490520 0.230000 0.23740 0.000000 0.03702 0.743000 0.42351 0.188000 0.17018 -0.735000 0.04837 -0.229000 0.12294 CGG HMCES-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355470.2 + ENST00000383463.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MY-Normal-SM-5EMLI CHRM4 1132 broad.mit.edu 37 11 46408059 46408059 + Missense_Mutation SNP G G A TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr11:46408059G>A ENST00000433765.2 - 1.0 48 c.49C>T c.(49-51)Cgc>Tgc p.R17C NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 17.0 adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165) cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) G-protein coupled acetylcholine receptor activity (GO:0016907) breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20.0 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246) GTGACCAGGCGCACGGACTGA 0.577 Esophageal Squamous(171;1020 1936 4566 30205 42542) 0 96.0 98.0 98.0 11 46408059.0 2139.0 4236.0 6375.0 SO:0001583 missense M16405 CCDS44581.1 11p12-p11.2 2012-08-08 ENSG00000180720 ENSG00000180720 1132.0 1132.0 """Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic""" 1953.0 protein-coding gene gene with protein product """acetylcholine receptor, muscarinic 4""" 118495 1577490 Standard NM_000741 NM_000741 Approved uc001nct.1 P08173 OTTHUMG00000154371 ENST00000433765.2:c.49C>T 11.__UNKNOWN__:g.46408059G>A ENSP00000409378:p.Arg17Cys B2RPP4|Q0VD60|Q4VBK7 __UNKNOWN__ CCDS44581.1 . . . . . . . . . . G 12.13 1.844857 0.32606 . . ENSG00000180720 ENST00000433765 T 0.59364 0.27 5.18 5.18 0.71444 . . . . . T 0.29093 0.0723 N 0.08118 0 0.36007 D 0.837771 P 0.43431 0.807 B 0.20955 0.032 T 0.47686 -0.9098 9 0.56958 D 0.05 . 11.1544 0.48478 0.0:0.0:0.8164:0.1836 . 17 P08173 ACM4_HUMAN C 17 ENSP00000409378:R17C ENSP00000409378:R17C R - 1 0 CHRM4 46364635 0.005000 0.15991 1.000000 0.80357 0.924000 0.55760 1.504000 0.35726 2.700000 0.92200 0.462000 0.41574 CGC CHRM4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000334985.1 - ENST00000433765.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MY-Normal-SM-5EMLI EPS8L2 64787 broad.mit.edu 37 11 721659 721659 + Missense_Mutation SNP A A G TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr11:721659A>G ENST00000533256.1 + 11.0 1238 c.863A>G c.(862-864)aAg>aGg p.K288R AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.K288R|EPS8L2_ENST00000526198.1_Missense_Mutation_p.K304R|EPS8L2_ENST00000318562.8_Missense_Mutation_p.K288R Q9H6S3 ES8L2_HUMAN EPS8-like 2 288.0 positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982) actin binding (GO:0003779) NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1) 13.0 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) CAGCGGAAAAAGGGGAAGAAG 0.657 0 35.0 45.0 42.0 11 721659.0 2197.0 4289.0 6486.0 SO:0001583 missense AF318331 CCDS31328.1 11p15.5 2008-02-05 ENSG00000177106 64787.0 64787.0 21296.0 protein-coding gene gene with protein product 614988 12620401 Standard NM_022772 NM_022772 Approved FLJ21935, FLJ22171, MGC3088 uc001lqt.3 Q9H6S3 ENST00000533256.1:c.863A>G 11.__UNKNOWN__:g.721659A>G ENSP00000435585:p.Lys288Arg B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9 __UNKNOWN__ CCDS31328.1 . . . . . . . . . . a 16.52 3.145185 0.57044 . . ENSG00000177106 ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198 T;T;T;T 0.49720 0.77;0.77;0.77;0.77 3.71 3.71 0.42584 . 0.154275 0.41294 D 0.000901 T 0.36524 0.0970 L 0.38175 1.15 0.42529 D 0.993032 B;P;B 0.37015 0.386;0.578;0.18 B;B;B 0.39258 0.075;0.295;0.044 T 0.10941 -1.0608 10 0.14656 T 0.56 -8.5646 11.8298 0.52288 1.0:0.0:0.0:0.0 . 304;332;288 B7ZKL3;B4DFD2;Q9H6S3 .;.;ES8L2_HUMAN R 288;288;288;304 ENSP00000320828:K288R;ENSP00000435585:K288R;ENSP00000436035:K288R;ENSP00000436230:K304R ENSP00000320828:K288R K + 2 0 EPS8L2 711659 1.000000 0.71417 0.994000 0.49952 0.183000 0.23260 3.717000 0.54911 1.700000 0.51204 0.524000 0.50904 AAG EPS8L2-003 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000382344.1 + ENST00000533256.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MY-Normal-SM-5EMLI HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr11:533874T>C ENST00000451590.1 - 3.0 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R NM_001130442.1|NM_005343.2 NP_001123914.1|NP_005334.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61.0 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022) p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901.0 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6.0 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) yes Dom yes Costello syndrome 11 11p15.5 3265.0 v-Ha-ras Harvey rat sarcoma viral oncogene homolog """E, L, M""" 256 Substitution - Missense(256) skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1) 117.0 102.0 107.0 11 533874.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Facio-Cutaneous-Skeletal syndrome AJ437024 CCDS7698.1, CCDS7699.1 11p15.5 2014-09-17 2013-07-08 ENSG00000174775 ENSG00000174775 3265.0 3265.0 5173.0 protein-coding gene gene with protein product 190020 """v-Ha-ras Harvey rat sarcoma viral oncogene homolog""" HRAS1 Standard NM_176795 NM_176795 Approved uc010qvx.2 P01112 OTTHUMG00000131919 ENST00000451590.1:c.182A>G 11.__UNKNOWN__:g.533874T>C ENSP00000407586:p.Gln61Arg B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2 __UNKNOWN__ CCDS7698.1 . . . . . . . . . . T 14.48 2.546606 0.45383 . . ENSG00000174775 ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189 D;D;D;D;D 0.83673 -1.75;-1.75;-1.75;-1.75;-1.75 3.64 3.64 0.41730 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85613 0.5737 M 0.90870 3.155 0.80722 D 1 B;B 0.21071 0.051;0.008 B;B 0.22152 0.022;0.038 D 0.85970 0.1476 10 0.66056 D 0.02 . 11.8872 0.52608 0.0:0.0:0.0:1.0 . 61;61 P01112-2;P01112 .;RASH_HUMAN R 61 ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R ENSP00000309845:Q61R Q - 2 0 HRAS 523874 1.000000 0.71417 0.985000 0.45067 0.482000 0.33219 7.727000 0.84838 1.662000 0.50781 0.459000 0.35465 CAG HRAS-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259403.2 - ENST00000451590.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MY-Normal-SM-5EMLI GOT1 2805 broad.mit.edu 37 10 101157431 101157431 + Missense_Mutation SNP T T C TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr10:101157431T>C ENST00000370508.5 - 9.0 1142 c.1115A>G c.(1114-1116)gAg>gGg p.E372G GOT1_ENST00000543866.1_Missense_Mutation_p.E351G NM_002079.2 NP_002070.1 P17174 AATC_HUMAN glutamic-oxaloacetic transaminase 1, soluble 372.0 2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096) axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634) carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483) endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2) 16.0 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) GACCAGATACTCAACCTGCTT 0.443 Melanoma(173;770 3544 21601) 0 149.0 129.0 135.0 10 101157431.0 2203.0 4300.0 6503.0 SO:0001583 missense M37400 CCDS7479.1 10q24.1-q25.1 2013-05-29 2013-05-29 ENSG00000120053 ENSG00000120053 2805.0 2805.0 2.6.1.1 4432.0 protein-coding gene gene with protein product """aspartate aminotransferase 1"", ""aspartate transaminase 1""" 138180 """glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)""" 1974457 Standard NM_002079 NM_002079 Approved uc001kpr.3 P17174 OTTHUMG00000018882 ENST00000370508.5:c.1115A>G 10.__UNKNOWN__:g.101157431T>C ENSP00000359539:p.Glu372Gly B2R6R7|B7Z7E9|Q5VW80 __UNKNOWN__ CCDS7479.1 . . . . . . . . . . T 10.64 1.406181 0.25378 . . ENSG00000120053 ENST00000370508;ENST00000535447;ENST00000543866 D;D 0.97378 -4.36;-4.36 4.86 3.7 0.42460 Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1); 0.100757 0.64402 D 0.000003 D 0.95153 0.8429 M 0.72576 2.205 0.47621 D 0.999477 B 0.13594 0.008 B 0.14578 0.011 D 0.92209 0.5774 10 0.54805 T 0.06 -17.6682 7.9278 0.29885 0.1358:0.0:0.142:0.7222 . 372 P17174 AATC_HUMAN G 372;325;351 ENSP00000359539:E372G;ENSP00000445578:E351G ENSP00000359539:E372G E - 2 0 GOT1 101147421 1.000000 0.71417 0.935000 0.37517 0.185000 0.23345 4.811000 0.62606 0.960000 0.38005 -0.316000 0.08728 GAG GOT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049794.1 - ENST00000370508.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MY-Normal-SM-5EMLI ACIN1 22985 broad.mit.edu 37 14 23531643 23531643 + Silent SNP T T C TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr14:23531643T>C ENST00000262710.1 - 15.0 3474 c.3147A>G c.(3145-3147)aaA>aaG p.K1049K ACIN1_ENST00000457657.1_Silent_p.K1009K|ACIN1_ENST00000357481.2_Silent_p.K291K|ACIN1_ENST00000555053.1_Silent_p.K1036K|ACIN1_ENST00000557515.1_Silent_p.K290K|ACIN1_ENST00000338631.6_Silent_p.K322K|ACIN1_ENST00000397341.3_Silent_p.K291K|ACIN1_ENST00000605057.1_Silent_p.K991K NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1049.0 apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380) ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37.0 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) AGCAATGAGATTTGATCTTGT 0.478 0 245.0 244.0 244.0 14 23531643.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB014570 CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1 14q11.2 2008-11-25 2004-03-31 2004-04-01 ENSG00000100813 ENSG00000100813 22985.0 22985.0 17066.0 protein-coding gene gene with protein product """functional spliceosome-associated protein 152""" 604562 """apoptotic chromatin condensation inducer in the nucleus""" ACINUS 9734811, 10490026 Standard NM_014977 NM_014977 Approved KIAA0670, fSAP152 uc001wit.4 Q9UKV3 OTTHUMG00000028716 ENST00000262710.1:c.3147A>G 14.__UNKNOWN__:g.23531643T>C B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2 __UNKNOWN__ CCDS9587.1 ACIN1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000071707.3 - ENST00000262710.1 Silent SNP PCPG-TCGA-SR-A6MY-Normal-SM-5EMLI SPATA31C1 0 broad.mit.edu 37 9 90535468 90535468 + RNA SNP T T C TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr9:90535468T>C ENST00000602681.1 + 0.0 1372 P0DKV0 S31C1_HUMAN SPATA31 subfamily C, member 1 cell differentiation (GO:0030154)|spermatogenesis (GO:0007283) integral component of membrane (GO:0016021) ACCTGCACTTTTCCCTCACCC 0.612 0 65.0 62.0 63.0 9 90535468.0 692.0 1591.0 2283.0 AK093374 9q22.1 2014-03-18 2012-10-12 2012-10-12 ENSG00000230246 ENSG00000230246 441452.0 441452.0 27846.0 other unknown """family with sequence similarity 75, member C1""" FAM75C1 Standard NM_001145124 NM_001145124 Approved FLJ36055 uc010mqi.3 P0DKV0 OTTHUMG00000020160 ENST00000602681.1: 9.__UNKNOWN__:g.90535468T>C __UNKNOWN__ SPATA31C1-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000467313.1 + ENST00000602681.1 RNA SNP PCPG-TCGA-SR-A6MY-Normal-SM-5EMLI PCDH9 5101 broad.mit.edu 37 13 67802021 67802021 + Silent SNP C C T TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr13:67802021C>T ENST00000377865.2 - 1.0 686 c.552G>A c.(550-552)ggG>ggA p.G184G PCDH9_ENST00000377861.3_Silent_p.G184G|PCDH9_ENST00000328454.5_Silent_p.G184G|PCDH9_ENST00000544246.1_Silent_p.G184G|PCDH9_ENST00000456367.1_Silent_p.G184G Q9HC56 PCDH9_HUMAN protocadherin 9 184.0 Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}. forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156) cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) 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) 103.0 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) AAACACTCTGCCCATTTAACA 0.428 0 125.0 127.0 126.0 13 67802021.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF169692 CCDS9443.1, CCDS9444.1 13q21.32 2010-02-22 ENSG00000184226 ENSG00000184226 5101.0 5101.0 """Cadherins / Protocadherins : Non-clustered""" 8661.0 protein-coding gene gene with protein product 603581 9787079 Standard NM_203487 NM_020403 Approved uc001vik.3 Q9HC56 OTTHUMG00000017040 ENST00000377865.2:c.552G>A 13.__UNKNOWN__:g.67802021C>T A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7 __UNKNOWN__ CCDS9444.1 PCDH9-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000276387.1 - ENST00000377865.2 Silent SNP PCPG-TCGA-SR-A6MY-Normal-SM-5EMLI GPRC5B 0 broad.mit.edu 37 16 19873270 19873270 + Silent SNP G G A rs146737474 byFrequency TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr16:19873270G>A ENST00000300571.2 - 3.0 1247 c.1056C>T c.(1054-1056)aaC>aaT p.N352N GPRC5B_ENST00000569847.1_Silent_p.N352N|GPRC5B_ENST00000535671.1_Silent_p.N352N|GPRC5B_ENST00000537135.1_Silent_p.N378N|GPRC5B_ENST00000569479.1_Silent_p.N352N NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, class C, group 5, member B 352.0 glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098) cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25.0 CCAAGCTGCCGTTGGGAAATC 0.517 0 G 0,4394 0,0,2197 59.0 54.0 56.0 1056 -4.1 1.0 16 dbSNP_134 56.0 9,8591 7.1+/-27.0 0,9,4291 no coding-synonymous GPRC5B NM_016235.1 0,9,6488 AA,AG,GG 0.1047,0.0,0.0693 352/404 19873270.0 9,12985 2197.0 4300.0 6497.0 SO:0001819 synonymous_variant AF202640 CCDS10581.1 16p12 2014-01-30 2014-01-30 ENSG00000167191 ENSG00000167191 51704.0 """GPCR / Class C : Orphans""" 13308.0 protein-coding gene gene with protein product 605948 """G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B""" 10493829, 10783259 Standard XM_005255357 Approved RAIG-2 uc002dgt.3 Q9NZH0 OTTHUMG00000131460 ENST00000300571.2:c.1056C>T 16.__UNKNOWN__:g.19873270G>A D2DFB0|O75205|Q8NBZ8 __UNKNOWN__ CCDS10581.1 GPRC5B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254285.1 - ENST00000300571.2 Silent SNP PCPG-TCGA-SR-A6MY-Normal-SM-5EMLI PRELP 5549 broad.mit.edu 37 1 203453039 203453039 + Missense_Mutation SNP G G A TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr1:203453039G>A ENST00000343110.2 + 2.0 854 c.727G>A c.(727-729)Gcc>Acc p.A243T NM_002725.3|NM_201348.1 NP_002716.1|NP_958505.1 P51888 PRELP_HUMAN proline/arginine-rich end leucine-rich repeat protein 243.0 carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36.0 BRCA - Breast invasive adenocarcinoma(75;0.109) GGTCCCCACCGCCATTCACCA 0.532 0 152.0 149.0 150.0 1 203453039.0 2203.0 4300.0 6503.0 SO:0001583 missense BC032498 CCDS1438.1 1q32 2008-02-05 2005-07-24 ENSG00000188783 ENSG00000188783 5549.0 5549.0 """Proteoglycans / Extracellular Matrix : Small leucine-rich repeats""" 9357.0 protein-coding gene gene with protein product """prolargin proteoglycan""" 601914 """proline arginine-rich end leucine-rich repeat protein""" Standard NM_002725 NM_002725 Approved SLRR2A, prolargin uc001gzt.3 P51888 OTTHUMG00000035911 ENST00000343110.2:c.727G>A 1.__UNKNOWN__:g.203453039G>A ENSP00000343924:p.Ala243Thr Q6FG38 __UNKNOWN__ CCDS1438.1 . . . . . . . . . . G 10.83 1.461040 0.26248 . . ENSG00000188783 ENST00000343110 T 0.04317 3.65 4.77 3.84 0.44239 . 0.198980 0.43579 D 0.000560 T 0.02929 0.0087 N 0.20530 0.585 0.34548 D 0.710993 B 0.33883 0.43 B 0.24155 0.051 T 0.50189 -0.8857 10 0.29301 T 0.29 -8.4347 8.8921 0.35441 0.0:0.1638:0.6667:0.1695 . 243 P51888 PRELP_HUMAN T 243 ENSP00000343924:A243T ENSP00000343924:A243T A + 1 0 PRELP 201719662 0.157000 0.22836 0.640000 0.29408 0.677000 0.39632 2.884000 0.48562 0.982000 0.38575 0.462000 0.41574 GCC PRELP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087474.1 + ENST00000343110.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MY-Normal-SM-5EMLI GLTSCR2 29997 broad.mit.edu 37 19 48255821 48255821 + Missense_Mutation SNP C C T TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr19:48255821C>T ENST00000246802.5 + 6.0 760 c.722C>T c.(721-723)gCg>gTg p.A241V GLTSCR2_ENST00000598681.1_3'UTR NM_015710.4 NP_056525.2 Q9NZM5 GSCR2_HUMAN glioma tumor suppressor candidate region gene 2 241.0 intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 15.0 all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278) GTGGAGGTGGCGCCTGCCGGA 0.667 Colon(58;613 1041 9473 10089 15241) 0 73.0 64.0 67.0 19 48255821.0 2203.0 4300.0 6503.0 SO:0001583 missense AF182076 CCDS12705.1 19q13.3 2014-01-20 ENSG00000105373 29997.0 29997.0 4333.0 protein-coding gene gene with protein product 605691 10708517, 16971513, 17657248 Standard NM_015710 NM_015710 Approved PICT-1 uc002phm.2 Q9NZM5 ENST00000246802.5:c.722C>T 19.__UNKNOWN__:g.48255821C>T ENSP00000246802:p.Ala241Val Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2 __UNKNOWN__ CCDS12705.1 . . . . . . . . . . C 0.016 -1.517945 0.00975 . . ENSG00000105373 ENST00000246802;ENST00000325566 T 0.41758 0.99 4.08 -3.36 0.04913 . 0.458427 0.23226 N 0.050514 T 0.15305 0.0369 N 0.10972 0.075 0.22903 N 0.998589 B;B;B 0.09022 0.002;0.001;0.002 B;B;B 0.08055 0.003;0.002;0.003 T 0.35425 -0.9789 10 0.02654 T 1 -4.266 9.0757 0.36519 0.0:0.3009:0.0:0.6991 . 241;241;239 Q53YP0;Q9NZM5;Q96CS0 .;GSCR2_HUMAN;. V 241 ENSP00000246802:A241V ENSP00000246802:A241V A + 2 0 GLTSCR2 52947633 0.044000 0.20184 0.165000 0.22776 0.073000 0.16967 0.174000 0.16743 -0.358000 0.08162 -0.448000 0.05591 GCG GLTSCR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464870.1 + ENST00000246802.5 Missense_Mutation SNP PCPG-TCGA-SR-A6MY-Normal-SM-5EMLI PEX10 5192 broad.mit.edu 37 1 2340298 2340299 + Splice_Site INS - - T TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr1:2340298_2340299insT ENST00000507596.1 - 3.0 231 c.e3-1 PEX10_ENST00000447513.2_Splice_Site|PEX10_ENST00000288774.3_Splice_Site|PEX10_ENST00000515760.1_Splice_Site O60683 PEX10_HUMAN peroxisomal biogenesis factor 10 peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558) integral component of peroxisomal membrane (GO:0005779)|intracellular (GO:0005622)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777) protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2) 7.0 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199) GTCTGGTAGCCTGCGAGGAAGA 0.663 GBM(12;9 508 1649 13619) 0 SO:0001630 splice_region_variant AF060502 CCDS41.1, CCDS44045.1 1p36.32 2013-01-09 2008-08-26 ENSG00000157911 ENSG00000157911 5192.0 5192.0 """RING-type (C3HC4) zinc fingers""" 8851.0 protein-coding gene gene with protein product 602859 """peroxisome biogenesis factor 10""" 9683594 Standard NM_153818 NM_002617 Approved RNF69 uc001ajg.3 O60683 OTTHUMG00000001637 ENST00000507596.1:c.194-1->A 1.__UNKNOWN__:g.2340299_2340299dupT B3KWD8|Q5T095|Q9BW90 __UNKNOWN__ PEX10-003 NOVEL basic|appris_principal protein_coding protein_coding OTTHUMT00000367455.1 Intron - ENST00000507596.1 Splice_Site INS PCPG-TCGA-SR-A6MY-Normal-SM-5EMLI IFT57 55081 bcgsc.ca 37 3 107884305 107884305 + Silent SNP C C A TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr3:107884305C>A ENST00000264538.3 - 9.0 1264 c.1017G>T c.(1015-1017)gtG>gtT p.V339V IFT57_ENST00000468021.1_5'UTR NM_018010.3 NP_060480.1 Q9NWB7 IFT57_HUMAN intraflagellar transport 57 339.0 pDED. activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391) DNA binding (GO:0003677) kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 14.0 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) TTCTTTCCGTCACTCCTCCAT 0.483 0 232.0 155.0 181.0 3 107884305.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK001009 CCDS2951.1 3q13.13 2014-07-03 2014-07-03 2005-11-02 ENSG00000114446 ENSG00000114446 55081.0 55081.0 """Intraflagellar transport homologs""" 17367.0 protein-coding gene gene with protein product 606621 """estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)""" ESRRBL1 Standard NM_018010 NM_018010 Approved FLJ10147, HIPPI, MHS4R2 uc003dwx.4 Q9NWB7 OTTHUMG00000159223 ENST00000264538.3:c.1017G>T 3.__UNKNOWN__:g.107884305C>A Q96DA9 __UNKNOWN__ CCDS2951.1 IFT57-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353918.1 - ENST00000264538.3 Silent SNP PCPG-TCGA-SR-A6MY-Normal-SM-5EMLI Unknown 0 bcgsc.ca 37 6 52723182 52723182 + RNA SNP T T C TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr6:52723182T>C GSTA5 (12289 upstream) : GSTA3 (38254 downstream) ATCTCAACCATTGGCACTTGT 0.403 0 SO:0001628 intergenic_variant 6.__UNKNOWN__:g.52723182T>C __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-SR-A6MY-Normal-SM-5EMLI SLFNL1 200172 ucsc.edu 37 1 41483032 41483032 + Silent SNP C C T TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr1:41483032C>T ENST00000359345.1 - 3.0 3551 c.975G>A c.(973-975)gtG>gtA p.V325V SLFNL1_ENST00000302946.8_Silent_p.V325V|SLFNL1_ENST00000372611.1_Silent_p.V266V|SLFNL1_ENST00000372613.2_Intron|SLFNL1_ENST00000397197.2_Intron|SLFNL1_ENST00000439569.2_Silent_p.V325V NM_144990.3 NP_659427.3 Q499Z3 SLNL1_HUMAN schlafen-like 1 325.0 ATP binding (GO:0005524) endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10.0 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0393) TGGGGGTGTGCACGGTCAGGC 0.682 0 40.0 44.0 43.0 1 41483032.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC022037 CCDS460.1, CCDS72766.1 1p34.2 2008-02-05 ENSG00000171790 ENSG00000171790 200172.0 200172.0 26313.0 protein-coding gene gene with protein product Standard NM_144990 NM_144990 Approved FLJ23878 uc001cgm.2 Q499Z3 OTTHUMG00000005719 ENST00000359345.1:c.975G>A 1.__UNKNOWN__:g.41483032C>T A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8 __UNKNOWN__ CCDS460.1 SLFNL1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000015650.1 - ENST00000359345.1 Silent SNP PCPG-TCGA-SR-A6MY-Normal-SM-5EMLI MAGEB6 158809 broad.mit.edu 37 X 26213093 26213093 + Missense_Mutation SNP C C T TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chrX:26213093C>T ENST00000379034.1 + 2.0 1279 c.1130C>T c.(1129-1131)gCc>gTc p.A377V NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 377.0 MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}. p.A377D(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33.0 CGTGTTTTGGCCGACAGCAGT 0.512 1 Substitution - Missense(1) endometrium(1) 124.0 112.0 116.0 X 26213093.0 2202.0 4300.0 6502.0 SO:0001583 missense AF320514 CCDS14217.1 Xp22.12 2009-03-17 ENSG00000176746 ENSG00000176746 158809.0 158809.0 23796.0 protein-coding gene gene with protein product """cancer/testis antigen family 3, member 4""" 300467 10861452 Standard NM_173523 NM_173523 Approved FLJ40242, MAGE-B6, MAGEB6A, CT3.4 uc004dbr.3 Q8N7X4 OTTHUMG00000021285 ENST00000379034.1:c.1130C>T X.__UNKNOWN__:g.26213093C>T ENSP00000368320:p.Ala377Val Q6GS19|Q9H219 __UNKNOWN__ CCDS14217.1 . . . . . . . . . . C 15.17 2.752697 0.49362 . . ENSG00000176746 ENST00000379034 T 0.03124 4.04 3.29 3.29 0.37713 . 0.222920 0.35677 U 0.003046 T 0.17238 0.0414 M 0.87971 2.92 0.09310 N 1 D 0.89917 1.0 D 0.72338 0.977 T 0.01428 -1.1357 10 0.54805 T 0.06 . 9.1984 0.37242 0.0:1.0:0.0:0.0 . 377 Q8N7X4 MAGB6_HUMAN V 377 ENSP00000368320:A377V ENSP00000368320:A377V A + 2 0 MAGEB6 26123014 0.024000 0.19004 0.014000 0.15608 0.001000 0.01503 0.452000 0.21795 1.907000 0.55213 0.594000 0.82650 GCC MAGEB6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056123.1 + ENST00000379034.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MZ-Normal-SM-5EMLQ DDI2 84301 broad.mit.edu 37 1 15956918 15956918 + Missense_Mutation SNP G G A TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr1:15956918G>A ENST00000480945.1 + 3.0 538 c.367G>A c.(367-369)Gga>Aga p.G123R NM_032341.4 NP_115717.3 Q5TDH0 DDI2_HUMAN DNA-damage inducible 1 homolog 2 (S. cerevisiae) 123.0 aspartic-type endopeptidase activity (GO:0004190) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1) 17.0 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) CTCATCTCCTGGAGAAATAAC 0.537 0 95.0 88.0 91.0 1 15956918.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS30607.1 1p36.13 2010-05-04 2010-05-04 ENSG00000197312 ENSG00000197312 84301.0 84301.0 24578.0 protein-coding gene gene with protein product """DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)""" Standard NM_032341 NM_032341 Approved MGC14844 uc001awx.2 Q5TDH0 OTTHUMG00000002381 ENST00000480945.1:c.367G>A 1.__UNKNOWN__:g.15956918G>A ENSP00000417748:p.Gly123Arg A8KAE1|Q7RTZ0|Q9BRT1 __UNKNOWN__ CCDS30607.1 . . . . . . . . . . G 17.28 3.349553 0.61183 . . ENSG00000197312 ENST00000480945 T 0.22336 1.96 5.67 4.76 0.60689 . 0.513584 0.17590 U 0.168812 T 0.22244 0.0536 L 0.42245 1.32 0.37204 D 0.904513 P 0.36599 0.56 B 0.43052 0.406 T 0.12400 -1.0549 10 0.26408 T 0.33 -20.094 9.1566 0.36996 0.081:0.258:0.661:0.0 . 123 Q5TDH0 DDI2_HUMAN R 123 ENSP00000417748:G123R ENSP00000449475:G8R G + 1 0 DDI2 15829505 0.930000 0.31532 1.000000 0.80357 0.998000 0.95712 1.433000 0.34947 1.407000 0.46875 0.650000 0.86243 GGA DDI2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000006826.1 + ENST00000480945.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MZ-Normal-SM-5EMLQ FRMPD4 9758 broad.mit.edu 37 X 12735149 12735149 + Silent SNP C C T TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chrX:12735149C>T ENST00000380682.1 + 15.0 3077 c.2571C>T c.(2569-2571)gcC>gcT p.A857A NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 857.0 positive regulation of synapse structural plasticity (GO:0051835) cytoskeleton (GO:0005856)|dendritic spine (GO:0043197) phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22.0 CCACCAGCGCCGAAGGCAAGT 0.567 0 100.0 92.0 94.0 X 12735149.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB002314 CCDS35201.1 Xp22.31 2006-02-09 2006-02-09 2006-02-09 ENSG00000169933 ENSG00000169933 9758.0 9758.0 29007.0 protein-coding gene gene with protein product 300838 """PDZ domain containing 10""" PDZK10, PDZD10 9205841 Standard XM_045712 NM_014728 Approved KIAA0316 uc004cuz.2 Q14CM0 OTTHUMG00000021138 ENST00000380682.1:c.2571C>T X.__UNKNOWN__:g.12735149C>T A8K0X9|O15032 __UNKNOWN__ CCDS35201.1 FRMPD4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055771.1 + ENST00000380682.1 Silent SNP PCPG-TCGA-SR-A6MZ-Normal-SM-5EMLQ ABCA13 154664 broad.mit.edu 37 7 48311940 48311940 + Missense_Mutation SNP C C T TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr7:48311940C>T ENST00000435803.1 + 17.0 2701 c.2677C>T c.(2677-2679)Cgt>Tgt p.R893C NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 893.0 transport (GO:0006810) integral component of membrane (GO:0016021) ATP binding (GO:0005524)|ATPase activity (GO:0016887) 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) 270.0 AGATTTTGTACGTTTAAGTGA 0.383 0 115.0 114.0 114.0 7 48311940.0 1845.0 4087.0 5932.0 SO:0001583 missense AY204751 CCDS47584.1 7p12.3 2012-03-14 ENSG00000179869 ENSG00000179869 154664.0 154664.0 """ATP binding cassette transporters / subfamily A""" 14638.0 protein-coding gene gene with protein product 607807 12697998 Standard NM_152701 NM_152701 Approved FLJ33876, FLJ33951 uc003toq.2 Q86UQ4 OTTHUMG00000155840 ENST00000435803.1:c.2677C>T 7.__UNKNOWN__:g.48311940C>T ENSP00000411096:p.Arg893Cys K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248 __UNKNOWN__ CCDS47584.1 . . . . . . . . . . C 5.229 0.227731 0.09916 . . ENSG00000179869 ENST00000435803 D 0.86366 -2.11 5.46 0.942 0.19525 . 0.401893 0.20733 N 0.086665 T 0.65165 0.2665 N 0.08118 0 0.09310 N 1 D 0.54047 0.964 B 0.36766 0.232 T 0.65146 -0.6239 10 0.87932 D 0 . 2.2445 0.04028 0.1642:0.4913:0.1139:0.2306 . 893 Q86UQ4 ABCAD_HUMAN C 893 ENSP00000411096:R893C ENSP00000411096:R893C R + 1 0 ABCA13 48282486 0.000000 0.05858 0.011000 0.14972 0.010000 0.07245 -0.287000 0.08388 0.372000 0.24591 -0.143000 0.13931 CGT ABCA13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000341964.2 + ENST00000435803.1 Missense_Mutation SNP PCPG-TCGA-SR-A6MZ-Normal-SM-5EMLQ EGF 1950 broad.mit.edu 37 4 110925779 110925779 + Splice_Site SNP G G C TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr4:110925779G>C ENST00000509793.1 + 21.0 3617 c.e21+1 EGF_ENST00000503392.1_Splice_Site|EGF_ENST00000265171.5_Splice_Site NM_001178131.1 NP_001171602.1 P01133 EGF_HUMAN epidermal growth factor activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093) calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297) 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) 50.0 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sucralfate(DB00364) TCAACCTTGGGTAATGTGACC 0.438 0 100.0 90.0 93.0 4 110925779.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant X04571 CCDS3689.1, CCDS54794.1, CCDS54795.1 4q25 2012-10-02 2010-05-11 ENSG00000138798 ENSG00000138798 1950.0 1950.0 3229.0 protein-coding gene gene with protein product 131530 """epidermal growth factor (beta-urogastrone)""" Standard NM_001963 Approved uc003hzy.4 P01133 OTTHUMG00000132044 ENST00000509793.1:c.3165+1G>C 4.__UNKNOWN__:g.110925779G>C B4DRK7|E7EVD2|E9PBF0|Q52LZ6 __UNKNOWN__ CCDS54795.1 . . . . . . . . . . G 13.59 2.283705 0.40394 . . ENSG00000138798 ENST00000509793;ENST00000265171;ENST00000503392 . . . 4.08 4.08 0.47627 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 11.9763 0.53094 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . EGF 111145228 1.000000 0.71417 1.000000 0.80357 0.711000 0.40976 4.426000 0.59882 2.250000 0.74265 0.650000 0.86243 . EGF-002 KNOWN basic|appris_candidate|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000363798.2 Intron + ENST00000509793.1 Splice_Site SNP PCPG-TCGA-SR-A6MZ-Normal-SM-5EMLQ PTCHD3 374308 broad.mit.edu 37 10 27700844 27700844 + Silent SNP T T C TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr10:27700844T>C ENST00000438700.3 - 2.0 1221 c.1104A>G c.(1102-1104)acA>acG p.T368T NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 368.0 spermatid development (GO:0007286) integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225) hedgehog receptor activity (GO:0008158) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55.0 TGGAAAGCGATGTAAAGTGGA 0.358 0 61.0 55.0 58.0 10 27700844.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK126025 CCDS31173.1 10p12.1 2006-05-26 ENSG00000182077 ENSG00000182077 374308.0 374308.0 24776.0 protein-coding gene gene with protein product 611791 Standard XM_370541 NM_001034842 Approved FLJ44037, PTR uc001itu.2 Q3KNS1 OTTHUMG00000017860 ENST00000438700.3:c.1104A>G 10.__UNKNOWN__:g.27700844T>C I3L499|Q6ZU28 __UNKNOWN__ CCDS31173.1 PTCHD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047325.3 - ENST00000438700.3 Silent SNP PCPG-TCGA-SR-A6MZ-Normal-SM-5EMLQ AC003958.2 0 broad.mit.edu 37 17 39566130 39566130 + RNA SNP C C A TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr17:39566130C>A ENST00000432258.1 + 0.0 1544 AC003958.2_ENST00000430006.1_RNA TCATCTGCAGCCAATTTGGCA 0.493 0 ENST00000432258.1: 17.__UNKNOWN__:g.39566130C>A __UNKNOWN__ AC003958.2-002 KNOWN basic antisense antisense OTTHUMT00000257900.2 + ENST00000432258.1 RNA SNP PCPG-TCGA-SR-A6MZ-Normal-SM-5EMLQ MUC15 143662 broad.mit.edu 37 11 26582751 26582751 + Missense_Mutation SNP G G A TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr11:26582751G>A ENST00000455601.2 - 4.0 984 c.866C>T c.(865-867)cCg>cTg p.P289L ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.P266L|MUC15_ENST00000281268.8_Missense_Mutation_p.P266L|MUC15_ENST00000529533.1_Missense_Mutation_p.P316L|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.P316L|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000529242.1_Intron NM_145650.3 NP_663625.2 Q8N387 MUC15_HUMAN mucin 15, cell surface associated 289.0 cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25.0 ATAAGGTTCCGGTGCATTGTC 0.378 0 G LEU/PRO,LEU/PRO,,LEU/PRO 1,4405 4.2+/-10.8 0,1,2202 123.0 110.0 114.0 947,797,,866 4.5 0.9 11 114.0 0,8600 0,0,4300 yes missense,missense,intron,missense ANO3,MUC15 NM_001135091.1,NM_001135092.1,NM_031418.2,NM_145650.3 98,98,,98 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 probably-damaging,probably-damaging,,probably-damaging 316/362,266/312,,289/335 26582751.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AJ417818 CCDS7859.1, CCDS44556.1, CCDS44557.1 11p14.3 2007-01-17 2006-03-14 143662.0 143662.0 """Mucins""" 14956.0 protein-coding gene gene with protein product 608566 12047385 Standard NM_145650 NM_145650 Approved uc001mqw.3 Q8N387 ENST00000455601.2:c.866C>T 11.__UNKNOWN__:g.26582751G>A ENSP00000397339:p.Pro289Leu B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41 __UNKNOWN__ CCDS7859.1 . . . . . . . . . . G 20.8 4.045034 0.75846 2.27E-4 0.0 ENSG00000169550 ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569 T;T;T;T;T 0.31247 1.53;1.5;1.5;1.5;1.5 5.42 4.5 0.54988 . 0.279911 0.25695 N 0.028913 T 0.23611 0.0571 L 0.29908 0.895 0.42787 D 0.993888 P;P;P 0.42409 0.779;0.56;0.72 B;B;B 0.37989 0.262;0.112;0.191 T 0.06588 -1.0818 10 0.72032 D 0.01 -22.5625 13.2789 0.60202 0.0783:0.0:0.9217:0.0 . 266;289;316 F8W945;Q8N387;E9PII6 .;MUC15_HUMAN;. L 289;316;266;316;266 ENSP00000397339:P289L;ENSP00000416753:P316L;ENSP00000281268:P266L;ENSP00000431983:P316L;ENSP00000431945:P266L ENSP00000281268:P266L P - 2 0 MUC15 26539327 0.994000 0.37717 0.923000 0.36655 0.933000 0.57130 2.562000 0.45914 1.413000 0.46997 0.585000 0.79938 CCG MUC15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387866.1 - ENST00000455601.2 Missense_Mutation SNP PCPG-TCGA-SR-A6MZ-Normal-SM-5EMLQ EPHB2 2048 broad.mit.edu 37 1 23232562 23232562 + Silent SNP T T C TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr1:23232562T>C ENST00000374632.3 + 10.0 1864 c.1851T>C c.(1849-1851)atT>atC p.I617I EPHB2_ENST00000374630.3_Silent_p.I616I|EPHB2_ENST00000400191.3_Silent_p.I616I|EPHB2_ENST00000374627.1_Silent_p.I611I P29323 EPHB2_HUMAN EPH receptor B2 616.0 angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655) axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025) ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005) 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) 56.0 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) CCAAGGAAATTGACATCTCCT 0.542 0 108.0 94.0 99.0 1 23232562.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF025304 CCDS229.2, CCDS230.1 1p36.1-p35 2014-09-17 2004-10-28 ENSG00000133216 ENSG00000133216 2048.0 2048.0 2.7.10.1 """EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing""" 3393.0 protein-coding gene gene with protein product 600997 """EphB2""" DRT, ERK, EPHT3 1648701 Standard NM_017449 NM_017449 Approved Hek5, Tyro5 uc001bge.3 P29323 OTTHUMG00000002881 ENST00000374632.3:c.1851T>C 1.__UNKNOWN__:g.23232562T>C O43477|Q5T0U6|Q5T0U7|Q5T0U8 __UNKNOWN__ CCDS230.1 EPHB2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000008061.2 + ENST00000374632.3 Silent SNP PCPG-TCGA-SR-A6MZ-Normal-SM-5EMLQ TOB2 10766 broad.mit.edu 37 22 41832990 41832990 + Silent SNP G G A TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr22:41832990G>A ENST00000327492.3 - 2.0 1066 c.360C>T c.(358-360)tgC>tgT p.C120C NM_016272.3 NP_057356.1 Q14106 TOB2_HUMAN transducer of ERBB2, 2 120.0 female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468) cytoplasm (GO:0005737)|nucleus (GO:0005634) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10.0 CTGGGGCACCGCAACCCTCAC 0.572 G 1.0 0.0005 2184.0 1.0 , , 0.0002 0.0013 0.0005 0.9547 EXOME 0.0005 SNP 0 103.0 86.0 92.0 22 41832990.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D64109 CCDS14015.1 22q13.2 2010-02-26 ENSG00000183864 ENSG00000183864 10766.0 10766.0 11980.0 protein-coding gene gene with protein product 607396 TROB2 10602502, 10591208 Standard NM_016272 XM_005261315 Approved TOBL, TOB4, bK223H9 uc003azz.1 Q14106 OTTHUMG00000150970 ENST00000327492.3:c.360C>T 22.__UNKNOWN__:g.41832990G>A Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0 __UNKNOWN__ CCDS14015.1 TOB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320699.1 - ENST00000327492.3 Silent SNP PCPG-TCGA-SR-A6MZ-Normal-SM-5EMLQ Unknown 0 bcgsc.ca 37 14 45332005 45332005 + RNA SNP C C T TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr14:45332005C>T RP11-398E10.1 (79973 upstream) : RP11-857B24.1 (14071 downstream) CCTGTTGCTCCTTCTGGGATG 0.463 0 SO:0001628 intergenic_variant 14.__UNKNOWN__:g.45332005C>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-SR-A6MZ-Normal-SM-5EMLQ RANBP2 5903 bcgsc.ca 37 2 109379707 109379707 + Silent SNP C C T TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr2:109379707C>T ENST00000283195.6 + 20.0 2838 c.2712C>T c.(2710-2712)ggC>ggT p.G904G NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 904.0 carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615) ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270) 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) 129.0 CAGTCTATGGCATGAATAGGC 0.408 0 70.0 67.0 68.0 2 109379707.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D42063 CCDS2079.1 2q13 2013-11-14 ENSG00000153201 ENSG00000153201 5903.0 5903.0 """Tetratricopeptide (TTC) repeat domain containing""" 9848.0 protein-coding gene gene with protein product 601181 """acute necrotizing encephalopathy 1 (autosomal dominant)""" ANE1 7724562, 19118815 Standard NM_006267 NM_006267 Approved NUP358, ADANE uc002tem.4 P49792 OTTHUMG00000130981 ENST00000283195.6:c.2712C>T 2.__UNKNOWN__:g.109379707C>T Q13074|Q15280|Q53TE2|Q59FH7 __UNKNOWN__ CCDS2079.1 RANBP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253594.1 + ENST00000283195.6 Silent SNP PCPG-TCGA-SR-A6MZ-Normal-SM-5EMLQ Unknown 0 bcgsc.ca 37 6 135219548 135219548 + RNA SNP A A T TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr6:135219548A>T RP1-287H17.1 (191061 upstream) : ALDH8A1 (18979 downstream) AGCAGATCCTAGTAATTTCTT 0.388 0 SO:0001628 intergenic_variant 6.__UNKNOWN__:g.135219548A>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-SR-A6MZ-Normal-SM-5EMLQ ULK1 8408 unc.edu 37 12 132400459 132400459 + Missense_Mutation SNP C C T TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS;RNA-Seq none Illumina HiSeq ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr12:132400459C>T ENST00000321867.4 + 19.0 1984 c.1633C>T c.(1633-1635)Ccc>Tcc p.P545S NM_003565.2 NP_003556 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 545.0 autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594) ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969) ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137) 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) 29.0 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) CGAGCACTCTCCCCGCACTTC 0.701 0 39.0 46.0 44.0 12 132400459.0 2202.0 4294.0 6496.0 SO:0001583 missense AF045458 CCDS9274.1 12q24.3 2014-02-12 2013-07-02 ENSG00000177169 ENSG00000177169 8408.0 8408.0 12558.0 protein-coding gene gene with protein product """ATG1 autophagy related 1 homolog (S. cerevisiae)""" 603168 """unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)""" 9693035 Standard NM_003565 Approved ATG1, ATG1A uc001uje.3 O75385 OTTHUMG00000168052 ENST00000321867.4:c.1633C>T 12.__UNKNOWN__:g.132400459C>T ENSP00000324560:p.Pro545Ser Q9UQ28 __UNKNOWN__ CCDS9274.1 . . . . . . . . . . A 13.73 2.324983 0.41197 . . ENSG00000177169 ENST00000321867 T 0.72505 -0.66 4.96 2.11 0.27256 . 0.363332 0.27821 N 0.017712 T 0.59101 0.2169 L 0.47016 1.485 0.24359 N 0.994889 B 0.11235 0.004 B 0.08055 0.003 T 0.47289 -0.9129 10 0.34782 T 0.22 -18.5149 8.3022 0.32021 0.134:0.7184:0.0:0.1476 . 545 O75385 ULK1_HUMAN S 545 ENSP00000324560:P545S ENSP00000324560:P545S P + 1 0 ULK1 130966412 0.034000 0.19679 0.002000 0.10522 0.023000 0.10783 0.193000 0.17116 0.029000 0.15352 -1.444000 0.01066 CCC ULK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000397769.3 + ENST00000321867.4 Missense_Mutation SNP PCPG-TCGA-SR-A6MZ-Normal-SM-5EMLQ NOTCH4 4855 broad.mit.edu 37 6 32184732 32184732 + Silent SNP A A G TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr6:32184732A>G ENST00000375023.3 - 11.0 1989 c.1851T>C c.(1849-1851)tcT>tcC p.S617S NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 617.0 EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872) 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) 100.0 CTGTGAAACCAGAGGGGCAGA 0.527 0 84.0 78.0 80.0 6 32184732.0 1511.0 2709.0 4220.0 SO:0001819 synonymous_variant CCDS34420.1 6p21.3 2013-01-10 2010-06-24 ENSG00000204301 ENSG00000204301 4855.0 4855.0 """Ankyrin repeat domain containing""" 7884.0 protein-coding gene gene with protein product 164951 """Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)""" INT3 7835890 Standard NM_004557 Approved uc003obb.3 Q99466 OTTHUMG00000031044 ENST00000375023.3:c.1851T>C 6.__UNKNOWN__:g.32184732A>G B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0 __UNKNOWN__ CCDS34420.1 NOTCH4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076045.2 - ENST00000375023.3 Silent SNP PCPG-TCGA-SR-A6N0-Normal-SM-5EMMD PCSK4 54760 broad.mit.edu 37 19 1490185 1490185 + Missense_Mutation SNP C C T TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr19:1490185C>T ENST00000300954.5 - 1.0 222 c.161G>A c.(160-162)cGc>cAc p.R54H PCSK4_ENST00000587784.1_Intron NM_017573.3 NP_060043.2 proprotein convertase subtilisin/kexin type 4 cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15.0 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCGAATTTGCGTGCCAGGCG 0.687 0 24.0 26.0 25.0 19 1490185.0 2203.0 4300.0 6503.0 SO:0001583 missense AK057235 CCDS12069.2 19p13.3 2008-02-05 ENSG00000115257 ENSG00000115257 54760.0 54760.0 8746.0 protein-coding gene gene with protein product 600487 7782070 Standard NM_017573 XM_005259586 Approved PC4, SPC5, DKFZp434B217, MGC34749 uc002ltb.1 Q6UW60 OTTHUMG00000128541 ENST00000300954.5:c.161G>A 19.__UNKNOWN__:g.1490185C>T ENSP00000300954:p.Arg54His __UNKNOWN__ CCDS12069.2 . . . . . . . . . . C 19.41 3.822137 0.71028 . . ENSG00000115257 ENST00000300954 T 0.32515 1.45 3.3 0.883 0.19177 Proteinase inhibitor, propeptide (1); 0.474579 0.17075 N 0.188014 T 0.37019 0.0988 L 0.53617 1.68 0.28048 N 0.933468 D 0.76494 0.999 P 0.60117 0.869 T 0.16305 -1.0407 10 0.56958 D 0.05 . 2.5982 0.04859 0.2294:0.5071:0.0:0.2635 . 54 Q6UW60 PCSK4_HUMAN H 54 ENSP00000300954:R54H ENSP00000300954:R54H R - 2 0 PCSK4 1441185 0.021000 0.18746 0.996000 0.52242 0.935000 0.57460 1.113000 0.31184 0.733000 0.32492 0.313000 0.20887 CGC PCSK4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000449703.1 - ENST00000300954.5 Missense_Mutation SNP PCPG-TCGA-SR-A6N0-Normal-SM-5EMMD KLHL23 151230 broad.mit.edu 37 2 170606207 170606207 + Missense_Mutation SNP C C T TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr2:170606207C>T ENST00000392647.2 + 4.0 1886 c.1642C>T c.(1642-1644)Cgg>Tgg p.R548W KLHL23_ENST00000272797.4_Missense_Mutation_p.R548W|KLHL23_ENST00000602521.1_Missense_Mutation_p.R55W NM_144711.5 NP_653312.2 Q8NBE8 KLH23_HUMAN kelch-like family member 23 548.0 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 16.0 CAGTGCCATGCGGTCTCATGG 0.373 0 221.0 214.0 216.0 2 170606207.0 2203.0 4300.0 6503.0 SO:0001583 missense BC010437 CCDS2236.1 2q31.1 2013-01-30 2013-01-30 ENSG00000213160 ENSG00000213160 151230.0 151230.0 """Kelch-like"", ""BTB/POZ domain containing""" 27506.0 protein-coding gene gene with protein product """kelch-like 23 (Drosophila)""" Standard NM_144711 NM_144711 Approved MGC2610, FLJ37812, MGC22679 uc002ufi.2 Q8NBE8 OTTHUMG00000132213 ENST00000392647.2:c.1642C>T 2.__UNKNOWN__:g.170606207C>T ENSP00000376419:p.Arg548Trp Q8N9B9|Q96FT8 __UNKNOWN__ CCDS2236.1 . . . . . . . . . . C 18.51 3.639525 0.67244 . . ENSG00000213160 ENST00000272797;ENST00000392647 T;T 0.66460 -0.21;-0.21 5.55 2.63 0.31362 Kelch-type beta propeller (1); 0.000000 0.85682 D 0.000000 T 0.68540 0.3012 L 0.31065 0.9 0.34834 D 0.739985 D 0.89917 1.0 P 0.60286 0.872 T 0.74959 -0.3486 9 0.54805 T 0.06 . 14.4257 0.67215 0.3863:0.6136:0.0:0.0 . 548 Q8NBE8 KLH23_HUMAN W 548 ENSP00000272797:R548W;ENSP00000376419:R548W ENSP00000272797:R548W R + 1 2 KLHL23 170314453 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 2.412000 0.44609 0.243000 0.21327 0.655000 0.94253 CGG KLHL23-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255271.2 + ENST00000392647.2 Missense_Mutation SNP PCPG-TCGA-SR-A6N0-Normal-SM-5EMMD OR6C76 390326 broad.mit.edu 37 12 55820078 55820078 + Missense_Mutation SNP G G A TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr12:55820078G>A ENST00000328314.3 + 1.0 41 c.41G>A c.(40-42)gGt>gAt p.G14D NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 14.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14.0 ATCCTTCTGGGTCTGACGGAT 0.373 0 154.0 146.0 149.0 12 55820078.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS31823.1 12q13.2 2013-09-23 ENSG00000185821 ENSG00000185821 390326.0 390326.0 """GPCR / Class A : Olfactory receptors""" 31305.0 protein-coding gene gene with protein product Standard NM_001005183 NM_001005183 Approved uc010spm.2 A6NM76 OTTHUMG00000169956 ENST00000328314.3:c.41G>A 12.__UNKNOWN__:g.55820078G>A ENSP00000328402:p.Gly14Asp __UNKNOWN__ CCDS31823.1 . . . . . . . . . . g 26.4 4.736084 0.89482 . . ENSG00000185821 ENST00000328314 T 0.02301 4.35 4.35 4.35 0.52113 . 0.000000 0.43579 U 0.000553 T 0.14657 0.0354 M 0.92122 3.275 0.37873 D 0.930111 D 0.58970 0.984 P 0.61397 0.888 T 0.02610 -1.1134 10 0.72032 D 0.01 . 13.2621 0.60111 0.0:0.2073:0.7927:0.0 . 14 A6NM76 O6C76_HUMAN D 14 ENSP00000328402:G14D ENSP00000328402:G14D G + 2 0 OR6C76 54106345 0.979000 0.34478 0.602000 0.28890 0.731000 0.41821 2.788000 0.47806 2.405000 0.81733 0.598000 0.82781 GGT OR6C76-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406675.1 + ENST00000328314.3 Missense_Mutation SNP PCPG-TCGA-SR-A6N0-Normal-SM-5EMMD TRIO 7204 broad.mit.edu 37 5 14391061 14391061 + Missense_Mutation SNP A A T TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr5:14391061A>T ENST00000344204.4 + 27.0 4204 c.4180A>T c.(4180-4182)Act>Tct p.T1394S TRIO_ENST00000509967.2_Missense_Mutation_p.T1345S|TRIO_ENST00000537187.1_Missense_Mutation_p.T1394S NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1394.0 DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}. apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185) cytosol (GO:0005829) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) 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) 118.0 Lung NSC(4;0.000742) GCCTGATTCTACTCAGCTGAT 0.343 0 95.0 93.0 93.0 5 14391061.0 2203.0 4300.0 6503.0 SO:0001583 missense AF091395 CCDS3883.1 5p14-p15.1 2013-01-11 2012-07-12 ENSG00000038382 ENSG00000038382 7204.0 7204.0 """Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing""" 12303.0 protein-coding gene gene with protein product 601893 """triple functional domain (PTPRF interacting)""" 8643598 Standard NM_007118 NM_007118 Approved ARHGEF23 uc003jff.3 O75962 OTTHUMG00000131057 ENST00000344204.4:c.4180A>T 5.__UNKNOWN__:g.14391061A>T ENSP00000339299:p.Thr1394Ser D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8 __UNKNOWN__ CCDS3883.1 . . . . . . . . . . A 16.84 3.234623 0.58886 . . ENSG00000038382 ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206 T;T;T 0.62639 0.01;0.01;0.01 5.29 5.29 0.74685 Dbl homology (DH) domain (5); 0.000000 0.85682 D 0.000000 T 0.60715 0.2290 N 0.12746 0.255 0.58432 D 0.999999 B;B;P 0.48764 0.001;0.085;0.915 B;B;P 0.61477 0.001;0.057;0.889 T 0.59947 -0.7358 10 0.23302 T 0.38 . 15.5309 0.75960 1.0:0.0:0.0:0.0 . 1345;1394;1394 F5H228;O75962-5;O75962 .;.;TRIO_HUMAN S 1394;1394;1345;1081 ENSP00000339299:T1394S;ENSP00000446348:T1394S;ENSP00000445592:T1345S ENSP00000339299:T1394S T + 1 0 TRIO 14444061 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 9.287000 0.95975 2.120000 0.65058 0.528000 0.53228 ACT TRIO-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253711.2 + ENST00000344204.4 Missense_Mutation SNP PCPG-TCGA-SR-A6N0-Normal-SM-5EMMD ZNF528 84436 broad.mit.edu 37 19 52919463 52919463 + Missense_Mutation SNP C C G TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr19:52919463C>G ENST00000391788.2 + 0.0 2016 ZNF528_ENST00000360465.3_Missense_Mutation_p.T453S Q3MIS6 ZN528_HUMAN zinc finger protein 528 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) 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) 39.0 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) TCAGACCTTACTGCCCATTTT 0.373 0 73.0 74.0 74.0 19 52919463.0 2202.0 4300.0 6502.0 SO:0001624 3_prime_UTR_variant AB058730 CCDS33091.1 19q13 2013-01-08 ENSG00000167555 ENSG00000167555 84436.0 84436.0 """Zinc fingers, C2H2-type"", ""-""" 29384.0 protein-coding gene gene with protein product 615580 11347906 Standard NM_032423 NM_032423 Approved KIAA1827 uc002pzh.3 Q3MIS6 OTTHUMG00000156494 ENST00000391788.2:c.*1121C>G 19.__UNKNOWN__:g.52919463C>G B3KPN4|Q86T88|Q96JK0 __UNKNOWN__ . . . . . . . . . . C 5.957 0.360529 0.11296 . . ENSG00000167555 ENST00000360465 T 0.35421 1.31 1.96 -2.16 0.07080 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.18509 0.0444 N 0.20483 0.58 0.09310 N 1 B 0.10296 0.003 B 0.14578 0.011 T 0.19484 -1.0304 9 0.44086 T 0.13 . 2.6141 0.04899 0.4002:0.2633:0.0:0.3365 . 453 Q3MIS6 ZN528_HUMAN S 453 ENSP00000353652:T453S ENSP00000353652:T453S T + 2 0 ZNF528 57611275 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.953000 0.01526 -0.576000 0.05974 -0.284000 0.09977 ACT ZNF528-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000344337.3 + ENST00000391788.2 3'UTR SNP PCPG-TCGA-SR-A6N0-Normal-SM-5EMMD HNF1B 6928 broad.mit.edu 37 17 36099431 36099431 + Splice_Site SNP G G A TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr17:36099431G>A ENST00000560016.1 - 2.0 677 c.544C>T c.(544-546)Caa>Taa p.Q182* HNF1B_ENST00000427275.2_Splice_Site_p.Q182*|HNF1B_ENST00000561193.1_Splice_Site_p.Q182*|HNF1B_ENST00000225893.4_Splice_Site_p.Q182* P35680 HNF1B_HUMAN HNF1 homeobox B 182.0 anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677) nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28.0 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) AAACACTTACGTCGGAGGATC 0.547 Colon(71;102 1179 9001 27917 43397) 0 GRCh37 CM042491 HNF1B M 140.0 121.0 127.0 17 36099431.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant BC017714 CCDS11324.1, CCDS58538.1 17q12 2014-05-06 2007-08-24 2007-08-24 ENSG00000108753 ENSG00000275410 6928.0 6928.0 """Homeoboxes / HNF class""" 11630.0 protein-coding gene gene with protein product 189907 """transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor""" TCF2 1677179, 10484768 Standard NM_000458 NM_000458 Approved LFB3, VHNF1, HNF1beta, MODY5 uc002hok.4 P35680 OTTHUMG00000188478 ENST00000560016.1:c.544+1C>T 17.__UNKNOWN__:g.36099431G>A B4DKM3|E0YMJ9 __UNKNOWN__ . . . . . . . . . . G 40 7.944435 0.98574 . . ENSG00000108753 ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087 . . . 5.96 5.96 0.96718 . 0.102593 0.64402 D 0.000001 . . . . . . 0.80722 A 1 . . . . . . . . . . . . . -21.621 19.3889 0.94570 0.0:0.0:1.0:0.0 . . . . X 182;182;182;70 . . Q - 1 0 HNF1B 33173544 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 9.420000 0.97426 2.826000 0.97356 0.655000 0.94253 CAA;CAG;CAA;CAA HNF1B-005 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000417065.1 Nonsense_Mutation - ENST00000560016.1 Splice_Site SNP PCPG-TCGA-SR-A6N0-Normal-SM-5EMMD RP11-85G18.6 0 broad.mit.edu 37 10 27535352 27535352 + RNA SNP G G A TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr10:27535352G>A ENST00000574842.1 + 0.0 255 AATCAAAGTCGTTAGTATTTC 0.383 0 ENST00000574842.1: 10.__UNKNOWN__:g.27535352G>A __UNKNOWN__ RP11-85G18.6-001 KNOWN basic lincRNA lincRNA OTTHUMT00000436904.1 + ENST00000574842.1 lincRNA SNP PCPG-TCGA-SR-A6N0-Normal-SM-5EMMD P4HA2 8974 broad.mit.edu 37 5 131546166 131546166 + Missense_Mutation SNP G G A TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr5:131546166G>A ENST00000401867.1 - 7.0 1088 c.520C>T c.(520-522)Cgc>Tgc p.R174C P4HA2_ENST00000360568.3_Missense_Mutation_p.R174C|P4HA2_ENST00000379086.1_Missense_Mutation_p.R174C|P4HA2_ENST00000379100.2_Missense_Mutation_p.R174C|P4HA2_ENST00000166534.4_Missense_Mutation_p.R174C|P4HA2_ENST00000379104.2_Missense_Mutation_p.R174C O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha polypeptide II 174.0 peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222) electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656) p.R174C(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24.0 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) TAGGCCGAGCGGCCCATCCCA 0.537 Esophageal Squamous(68;117 1135 17362 19256 34242) 1 Substitution - Missense(1) prostate(1) G CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG 1,4405 2.1+/-5.4 0,1,2202 284.0 283.0 283.0 520,520,520,520,520 4.6 1.0 5 283.0 0,8600 0,0,4300 no missense,missense,missense,missense,missense P4HA2 NM_001017973.1,NM_001017974.1,NM_001142598.1,NM_001142599.1,NM_004199.2 180,180,180,180,180 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging 174/534,174/534,174/534,174/536,174/536 131546166.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense U90441 CCDS4151.1, CCDS34230.1 5q31 2008-12-09 2008-12-09 ENSG00000072682 ENSG00000072682 8974.0 8974.0 1.14.11.2 8547.0 protein-coding gene gene with protein product """4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)""" 600608 """procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II""" 9211872, 9149945 Standard NM_004199 NM_001142598 Approved C-P4Halpha(II) uc003kwl.3 O15460 OTTHUMG00000059647 ENST00000401867.1:c.520C>T 5.__UNKNOWN__:g.131546166G>A ENSP00000384999:p.Arg174Cys D3DQ85|D3DQ86|Q8WWN0 __UNKNOWN__ CCDS4151.1 . . . . . . . . . . G 19.55 3.848440 0.71603 2.27E-4 0.0 ENSG00000072682 ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100;ENST00000417528;ENST00000431054;ENST00000439698 T;T;T;T;T;T 0.48836 0.8;0.8;0.8;0.8;0.8;0.8 5.62 4.63 0.57726 Tetratricopeptide-like helical (1); 0.046535 0.85682 D 0.000000 T 0.63200 0.2491 M 0.70842 2.15 0.58432 D 0.999999 D;D 0.76494 0.998;0.999 P;D 0.64321 0.776;0.924 T 0.65709 -0.6102 10 0.87932 D 0 -15.8867 11.5404 0.50663 0.0:0.0:0.6253:0.3747 . 174;174 O15460;O15460-2 P4HA2_HUMAN;. C 174;174;174;174;174;174;174;206;174 ENSP00000384999:R174C;ENSP00000368379:R174C;ENSP00000166534:R174C;ENSP00000353772:R174C;ENSP00000368398:R174C;ENSP00000368394:R174C ENSP00000166534:R174C R - 1 0 P4HA2 131574065 1.000000 0.71417 1.000000 0.80357 0.408000 0.30992 5.616000 0.67709 2.809000 0.96659 0.467000 0.42956 CGC P4HA2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000132653.4 - ENST00000401867.1 Missense_Mutation SNP PCPG-TCGA-SR-A6N0-Normal-SM-5EMMD OR1J2 26740 broad.mit.edu 37 9 125273104 125273104 + Silent SNP C C T TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr9:125273104C>T ENST00000335302.5 + 1.0 24 c.24C>T c.(22-24)agC>agT p.S8S NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 8.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26.0 ACCAGAGCAGCGTGTCCGAGT 0.527 0 148.0 138.0 141.0 9 125273104.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS35121.1 9q33.2 2013-09-20 ENSG00000197233 ENSG00000197233 26740.0 26740.0 """GPCR / Class A : Olfactory receptors""" 8209.0 protein-coding gene gene with protein product OR1J3, OR1J5 Standard XM_005251920 Approved OST044 uc011lyv.2 Q8NGS2 OTTHUMG00000020604 ENST00000335302.5:c.24C>T 9.__UNKNOWN__:g.125273104C>T A3KFL9|Q6IF14|Q96R90|Q9NZP1 __UNKNOWN__ CCDS35121.1 OR1J2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053932.1 + ENST00000335302.5 Silent SNP PCPG-TCGA-SR-A6N0-Normal-SM-5EMMD NOTCH1 4851 broad.mit.edu 37 9 139414008 139414008 + Missense_Mutation SNP C C T TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr9:139414008C>T ENST00000277541.6 - 5.0 827 c.752G>A c.(751-753)gGc>gAc p.G251D NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 251.0 EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}. anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) 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) 1359.0 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ACAGTTCTGGCCGGTGAAGCC 0.622 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) Dom yes 9 9q34.3 4851.0 """Notch homolog 1, translocation-associated (Drosophila) (TAN1)""" L 0 93.0 115.0 108.0 9 139414008.0 2039.0 4193.0 6232.0 SO:0001583 missense AF308602 CCDS43905.1 9q34.3 2013-01-10 2010-06-24 ENSG00000148400 ENSG00000148400 4851.0 4851.0 """Ankyrin repeat domain containing""" 7881.0 protein-coding gene gene with protein product 190198 """Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)""" TAN1 1831692 Standard NM_017617 NM_017617 Approved uc004chz.3 P46531 OTTHUMG00000020935 ENST00000277541.6:c.752G>A 9.__UNKNOWN__:g.139414008C>T ENSP00000277541:p.Gly251Asp Q59ED8|Q5SXM3 __UNKNOWN__ CCDS43905.1 . . . . . . . . . . C 28.8 4.955174 0.92726 . . ENSG00000148400 ENST00000277541 D 0.99105 -5.43 5.12 5.12 0.69794 EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1); 0.000000 0.85682 D 0.000000 D 0.99411 0.9792 M 0.92833 3.35 0.80722 D 1 D 0.63046 0.992 D 0.70016 0.967 D 0.98604 1.0660 10 0.66056 D 0.02 . 16.0241 0.80528 0.0:1.0:0.0:0.0 . 251 P46531 NOTC1_HUMAN D 251 ENSP00000277541:G251D ENSP00000277541:G251D G - 2 0 NOTCH1 138533829 1.000000 0.71417 0.945000 0.38365 0.820000 0.46376 7.653000 0.83643 2.381000 0.81170 0.561000 0.74099 GGC NOTCH1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055087.1 - ENST00000277541.6 Missense_Mutation SNP PCPG-TCGA-SR-A6N0-Normal-SM-5EMMD ALG6 29929 broad.mit.edu 37 1 63877718 63877718 + Frame_Shift_Del DEL C C - TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr1:63877718delC ENST00000371108.4 + 9.0 1107 c.802delC c.(802-804)cgtfs p.R268fs ALG6_ENST00000263440.4_Frame_Shift_Del_p.R270fs NM_013339.3 NP_037471.2 Q9Y672 ALG6_HUMAN ALG6, alpha-1,3-glucosyltransferase 268.0 cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) glucosyltransferase activity (GO:0046527) endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13.0 CCCGGTTGATCGTGGATTATT 0.438 0 157.0 150.0 152.0 1 63877718.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant AF063604 CCDS30735.1 1p31.3 2013-03-01 2013-03-01 ENSG00000088035 ENSG00000088035 29929.0 29929.0 2.4.1.267 23157.0 protein-coding gene gene with protein product """dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase""" 604566 """asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)""" 10359825, 11875054 Standard NM_013339 NM_013339 Approved uc021oof.1 Q9Y672 OTTHUMG00000009140 ENST00000371108.4:c.802delC 1.__UNKNOWN__:g.63877718delC ENSP00000360149:p.Arg268fs B3KMU2|Q5SXR9|Q9H3I0 __UNKNOWN__ CCDS30735.1 ALG6-001 KNOWN non_canonical_conserved|basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000025330.2 + ENST00000371108.4 Frame_Shift_Del DEL PCPG-TCGA-SR-A6N0-Normal-SM-5EMMD Unknown 0 bcgsc.ca 37 12 69678358 69678358 + RNA SNP A A G TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr12:69678358A>G CPSF6 (10220 upstream) : LYZ (63762 downstream) TAATGGCACAATCATCTAGAA 0.383 0 SO:0001628 intergenic_variant 12.__UNKNOWN__:g.69678358A>G __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-SR-A6N0-Normal-SM-5EMMD TANGO2 0 ucsc.edu 37 22 20039994 20039994 + Missense_Mutation SNP A A G TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr22:20039994A>G ENST00000327374.4 + 4.0 330 c.152A>G c.(151-153)gAc>gGc p.D51G TANGO2_ENST00000401833.1_Missense_Mutation_p.D92G|TANGO2_ENST00000401886.1_Missense_Mutation_p.D51G|TANGO2_ENST00000479679.1_3'UTR|TANGO2_ENST00000398042.2_Missense_Mutation_p.D51G|TANGO2_ENST00000434570.2_Missense_Mutation_p.D92G|TANGO2_ENST00000456048.1_Missense_Mutation_p.D56G|TANGO2_ENST00000432883.1_Missense_Mutation_p.D51G|TANGO2_ENST00000447208.2_Missense_Mutation_p.D51G|TANGO2_ENST00000420290.2_5'UTR NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4 NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3 Q6ICL3 TNG2_HUMAN transport and golgi organization 2 homolog (Drosophila) 51.0 ACAGGGCTGGACATGGAGGAA 0.617 0 97.0 66.0 76.0 22 20039994.0 2198.0 4299.0 6497.0 SO:0001583 missense CCDS13772.1, CCDS63404.1, CCDS63405.1, CCDS63406.1, CCDS63407.1, CCDS74821.1, CCDS74822.1 22q11.21 2012-12-13 2012-12-13 2012-12-13 ENSG00000183597 ENSG00000183597 128989.0 128989.0 25439.0 protein-coding gene gene with protein product """chromosome 22 open reading frame 25""" C22orf25 12477932 Standard NM_152906 XM_005261222 Approved DKFZp761P1121 uc002zrc.1 Q6ICL3 OTTHUMG00000150510 ENST00000327374.4:c.152A>G 22.__UNKNOWN__:g.20039994A>G ENSP00000332721:p.Asp51Gly A8MUE9|B7WNV6|B7Z583|B7Z730|D3DX23|Q8IW05|Q8NAL0|Q8TCS0|Q96M16 __UNKNOWN__ CCDS13772.1 . . . . . . . . . . A 24.1 4.495367 0.85069 . . ENSG00000183597 ENST00000401886;ENST00000432198;ENST00000447208;ENST00000398042;ENST00000450664;ENST00000327374;ENST00000432883;ENST00000401833;ENST00000434168;ENST00000434570;ENST00000456048 T;T;T;T;T;T;T;T;T;T;T 0.41065 1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01 5.16 5.16 0.70880 . 0.000000 0.85682 D 0.000000 T 0.76644 0.4016 H 0.97874 4.095 0.80722 D 1 D;D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D;D 0.97110 1.0;1.0;1.0;1.0;1.0;1.0;1.0 D 0.85190 0.1009 10 0.87932 D 0 -42.8261 13.2424 0.60004 1.0:0.0:0.0:0.0 . 51;92;51;92;51;51;51 B7Z9Q5;B7Z730;B7Z4A5;B7WNV6;Q6AHY1;Q6ICL3;Q6ICL3-2 .;.;.;.;.;CV025_HUMAN;. G 51;51;51;51;51;51;51;92;51;92;56 ENSP00000385662:D51G;ENSP00000413850:D51G;ENSP00000389797:D51G;ENSP00000381122:D51G;ENSP00000415450:D51G;ENSP00000332721:D51G;ENSP00000402926:D51G;ENSP00000384827:D92G;ENSP00000411602:D51G;ENSP00000391262:D92G;ENSP00000403645:D56G ENSP00000332721:D51G D + 2 0 C22orf25 18419994 1.000000 0.71417 0.998000 0.56505 0.963000 0.63663 7.573000 0.82421 2.077000 0.62373 0.528000 0.53228 GAC TANGO2-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318689.2 + ENST00000327374.4 Missense_Mutation SNP PCPG-TCGA-SR-A6N0-Normal-SM-5EMMD PRAMEF1 65121 hgsc.bcm.edu 37 1 12853509 12853509 + Missense_Mutation SNP A A C rs148996974 by1000genomes TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 A A . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr1:12853509A>C ENST00000332296.7 + 2.0 236 c.133A>C c.(133-135)Agc>Cgc p.S45R NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 45.0 negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284) p.S45R(2) cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35.0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|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) GGAGGCCTTCAGCAGGAGACA 0.587 2 Substitution - Missense(2) lung(2) 114.0 118.0 117.0 1 12853509.0 2203.0 4298.0 6501.0 SO:0001583 missense AL049686 CCDS148.1 1p36.21 2013-01-17 ENSG00000116721 ENSG00000116721 65121.0 65121.0 """-""" 28840.0 protein-coding gene gene with protein product Standard NM_023013 NM_023013 Approved uc001auj.2 O95521 OTTHUMG00000001928 ENST00000332296.7:c.133A>C 1.__UNKNOWN__:g.12853509A>C ENSP00000332134:p.Ser45Arg Q9UQP2 __UNKNOWN__ CCDS148.1 . . . . . . . . . . . 2.164 -0.391486 0.04932 . . ENSG00000116721 ENST00000332296 T 0.04862 3.54 1.43 -2.65 0.06095 . 1.895630 0.02987 N 0.146375 T 0.06371 0.0164 L 0.52266 1.64 0.09310 N 1 B 0.13594 0.008 B 0.10450 0.005 T 0.37126 -0.9719 10 0.24483 T 0.36 . 2.2047 0.03933 0.3062:0.0:0.4062:0.2876 . 45 O95521 PRAM1_HUMAN R 45 ENSP00000332134:S45R ENSP00000332134:S45R S + 1 0 PRAMEF1 12776096 0.000000 0.05858 0.000000 0.03702 0.010000 0.07245 -2.431000 0.01023 -0.798000 0.04444 0.333000 0.21579 AGC PRAMEF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000005458.1 + ENST00000332296.7 Missense_Mutation SNP PCPG-TCGA-SR-A6N0-Normal-SM-5EMMD KCNH5 27133 broad.mit.edu 37 14 63511901 63511901 + Missense_Mutation SNP G G A TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr14:63511901G>A ENST00000322893.7 - 1.0 272 c.4C>T c.(4-6)Ccg>Tcg p.P2S KCNH5_ENST00000420622.2_Missense_Mutation_p.P2S|KCNH5_ENST00000394964.2_Intron|KCNH5_ENST00000394968.1_Intron NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 2.0 potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268) cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886) phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99.0 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTGCCCCCCGGCATCCTGGGT 0.602 0 53.0 47.0 49.0 14 63511901.0 2203.0 4300.0 6503.0 SO:0001583 missense U69185 CCDS9756.1, CCDS45122.1 14q23.1 2012-07-05 ENSG00000140015 ENSG00000140015 27133.0 27133.0 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels""" 6254.0 protein-coding gene gene with protein product 605716 9738473, 16382104 Standard NM_139318 NM_139318 Approved Kv10.2, H-EAG2, eag2 uc001xfx.3 Q8NCM2 OTTHUMG00000029041 ENST00000322893.7:c.4C>T 14.__UNKNOWN__:g.63511901G>A ENSP00000321427:p.Pro2Ser C9JP98 __UNKNOWN__ CCDS9756.1 . . . . . . . . . . G 19.01 3.743568 0.69418 . . ENSG00000140015 ENST00000322893;ENST00000420622 D;D 0.98876 -5.2;-5.06 5.23 5.23 0.72850 . 0.052087 0.85682 D 0.000000 D 0.98248 0.9420 M 0.72118 2.19 0.80722 D 1 P;P 0.37548 0.538;0.599 P;B 0.44359 0.447;0.103 D 0.99806 1.1038 10 0.87932 D 0 . 16.6453 0.85175 0.0:0.0:1.0:0.0 . 2;2 Q8NCM2-2;Q8NCM2 .;KCNH5_HUMAN S 2 ENSP00000321427:P2S;ENSP00000395439:P2S ENSP00000321427:P2S P - 1 0 KCNH5 62581654 1.000000 0.71417 1.000000 0.80357 0.926000 0.56050 8.118000 0.89577 2.611000 0.88343 0.563000 0.77884 CCG KCNH5-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000411747.1 - ENST00000322893.7 Missense_Mutation SNP PCPG-TCGA-TT-A6YJ-Normal-SM-5EMM6 IGKV3-20 0 broad.mit.edu 37 2 89442552 89442552 + RNA SNP A A G TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr2:89442552A>G ENST00000492167.1 - 0.0 91 immunoglobulin kappa variable 3-20 CCTGGGAGCCAGAGTAGCAGG 0.507 0 104.0 101.0 102.0 2 89442552.0 1829.0 4067.0 5896.0 X12686 2p11.2 2012-02-08 ENSG00000239951 ENSG00000239951 28912.0 28912.0 """Immunoglobulins / IGK locus""" 5817.0 other immunoglobulin gene Standard NG_000834 NG_000834 Approved OTTHUMG00000151639 ENST00000492167.1: 2.__UNKNOWN__:g.89442552A>G __UNKNOWN__ IGKV3-20-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene IG_V_gene OTTHUMT00000323388.1 - ENST00000492167.1 RNA SNP PCPG-TCGA-TT-A6YJ-Normal-SM-5EMM6 VNN2 8875 broad.mit.edu 37 6 133073759 133073759 + Missense_Mutation SNP G G T TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr6:133073759G>T ENST00000326499.6 - 4.0 791 c.667C>A c.(667-669)Ctg>Atg p.L223M VNN2_ENST00000525270.1_Missense_Mutation_p.L170M|VNN2_ENST00000525289.1_Intron NM_004665.2 NP_004656 O95498 VNN2_HUMAN vanin 2 223.0 CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}. cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939) anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886) pantetheine hydrolase activity (GO:0017159) 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) 36.0 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) TCTTTCACCAGGGTAACACCA 0.443 0 152.0 135.0 141.0 6 133073759.0 2203.0 4300.0 6503.0 SO:0001583 missense AB026705 CCDS5161.1, CCDS5162.1, CCDS56451.1 6q23-q24 2013-02-13 ENSG00000112303 ENSG00000112303 8875.0 8875.0 3.5.1.92 """Vanins""" 12706.0 protein-coding gene gene with protein product """pantetheinase""" 603571 9790769, 11491533 Standard NM_078488 Approved FOAP-4, GPI-80 uc003qdt.3 O95498 OTTHUMG00000015588 ENST00000326499.6:c.667C>A 6.__UNKNOWN__:g.133073759G>T ENSP00000322276:p.Leu223Met A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2 __UNKNOWN__ CCDS5161.1 . . . . . . . . . . G 14.08 2.428241 0.43122 . . ENSG00000112303 ENST00000326499;ENST00000525270 D;D 0.88509 -2.39;-2.39 5.41 3.38 0.38709 Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3); 0.000000 0.49916 D 0.000130 D 0.90988 0.7166 M 0.88105 2.93 0.58432 D 0.999995 D 0.57899 0.981 P 0.58577 0.841 D 0.91105 0.4917 10 0.72032 D 0.01 -8.7611 6.3535 0.21389 0.0874:0.1629:0.6325:0.1172 . 223 O95498 VNN2_HUMAN M 223;170 ENSP00000322276:L223M;ENSP00000436822:L170M ENSP00000322276:L223M L - 1 2 VNN2 133115452 0.024000 0.19004 0.870000 0.34147 0.488000 0.33401 0.043000 0.13971 1.333000 0.45449 0.609000 0.83330 CTG VNN2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000042264.2 - ENST00000326499.6 Missense_Mutation SNP PCPG-TCGA-TT-A6YJ-Normal-SM-5EMM6 RP11-622K12.1 0 broad.mit.edu 37 X 56763812 56763812 + RNA SNP A A G TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chrX:56763812A>G ENST00000374922.4 + 0.0 468 NR_015367.2 GTCAGGTCCAATGCACTCTTA 0.393 0 ENST00000374922.4: X.__UNKNOWN__:g.56763812A>G __UNKNOWN__ RP11-622K12.1-001 KNOWN basic antisense processed_transcript OTTHUMT00000056902.1 + ENST00000374922.4 RNA SNP PCPG-TCGA-TT-A6YJ-Normal-SM-5EMM6 IL2RB 0 broad.mit.edu 37 22 37538550 37538550 + Missense_Mutation SNP C C T TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr22:37538550C>T ENST00000216223.5 - 4.0 404 c.206G>A c.(205-207)cGg>cAg p.R69Q NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 69.0 cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032) external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23.0 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) TTGGTTCCACCGCCTTTCATG 0.577 0 85.0 81.0 83.0 22 37538550.0 2203.0 4300.0 6503.0 SO:0001583 missense M26062 CCDS13942.1 22q13 2011-02-15 ENSG00000100385 ENSG00000100385 3560.0 """Interleukins and interleukin receptors"", ""CD molecules""" 6009.0 protein-coding gene gene with protein product 146710 """interleukin 15 receptor, beta""" IL15RB Standard NM_000878 Approved CD122 uc003aqv.1 P14784 OTTHUMG00000150534 ENST00000216223.5:c.206G>A 22.__UNKNOWN__:g.37538550C>T ENSP00000216223:p.Arg69Gln B2R765 __UNKNOWN__ CCDS13942.1 . . . . . . . . . . c 6.394 0.440885 0.12104 . . ENSG00000100385 ENST00000216223;ENST00000453962;ENST00000429622;ENST00000445595 D;D;D;D 0.96265 -3.96;-3.96;-3.96;-3.96 4.86 -4.43 0.03568 Fibronectin, type III (1); 26.198000 0.00166 N 0.000007 D 0.89413 0.6708 N 0.12182 0.205 0.09310 N 1 B 0.12013 0.005 B 0.04013 0.001 D 0.85038 0.0921 10 0.11794 T 0.64 . 8.1845 0.31330 0.0:0.2531:0.2358:0.5111 . 69 P14784 IL2RB_HUMAN Q 69 ENSP00000216223:R69Q;ENSP00000403731:R69Q;ENSP00000402685:R69Q;ENSP00000401020:R69Q ENSP00000216223:R69Q R - 2 0 IL2RB 35868496 0.000000 0.05858 0.000000 0.03702 0.011000 0.07611 -1.231000 0.02939 -1.076000 0.03125 -0.319000 0.08680 CGG IL2RB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318792.1 - ENST00000216223.5 Missense_Mutation SNP PCPG-TCGA-TT-A6YJ-Normal-SM-5EMM6 SYT6 148281 broad.mit.edu 37 1 114680328 114680328 + Missense_Mutation SNP C C T TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr1:114680328C>T ENST00000610222.1 - 3.0 1006 c.860G>A c.(859-861)cGc>cAc p.R287H SYT6_ENST00000609117.1_Missense_Mutation_p.R202H|SYT6_ENST00000393296.1_Missense_Mutation_p.R287H|SYT6_ENST00000607941.1_Missense_Mutation_p.R202H|SYT6_ENST00000369547.1_Missense_Mutation_p.R202H Q5T7P8 SYT6_HUMAN synaptotagmin VI 287.0 C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}. acrosomal vesicle exocytosis (GO:0060478) cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021) clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215) central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37.0 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGGGTCTTGCGGTGCACCCG 0.547 0 C HIS/ARG 0,4406 0,0,2203 128.0 121.0 123.0 605 5.5 1.0 1 123.0 1,8599 1.2+/-3.3 0,1,4299 no missense SYT6 NM_205848.2 29 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 probably-damaging 202/426 114680328.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense CCDS871.1 1p13.1 2013-01-21 ENSG00000134207 ENSG00000134207 148281.0 148281.0 """Synaptotagmins""" 18638.0 protein-coding gene gene with protein product 607718 11543631 Standard NM_205848 NM_205848 Approved uc021orz.1 Q5T7P8 OTTHUMG00000011755 ENST00000610222.1:c.860G>A 1.__UNKNOWN__:g.114680328C>T ENSP00000476396:p.Arg287His B1AMB8|B3KPK1 __UNKNOWN__ . . . . . . . . . . C 34 5.311632 0.95655 0.0 1.16E-4 ENSG00000134207 ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545 T;T;T;T 0.70282 -0.47;-0.47;-0.47;-0.47 5.46 5.46 0.80206 C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1); 0.000000 0.85682 D 0.000000 T 0.76471 0.3992 L 0.39467 1.215 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 T 0.78942 -0.2005 10 0.87932 D 0 . 19.3096 0.94182 0.0:1.0:0.0:0.0 . 287 Q5T7P8 SYT6_HUMAN H 202;287;202;287 ENSP00000358560:R202H;ENSP00000376974:R287H;ENSP00000358559:R202H;ENSP00000358558:R287H ENSP00000358558:R287H R - 2 0 SYT6 114481851 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.815000 0.86186 2.571000 0.86741 0.655000 0.94253 CGC SYT6-004 KNOWN not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000314819.2 - ENST00000610222.1 Missense_Mutation SNP PCPG-TCGA-TT-A6YJ-Normal-SM-5EMM6 ANKRD30B 374860 broad.mit.edu 37 18 14852025 14852025 + Missense_Mutation SNP G G T TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr18:14852025G>T ENST00000358984.4 + 36.0 3905 c.3725G>T c.(3724-3726)aGc>aTc p.S1242I NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1242.0 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22.0 AAATCCAAAAGCCCAAAAATT 0.363 0 9.0 9.0 9.0 18 14852025.0 690.0 1580.0 2270.0 SO:0001583 missense BC028407 CCDS54182.1 18p11.21 2013-01-10 ENSG00000180777 ENSG00000180777 374860.0 374860.0 """Ankyrin repeat domain containing""" 24165.0 protein-coding gene gene with protein product 11280766 Standard NM_001145029 NM_001145029 Approved NY-BR-1.1 uc010dlo.2 Q9BXX2 ENST00000358984.4:c.3725G>T 18.__UNKNOWN__:g.14852025G>T ENSP00000351875:p.Ser1242Ile B4DGP1|F8WAG3|Q4G175 __UNKNOWN__ CCDS54182.1 . . . . . . . . . . G 7.110 0.575865 0.13623 . . ENSG00000180777 ENST00000358984;ENST00000320584;ENST00000277669 T 0.17054 2.3 1.39 -1.8 0.07907 . . . . . T 0.19167 0.0460 M 0.71206 2.165 0.80722 D 1 P;D 0.62365 0.914;0.991 B;P 0.47102 0.198;0.537 T 0.18935 -1.0321 9 0.62326 D 0.03 . 3.6651 0.08253 0.2381:0.2329:0.529:0.0 . 1327;1242 Q9BXX2;F8WAG3 AN30B_HUMAN;. I 1242;636;662 ENSP00000351875:S1242I ENSP00000277669:S662I S + 2 0 ANKRD30B 14842025 0.020000 0.18652 0.207000 0.23584 0.132000 0.20833 0.093000 0.15086 -0.515000 0.06479 0.173000 0.16961 AGC ANKRD30B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000443557.1 + ENST00000358984.4 Missense_Mutation SNP PCPG-TCGA-TT-A6YJ-Normal-SM-5EMM6 NF1 4763 broad.mit.edu 37 17 29550489 29550489 + Missense_Mutation SNP G G C TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr17:29550489G>C ENST00000358273.4 + 16.0 2132 c.1749G>C c.(1747-1749)aaG>aaC p.K583N NF1_ENST00000356175.3_Missense_Mutation_p.K583N NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 583.0 K -> R (in NF1; dbSNP:rs199474760). {ECO:0000269|PubMed:10712197}. actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060) axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634) phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099) p.0?(8)|p.?(4) 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) 599.0 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) ACATCTGCAAGAAATTAACTA 0.323 """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) yes Rec yes Neurofibromatosis type 1 17 17q12 4763.0 neurofibromatosis type 1 gene O 12 Whole gene deletion(8)|Unknown(4) soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1) 67.0 70.0 69.0 17 29550489.0 2203.0 4297.0 6500.0 SO:0001583 missense Familial Cancer Database NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome CCDS11264.1, CCDS42292.1, CCDS45645.1 17q11.2 2014-09-17 2008-07-31 ENSG00000196712 ENSG00000196712 4763.0 4763.0 7765.0 protein-coding gene gene with protein product """neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease""" 613113 1715669 Standard NM_000267 NM_000267 Approved uc002hgg.3 P21359 OTTHUMG00000132871 ENST00000358273.4:c.1749G>C 17.__UNKNOWN__:g.29550489G>C ENSP00000351015:p.Lys583Asn O00662|Q14284|Q14930|Q14931|Q9UMK3 __UNKNOWN__ CCDS42292.1 . . . . . . . . . . G 13.55 2.271482 0.40194 . . ENSG00000196712 ENST00000358273;ENST00000356175;ENST00000456735 T;T;T 0.65732 -0.17;-0.17;3.0 5.33 4.34 0.51931 Armadillo-type fold (1); 0.066506 0.64402 D 0.000009 T 0.42944 0.1225 N 0.19112 0.55 0.80722 D 1 B;B;B 0.30281 0.224;0.275;0.06 B;B;B 0.27715 0.076;0.082;0.021 T 0.33111 -0.9881 10 0.27082 T 0.32 . 10.4758 0.44663 0.0737:0.1353:0.791:0.0 . 583;583;583 E1P657;P21359-2;P21359 .;.;NF1_HUMAN N 583;583;249 ENSP00000351015:K583N;ENSP00000348498:K583N;ENSP00000389907:K249N ENSP00000348498:K583N K + 3 2 NF1 26574615 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 2.562000 0.45914 2.644000 0.89710 0.655000 0.94253 AAG NF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256351.2 + ENST00000358273.4 Missense_Mutation SNP PCPG-TCGA-TT-A6YJ-Normal-SM-5EMM6 IL34 146433 broad.mit.edu 37 16 70688489 70688489 + Missense_Mutation SNP T T C TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr16:70688489T>C ENST00000569641.1 + 2.0 413 IL34_ENST00000288098.2_Missense_Mutation_p.M26T|IL34_ENST00000566361.1_Start_Codon_SNP_p.M1T|IL34_ENST00000429149.2_Missense_Mutation_p.M26T Q6ZMJ4 IL34_HUMAN interleukin 34 inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934) extracellular space (GO:0005615) macrophage colony-stimulating factor receptor binding (GO:0005157) breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2) 17.0 CCTTTGGAGATGTGGCCCTTG 0.567 OREG0023916 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 361.0 247.0 285.0 16 70688489.0 2198.0 4300.0 6498.0 SO:0001627 intron_variant BC029804 CCDS10895.1 16q22.1 2008-08-01 2008-06-04 2008-06-04 ENSG00000157368 ENSG00000157368 146433.0 146433.0 """Interleukins and interleukin receptors""" 28529.0 protein-coding gene gene with protein product 612081 """chromosome 16 open reading frame 77""" C16orf77 18467591 Standard NM_152456 NM_152456 Approved MGC34647, IL-34 uc002ezh.2 Q6ZMJ4 OTTHUMG00000137581 ENST00000569641.1:c.414-2016T>C 16.__UNKNOWN__:g.70688489T>C 1124.0 B2RC28|B2Z4A8|B2ZC70|Q8N6L2 __UNKNOWN__ . . . . . . . . . . T 5.554 0.287079 0.10513 . . ENSG00000157368 ENST00000429149;ENST00000288098 T;T 0.40756 1.02;1.02 4.13 1.61 0.23674 . 1.290590 0.05627 N 0.580966 T 0.33847 0.0877 L 0.51422 1.61 0.19300 N 0.999975 B;B 0.13145 0.007;0.007 B;B 0.09377 0.004;0.004 T 0.24119 -1.0169 10 0.30078 T 0.28 -2.2395 2.5238 0.04686 0.2008:0.2217:0.0:0.5775 . 26;26 Q6ZMJ4-2;Q6ZMJ4 .;IL34_HUMAN T 26 ENSP00000397863:M26T;ENSP00000288098:M26T ENSP00000288098:M26T M + 2 0 IL34 69245990 0.998000 0.40836 0.996000 0.52242 0.020000 0.10135 0.691000 0.25467 0.715000 0.32103 0.374000 0.22700 ATG IL34-004 PUTATIVE basic|exp_conf processed_transcript protein_coding OTTHUMT00000434925.1 + ENST00000569641.1 Intron SNP PCPG-TCGA-TT-A6YJ-Normal-SM-5EMM6 TAF1L 138474 broad.mit.edu 37 9 32633094 32633094 + Silent SNP A A T TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr9:32633094A>T ENST00000242310.4 - 1.0 2573 c.2484T>A c.(2482-2484)gtT>gtA p.V828V NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 828.0 DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357) transcription factor TFIID complex (GO:0005669) DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025) 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) 159.0 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GGTAAATAAAAACCTGTAGAA 0.438 0 115.0 119.0 118.0 9 32633094.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF390562 CCDS35003.1 9p12 2007-07-27 2007-07-27 ENSG00000122728 ENSG00000122728 138474.0 138474.0 18056.0 protein-coding gene gene with protein product 607798 """TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa""" 12217962 Standard NM_153809 Approved uc003zrg.1 Q8IZX4 OTTHUMG00000019747 ENST00000242310.4:c.2484T>A 9.__UNKNOWN__:g.32633094A>T Q0VG57 __UNKNOWN__ CCDS35003.1 TAF1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052012.2 - ENST00000242310.4 Silent SNP PCPG-TCGA-TT-A6YJ-Normal-SM-5EMM6 DLAT 1737 broad.mit.edu 37 11 111930686 111930690 + Frame_Shift_Del DEL TTGTG TTGTG - TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr11:111930686_111930690delTTGTG ENST00000393051.1 + 10.0 1292_1296 c.1259_1263delTTGTG c.(1258-1263)attgtgfs p.IV420fs DLAT_ENST00000537636.1_Frame_Shift_Del_p.IV296fs|DLAT_ENST00000280346.6_Frame_Shift_Del_p.IV525fs P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase 525.0 Catalytic. {ECO:0000250}. cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099) mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739) dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1) 22.0 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) ATCACACCTATTGTGTTTAATGCAC 0.351 0 SO:0001589 frameshift_variant Y00978 CCDS8354.1 11q23.1 2008-02-05 2008-02-04 ENSG00000150768 ENSG00000150768 1737.0 1737.0 2.3.1.12 2896.0 protein-coding gene gene with protein product """E2 component of pyruvate dehydrogenase complex""" 608770 DLTA 8102256 Standard NM_001931 NM_001931 Approved PDC-E2 uc001pmo.3 P10515 OTTHUMG00000133751 ENST00000393051.1:c.1259_1263delTTGTG 11.__UNKNOWN__:g.111930686_111930690delTTGTG ENSP00000376771:p.Ile420fs Q16783|Q53EP3 __UNKNOWN__ DLAT-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000258168.1 + ENST00000393051.1 Frame_Shift_Del DEL PCPG-TCGA-TT-A6YJ-Normal-SM-5EMM6 Unknown 0 bcgsc.ca 37 5 54153497 54153497 + RNA SNP C C T TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr5:54153497C>T AC112198.2 (4721 upstream) : RP11-45H22.3 (98565 downstream) TTTTGTAAGCCTTGATAATCA 0.418 0 SO:0001628 intergenic_variant 5.__UNKNOWN__:g.54153497C>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-TT-A6YJ-Normal-SM-5EMM6 MYO1B 4430 ucsc.edu 37 2 192267404 192267404 + Missense_Mutation SNP A A T TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr2:192267404A>T ENST00000392318.3 + 24.0 2763 c.2516A>T c.(2515-2517)cAt>cTt p.H839L MYO1B_ENST00000339514.4_Intron|MYO1B_ENST00000304164.4_Missense_Mutation_p.H839L|MYO1B_ENST00000439065.2_Missense_Mutation_p.H84L|MYO1B_ENST00000392316.1_Missense_Mutation_p.H810L NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB 839.0 IQ 6. {ECO:0000255|PROSITE- ProRule:PRU00116}. actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892) actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55.0 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) AGGCGTAAGCATGCAGTTGCT 0.453 0 194.0 154.0 166.0 2 192267404.0 1568.0 3582.0 5150.0 SO:0001583 missense L29138 CCDS2311.1, CCDS46477.1 2q12-q34 2011-09-27 ENSG00000128641 ENSG00000128641 4430.0 4430.0 """Myosins / Myosin superfamily : Class I""" 7596.0 protein-coding gene gene with protein product 606537 8022818, 8449985 Standard NM_012223 NM_012223 Approved myr1 uc010fsg.2 O43795 OTTHUMG00000132718 ENST00000392318.3:c.2516A>T 2.__UNKNOWN__:g.192267404A>T ENSP00000376132:p.His839Leu O43794|Q7Z6L5 __UNKNOWN__ CCDS46477.1 . . . . . . . . . . A 10.95 1.494357 0.26774 . . ENSG00000128641 ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065 D;D;T;T 0.86956 -2.19;-2.19;-0.51;-0.51 5.72 4.58 0.56647 . 0.103990 0.64402 D 0.000003 T 0.69513 0.3119 N 0.08118 0 0.51767 D 0.999934 B;B 0.29432 0.244;0.148 B;B 0.21917 0.025;0.037 T 0.66783 -0.5836 10 0.11485 T 0.65 . 9.8314 0.40944 0.923:0.0:0.077:0.0 . 84;839 E7EPB4;O43795 .;MYO1B_HUMAN L 839;839;810;84 ENSP00000376132:H839L;ENSP00000306382:H839L;ENSP00000376130:H810L;ENSP00000391442:H84L ENSP00000306382:H839L H + 2 0 MYO1B 191975649 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 6.808000 0.75206 2.180000 0.69256 0.459000 0.35465 CAT MYO1B-010 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000334774.1 + ENST00000392318.3 Missense_Mutation SNP PCPG-TCGA-TT-A6YJ-Normal-SM-5EMM6 PLEKHA7 144100 broad.mit.edu 37 11 16863161 16863161 + Missense_Mutation SNP C C A TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr11:16863161C>A ENST00000531066.1 - 9.0 846 c.805G>T c.(805-807)Gac>Tac p.D269Y PLEKHA7_ENST00000355661.3_Missense_Mutation_p.D269Y|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.D269Y|PLEKHA7_ENST00000532079.1_Intron Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 269.0 PH. {ECO:0000255|PROSITE- ProRule:PRU00145}. epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218) centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915) delta-catenin binding (GO:0070097) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37.0 GCGTTCATGTCCTCCTGGGTG 0.592 0 137.0 114.0 122.0 11 16863161.0 2200.0 4294.0 6494.0 SO:0001583 missense BC033239 CCDS31434.1 11p15 2013-01-10 ENSG00000166689 ENSG00000166689 144100.0 144100.0 """Pleckstrin homology (PH) domain containing""" 27049.0 protein-coding gene gene with protein product 612686 12477932 Standard NM_175058 NM_175058 Approved DKFZp686M22243 uc001mmo.3 Q6IQ23 OTTHUMG00000165954 ENST00000531066.1:c.805G>T 11.__UNKNOWN__:g.16863161C>A ENSP00000435389:p.Asp269Tyr B4DK33|B4DWC3|Q86VZ7 __UNKNOWN__ . . . . . . . . . . C 26.4 4.731228 0.89390 . . ENSG00000166689 ENST00000531066;ENST00000355661;ENST00000448080 T;T;T 0.16073 2.37;2.37;2.37 5.16 5.16 0.70880 Pleckstrin homology-type (1);Pleckstrin homology domain (3); 0.140286 0.64402 D 0.000007 T 0.56093 0.1962 H 0.95574 3.69 0.80722 D 1 D;D 0.61080 0.989;0.98 D;P 0.69307 0.963;0.834 T 0.69573 -0.5109 10 0.87932 D 0 -33.9177 19.2366 0.93862 0.0:1.0:0.0:0.0 . 269;269 E9PKC0;Q6IQ23 .;PKHA7_HUMAN Y 269 ENSP00000435389:D269Y;ENSP00000347883:D269Y;ENSP00000416895:D269Y ENSP00000347883:D269Y D - 1 0 PLEKHA7 16819737 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 7.198000 0.77823 2.857000 0.98124 0.650000 0.86243 GAC PLEKHA7-002 PUTATIVE not_organism_supported|basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000387236.1 - ENST00000531066.1 Missense_Mutation SNP PCPG-TCGA-TT-A6YK-Normal-SM-5EMN6 DIDO1 11083 broad.mit.edu 37 20 61542656 61542656 + Silent SNP G G C TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr20:61542656G>C ENST00000266070.4 - 3.0 634 c.309C>G c.(307-309)ccC>ccG p.P103P DIDO1_ENST00000370368.1_Silent_p.P103P|DIDO1_ENST00000370371.4_Silent_p.P103P|DIDO1_ENST00000395340.1_Silent_p.P103P|DIDO1_ENST00000354665.4_Silent_p.P103P|DIDO1_ENST00000395343.1_Silent_p.P103P|DIDO1_ENST00000370366.1_Silent_p.P103P|DIDO1_ENST00000266071.5_Silent_p.P103P|DIDO1_ENST00000395335.2_Silent_p.P103P NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 103.0 apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) 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) 99.0 Breast(26;5.68e-08) CGTCTGTGGCGGGGCAGGACG 0.662 Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) 0 25.0 23.0 24.0 20 61542656.0 2195.0 4288.0 6483.0 SO:0001819 synonymous_variant AB002331 CCDS13508.2, CCDS13509.1, CCDS33506.1 20q13.33 2013-01-28 2005-11-11 2005-11-11 ENSG00000101191 ENSG00000101191 11083.0 11083.0 """Zinc fingers, PHD-type""" 2680.0 protein-coding gene gene with protein product 604140 """chromosome 20 open reading frame 158"", ""death associated transcription factor 1""" C20orf158, DATF1 10393935 Standard NM_080796 NM_033081 Approved DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1 uc002ydr.2 Q9BTC0 OTTHUMG00000032945 ENST00000266070.4:c.309C>G 20.__UNKNOWN__:g.61542656G>C A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6 __UNKNOWN__ CCDS33506.1 DIDO1-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000080091.2 - ENST00000266070.4 Silent SNP PCPG-TCGA-TT-A6YK-Normal-SM-5EMN6 PCNX 22990 broad.mit.edu 37 14 71570317 71570317 + Missense_Mutation SNP T T G TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr14:71570317T>G ENST00000304743.2 + 32.0 6472 c.6026T>G c.(6025-6027)cTt>cGt p.L2009R PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.L1898R|PCNX_ENST00000238570.5_Missense_Mutation_p.L1937R NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 2009.0 integral component of membrane (GO:0016021) 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) 87.0 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) CACGAACAGCTTAAAGACATT 0.453 0 111.0 109.0 109.0 14 71570317.0 2203.0 4300.0 6503.0 SO:0001583 missense AF233450, AB018348 CCDS9806.1 14q24.2 2014-07-03 22990.0 22990.0 19740.0 protein-coding gene gene with protein product """pecanex-like 1 (Drosophila)""" PCNXL1 9244429, 15777640 Standard NM_014982 NM_014982 Approved KIAA0995, KIAA0805, pecanex uc001xmo.2 Q96RV3 ENST00000304743.2:c.6026T>G 14.__UNKNOWN__:g.71570317T>G ENSP00000304192:p.Leu2009Arg B2RTR6|O94897|Q96AI7|Q9Y2J9 __UNKNOWN__ CCDS9806.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 24.5|24.5 4.534679|4.534679 0.85812|0.85812 .|. .|. ENSG00000100731|ENSG00000100731 ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691 T;T;T|T 0.52983|0.48836 0.64;0.64;0.64|0.8 5.38|5.38 5.38|5.38 0.77491|0.77491 .|. 0.000000|0.000000 0.85682|0.85682 D|D 0.000000|0.000000 T|T 0.69223|0.69223 0.3087|0.3087 M|M 0.86178|0.86178 2.8|2.8 0.41269|0.41269 D|D 0.986839|0.986839 D;D;D|. 0.89917|. 1.0;0.999;1.0|. D;D;D|. 0.87578|. 0.998;0.99;0.997|. T|T 0.74312|0.74312 -0.3706|-0.3706 10|7 0.87932|. D|. 0|. .|. 15.693|15.693 0.77469|0.77469 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. 1937;1898;2009|. Q96RV3-3;B2RTR6;Q96RV3|. .;.;PCX1_HUMAN|. R|V 2009;1937;1898|996 ENSP00000304192:L2009R;ENSP00000238570:L1937R;ENSP00000396617:L1898R|ENSP00000451016:L996V ENSP00000238570:L1937R|. L|L +|+ 2|1 0|2 PCNX|PCNX 70640070|70640070 1.000000|1.000000 0.71417|0.71417 0.975000|0.975000 0.42487|0.42487 0.949000|0.949000 0.60115|0.60115 7.698000|7.698000 0.84413|0.84413 2.160000|2.160000 0.67779|0.67779 0.533000|0.533000 0.62120|0.62120 CTT|TTA PCNX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000412479.1 + ENST00000304743.2 Missense_Mutation SNP PCPG-TCGA-TT-A6YK-Normal-SM-5EMN6 SETDB2 83852 broad.mit.edu 37 13 50055170 50055170 + Silent SNP G G A TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr13:50055170G>A ENST00000317257.8 + 9.0 1935 c.1110G>A c.(1108-1110)caG>caA p.Q370Q SETDB2_ENST00000258672.5_Silent_p.Q358Q|SETDB2_ENST00000354234.4_Silent_p.Q358Q NM_031915.2 NP_114121.2 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 370.0 SET. {ECO:0000255|PROSITE- ProRule:PRU00190}. chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892) chromosome (GO:0005694)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15.0 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) TGAGGTTACAGGTGTTCAAAA 0.398 0 175.0 150.0 159.0 13 50055170.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF334407 CCDS9417.1, CCDS53868.1 13q14 2011-07-01 2003-05-06 2003-05-09 ENSG00000136169 ENSG00000136169 83852.0 83852.0 """Chromatin-modifying enzymes / K-methyltransferases""" 20263.0 protein-coding gene gene with protein product 607865 """chromosome 13 open reading frame 4""" C13orf4 11306461 Standard NM_031915 NM_031915 Approved CLLD8, CLLL8, KMT1F uc001vda.3 Q96T68 OTTHUMG00000016918 ENST00000317257.8:c.1110G>A 13.__UNKNOWN__:g.50055170G>A Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6 __UNKNOWN__ CCDS9417.1 SETDB2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000044925.1 + ENST00000317257.8 Silent SNP PCPG-TCGA-TT-A6YK-Normal-SM-5EMN6 LILRA4 23547 broad.mit.edu 37 19 54848254 54848254 + Silent SNP G G A TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr19:54848254G>A ENST00000291759.4 - 6.0 1169 c.1113C>T c.(1111-1113)taC>taT p.Y371Y AC008984.2_ENST00000507363.1_RNA NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 371.0 Ig-like C2-type 4. immune system process (GO:0002376) integral component of membrane (GO:0016021) NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32.0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) TATGAGCTCCGTACATTGATC 0.587 0 170.0 154.0 160.0 19 54848254.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF041261 CCDS12890.1 19q13.4 2013-01-11 ENSG00000239961 ENSG00000239961 23547.0 23547.0 """Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 15503.0 protein-coding gene gene with protein product 607517 10941842 Standard NM_012276 NM_012276 Approved ILT7, CD85g uc002qfj.3 P59901 OTTHUMG00000065355 ENST00000291759.4:c.1113C>T 19.__UNKNOWN__:g.54848254G>A Q32MC4 __UNKNOWN__ CCDS12890.1 LILRA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000140229.2 - ENST00000291759.4 Silent SNP PCPG-TCGA-TT-A6YK-Normal-SM-5EMN6 GFI1B 8328 broad.mit.edu 37 9 135866270 135866270 + Missense_Mutation SNP C C A TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr9:135866270C>A ENST00000339463.3 + 11.0 1645 c.826C>A c.(826-828)Cac>Aac p.H276N GFI1B_ENST00000450530.1_Missense_Mutation_p.H276N|GFI1B_ENST00000534944.1_Missense_Mutation_p.H230N|GFI1B_ENST00000372123.1_Missense_Mutation_p.H230N|GFI1B_ENST00000372124.1_Missense_Mutation_p.H230N|GFI1B_ENST00000372122.1_Missense_Mutation_p.H276N Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor 276.0 Interaction with ARIH2.|Mediates interaction with GATA1. cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366) nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21.0 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) TGAGAAGCCGCACAAGTGCCA 0.652 0 64.0 56.0 59.0 9 135866270.0 2203.0 4300.0 6503.0 SO:0001583 missense AF081946 CCDS6957.1, CCDS48049.1 9q34.13 2014-09-17 2007-10-04 ENSG00000165702 ENSG00000165702 8328.0 8328.0 """Zinc fingers, C2H2-type""" 4238.0 protein-coding gene gene with protein product 604383 """growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)""" 9878267 Standard NM_004188 NM_001135031 Approved uc004ccg.3 Q5VTD9 OTTHUMG00000020848 ENST00000339463.3:c.826C>A 9.__UNKNOWN__:g.135866270C>A ENSP00000344782:p.His276Asn O95270|Q5VTD8|Q6FHZ2|Q6T888 __UNKNOWN__ CCDS6957.1 . . . . . . . . . . C 22.2 4.253435 0.80135 . . ENSG00000165702 ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122 T;T;T;T;T;T 0.20738 2.05;2.05;2.05;2.05;2.05;2.05 4.9 4.9 0.64082 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.85682 D 0.000000 T 0.47838 0.1467 M 0.77820 2.39 0.80722 D 1 D;P 0.54207 0.965;0.925 D;P 0.64595 0.927;0.9 T 0.51957 -0.8639 10 0.72032 D 0.01 -21.2754 17.4238 0.87521 0.0:1.0:0.0:0.0 . 230;276 Q5VTD9-2;Q5VTD9 .;GFI1B_HUMAN N 230;276;276;230;230;276 ENSP00000361197:H230N;ENSP00000344782:H276N;ENSP00000409546:H276N;ENSP00000446134:H230N;ENSP00000361196:H230N;ENSP00000361195:H276N ENSP00000344782:H276N H + 1 0 GFI1B 134856091 1.000000 0.71417 0.950000 0.38849 0.783000 0.44284 7.776000 0.85560 2.425000 0.82216 0.462000 0.41574 CAC GFI1B-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393840.1 + ENST00000339463.3 Missense_Mutation SNP PCPG-TCGA-TT-A6YK-Normal-SM-5EMN6 PZP 5858 broad.mit.edu 37 12 9355250 9355250 + Missense_Mutation SNP C C T TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr12:9355250C>T ENST00000261336.2 - 3.0 326 c.298G>A c.(298-300)Gca>Aca p.A100T NM_002864.2 NP_002855.2 P20742 PZP_HUMAN pregnancy-zone protein 100.0 female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102.0 CTAAGGAATGCCACCTCTGAA 0.463 Melanoma(125;1402 1695 4685 34487 38571) 0 80.0 81.0 81.0 12 9355250.0 2203.0 4300.0 6503.0 SO:0001583 missense X54380, M24416, X51541 CCDS8600.1 12p13-p12.2 2008-02-01 ENSG00000126838 ENSG00000126838 5858.0 5858.0 9750.0 protein-coding gene gene with protein product 176420 Standard NM_002864 NM_002864 Approved CPAMD6 uc001qvl.3 P20742 OTTHUMG00000154915 ENST00000261336.2:c.298G>A 12.__UNKNOWN__:g.9355250C>T ENSP00000261336:p.Ala100Thr A6ND27|Q15273|Q2NKL2|Q7M4N7 __UNKNOWN__ CCDS8600.1 . . . . . . . . . . C 12.70 2.015477 0.35511 . . ENSG00000126838 ENST00000261336 T 0.44083 0.93 2.33 1.33 0.21861 . 0.388539 0.20549 N 0.090148 T 0.28995 0.0720 L 0.43152 1.355 0.18873 N 0.999984 B 0.23442 0.085 B 0.22601 0.04 T 0.14282 -1.0478 10 0.38643 T 0.18 . 4.559 0.12151 0.0:0.7849:0.0:0.2151 . 100 P20742 PZP_HUMAN T 100 ENSP00000261336:A100T ENSP00000261336:A100T A - 1 0 PZP 9246517 0.000000 0.05858 0.262000 0.24481 0.643000 0.38383 0.500000 0.22562 0.487000 0.27698 0.460000 0.39030 GCA PZP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337624.1 - ENST00000261336.2 Missense_Mutation SNP PCPG-TCGA-TT-A6YK-Normal-SM-5EMN6 FLG 2312 broad.mit.edu 37 1 152280504 152280504 + Silent SNP G G A rs141571186 TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr1:152280504G>A ENST00000368799.1 - 3.0 6893 c.6858C>T c.(6856-6858)caC>caT p.H2286H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2286.0 Ser-rich. establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275) cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198) 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) 424.0 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTGTCTTCGTGATGGGACC 0.557 Ichthyosis 0 256.0 261.0 259.0 1 152280504.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant Familial Cancer Database X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris XM_048104 CCDS30860.1 1q21.3 2013-01-10 ENSG00000143631 ENSG00000143631 2312.0 2312.0 """EF-hand domain containing""" 3748.0 protein-coding gene gene with protein product 135940 2740331, 2248957, 16444271 Standard NM_002016 NM_002016 Approved uc001ezu.1 P20930 OTTHUMG00000012202 ENST00000368799.1:c.6858C>T 1.__UNKNOWN__:g.152280504G>A Q01720|Q5T583|Q9UC71 __UNKNOWN__ CCDS30860.1 FLG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033742.1 - ENST00000368799.1 Silent SNP PCPG-TCGA-TT-A6YK-Normal-SM-5EMN6 XPO7 23039 broad.mit.edu 37 8 21827087 21827087 + Splice_Site SNP C C A TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr8:21827087C>A ENST00000252512.9 + 3.0 359 c.259C>A c.(259-261)Cgg>Agg p.R87R XPO7_ENST00000434536.1_Splice_Site_p.R87R|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Splice_Site_p.R88R NM_015024.4 NP_055839.3 Q9UIA9 XPO7_HUMAN exportin 7 87.0 Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}. mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611) cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634) nuclear export signal receptor activity (GO:0005049) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36.0 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) AATAGATATTCGTAAGTGGAG 0.398 0 79.0 75.0 76.0 8 21827087.0 1856.0 4105.0 5961.0 SO:0001630 splice_region_variant AF064729 CCDS47818.1 8p21 2011-04-13 2003-03-11 2003-03-14 ENSG00000130227 ENSG00000130227 23039.0 23039.0 """Exportins""" 14108.0 protein-coding gene gene with protein product 606140 """RAN binding protein 16""" RANBP16 11024021, 9872452 Standard NM_015024 NM_015024 Approved KIAA0745 uc003xaa.4 Q9UIA9 OTTHUMG00000163789 ENST00000252512.9:c.259+1C>A 8.__UNKNOWN__:g.21827087C>A O94846|Q6PJK9|Q8NEK7 __UNKNOWN__ CCDS47818.1 . . . . . . . . . . C 17.15 3.316939 0.60524 . . ENSG00000130227 ENST00000521303 . . . 5.51 5.51 0.81932 . . . . . T 0.75354 0.3838 . . . 0.80722 D 1 . . . . . . T 0.72947 -0.4137 4 . . . -16.741 19.3771 0.94514 0.0:1.0:0.0:0.0 . . . . L 91 . . F + 3 2 XPO7 21883033 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 7.347000 0.79356 2.753000 0.94483 0.591000 0.81541 TTC XPO7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000375494.1 Silent + ENST00000252512.9 Splice_Site SNP PCPG-TCGA-TT-A6YK-Normal-SM-5EMN6 STAC3 246329 broad.mit.edu 37 12 57642948 57642948 + Silent SNP T T C TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr12:57642948T>C ENST00000332782.2 - 3.0 411 c.210A>G c.(208-210)gaA>gaG p.E70E STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Silent_p.E31E NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 70.0 Poly-Glu. intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741) identical protein binding (GO:0042802)|metal ion binding (GO:0046872) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18.0 cctcctcttcttcctcttcct 0.542 0 59.0 60.0 59.0 12 57642948.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK057013 CCDS8936.1, CCDS66405.1, CCDS66406.1 12q13.3 2014-08-12 ENSG00000185482 ENSG00000185482 246329.0 246329.0 28423.0 protein-coding gene gene with protein product 615521 12477932 Standard NM_145064 NM_001286257 Approved MGC2793 uc009zpl.2 Q96MF2 OTTHUMG00000171271 ENST00000332782.2:c.210A>G 12.__UNKNOWN__:g.57642948T>C B4DUK9|Q96HU5 __UNKNOWN__ CCDS8936.1 STAC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000412724.2 - ENST00000332782.2 Silent SNP PCPG-TCGA-TT-A6YK-Normal-SM-5EMN6 PMM1 5372 broad.mit.edu 37 22 41980004 41980005 + Missense_Mutation DNP AG AG TC TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr22:41980004_41980005AG>TC ENST00000216259.7 - 5.0 516_517 c.432_433CT>GA c.(430-435)agCTgc>agGAgc p.144_145SC>RS PMM1_ENST00000466645.1_5'UTR NM_002676.2 NP_002667.2 Q92871 PMM1_HUMAN phosphomannomutase 1 144.0 cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279) cytosol (GO:0005829)|neuronal cell body (GO:0043025) metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615) NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2) 11.0 TCCAGGGTGCAGCTCCGGCCGA 0.569 0 SO:0001583 missense CCDS14020.1 22q13 2008-12-01 ENSG00000100417 ENSG00000100417 5372.0 5372.0 5.4.2.8 9114.0 protein-coding gene gene with protein product """brain glucose-1,6-bisphosphatase""" 601786 9070917, 9271215 Standard NM_002676 NM_002676 Approved Sec53 uc003bal.2 Q92871 OTTHUMG00000150972 ENST00000216259.7:c.432_433delinsTC 22.__UNKNOWN__:g.41980004_41980005delinsTC ENSP00000216259:p.S144_C145delinsRS A8K003|Q92586 __UNKNOWN__ CCDS14020.1 PMM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320711.3 - ENST00000216259.7 Missense_Mutation DNP PCPG-TCGA-TT-A6YK-Normal-SM-5EMN6 NEURL 0 broad.mit.edu 37 10 105331472 105331472 + Missense_Mutation SNP G G A TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr10:105331472G>A ENST00000369780.4 + 3.0 951 c.542G>A c.(541-543)cGc>cAc p.R181H NEURL_ENST00000465048.1_3'UTR|NEURL_ENST00000369777.2_Missense_Mutation_p.R164H NM_004210.4 NP_004201.3 O76050 NEUL1_HUMAN 181.0 NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}. brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317) apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17.0 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) GTCTTCCACCGCATCAACGAC 0.637 0 174.0 115.0 135.0 10 105331472.0 2203.0 4300.0 6503.0 SO:0001583 missense ENST00000369780.4:c.542G>A 10.__UNKNOWN__:g.105331472G>A ENSP00000358795:p.Arg181His Q5TDR2|Q5TDR3|Q8TAN0|Q9H463 __UNKNOWN__ CCDS7551.1 . . . . . . . . . . G 21.3 4.130257 0.77549 . . ENSG00000107954 ENST00000369780;ENST00000437579;ENST00000369777;ENST00000455386 T;T 0.29917 1.55;1.55 5.64 5.64 0.86602 NEUZ (2); 0.050581 0.85682 D 0.000000 T 0.42675 0.1213 L 0.46741 1.465 0.80722 D 1 D 0.71674 0.998 P 0.56612 0.802 T 0.05354 -1.0890 10 0.16896 T 0.51 -31.6928 18.6966 0.91603 0.0:0.0:1.0:0.0 . 181 O76050 NEU1A_HUMAN H 181;164;164;106 ENSP00000358795:R181H;ENSP00000358792:R164H ENSP00000358792:R164H R + 2 0 NEURL 105321462 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 8.007000 0.88571 2.648000 0.89879 0.561000 0.74099 CGC NEURL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050170.1 + ENST00000369780.4 Missense_Mutation SNP PCPG-TCGA-TT-A6YK-Normal-SM-5EMN6 TEX11 0 broad.mit.edu 37 X 69825319 69825319 + Missense_Mutation SNP T T C TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chrX:69825319T>C ENST00000395889.2 - 25.0 2199 c.2044A>G c.(2044-2046)Aca>Gca p.T682A TEX11_ENST00000344304.3_Missense_Mutation_p.T682A|TEX11_ENST00000374333.2_Missense_Mutation_p.T667A|TEX11_ENST00000374320.2_Missense_Mutation_p.T357A NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 682.0 chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130) central element (GO:0000801) 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) 48.0 Renal(35;0.156) AGTAAACATGTTTTCCGTGCA 0.393 0 120.0 100.0 107.0 X 69825319.0 2203.0 4300.0 6503.0 SO:0001583 missense AF285594 CCDS35323.1, CCDS43968.1 Xp11 2008-02-05 2007-03-13 ENSG00000120498 ENSG00000120498 56159.0 11733.0 protein-coding gene gene with protein product 300311 """testis expressed sequence 11""" 11279525 Standard NM_001003811 Approved TSGA3, TGC1 uc004dyl.3 Q8IYF3 OTTHUMG00000021782 ENST00000395889.2:c.2044A>G X.__UNKNOWN__:g.69825319T>C ENSP00000379226:p.Thr682Ala A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6 __UNKNOWN__ CCDS35323.1 . . . . . . . . . . T 13.07 2.127669 0.37533 . . ENSG00000120498 ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304 T;T;T;T 0.54279 0.58;0.58;0.58;0.58 4.83 3.63 0.41609 . 0.135266 0.48767 D 0.000170 T 0.43411 0.1246 L 0.55834 1.745 0.24834 N 0.992507 B;B 0.32467 0.172;0.372 B;B 0.33799 0.134;0.17 T 0.31166 -0.9953 9 . . . -5.4697 6.4189 0.21732 0.0:0.1146:0.0:0.8854 . 667;682 Q8IYF3-3;Q8IYF3 .;TEX11_HUMAN A 667;682;357;682 ENSP00000363453:T667A;ENSP00000379226:T682A;ENSP00000363440:T357A;ENSP00000340995:T682A . T - 1 0 TEX11 69742044 1.000000 0.71417 0.999000 0.59377 0.976000 0.68499 2.366000 0.44204 1.794000 0.52575 0.441000 0.28932 ACA TEX11-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000359072.1 - ENST00000395889.2 Missense_Mutation SNP PCPG-TCGA-TT-A6YK-Normal-SM-5EMN6 ZNF8 7554 broad.mit.edu 37 19 58797161 58797161 + Missense_Mutation SNP C C A TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr19:58797161C>A ENST00000196548.5 + 2.0 276 c.145C>A c.(145-147)Ctc>Atc p.L49I ZNF8_ENST00000608843.1_Missense_Mutation_p.L49I|CTD-3138B18.4_ENST00000600029.1_3'UTR|AC010642.1_ENST00000591325.1_3'UTR P17098 ZNF8_HUMAN zinc finger protein 8 49.0 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 19.0 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) CCAGAGGATCCTCTACCGTGA 0.537 0 182.0 166.0 171.0 19 58797161.0 2203.0 4300.0 6503.0 SO:0001583 missense M29581 CCDS12974.1 19q13.43 2013-01-08 2006-05-09 7554.0 7554.0 """Zinc fingers, C2H2-type"", ""-""" 13154.0 protein-coding gene gene with protein product 194532 """zinc finger protein 8 (clone HF.18)""" 2106481 Standard NM_021089 NM_021089 Approved HF.18, Zfp128 uc002qry.1 P17098 ENST00000196548.5:c.145C>A 19.__UNKNOWN__:g.58797161C>A ENSP00000196548:p.Leu49Ile Q6PI99 __UNKNOWN__ CCDS12974.1 . . . . . . . . . . C 17.74 3.464016 0.63513 . . ENSG00000083842 ENST00000196548 T 0.05081 3.5 4.12 4.12 0.48240 Krueppel-associated box (4); 0.000000 0.34268 N 0.004115 T 0.26846 0.0657 M 0.91872 3.25 0.25112 N 0.990706 D 0.61697 0.99 D 0.64877 0.93 T 0.11372 -1.0590 10 0.87932 D 0 -26.5681 9.4557 0.38753 0.2117:0.7883:0.0:0.0 . 49 P17098 ZNF8_HUMAN I 49 ENSP00000196548:L49I ENSP00000196548:L49I L + 1 0 ZNF8 63488973 0.656000 0.27385 0.927000 0.36925 0.832000 0.47134 1.822000 0.39052 2.281000 0.76405 0.561000 0.74099 CTC ZNF8-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS protein_coding protein_coding OTTHUMT00000459135.1 + ENST00000196548.5 Missense_Mutation SNP PCPG-TCGA-TT-A6YK-Normal-SM-5EMN6 NFATC1 4772 broad.mit.edu 37 18 77170440 77170440 + Silent SNP C C T TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr18:77170440C>T ENST00000587635.1 + 2.0 259 c.165C>T c.(163-165)gcC>gcT p.A55A NFATC1_ENST00000592223.1_Silent_p.A42A|NFATC1_ENST00000586434.1_Silent_p.A42A|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000542384.1_Silent_p.A55A|NFATC1_ENST00000591814.1_Silent_p.A55A|NFATC1_ENST00000329101.4_Silent_p.A42A|NFATC1_ENST00000253506.5_Silent_p.A55A|NFATC1_ENST00000427363.2_Silent_p.A55A|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000318065.5_Silent_p.A42A O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 55.0 calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40.0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) Pseudoephedrine(DB00852) TCAGCCCCGCCCTGCCGCTCC 0.632 GBM(151;1210 2593 28719 45011) 0 69.0 80.0 76.0 18 77170440.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U08015 CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1 18q23 2009-11-24 ENSG00000131196 ENSG00000131196 4772.0 4772.0 """Nuclear factor of activated T-cells""" 7775.0 protein-coding gene gene with protein product 600489 8202141 Standard NM_172390 NM_001278669 Approved NF-ATC, NFATc, NFAT2 uc002lnf.3 O95644 OTTHUMG00000132897 ENST00000587635.1:c.165C>T 18.__UNKNOWN__:g.77170440C>T B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3 __UNKNOWN__ NFATC1-005 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000450505.1 + ENST00000587635.1 Silent SNP PCPG-TCGA-TT-A6YK-Normal-SM-5EMN6 RP11-248G5.8 0 broad.mit.edu 37 13 52865661 52865661 + RNA SNP C C A TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr13:52865661C>A ENST00000451298.1 - 0.0 31 AAGGATGACACAATTGAATGA 0.289 0 ENST00000451298.1: 13.__UNKNOWN__:g.52865661C>A __UNKNOWN__ RP11-248G5.8-001 KNOWN basic|readthrough_transcript processed_transcript processed_transcript OTTHUMT00000471093.1 - ENST00000451298.1 RNA SNP PCPG-TCGA-TT-A6YK-Normal-SM-5EMN6 CYP21A1P 0 broad.mit.edu 37 6 31975463 31975463 + RNA SNP T T C TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr6:31975463T>C ENST00000342991.6 + 0.0 1386 NR_040090.1 cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene GCAGCGACTGTAGGAGGAGCT 0.657 0 M13935 6p21.33 2011-12-01 2003-01-14 ENSG00000204338 ENSG00000204338 1590.0 1590.0 """Cytochrome P450s""" 2599.0 pseudogene pseudogene """cytochrome P450, subfamily XXIA (steroid 21-hydroxylase), polypeptide 1 pseudogene""" CYP21P, CYP21A 3487786, 3038528 Standard NR_040090 Approved P450c21A uc021yve.1 OTTHUMG00000031026 ENST00000342991.6: 6.__UNKNOWN__:g.31975463T>C __UNKNOWN__ CYP21A1P-002 KNOWN basic retained_intron pseudogene OTTHUMT00000268795.1 + ENST00000342991.6 RNA SNP PCPG-TCGA-TT-A6YK-Normal-SM-5EMN6 UBE3C 9690 broad.mit.edu 37 7 157060410 157060410 + Silent SNP C C G TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr7:157060410C>G ENST00000348165.5 + 23.0 3573 c.3213C>G c.(3211-3213)ctC>ctG p.L1071L NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 1071.0 HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}. protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63.0 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) GTAAACTTCTCTATGCGATTG 0.567 0 125.0 117.0 119.0 7 157060410.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK127280 CCDS34789.1 7q36.3 2004-05-04 ENSG00000009335 ENSG00000009335 9690.0 9690.0 16803.0 protein-coding gene gene with protein product 614454 7584026, 11278995 Standard NM_014671 NM_014671 Approved KIAA0010, KIAA10 uc010lqs.3 Q15386 OTTHUMG00000157239 ENST00000348165.5:c.3213C>G 7.__UNKNOWN__:g.157060410C>G A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3 __UNKNOWN__ CCDS34789.1 UBE3C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000348108.1 + ENST00000348165.5 Silent SNP PCPG-TCGA-TT-A6YN-Normal-SM-5EMMW PCSK7 9159 broad.mit.edu 37 11 117090363 117090363 + Missense_Mutation SNP G G A TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr11:117090363G>A ENST00000320934.3 - 10.0 1897 c.1267C>T c.(1267-1269)Cgg>Tgg p.R423W PCSK7_ENST00000540028.1_Missense_Mutation_p.R64W NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 423.0 Peptidase S8. peptide hormone processing (GO:0016486)|protein processing (GO:0016485) integral component of Golgi membrane (GO:0030173) peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252) NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16.0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) AGGCAGGGCCGCACCTGCAGC 0.627 T IGH@ MLCLS Dom yes 11 11q23.3 9159.0 proprotein convertase subtilisin/kexin type 7 L 0 57.0 46.0 50.0 11 117090363.0 2201.0 4296.0 6497.0 SO:0001583 missense U40623 CCDS8382.1 11q23-q24 2008-02-01 ENSG00000160613 ENSG00000160613 9159.0 9159.0 8748.0 protein-coding gene gene with protein product 604872 8615762, 9820811 Standard NM_004716 XM_006718938 Approved PC7, PC8, LPC, SPC7 uc001pqr.3 Q16549 OTTHUMG00000165640 ENST00000320934.3:c.1267C>T 11.__UNKNOWN__:g.117090363G>A ENSP00000325917:p.Arg423Trp B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57 __UNKNOWN__ CCDS8382.1 . . . . . . . . . . G 27.1 4.802841 0.90623 . . ENSG00000160613 ENST00000320934;ENST00000540028;ENST00000543900 D;D 0.87887 -2.31;-2.31 5.69 4.7 0.59300 Peptidase S8/S53, subtilisin/kexin/sedolisin (3); 0.000000 0.85682 D 0.000000 D 0.94305 0.8170 M 0.88979 2.995 0.58432 D 0.999999 D 0.89917 1.0 D 0.91635 0.999 D 0.94972 0.8118 10 0.72032 D 0.01 -34.1224 16.525 0.84328 0.0:0.0:0.8607:0.1393 . 423 Q16549 PCSK7_HUMAN W 423;64;423 ENSP00000325917:R423W;ENSP00000441944:R64W ENSP00000325917:R423W R - 1 2 PCSK7 116595573 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 6.085000 0.71343 2.696000 0.92011 0.557000 0.71058 CGG PCSK7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385529.2 - ENST00000320934.3 Missense_Mutation SNP PCPG-TCGA-TT-A6YN-Normal-SM-5EMMW FBXO10 26267 broad.mit.edu 37 9 37518298 37518298 + Missense_Mutation SNP G G A TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr9:37518298G>A ENST00000432825.2 - 9.0 2386 c.2338C>T c.(2338-2340)Cgg>Tgg p.R780W FBXO10_ENST00000541829.1_Missense_Mutation_p.R305W|RP11-613M10.8_ENST00000544475.1_5'UTR NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 780.0 apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981) cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151) ubiquitin-protein transferase activity (GO:0004842) breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34.0 GBM - Glioblastoma multiforme(29;0.0107) CCACTTTGCCGGTTGCAGGAG 0.572 0 89.0 98.0 95.0 9 37518298.0 2115.0 4221.0 6336.0 SO:0001583 missense AF174598 CCDS47966.1 9p13.1 2014-01-29 2004-06-15 ENSG00000147912 ENSG00000147912 26267.0 26267.0 """F-boxes / ""other""""" 13589.0 protein-coding gene gene with protein product 609092 """F-box only protein 10""" 10531035, 10531037, 19300908 Standard NM_012166 Approved FBX10 uc004aab.3 Q9UK96 OTTHUMG00000019926 ENST00000432825.2:c.2338C>T 9.__UNKNOWN__:g.37518298G>A ENSP00000403802:p.Arg780Trp Q08AL3|Q08AL4|Q5JRT8|Q9UKC3 __UNKNOWN__ CCDS47966.1 . . . . . . . . . . G 19.13 3.767724 0.69878 . . ENSG00000147912 ENST00000432825;ENST00000541829 T;T 0.80566 -1.39;-1.39 5.36 4.4 0.53042 Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);Pectin lyase fold (1); 0.203964 0.43747 D 0.000522 T 0.69904 0.3163 N 0.14661 0.345 0.43622 D 0.996008 D;P;P 0.58620 0.983;0.86;0.86 P;B;B 0.47376 0.545;0.326;0.326 T 0.73088 -0.4093 10 0.52906 T 0.07 -14.339 10.9743 0.47456 0.0:0.0:0.6561:0.3439 . 659;305;780 Q59F51;Q08AL4;Q9UK96 .;.;FBX10_HUMAN W 780;305 ENSP00000403802:R780W;ENSP00000441307:R305W ENSP00000403802:R780W R - 1 2 FBXO10 37508298 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 3.144000 0.50616 2.496000 0.84212 0.563000 0.77884 CGG FBXO10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052472.3 - ENST00000432825.2 Missense_Mutation SNP PCPG-TCGA-TT-A6YN-Normal-SM-5EMMW SDK1 221935 broad.mit.edu 37 7 4009006 4009006 + Missense_Mutation SNP C C T TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr7:4009006C>T ENST00000389531.3 + 11.0 1664 c.1664C>T c.(1663-1665)gCg>gTg p.A555V SDK1_ENST00000404826.2_Missense_Mutation_p.A555V Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 555.0 Ig-like C2-type 5. cell adhesion (GO:0007155) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) 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) 153.0 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) ACCTGCTATGCGGCCAACACA 0.577 0 116.0 119.0 118.0 7 4009006.0 2203.0 4300.0 6503.0 SO:0001583 missense AK074077 CCDS34590.1 7p22.3 2013-02-11 2011-12-09 ENSG00000146555 ENSG00000146555 221935.0 221935.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 19307.0 protein-coding gene gene with protein product 607216 """sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)""" 12230981, 17307840, 15213259 Standard NM_152744 NM_001079653 Approved FLJ31425 uc003smx.3 Q7Z5N4 OTTHUMG00000151733 ENST00000389531.3:c.1664C>T 7.__UNKNOWN__:g.4009006C>T ENSP00000374182:p.Ala555Val Q8TEN9|Q8TEP5|Q96N44 __UNKNOWN__ . . . . . . . . . . C 25.2 4.616418 0.87359 . . ENSG00000146555 ENST00000404826;ENST00000389531 T;T 0.72505 -0.66;-0.66 5.63 5.63 0.86233 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.64402 D 0.000002 D 0.84969 0.5590 M 0.78456 2.415 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.83076 -0.0140 10 0.39692 T 0.17 . 20.0572 0.97657 0.0:1.0:0.0:0.0 . 555 Q7Z5N4 SDK1_HUMAN V 555 ENSP00000385899:A555V;ENSP00000374182:A555V ENSP00000374182:A555V A + 2 0 SDK1 3975532 1.000000 0.71417 0.240000 0.24138 0.728000 0.41692 7.410000 0.80065 2.826000 0.97356 0.655000 0.94253 GCG SDK1-004 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000323705.2 + ENST00000389531.3 Missense_Mutation SNP PCPG-TCGA-TT-A6YN-Normal-SM-5EMMW TUBE1 51175 broad.mit.edu 37 6 112397154 112397154 + Silent SNP G G A TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr6:112397154G>A ENST00000368662.5 - 8.0 876 c.798C>T c.(796-798)ctC>ctT p.L266L TUBE1_ENST00000604814.1_5'UTR NM_016262.4 NP_057346.1 Q9UJT0 TBE_HUMAN tubulin, epsilon 1 266.0 centrosome cycle (GO:0007098)|protein polymerization (GO:0051258) microtubule (GO:0005874)|pericentriolar material (GO:0000242) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200) cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 12.0 all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1) all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) Vinblastine(DB00570) TTAGGTTGAGGAGCAAATTTG 0.353 0 114.0 120.0 118.0 6 112397154.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF201334 CCDS5100.1 6q21 2005-11-03 ENSG00000074935 ENSG00000074935 51175.0 51175.0 """Tubulins""" 20775.0 protein-coding gene gene with protein product 607345 10620804 Standard NM_016262 NM_016262 Approved dJ142L7.2, FLJ22589, TUBE uc003pvq.3 Q9UJT0 OTTHUMG00000015382 ENST00000368662.5:c.798C>T 6.__UNKNOWN__:g.112397154G>A Q5H8W8|Q8NEG3 __UNKNOWN__ CCDS5100.1 TUBE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041867.1 - ENST00000368662.5 Silent SNP PCPG-TCGA-TT-A6YN-Normal-SM-5EMMW CHD6 0 broad.mit.edu 37 20 40076589 40076589 + Silent SNP G G A TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr20:40076589G>A ENST00000373233.3 - 24.0 3883 c.3706C>T c.(3706-3708)Ctg>Ttg p.L1236L CHD6_ENST00000309279.7_Silent_p.L719L NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1236.0 ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351) nucleoplasm (GO:0005654) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221) 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) 129.0 Myeloproliferative disorder(115;0.00425) AGGTAGTACAGCATCCGGACT 0.403 0 128.0 122.0 124.0 20 40076589.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF525085 CCDS13317.1 20q12 2003-03-07 ENSG00000124177 ENSG00000124177 84181.0 19057.0 protein-coding gene gene with protein product 11889561 Standard NM_032221 Approved KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB uc002xka.1 Q8TD26 OTTHUMG00000032487 ENST00000373233.3:c.3706C>T 20.__UNKNOWN__:g.40076589G>A Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1 __UNKNOWN__ CCDS13317.1 CHD6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079270.1 - ENST00000373233.3 Silent SNP PCPG-TCGA-TT-A6YN-Normal-SM-5EMMW TPR 7175 broad.mit.edu 37 1 186315295 186315295 + Missense_Mutation SNP C C T TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr1:186315295C>T ENST00000367478.4 - 23.0 3364 c.3068G>A c.(3067-3069)aGa>aAa p.R1023K NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1023.0 carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631) 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) 123.0 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) TATGGCTCTTCTTTTATCATC 0.323 T NTRK1 papillary thyroid Dom yes 1 1q25 7175.0 translocated promoter region E 0 245.0 209.0 220.0 1 186315295.0 1843.0 4097.0 5940.0 SO:0001583 missense U69668 CCDS41446.1 1q25 2012-03-13 2012-03-13 ENSG00000047410 ENSG00000047410 7175.0 7175.0 12017.0 protein-coding gene gene with protein product 189940 """translocated promoter region (to activated MET oncogene)""" 1611909, 15229283 Standard NM_003292 NM_003292 Approved uc001grv.3 P12270 OTTHUMG00000035580 ENST00000367478.4:c.3068G>A 1.__UNKNOWN__:g.186315295C>T ENSP00000356448:p.Arg1023Lys Q15655|Q5SWY0|Q99968 __UNKNOWN__ CCDS41446.1 . . . . . . . . . . C 12.30 1.896811 0.33535 . . ENSG00000047410 ENST00000367478 T 0.22134 1.97 5.66 5.66 0.87406 Prefoldin (1); 0.155529 0.53938 D 0.000044 T 0.10078 0.0247 N 0.12182 0.205 0.26018 N 0.981908 B 0.19583 0.037 B 0.09377 0.004 T 0.24941 -1.0146 10 0.02654 T 1 . 12.0987 0.53769 0.0:0.9221:0.0:0.0779 . 1023 P12270 TPR_HUMAN K 1023 ENSP00000356448:R1023K ENSP00000356448:R1023K R - 2 0 TPR 184581918 1.000000 0.71417 1.000000 0.80357 0.954000 0.61252 2.479000 0.45197 2.645000 0.89757 0.650000 0.86243 AGA TPR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086353.2 - ENST00000367478.4 Missense_Mutation SNP PCPG-TCGA-TT-A6YN-Normal-SM-5EMMW ITIH1 3697 broad.mit.edu 37 3 52819188 52819188 + Silent SNP C C T TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr3:52819188C>T ENST00000273283.2 + 12.0 1560 c.1536C>T c.(1534-1536)gcC>gcT p.A512A ITIH1_ENST00000542827.1_Silent_p.A512A|ITIH1_ENST00000540715.1_Silent_p.A370A|ITIH1_ENST00000537050.1_Silent_p.A224A NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 512.0 Hyaluronan-binding. hyaluronan metabolic process (GO:0030212) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52.0 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TTGTGGTGGCCGGGCGCATTG 0.577 0 C ,,, 0,4406 0,0,2203 134.0 124.0 127.0 1110,672,672,1536 -4.5 1.0 3 127.0 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous ITIH1 NM_001166434.1,NM_001166435.1,NM_001166436.1,NM_002215.2 ,,, 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 ,,, 370/770,224/624,224/624,512/912 52819188.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS2864.1, CCDS54595.1 3p21.1 2011-10-26 2011-10-26 ENSG00000055957 ENSG00000055957 3697.0 3697.0 6166.0 protein-coding gene gene with protein product 147270 """inter-alpha (globulin) inhibitor, H1 polypeptide""" 1385302, 10100603 Standard NM_002215 NM_002215 Approved H1P, IATIH, ITIH uc003dfs.3 P19827 OTTHUMG00000150312 ENST00000273283.2:c.1536C>T 3.__UNKNOWN__:g.52819188C>T A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1 __UNKNOWN__ CCDS2864.1 ITIH1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317522.1 + ENST00000273283.2 Silent SNP PCPG-TCGA-TT-A6YN-Normal-SM-5EMMW PLG 5340 broad.mit.edu 37 6 161137789 161137789 + Missense_Mutation SNP C C T TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr6:161137789C>T ENST00000308192.9 + 7.0 844 c.781C>T c.(781-783)Cgc>Tgc p.R261C NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 261.0 Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}. R -> H (in dbSNP:rs4252187). {ECO:0000269|Ref.4}. blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771) blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093) apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59.0 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TGACATCCCCCGCTGCAGTGA 0.522 0 62.0 59.0 60.0 6 161137789.0 2203.0 4300.0 6503.0 SO:0001583 missense M74220 CCDS5279.1, CCDS55074.1 6q26 2012-10-02 ENSG00000122194 ENSG00000122194 5340.0 5340.0 9071.0 protein-coding gene gene with protein product 173350 Standard NM_000301 NM_000301 Approved uc003qtm.4 P00747 OTTHUMG00000015957 ENST00000308192.9:c.781C>T 6.__UNKNOWN__:g.161137789C>T ENSP00000308938:p.Arg261Cys Q15146|Q5TEH4|Q6PA00 __UNKNOWN__ CCDS5279.1 . . . . . . . . . . C 18.85 3.711072 0.68730 . . ENSG00000122194 ENST00000308192 T 0.68181 -0.31 5.2 4.31 0.51392 Kringle (4);Kringle-like fold (1); 0.000000 0.36234 U 0.002703 T 0.81721 0.4882 M 0.93150 3.385 0.80722 D 1 D 0.89917 1.0 D 0.66716 0.946 D 0.87031 0.2135 10 0.87932 D 0 . 13.9385 0.64041 0.1673:0.8327:0.0:0.0 . 261 P00747 PLMN_HUMAN C 261 ENSP00000308938:R261C ENSP00000308938:R261C R + 1 0 PLG 161057779 0.997000 0.39634 1.000000 0.80357 0.463000 0.32649 3.589000 0.53972 1.257000 0.44085 0.563000 0.77884 CGC PLG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042959.2 + ENST00000308192.9 Missense_Mutation SNP PCPG-TCGA-TT-A6YN-Normal-SM-5EMMW TBL1XR1 79718 broad.mit.edu 37 3 176750883 176750883 + Missense_Mutation SNP C C T rs112987834 TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr3:176750883C>T ENST00000430069.1 - 14.0 1551 c.1292G>A c.(1291-1293)cGa>cAa p.R431Q TBL1XR1_ENST00000457928.2_Missense_Mutation_p.R431Q Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 431.0 canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053) beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212) 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) 31.0 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) GCATATCCCTCGGTCTACATC 0.423 0 118.0 114.0 115.0 3 176750883.0 1918.0 4155.0 6073.0 SO:0001583 missense AK022956 CCDS46961.1 3q26.33 2013-01-10 2008-01-17 ENSG00000177565 ENSG00000177565 79718.0 79718.0 """WD repeat domain containing""" 29529.0 protein-coding gene gene with protein product 608628 """transducin (beta)-like 1X-linked receptor 1""" 11063877, 11931768 Standard NM_024665 NM_024665 Approved IRA1, FLJ12894, TBLR1, C21, DC42 uc003fix.4 Q9BZK7 OTTHUMG00000157140 ENST00000430069.1:c.1292G>A 3.__UNKNOWN__:g.176750883C>T ENSP00000405574:p.Arg431Gln D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1 __UNKNOWN__ CCDS46961.1 . . . . . . . . . . C 16.28 3.078347 0.55753 . . ENSG00000177565 ENST00000430069;ENST00000457928;ENST00000536758 T;T 0.81078 -1.45;-1.45 5.87 5.87 0.94306 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.072293 0.53938 D 0.000043 T 0.66499 0.2795 N 0.11560 0.145 0.80722 D 1 B 0.25955 0.138 B 0.16722 0.016 T 0.61768 -0.6995 10 0.22706 T 0.39 -4.6556 19.1839 0.93635 0.0:1.0:0.0:0.0 . 431 Q9BZK7 TBL1R_HUMAN Q 431;431;293 ENSP00000405574:R431Q;ENSP00000413251:R431Q ENSP00000405574:R431Q R - 2 0 TBL1XR1 178233577 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 7.487000 0.81328 2.780000 0.95670 0.655000 0.94253 CGA TBL1XR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347587.3 - ENST00000430069.1 Missense_Mutation SNP PCPG-TCGA-TT-A6YN-Normal-SM-5EMMW LIPT1 51601 broad.mit.edu 37 2 99778810 99778810 + Silent SNP G G A TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr2:99778810G>A ENST00000393473.2 + 3.0 614 c.390G>A c.(388-390)ctG>ctA p.L130L LIPT1_ENST00000393477.3_Silent_p.L130L|LIPT1_ENST00000393471.2_Silent_p.L130L|LIPT1_ENST00000393474.3_Silent_p.L130L|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000340066.1_Silent_p.L130L NM_001204830.1|NM_015929.3 NP_001191759.1|NP_057013.1 Q9Y234 LIPT_HUMAN lipoyltransferase 1 130.0 BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}. cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249) mitochondrion (GO:0005739) transferase activity, transferring acyl groups (GO:0016746) large_intestine(6)|lung(1) 7.0 Lipoic Acid(DB00166) TGGAAAATCTGAAATTAATTG 0.383 GBM(84;665 1268 21657 25485 30647) 0 53.0 53.0 53.0 2 99778810.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB017566 CCDS2039.1 2q11.2 2010-11-25 ENSG00000144182 ENSG00000144182 51601.0 51601.0 2.3.1.181 29569.0 protein-coding gene gene with protein product 610284 10103005 Standard NM_015929 NM_145197 Approved MGC12290, MGC13378 uc002szq.4 Q9Y234 OTTHUMG00000130640 ENST00000393473.2:c.390G>A 2.__UNKNOWN__:g.99778810G>A Q4ZFZ1 __UNKNOWN__ CCDS2039.1 LIPT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253128.1 + ENST00000393473.2 Silent SNP PCPG-TCGA-TT-A6YN-Normal-SM-5EMMW COL11A1 1301 ucsc.edu 37 1 103427759 103427759 + Silent SNP T T C TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr1:103427759T>C ENST00000370096.3 - 40.0 3399 c.3087A>G c.(3085-3087)ccA>ccG p.P1029P COL11A1_ENST00000512756.1_Silent_p.P913P|COL11A1_ENST00000353414.4_Silent_p.P990P|COL11A1_ENST00000358392.2_Silent_p.P1041P NM_001854.3 NP_001845.3 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1029.0 Triple-helical region. cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601) collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576) extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674) 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) 258.0 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) CTCTTTCCCCTGGGAAACCAC 0.378 0 85.0 89.0 87.0 1 103427759.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant J04177 CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1 1p21 2013-01-16 ENSG00000060718 ENSG00000060718 1301.0 1301.0 """Collagens""" 2186.0 protein-coding gene gene with protein product """collagen XI, alpha-1 polypeptide""" 120280 COLL6 3182841 Standard NM_080630 NM_080630 Approved STL2, CO11A1 uc001dul.3 P12107 OTTHUMG00000010872 ENST00000370096.3:c.3087A>G 1.__UNKNOWN__:g.103427759T>C B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6 __UNKNOWN__ CCDS778.1 COL11A1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000029997.1 - ENST00000370096.3 Silent SNP PCPG-TCGA-TT-A6YN-Normal-SM-5EMMW TRPM1 4308 ucsc.edu 37 15 31342785 31342785 + Missense_Mutation SNP G G T TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr15:31342785G>T ENST00000256552.6 - 12.0 1411 c.1264C>A c.(1264-1266)Ccc>Acc p.P422T TRPM1_ENST00000542188.1_Splice_Site_p.P439T|TRPM1_ENST00000397795.2_Splice_Site_p.P400T NM_001252024.1 NP_001238953.1 transient receptor potential cation channel, subfamily M, member 1 NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99.0 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CTTCCCAGGGGCTGCAGTCCA 0.572 0 65.0 65.0 65.0 15 31342785.0 2007.0 4167.0 6174.0 SO:0001630 splice_region_variant AF071787 CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1 15q13.3 2014-01-28 2002-01-18 ENSG00000134160 ENSG00000134160 4308.0 4308.0 """Voltage-gated ion channels / Transient receptor potential cation channels""" 7146.0 protein-coding gene gene with protein product 603576 """melastatin 1""" MLSN1 9806836, 9537257, 16382100 Standard NM_002420 NM_001252020 Approved LTRPC1, CSNB1C uc021sia.1 Q7Z4N2 OTTHUMG00000129267 ENST00000256552.6:c.1264-1C>A 15.__UNKNOWN__:g.31342785G>T __UNKNOWN__ CCDS58346.1 . . . . . . . . . . G 16.42 3.118787 0.56505 . . ENSG00000134160 ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793 T;T;T 0.73897 -0.79;-0.79;-0.79 4.97 4.97 0.65823 . 0.243755 0.41294 D 0.000902 T 0.67487 0.2898 L 0.38953 1.18 0.58432 D 0.999996 P;P 0.49090 0.919;0.893 B;B 0.42851 0.399;0.4 T 0.69172 -0.5215 10 0.38643 T 0.18 -16.2896 15.7139 0.77652 0.0:0.0:1.0:0.0 . 394;400 Q7Z4N2-3;Q7Z4N2 .;TRPM1_HUMAN T 400;439;422;400 ENSP00000380897:P400T;ENSP00000437849:P439T;ENSP00000256552:P422T ENSP00000256552:P422T P - 1 0 TRPM1 29130077 1.000000 0.71417 1.000000 0.80357 0.510000 0.34073 6.827000 0.75303 2.298000 0.77334 0.313000 0.20887 CCC TRPM1-004 PUTATIVE basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000417166.2 Missense_Mutation - ENST00000256552.6 Splice_Site SNP PCPG-TCGA-TT-A6YN-Normal-SM-5EMMW ACE 1636 broad.mit.edu 37 17 61560491 61560491 + Missense_Mutation SNP C C T TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr17:61560491C>T ENST00000290866.4 + 9.0 1468 c.1444C>T c.(1444-1446)Cgt>Tgt p.R482C ACE_ENST00000584529.1_Intron|ACE_ENST00000538928.1_Intron|ACE_ENST00000428043.1_Missense_Mutation_p.R482C NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 482.0 Peptidase M2 1. angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312) endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270) 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) 51.0 Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CTTTAGTGGGCGTACCCCCCC 0.552 C 2.0 0.0009 2184.0 0.0017 1.0 , , 0.0003 0.0013 0.0009 1.0 EXOME 0.0057 SNP 0 C CYS/ARG 0,4406 0,0,2203 129.0 139.0 135.0 1444 2.8 0.1 17 135.0 3,8597 3.0+/-9.4 0,3,4297 no missense ACE NM_000789.3 180 0,3,6500 TT,TC,CC 0.0349,0.0,0.0231 probably-damaging 482/1307 61560491.0 3,13003 2203.0 4300.0 6503.0 SO:0001583 missense J04144 CCDS11637.1, CCDS45755.1, CCDS54155.1 17q23.3 2013-06-12 2013-06-12 ENSG00000159640 ENSG00000159640 1636.0 1636.0 3.4.15.1 """CD molecules""" 2707.0 protein-coding gene gene with protein product """peptidyl-dipeptidase A""" 106180 """angiotensin I converting enzyme (peptidyl-dipeptidase A) 1""" DCP1 2554286, 10319862 Standard NM_001178057 Approved ACE1, CD143 uc002jau.2 P12821 OTTHUMG00000154927 ENST00000290866.4:c.1444C>T 17.__UNKNOWN__:g.61560491C>T ENSP00000290866:p.Arg482Cys B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4 __UNKNOWN__ CCDS11637.1 2 9.157509157509158E-4 0 0.0 0 0.0 1 0.0017482517482517483 1 0.0013192612137203166 C 5.862 0.343229 0.11069 0.0 3.49E-4 ENSG00000159640 ENST00000290866;ENST00000428043 T;T 0.34472 1.36;1.36 4.87 2.84 0.33178 . 0.317473 0.31963 N 0.006785 T 0.48295 0.1492 M 0.83953 2.67 0.09310 N 0.999999 B;D 0.76494 0.056;0.999 B;P 0.50754 0.006;0.649 T 0.46721 -0.9171 10 0.66056 D 0.02 -2.4434 9.5241 0.39154 0.1423:0.7835:0.0:0.0742 rs61758670 482;482 P12821-2;P12821 .;ACE_HUMAN C 482 ENSP00000290866:R482C;ENSP00000397593:R482C ENSP00000290866:R482C R + 1 0 ACE 58914223 0.000000 0.05858 0.147000 0.22382 0.008000 0.06430 0.958000 0.29227 0.628000 0.30357 0.561000 0.74099 CGT ACE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337675.2 + ENST00000290866.4 Missense_Mutation SNP PCPG-TCGA-TT-A6YO-Normal-SM-5EMNJ KLHL23 151230 broad.mit.edu 37 2 170591547 170591547 + Missense_Mutation SNP A A C TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr2:170591547A>C ENST00000392647.2 + 2.0 267 c.23A>C c.(22-24)gAt>gCt p.D8A KLHL23_ENST00000272797.4_Missense_Mutation_p.D8A|KLHL23_ENST00000602521.1_Intron NM_144711.5 NP_653312.2 Q8NBE8 KLH23_HUMAN kelch-like family member 23 8.0 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 16.0 GGACAAGAAGATTATATTTAT 0.313 0 80.0 88.0 85.0 2 170591547.0 2202.0 4300.0 6502.0 SO:0001583 missense BC010437 CCDS2236.1 2q31.1 2013-01-30 2013-01-30 ENSG00000213160 ENSG00000213160 151230.0 151230.0 """Kelch-like"", ""BTB/POZ domain containing""" 27506.0 protein-coding gene gene with protein product """kelch-like 23 (Drosophila)""" Standard NM_144711 NM_144711 Approved MGC2610, FLJ37812, MGC22679 uc002ufi.2 Q8NBE8 OTTHUMG00000132213 ENST00000392647.2:c.23A>C 2.__UNKNOWN__:g.170591547A>C ENSP00000376419:p.Asp8Ala Q8N9B9|Q96FT8 __UNKNOWN__ CCDS2236.1 . . . . . . . . . . A 6.531 0.466171 0.12402 . . ENSG00000213160 ENST00000272797;ENST00000392647 T;T 0.69175 -0.38;-0.38 5.82 4.67 0.58626 BTB/POZ fold (1); 0.342788 0.31884 N 0.006920 T 0.59514 0.2199 L 0.46157 1.445 0.33596 D 0.601769 B 0.22003 0.063 B 0.22386 0.039 T 0.64723 -0.6340 9 0.45353 T 0.12 . 11.8015 0.52130 0.9316:0.0:0.0683:0.0 . 8 Q8NBE8 KLH23_HUMAN A 8 ENSP00000272797:D8A;ENSP00000376419:D8A ENSP00000272797:D8A D + 2 0 KLHL23 170299793 1.000000 0.71417 1.000000 0.80357 0.394000 0.30568 3.561000 0.53770 1.029000 0.39812 -0.256000 0.11100 GAT KLHL23-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255271.2 + ENST00000392647.2 Missense_Mutation SNP PCPG-TCGA-TT-A6YO-Normal-SM-5EMNJ GABRB2 0 broad.mit.edu 37 5 160763709 160763709 + Silent SNP C C T rs138163747 byFrequency TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr5:160763709C>T ENST00000393959.1 - 6.0 608 c.609G>A c.(607-609)acG>acA p.T203T GABRB2_ENST00000517547.1_Silent_p.T43T|GABRB2_ENST00000520240.1_Silent_p.T203T|GABRB2_ENST00000353437.6_Silent_p.T203T|GABRB2_ENST00000517901.1_Silent_p.T140T|GABRB2_ENST00000274547.2_Silent_p.T203T P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 203.0 cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237) 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) 26.0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897) GTTCAATTTTCGTTACTCCTG 0.378 0 C , 3,4403 6.2+/-15.9 0,3,2200 134.0 132.0 133.0 609,609 -4.0 1.0 5 dbSNP_134 133.0 0,8600 0,0,4300 no coding-synonymous,coding-synonymous GABRB2 NM_000813.2,NM_021911.2 , 0,3,6500 TT,TC,CC 0.0,0.0681,0.0231 , 203/475,203/513 160763709.0 3,13003 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS4354.1, CCDS4355.1 5q34 2012-06-22 ENSG00000145864 ENSG00000145864 2561.0 """GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors""" 4082.0 protein-coding gene gene with protein product """GABA(A) receptor, beta 2""" 600232 7851879 Standard NM_000813 Approved uc003lys.1 P47870 OTTHUMG00000130349 ENST00000393959.1:c.609G>A 5.__UNKNOWN__:g.160763709C>T A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2 __UNKNOWN__ CCDS4355.1 GABRB2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252704.1 - ENST00000393959.1 Silent SNP PCPG-TCGA-TT-A6YO-Normal-SM-5EMNJ ADAMTSL4 54507 broad.mit.edu 37 1 150526285 150526285 + Missense_Mutation SNP G G T TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr1:150526285G>T ENST00000369038.2 + 4.0 1019 c.818G>T c.(817-819)gGc>gTc p.G273V RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.G273V|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.G273V|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.G273V Q6UY14 ATL4_HUMAN ADAMTS-like 4 273.0 apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065) interstitial matrix (GO:0005614) metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020) breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32.0 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) GGAGAAGGTGGCTTCTTCCGT 0.657 0 51.0 49.0 50.0 1 150526285.0 2203.0 4300.0 6503.0 SO:0001583 missense BC027478 CCDS955.1, CCDS30852.1, CCDS72908.1 1q21.2 2008-02-05 2005-12-01 2005-12-01 ENSG00000143382 ENSG00000143382 54507.0 54507.0 19706.0 protein-coding gene gene with protein product 610113 """thrombospondin repeat containing 1""" TSRC1 12706885 Standard NM_019032 NM_019032 Approved DKFZP434K1772 uc001eux.3 Q6UY14 OTTHUMG00000034863 ENST00000369038.2:c.818G>T 1.__UNKNOWN__:g.150526285G>T ENSP00000358034:p.Gly273Val B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6 __UNKNOWN__ CCDS955.1 . . . . . . . . . . G 7.052 0.564618 0.13498 . . ENSG00000143382 ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038 T;T;T;T 0.61510 0.19;0.1;0.38;0.1 4.52 -0.229 0.13094 . . . . . T 0.12135 0.0295 N 0.08118 0 0.09310 N 1 B;B;B;B 0.06786 0.0;0.0;0.0;0.001 B;B;B;B 0.06405 0.0;0.001;0.0;0.002 T 0.19321 -1.0309 9 0.36615 T 0.2 . 2.3551 0.04293 0.1072:0.1496:0.2407:0.5025 . 273;273;273;273 B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2 .;.;ATL4_HUMAN;. V 273 ENSP00000358037:G273V;ENSP00000271643:G273V;ENSP00000358035:G273V;ENSP00000358034:G273V ENSP00000271643:G273V G + 2 0 ADAMTSL4 148792909 0.001000 0.12720 0.002000 0.10522 0.077000 0.17291 0.161000 0.16481 0.301000 0.22738 0.484000 0.47621 GGC ADAMTSL4-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000084395.4 + ENST00000369038.2 Missense_Mutation SNP PCPG-TCGA-TT-A6YO-Normal-SM-5EMNJ AMIGO3 386724 broad.mit.edu 37 3 49756120 49756120 + Missense_Mutation SNP C C A TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr3:49756120C>A ENST00000320431.7 - 1.0 1008 c.779G>T c.(778-780)cGc>cTc p.R260L AMIGO3_ENST00000535833.1_Missense_Mutation_p.R260L|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Intron NM_198722.2 NP_942015.1 adhesion molecule with Ig-like domain 3 endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5.0 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GAAGCGCACGCGGGACGCGGG 0.662 0 25.0 28.0 27.0 3 49756120.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS33759.1 3p21 2013-01-11 ENSG00000176020 ENSG00000176020 386724.0 386724.0 """Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 24075.0 protein-coding gene gene with protein product """amphoterin-induced gene and open reading frame 3""" 615691 12629050, 12975309 Standard NM_198722 NM_198722 Approved uc003cxj.3 Q86WK7 OTTHUMG00000158152 ENST00000320431.7:c.779G>T 3.__UNKNOWN__:g.49756120C>A ENSP00000323096:p.Arg260Leu __UNKNOWN__ CCDS33759.1 . . . . . . . . . . C 8.149 0.786874 0.16189 . . ENSG00000176020 ENST00000320431;ENST00000535833 T;T 0.60548 0.18;0.18 5.4 4.52 0.55395 . 0.451624 0.23105 N 0.051878 T 0.44603 0.1301 L 0.45137 1.4 0.27144 N 0.961578 B 0.27823 0.19 B 0.20577 0.03 T 0.35226 -0.9797 10 0.35671 T 0.21 -15.9821 7.4196 0.27065 0.0:0.7462:0.0:0.2538 . 260 Q86WK7 AMGO3_HUMAN L 260 ENSP00000323096:R260L;ENSP00000439268:R260L ENSP00000323096:R260L R - 2 0 AMIGO3 49731124 0.272000 0.24172 0.168000 0.22838 0.311000 0.27955 1.030000 0.30153 1.276000 0.44395 0.462000 0.41574 CGC AMIGO3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350298.1 - ENST00000320431.7 Missense_Mutation SNP PCPG-TCGA-TT-A6YO-Normal-SM-5EMNJ ARL15 54622 broad.mit.edu 37 5 53409151 53409151 + Missense_Mutation SNP C C A TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr5:53409151C>A ENST00000504924.1 - 4.0 436 c.343G>T c.(343-345)Gat>Tat p.D115Y ARL15_ENST00000502271.1_5'UTR|ARL15_ENST00000510591.2_5'UTR|ARL15_ENST00000507646.2_Missense_Mutation_p.D115Y NM_019087.2 NP_061960.1 Q9NXU5 ARL15_HUMAN ADP-ribosylation factor-like 15 115.0 small GTPase mediated signal transduction (GO:0007264) extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622) GTP binding (GO:0005525) endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6.0 Lung NSC(810;0.000779) GCTTCTAAATCATCCTCTGAA 0.438 0 86.0 84.0 85.0 5 53409151.0 1887.0 4111.0 5998.0 SO:0001583 missense BC026093 CCDS54850.1 5p15.2 2014-05-09 2005-11-03 2005-11-03 ENSG00000185305 54622.0 54622.0 """ADP-ribosylation factors-like"", ""ADP-ribosylation factors""" 25945.0 protein-coding gene gene with protein product """ADP-ribosylation factor related protein 2""" ARFRP2 12477932 Standard NM_019087 NM_019087 Approved FLJ20051 uc003jpg.1 Q9NXU5 ENST00000504924.1:c.343G>T 5.__UNKNOWN__:g.53409151C>A ENSP00000433427:p.Asp115Tyr Q6IAD0 __UNKNOWN__ CCDS54850.1 . . . . . . . . . . C 29.5 5.013089 0.93346 . . ENSG00000185305 ENST00000504924;ENST00000507646 T;T 0.62941 -0.01;-0.01 5.9 5.9 0.94986 . 0.087764 0.85682 D 0.000000 T 0.73032 0.3535 L 0.46157 1.445 0.80722 D 1 D 0.53885 0.963 P 0.58331 0.837 T 0.73726 -0.3892 10 0.87932 D 0 -14.3583 20.2723 0.98479 0.0:1.0:0.0:0.0 . 115 Q9NXU5 ARL15_HUMAN Y 115 ENSP00000433427:D115Y;ENSP00000432680:D115Y ENSP00000433427:D115Y D - 1 0 ARL15 53444908 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.818000 0.86416 2.793000 0.96121 0.563000 0.77884 GAT ARL15-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000368432.2 - ENST00000504924.1 Missense_Mutation SNP PCPG-TCGA-TT-A6YO-Normal-SM-5EMNJ MECP2 4204 broad.mit.edu 37 X 153363122 153363122 + Translation_Start_Site DEL T T - TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chrX:153363122delT ENST00000303391.6 - 0.0 90 MECP2_ENST00000407218.1_De_novo_Start_OutOfFrame|MECP2_ENST00000453960.2_Start_Codon_Del NM_004992.3 NP_004983.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542) cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714) breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23.0 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) gcggcggcCATTTTCCGGACG 0.766 0 4.0 5.0 5.0 X 153363122.0 997.0 2526.0 3523.0 AF158180 CCDS14741.1, CCDS48193.1 Xq28 2014-09-17 2014-06-18 ENSG00000169057 ENSG00000169057 4204.0 4204.0 6990.0 protein-coding gene gene with protein product 300005 """mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)""" RTT, MRX16, MRX79 1606614, 10508514 Standard NM_004992 NM_004992 Approved uc004fjw.2 P51608 OTTHUMG00000024229 ENST00000303391.6:c.-160A>- X.__UNKNOWN__:g.153363122delT O15233|Q6QHH9|Q7Z384 __UNKNOWN__ CCDS14741.1 MECP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000061144.1 - ENST00000303391.6 De_novo_Start_OutOfFrame DEL PCPG-TCGA-TT-A6YO-Normal-SM-5EMNJ EFCAB12 90288 ucsc.edu 37 3 129130071 129130071 + Missense_Mutation SNP G G A rs73865436 by1000genomes TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr3:129130071G>A ENST00000505956.1 - 5.0 1127 c.965C>T c.(964-966)aCg>aTg p.T322M EFCAB12_ENST00000326085.3_Missense_Mutation_p.T322M NM_207307.1 NP_997190.1 Q6NXP0 EFC12_HUMAN EF-hand calcium binding domain 12 322.0 calcium ion binding (GO:0005509) CATGGGCCGCGTCTCCATCTG 0.632 G 38.0 0.02 0.07 0.01 2184.0 0.9995 , , 0.0003 0.0176 0.988 LOWCOV 0.0003 SNP 0 G MET/THR 187,4113 6,175,1969 38.0 43.0 41.0 965 2.3 0.5 3 dbSNP_130 41.0 2,8462 0,2,4230 yes missense C3orf25 NM_207307.1 81 6,177,6199 AA,AG,GG 0.0236,4.3488,1.4807 benign 322/573 129130071.0 189,12575 2150.0 4232.0 6382.0 SO:0001583 missense AK096099 CCDS54638.1 3q21.3 2013-01-10 2012-07-20 2012-07-20 ENSG00000172771 ENSG00000172771 90288.0 90288.0 """EF-hand domain containing""" 28061.0 protein-coding gene gene with protein product """chromosome 3 open reading frame 25""" C3orf25 Standard NM_207307 NM_207307 Approved uc003emg.3 Q6NXP0 OTTHUMG00000159464 ENST00000505956.1:c.965C>T 3.__UNKNOWN__:g.129130071G>A ENSP00000420854:p.Thr322Met Q69YX4 __UNKNOWN__ CCDS54638.1 38 0.0173992673992674 35 0.07113821138211382 3 0.008287292817679558 0 0.0 0 0.0 G 10.94 1.494100 0.26774 0.043488 2.36E-4 ENSG00000172771 ENST00000505956;ENST00000326085 T;T 0.03124 4.04;4.04 4.24 2.27 0.28462 . 0.378699 0.18638 N 0.135396 T 0.00241 0.0007 N 0.08118 0 0.09310 N 1 B 0.17667 0.023 B 0.09377 0.004 T 0.47548 -0.9109 10 0.72032 D 0.01 -6.349 10.8285 0.46647 0.0:0.5347:0.4653:0.0 . 322 Q6NXP0 CC025_HUMAN M 322 ENSP00000420854:T322M;ENSP00000324241:T322M ENSP00000324241:T322M T - 2 0 C3orf25 130612761 0.015000 0.18098 0.480000 0.27341 0.600000 0.36913 0.811000 0.27198 0.945000 0.37605 0.462000 0.41574 ACG EFCAB12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355530.1 - ENST00000505956.1 Missense_Mutation SNP PCPG-TCGA-TT-A6YO-Normal-SM-5EMNJ EFS 10278 ucsc.edu 37 14 23826828 23826828 + Silent SNP T T A TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr14:23826828T>A ENST00000216733.3 - 6.0 1900 c.1293A>T c.(1291-1293)ggA>ggT p.G431G EFS_ENST00000351354.3_Silent_p.G338G|EFS_ENST00000429593.2_Silent_p.G262G NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 431.0 cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556) cytoplasm (GO:0005737) protein domain specific binding (GO:0019904) endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16.0 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GCTGCAGATCTCCGGTGGACA 0.587 0 32.0 37.0 35.0 14 23826828.0 2202.0 4299.0 6501.0 SO:0001819 synonymous_variant AB001466 CCDS9595.1, CCDS9596.1, CCDS61404.1 14q11.2-q12 2011-04-13 ENSG00000100842 ENSG00000100842 10278.0 """Cas scaffolding proteins""" 16898.0 protein-coding gene gene with protein product """Cas scaffolding protein family member 3""" 609906 9349509 Standard NM_005864 Approved EFS2, EFS1, HEFS, SIN, CASS3 uc001wjo.4 O43281 OTTHUMG00000028741 ENST00000216733.3:c.1293A>T 14.__UNKNOWN__:g.23826828T>A B2RAJ7|B4DJ56|E9PGU2|O43282 __UNKNOWN__ CCDS9595.1 EFS-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000071770.2 - ENST00000216733.3 Silent SNP PCPG-TCGA-TT-A6YO-Normal-SM-5EMNJ SLC43A1 8501 ucsc.edu 37 11 57263558 57263558 + Missense_Mutation SNP C C T TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr11:57263558C>T ENST00000278426.3 - 7.0 993 c.638G>A c.(637-639)tGc>tAc p.C213Y SLC43A1_ENST00000533515.1_5'UTR|SLC43A1_ENST00000528450.1_Missense_Mutation_p.C213Y NM_003627.5 NP_003618.1 solute carrier family 43 (amino acid system L transporter), member 1 breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19.0 GTTGAGGGTGCAGTTCAGAAA 0.597 0 83.0 66.0 72.0 11 57263558.0 2201.0 4296.0 6497.0 SO:0001583 missense AF045584 CCDS7958.1 11q12.1 2013-07-17 2013-07-17 2003-09-12 ENSG00000149150 ENSG00000149150 8501.0 8501.0 """Solute carriers""" 9225.0 protein-coding gene gene with protein product 603733 """prostate cancer overexpressed gene 1""" POV1 9255310, 9722952 Standard NM_003627 NM_003627 Approved R00504, PB39 uc001nkk.3 O75387 OTTHUMG00000167030 ENST00000278426.3:c.638G>A 11.__UNKNOWN__:g.57263558C>T ENSP00000278426:p.Cys213Tyr __UNKNOWN__ CCDS7958.1 . . . . . . . . . . C 23.6 4.435301 0.83885 . . ENSG00000149150 ENST00000278426;ENST00000528450;ENST00000533066 T;T;T 0.58060 0.36;0.36;0.76 5.63 5.63 0.86233 Major facilitator superfamily domain, general substrate transporter (1); 0.000000 0.85682 D 0.000000 T 0.73001 0.3531 M 0.77313 2.365 0.58432 D 0.999999 D 0.89917 1.0 D 0.83275 0.996 T 0.68716 -0.5335 10 0.23891 T 0.37 -14.9818 18.457 0.90724 0.0:1.0:0.0:0.0 . 213 O75387 LAT3_HUMAN Y 213;213;182 ENSP00000278426:C213Y;ENSP00000435673:C213Y;ENSP00000435647:C182Y ENSP00000278426:C213Y C - 2 0 SLC43A1 57020134 1.000000 0.71417 1.000000 0.80357 0.737000 0.42083 7.152000 0.77419 2.637000 0.89404 0.561000 0.74099 TGC SLC43A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000392541.1 - ENST00000278426.3 Missense_Mutation SNP PCPG-TCGA-TT-A6YO-Normal-SM-5EMNJ OSBP 5007 broad.mit.edu 37 11 59382787 59382787 + Silent SNP C C A TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr11:59382787C>A ENST00000263847.1 - 1.0 830 c.351G>T c.(349-351)ctG>ctT p.L117L NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 117.0 PH. {ECO:0000255|PROSITE- ProRule:PRU00145}. lipid transport (GO:0006869) cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) oxysterol binding (GO:0008142) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26.0 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TGTAGTAGCTCAGGAGCCCGT 0.617 0 31.0 28.0 29.0 11 59382787.0 2201.0 4294.0 6495.0 SO:0001819 synonymous_variant AF185696 CCDS7974.1 11q12-q13 2013-01-10 ENSG00000110048 ENSG00000110048 5007.0 5007.0 """Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing""" 8503.0 protein-coding gene gene with protein product 167040 Standard NM_002556 Approved OSBP1 uc001noc.1 P22059 OTTHUMG00000167422 ENST00000263847.1:c.351G>T 11.__UNKNOWN__:g.59382787C>A Q6P524 __UNKNOWN__ CCDS7974.1 OSBP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394555.1 - ENST00000263847.1 Silent SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN ANO2 57101 broad.mit.edu 37 12 5963272 5963272 + Silent SNP G G A TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr12:5963272G>A ENST00000356134.5 - 4.0 629 c.558C>T c.(556-558)caC>caT p.H186H ANO2_ENST00000546188.1_Silent_p.H186H|ANO2_ENST00000327087.8_Silent_p.H186H NM_001278596.1 NP_001265525.1 Q9NQ90 ANO2_HUMAN anoctamin 2, calcium activated chloride channel 190.0 chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886) intracellular calcium activated chloride channel activity (GO:0005229) 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) 58.0 GCCACGGGGCGTGTATCCGGA 0.468 0 G 0,3804 0,0,1902 170.0 175.0 173.0 558 -0.3 1.0 12 173.0 2,8222 0,2,4110 no coding-synonymous ANO2 NM_020373.2 0,2,6012 AA,AG,GG 0.0243,0.0,0.0166 186/999 5963272.0 2,12026 1902.0 4112.0 6014.0 SO:0001819 synonymous_variant AJ272204 CCDS44807.1, CCDS44807.2 12p13.3 2014-04-09 2014-04-09 2008-08-28 ENSG00000047617 57101.0 57101.0 """Ion channels / Chloride channels : Calcium activated : Anoctamins""" 1183.0 protein-coding gene gene with protein product """transmembrane protein 16B (eight membrane-spanning domains)""" 610109 """chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2""" C12orf3, TMEM16B 12739008, 15067359, 24692353 Standard NM_020373 NM_001278596 Approved uc001qnm.2 Q9NQ90 ENST00000356134.5:c.558C>T 12.__UNKNOWN__:g.5963272G>A C4N787|Q9H847 __UNKNOWN__ ANO2-001 KNOWN basic protein_coding protein_coding OTTHUMT00000399019.4 - ENST00000356134.5 Silent SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN HEATR2 54919 broad.mit.edu 37 7 769319 769319 + Silent SNP G G A TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr7:769319G>A ENST00000297440.6 + 2.0 635 c.615G>A c.(613-615)tcG>tcA p.S205S HEATR2_ENST00000313147.5_Silent_p.S205S|HEATR2_ENST00000438961.1_3'UTR NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 205.0 cytoplasm (GO:0005737) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22.0 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) ACATGCAGTCGGAGTCTCTGA 0.627 0 56.0 49.0 51.0 7 769319.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AL832914, AK000404, NM_017802, AK056233 CCDS34580.1 7p22.3 2014-05-06 2006-05-19 ENSG00000164818 ENSG00000164818 54919.0 54919.0 26013.0 protein-coding gene gene with protein product 614864 23040496 Standard NM_017802 NM_017802 Approved FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18 uc010krz.1 Q86Y56 OTTHUMG00000151416 ENST00000297440.6:c.615G>A 7.__UNKNOWN__:g.769319G>A Q69YL1|Q96FI9|Q9NX75 __UNKNOWN__ CCDS34580.1 HEATR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000322542.1 + ENST00000297440.6 Silent SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN ADAMTS12 81792 broad.mit.edu 37 5 33577007 33577007 + Missense_Mutation SNP T T C TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr5:33577007T>C ENST00000504830.1 - 19.0 3459 c.3124A>G c.(3124-3126)Agc>Ggc p.S1042G ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S957G NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1042.0 Spacer 2. cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727) extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) 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) 216.0 GTGCTTGTGCTCATAGACTCA 0.537 HNSCC(64;0.19) 0 151.0 144.0 146.0 5 33577007.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ250725 CCDS34140.1 5q35 2008-07-18 2005-08-19 ENSG00000151388 ENSG00000151388 81792.0 81792.0 """ADAM metallopeptidases with thrombospondin type 1 motif""" 14605.0 protein-coding gene gene with protein product 606184 """a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12""" 11279086 Standard NM_030955 NM_030955 Approved uc003jia.1 P58397 OTTHUMG00000162088 ENST00000504830.1:c.3124A>G 5.__UNKNOWN__:g.33577007T>C ENSP00000422554:p.Ser1042Gly A2RRN9|A5D6V6|Q6UWL3 __UNKNOWN__ CCDS34140.1 . . . . . . . . . . T 4.543 0.100806 0.08731 . . ENSG00000151388 ENST00000504830;ENST00000352040 T;T 0.59906 0.24;0.23 5.08 2.71 0.32032 . 0.820694 0.11549 N 0.553010 T 0.44603 0.1301 L 0.34521 1.04 0.09310 N 1 B;B 0.26147 0.143;0.088 B;B 0.30572 0.117;0.055 T 0.34030 -0.9845 10 0.22109 T 0.4 . 7.4007 0.26962 0.0:0.2449:0.0:0.7551 . 957;1042 P58397-3;P58397 .;ATS12_HUMAN G 1042;957 ENSP00000422554:S1042G;ENSP00000344847:S957G ENSP00000344847:S957G S - 1 0 ADAMTS12 33612764 0.004000 0.15560 0.003000 0.11579 0.019000 0.09904 1.361000 0.34136 0.420000 0.25954 0.533000 0.62120 AGC ADAMTS12-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367164.2 - ENST00000504830.1 Missense_Mutation SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN ZNF334 55713 broad.mit.edu 37 20 45130892 45130892 + Silent SNP C C T rs140945220 TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr20:45130892C>T ENST00000347606.4 - 5.0 1268 c.1086G>A c.(1084-1086)tcG>tcA p.S362S ZNF334_ENST00000593880.1_Silent_p.S385S|ZNF334_ENST00000457685.2_Silent_p.S324S NM_018102.4 NP_060572.3 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 362.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32.0 Myeloproliferative disorder(115;0.0122) CAACAAGATACGATTTCTTGC 0.458 0 C , 6,4400 11.4+/-27.6 0,6,2197 193.0 192.0 192.0 1086,972 -6.6 0.0 20 dbSNP_134 192.0 4,8596 3.7+/-12.6 0,4,4296 no coding-synonymous,coding-synonymous ZNF334 NM_018102.3,NM_199441.1 , 0,10,6493 TT,TC,CC 0.0465,0.1362,0.0769 , 362/681,324/643 45130892.0 10,12996 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK001331 CCDS33480.1, CCDS74736.1 20q13.12 2013-09-20 ENSG00000198185 ENSG00000198185 55713.0 55713.0 """Zinc fingers, C2H2-type"", ""-""" 15806.0 protein-coding gene gene with protein product Standard NM_018102 Approved bA179N14.1 uc002xsc.4 Q9HCZ1 OTTHUMG00000032654 ENST00000347606.4:c.1086G>A 20.__UNKNOWN__:g.45130892C>T Q5T6U2|Q9NVW4 __UNKNOWN__ CCDS33480.1 ZNF334-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079575.1 - ENST00000347606.4 Silent SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN ASZ1 136991 broad.mit.edu 37 7 117025822 117025822 + Missense_Mutation SNP T T C TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr7:117025822T>C ENST00000284629.2 - 5.0 544 c.482A>G c.(481-483)cAc>cGc p.H161R NM_130768.2 NP_570124.1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24.0 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) AACCTGGGTGTGACCATCTCG 0.408 0 111.0 107.0 108.0 7 117025822.0 2203.0 4300.0 6503.0 SO:0001583 missense AF461259 CCDS5772.1 7q31.2 2013-01-10 2005-03-15 2004-07-16 ENSG00000154438 ENSG00000154438 136991.0 136991.0 """Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing""" 1350.0 protein-coding gene gene with protein product 605797 """ankyrin-like 1""" C7orf7, ANKL1 12040005, 11279520 Standard NM_130768 NM_130768 Approved Orf3, GASZ, ALP1, CT1.19 uc003vjb.2 Q8WWH4 OTTHUMG00000064565 ENST00000284629.2:c.482A>G 7.__UNKNOWN__:g.117025822T>C ENSP00000284629:p.His161Arg __UNKNOWN__ CCDS5772.1 . . . . . . . . . . T 17.29 3.353271 0.61293 . . ENSG00000154438 ENST00000284629 T 0.65732 -0.17 5.91 4.77 0.60923 Ankyrin repeat-containing domain (4); 0.162323 0.56097 D 0.000040 T 0.63498 0.2516 N 0.17082 0.46 0.40887 D 0.984042 D;D 0.89917 1.0;1.0 D;D 0.77004 0.989;0.989 T 0.65726 -0.6098 10 0.46703 T 0.11 2.5901 11.0341 0.47791 0.0:0.0736:0.0:0.9264 . 161;161 B7ZM20;Q8WWH4 .;ASZ1_HUMAN R 161 ENSP00000284629:H161R ENSP00000284629:H161R H - 2 0 ASZ1 116813058 1.000000 0.71417 0.998000 0.56505 0.941000 0.58515 4.173000 0.58249 1.071000 0.40834 -0.256000 0.11100 CAC ASZ1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000138907.7 - ENST00000284629.2 Missense_Mutation SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN LPPR4 0 broad.mit.edu 37 1 99772002 99772002 + Silent SNP C C T TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr1:99772002C>T ENST00000370185.3 + 7.0 2225 c.1728C>T c.(1726-1728)atC>atT p.I576I LPPR4_ENST00000370184.1_Silent_p.I418I|LPPR4_ENST00000457765.1_Silent_p.I518I NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 576.0 axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839) integral component of plasma membrane (GO:0005887) lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195) 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) 72.0 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) AGCCCCGAATCATGCAAGTCA 0.547 0 59.0 60.0 59.0 1 99772002.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant ENST00000370185.3:c.1728C>T 1.__UNKNOWN__:g.99772002C>T E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0 __UNKNOWN__ CCDS757.1 LPPR4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000029670.2 + ENST00000370185.3 Silent SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN FBN3 84467 broad.mit.edu 37 19 8181576 8181576 + Missense_Mutation SNP C C T TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr19:8181576C>T ENST00000600128.1 - 29.0 4108 c.3694G>A c.(3694-3696)Gac>Aac p.D1232N FBN3_ENST00000601739.1_Missense_Mutation_p.D1232N|FBN3_ENST00000270509.2_Missense_Mutation_p.D1232N Q75N90 FBN3_HUMAN fibrillin 3 1232.0 EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}. proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) 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) 132.0 GTCCTCATGTCTGGCGTGGCC 0.617 0 75.0 68.0 70.0 19 8181576.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS12196.1 19p13 2008-02-05 84467.0 84467.0 18794.0 protein-coding gene gene with protein product 608529 Standard NM_032447 NM_032447 Approved uc002mjf.3 Q75N90 ENST00000600128.1:c.3694G>A 19.__UNKNOWN__:g.8181576C>T ENSP00000470498:p.Asp1232Asn Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8 __UNKNOWN__ CCDS12196.1 . . . . . . . . . . C 28.1 4.891255 0.91889 . . ENSG00000142449 ENST00000270509 D 0.87887 -2.31 4.15 4.15 0.48705 EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1); 0.000000 0.85682 U 0.000000 D 0.91466 0.7306 L 0.55481 1.735 0.80722 D 1 D 0.89917 1.0 D 0.83275 0.996 D 0.91827 0.5472 10 0.51188 T 0.08 . 16.2013 0.82084 0.0:1.0:0.0:0.0 . 1232 Q75N90 FBN3_HUMAN N 1232 ENSP00000270509:D1232N ENSP00000270509:D1232N D - 1 0 FBN3 8087576 1.000000 0.71417 0.229000 0.23960 0.300000 0.27592 7.168000 0.77570 2.154000 0.67381 0.448000 0.29417 GAC FBN3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000461428.2 - ENST00000600128.1 Missense_Mutation SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN FBN3 84467 broad.mit.edu 37 19 8130917 8130917 + Silent SNP G G C TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr19:8130917G>C ENST00000600128.1 - 64.0 8730 c.8316C>G c.(8314-8316)acC>acG p.T2772T FBN3_ENST00000601739.1_Silent_p.T2772T|FBN3_ENST00000270509.2_Silent_p.T2772T Q75N90 FBN3_HUMAN fibrillin 3 2772.0 proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) 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) 132.0 CCAGCCGGTAGGTTCCAGGCC 0.677 0 40.0 43.0 42.0 19 8130917.0 2202.0 4299.0 6501.0 SO:0001819 synonymous_variant CCDS12196.1 19p13 2008-02-05 84467.0 84467.0 18794.0 protein-coding gene gene with protein product 608529 Standard NM_032447 NM_032447 Approved uc002mjf.3 Q75N90 ENST00000600128.1:c.8316C>G 19.__UNKNOWN__:g.8130917G>C Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8 __UNKNOWN__ CCDS12196.1 FBN3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000461428.2 - ENST00000600128.1 Silent SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN FAM187B 148109 broad.mit.edu 37 19 35715812 35715812 + Silent SNP G G A TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr19:35715812G>A ENST00000324675.3 - 2.0 1074 c.1026C>T c.(1024-1026)acC>acT p.T342T NM_152481.1 NP_689694.1 Q17R55 F187B_HUMAN family with sequence similarity 187, member B 342.0 integral component of membrane (GO:0016021) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 9.0 GGGCCAGGACGGTGACCACGA 0.672 0 34.0 35.0 34.0 19 35715812.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK098526 CCDS12448.1 19q13.12 2008-10-16 2008-10-16 2008-10-16 ENSG00000177558 ENSG00000177558 148109.0 148109.0 26366.0 protein-coding gene gene with protein product """transmembrane protein 162""" TMEM162 Standard NM_152481 NM_152481 Approved FLJ25660 uc002nyk.1 Q17R55 OTTHUMG00000164450 ENST00000324675.3:c.1026C>T 19.__UNKNOWN__:g.35715812G>A Q8N7G6 __UNKNOWN__ CCDS12448.1 FAM187B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378854.1 - ENST00000324675.3 Silent SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN ZNF493 284443 broad.mit.edu 37 19 21607388 21607388 + Missense_Mutation SNP C C G TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr19:21607388C>G ENST00000392288.2 + 4.0 2036 c.1927C>G c.(1927-1929)Cac>Gac p.H643D CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.H515D NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 515.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) 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) 30.0 GCGGTCCTCACACCTCGCTGG 0.368 0 43.0 48.0 47.0 19 21607388.0 2198.0 4293.0 6491.0 SO:0001583 missense AK093823, BC006408, BC022394 CCDS12412.1, CCDS42536.1, CCDS12411.1 19p12 2013-01-08 ENSG00000196268 ENSG00000196268 284443.0 284443.0 """Zinc fingers, C2H2-type"", ""-""" 23708.0 protein-coding gene gene with protein product Standard NM_175910 NM_001076678 Approved FLJ36504 uc002npw.3 Q6ZR52 OTTHUMG00000141297 ENST00000392288.2:c.1927C>G 19.__UNKNOWN__:g.21607388C>G ENSP00000376110:p.His643Asp G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99 __UNKNOWN__ CCDS42536.1 . . . . . . . . . . N 0 -2.699538 0.00097 . . ENSG00000196268 ENST00000392288;ENST00000355504 T;T 0.13089 2.62;2.62 0.361 -0.721 0.11189 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.07007 0.0178 N 0.13352 0.335 0.09310 N 0.999999 B;B 0.22541 0.01;0.071 B;B 0.19946 0.022;0.027 T 0.39742 -0.9599 9 0.22706 T 0.39 . 6.9525 0.24552 0.4759:0.5241:0.0:0.0 . 515;643 Q6ZR52;Q6ZR52-2 ZN493_HUMAN;. D 643;515 ENSP00000376110:H643D;ENSP00000347691:H515D ENSP00000347691:H515D H + 1 0 ZNF493 21399228 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -4.536000 0.00219 -2.190000 0.00757 -2.240000 0.00288 CAC ZNF493-002 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000280562.1 + ENST00000392288.2 Missense_Mutation SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN TNPO1 3842 broad.mit.edu 37 5 72192307 72192307 + Silent SNP A A G TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr5:72192307A>G ENST00000506351.2 + 19.0 2219 c.2142A>G c.(2140-2142)ggA>ggG p.G714G TNPO1_ENST00000523768.1_Silent_p.G672G|TNPO1_ENST00000454282.1_Silent_p.G672G|TNPO1_ENST00000337273.5_Silent_p.G722G NM_153188.2 NP_694858.1 Q92973 TNPO1_HUMAN transportin 1 722.0 gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 36.0 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) CAATATTGGGAACCAACCTAA 0.328 0 63.0 63.0 63.0 5 72192307.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U70322 CCDS4016.1, CCDS43329.1 5q13.1 2009-01-12 2004-01-29 2004-01-30 ENSG00000083312 ENSG00000083312 3842.0 3842.0 """Importins""" 6401.0 protein-coding gene gene with protein product """importin 2""" 602901 """karyopherin (importin) beta 2""" KPNB2 8808633, 9144189 Standard NM_002270 NM_153188 Approved MIP, TRN, IPO2, MIP1 uc003kci.4 Q92973 OTTHUMG00000100967 ENST00000506351.2:c.2142A>G 5.__UNKNOWN__:g.72192307A>G B4DVC6|Q92957|Q92975 __UNKNOWN__ CCDS4016.1 TNPO1-006 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000368911.3 + ENST00000506351.2 Silent SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN PAXIP1 22976 broad.mit.edu 37 7 154767578 154767578 + Missense_Mutation SNP C C T TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr7:154767578C>T ENST00000404141.1 - 6.0 1056 c.902G>A c.(901-903)gGt>gAt p.G301D PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.G301D Q6ZW49 PAXI1_HUMAN PAX interacting (with transcription-activation domain) protein 1 301.0 adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 33.0 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) CAAAATGTTACCTGGGACGGG 0.527 0 61.0 57.0 58.0 7 154767578.0 1860.0 4103.0 5963.0 SO:0001583 missense U80735 CCDS47753.1 7q36 2007-07-06 2005-04-05 2005-04-05 ENSG00000157212 ENSG00000157212 22976.0 22976.0 8624.0 protein-coding gene gene with protein product 608254 """PAX transcription activation domain interacting protein 1 like""" PAXIP1L 9225980 Standard NM_007349 XM_005249539 Approved CAGF29, CAGF28, TNRC2, PTIP uc022aqf.1 Q6ZW49 OTTHUMG00000151322 ENST00000404141.1:c.902G>A 7.__UNKNOWN__:g.154767578C>T ENSP00000384048:p.Gly301Asp O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2 __UNKNOWN__ CCDS47753.1 . . . . . . . . . . C 23.9 4.476070 0.84640 . . ENSG00000157212 ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199 T;T 0.56444 0.46;0.46 5.04 5.04 0.67666 . 0.102357 0.40908 U 0.000997 T 0.71762 0.3378 M 0.66939 2.045 0.52099 D 0.999941 D;D;D;D 0.89917 0.976;1.0;0.994;1.0 P;D;P;D 0.81914 0.661;0.995;0.817;0.983 T 0.73672 -0.3909 10 0.56958 D 0.05 -26.6964 18.7519 0.91819 0.0:1.0:0.0:0.0 . 254;210;267;301 B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49 .;.;.;PAXI1_HUMAN D 301;301;249;254 ENSP00000384048:G301D;ENSP00000380376:G301D ENSP00000319149:G254D G - 2 0 PAXIP1 154398511 1.000000 0.71417 0.527000 0.27925 0.859000 0.49053 6.596000 0.74113 2.495000 0.84180 0.305000 0.20034 GGT PAXIP1-001 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000322223.1 - ENST00000404141.1 Missense_Mutation SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN LMX1B 4010 bcgsc.ca 37 9 129458244 129458244 + Missense_Mutation SNP C C T TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr9:129458244C>T ENST00000561065.1 + 7.0 1027 c.977C>T c.(976-978)aCg>aTg p.T326M LMX1B_ENST00000355497.5_Missense_Mutation_p.T349M|LMX1B_ENST00000373474.4_Missense_Mutation_p.T338M|LMX1B_ENST00000425646.2_Missense_Mutation_p.T315M|LMX1B_ENST00000526117.1_Missense_Mutation_p.T338M O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 338.0 cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 15.0 CAGGGCCTCACGCCGCCCCAA 0.687 Nail-Patella Syndrome Pancreas(110;1796 2278 18357 20466) 0 55.0 49.0 51.0 9 129458244.0 2199.0 4299.0 6498.0 SO:0001583 missense Familial Cancer Database Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease U77457 CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1 9q33.3 2011-06-20 ENSG00000136944 ENSG00000136944 4010.0 4010.0 """Homeoboxes / LIM class""" 6654.0 protein-coding gene gene with protein product 602575 NPS1 9441763, 9590287 Standard NM_002316 Approved uc004bqj.3 O60663 OTTHUMG00000020692 ENST00000561065.1:c.977C>T 9.__UNKNOWN__:g.129458244C>T ENSP00000453580:p.Thr326Met F8W7W6|O75463|Q5JU95|Q6ISC9 __UNKNOWN__ . . . . . . . . . . C 23.4 4.408827 0.83340 . . ENSG00000136944 ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646 T;T;T;T 0.78246 -1.16;-1.16;-1.16;-1.16 4.79 4.79 0.61399 . 0.000000 0.85682 D 0.000000 D 0.87168 0.6110 M 0.69823 2.125 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 0.996;0.999;1.0 D 0.87984 0.2745 10 0.52906 T 0.07 . 16.8089 0.85713 0.0:1.0:0.0:0.0 . 326;315;338 B7ZLH2;O60663;F8VYP0 .;LMX1B_HUMAN;. M 338;338;349;315 ENSP00000436930:T338M;ENSP00000362573:T338M;ENSP00000347684:T349M;ENSP00000390923:T315M ENSP00000347684:T349M T + 2 0 LMX1B 128498065 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 7.456000 0.80751 2.220000 0.72140 0.555000 0.69702 ACG LMX1B-003 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000415751.1 + ENST00000561065.1 Missense_Mutation SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN VWA7 80737 bcgsc.ca 37 6 31743842 31743842 + Missense_Mutation SNP C C T rs147409390 by1000genomes TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr6:31743842C>T ENST00000375688.4 - 3.0 612 c.412G>A c.(412-414)Gcg>Acg p.A138T VWA7_ENST00000447450.1_Missense_Mutation_p.A138T|VWA7_ENST00000467576.1_Intron|VWA7_ENST00000375686.3_Missense_Mutation_p.A138T Q9Y334 VWA7_HUMAN von Willebrand factor A domain containing 7 138.0 extracellular region (GO:0005576) ACCAGGCGCGCGCGTCCCTGA 0.662 C 9.0 0.0041 0.002 0.02 2184.0 0.0035 0.9997 , , 0.0002 0.0041 0.9665 LOWCOV,EXOME 0.0002 SNP 0 C THR/ALA 1,4405 2.1+/-5.4 0,1,2202 70.0 72.0 71.0 412 -4.0 0.0 6 dbSNP_134 71.0 0,8600 0,0,4300 yes missense C6orf27 NM_025258.2 58 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 benign 138/892 31743842.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense CCDS4721.2 6p21 2011-12-13 2011-12-13 2011-12-13 ENSG00000204396 ENSG00000204396 80737.0 80737.0 13939.0 protein-coding gene gene with protein product 609693 """chromosome 6 open reading frame 27""" C6orf27 Standard NM_025258 NM_025258 Approved G7c, NG37 uc011dog.2 Q9Y334 OTTHUMG00000031132 ENST00000375688.4:c.412G>A 6.__UNKNOWN__:g.31743842C>T ENSP00000364840:p.Ala138Thr A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9 __UNKNOWN__ CCDS4721.2 9 0.004120879120879121 1 0.0020325203252032522 6 0.016574585635359115 2 0.0034965034965034965 0 0.0 C 0.132 -1.112634 0.01799 2.27E-4 0.0 ENSG00000204396 ENST00000375688;ENST00000375686;ENST00000447450 T;T;T 0.14516 2.5;2.5;2.5 5.23 -3.95 0.04118 . 0.910321 0.09510 N 0.792361 T 0.01661 0.0053 N 0.10809 0.05 0.09310 N 1 B 0.06786 0.001 B 0.04013 0.001 T 0.47736 -0.9094 10 0.12430 T 0.62 0.1802 12.2991 0.54864 0.0:0.5035:0.0:0.4965 . 138 Q9Y334 G7C_HUMAN T 138 ENSP00000364840:A138T;ENSP00000364838:A138T;ENSP00000390554:A138T ENSP00000364838:A138T A - 1 0 C6orf27 31851821 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -0.473000 0.06615 -0.900000 0.03896 -1.353000 0.01230 GCG VWA7-001 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076233.2 - ENST00000375688.4 Missense_Mutation SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN DEF8 54849 ucsc.edu 37 16 90032299 90032299 + Nonsense_Mutation SNP T T A TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr16:90032299T>A ENST00000563594.1 + 13.0 2281 c.1284T>A c.(1282-1284)tgT>tgA p.C428* DEF8_ENST00000567874.1_Nonsense_Mutation_p.C368*|DEF8_ENST00000268676.7_Nonsense_Mutation_p.C489*|DEF8_ENST00000563795.1_Nonsense_Mutation_p.C411*|DEF8_ENST00000569453.1_Nonsense_Mutation_p.C428*|DEF8_ENST00000570182.1_Nonsense_Mutation_p.C418* NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) 489.0 intracellular signal transduction (GO:0035556) zinc ion binding (GO:0008270) central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12.0 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) CCACCACTTGTCCCAAGTGTG 0.632 0 51.0 43.0 46.0 16 90032299.0 2198.0 4300.0 6498.0 SO:0001587 stop_gained AK131370 CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1 16q24.3 2011-01-31 ENSG00000140995 ENSG00000140995 54849.0 54849.0 25969.0 protein-coding gene gene with protein product 12477932 Standard NM_207514 NM_207514 Approved FLJ20186 uc002fpn.2 Q6ZN54 OTTHUMG00000138989 ENST00000563594.1:c.1284T>A 16.__UNKNOWN__:g.90032299T>A ENSP00000458019:p.Cys428* B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0 __UNKNOWN__ CCDS58493.1 . . . . . . . . . . T 16.51 3.143307 0.57044 . . ENSG00000140995 ENST00000268676 . . . 4.44 -1.03 0.10102 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 -24.8174 9.3825 0.38322 0.0:0.6172:0.0:0.3828 . . . . X 489 . ENSP00000268676:C489X C + 3 2 DEF8 88559800 0.928000 0.31464 0.939000 0.37840 0.806000 0.45545 -0.003000 0.12901 -0.054000 0.13266 -0.232000 0.12228 TGT DEF8-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000421870.1 + ENST00000563594.1 Nonsense_Mutation SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN EEPD1 80820 ucsc.edu 37 7 36336650 36336650 + Missense_Mutation SNP G G A TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr7:36336650G>A ENST00000242108.4 + 7.0 2082 c.1364G>A c.(1363-1365)aGc>aAc p.S455N EEPD1_ENST00000534978.1_Missense_Mutation_p.S455N NM_030636.2 NP_085139.2 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family domain containing 1 455.0 DNA repair (GO:0006281) DNA binding (GO:0003677) endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18.0 GGGCCAGACAGCAATGACTAT 0.468 0 115.0 109.0 111.0 7 36336650.0 2203.0 4300.0 6503.0 SO:0001583 missense AK027386 CCDS34619.1 7p14.2 2007-12-07 2007-12-07 ENSG00000122547 ENSG00000122547 80820.0 80820.0 22223.0 protein-coding gene gene with protein product Standard NM_030636 NM_030636 Approved KIAA1706 uc003tfa.3 Q7L9B9 OTTHUMG00000154904 ENST00000242108.4:c.1364G>A 7.__UNKNOWN__:g.36336650G>A ENSP00000242108:p.Ser455Asn Q96K64|Q9C0F7 __UNKNOWN__ CCDS34619.1 . . . . . . . . . . G 20.2 3.945029 0.73672 . . ENSG00000122547 ENST00000242108;ENST00000534978 D;D 0.95980 -3.87;-3.87 5.09 5.09 0.68999 Endonuclease/exonuclease/phosphatase (2); 0.123452 0.85682 D 0.000000 D 0.95401 0.8507 L 0.60455 1.87 0.54753 D 0.999981 P 0.51537 0.946 P 0.54060 0.741 D 0.93063 0.6476 10 0.16896 T 0.51 -39.4113 14.9567 0.71120 0.0:0.1428:0.8572:0.0 . 455 Q7L9B9 EEPD1_HUMAN N 455 ENSP00000242108:S455N;ENSP00000442692:S455N ENSP00000242108:S455N S + 2 0 EEPD1 36303175 1.000000 0.71417 1.000000 0.80357 0.457000 0.32468 4.427000 0.59888 2.759000 0.94783 0.555000 0.69702 AGC EEPD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337602.1 + ENST00000242108.4 Missense_Mutation SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN LIMCH1 22998 ucsc.edu 37 4 41668634 41668634 + Silent SNP C C T TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr4:41668634C>T ENST00000514096.1 + 10.0 1936 c.1716C>T c.(1714-1716)gaC>gaT p.D572D LIMCH1_ENST00000512820.1_Silent_p.D719D|LIMCH1_ENST00000503057.1_Silent_p.D1116D|LIMCH1_ENST00000511496.1_Silent_p.D572D|LIMCH1_ENST00000313860.7_Silent_p.D731D|LIMCH1_ENST00000381753.4_Silent_p.D565D|LIMCH1_ENST00000513024.1_Silent_p.D560D|LIMCH1_ENST00000508501.1_Silent_p.D731D|LIMCH1_ENST00000512632.1_Intron|LIMCH1_ENST00000512946.1_Silent_p.D731D|LIMCH1_ENST00000509277.1_Silent_p.D565D|LIMCH1_ENST00000396595.3_Silent_p.D577D Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 731.0 actomyosin structure organization (GO:0031032) zinc ion binding (GO:0008270) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41.0 CATTTCTGGACAAAATGCCTG 0.413 0 116.0 99.0 105.0 4 41668634.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB029025 CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1 4p13 2007-06-14 2008-01-09 ENSG00000064042 ENSG00000064042 22998.0 22998.0 29191.0 protein-coding gene gene with protein product 10470851 Standard NM_014988 XM_005248057 Approved DKFZP686A01247, LIMCH1A, LMO7B uc003gvz.4 Q9UPQ0 OTTHUMG00000160575 ENST00000514096.1:c.1716C>T 4.__UNKNOWN__:g.41668634C>T A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2 __UNKNOWN__ . . . . . . . . . . C 1.441 -0.567661 0.03910 . . ENSG00000064042 ENST00000508466 . . . 5.38 1.72 0.24424 . . . . . T 0.42743 0.1216 . . . 0.80722 D 1 . . . . . . T 0.22068 -1.0227 4 . . . -17.7926 1.5582 0.02589 0.2944:0.4025:0.143:0.1601 . . . . I 566 . . T + 2 0 LIMCH1 41363391 1.000000 0.71417 0.997000 0.53966 0.241000 0.25554 0.842000 0.27627 0.105000 0.17753 -0.182000 0.12963 ACA LIMCH1-014 NOVEL alternative_5_UTR|basic|exp_conf protein_coding protein_coding OTTHUMT00000361261.1 + ENST00000514096.1 Silent SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN PSMA7 5688 ucsc.edu 37 20 60714799 60714799 + Missense_Mutation SNP G G A TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr20:60714799G>A ENST00000370873.4 - 3.0 475 PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370861.1_Intron|PSMA7_ENST00000370858.3_Missense_Mutation_p.A129V NM_002792.3 NP_002783.1 O14818 PSA7_HUMAN proteasome (prosome, macropain) subunit, alpha type, 7 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773) identical protein binding (GO:0042802)|threonine-type endopeptidase activity (GO:0004298) large_intestine(1)|lung(2) 3.0 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) TGACTGCCCTGCTGCCAGAGG 0.572 0 48.0 40.0 43.0 20 60714799.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AF022815 CCDS13489.1 20q13.33 2008-07-02 ENSG00000101182 ENSG00000101182 5688.0 5688.0 """Proteasome (prosome, macropain) subunits""" 9536.0 protein-coding gene gene with protein product """proteasome subunit XAPC7"", ""proteasome subunit RC6-1""" 606607 8764072 Standard NM_002792 NM_002792 Approved XAPC7, C6, HSPC, RC6-1 uc002ybx.2 O14818 OTTHUMG00000032895 ENST00000370873.4:c.348+37C>T 20.__UNKNOWN__:g.60714799G>A B2R515|Q5JXJ2|Q9BR53|Q9H4K5|Q9UEU8 __UNKNOWN__ CCDS13489.1 . . . . . . . . . . . 1.019 -0.685540 0.03328 . . ENSG00000101182 ENST00000370858 T 0.51325 0.71 2.96 -5.91 0.02269 . . . . . T 0.21186 0.0510 . . . 0.09310 N 1 . . . . . . T 0.20371 -1.0277 6 0.19147 T 0.46 . 1.7576 0.02985 0.2179:0.2003:0.4354:0.1464 . . . . V 129 ENSP00000359895:A129V ENSP00000359895:A129V A - 2 0 PSMA7 60148194 0.000000 0.05858 0.000000 0.03702 0.031000 0.12232 -0.207000 0.09384 -1.445000 0.01948 -0.379000 0.06801 GCA PSMA7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079975.1 - ENST00000370873.4 Intron SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN TANC2 26115 ucsc.edu 37 17 61396351 61396351 + Missense_Mutation SNP A A G TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr17:61396351A>G ENST00000424789.2 + 9.0 1257 c.1253A>G c.(1252-1254)cAg>cGg p.Q418R AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.Q418R NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 418.0 in utero embryonic development (GO:0001701) 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) 44.0 CCACTCACACAGCCACCTTCA 0.478 0 38.0 42.0 40.0 17 61396351.0 2105.0 4222.0 6327.0 SO:0001583 missense AB032974 CCDS45754.1 17q23.3 2013-01-11 ENSG00000170921 26115.0 26115.0 """Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing""" 30212.0 protein-coding gene gene with protein product """rolling pebbles homolog B (Drosophila)""" 615047 Standard NM_025185 Approved DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA uc002jal.4 Q9HCD6 ENST00000424789.2:c.1253A>G 17.__UNKNOWN__:g.61396351A>G ENSP00000387593:p.Gln418Arg Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2 __UNKNOWN__ CCDS45754.1 . . . . . . . . . . A 21.7 4.190765 0.78789 . . ENSG00000170921 ENST00000389520;ENST00000424789 T;T 0.67698 -0.28;-0.28 5.27 5.27 0.74061 . 0.000000 0.85682 D 0.000000 T 0.74321 0.3701 M 0.61703 1.905 0.47737 D 0.999504 D;P 0.56968 0.978;0.893 P;P 0.58266 0.836;0.694 T 0.70894 -0.4748 10 0.15952 T 0.53 . 15.1871 0.73012 1.0:0.0:0.0:0.0 . 418;418 Q9HCD6-2;Q9HCD6 .;TANC2_HUMAN R 418 ENSP00000374171:Q418R;ENSP00000387593:Q418R ENSP00000374171:Q418R Q + 2 0 TANC2 58750083 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.050000 0.93843 2.000000 0.58554 0.477000 0.44152 CAG TANC2-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000444765.1 + ENST00000424789.2 Missense_Mutation SNP PCPG-TCGA-TT-A6YP-Normal-SM-5EMNN C6orf201 404220 broad.mit.edu 37 6 4122204 4122204 + Silent SNP A A G TCGA-W2-A7H5-01B-11D-A35I-08 TCGA-W2-A7H5-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 906c1c9f-7beb-4389-a3d4-56025e606b9f 501494b0-58f4-47d0-a5f3-98c2ffdbefee g.chr6:4122204A>G ENST00000380175.4 + 4.0 1071 c.306A>G c.(304-306)gtA>gtG p.V102V ECI2_ENST00000361538.2_Intron|C6orf201_ENST00000430835.2_Silent_p.V102V|ECI2_ENST00000465828.1_Intron|ECI2_ENST00000380125.2_Intron|C6orf201_ENST00000333388.5_Silent_p.V105V|ECI2_ENST00000380118.3_Intron|ECI2_ENST00000413766.2_Intron NM_001085401.2 NP_001078870.1 Q7Z4U5 CF201_HUMAN chromosome 6 open reading frame 201 102.0 central_nervous_system(1)|endometrium(3)|lung(2) 6.0 Ovarian(93;0.0925) all_hematologic(90;0.0895) AAAAAAATGTACCCAGAAGAC 0.338 0 61.0 56.0 58.0 6 4122204.0 1817.0 4086.0 5903.0 SO:0001819 synonymous_variant BC047663 CCDS43419.1 6p25.2 2012-02-21 ENSG00000185689 ENSG00000185689 404220.0 404220.0 21620.0 protein-coding gene gene with protein product Standard NM_001085401 NM_001085401 Approved dJ1013A10.5 uc003mwa.4 Q7Z4U5 OTTHUMG00000014160 ENST00000380175.4:c.306A>G 6.__UNKNOWN__:g.4122204A>G A6NLI6|Q6NXN5 __UNKNOWN__ CCDS43419.1 . . . . . . . . . . A 1.974 -0.435834 0.04636 . . ENSG00000185689 ENST00000541127 . . . 2.38 -0.591 0.11675 . 2.679950 0.01679 N 0.026030 T 0.06554 0.0168 . . . 0.09310 N 1 . . . . . . T 0.12477 -1.0546 6 0.24483 T 0.36 . 1.9421 0.03348 0.517:0.0:0.1879:0.2952 . . . . A 177 . ENSP00000439073:T177A T + 1 0 C6orf201 4067203 0.000000 0.05858 0.000000 0.03702 0.032000 0.12392 -0.976000 0.03786 -0.112000 0.11979 -0.527000 0.04329 ACC C6orf201-001 KNOWN NMD_exception|basic|appris_candidate|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000314019.2 + ENST00000380175.4 Silent SNP PCPG-TCGA-W2-A7H5-Normal-SM-5EMLL OBSCN 84033 broad.mit.edu 37 1 228505606 228505606 + Silent SNP G G A TCGA-W2-A7H5-01B-11D-A35I-08 TCGA-W2-A7H5-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 906c1c9f-7beb-4389-a3d4-56025e606b9f 501494b0-58f4-47d0-a5f3-98c2ffdbefee g.chr1:228505606G>A ENST00000570156.2 + 64.0 16808 c.16734G>A c.(16732-16734)aaG>aaA p.K5578K OBSCN_ENST00000366709.4_Silent_p.K1740K|OBSCN_ENST00000422127.1_Silent_p.K4621K|OBSCN_ENST00000366707.4_Silent_p.K2255K|OBSCN_ENST00000284548.11_Silent_p.K4621K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4621.0 apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018) ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432) 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) 223.0 Prostate(94;0.0405) AGCCACCGAAGCCTGTGCCTC 0.662 0 22.0 25.0 24.0 1 228505606.0 2034.0 4174.0 6208.0 SO:0001819 synonymous_variant AJ002535 CCDS1570.2, CCDS58065.1, CCDS59204.1 1q42 2014-09-17 ENSG00000154358 ENSG00000154358 84033.0 84033.0 """Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 15719.0 protein-coding gene gene with protein product 608616 11448995, 11814696 Standard NM_052843 NM_001098623 Approved KIAA1556, UNC89, KIAA1639, ARHGEF30 uc001hsq.2 Q5VST9 OTTHUMG00000039772 ENST00000570156.2:c.16734G>A 1.__UNKNOWN__:g.228505606G>A Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6 __UNKNOWN__ CCDS59204.1 OBSCN-011 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000421354.3 + ENST00000570156.2 Silent SNP PCPG-TCGA-W2-A7H5-Normal-SM-5EMLL FGD2 221472 broad.mit.edu 37 6 36995325 36995325 + Missense_Mutation SNP G G A TCGA-W2-A7H5-01B-11D-A35I-08 TCGA-W2-A7H5-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 906c1c9f-7beb-4389-a3d4-56025e606b9f 501494b0-58f4-47d0-a5f3-98c2ffdbefee g.chr6:36995325G>A ENST00000274963.8 + 15.0 1897 c.1726G>A c.(1726-1728)Gtg>Atg p.V576M NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 576.0 PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}. actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726) guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267) central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25.0 TGACCCCCTCGTGCTCTATGT 0.662 0 71.0 65.0 67.0 6 36995325.0 2203.0 4300.0 6503.0 SO:0001583 missense AK097230 CCDS4829.1 6p21.2 2013-01-10 2004-08-24 ENSG00000146192 ENSG00000146192 221472.0 221472.0 """Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing""" 3664.0 protein-coding gene gene with protein product 605091 """FGD1 family, member 2""" 10458911 Standard NM_173558 NM_173558 Approved ZFYVE4 uc010jwp.1 Q7Z6J4 OTTHUMG00000014616 ENST00000274963.8:c.1726G>A 6.__UNKNOWN__:g.36995325G>A ENSP00000274963:p.Val576Met Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2 __UNKNOWN__ CCDS4829.1 . . . . . . . . . . G 21.0 4.087672 0.76642 . . ENSG00000146192 ENST00000274963;ENST00000394459 T 0.69806 -0.43 5.82 5.82 0.92795 Pleckstrin homology-type (1);Pleckstrin homology domain (2); 0.167937 0.28290 N 0.015900 T 0.81494 0.4834 M 0.80847 2.515 0.47245 D 0.99936 D;D 0.89917 1.0;1.0 D;D 0.79108 0.92;0.992 T 0.82762 -0.0297 10 0.87932 D 0 -6.9666 19.7131 0.96103 0.0:0.0:1.0:0.0 . 576;153 Q7Z6J4;Q7Z6J4-2 FGD2_HUMAN;. M 576;204 ENSP00000274963:V576M ENSP00000274963:V576M V + 1 0 FGD2 37103303 1.000000 0.71417 0.822000 0.32727 0.247000 0.25773 7.171000 0.77595 2.756000 0.94617 0.655000 0.94253 GTG FGD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040398.2 + ENST00000274963.8 Missense_Mutation SNP PCPG-TCGA-W2-A7H5-Normal-SM-5EMLL MDK 4192 broad.mit.edu 37 11 46404253 46404253 + Missense_Mutation SNP C C A TCGA-W2-A7H5-01B-11D-A35I-08 TCGA-W2-A7H5-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 906c1c9f-7beb-4389-a3d4-56025e606b9f 501494b0-58f4-47d0-a5f3-98c2ffdbefee g.chr11:46404253C>A ENST00000405308.2 + 4.0 790 c.361C>A c.(361-363)Cgc>Agc p.R121S MDK_ENST00000533283.1_3'UTR|MDK_ENST00000395566.4_Missense_Mutation_p.R121S|MDK_ENST00000359803.3_Missense_Mutation_p.R121S|MDK_ENST00000407067.1_Missense_Mutation_p.R121S|MDK_ENST00000395565.1_Missense_Mutation_p.R121S|MDK_ENST00000395569.4_Missense_Mutation_p.R65S NM_001270550.1 NP_001257479.1 P21741 MK_HUMAN midkine (neurite growth-promoting factor 2) 121.0 adrenal gland development (GO:0030325)|behavioral fear response (GO:0001662)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cerebellar granular layer development (GO:0021681)|cerebral cortex development (GO:0021987)|defecation (GO:0030421)|dentate gyrus development (GO:0021542)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of behavior (GO:0050795)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to wounding (GO:0009611)|short-term memory (GO:0007614)|signal transduction (GO:0007165) extracellular region (GO:0005576) growth factor activity (GO:0008083)|heparin binding (GO:0008201) lung(1) 1.0 GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14) GGAGACCATCCGCGTCACCAA 0.652 0 58.0 43.0 48.0 11 46404253.0 2201.0 4298.0 6499.0 SO:0001583 missense CCDS7919.1, CCDS59226.1 11p11.2 2008-07-18 ENSG00000110492 ENSG00000110492 4192.0 4192.0 6972.0 protein-coding gene gene with protein product 162096 NEGF2 8406506 Standard NM_001012334 NM_002391 Approved MK, FLJ27379 uc001nco.4 P21741 OTTHUMG00000150315 ENST00000405308.2:c.361C>A 11.__UNKNOWN__:g.46404253C>A ENSP00000385451:p.Arg121Ser Q2LEK4|Q9UCC7 __UNKNOWN__ CCDS7919.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 10.48|10.48 1.362013|1.362013 0.24684|0.24684 .|. .|. ENSG00000110492|ENSG00000110492 ENST00000405098|ENST00000405308;ENST00000405994;ENST00000359803;ENST00000533952;ENST00000395569;ENST00000395566;ENST00000407067;ENST00000395565 .|. .|. .|. 4.6|4.6 4.6|4.6 0.57074|0.57074 .|Midkine heparin-binding growth factor, C-terminal (2);Midkine heparin-binding growth factor, disulphide-rich domain (1); .|. .|. .|. .|. T|T 0.12220|0.12220 0.0297|0.0297 N|N 0.03115|0.03115 -0.41|-0.41 0.19300|0.19300 N|N 0.99997|0.99997 .|B;P;B .|0.41597 .|0.182;0.756;0.058 .|B;B;B .|0.39904 .|0.098;0.313;0.098 T|T 0.04991|0.04991 -1.0913|-1.0913 6|8 0.87932|0.08381 D|T 0|0.77 .|. 7.7982|7.7982 0.29160|0.29160 0.0:0.7384:0.1675:0.0941|0.0:0.7384:0.1675:0.0941 .|. .|65;121;121 .|Q2LEK4;E9PLM6;P21741 .|.;.;MK_HUMAN Q|S 39|121;121;121;121;65;121;121;121 .|. ENSP00000385946:P39Q|ENSP00000352852:R121S P|R +|+ 2|1 0|0 MDK|MDK 46360829|46360829 0.001000|0.001000 0.12720|0.12720 0.991000|0.991000 0.47740|0.47740 0.880000|0.880000 0.50808|0.50808 0.910000|0.910000 0.28571|0.28571 2.556000|2.556000 0.86216|0.86216 0.650000|0.650000 0.86243|0.86243 CCG|CGC MDK-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317546.2 + ENST00000405308.2 Missense_Mutation SNP PCPG-TCGA-W2-A7H5-Normal-SM-5EMLL DNAH8 1769 broad.mit.edu 37 6 38840747 38840747 + Missense_Mutation SNP G G A TCGA-W2-A7H5-01B-11D-A35I-08 TCGA-W2-A7H5-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 906c1c9f-7beb-4389-a3d4-56025e606b9f 501494b0-58f4-47d0-a5f3-98c2ffdbefee g.chr6:38840747G>A ENST00000359357.3 + 49.0 6906 c.6652G>A c.(6652-6654)Gtt>Att p.V2218I DNAH8_ENST00000449981.2_Missense_Mutation_p.V2435I|DNAH8_ENST00000441566.1_Missense_Mutation_p.V2182I Q96JB1 DYH8_HUMAN dynein, axonemal, heavy chain 8 2218.0 AAA 2. {ECO:0000250}. cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) p.V2218I(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) 260.0 CTTAAATTCCGTTTTGGATGA 0.383 2 Substitution - Missense(2) kidney(2) 85.0 86.0 86.0 6 38840747.0 2203.0 4300.0 6503.0 SO:0001583 missense Z83806 CCDS75447.1 6p21.2 2012-04-19 2006-09-04 ENSG00000124721 ENSG00000124721 1769.0 1769.0 """Axonemal dyneins""" 2952.0 protein-coding gene gene with protein product 603337 """dynein, axonemal, heavy polypeptide 8""" 9373155 Standard NM_001206927 NM_001206927 Approved hdhc9 uc021yzh.1 Q96JB1 OTTHUMG00000016253 ENST00000359357.3:c.6652G>A 6.__UNKNOWN__:g.38840747G>A ENSP00000352312:p.Val2218Ile O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4 __UNKNOWN__ . . . . . . . . . . G 34 5.314433 0.95655 . . ENSG00000124721 ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566 D;D;D 0.94092 -3.35;-3.35;-3.35 5.78 5.78 0.91487 ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1); 0.000000 0.85682 D 0.000000 D 0.98005 0.9343 H 0.96365 3.81 0.80722 D 1 D 0.89917 1.0 D 0.81914 0.995 D 0.98628 1.0670 10 0.87932 D 0 . 20.0114 0.97452 0.0:0.0:1.0:0.0 . 2218 Q96JB1 DYH8_HUMAN I 2423;2423;2218;2182 ENSP00000333363:V2423I;ENSP00000352312:V2218I;ENSP00000402294:V2182I ENSP00000333363:V2423I V + 1 0 DNAH8 38948725 1.000000 0.71417 0.999000 0.59377 0.945000 0.59286 9.843000 0.99491 2.745000 0.94114 0.655000 0.94253 GTT DNAH8-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000043574.1 + ENST00000359357.3 Missense_Mutation SNP PCPG-TCGA-W2-A7H5-Normal-SM-5EMLL ALMS1 7840 broad.mit.edu 37 2 73675529 73675529 + Silent SNP A A G TCGA-W2-A7H5-01B-11D-A35I-08 TCGA-W2-A7H5-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 906c1c9f-7beb-4389-a3d4-56025e606b9f 501494b0-58f4-47d0-a5f3-98c2ffdbefee g.chr2:73675529A>G ENST00000264448.6 + 8.0 1983 c.1872A>G c.(1870-1872)agA>agG p.R624R ALMS1_ENST00000377715.1_Silent_p.R624R|ALMS1_ENST00000409009.1_Silent_p.R582R NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 624.0 34 X 47 AA approximate tandem repeat. endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492) centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829) 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) 147.0 ACTCACATAGAGAGAAGCCTG 0.468 0 113.0 113.0 113.0 2 73675529.0 1864.0 4095.0 5959.0 SO:0001819 synonymous_variant AB002326 CCDS42697.1 2p13.1 2014-09-17 ENSG00000116127 ENSG00000116127 7840.0 7840.0 428.0 protein-coding gene gene with protein product 606844 9063741 Standard NM_015120 NM_015120 Approved KIAA0328 uc002sje.1 Q8TCU4 OTTHUMG00000152812 ENST00000264448.6:c.1872A>G 2.__UNKNOWN__:g.73675529A>G Q53S05|Q580Q8|Q86VP9|Q9Y4G4 __UNKNOWN__ CCDS42697.1 ALMS1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000327776.1 + ENST00000264448.6 Silent SNP PCPG-TCGA-W2-A7H5-Normal-SM-5EMLL SLC6A9 6536 broad.mit.edu 37 1 44474156 44474156 + Silent SNP C C T TCGA-W2-A7H5-01B-11D-A35I-08 TCGA-W2-A7H5-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 906c1c9f-7beb-4389-a3d4-56025e606b9f 501494b0-58f4-47d0-a5f3-98c2ffdbefee g.chr1:44474156C>T ENST00000372307.3 - 4.0 591 c.264G>A c.(262-264)acG>acA p.T88T SLC6A9_ENST00000357730.2_Silent_p.T172T|SLC6A9_ENST00000372310.3_Silent_p.T153T|SLC6A9_ENST00000537678.1_Silent_p.T88T|SLC6A9_ENST00000475075.2_Silent_p.T42T|SLC6A9_ENST00000360584.2_Silent_p.T226T|SLC6A9_ENST00000372306.3_Silent_p.T153T P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 226.0 transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328) endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22.0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CGCAGTCATGCGTGTTCCAGG 0.592 0 145.0 123.0 130.0 1 44474156.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant S70609 CCDS30695.1, CCDS41316.1, CCDS41317.1 1p33 2013-05-22 ENSG00000196517 ENSG00000196517 6536.0 6536.0 """Solute carriers""" 11056.0 protein-coding gene gene with protein product 601019 8183239, 7587377 Standard NM_201649 NM_006934 Approved GLYT1 uc001cll.4 P48067 OTTHUMG00000008294 ENST00000372307.3:c.264G>A 1.__UNKNOWN__:g.44474156C>T A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0 __UNKNOWN__ SLC6A9-008 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000386657.1 - ENST00000372307.3 Silent SNP PCPG-TCGA-W2-A7H5-Normal-SM-5EMLL TM2D3 80213 ucsc.edu 37 15 102182806 102182806 + Missense_Mutation SNP C C T TCGA-W2-A7H5-01B-11D-A35I-08 TCGA-W2-A7H5-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 906c1c9f-7beb-4389-a3d4-56025e606b9f 501494b0-58f4-47d0-a5f3-98c2ffdbefee g.chr15:102182806C>T ENST00000347970.3 - 5.0 571 c.542G>A c.(541-543)gGc>gAc p.G181D TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000561373.1_Missense_Mutation_p.G142D|TM2D3_ENST00000559107.1_Intron|TM2D3_ENST00000333202.3_Missense_Mutation_p.G207D NM_025141.3 NP_079417.2 Q9BRN9 TM2D3_HUMAN TM2 domain containing 3 207.0 integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1) 10.0 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCGCCACTGGCCCAGGTAGAA 0.587 0 52.0 50.0 50.0 15 102182806.0 2203.0 4300.0 6503.0 SO:0001583 missense AK094955 CCDS10392.1, CCDS10393.1 15q26.3 2014-02-12 ENSG00000184277 ENSG00000184277 80213.0 80213.0 24128.0 protein-coding gene gene with protein product 610014 11278849 Standard NM_078474 XM_005254980 Approved BLP2, FLJ22604 uc002bxi.3 Q9BRN9 OTTHUMG00000149872 ENST00000347970.3:c.542G>A 15.__UNKNOWN__:g.102182806C>T ENSP00000327584:p.Gly181Asp B2RDK9|Q9H046|Q9H651 __UNKNOWN__ CCDS10392.1 . . . . . . . . . . C 34 5.317324 0.95682 . . ENSG00000184277 ENST00000347970;ENST00000333202 . . . 5.34 5.34 0.76211 TM2 (1); 0.000000 0.85682 D 0.000000 D 0.86481 0.5943 M 0.93678 3.445 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 0.997;1.0 D 0.89710 0.3911 9 0.87932 D 0 -34.2113 16.8956 0.86099 0.0:1.0:0.0:0.0 . 181;207 Q9BRN9-2;Q9BRN9 .;TM2D3_HUMAN D 181;207 . ENSP00000330433:G207D G - 2 0 TM2D3 100000329 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.546000 0.82137 2.660000 0.90430 0.643000 0.83706 GGC TM2D3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313622.2 - ENST00000347970.3 Missense_Mutation SNP PCPG-TCGA-W2-A7H5-Normal-SM-5EMLL MIF4GD 57409 broad.mit.edu 37 17 73266262 73266262 + Silent SNP A A G TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr17:73266262A>G ENST00000578305.1 - 2.0 121 c.15T>C c.(13-15)agT>agC p.S5S MIF4GD_ENST00000579297.1_Silent_p.S5S|MIF4GD_ENST00000577542.1_Silent_p.S5S|MIF4GD_ENST00000325102.8_Silent_p.S5S|MIF4GD_ENST00000580571.1_Silent_p.S5S|MIF4GD_ENST00000579119.1_Silent_p.S5S|MIF4GD_ENST00000245551.5_Silent_p.S5S A9UHW6 MI4GD_HUMAN MIF4G domain containing 5.0 MIF4G. regulation of translation (GO:0006417) cytoplasm (GO:0005737)|nucleolus (GO:0005730) protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723) breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 10.0 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) ACTCCTCTCTACTGGGCTCCC 0.587 0 133.0 133.0 133.0 17 73266262.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CR605810 CCDS11719.1, CCDS56044.1, CCDS58598.1 17q25.1 2005-12-15 2005-12-15 57409.0 57409.0 24030.0 protein-coding gene gene with protein product 612072 MIFD Standard NM_020679 NM_001242498 Approved AD023, MGC45027 uc002jnq.3 A9UHW6 ENST00000578305.1:c.15T>C 17.__UNKNOWN__:g.73266262A>G B4DUM7|Q8N4Q5|Q9HBL5 __UNKNOWN__ MIF4GD-014 PUTATIVE not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000446677.1 - ENST00000578305.1 Silent SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO SLC2A4 6517 broad.mit.edu 37 17 7189833 7189833 + Missense_Mutation SNP G G A TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr17:7189833G>A ENST00000317370.8 + 11.0 1683 c.1415G>A c.(1414-1416)cGa>cAa p.R472Q NM_001042.2 NP_001033.1 P14672 GTR4_HUMAN solute carrier family 2 (facilitated glucose transporter), member 4 472.0 amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506) D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355) breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17.0 CCTGAAACTCGAGGCCGGACG 0.537 0 282.0 283.0 283.0 17 7189833.0 2203.0 4300.0 6503.0 SO:0001583 missense M20747 CCDS11097.1 17p13 2013-05-22 ENSG00000181856 ENSG00000181856 6517.0 6517.0 """Solute carriers""" 11009.0 protein-coding gene gene with protein product 138190 GLUT4 Standard NM_001042 Approved uc002gfp.3 P14672 OTTHUMG00000102181 ENST00000317370.8:c.1415G>A 17.__UNKNOWN__:g.7189833G>A ENSP00000320935:p.Arg472Gln Q05BQ3|Q14CX2 __UNKNOWN__ CCDS11097.1 . . . . . . . . . . G 27.2 4.813439 0.90790 . . ENSG00000181856 ENST00000317370 T 0.74106 -0.81 5.11 5.11 0.69529 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.000000 0.64402 D 0.000001 T 0.78742 0.4331 M 0.70903 2.155 0.80722 D 1 P 0.52692 0.955 P 0.47786 0.557 T 0.81911 -0.0716 10 0.72032 D 0.01 . 16.4157 0.83732 0.0:0.0:1.0:0.0 . 472 P14672 GTR4_HUMAN Q 472 ENSP00000320935:R472Q ENSP00000320935:R472Q R + 2 0 SLC2A4 7130557 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 4.241000 0.58707 2.826000 0.97356 0.655000 0.94253 CGA SLC2A4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000220031.3 + ENST00000317370.8 Missense_Mutation SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO KDM4B 23030 broad.mit.edu 37 19 5144146 5144146 + Missense_Mutation SNP A A G TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr19:5144146A>G ENST00000159111.4 + 19.0 2937 c.2719A>G c.(2719-2721)Aag>Gag p.K907E KDM4B_ENST00000536461.1_Missense_Mutation_p.K941E NM_015015.2 NP_055830 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 907.0 chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634) dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270) breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32.0 CCTCAAGCACAAGTCGGGGGG 0.711 0 44.0 47.0 46.0 19 5144146.0 2203.0 4299.0 6502.0 SO:0001583 missense AB020683 CCDS12138.1 19p13.3 2013-01-23 2009-04-06 2009-04-06 ENSG00000127663 23030.0 23030.0 """Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing""" 29136.0 protein-coding gene gene with protein product """tudor domain containing 14B""" 609765 """jumonji domain containing 2B""" JMJD2B 10048485, 15138608 Standard NM_015015 NM_015015 Approved KIAA0876, TDRD14B uc002mbq.4 O94953 ENST00000159111.4:c.2719A>G 19.__UNKNOWN__:g.5144146A>G ENSP00000159111:p.Lys907Glu B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40 __UNKNOWN__ CCDS12138.1 . . . . . . . . . . A 15.61 2.884118 0.51908 . . ENSG00000127663 ENST00000159111;ENST00000536461 T;T 0.18960 2.18;2.18 4.28 2.04 0.26737 Zinc finger, PHD-type (1); 0.384971 0.17999 N 0.154948 T 0.14056 0.0340 L 0.36672 1.1 0.26372 N 0.97687 B;P 0.43788 0.122;0.817 B;B 0.38500 0.059;0.275 T 0.10965 -1.0607 10 0.42905 T 0.14 -11.8612 6.2208 0.20681 0.6133:0.3051:0.0816:0.0 . 941;907 F5GX28;O94953 .;KDM4B_HUMAN E 907;941 ENSP00000159111:K907E;ENSP00000440495:K941E ENSP00000159111:K907E K + 1 0 KDM4B 5095146 1.000000 0.71417 0.570000 0.28473 0.560000 0.35617 3.929000 0.56514 0.107000 0.17824 0.459000 0.35465 AAG KDM4B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000450558.1 + ENST00000159111.4 Missense_Mutation SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO GPC5 2262 broad.mit.edu 37 13 92346010 92346010 + Silent SNP T T C TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr13:92346010T>C ENST00000377067.3 + 3.0 1267 c.895T>C c.(895-897)Ttg>Ctg p.L299L NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 299.0 carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69.0 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TATCCGGTCGTTGGAAGAACT 0.502 0 138.0 126.0 130.0 13 92346010.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF001462 CCDS9468.1 13q32 2011-08-01 ENSG00000179399 ENSG00000179399 2262.0 2262.0 """Proteoglycans / Cell Surface : Glypicans""" 4453.0 protein-coding gene gene with protein product """glypican proteoglycan 5""" 602446 9070915, 20304703, 19556317, 15057823 Standard NM_004466 NM_004466 Approved uc010tif.2 P78333 OTTHUMG00000017200 ENST00000377067.3:c.895T>C 13.__UNKNOWN__:g.92346010T>C B2R726|O60436|Q9BX27 __UNKNOWN__ CCDS9468.1 GPC5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045454.1 + ENST00000377067.3 Silent SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO COL6A6 131873 broad.mit.edu 37 3 130282279 130282279 + Silent SNP G G A TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr3:130282279G>A ENST00000358511.6 + 2.0 463 c.432G>A c.(430-432)gaG>gaA p.E144E COL6A6_ENST00000453409.2_Silent_p.E144E NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 144.0 Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}. cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) 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) 134.0 CTGAGTCTGAGGATAATGTGG 0.498 0 48.0 49.0 48.0 3 130282279.0 1904.0 4123.0 6027.0 SO:0001819 synonymous_variant AL713792 CCDS46911.1 3q22.1 2013-01-16 ENSG00000206384 ENSG00000206384 131873.0 131873.0 """Collagens""" 27023.0 protein-coding gene gene with protein product Standard NM_001102608 NM_001102608 Approved uc010htl.3 A6NMZ7 OTTHUMG00000159653 ENST00000358511.6:c.432G>A 3.__UNKNOWN__:g.130282279G>A A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0 __UNKNOWN__ CCDS46911.1 COL6A6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000356705.5 + ENST00000358511.6 Silent SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO PHF17 0 broad.mit.edu 37 4 129778604 129778604 + Missense_Mutation SNP A A G TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr4:129778604A>G ENST00000226319.6 + 8.0 1256 c.976A>G c.(976-978)Ata>Gta p.I326V PHF17_ENST00000413543.2_Missense_Mutation_p.I326V|PHF17_ENST00000452328.2_Missense_Mutation_p.I314V|PHF17_ENST00000511647.1_Missense_Mutation_p.I326V|PHF17_ENST00000512960.1_Missense_Mutation_p.I326V NM_199320.2 NP_955352.1 NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29.0 TGGGGCCTCTATACAGGTAAT 0.537 0 151.0 157.0 155.0 4 129778604.0 2203.0 4300.0 6503.0 SO:0001583 missense ENST00000226319.6:c.976A>G 4.__UNKNOWN__:g.129778604A>G ENSP00000226319:p.Ile326Val __UNKNOWN__ CCDS34062.1 . . . . . . . . . . A 16.53 3.147745 0.57151 . . ENSG00000077684 ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543 T;T;T;T;T 0.64991 -0.13;-0.13;-0.13;-0.13;-0.13 4.47 4.47 0.54385 Zinc finger, PHD-type (1); 0.094910 0.64402 D 0.000001 T 0.68165 0.2971 L 0.46670 1.46 0.80722 D 1 B;P;B 0.38250 0.389;0.624;0.234 P;P;B 0.52758 0.506;0.708;0.296 T 0.65857 -0.6066 9 . . . . 14.2062 0.65737 1.0:0.0:0.0:0.0 . 314;326;326 Q6IE81-2;Q6IE81;Q6IE81-3 .;JADE1_HUMAN;. V 326;326;314;326;326;326 ENSP00000226319:I326V;ENSP00000423737:I326V;ENSP00000388015:I314V;ENSP00000425730:I326V;ENSP00000404211:I326V . I + 1 0 PHF17 129998054 1.000000 0.71417 1.000000 0.80357 0.756000 0.42949 8.329000 0.90017 2.002000 0.58637 0.533000 0.62120 ATA PHF17-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000364280.1 + ENST00000226319.6 Missense_Mutation SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO GPR128 84873 broad.mit.edu 37 3 100362211 100362211 + Missense_Mutation SNP C C T TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr3:100362211C>T ENST00000475887.1 + 3.0 330 GPR128_ENST00000273352.3_Missense_Mutation_p.A267V Q96K78 GP128_HUMAN G protein-coupled receptor 128 G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) 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) 56.0 TCAGAAAATGCGGTGGGGCCT 0.403 Pancreas(87;185 1975 7223 18722) 0 151.0 154.0 153.0 3 100362211.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AK027360 CCDS2938.1 3q12.3 2014-08-08 ENSG00000144820 ENSG00000144820 84873.0 84873.0 """-"", ""GPCR / Class B : Orphans""" 19241.0 protein-coding gene gene with protein product 612307 Standard NM_032787 Approved FLJ14454 uc003duc.3 Q96K78 OTTHUMG00000159083 ENST00000475887.1:c.62-2578C>T 3.__UNKNOWN__:g.100362211C>T Q14D94|Q86SQ2 __UNKNOWN__ . . . . . . . . . . C 9.010 0.982339 0.18889 . . ENSG00000144820 ENST00000273352 T 0.39229 1.09 3.93 -0.181 0.13291 . 1.886950 0.02509 N 0.091316 T 0.17152 0.0412 N 0.08118 0 0.09310 N 1 B 0.30211 0.273 B 0.14578 0.011 T 0.06180 -1.0841 10 0.11182 T 0.66 . 1.0452 0.01568 0.1829:0.4275:0.1782:0.2115 . 267 Q96K78 GP128_HUMAN V 267 ENSP00000273352:A267V ENSP00000273352:A267V A + 2 0 GPR128 101844901 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.359000 0.07632 -0.154000 0.11118 -0.143000 0.13931 GCG GPR128-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000353237.1 + ENST00000475887.1 Intron SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO GON4L 54856 broad.mit.edu 37 1 155723052 155723052 + Nonsense_Mutation SNP C C A TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr1:155723052C>A ENST00000437809.1 - 29.0 5907 c.5785G>T c.(5785-5787)Gag>Tag p.E1929* GON4L_ENST00000271883.5_Nonsense_Mutation_p.E1929*|GON4L_ENST00000368331.1_Nonsense_Mutation_p.E1929* NM_001282856.1 NP_001269785.1 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1929.0 regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677) NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45.0 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TGGGTGGCCTCAGTGCTCTCC 0.587 0 94.0 104.0 101.0 1 155723052.0 2073.0 4205.0 6278.0 SO:0001587 stop_gained AB046826 CCDS1121.1, CCDS44242.1, CCDS60296.1 1q22 2013-10-31 2006-11-08 2006-02-16 ENSG00000116580 ENSG00000116580 54856.0 54856.0 25973.0 protein-coding gene gene with protein product 610393 """gon-4 homolog (C.elegans)""" GON4 16545939, 21454521 Standard NM_032292 XM_005245283 Approved FLJ20203, GON-4 uc001fly.1 Q3T8J9 OTTHUMG00000014106 ENST00000437809.1:c.5785G>T 1.__UNKNOWN__:g.155723052C>A ENSP00000396117:p.Glu1929* B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6 __UNKNOWN__ CCDS44242.1 . . . . . . . . . . C 45 11.653717 0.99587 . . ENSG00000116580 ENST00000437809;ENST00000368331;ENST00000271883 . . . 4.66 4.66 0.58398 . 0.000000 0.64402 D 0.000002 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.54805 T 0.06 . 15.8784 0.79182 0.0:1.0:0.0:0.0 . . . . X 1929 . ENSP00000271883:E1929X E - 1 0 GON4L 153989676 0.689000 0.27690 0.538000 0.28064 0.358000 0.29455 4.216000 0.58540 2.579000 0.87056 0.555000 0.69702 GAG GON4L-019 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000340937.1 - ENST00000437809.1 Nonsense_Mutation SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO ALDH7A1 501 broad.mit.edu 37 5 125903982 125903982 + Silent SNP T T C TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr5:125903982T>C ENST00000409134.3 - 9.0 1059 c.840A>G c.(838-840)aaA>aaG p.K280K ALDH7A1_ENST00000447989.2_Silent_p.K307K|ALDH7A1_ENST00000553117.1_Silent_p.K280K|ALDH7A1_ENST00000413020.1_5'UTR NM_001182.4|NM_001201377.1 NP_001173.2|NP_001188306.1 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 280.0 cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634) aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043) endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16.0 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) GGCCCACCTGTTTTCCCACCT 0.488 0 173.0 158.0 163.0 5 125903982.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant S74728 CCDS4137.2, CCDS56380.1 5q31 2013-06-03 ENSG00000164904 ENSG00000164904 501.0 501.0 1.2.1.31 """Aldehyde dehydrogenases""" 877.0 protein-coding gene gene with protein product """antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase""" 107323 ATQ1 9417906 Standard NM_001182 NM_001182 Approved EPD, PDE uc003ktx.3 P49419 OTTHUMG00000128942 ENST00000409134.3:c.840A>G 5.__UNKNOWN__:g.125903982T>C B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4 __UNKNOWN__ CCDS4137.2 ALDH7A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250921.2 - ENST00000409134.3 Silent SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO MLLT6 4302 broad.mit.edu 37 17 36871916 36871916 + Missense_Mutation SNP A A T TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr17:36871916A>T ENST00000325718.7 + 9.0 962 c.871A>T c.(871-873)Acc>Tcc p.T291S CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 291.0 regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634) zinc ion binding (GO:0008270) breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8.0 Breast(7;4.43e-21) CACGCAGGAGACCTCTGAGAG 0.562 T MLL AL Dom yes 17 17q21 4302.0 """myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)""" L 0 106.0 96.0 99.0 17 36871916.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS11327.1 17q21 2014-04-10 2001-11-28 ENSG00000108292 ENSG00000275023 4302.0 4302.0 """Zinc fingers, PHD-type""" 7138.0 protein-coding gene gene with protein product """Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog""" 600328 """myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6""" 8058765 Standard NM_005937 NM_005937 Approved AF17, FLJ23480 uc002hqi.4 P55198 OTTHUMG00000188498 ENST00000325718.7:c.871A>T 17.__UNKNOWN__:g.36871916A>T ENSP00000316426:p.Thr291Ser Q59F28|Q96IU3|Q9H5F6|Q9UF49 __UNKNOWN__ CCDS11327.1 . . . . . . . . . . A 14.69 2.610474 0.46527 . . ENSG00000108292 ENST00000325718 T 0.80909 -1.43 5.43 1.8 0.24995 . 1.105820 0.06629 N 0.758858 T 0.58047 0.2095 N 0.05534 -0.03 0.26995 N 0.965047 B 0.26002 0.139 B 0.21917 0.037 T 0.50329 -0.8841 10 0.06365 T 0.9 . 6.5452 0.22402 0.5946:0.3188:0.0866:0.0 . 291 P55198 AF17_HUMAN S 291 ENSP00000316426:T291S ENSP00000316426:T291S T + 1 0 MLLT6 34125442 1.000000 0.71417 1.000000 0.80357 0.952000 0.60782 1.146000 0.31589 0.895000 0.36342 -0.461000 0.05368 ACC MLLT6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256799.1 + ENST00000325718.7 Missense_Mutation SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO NOA1 84273 broad.mit.edu 37 4 57832876 57832876 + Silent SNP G G A TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr4:57832876G>A ENST00000264230.4 - 5.0 2911 c.1674C>T c.(1672-1674)gtC>gtT p.V558V NM_032313.2 NP_115689.1 Q8NC60 NOA1_HUMAN nitric oxide associated 1 558.0 apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254) mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822) TGGAAGCCACGACTGTAAACC 0.453 0 158.0 137.0 144.0 4 57832876.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK098215 CCDS3510.1 4q12 2013-05-24 2011-10-19 2011-10-19 ENSG00000084092 ENSG00000084092 84273.0 84273.0 28473.0 protein-coding gene gene with protein product """nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)""" 614919 """chromosome 4 open reading frame 14""" C4orf14 16380119, 2118999, 21771794, 22447445 Standard NM_032313 NM_032313 Approved MGC3232, hAtNOS1, hNOA1, MTG3 uc003hck.3 Q8NC60 OTTHUMG00000128773 ENST00000264230.4:c.1674C>T 4.__UNKNOWN__:g.57832876G>A Q8N7L6|Q9BSQ9 __UNKNOWN__ CCDS3510.1 NOA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250694.2 - ENST00000264230.4 Silent SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO ATP6V1G3 127124 broad.mit.edu 37 1 198498248 198498248 + Missense_Mutation SNP A A G TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr1:198498248A>G ENST00000367382.1 - 2.0 230 c.146T>C c.(145-147)aTg>aCg p.M49T ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.M49T|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.M55T|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.M55T Q96LB4 VATG3_HUMAN ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 49.0 cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471) ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 7.0 ATCTCTCTGCATTCTGTACTG 0.313 0 151.0 144.0 147.0 1 198498248.0 2202.0 4298.0 6500.0 SO:0001583 missense AY039760 CCDS1395.1, CCDS1396.1 1q32.2 2010-04-21 2006-01-13 ENSG00000151418 ENSG00000151418 127124.0 127124.0 """ATPases / V-type""" 18265.0 protein-coding gene gene with protein product """ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3""" 9442887 Standard NM_133326 NM_133262 Approved ATP6G3, Vma10 uc001gup.3 Q96LB4 OTTHUMG00000035661 ENST00000367382.1:c.146T>C 1.__UNKNOWN__:g.198498248A>G ENSP00000356352:p.Met49Thr Q495K2|Q495K4|Q5T9L6 __UNKNOWN__ CCDS1395.1 . . . . . . . . . . A 12.91 2.080465 0.36662 . . ENSG00000151418 ENST00000367382;ENST00000367381;ENST00000281087;ENST00000489986 T;T;T;T 0.40225 1.04;1.04;1.04;1.04 5.19 5.19 0.71726 . 0.156786 0.64402 D 0.000017 T 0.48003 0.1476 L 0.58302 1.8 0.32650 N 0.519472 P;P 0.51933 0.949;0.891 P;P 0.51701 0.677;0.598 T 0.54227 -0.8325 10 0.12103 T 0.63 -18.154 14.5254 0.67884 1.0:0.0:0.0:0.0 . 55;49 Q96LB4-4;Q96LB4 .;VATG3_HUMAN T 49;55;49;55 ENSP00000356352:M49T;ENSP00000356351:M55T;ENSP00000281087:M49T;ENSP00000417171:M55T ENSP00000281087:M49T M - 2 0 ATP6V1G3 196764871 1.000000 0.71417 0.935000 0.37517 0.859000 0.49053 7.077000 0.76814 2.087000 0.62958 0.533000 0.62120 ATG ATP6V1G3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086559.1 - ENST00000367382.1 Missense_Mutation SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO CDC20B 166979 broad.mit.edu 37 5 54420759 54420759 + Missense_Mutation SNP A A G TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr5:54420759A>G ENST00000381375.2 - 9.0 1232 c.1087T>C c.(1087-1089)Tgg>Cgg p.W363R CDC20B_ENST00000296733.1_Missense_Mutation_p.W363R|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Missense_Mutation_p.W363R Q86Y33 CD20B_HUMAN cell division cycle 20B 363.0 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19.0 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) TCCGGTGACCACTTCAGAGCA 0.572 0 137.0 119.0 125.0 5 54420759.0 2203.0 4300.0 6503.0 SO:0001583 missense AB086378 CCDS3966.1, CCDS47207.1, CCDS54852.1 5q11.2 2013-01-17 2013-01-17 ENSG00000164287 ENSG00000164287 166979.0 166979.0 """WD repeat domain containing""" 24222.0 protein-coding gene gene with protein product """CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)""" Standard NM_152623 NM_152623 Approved FLJ37927 uc003jpo.2 Q86Y33 OTTHUMG00000131185 ENST00000381375.2:c.1087T>C 5.__UNKNOWN__:g.54420759A>G ENSP00000370781:p.Trp363Arg B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56 __UNKNOWN__ CCDS54852.1 . . . . . . . . . . A 22.0 4.229660 0.79688 . . ENSG00000164287 ENST00000296733;ENST00000381375;ENST00000322374 T;T;T 0.66815 -0.23;-0.23;-0.23 4.66 4.66 0.58398 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.000000 0.39834 N 0.001254 D 0.85575 0.5728 M 0.93550 3.43 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 0.999;1.0;0.999 D 0.89426 0.3713 10 0.87932 D 0 -26.1302 13.9319 0.64001 1.0:0.0:0.0:0.0 . 363;363;363 Q86Y33-3;Q86Y33;Q86Y33-2 .;CD20B_HUMAN;. R 363 ENSP00000296733:W363R;ENSP00000370781:W363R;ENSP00000315720:W363R ENSP00000296733:W363R W - 1 0 CDC20B 54456516 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.259000 0.78381 1.947000 0.56498 0.528000 0.53228 TGG CDC20B-004 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000369715.1 - ENST00000381375.2 Missense_Mutation SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO LPL 4023 broad.mit.edu 37 8 19811698 19811698 + Silent SNP A A G TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr8:19811698A>G ENST00000311322.8 + 5.0 1079 c.609A>G c.(607-609)gcA>gcG p.A203A NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 203.0 A -> T (in LPL deficiency; Bethesda; loss of activity and abnormal heparin binding). {ECO:0000269|PubMed:2110364}. chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361) apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36.0 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) AST-120(DB05269)|Tyloxapol(DB06439) CTGATGATGCAGATTTTGTAG 0.478 0 136.0 132.0 134.0 8 19811698.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS6012.1 8p22 2012-10-02 ENSG00000175445 ENSG00000175445 4023.0 4023.0 3.1.1.34 6677.0 protein-coding gene gene with protein product 609708 LIPD Standard NM_000237 Approved uc003wzk.4 P06858 OTTHUMG00000036645 ENST00000311322.8:c.609A>G 8.__UNKNOWN__:g.19811698A>G B2R5T9|Q16282|Q16283|Q96FC4 __UNKNOWN__ CCDS6012.1 LPL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000089113.3 + ENST00000311322.8 Silent SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO ZNF776 284309 broad.mit.edu 37 19 58265270 58265270 + Missense_Mutation SNP C C T TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr19:58265270C>T ENST00000317178.5 + 3.0 1035 c.772C>T c.(772-774)Cgc>Tgc p.R258C NM_173632.3 NP_775903.3 Q68DI1 ZN776_HUMAN zinc finger protein 776 258.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31.0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) TCAGGGAGTTCGCACTGGAAA 0.423 0 76.0 73.0 74.0 19 58265270.0 2203.0 4300.0 6503.0 SO:0001583 missense AK095607 CCDS12962.2 19q13.43 2013-01-08 ENSG00000152443 ENSG00000152443 284309.0 284309.0 """Zinc fingers, C2H2-type"", ""-""" 26765.0 protein-coding gene gene with protein product Standard NM_173632 NM_173632 Approved FLJ38288 Q68DI1 OTTHUMG00000156943 ENST00000317178.5:c.772C>T 19.__UNKNOWN__:g.58265270C>T ENSP00000321812:p.Arg258Cys Q6ZS36|Q8N968 __UNKNOWN__ CCDS12962.2 . . . . . . . . . . C 12.73 2.024724 0.35701 . . ENSG00000152443 ENST00000317178 T 0.15256 2.44 1.79 1.79 0.24919 Zinc finger, C2H2 (1); . . . . T 0.08223 0.0205 N 0.20685 0.6 0.80722 D 1 B;P 0.38711 0.332;0.643 B;B 0.12837 0.008;0.008 T 0.27297 -1.0078 9 0.87932 D 0 . 10.5453 0.45056 0.0:1.0:0.0:0.0 . 258;258 Q68DI1;B4DSC6 ZN776_HUMAN;. C 258 ENSP00000321812:R258C ENSP00000321812:R258C R + 1 0 ZNF776 62957082 0.011000 0.17503 0.013000 0.15412 0.172000 0.22775 1.968000 0.40500 0.992000 0.38840 0.305000 0.20034 CGC ZNF776-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346722.2 + ENST00000317178.5 Missense_Mutation SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO TUBA8 51807 broad.mit.edu 37 22 18609712 18609712 + Missense_Mutation SNP G G T rs151102020 by1000genomes TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr22:18609712G>T ENST00000316027.6 + 4.0 1117 c.769G>T c.(769-771)Gtg>Ttg p.V257L TUBA8_ENST00000330423.3_Missense_Mutation_p.V323L NM_001193414.1 NP_001180343.1 Q9NY65 TBA8_HUMAN tubulin, alpha 8 323.0 microtubule-based process (GO:0007017)|protein polymerization (GO:0051258) cytoplasm (GO:0005737)|microtubule (GO:0005874) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14.0 CCGGGGCGACGTGGTGCCCAA 0.557 0 95.0 79.0 85.0 22 18609712.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ245922 CCDS13751.1, CCDS54495.1 22q11 2005-06-11 ENSG00000183785 ENSG00000183785 51807.0 51807.0 """Tubulins""" 12410.0 protein-coding gene gene with protein product 605742 TUBAL2 10772959, 10591208 Standard NM_018943 NM_001193414 Approved uc002znv.2 Q9NY65 OTTHUMG00000150097 ENST00000316027.6:c.769G>T 22.__UNKNOWN__:g.18609712G>T ENSP00000318575:p.Val257Leu B2RCX2|B3KPW9|B4DWG3|Q2M3N4 __UNKNOWN__ CCDS54495.1 . . . . . . . . . . . 19.95 3.922283 0.73213 . . ENSG00000183785 ENST00000316027;ENST00000330423;ENST00000416740 D;D;D 0.85411 -1.98;-1.98;-1.98 5.67 5.67 0.87782 Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1); 0.057042 0.64402 D 0.000001 D 0.93638 0.7968 M 0.87269 2.87 0.80722 D 1 D;D;P 0.89917 1.0;0.991;0.602 D;D;P 0.97110 1.0;0.959;0.751 D 0.94010 0.7283 10 0.87932 D 0 . 19.1191 0.93355 0.0:0.0:1.0:0.0 . 257;347;323 B3KPW9;C9J2C0;Q9NY65 .;.;TBA8_HUMAN L 257;323;347 ENSP00000318575:V257L;ENSP00000333326:V323L;ENSP00000412646:V347L ENSP00000318575:V257L V + 1 0 TUBA8 16989712 1.000000 0.71417 0.998000 0.56505 0.990000 0.78478 9.813000 0.99286 2.837000 0.97791 0.655000 0.94253 GTG TUBA8-002 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000316233.2 + ENST00000316027.6 Missense_Mutation SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO LTA4H 4048 broad.mit.edu 37 12 96422919 96422919 + Missense_Mutation SNP A A T TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr12:96422919A>T ENST00000228740.2 - 2.0 345 c.204T>A c.(202-204)aaT>aaA p.N68K LTA4H_ENST00000413268.2_Missense_Mutation_p.N44K|LTA4H_ENST00000552789.1_Missense_Mutation_p.N44K NM_000895.2 NP_000886.1 P09960 LKHA4_HUMAN leukotriene A4 hydrolase 68.0 arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1) 12.0 Captopril(DB01197) CTTCTTGTCCATTGATCACTA 0.318 0 183.0 172.0 175.0 12 96422919.0 2203.0 4300.0 6503.0 SO:0001583 missense BC032528 CCDS9059.1, CCDS58266.1, CCDS58267.1 12q22 2005-10-06 ENSG00000111144 4048.0 4048.0 3.3.2.6 6710.0 protein-coding gene gene with protein product 151570 7628486 Standard NM_000895 NM_000895 Approved uc001ten.2 P09960 OTTHUMG00000170355 ENST00000228740.2:c.204T>A 12.__UNKNOWN__:g.96422919A>T ENSP00000228740:p.Asn68Lys B4DNQ9|F8VV40|Q6IAT6|Q9UCT7 __UNKNOWN__ CCDS9059.1 . . . . . . . . . . A 13.55 2.271989 0.40194 . . ENSG00000111144 ENST00000228740;ENST00000552789;ENST00000413268 T;T;T 0.05786 3.39;3.39;3.39 5.55 1.74 0.24563 Peptidase M1, membrane alanine aminopeptidase, N-terminal (1); 0.091563 0.64402 D 0.000001 T 0.11707 0.0285 M 0.65975 2.015 0.54753 D 0.999989 P;P;P 0.45569 0.832;0.832;0.861 P;B;B 0.48227 0.571;0.344;0.3 T 0.02526 -1.1146 10 0.40728 T 0.16 -20.2031 10.3131 0.43721 0.7403:0.0:0.2597:0.0 . 44;44;68 P09960-3;F8VV40;P09960 .;.;LKHA4_HUMAN K 68;44;44 ENSP00000228740:N68K;ENSP00000449958:N44K;ENSP00000395051:N44K ENSP00000228740:N68K N - 3 2 LTA4H 94947050 0.998000 0.40836 0.999000 0.59377 0.983000 0.72400 0.739000 0.26173 0.043000 0.15746 -0.411000 0.06167 AAT LTA4H-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000408655.1 - ENST00000228740.2 Missense_Mutation SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO CHD5 26038 broad.mit.edu 37 1 6202616 6202616 + Missense_Mutation SNP C C T TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr1:6202616C>T ENST00000262450.3 - 14.0 2192 c.2093G>A c.(2092-2094)gGc>gAc p.G698D CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 O00258 WRB_HUMAN chromodomain helicase DNA binding protein 5 0.0 tail-anchored membrane protein insertion into ER membrane (GO:0071816) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16.0 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) GTGCAGTGTGCCGCCTGTGGA 0.642 0 130.0 92.0 105.0 1 6202616.0 2203.0 4300.0 6503.0 SO:0001583 missense AF425231 CCDS57.1 1p36.3 2013-01-28 ENSG00000116254 ENSG00000116254 26038.0 26038.0 """Zinc fingers, PHD-type""" 16816.0 protein-coding gene gene with protein product 610771 11889561, 12592387 Standard NM_015557 NM_015557 Approved uc001amb.2 Q8TDI0 OTTHUMG00000000952 ENST00000262450.3:c.2093G>A 1.__UNKNOWN__:g.6202616C>T ENSP00000262450:p.Gly698Asp A8KAP8|A8MQ44|D3DSH9|O60740 __UNKNOWN__ CCDS57.1 . . . . . . . . . . C 21.5 4.154079 0.78114 . . ENSG00000116254 ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279 D 0.91631 -2.88 3.43 3.43 0.39272 DEAD-like helicase (1); 0.000000 0.64402 D 0.000001 D 0.95579 0.8563 M 0.76838 2.35 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 D 0.95956 0.8958 10 0.59425 D 0.04 -25.1359 15.3972 0.74805 0.0:1.0:0.0:0.0 . 698 Q8TDI0 CHD5_HUMAN D 698;214;106;106 ENSP00000262450:G698D ENSP00000262450:G698D G - 2 0 CHD5 6125203 1.000000 0.71417 0.989000 0.46669 0.756000 0.42949 7.554000 0.82212 1.895000 0.54865 0.561000 0.74099 GGC CHD5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000002823.2 - ENST00000262450.3 Missense_Mutation SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO DYRK2 8445 broad.mit.edu 37 12 68051587 68051587 + Silent SNP G G A TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr12:68051587G>A ENST00000344096.3 + 3.0 1313 c.900G>A c.(898-900)acG>acA p.T300T DYRK2_ENST00000393555.3_Silent_p.T227T NM_006482.2 NP_006473.2 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 300.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224) cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130) breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30.0 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) TCTGCATGACGTTTGAGCTGC 0.478 0 G , 1,4405 2.1+/-5.4 0,1,2202 158.0 152.0 154.0 681,900 -0.5 1.0 12 154.0 0,8600 0,0,4300 no coding-synonymous,coding-synonymous DYRK2 NM_003583.3,NM_006482.2 , 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 , 227/529,300/602 68051587.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant Y09216 CCDS8978.1, CCDS8979.1 12q15 2008-07-03 ENSG00000127334 8445.0 8445.0 3093.0 protein-coding gene gene with protein product 603496 9748265 Standard NM_003583 Approved uc001str.4 Q92630 ENST00000344096.3:c.900G>A 12.__UNKNOWN__:g.68051587G>A B2R9V9|Q9BRB5 __UNKNOWN__ CCDS8978.1 DYRK2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000402218.1 + ENST00000344096.3 Silent SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO CENPB 1059 broad.mit.edu 37 20 3765453 3765453 + Missense_Mutation SNP A A T TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr20:3765453A>T ENST00000379751.4 - 1.0 1884 c.1678T>A c.(1678-1680)Tcc>Acc p.S560T NM_001810.5 NP_001801.1 P07199 CENPB_HUMAN centromere protein B, 80kDa 560.0 Homodimerization. regulation of transcription, DNA-templated (GO:0006355) chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634) centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565) kidney(1)|large_intestine(2)|lung(4)|skin(1) 8.0 ATGGGGAAGGAGGTCAGGTAC 0.562 0 179.0 141.0 154.0 20 3765453.0 2203.0 4300.0 6503.0 SO:0001583 missense X05299 CCDS13064.1 20p13 2013-11-05 2002-08-29 ENSG00000125817 ENSG00000125817 1059.0 1059.0 1852.0 protein-coding gene gene with protein product 117140 """centromere protein B (80kD)""" 8406460, 11884609 Standard NM_001810 NM_001810 Approved uc002wjk.3 P07199 OTTHUMG00000031761 ENST00000379751.4:c.1678T>A 20.__UNKNOWN__:g.3765453A>T ENSP00000369075:p.Ser560Thr Q96EI4 __UNKNOWN__ CCDS13064.1 . . . . . . . . . . A 14.31 2.495859 0.44352 . . ENSG00000125817 ENST00000379751;ENST00000536335 T 0.47869 0.83 5.15 5.15 0.70609 Centromere protein Cenp-B, dimerisation domain (1); 0.000000 0.40469 U 0.001098 T 0.53834 0.1821 L 0.27053 0.805 0.29827 N 0.830332 D 0.57257 0.979 D 0.74023 0.982 T 0.55611 -0.8114 10 0.72032 D 0.01 -10.5159 11.3722 0.49707 1.0:0.0:0.0:0.0 . 560 P07199 CENPB_HUMAN T 560;99 ENSP00000369075:S560T ENSP00000369075:S560T S - 1 0 CENPB 3713453 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 2.975000 0.49281 1.940000 0.56252 0.533000 0.62120 TCC CENPB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077772.2 - ENST00000379751.4 Missense_Mutation SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO Unknown 0 bcgsc.ca 37 5 97912441 97912441 + RNA SNP G G A TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr5:97912441G>A AC008834.1 (415544 upstream) : AC022142.1 (62359 downstream) AACGCAGCCCGTGGTGGCCTG 0.547 0 SO:0001628 intergenic_variant 5.__UNKNOWN__:g.97912441G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO IL31 386653 ucsc.edu 37 12 122658709 122658709 + Missense_Mutation SNP T T C TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr12:122658709T>C ENST00000377035.1 - 1.0 37 c.11A>G c.(10-12)cAc>cGc p.H4R NM_001014336.1 NP_001014358.1 Q6EBC2 IL31_HUMAN interleukin 31 4.0 immune system process (GO:0002376) extracellular space (GO:0005615) central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13.0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;6.93e-05)|Breast(359;0.0544) OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223) GATACCTGAGTGAGAGGCCAT 0.577 0 60.0 59.0 60.0 12 122658709.0 2203.0 4300.0 6503.0 SO:0001583 missense AY499343 CCDS31919.1 12q24.31 2011-07-21 ENSG00000204671 ENSG00000204671 386653.0 386653.0 """Interleukins and interleukin receptors""" 19372.0 protein-coding gene gene with protein product 609509 15184896 Standard NM_001014336 NM_001014336 Approved IL-31 uc001ubv.3 Q6EBC2 OTTHUMG00000168916 ENST00000377035.1:c.11A>G 12.__UNKNOWN__:g.122658709T>C ENSP00000366234:p.His4Arg A2RUQ1 __UNKNOWN__ CCDS31919.1 . . . . . . . . . . T 12.71 2.020361 0.35606 . . ENSG00000204671 ENST00000377035 . . . 4.96 -9.92 0.00455 . 1.878820 0.02762 N 0.118716 T 0.23054 0.0557 L 0.27053 0.805 0.09310 N 1 B 0.14805 0.011 B 0.12837 0.008 T 0.13522 -1.0506 9 0.49607 T 0.09 0.3887 2.1877 0.03891 0.3249:0.3696:0.1104:0.195 . 4 Q6EBC2 IL31_HUMAN R 4 . ENSP00000366234:H4R H - 2 0 IL31 121224662 0.000000 0.05858 0.000000 0.03702 0.037000 0.13140 -2.544000 0.00933 -2.722000 0.00388 -0.464000 0.05259 CAC IL31-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401594.1 - ENST00000377035.1 Missense_Mutation SNP PCPG-TCGA-W2-A7H7-Normal-SM-5EMLO BRWD3 254065 broad.mit.edu 37 X 79999587 79999587 + Missense_Mutation SNP T T C TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chrX:79999587T>C ENST00000373275.4 - 8.0 973 c.757A>G c.(757-759)Act>Gct p.T253A NM_153252.4 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 253.0 cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360) breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87.0 GGTGCACAAGTTCGAAGACAC 0.403 0 137.0 116.0 123.0 X 79999587.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS14447.1 Xq21.1 2013-01-09 ENSG00000165288 ENSG00000165288 254065.0 254065.0 """WD repeat domain containing""" 17342.0 protein-coding gene gene with protein product 300553 15543602, 16094372 Standard NM_153252 NM_153252 Approved FLJ38568, MRX93 uc004edt.3 Q6RI45 OTTHUMG00000021908 ENST00000373275.4:c.757A>G X.__UNKNOWN__:g.79999587T>C ENSP00000362372:p.Thr253Ala C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916 __UNKNOWN__ CCDS14447.1 . . . . . . . . . . T 17.33 3.361755 0.61403 . . ENSG00000165288 ENST00000373275 T 0.22743 1.94 4.42 4.42 0.53409 WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1); 0.130388 0.49916 D 0.000125 T 0.21387 0.0515 L 0.53561 1.675 0.51482 D 0.999928 B 0.26975 0.165 B 0.27608 0.081 T 0.03503 -1.1030 9 . . . -14.2273 13.2009 0.59767 0.0:0.0:0.0:1.0 . 253 Q6RI45 BRWD3_HUMAN A 253 ENSP00000362372:T253A . T - 1 0 BRWD3 79886243 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 6.106000 0.71511 1.757000 0.51966 0.339000 0.21740 ACT BRWD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057344.1 - ENST00000373275.4 Missense_Mutation SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB WNT3 7473 broad.mit.edu 37 17 44847186 44847186 + Missense_Mutation SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr17:44847186G>A ENST00000225512.5 - 3.0 713 c.551C>T c.(550-552)tCg>tTg p.S184L NM_030753.4 NP_110380.1 P56703 WNT3_HUMAN wingless-type MMTV integration site family, member 3 184.0 anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018) endometrium(2)|large_intestine(6)|lung(4)|prostate(1) 13.0 BRCA - Breast invasive adenocarcinoma(9;0.0257) GTTCATGGCCGAGCGCGCGTC 0.687 0 38.0 35.0 36.0 17 44847186.0 2202.0 4299.0 6501.0 SO:0001583 missense AY009397 CCDS11505.1 17q21-q22 2013-02-28 ENSG00000108379 7473.0 7473.0 """Wingless-type MMTV integration sites"", ""Endogenous ligands""" 12782.0 protein-coding gene gene with protein product """WNT-3 proto-oncogene protein""" 165330 INT4 8244403 Standard NM_030753 NM_030753 Approved MGC131950, MGC138321, MGC138323 uc002ikv.3 P56703 ENST00000225512.5:c.551C>T 17.__UNKNOWN__:g.44847186G>A ENSP00000225512:p.Ser184Leu Q2M237|Q9H1J9 __UNKNOWN__ CCDS11505.1 . . . . . . . . . . G 23.4 4.411829 0.83340 . . ENSG00000108379 ENST00000225512 T 0.76186 -1.0 4.49 4.49 0.54785 . 0.136851 0.51477 D 0.000083 T 0.73225 0.3560 L 0.56340 1.77 0.80722 D 1 P 0.46578 0.88 P 0.44561 0.453 T 0.73563 -0.3943 10 0.32370 T 0.25 . 17.3636 0.87358 0.0:0.0:1.0:0.0 . 184 P56703 WNT3_HUMAN L 184 ENSP00000225512:S184L ENSP00000225512:S184L S - 2 0 WNT3 42202354 1.000000 0.71417 0.987000 0.45799 0.945000 0.59286 7.627000 0.83176 2.330000 0.79161 0.561000 0.74099 TCG WNT3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000440427.1 - ENST00000225512.5 Missense_Mutation SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB RWDD4 201965 broad.mit.edu 37 4 184572391 184572391 + Silent SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr4:184572391G>A ENST00000326397.5 - 3.0 467 c.195C>T c.(193-195)aaC>aaT p.N65N RWDD4_ENST00000510968.1_Intron|RWDD4_ENST00000512740.1_Silent_p.N2N|RWDD4_ENST00000327570.9_Silent_p.N65N NM_152682.2 NP_689895.2 Q6NW29 RWDD4_HUMAN RWD domain containing 4 65.0 RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}. large_intestine(2)|lung(4)|ovary(1)|prostate(1) 8.0 TAAAAAAAGCGTTCATAGATA 0.368 0 137.0 133.0 135.0 4 184572391.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC017472 CCDS34111.1 4q35.1 2012-12-07 2010-09-30 2010-09-30 ENSG00000182552 ENSG00000182552 201965.0 201965.0 23750.0 protein-coding gene gene with protein product """family with sequence similarity 28, member A"", ""RWD domain containing 4A""" FAM28A, RWDD4A Standard NM_152682 NM_152682 Approved MGC10198 uc003ivt.1 Q6NW29 OTTHUMG00000160632 ENST00000326397.5:c.195C>T 4.__UNKNOWN__:g.184572391G>A B2RDE9|B4DDP2|Q75LA9|Q8WVW2 __UNKNOWN__ CCDS34111.1 RWDD4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000361499.2 - ENST00000326397.5 Silent SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB RET 5979 broad.mit.edu 37 10 43609939 43609939 + Missense_Mutation SNP G G T TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr10:43609939G>T ENST00000355710.3 + 11.0 2123 c.1891G>T c.(1891-1893)Gac>Tac p.D631Y RET_ENST00000340058.5_Missense_Mutation_p.D631Y NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 631.0 D -> G (in thyroid carcinoma; somatic mutation; dbSNP:rs121913308). activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657) endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) p.L629_D631>H(2)|p.D627_L633>E(1) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607.0 Ovarian(717;0.0423) Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398) TCCACTGTGCGACGAGCTGTG 0.622 1.0 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149) yes Dom yes Multiple endocrine neoplasia 2A/2B 10 10q11.2 5979.0 ret proto-oncogene yes """E, O""" 3 Complex - deletion inframe(3) thyroid(3) GRCh37 CM005415 RET M 113.0 72.0 85.0 10 43609939.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC BC004257 CCDS7200.1, CCDS53525.1 10q11.2 2014-09-17 2007-02-16 ENSG00000165731 ENSG00000165731 5979.0 5979.0 """Cadherins / Cadherin-related""" 9967.0 protein-coding gene gene with protein product """cadherin-related family member 16""" 164761 """multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1""" HSCR1, MEN2A, MTC1, MEN2B 2687772, 1611909 Standard NM_020975 NM_020975 Approved PTC, CDHF12, RET51, CDHR16 uc001jal.3 P07949 OTTHUMG00000018024 ENST00000355710.3:c.1891G>T 10.__UNKNOWN__:g.43609939G>T ENSP00000347942:p.Asp631Tyr A8K6Z2|Q15250|Q9BTB0|Q9H4A2 __UNKNOWN__ CCDS7200.1 . . . . . . . . . . G 15.48 2.847501 0.51164 . . ENSG00000165731 ENST00000355710;ENST00000498820;ENST00000340058 T;D;T 0.98889 -1.22;-5.21;-1.34 4.52 3.62 0.41486 . 0.138830 0.64402 D 0.000005 D 0.98770 0.9586 M 0.72479 2.2 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.83275 0.964;0.987;0.996 D 0.99004 1.0812 10 0.54805 T 0.06 . 12.4484 0.55664 0.0807:0.0:0.9193:0.0 . 377;631;631 B4DGX8;P07949;P07949-2 .;RET_HUMAN;. Y 631;148;631 ENSP00000347942:D631Y;ENSP00000419080:D148Y;ENSP00000344798:D631Y ENSP00000344798:D631Y D + 1 0 RET 42929945 1.000000 0.71417 0.142000 0.22268 0.533000 0.34776 7.741000 0.84997 1.130000 0.42092 0.462000 0.41574 GAC RET-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000047694.2 + ENST00000355710.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB ADCY10 55811 broad.mit.edu 37 1 167794084 167794084 + Missense_Mutation SNP C C T rs139094168 TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr1:167794084C>T ENST00000367851.4 - 27.0 3944 c.3760G>A c.(3760-3762)Gct>Act p.A1254T ADCY10_ENST00000545172.1_Missense_Mutation_p.A1101T|ADCY10_ENST00000367848.1_Missense_Mutation_p.A1162T NM_018417.4 NP_060887.2 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1254.0 cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283) apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145) 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) 63.0 TCTAGGTAAGCCTTAATGATC 0.463 0 100.0 98.0 99.0 1 167794084.0 2203.0 4300.0 6503.0 SO:0001583 missense AF271058 CCDS1265.1, CCDS53426.1, CCDS72977.1 1q24 2013-02-04 ENSG00000143199 ENSG00000143199 55811.0 55811.0 4.6.1.1 """Adenylate cyclases""" 21285.0 protein-coding gene gene with protein product """soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2""" 605205 Standard NM_018417 XM_006711449 Approved SAC, Sacy, SACI, HCA2, RP1-313L4.2 uc001ger.3 Q96PN6 OTTHUMG00000034573 ENST00000367851.4:c.3760G>A 1.__UNKNOWN__:g.167794084C>T ENSP00000356825:p.Ala1254Thr B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0 __UNKNOWN__ CCDS1265.1 . . . . . . . . . . C 19.08 3.757207 0.69648 . . ENSG00000143199 ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848 T;T;T 0.34667 1.35;1.35;1.35 5.75 4.83 0.62350 . 0.000000 0.53938 D 0.000050 T 0.33614 0.0869 L 0.43757 1.38 0.31256 N 0.6934899999999999 D;D 0.65815 0.995;0.991 P;P 0.61940 0.896;0.79 T 0.16778 -1.0391 9 0.32370 T 0.25 -17.7296 12.1349 0.53966 0.1714:0.8286:0.0:0.0 . 1162;1254 Q96PN6-2;Q96PN6 .;ADCYA_HUMAN T 1101;155;1254;1162 ENSP00000441992:A1101T;ENSP00000356825:A1254T;ENSP00000356822:A1162T ENSP00000271426:A155T A - 1 0 ADCY10 166060708 0.540000 0.26410 1.000000 0.80357 0.980000 0.70556 0.987000 0.29603 1.415000 0.47037 -0.181000 0.13052 GCT ADCY10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000083663.1 - ENST00000367851.4 Missense_Mutation SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB MMP2 0 broad.mit.edu 37 16 55527178 55527178 + Missense_Mutation SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr16:55527178G>A ENST00000570308.1 + 10.0 1902 c.1217G>A c.(1216-1218)cGt>cAt p.R406H MMP2_ENST00000219070.4_Missense_Mutation_p.R482H|MMP2_ENST00000543485.1_Missense_Mutation_p.R406H|MMP2_ENST00000437642.2_Missense_Mutation_p.R432H P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 482.0 Collagenase-like 2. angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666) extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017) metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270) 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) 58.0 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) Captopril(DB01197)|Marimastat(DB00786) GCTCAGATCCGTGGTGAGATC 0.532 0 217.0 198.0 205.0 16 55527178.0 2198.0 4300.0 6498.0 SO:0001583 missense CCDS10752.1, CCDS45487.1 16q13-q21 2008-02-05 2005-08-08 ENSG00000087245 ENSG00000087245 4313.0 3.4.24.24 7166.0 protein-coding gene gene with protein product 120360 """matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)""" CLG4, CLG4A Standard NM_004530 Approved TBE-1 uc002ehz.4 P08253 OTTHUMG00000133202 ENST00000570308.1:c.1217G>A 16.__UNKNOWN__:g.55527178G>A ENSP00000461421:p.Arg406His B2R6U1|B4DWH3|E9PE45|Q9UCJ8 __UNKNOWN__ . . . . . . . . . . G 24.1 4.489611 0.84962 . . ENSG00000087245 ENST00000219070;ENST00000543485;ENST00000437642 T;T;T 0.10382 2.88;2.88;2.88 5.11 5.11 0.69529 Hemopexin/matrixin (2); 0.000000 0.85682 D 0.000000 T 0.47284 0.1437 H 0.96398 3.815 0.80722 D 1 D;D 0.89917 0.999;1.0 P;D 0.66716 0.849;0.946 T 0.65479 -0.6158 10 0.59425 D 0.04 . 18.5345 0.91004 0.0:0.0:1.0:0.0 . 432;482 E9PE45;P08253 .;MMP2_HUMAN H 482;406;432 ENSP00000219070:R482H;ENSP00000444143:R406H;ENSP00000394237:R432H ENSP00000219070:R482H R + 2 0 MMP2 54084679 1.000000 0.71417 0.997000 0.53966 0.997000 0.91878 5.699000 0.68310 2.389000 0.81357 0.563000 0.77884 CGT MMP2-008 PUTATIVE alternative_5_UTR|basic|exp_conf protein_coding protein_coding OTTHUMT00000440029.1 + ENST00000570308.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB TUBGCP6 85378 broad.mit.edu 37 22 50659117 50659117 + Missense_Mutation SNP C C A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr22:50659117C>A ENST00000248846.5 - 16.0 3775 c.3671G>T c.(3670-3672)aGg>aTg p.R1224M TUBGCP6_ENST00000439308.2_Missense_Mutation_p.R1224M|TUBGCP6_ENST00000491449.1_5'UTR Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1224.0 9 X 27 AA tandem repeats. G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278) centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922) microtubule binding (GO:0008017) 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) 45.0 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) CTCCCCAACCCTGATGCTGGT 0.622 0 85.0 72.0 76.0 22 50659117.0 2203.0 4300.0 6503.0 SO:0001583 missense AB051456 CCDS14087.1 22q13.31-q13.33 2008-07-01 ENSG00000128159 ENSG00000128159 85378.0 85378.0 18127.0 protein-coding gene gene with protein product """gamma-tubulin complex component 6""" 610053 11694571, 11258795 Standard NM_020461 XR_244458 Approved GCP6, KIAA1669, DJ402G11.6 uc003bkb.1 Q96RT7 OTTHUMG00000030150 ENST00000248846.5:c.3671G>T 22.__UNKNOWN__:g.50659117C>A ENSP00000248846:p.Arg1224Met Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4 __UNKNOWN__ CCDS14087.1 . . . . . . . . . . N 9.779 1.174752 0.21704 . . ENSG00000128159 ENST00000248846;ENST00000439308 T;T 0.12672 3.04;2.66 4.25 -7.68 0.01268 . 1.731360 0.02816 N 0.124901 T 0.22126 0.0533 L 0.38175 1.15 0.09310 N 1 P;D;P 0.58970 0.938;0.984;0.799 P;P;P 0.62491 0.69;0.903;0.465 T 0.49204 -0.8964 10 0.54805 T 0.06 . 11.0312 0.47774 0.0:0.1222:0.1131:0.7646 . 1216;1224;1224 B2RWN4;Q96RT7;Q96RT7-3 .;GCP6_HUMAN;. M 1224 ENSP00000248846:R1224M;ENSP00000397387:R1224M ENSP00000248846:R1224M R - 2 0 TUBGCP6 49001244 0.000000 0.05858 0.024000 0.17045 0.016000 0.09150 -1.185000 0.03073 -1.265000 0.02449 -0.403000 0.06358 AGG TUBGCP6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000075004.3 - ENST00000248846.5 Missense_Mutation SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB CARD18 59082 broad.mit.edu 37 11 105009793 105009793 + Missense_Mutation SNP C C T TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr11:105009793C>T ENST00000530950.1 - 2.0 19 c.20G>A c.(19-21)cGt>cAt p.R7H CARD18_ENST00000532895.1_5'UTR|CARD18_ENST00000526823.1_5'UTR NM_021571.3 NP_067546.1 P57730 CAR18_HUMAN caspase recruitment domain family, member 18 7.0 CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}. inflammatory response (GO:0006954)|regulation of apoptotic process (GO:0042981) cysteine-type endopeptidase inhibitor activity (GO:0004869) central_nervous_system(1)|ovary(1) 2.0 TCTCTTTTTACGCAAGAGTTG 0.378 0 HIS/ARG 2,3694 0,2,1846 107.0 94.0 98.0 20 -5.3 0.0 11 98.0 0,8210 0,0,4105 yes missense CARD18 NM_021571.3 29 0,2,5951 TT,TC,CC 0.0,0.0541,0.0168 probably-damaging 7/91 105009793.0 2,11904 1848.0 4105.0 5953.0 SO:0001583 missense AY358231 CCDS53705.1 11q22.3 2008-09-02 ENSG00000255501 59082.0 59082.0 28861.0 protein-coding gene gene with protein product 605354 11051551 Standard NM_021571 NM_021571 Approved UNQ5804, ICEBERG, pseudo-ICE uc021qpy.1 P57730 ENST00000530950.1:c.20G>A 11.__UNKNOWN__:g.105009793C>T ENSP00000436691:p.Arg7His A2RRF8 __UNKNOWN__ CCDS53705.1 . . . . . . . . . . . 0.053 -1.245739 0.01481 5.41E-4 0.0 ENSG00000255501 ENST00000530950 T 0.23754 1.89 2.63 -5.26 0.02772 DEATH-like (2);Caspase Recruitment (3); 0.640881 0.13227 U 0.403955 T 0.26882 0.0658 . . . 0.09310 N 0.999999 D 0.58620 0.983 P 0.56700 0.804 T 0.13202 -1.0518 9 0.40728 T 0.16 . 0.8843 0.01241 0.3726:0.1507:0.1116:0.3651 . 7 P57730 CAR18_HUMAN H 7 ENSP00000436691:R7H ENSP00000436691:R7H R - 2 0 CARD18 104515003 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -2.698000 0.00826 -3.146000 0.00232 -3.850000 0.00018 CGT CARD18-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000388183.2 - ENST00000530950.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB CASP2 835 broad.mit.edu 37 7 142985577 142985577 + Missense_Mutation SNP C C T TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr7:142985577C>T ENST00000310447.5 + 1.0 270 c.29C>T c.(28-30)tCc>tTc p.S10F CASP2_ENST00000392925.2_Missense_Mutation_p.S10F NM_032982.3|NM_032983.3 NP_116764.2|NP_116765.2 P42575 CASP2_HUMAN caspase 2, apoptosis-related cysteine peptidase 10.0 aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904) endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1) 21.0 Melanoma(164;0.059) GGGTCTTGGTCCACCTTCCAG 0.677 0 34.0 39.0 37.0 7 142985577.0 2202.0 4300.0 6502.0 SO:0001583 missense AK096245, BC002427, BM998653, BX537669, CB988674, U13021 CCDS5879.1, CCDS47733.1 7q34-q35 2014-01-20 2008-08-01 ENSG00000106144 ENSG00000106144 835.0 835.0 """Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 1503.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 57""" 600639 """neural precursor cell expressed, developmentally down-regulated 2""" NEDD2 7789948, 8780721 Standard NM_032982 NM_032982 Approved ICH1, PPP1R57, MGC2181 uc003wco.3 P42575 OTTHUMG00000023641 ENST00000310447.5:c.29C>T 7.__UNKNOWN__:g.142985577C>T ENSP00000312664:p.Ser10Phe A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0 __UNKNOWN__ CCDS5879.1 . . . . . . . . . . C 13.05 2.121309 0.37436 . . ENSG00000106144 ENST00000310447;ENST00000392925 T;T 0.51574 4.49;0.7 4.29 3.4 0.38934 . 1.893230 0.02803 N 0.123411 T 0.37544 0.1007 N 0.19112 0.55 0.09310 N 1 B;B 0.14805 0.011;0.005 B;B 0.09377 0.004;0.002 T 0.24404 -1.0161 10 0.42905 T 0.14 . 9.3755 0.38281 0.2128:0.7872:0.0:0.0 . 10;10 E9PDN0;P42575 .;CASP2_HUMAN F 10 ENSP00000312664:S10F;ENSP00000376656:S10F ENSP00000312664:S10F S + 2 0 CASP2 142695699 0.001000 0.12720 0.001000 0.08648 0.001000 0.01503 1.237000 0.32695 1.024000 0.39682 0.650000 0.86243 TCC CASP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000059962.3 + ENST00000310447.5 Missense_Mutation SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB MSLN 10232 broad.mit.edu 37 16 816649 816649 + Silent SNP T T G TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr16:816649T>G ENST00000382862.3 + 13.0 1331 c.1236T>G c.(1234-1236)ccT>ccG p.P412P MSLN_ENST00000566549.1_Intron|MSLN_ENST00000563941.1_Intron|MSLN_ENST00000545450.2_Intron NM_013404.4 NP_037536.2 Q13421 MSLN_HUMAN mesothelin 412.0 cell adhesion (GO:0007155)|pancreas development (GO:0031016) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886) breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20.0 Hepatocellular(780;0.00335) ACAAGGCTCCTCGGCGGCCCC 0.637 0 51.0 57.0 55.0 16 816649.0 2186.0 4283.0 6469.0 SO:0001819 synonymous_variant U40434 CCDS32356.1, CCDS45370.1 16p13.3 2008-04-16 ENSG00000102854 ENSG00000102854 10232.0 10232.0 7371.0 protein-coding gene gene with protein product 601051 7665620, 8552591 Standard NM_005823 Approved CAK1, MPF uc002cjw.2 Q13421 OTTHUMG00000047992 ENST00000382862.3:c.1236T>G 16.__UNKNOWN__:g.816649T>G D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57 __UNKNOWN__ CCDS32356.1 MSLN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000109253.2 + ENST00000382862.3 Silent SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB MCOLN2 255231 broad.mit.edu 37 1 85431293 85431293 + Missense_Mutation SNP C C A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr1:85431293C>A ENST00000284027.5 - 2.0 203 c.92G>T c.(91-93)aGa>aTa p.R31I MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000370608.3_Missense_Mutation_p.R59I Q8IZK6 MCLN2_HUMAN mucolipin 2 59.0 calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18.0 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) AATCTGGCGTCTGGCTCGGTA 0.413 0 104.0 104.0 104.0 1 85431293.0 2203.0 4300.0 6503.0 SO:0001583 missense AK094010 CCDS30762.1 1p22 2011-12-16 ENSG00000153898 ENSG00000153898 255231.0 255231.0 """Voltage-gated ion channels / Transient receptor potential cation channels""" 13357.0 protein-coding gene gene with protein product 607399 16382100 Standard NM_153259 XM_005270719 Approved TRPML2, FLJ36691, TRP-ML2 uc001dkm.3 Q8IZK6 OTTHUMG00000009954 ENST00000284027.5:c.92G>T 1.__UNKNOWN__:g.85431293C>A ENSP00000284027:p.Arg31Ile A6NI99|Q2M3I6|Q5TAG5|Q8N9R3 __UNKNOWN__ . . . . . . . . . . C 34 5.313115 0.95655 . . ENSG00000153898 ENST00000370608;ENST00000284027 T;T 0.60424 0.19;0.19 5.87 5.87 0.94306 . 0.000000 0.85682 D 0.000000 T 0.76321 0.3971 M 0.81942 2.565 0.80722 D 1 D 0.76494 0.999 D 0.85130 0.997 T 0.76857 -0.2804 10 0.72032 D 0.01 -24.5202 20.5827 0.99408 0.0:1.0:0.0:0.0 . 59 Q8IZK6 MCLN2_HUMAN I 59;31 ENSP00000359640:R59I;ENSP00000284027:R31I ENSP00000284027:R31I R - 2 0 MCOLN2 85203881 1.000000 0.71417 0.990000 0.47175 0.863000 0.49368 7.386000 0.79775 2.941000 0.99782 0.655000 0.94253 AGA MCOLN2-005 PUTATIVE basic|appris_principal protein_coding protein_coding OTTHUMT00000382117.1 - ENST00000284027.5 Missense_Mutation SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB HSP90AA1 3320 broad.mit.edu 37 14 102551717 102551717 + Missense_Mutation SNP T T G TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr14:102551717T>G ENST00000216281.8 - 4.0 786 c.581A>C c.(580-582)cAa>cCa p.Q194P HSP90AA1_ENST00000441629.2_Missense_Mutation_p.Q15P|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.Q316P NM_005348.3 NP_005339.3 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 194.0 ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28.0 Nedocromil(DB00716)|Rifabutin(DB00615) GTACTCAGTTTGGTCTTCTTT 0.343 0 79.0 65.0 70.0 14 102551717.0 2203.0 4300.0 6503.0 SO:0001583 missense M27024 CCDS9967.1, CCDS32160.1 14q32.33 2011-09-02 2006-02-24 2006-02-24 ENSG00000080824 ENSG00000080824 3320.0 3320.0 """Heat shock proteins / HSPC""" 5253.0 protein-coding gene gene with protein product 140571 """heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha""" HSPC1, HSPCA 2527334, 16269234 Standard NM_005348 NM_001017963 Approved Hsp89, Hsp90, FLJ31884, HSP90N uc001ykv.4 P07900 ENST00000216281.8:c.581A>C 14.__UNKNOWN__:g.102551717T>G ENSP00000216281:p.Gln194Pro A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5 __UNKNOWN__ CCDS9967.1 . . . . . . . . . . t 18.57 3.651988 0.67472 . . ENSG00000080824 ENST00000216281;ENST00000334701;ENST00000441629;ENST00000553585 T;T;T;T 0.76839 -1.05;-1.05;2.49;-1.05 4.29 4.29 0.51040 Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (3); 0.000000 0.85682 U 0.000000 D 0.90995 0.7168 H 0.95328 3.655 0.80722 D 1 P;D;P 0.71674 0.824;0.998;0.952 P;D;D 0.83275 0.84;0.996;0.921 D 0.93474 0.6821 10 0.87932 D 0 -26.5834 13.741 0.62847 0.0:0.0:0.0:1.0 . 15;316;194 Q86U12;P07900-2;P07900 .;.;HS90A_HUMAN P 194;316;15;125 ENSP00000216281:Q194P;ENSP00000335153:Q316P;ENSP00000396189:Q15P;ENSP00000450712:Q125P ENSP00000216281:Q194P Q - 2 0 HSP90AA1 101621470 1.000000 0.71417 0.955000 0.39395 0.996000 0.88848 7.827000 0.86722 1.723000 0.51488 0.528000 0.53228 CAA HSP90AA1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000414952.2 - ENST00000216281.8 Missense_Mutation SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB TBC1D10C 374403 broad.mit.edu 37 11 67177213 67177213 + Missense_Mutation SNP C C G TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr11:67177213C>G ENST00000542590.1 + 9.0 1343 c.1329C>G c.(1327-1329)gaC>gaG p.D443E TBC1D10C_ENST00000312390.5_Missense_Mutation_p.D443E|TBC1D10C_ENST00000526387.1_3'UTR Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 443.0 Interaction with calcineurin. retrograde transport, endosome to Golgi (GO:0042147) filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886) Rab GTPase activator activity (GO:0005097) cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16.0 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCTTCCTGGACACCCGCTTCT 0.647 0 14.0 17.0 16.0 11 67177213.0 1892.0 3976.0 5868.0 SO:0001583 missense BC035630 CCDS8162.1, CCDS58150.1 11q13.1 2013-07-09 ENSG00000175463 ENSG00000175463 374403.0 374403.0 24702.0 protein-coding gene gene with protein product 610831 17230191, 20404108 Standard NM_198517 NM_001256508 Approved FLJ00332, Carabin, EPI64C uc001ola.4 Q8IV04 OTTHUMG00000167139 ENST00000542590.1:c.1329C>G 11.__UNKNOWN__:g.67177213C>G ENSP00000443654:p.Asp443Glu G3V1D6 __UNKNOWN__ CCDS8162.1 . . . . . . . . . . C 13.96 2.392781 0.42410 . . ENSG00000175463 ENST00000312390;ENST00000542590 T;T 0.08634 3.07;3.07 4.67 3.73 0.42828 . 0.000000 0.49305 D 0.000159 T 0.07548 0.0190 L 0.44542 1.39 0.28292 N 0.923494 B 0.23316 0.083 B 0.19666 0.026 T 0.17077 -1.0381 10 0.33141 T 0.24 . 7.8674 0.29545 0.0:0.8813:0.0:0.1186 . 443 Q8IV04 TB10C_HUMAN E 443 ENSP00000310193:D443E;ENSP00000443654:D443E ENSP00000310193:D443E D + 3 2 TBC1D10C 66933789 0.035000 0.19736 1.000000 0.80357 0.961000 0.63080 0.107000 0.15375 1.143000 0.42306 0.455000 0.32223 GAC TBC1D10C-007 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395492.2 + ENST00000542590.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB TNKS 8658 broad.mit.edu 37 8 9627729 9627729 + Missense_Mutation SNP A A G TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr8:9627729A>G ENST00000518281.1 + 26.0 3574 c.3143A>G c.(3142-3144)aAt>aGt p.N1048S TNKS_ENST00000310430.6_Missense_Mutation_p.N1285S O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 1285.0 SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}. mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055) chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242) NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270) NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49.0 COAD - Colon adenocarcinoma(149;0.0467) CCGAGCGTCAATGGGCTGGCA 0.473 0 80.0 68.0 72.0 8 9627729.0 2203.0 4299.0 6502.0 SO:0001583 missense AF082556 CCDS5974.1 8p23.1 2013-01-10 ENSG00000173273 ENSG00000173273 8658.0 8658.0 """Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing""" 11941.0 protein-coding gene gene with protein product 603303 9822378, 10198177 Standard NM_003747 XM_006716263 Approved TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5 uc003wss.3 O95271 OTTHUMG00000090481 ENST00000518281.1:c.3143A>G 8.__UNKNOWN__:g.9627729A>G ENSP00000429890:p.Asn1048Ser O95272|Q4G0F2 __UNKNOWN__ . . . . . . . . . . A 13.40 2.226964 0.39399 . . ENSG00000173273 ENST00000310430;ENST00000518281;ENST00000517770 T;T;T 0.12984 2.63;2.63;2.65 5.18 5.18 0.71444 Poly(ADP-ribose) polymerase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.15176 0.0366 L 0.44542 1.39 0.80722 D 1 B 0.27229 0.172 B 0.27500 0.08 T 0.02553 -1.1142 10 0.56958 D 0.05 . 15.3416 0.74303 1.0:0.0:0.0:0.0 . 1285 O95271 TNKS1_HUMAN S 1285;1048;30 ENSP00000311579:N1285S;ENSP00000429890:N1048S;ENSP00000428185:N30S ENSP00000311579:N1285S N + 2 0 TNKS 9665139 1.000000 0.71417 1.000000 0.80357 0.181000 0.23173 9.277000 0.95755 2.098000 0.63641 0.533000 0.62120 AAT TNKS-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000375036.1 + ENST00000518281.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB FBXO15 201456 broad.mit.edu 37 18 71740825 71740825 + Silent SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr18:71740825G>A ENST00000419743.2 - 10.0 1483 c.1404C>T c.(1402-1404)taC>taT p.Y468Y FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000269500.5_Silent_p.Y392Y NM_001142958.1 NP_001136430.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 468.0 SCF ubiquitin ligase complex (GO:0019005) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27.0 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) CCGCATCAACGTAGTCCACGT 0.502 0 , 0,4406 0,0,2203 248.0 232.0 238.0 1404,1176 1.0 0.0 18 238.0 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous,coding-synonymous FBXO15 NM_001142958.1,NM_152676.2 , 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 , 468/511,392/435 71740825.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK094215 CCDS45884.1 18q22.3 2006-03-09 2004-06-15 ENSG00000141665 ENSG00000141665 201456.0 201456.0 """F-boxes / ""other""""" 13617.0 protein-coding gene gene with protein product 609093 """F-box only protein 15""" 12665572 Standard NM_152676 NM_152676 Approved MGC39671, FBX15 uc002llf.2 Q8NCQ5 OTTHUMG00000132842 ENST00000419743.2:c.1404C>T 18.__UNKNOWN__:g.71740825G>A B3KST3 __UNKNOWN__ CCDS45884.1 FBXO15-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000444223.1 - ENST00000419743.2 Silent SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB PLXNB1 5364 broad.mit.edu 37 3 48445926 48445926 + Silent SNP T T C TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr3:48445926T>C ENST00000358536.4 - 38.0 6644 c.6375A>G c.(6373-6375)gcA>gcG p.A2125A PLXNB1_ENST00000296440.6_Silent_p.A2125A|PLXNB1_ENST00000358459.4_Silent_p.A1942A|PLXNB1_ENST00000448774.2_Silent_p.A736A|PLXNB1_ENST00000456774.1_Silent_p.A1942A NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 2125.0 axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116) GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47.0 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCACAGCAGCTGCAATCTGCT 0.587 0 T , 1,4405 2.1+/-5.4 0,1,2202 56.0 54.0 54.0 6375,6375 -8.8 0.9 3 54.0 0,8600 0,0,4300 no coding-synonymous,coding-synonymous PLXNB1 NM_001130082.1,NM_002673.4 , 0,1,6502 CC,CT,TT 0.0,0.0227,0.0077 , 2125/2136,2125/2136 48445926.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X87904 CCDS2765.1 3p21.31 2008-07-18 ENSG00000164050 ENSG00000164050 5364.0 5364.0 """Plexins""" 9103.0 protein-coding gene gene with protein product 601053 PLXN5 8570614, 11035813 Standard NM_002673 XM_005265234 Approved SEP, KIAA0407 uc003csw.2 O43157 OTTHUMG00000133527 ENST00000358536.4:c.6375A>G 3.__UNKNOWN__:g.48445926T>C A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93 __UNKNOWN__ CCDS2765.1 PLXNB1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000344454.1 - ENST00000358536.4 Silent SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB GJA5 2702 broad.mit.edu 37 1 147230307 147230307 + Missense_Mutation SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr1:147230307G>A ENST00000271348.2 - 2.0 1201 c.1040C>T c.(1039-1041)gCc>gTc p.A347V RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.A347V NM_005266.5 NP_005257.2 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 347.0 angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281) connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704) gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077) breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20.0 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) CTTGCTGCTGGCCTTACTAAG 0.542 0 114.0 104.0 108.0 1 147230307.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS929.1 1q21.1 2008-02-05 2007-01-16 ENSG00000143140 ENSG00000265107 2702.0 2702.0 """Ion channels / Gap junction proteins (connexins)""" 4279.0 protein-coding gene gene with protein product """connexin 40""" 121013 """gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)""" Standard NM_181703 NM_005266 Approved CX40 uc001eps.1 P36382 OTTHUMG00000014020 ENST00000271348.2:c.1040C>T 1.__UNKNOWN__:g.147230307G>A ENSP00000271348:p.Ala347Val Q5T3B6|Q5U0N6 __UNKNOWN__ CCDS929.1 . . . . . . . . . . G 17.20 3.328319 0.60743 . . ENSG00000143140 ENST00000271348;ENST00000369237 D;D 0.89123 -2.47;-2.47 5.38 4.45 0.53987 . 0.441099 0.23724 N 0.045181 D 0.83552 0.5279 M 0.76002 2.32 0.46222 D 0.998938 B 0.28998 0.23 B 0.21360 0.034 D 0.85094 0.0953 10 0.87932 D 0 . 15.3714 0.74568 0.0:0.0:0.8596:0.1404 . 347 P36382 CXA5_HUMAN V 347 ENSP00000271348:A347V;ENSP00000358240:A347V ENSP00000271348:A347V A - 2 0 GJA5 145696931 1.000000 0.71417 1.000000 0.80357 0.964000 0.63967 6.133000 0.71682 1.456000 0.47831 0.655000 0.94253 GCC GJA5-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039422.2 - ENST00000271348.2 Missense_Mutation SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB HAVCR1 26762 broad.mit.edu 37 5 156482298 156482298 + Missense_Mutation SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr5:156482298G>A ENST00000339252.3 - 2.0 825 c.293C>T c.(292-294)tCt>tTt p.S98F HAVCR1_ENST00000523175.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000544197.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000522693.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000425854.1_Missense_Mutation_p.S98F NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 0.0 Ig-like V-type. viral process (GO:0016032) integral component of membrane (GO:0016021) virus receptor activity (GO:0001618) endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28.0 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCCACTGTCAGACACAGCTGT 0.453 0 94.0 82.0 86.0 5 156482298.0 2021.0 4207.0 6228.0 SO:0001583 missense AF043724 CCDS43392.1 5q33.2 2014-01-14 ENSG00000113249 ENSG00000113249 26762.0 26762.0 """Immunoglobulin superfamily / V-set domain containing""" 17866.0 protein-coding gene gene with protein product """T-cell immunoglobulin mucin family member 1""" 606518 9658108, 11725301 Standard NM_012206 Approved HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1 uc021ygj.1 Q96D42 OTTHUMG00000163466 ENST00000339252.3:c.293C>T 5.__UNKNOWN__:g.156482298G>A ENSP00000344844:p.Ser98Phe O43656 __UNKNOWN__ CCDS43392.1 . . . . . . . . . . G 13.29 2.192506 0.38707 . . ENSG00000113249 ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745 T;T;T;T;T;T 0.52754 0.65;0.65;0.65;0.65;0.65;0.65 5.78 -2.73 0.05950 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 1.589060 0.03506 N 0.218919 T 0.68201 0.2975 M 0.87097 2.86 0.09310 N 1 D;D 0.67145 0.996;0.996 D;D 0.65443 0.935;0.935 T 0.59526 -0.7438 10 0.87932 D 0 -0.7501 6.6383 0.22895 0.0691:0.096:0.2227:0.6122 . 98;98 F1CME6;Q96D42 .;HAVR1_HUMAN F 98 ENSP00000428524:S98F;ENSP00000427898:S98F;ENSP00000344844:S98F;ENSP00000403333:S98F;ENSP00000440258:S98F;ENSP00000428422:S98F ENSP00000344844:S98F S - 2 0 HAVCR1 156414876 0.020000 0.18652 0.001000 0.08648 0.020000 0.10135 0.168000 0.16622 -0.160000 0.11002 -0.188000 0.12872 TCT HAVCR1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000373698.1 - ENST00000339252.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB CCL13 6357 broad.mit.edu 37 17 32685095 32685095 + Missense_Mutation SNP G G C TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr17:32685095G>C ENST00000225844.2 + 3.0 317 c.242G>C c.(241-243)tGg>tCg p.W81S NM_005408.2 NP_005399.1 Q99616 CCL13_HUMAN chemokine (C-C motif) ligand 13 81.0 cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165) extracellular space (GO:0005615) chemokine activity (GO:0008009)|receptor binding (GO:0005102) large_intestine(1)|prostate(1) 2.0 Ovarian(249;0.0443)|Breast(31;0.151) AAGGAGAAGTGGGTCCAGAAT 0.493 0 72.0 70.0 71.0 17 32685095.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ001634 CCDS11281.1 17q11.2 2013-02-25 2002-08-22 2002-08-23 ENSG00000181374 ENSG00000181374 6357.0 6357.0 """Chemokine ligands"", ""Endogenous ligands""" 10611.0 protein-coding gene gene with protein product 601391 """small inducible cytokine subfamily A (Cys-Cys), member 13""" SCYA13 8661057 Standard NM_005408 NM_005408 Approved MCP-4, NCC-1, SCYL1, CKb10, MGC17134 uc002hic.3 Q99616 OTTHUMG00000132890 ENST00000225844.2:c.242G>C 17.__UNKNOWN__:g.32685095G>C ENSP00000225844:p.Trp81Ser O95689|Q6ICQ6 __UNKNOWN__ CCDS11281.1 . . . . . . . . . . G 6.735 0.504466 0.12822 . . ENSG00000181374 ENST00000225844 T 0.09723 2.95 4.37 4.37 0.52481 Chemokine interleukin-8-like domain (3); . . . . T 0.31575 0.0801 . . . 0.58432 D 0.999999 D 0.89917 1.0 D 0.97110 1.0 T 0.04678 -1.0934 8 0.66056 D 0.02 . 12.4063 0.55441 0.0:0.0:1.0:0.0 . 81 Q99616 CCL13_HUMAN S 81 ENSP00000225844:W81S ENSP00000225844:W81S W + 2 0 CCL13 29709208 1.000000 0.71417 0.892000 0.35008 0.369000 0.29798 2.126000 0.42026 1.958000 0.56883 0.561000 0.74099 TGG CCL13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256389.1 + ENST00000225844.2 Missense_Mutation SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB TBC1D1 23216 broad.mit.edu 37 4 38051409 38051409 + Silent SNP C C T TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr4:38051409C>T ENST00000261439.4 + 11.0 2155 c.1800C>T c.(1798-1800)ttC>ttT p.F600F TBC1D1_ENST00000508802.1_Silent_p.F600F 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 1 600.0 membrane organization (GO:0061024)|regulation of protein localization (GO:0032880) cytosol (GO:0005829)|nucleus (GO:0005634) Rab GTPase activator activity (GO:0005097) NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36.0 TGAGTCACTTCCCCATCGAAT 0.602 0 61.0 65.0 63.0 4 38051409.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB029031 CCDS33972.1, CCDS58897.1 4p14 2013-07-09 ENSG00000065882 ENSG00000065882 23216.0 23216.0 11578.0 protein-coding gene gene with protein product 609850 10965142, 18258599 Standard NM_015173 NM_015173 Approved TBC, TBC1, KIAA1108 uc003gtb.3 Q86TI0 OTTHUMG00000150302 ENST00000261439.4:c.1800C>T 4.__UNKNOWN__:g.38051409C>T B7Z3D9|E9PGH8|Q96K82|Q9UPP4 __UNKNOWN__ CCDS33972.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 0.626|0.626 -0.819010|-0.819010 0.02776|0.02776 .|. .|. ENSG00000065882|ENSG00000065882 ENST00000510573|ENST00000513936;ENST00000443855 .|. .|. .|. 5.06|5.06 2.38|2.38 0.29361|0.29361 .|. .|. .|. .|. .|. T|T 0.51822|0.51822 0.1697|0.1697 .|. .|. .|. 0.80722|0.80722 D|D 1|1 .|. .|. .|. .|. .|. .|. T|T 0.38045|0.38045 -0.9679|-0.9679 4|4 .|. .|. .|. -0.7129|-0.7129 4.9483|4.9483 0.14000|0.14000 0.2694:0.5134:0.0:0.2172|0.2694:0.5134:0.0:0.2172 .|. .|. .|. .|. S|F 248|125;92 .|. .|. P|S +|+ 1|2 0|0 TBC1D1|TBC1D1 37727804|37727804 0.218000|0.218000 0.23608|0.23608 0.326000|0.326000 0.25389|0.25389 0.016000|0.016000 0.09150|0.09150 -0.477000|-0.477000 0.06583|0.06583 0.251000|0.251000 0.21505|0.21505 -0.136000|-0.136000 0.14681|0.14681 CCC|TCC TBC1D1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317443.2 + ENST00000261439.4 Silent SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB ZNF334 55713 broad.mit.edu 37 20 45130415 45130415 + Silent SNP T T C TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr20:45130415T>C ENST00000347606.4 - 5.0 1745 c.1563A>G c.(1561-1563)gaA>gaG p.E521E ZNF334_ENST00000593880.1_Silent_p.E544E|ZNF334_ENST00000457685.2_Silent_p.E483E NM_018102.4 NP_060572.3 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 521.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32.0 Myeloproliferative disorder(115;0.0122) CATGCCCATGTTCACTACACT 0.403 0 221.0 204.0 210.0 20 45130415.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK001331 CCDS33480.1, CCDS74736.1 20q13.12 2013-09-20 ENSG00000198185 ENSG00000198185 55713.0 55713.0 """Zinc fingers, C2H2-type"", ""-""" 15806.0 protein-coding gene gene with protein product Standard NM_018102 Approved bA179N14.1 uc002xsc.4 Q9HCZ1 OTTHUMG00000032654 ENST00000347606.4:c.1563A>G 20.__UNKNOWN__:g.45130415T>C Q5T6U2|Q9NVW4 __UNKNOWN__ CCDS33480.1 ZNF334-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079575.1 - ENST00000347606.4 Silent SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB TRAPPC10 7109 broad.mit.edu 37 21 45518255 45518255 + Silent SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr21:45518255G>A ENST00000291574.4 + 21.0 3361 c.3186G>A c.(3184-3186)aaG>aaA p.K1062K NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 1062.0 sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) sodium ion transmembrane transporter activity (GO:0015081) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41.0 ACAACGTGAAGGCTGAGATCT 0.502 0 154.0 148.0 150.0 21 45518255.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U19252 CCDS13704.1 21q22.3 2008-05-07 2008-05-07 2008-05-07 ENSG00000160218 ENSG00000160218 7109.0 7109.0 """Trafficking protein particle complex""" 11868.0 protein-coding gene gene with protein product """trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit""" 602103 """transmembrane protein 1""" TMEM1 7633421 Standard NM_003274 NM_003274 Approved EHOC-1, TRS130 uc002zea.3 P48553 OTTHUMG00000086894 ENST00000291574.4:c.3186G>A 21.__UNKNOWN__:g.45518255G>A Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3 __UNKNOWN__ CCDS13704.1 TRAPPC10-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000195737.1 + ENST00000291574.4 Silent SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB LTBP1 4052 broad.mit.edu 37 2 33413856 33413856 + Missense_Mutation SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr2:33413856G>A ENST00000402934.1 + 3.0 774 c.661G>A c.(661-663)Gtc>Atc p.V221I LTBP1_ENST00000404816.2_Missense_Mutation_p.V547I|LTBP1_ENST00000354476.3_Missense_Mutation_p.V547I|LTBP1_ENST00000407925.1_Missense_Mutation_p.V221I|LTBP1_ENST00000418533.2_Missense_Mutation_p.V221I|LTBP1_ENST00000390003.4_Missense_Mutation_p.V221I|LTBP1_ENST00000404525.1_Missense_Mutation_p.V221I Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 547.0 extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024) 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) 108.0 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CATTCCTCACGTCTACCCCGT 0.537 0 143.0 139.0 141.0 2 33413856.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1 2p22-p21 2008-05-23 ENSG00000049323 ENSG00000049323 4052.0 4052.0 """Latent transforming growth factor, beta binding proteins""" 6714.0 protein-coding gene gene with protein product """TGF-beta1-BP-1""" 150390 2350783, 11104663 Standard NM_206943 NM_206943 Approved uc021vft.1 Q14766 OTTHUMG00000152118 ENST00000402934.1:c.661G>A 2.__UNKNOWN__:g.33413856G>A ENSP00000384373:p.Val221Ile A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95 __UNKNOWN__ . . . . . . . . . . G 12.17 1.856732 0.32791 . . ENSG00000049323 ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925 T;T;T;T;T;T;T 0.80566 -1.39;-1.38;-1.33;-1.28;-1.31;-1.3;-1.29 5.73 1.76 0.24704 . . . . . T 0.65417 0.2689 N 0.25647 0.755 0.47737 D 0.999502 B;B;B;B;B;B 0.29716 0.015;0.164;0.0;0.161;0.255;0.026 B;B;B;B;B;B 0.31245 0.006;0.126;0.002;0.072;0.105;0.015 T 0.49560 -0.8927 9 0.22109 T 0.4 . 6.876 0.24147 0.2753:0.1153:0.6094:0.0 . 547;221;221;221;221;547 Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4 LTBP1_HUMAN;.;.;.;.;. I 547;547;221;221;221;221;221 ENSP00000386043:V547I;ENSP00000346467:V547I;ENSP00000374653:V221I;ENSP00000393057:V221I;ENSP00000384373:V221I;ENSP00000385359:V221I;ENSP00000384091:V221I ENSP00000346467:V547I V + 1 0 LTBP1 33267360 0.192000 0.23301 0.768000 0.31515 0.959000 0.62525 0.325000 0.19628 0.043000 0.15746 0.561000 0.74099 GTC LTBP1-008 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000325421.3 + ENST00000402934.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB HELZ 9931 broad.mit.edu 37 17 65074569 65074569 + Silent SNP C C T TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr17:65074569C>T ENST00000358691.5 - 33.0 5794 c.5628G>A c.(5626-5628)gcG>gcA p.A1876A HELZ_ENST00000580168.1_Silent_p.A1877A NM_014877.3 NP_055692 P42694 HELZ_HUMAN helicase with zinc finger 1876.0 membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) 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) 69.0 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TGGCCGACTCCGCGATCTGCT 0.612 0 128.0 130.0 129.0 17 65074569.0 1952.0 4152.0 6104.0 SO:0001819 synonymous_variant D29677 CCDS42374.1 17q24.2 2013-01-18 ENSG00000198265 ENSG00000198265 9931.0 9931.0 """Zinc fingers, CCCH-type domain containing""" 16878.0 protein-coding gene gene with protein product """down-regulated in human cancers""" 606699 10471385, 12691822 Standard NM_014877 NM_014877 Approved KIAA0054, HUMORF5, DHRC uc002jfx.4 P42694 OTTHUMG00000179555 ENST00000358691.5:c.5628G>A 17.__UNKNOWN__:g.65074569C>T I6L9H4 __UNKNOWN__ CCDS42374.1 HELZ-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000447068.1 - ENST00000358691.5 Silent SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB RP11-399J13.3 402 broad.mit.edu 37 11 64781694 64781694 + Silent SNP C C T TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr11:64781694C>T ENST00000301886.3 + 1.0 41 c.15C>T c.(13-15)acC>acT p.T5T ARL2_ENST00000529384.1_Silent_p.T5T|ARL2_ENST00000533729.1_Silent_p.T5T|ARL2_ENST00000246747.4_Silent_p.T5T GGCTCCTGACCATTCTGAAGA 0.672 0 21.0 23.0 23.0 11 64781694.0 2190.0 4293.0 6483.0 SO:0001819 synonymous_variant ENST00000301886.3:c.15C>T 11.__UNKNOWN__:g.64781694C>T __UNKNOWN__ RP11-399J13.3-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay protein_coding OTTHUMT00000471510.1 + ENST00000301886.3 Silent SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB TAB3 257397 broad.mit.edu 37 X 30872733 30872733 + Missense_Mutation SNP T T C TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chrX:30872733T>C ENST00000378933.1 - 3.0 1226 c.1049A>G c.(1048-1050)tAt>tGt p.Y350C TAB3_ENST00000288422.2_Missense_Mutation_p.Y350C|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378932.2_Missense_Mutation_p.Y350C|TAB3_ENST00000378930.3_Missense_Mutation_p.Y350C NM_152787.3 NP_690000.2 Q8N5C8 TAB3_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 3 350.0 Pro-rich. activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27.0 GTATGGAAGATAGGCTACTGA 0.433 Pancreas(164;1598 1985 29022 43301 49529) 0 140.0 129.0 132.0 X 30872733.0 2202.0 4300.0 6502.0 SO:0001583 missense AY331591 CCDS14226.1 Xp21.2 2010-02-05 2010-02-05 2010-02-05 ENSG00000157625 ENSG00000157625 257397.0 257397.0 30681.0 protein-coding gene gene with protein product """TAK1 binding protein 3""" 300480 """mitogen-activated protein kinase kinase kinase 7 interacting protein 3""" MAP3K7IP3 14633987, 14670075 Standard NM_152787 XM_005274482 Approved uc004dcj.3 Q8N5C8 OTTHUMG00000021329 ENST00000378933.1:c.1049A>G X.__UNKNOWN__:g.30872733T>C ENSP00000368215:p.Tyr350Cys A6NDD9|Q6VQR0 __UNKNOWN__ CCDS14226.1 . . . . . . . . . . T 11.47 1.648904 0.29336 . . ENSG00000157625 ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932 T;T;T;T 0.73897 -0.79;-0.79;-0.79;-0.77 5.03 5.03 0.67393 . 0.000000 0.85682 D 0.000000 T 0.77260 0.4104 L 0.27053 0.805 0.36396 D 0.862833 D;D 0.71674 0.998;0.997 D;P 0.67103 0.949;0.788 T 0.82655 -0.0350 10 0.52906 T 0.07 -2.0E-4 14.1229 0.65201 0.0:0.0:0.0:1.0 . 350;350 Q8N5C8-2;Q8N5C8 .;TAB3_HUMAN C 350 ENSP00000368215:Y350C;ENSP00000368212:Y350C;ENSP00000288422:Y350C;ENSP00000368214:Y350C ENSP00000288422:Y350C Y - 2 0 TAB3 30782654 1.000000 0.71417 1.000000 0.80357 0.580000 0.36256 3.110000 0.50352 1.782000 0.52362 0.433000 0.28618 TAT TAB3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056173.1 - ENST00000378933.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB PSG7 5676 broad.mit.edu 37 19 43433862 43433862 + RNA SNP G G T TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr19:43433862G>T ENST00000406070.2 - 0.0 537 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy (GO:0007565) extracellular region (GO:0005576) Prostate(69;0.00682) TGGAGGGTTTGGGAGTCTCCA 0.512 0 147.0 149.0 148.0 19 43433862.0 2201.0 4300.0 6501.0 19q13.2 2013-01-29 2010-02-26 ENSG00000221878 ENSG00000221878 5676.0 5676.0 """Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 9524.0 protein-coding gene gene with protein product 176396 """pregnancy specific beta-1-glycoprotein 7""" Standard NM_001206650 NM_002783 Approved uc010xwl.2 Q13046 OTTHUMG00000151125 ENST00000406070.2: 19.__UNKNOWN__:g.43433862G>T Q15232 __UNKNOWN__ PSG7-001 KNOWN basic polymorphic_pseudogene polymorphic_pseudogene OTTHUMT00000321431.2 - ENST00000406070.2 RNA SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB PRG4 10216 broad.mit.edu 37 1 186276366 186276366 + Silent SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr1:186276366G>A ENST00000445192.2 + 7.0 1560 c.1515G>A c.(1513-1515)gaG>gaA p.E505E PRG4_ENST00000367486.3_Silent_p.E462E|PRG4_ENST00000367483.4_Silent_p.E464E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.E412E NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 505.0 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127) extracellular space (GO:0005615) polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044) 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) 102.0 CTCCCAAGGAGCCTGCACCCA 0.647 0 113.0 113.0 113.0 1 186276366.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant U70136 CCDS1369.1, CCDS44287.1, CCDS44288.1 1q25-q31 2008-07-18 2004-11-15 ENSG00000116690 ENSG00000116690 10216.0 10216.0 9364.0 protein-coding gene gene with protein product """lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )""" 604283 """proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)""" CACP 10545950, 9920774 Standard NM_005807 NM_005807 Approved JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635 uc001gru.4 Q92954 OTTHUMG00000035574 ENST00000445192.2:c.1515G>A 1.__UNKNOWN__:g.186276366G>A Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49 __UNKNOWN__ CCDS1369.1 PRG4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000086346.1 + ENST00000445192.2 Silent SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB SYT3 84258 broad.mit.edu 37 19 51135613 51135613 + Missense_Mutation SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr19:51135613G>A ENST00000338916.4 - 2.0 1237 c.604C>T c.(604-606)Ccc>Tcc p.P202S SYT3_ENST00000544769.1_Missense_Mutation_p.P202S|SYT3_ENST00000600079.1_Missense_Mutation_p.P202S|SYT3_ENST00000593901.1_Missense_Mutation_p.P202S NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 202.0 calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592) cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021) calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35.0 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) CCACTGGGGGGCAGCAGGAGC 0.652 0 43.0 47.0 45.0 19 51135613.0 2203.0 4300.0 6503.0 SO:0001583 missense AL136594 CCDS12798.1 19q13.33 2014-07-02 ENSG00000213023 ENSG00000213023 84258.0 84258.0 """Synaptotagmins""" 11511.0 protein-coding gene gene with protein product 600327 7749232 Standard NM_032298 NM_032298 Approved uc002psv.3 Q9BQG1 OTTHUMG00000183064 ENST00000338916.4:c.604C>T 19.__UNKNOWN__:g.51135613G>A ENSP00000340914:p.Pro202Ser Q8N5Z1|Q8N640 __UNKNOWN__ CCDS12798.1 . . . . . . . . . . G 7.929 0.740162 0.15642 . . ENSG00000213023 ENST00000338916;ENST00000544769 T;T 0.59224 0.28;0.28 5.24 4.13 0.48395 . 0.381343 0.18153 U 0.150006 T 0.36358 0.0964 L 0.27053 0.805 0.42761 D 0.993807 P 0.39809 0.689 B 0.33254 0.16 T 0.28902 -1.0029 10 0.06494 T 0.89 . 12.6345 0.56675 0.0:0.0:0.8337:0.1662 . 202 Q9BQG1 SYT3_HUMAN S 202 ENSP00000340914:P202S;ENSP00000438883:P202S ENSP00000340914:P202S P - 1 0 SYT3 55827425 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 3.110000 0.50352 2.605000 0.88082 0.655000 0.94253 CCC SYT3-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464910.1 - ENST00000338916.4 Missense_Mutation SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB GPR148 344561 broad.mit.edu 37 2 131486787 131486787 + Silent SNP C C T TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr2:131486787C>T ENST00000309926.4 + 1.0 145 c.63C>T c.(61-63)ctC>ctT p.L21L NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 21.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27.0 Colorectal(110;0.1) TGATCCAGCTCATCAGCAAGA 0.612 0 99.0 97.0 97.0 2 131486787.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AY255532 CCDS2163.1 2q21.2 2012-08-21 ENSG00000173302 ENSG00000173302 344561.0 344561.0 """GPCR / Class A : Orphans""" 23623.0 protein-coding gene gene with protein product 12679517 Standard XM_293092 NM_207364 Approved PGR6 uc002trv.2 Q8TDV2 OTTHUMG00000131655 ENST00000309926.4:c.63C>T 2.__UNKNOWN__:g.131486787C>T Q2M369|Q86SP7|Q86U87 __UNKNOWN__ CCDS2163.1 GPR148-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254552.3 + ENST00000309926.4 Silent SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB THBS1 7057 broad.mit.edu 37 15 39885298 39885298 + Silent SNP C C T rs139289744 byFrequency TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr15:39885298C>T ENST00000260356.5 + 18.0 3030 c.2865C>T c.(2863-2865)acC>acT p.T955T NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 955.0 activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141) calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53.0 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) TCAGTGAGACCGATTTCCGCC 0.502 0 C 3,4397 6.2+/-15.9 0,3,2197 80.0 68.0 72.0 2865 -9.0 0.8 15 dbSNP_134 72.0 0,8594 0,0,4297 no coding-synonymous THBS1 NM_003246.2 0,3,6494 TT,TC,CC 0.0,0.0682,0.0231 955/1171 39885298.0 3,12991 2200.0 4297.0 6497.0 SO:0001819 synonymous_variant CCDS32194.1 15q15 2009-04-08 ENSG00000137801 ENSG00000137801 7057.0 7057.0 11785.0 protein-coding gene gene with protein product """thrombospondin-1p180""" 188060 2341158, 2335352 Standard NM_003246 NM_003246 Approved TSP1, THBS, TSP, THBS-1, TSP-1 uc001zkh.3 P07996 OTTHUMG00000133665 ENST00000260356.5:c.2865C>T 15.__UNKNOWN__:g.39885298C>T A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99 __UNKNOWN__ CCDS32194.1 THBS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257831.2 + ENST00000260356.5 Silent SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB USP25 29761 ucsc.edu 37 21 17199472 17199472 + Missense_Mutation SNP T T C TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr21:17199472T>C ENST00000285679.6 + 14.0 2012 c.1643T>C c.(1642-1644)cTg>cCg p.L548P USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Missense_Mutation_p.L548P|USP25_ENST00000400183.2_Missense_Mutation_p.L548P NM_013396.3 NP_037528.3 Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 548.0 USP. cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|nucleus (GO:0005634) peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843) breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2) 52.0 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) CTTTCTGTGCTGGAAAGTTGT 0.448 0 91.0 83.0 86.0 21 17199472.0 2203.0 4300.0 6503.0 SO:0001583 missense AF170562 CCDS33515.1, CCDS63336.1, CCDS63337.1 21q11.2 2011-02-24 2005-08-08 ENSG00000155313 ENSG00000155313 29761.0 29761.0 """Ubiquitin-specific peptidases""" 12624.0 protein-coding gene gene with protein product 604736 """ubiquitin specific protease 25""" 12838346, 10612803 Standard NM_013396 Approved USP21 uc002yjy.1 Q9UHP3 OTTHUMG00000074343 ENST00000285679.6:c.1643T>C 21.__UNKNOWN__:g.17199472T>C ENSP00000285679:p.Leu548Pro C0LSZ0|Q6DHZ9|Q9H9W1 __UNKNOWN__ CCDS33515.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 23.0|23.0 4.366084|4.366084 0.82463|0.82463 .|. .|. ENSG00000155313|ENSG00000155313 ENST00000285681;ENST00000285679;ENST00000400183|ENST00000453553 T;T;T|. 0.74737|. -0.87;-0.87;-0.87|. 4.6|4.6 4.6|4.6 0.57074|0.57074 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);|. 0.071789|. 0.56097|. D|. 0.000023|. T|T 0.70193|0.70193 0.3196|0.3196 L|L 0.61218|0.61218 1.895|1.895 0.80722|0.80722 D|D 1|1 D;D;D|. 0.76494|. 0.998;0.998;0.999|. D;D;D|. 0.91635|. 0.964;0.976;0.999|. T|T 0.70015|0.70015 -0.4988|-0.4988 10|5 0.62326|. D|. 0.03|. .|. 14.6953|14.6953 0.69118|0.69118 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. 548;548;548|. Q9UHP3-3;Q9UHP3-1;Q9UHP3|. .;.;UBP25_HUMAN|. P|R 548|77 ENSP00000285681:L548P;ENSP00000285679:L548P;ENSP00000383044:L548P|. ENSP00000285679:L548P|. L|W +|+ 2|1 0|0 USP25|USP25 16121343|16121343 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.960000|0.960000 0.62799|0.62799 7.655000|7.655000 0.83696|0.83696 2.005000|2.005000 0.58758|0.58758 0.455000|0.455000 0.32223|0.32223 CTG|TGG USP25-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000157964.1 + ENST00000285679.6 Missense_Mutation SNP PCPG-TCGA-W2-A7HA-Normal-SM-5EMMB RP11-248G5.8 0 broad.mit.edu 37 13 52855033 52855033 + RNA SNP A A G TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr13:52855033A>G ENST00000451298.1 - 0.0 396 GTCTTTTTAGATGAGCCAGAT 0.343 5.0 0.0023 2184.0 0.9989 , , 0.0004 0.01 0.0029 0.8741 LOWCOV 0.0017 SNP 0 ENST00000451298.1: 13.__UNKNOWN__:g.52855033A>G __UNKNOWN__ RP11-248G5.8-001 KNOWN basic|readthrough_transcript processed_transcript processed_transcript OTTHUMT00000471093.1 - ENST00000451298.1 RNA SNP PCPG-TCGA-W2-A7HB-Normal-SM-5EMLS HIST1H2BC 8347 broad.mit.edu 37 6 26123939 26123939 + Missense_Mutation SNP G G T TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr6:26123939G>T ENST00000314332.5 - 1.0 199 c.194C>A c.(193-195)tCt>tAt p.S65Y HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S65Y P62807 H2B1C_HUMAN histone cluster 1, H2bc 65.0 antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634) DNA binding (GO:0003677) p.S65Y(1) NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 16.0 GTTAACGAAAGAATTCATGAT 0.562 1 Substitution - Missense(1) large_intestine(1) 161.0 152.0 155.0 6 26123939.0 2203.0 4300.0 6503.0 SO:0001583 missense Z80783 CCDS4584.1 6p22.1 2011-01-27 2006-10-11 2003-02-14 ENSG00000180596 ENSG00000180596 8347.0 8347.0 """Histones / Replication-dependent""" 4757.0 protein-coding gene gene with protein product 602847 """H2B histone family, member L"", ""histone 1, H2bc""" H2BFL 9119399, 12408966 Standard NM_003526 NM_003526 Approved H2B/l, H2B.1 uc003ngl.3 P62807 OTTHUMG00000014425 ENST00000314332.5:c.194C>A 6.__UNKNOWN__:g.26123939G>T ENSP00000321744:p.Ser65Tyr P02278|Q3B872|Q4VB69|Q93078|Q93080 __UNKNOWN__ CCDS4584.1 . . . . . . . . . . . 21.1 4.093851 0.76870 . . ENSG00000180596 ENST00000314332;ENST00000396984 T;T 0.71103 -0.54;-0.54 5.61 5.61 0.85477 Histone-fold (2);Histone core (1); . . . . D 0.83640 0.5298 . . . 0.46279 D 0.998964 D 0.89917 1.0 D 0.85130 0.997 D 0.84829 0.0801 8 0.87932 D 0 . 18.9929 0.92801 0.0:0.0:1.0:0.0 . 65 P62807 H2B1C_HUMAN Y 65 ENSP00000321744:S65Y;ENSP00000380180:S65Y ENSP00000321744:S65Y S - 2 0 HIST1H2BC 26231918 1.000000 0.71417 0.993000 0.49108 0.146000 0.21551 7.708000 0.84633 2.799000 0.96334 0.650000 0.86243 TCT HIST1H2BC-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000468022.1 - ENST00000314332.5 Missense_Mutation SNP PCPG-TCGA-W2-A7HB-Normal-SM-5EMLS OR10G4 390264 broad.mit.edu 37 11 123887115 123887115 + Silent SNP G G A TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr11:123887115G>A ENST00000320891.4 + 1.0 834 c.834G>A c.(832-834)ctG>ctA p.L278L NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 278.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48.0 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) ACACTGTGCTGACGCCCCTTC 0.473 0 109.0 94.0 99.0 11 123887115.0 2201.0 4299.0 6500.0 SO:0001819 synonymous_variant AB065757 CCDS31702.1 11q24.1 2012-08-09 ENSG00000254737 ENSG00000254737 390264.0 390264.0 """GPCR / Class A : Olfactory receptors""" 14809.0 protein-coding gene gene with protein product Standard NM_001004462 NM_001004462 Approved uc010sac.2 Q8NGN3 OTTHUMG00000165966 ENST00000320891.4:c.834G>A 11.__UNKNOWN__:g.123887115G>A Q6IEW0 __UNKNOWN__ CCDS31702.1 OR10G4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387268.1 + ENST00000320891.4 Silent SNP PCPG-TCGA-W2-A7HB-Normal-SM-5EMLS KDM5A 5927 broad.mit.edu 37 12 464375 464375 + Silent SNP G G A TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr12:464375G>A ENST00000399788.2 - 7.0 1181 c.819C>T c.(817-819)gaC>gaT p.D273D KDM5A_ENST00000382815.4_Silent_p.D273D NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 273.0 chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77.0 TGTTAAATGCGTCTGACCTGT 0.373 T NUP98 AML Dom yes 12 12p11 5927.0 """lysine (K)-specific demethylase 5A, JARID1A""" L 0 G 0,3736 0,0,1868 141.0 133.0 136.0 819 -2.0 1.0 12 136.0 1,8199 0,1,4099 no coding-synonymous KDM5A NM_001042603.1 0,1,5967 AA,AG,GG 0.0122,0.0,0.0084 273/1691 464375.0 1,11935 1868.0 4100.0 5968.0 SO:0001819 synonymous_variant CCDS41736.1 12p13.33 2013-01-28 2009-04-06 2009-04-06 ENSG00000073614 ENSG00000073614 5927.0 5927.0 """Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type""" 9886.0 protein-coding gene gene with protein product 180202 """retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A""" RBBP2, JARID1A 1857421 Standard NM_005056 NM_001042603 Approved uc001qif.1 P29375 OTTHUMG00000168055 ENST00000399788.2:c.819C>T 12.__UNKNOWN__:g.464375G>A A8MV76|Q4LE72|Q86XZ1 __UNKNOWN__ CCDS41736.1 KDM5A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000397812.1 - ENST00000399788.2 Silent SNP PCPG-TCGA-W2-A7HB-Normal-SM-5EMLS AFF4 27125 broad.mit.edu 37 5 132272835 132272835 + Missense_Mutation SNP C C T TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr5:132272835C>T ENST00000265343.5 - 2.0 426 c.47G>A c.(46-48)aGg>aAg p.R16K AFF4_ENST00000378595.3_Missense_Mutation_p.R16K|AFF4_ENST00000491831.1_5'UTR NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 16.0 spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366) mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327) sequence-specific DNA binding transcription factor activity (GO:0003700) SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43.0 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTGATTCCGCCTTTCCCGTTC 0.433 Ovarian(126;889 1733 2942 10745 11605) 0 90.0 73.0 79.0 5 132272835.0 2203.0 4300.0 6503.0 SO:0001583 missense AF197927 CCDS4164.1 5q31 2006-04-28 ENSG00000072364 ENSG00000072364 27125.0 27125.0 17869.0 protein-coding gene gene with protein product """ALL1 fused gene from 5q31""" 604417 10588740 Standard NM_014423 XM_005271963 Approved AF5Q31, MCEF uc003kyd.3 Q9UHB7 OTTHUMG00000059838 ENST00000265343.5:c.47G>A 5.__UNKNOWN__:g.132272835C>T ENSP00000265343:p.Arg16Lys B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4 __UNKNOWN__ CCDS4164.1 . . . . . . . . . . C 36 5.726126 0.96847 . . ENSG00000072364 ENST00000265343;ENST00000378595;ENST00000421773 T;T;T 0.77358 -1.09;-1.09;-1.09 5.73 5.73 0.89815 . 0.000000 0.85682 D 0.000000 D 0.89350 0.6690 M 0.84082 2.675 0.80722 D 1 D;D;D 0.61697 0.959;0.99;0.979 D;D;D 0.74023 0.937;0.979;0.982 D 0.89164 0.3532 10 0.52906 T 0.07 -16.3092 19.8978 0.96973 0.0:1.0:0.0:0.0 . 16;16;16 Q9UHB7-3;Q9UHB7-2;Q9UHB7 .;.;AFF4_HUMAN K 16 ENSP00000265343:R16K;ENSP00000367858:R16K;ENSP00000395268:R16K ENSP00000265343:R16K R - 2 0 AFF4 132300734 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.440000 0.80464 2.703000 0.92315 0.557000 0.71058 AGG AFF4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000133049.1 - ENST00000265343.5 Missense_Mutation SNP PCPG-TCGA-W2-A7HB-Normal-SM-5EMLS MED30 90390 broad.mit.edu 37 8 118533175 118533175 + Missense_Mutation SNP G G C TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr8:118533175G>C ENST00000297347.3 + 1.0 224 c.60G>C c.(58-60)caG>caC p.Q20H MED30_ENST00000522839.1_Missense_Mutation_p.Q20H NM_080651.2 NP_542382.1 Q96HR3 MED30_HUMAN mediator complex subunit 30 20.0 androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367) mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809) kidney(1)|lung(3)|prostate(3) 7.0 all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163) STAD - Stomach adenocarcinoma(47;0.0266) CCGGGCCCCAGGCTCAGCAGG 0.706 Melanoma(81;817 1341 9674 26244 29255) 0 13.0 14.0 14.0 8 118533175.0 2182.0 4271.0 6453.0 SO:0001583 missense AY083305 CCDS6323.1, CCDS64959.1 8q24.11 2007-07-30 2007-07-30 2007-07-30 ENSG00000164758 ENSG00000164758 90390.0 90390.0 23032.0 protein-coding gene gene with protein product 610237 """thyroid hormone receptor associated protein 6""" THRAP6 Standard NM_080651 NM_080651 Approved TRAP25 uc003yoj.3 Q96HR3 OTTHUMG00000164920 ENST00000297347.3:c.60G>C 8.__UNKNOWN__:g.118533175G>C ENSP00000297347:p.Gln20His C6GKU9 __UNKNOWN__ CCDS6323.1 . . . . . . . . . . G 16.61 3.170369 0.57584 . . ENSG00000164758 ENST00000297347;ENST00000522839 . . . 5.52 1.3 0.21679 . 0.111534 0.64402 D 0.000007 T 0.46737 0.1408 L 0.47716 1.5 0.58432 D 0.999998 P;D 0.56521 0.932;0.976 P;P 0.47528 0.549;0.549 T 0.36866 -0.9730 9 0.45353 T 0.12 -8.9446 8.5281 0.33317 0.4227:0.0:0.5773:0.0 . 20;20 C6GKU9;Q96HR3 .;MED30_HUMAN H 20 . ENSP00000297347:Q20H Q + 3 2 MED30 118602356 1.000000 0.71417 0.996000 0.52242 0.899000 0.52679 1.901000 0.39838 0.313000 0.23062 0.563000 0.77884 CAG MED30-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000380923.1 + ENST00000297347.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HB-Normal-SM-5EMLS LIN7A 8825 broad.mit.edu 37 12 81239549 81239549 + Missense_Mutation SNP C C T TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr12:81239549C>T ENST00000552864.1 - 4.0 645 c.443G>A c.(442-444)gGc>gAc p.G148D NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 148.0 PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}. exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489) basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923) L27 domain binding (GO:0097016) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15.0 TCTTTTGAGGCCTCCGTGTCT 0.438 0 78.0 78.0 78.0 12 81239549.0 2203.0 4300.0 6503.0 SO:0001583 missense AF028826 CCDS9021.1 12q21.31 2014-09-04 ENSG00000111052 ENSG00000111052 8825.0 8825.0 17787.0 protein-coding gene gene with protein product """mammalian LIN-7 1""" 603380 10341223, 17237226 Standard NM_004664 Approved MALS-1, TIP-33, LIN-7A, VELI1 uc001szj.1 O14910 OTTHUMG00000170168 ENST00000552864.1:c.443G>A 12.__UNKNOWN__:g.81239549C>T ENSP00000447488:p.Gly148Asp A4FTY3|Q147W1|Q6LES3|Q7LDS4 __UNKNOWN__ CCDS9021.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 19.95|19.95 3.921323|3.921323 0.73213|0.73213 .|. .|. ENSG00000111052|ENSG00000111052 ENST00000552093|ENST00000552864;ENST00000549417 .|T;T .|0.38887 .|2.04;1.11 5.27|5.27 5.27|5.27 0.74061|0.74061 .|PDZ/DHR/GLGF (4); .|0.000000 .|0.85682 .|D .|0.000000 T|T 0.53594|0.53594 0.1806|0.1806 N|N 0.26130|0.26130 0.795|0.795 0.80722|0.80722 D|D 1|1 .|D .|0.67145 .|0.996 .|D .|0.70487 .|0.969 T|T 0.57248|0.57248 -0.7844|-0.7844 5|10 .|0.66056 .|D .|0.02 -9.3068|-9.3068 19.2615|19.2615 0.93970|0.93970 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|148 .|O14910 .|LIN7A_HUMAN T|D 114|148;142 .|ENSP00000447488:G148D;ENSP00000448975:G142D .|ENSP00000448975:G142D A|G -|- 1|2 0|0 LIN7A|LIN7A 79763680|79763680 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.399000|0.399000 0.30720|0.30720 7.776000|7.776000 0.85560|0.85560 2.614000|2.614000 0.88457|0.88457 0.655000|0.655000 0.94253|0.94253 GCC|GGC LIN7A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407760.1 - ENST00000552864.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HB-Normal-SM-5EMLS SPTB 6710 broad.mit.edu 37 14 65237650 65237650 + Silent SNP G G A TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr14:65237650G>A ENST00000556626.1 - 27.0 5893 c.5751C>T c.(5749-5751)tcC>tcT p.S1917S SPTB_ENST00000542895.1_Silent_p.S1917S|SPTB_ENST00000389720.3_Silent_p.S1917S|SPTB_ENST00000389722.3_Silent_p.S1917S|SPTB_ENST00000389721.5_Silent_p.S1917S P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1917.0 actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779) actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200) 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) 106.0 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) TCTCCATCCAGGAGAGGAGGT 0.652 0 53.0 55.0 55.0 14 65237650.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS32099.1, CCDS32100.1 14q24.1-q24.2 2013-01-10 2008-07-29 ENSG00000070182 6710.0 6710.0 """Pleckstrin homology (PH) domain containing""" 11274.0 protein-coding gene gene with protein product """spherocytosis, clinical type I""" 182870 2209094 Standard NM_001024858 Approved uc001xhr.3 P11277 ENST00000556626.1:c.5751C>T 14.__UNKNOWN__:g.65237650G>A Q15510|Q15519 __UNKNOWN__ CCDS32099.1 SPTB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000414076.1 - ENST00000556626.1 Silent SNP PCPG-TCGA-W2-A7HB-Normal-SM-5EMLS MAPK6 5597 broad.mit.edu 37 15 52339183 52339183 + Missense_Mutation SNP C C T TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr15:52339183C>T ENST00000261845.5 + 2.0 1333 c.526C>T c.(526-528)Cgg>Tgg p.R176W NM_002748.3 NP_002739.1 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 176.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674) breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20.0 all cancers(107;0.0028) TGGTCTTGCACGGATCATGGA 0.383 0 92.0 93.0 93.0 15 52339183.0 2177.0 4278.0 6455.0 SO:0001583 missense L77964 CCDS10147.1 15q21 2011-06-10 ENSG00000069956 ENSG00000069956 5597.0 5597.0 """Mitogen-activated protein kinase cascade / Kinases""" 6879.0 protein-coding gene gene with protein product 602904 PRKM6 8875998 Standard NM_002748 NM_002748 Approved ERK3, p97MAPK, HsT17250 uc002abp.3 Q16659 OTTHUMG00000131891 ENST00000261845.5:c.526C>T 15.__UNKNOWN__:g.52339183C>T ENSP00000261845:p.Arg176Trp B2R945|B5BU65|Q68DH4|Q8IYN8 __UNKNOWN__ CCDS10147.1 . . . . . . . . . . C 19.33 3.806578 0.70682 . . ENSG00000069956 ENST00000261845 T 0.68025 -0.3 5.53 4.6 0.57074 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.74974 0.3787 H 0.95114 3.625 0.80722 D 1 B 0.30741 0.293 B 0.22386 0.039 T 0.80830 -0.1207 10 0.87932 D 0 -2.9694 14.8169 0.70041 0.0:0.9295:0.0:0.0705 . 176 Q16659 MK06_HUMAN W 176 ENSP00000261845:R176W ENSP00000261845:R176W R + 1 2 MAPK6 50126475 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 3.882000 0.56160 2.636000 0.89361 0.650000 0.86243 CGG MAPK6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254841.2 + ENST00000261845.5 Missense_Mutation SNP PCPG-TCGA-W2-A7HB-Normal-SM-5EMLS ATP1B4 23439 broad.mit.edu 37 X 119505020 119505020 + Missense_Mutation SNP G G C TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chrX:119505020G>C ENST00000218008.3 + 4.0 574 c.517G>C c.(517-519)Gac>Cac p.D173H ATP1B4_ENST00000539306.1_Missense_Mutation_p.D130H|ATP1B4_ENST00000361319.3_Missense_Mutation_p.D169H NM_001142447.2 NP_001135919.1 Q9UN42 AT1B4_HUMAN ATPase, Na+/K+ transporting, beta 4 polypeptide 173.0 monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890) monovalent inorganic cation transmembrane transporter activity (GO:0015077) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 33.0 TTCTGAACCCGACACTTGGCA 0.428 0 129.0 107.0 115.0 X 119505020.0 2203.0 4300.0 6503.0 SO:0001583 missense AF158383 CCDS14598.1, CCDS48158.1 Xq24 2012-10-22 2010-04-20 ENSG00000101892 ENSG00000101892 23439.0 23439.0 """ATPases / P-type""" 808.0 protein-coding gene gene with protein product """Na,K-ATPase beta m-subunit""" """ATPase, (Na+)/K+ transporting, beta 4 polypeptide""" 10456317, 17592128 Standard NM_001142447 NM_012069 Approved uc004esr.3 Q9UN42 OTTHUMG00000022299 ENST00000218008.3:c.517G>C X.__UNKNOWN__:g.119505020G>C ENSP00000218008:p.Asp173His Q17RR0|Q9UN41 __UNKNOWN__ CCDS48158.1 . . . . . . . . . . G 12.93 2.085970 0.36758 . . ENSG00000101892 ENST00000218008;ENST00000361319;ENST00000539306 T;T;T 0.30182 1.54;1.54;1.54 5.51 4.53 0.55603 . 0.225560 0.51477 D 0.000087 T 0.16599 0.0399 N 0.16903 0.455 0.31542 N 0.659784 B;B;B;B 0.14012 0.009;0.001;0.009;0.007 B;B;B;B 0.22386 0.039;0.013;0.039;0.023 T 0.05178 -1.0901 10 0.41790 T 0.15 -10.9426 3.907 0.09186 0.2725:0.0:0.7275:0.0 . 130;138;173;169 B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2 .;.;AT1B4_HUMAN;. H 173;169;130 ENSP00000218008:D173H;ENSP00000355346:D169H;ENSP00000443334:D130H ENSP00000218008:D173H D + 1 0 ATP1B4 119389048 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 4.807000 0.62576 2.293000 0.77203 0.544000 0.68410 GAC ATP1B4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000058095.1 + ENST00000218008.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HB-Normal-SM-5EMLS HTT 3064 broad.mit.edu 37 4 3237362 3237362 + Missense_Mutation SNP G G T TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr4:3237362G>T ENST00000355072.5 + 63.0 8787 c.8642G>T c.(8641-8643)gGc>gTc p.G2881V NM_002111.6 NP_002102 P42858 HD_HUMAN huntingtin 2881.0 anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542) autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234) beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134) 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) 87.0 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GCCCTCAGAGGCCTGGAGCGC 0.597 0 41.0 46.0 44.0 4 3237362.0 2104.0 4212.0 6316.0 SO:0001583 missense L12392 CCDS43206.1 4p16.3 2014-09-17 2007-12-04 2007-12-04 ENSG00000197386 ENSG00000197386 3064.0 3064.0 """Endogenous ligands""" 4851.0 protein-coding gene gene with protein product 613004 """huntingtin (Huntington disease)""" HD 8458085 Standard NM_002111 NM_002111 Approved IT15 uc021xkv.1 P42858 OTTHUMG00000159916 ENST00000355072.5:c.8642G>T 4.__UNKNOWN__:g.3237362G>T ENSP00000347184:p.Gly2881Val Q9UQB7 __UNKNOWN__ CCDS43206.1 . . . . . . . . . . G 23.8 4.453972 0.84209 . . ENSG00000197386 ENST00000355072 T 0.69040 -0.37 4.51 4.51 0.55191 . 0.000000 0.85682 D 0.000000 D 0.82449 0.5039 M 0.81341 2.54 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.85375 0.1116 10 0.87932 D 0 . 16.7442 0.85467 0.0:0.0:1.0:0.0 . 2881 P42858 HD_HUMAN V 2881 ENSP00000347184:G2881V ENSP00000347184:G2881V G + 2 0 HTT 3207160 1.000000 0.71417 0.995000 0.50966 0.897000 0.52465 9.208000 0.95075 2.502000 0.84385 0.462000 0.41574 GGC HTT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000358234.2 + ENST00000355072.5 Missense_Mutation SNP PCPG-TCGA-W2-A7HB-Normal-SM-5EMLS FAM167A 83648 broad.mit.edu 37 8 11282013 11282013 + Nonsense_Mutation SNP C C A TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr8:11282013C>A ENST00000528897.1 - 3.0 1133 c.514G>T c.(514-516)Gag>Tag p.E172* C8orf12_ENST00000529305.1_Intron|FAM167A_ENST00000284486.4_Nonsense_Mutation_p.E172*|FAM167A_ENST00000531564.1_5'UTR|FAM167A_ENST00000534308.1_Nonsense_Mutation_p.E172*|C8orf12_ENST00000284481.3_Intron Q96KS9 F167A_HUMAN family with sequence similarity 167, member A 172.0 breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1) 9.0 TCCCGCTCCTCCAGCTCGTAG 0.577 0 186.0 132.0 150.0 8 11282013.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained CCDS5981.1 8p23-p22 2010-08-27 2008-06-11 2008-06-11 ENSG00000154319 ENSG00000154319 83648.0 83648.0 15549.0 protein-coding gene gene with protein product 610085 """chromosome 8 open reading frame 13""" C8orf13 Standard NM_053279 Approved uc003wtw.2 Q96KS9 OTTHUMG00000129361 ENST00000528897.1:c.514G>T 8.__UNKNOWN__:g.11282013C>A ENSP00000436655:p.Glu172* A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0 __UNKNOWN__ CCDS5981.1 . . . . . . . . . . C 41 8.775364 0.98950 . . ENSG00000154319 ENST00000284486;ENST00000534308;ENST00000528897 . . . 5.04 5.04 0.67666 . 0.116585 0.56097 D 0.000022 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.87932 D 0 -4.2231 17.6189 0.88075 0.0:1.0:0.0:0.0 . . . . X 172 . ENSP00000284486:E172X E - 1 0 FAM167A 11319423 1.000000 0.71417 1.000000 0.80357 0.879000 0.50718 5.502000 0.66956 2.627000 0.88993 0.650000 0.86243 GAG FAM167A-003 PUTATIVE alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000383901.1 - ENST00000528897.1 Nonsense_Mutation SNP PCPG-TCGA-W2-A7HB-Normal-SM-5EMLS BARHL1 56751 broad.mit.edu 37 9 135458232 135458232 + Silent SNP C C T TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr9:135458232C>T ENST00000263610.2 + 1.0 661 c.48C>T c.(46-48)cgC>cgT p.R16R BARHL1_ENST00000542090.1_Silent_p.R16R NM_020064.3 NP_064448.1 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 16.0 midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565) cervix(1)|large_intestine(2)|lung(2)|skin(3) 8.0 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) TCTCCCACCGCGCGGGCAGCC 0.657 0 53.0 56.0 55.0 9 135458232.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AJ237816 CCDS6950.1 9q34.13 2011-06-20 2007-07-09 ENSG00000125492 ENSG00000125492 56751.0 56751.0 """Homeoboxes / ANTP class : NKL subclass""" 953.0 protein-coding gene gene with protein product 605211 """BarH (Drosophila)-like 1""" Standard NM_020064 Approved uc004cbp.1 Q9BZE3 OTTHUMG00000020839 ENST00000263610.2:c.48C>T 9.__UNKNOWN__:g.135458232C>T Q5T6V2|Q9NY88 __UNKNOWN__ CCDS6950.1 BARHL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054789.2 + ENST00000263610.2 Silent SNP PCPG-TCGA-W2-A7HB-Normal-SM-5EMLS DBF4 10926 broad.mit.edu 37 7 87514300 87514302 + In_Frame_Del DEL GAA GAA - TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr7:87514300_87514302delGAA ENST00000265728.1 + 3.0 730_732 c.226_228delGAA c.(226-228)gaadel p.E77del NM_006716.3 NP_006707.1 Q9UBU7 DBF4A_HUMAN DBF4 zinc finger 77.0 BRCT 1. DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085) nucleoplasm (GO:0005654) enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28.0 Esophageal squamous(14;0.00202) Breast(660;0.0334) CTAGCGAGTTGAAGAATTTCTCA 0.35 0 SO:0001651 inframe_deletion AF160876 CCDS5611.1 7q21.3 2014-02-17 2014-02-17 ENSG00000006634 ENSG00000006634 10926.0 10926.0 """Zinc fingers, DBF-type""" 17364.0 protein-coding gene gene with protein product """activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A""" 604281 """DBF4 homolog (S. cerevisiae)""" 10373557, 10517317 Standard NM_006716 NM_006716 Approved ASK, chif, ZDBF1, DBF4A uc003ujf.1 Q9UBU7 OTTHUMG00000131034 ENST00000265728.1:c.226_228delGAA 7.__UNKNOWN__:g.87514303_87514305delGAA ENSP00000265728:p.Glu77del A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6 __UNKNOWN__ CCDS5611.1 DBF4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253678.1 + ENST00000265728.1 In_Frame_Del DEL PCPG-TCGA-W2-A7HB-Normal-SM-5EMLS IGHV3OR16-13 100287372 bcgsc.ca 37 16 33630067 33630067 + RNA SNP C C A TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr16:33630067C>A ENST00000562905.2 + 0.0 292 immunoglobulin heavy variable 3/OR16-13 (non-functional) TAAGAACACGCTGTATCTGCA 0.478 0 Z29610 16p11.2 2013-12-06 2008-09-11 ENSG00000271178 ENSG00000271178 100287372.0 100287372.0 """Immunoglobulins / IGH orphons""" 5637.0 other immunoglobulin gene """immunoglobulin heavy variable 3/OR16-13""" Standard NG_011771 NG_011771 Approved IGHV3/OR16-13 OTTHUMG00000176357 ENST00000562905.2: 16.__UNKNOWN__:g.33630067C>A __UNKNOWN__ IGHV3OR16-13-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene IG_V_gene OTTHUMT00000431815.2 + ENST00000562905.2 RNA SNP PCPG-TCGA-W2-A7HB-Normal-SM-5EMLS EML5 161436 ucsc.edu 37 14 89082171 89082171 + Silent SNP T T C TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr14:89082171T>C ENST00000554922.1 - 44.0 6173 c.5925A>G c.(5923-5925)acA>acG p.T1975T EML5_ENST00000380664.5_Silent_p.T1967T|EML5_ENST00000352093.5_Silent_p.T1929T NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1967.0 cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874) catalytic activity (GO:0003824) breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50.0 CTCAGTGAGGTGTATGTACAC 0.358 0 104.0 91.0 95.0 14 89082171.0 1848.0 4095.0 5943.0 SO:0001819 synonymous_variant AY357725 CCDS45148.1 14q31.3 2013-01-10 ENSG00000165521 161436.0 161436.0 """WD repeat domain containing""" 18197.0 protein-coding gene gene with protein product Standard NM_183387 Approved HuEMAP-2, EMAP-2 uc021ryf.1 Q05BV3 ENST00000554922.1:c.5925A>G 14.__UNKNOWN__:g.89082171T>C B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03 __UNKNOWN__ CCDS45148.1 EML5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000410488.2 - ENST00000554922.1 Silent SNP PCPG-TCGA-W2-A7HB-Normal-SM-5EMLS KLHL22 84861 ucsc.edu 37 22 20819476 20819476 + Missense_Mutation SNP G G T TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr22:20819476G>T ENST00000328879.4 - 4.0 937 c.781C>A c.(781-783)Ctg>Atg p.L261M KLHL22_ENST00000440659.2_Missense_Mutation_p.L118M NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 261.0 cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513) centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20.0 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) CTGGGGTCCAGCTTGTCATGC 0.637 0 32.0 30.0 31.0 22 20819476.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS13780.1 22q11.21 2013-01-30 2013-01-30 ENSG00000099910 ENSG00000099910 84861.0 84861.0 """Kelch-like"", ""BTB/POZ domain containing""" 25888.0 protein-coding gene gene with protein product """kelch-like 22 (Drosophila)""" 12477932 Standard NM_032775 NM_032775 Approved FLJ14360, KELCHL uc002zsl.2 Q53GT1 OTTHUMG00000150778 ENST00000328879.4:c.781C>A 22.__UNKNOWN__:g.20819476G>T ENSP00000331682:p.Leu261Met A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6 __UNKNOWN__ CCDS13780.1 . . . . . . . . . . G 18.25 3.583243 0.65992 . . ENSG00000099910 ENST00000328879;ENST00000440659;ENST00000451553;ENST00000444967 T;T;T;T 0.80214 -1.05;-1.35;-0.91;-0.77 5.42 5.42 0.78866 . 0.000000 0.64402 D 0.000001 T 0.77831 0.4189 N 0.08118 0 0.58432 D 0.999991 D;D 0.71674 0.998;0.998 D;D 0.83275 0.996;0.994 T 0.79398 -0.1820 10 0.48119 T 0.1 . 10.1848 0.42991 0.0905:0.0:0.9095:0.0 . 118;261 B7Z2G1;Q53GT1 .;KLH22_HUMAN M 261;118;184;293 ENSP00000331682:L261M;ENSP00000405521:L118M;ENSP00000400095:L184M;ENSP00000403999:L293M ENSP00000331682:L261M L - 1 2 KLHL22 19149476 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 2.324000 0.43831 2.531000 0.85337 0.655000 0.94253 CTG KLHL22-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320045.2 - ENST00000328879.4 Missense_Mutation SNP PCPG-TCGA-W2-A7HB-Normal-SM-5EMLS TRMT13 54482 ucsc.edu 37 1 100614362 100614362 + Nonsense_Mutation SNP G G T TCGA-W2-A7HB-01A-11D-A35I-08 TCGA-W2-A7HB-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 96444e23-d731-4c24-b5d0-8a697a0bf183 e99ae8f1-1162-48f6-ad7d-289880357334 g.chr1:100614362G>T ENST00000370141.2 + 11.0 1438 c.1432G>T c.(1432-1434)Gaa>Taa p.E478* NM_019083.2 NP_061956.2 Q9NUP7 TRM13_HUMAN tRNA methyltransferase 13 homolog (S. cerevisiae) 478.0 tRNA processing (GO:0008033) metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168) TTCATCACCAGAAACAACTGC 0.308 0 48.0 51.0 50.0 1 100614362.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained BC075811 CCDS765.1 1p21.2 2012-06-07 2012-06-07 2012-06-07 ENSG00000122435 ENSG00000122435 54482.0 54482.0 25502.0 protein-coding gene gene with protein product """coiled-coil domain containing 76""" CCDC76 11799066 Standard NM_019083 NM_019083 Approved FLJ10287, FLJ11219 uc001dsv.3 Q9NUP7 OTTHUMG00000010841 ENST00000370141.2:c.1432G>T 1.__UNKNOWN__:g.100614362G>T ENSP00000359160:p.Glu478* Q5VVL0|Q9NW65 __UNKNOWN__ CCDS765.1 . . . . . . . . . . G 10.63 1.403936 0.25291 . . ENSG00000122435 ENST00000370141 . . . 5.72 3.77 0.43336 . 0.875401 0.10076 N 0.719016 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.72032 D 0.01 -10.9459 11.3983 0.49856 0.0:0.1366:0.7211:0.1423 . . . . X 478 . ENSP00000359160:E478X E + 1 0 CCDC76 100386950 0.954000 0.32549 0.075000 0.20258 0.048000 0.14542 2.399000 0.44495 0.815000 0.34398 0.591000 0.81541 GAA TRMT13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000029919.1 + ENST00000370141.2 Nonsense_Mutation SNP PCPG-TCGA-W2-A7HB-Normal-SM-5EMLS TGOLN2 10618 broad.mit.edu 37 2 85554507 85554507 + Silent SNP C C T TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr2:85554507C>T ENST00000409232.3 - 2.0 409 c.348G>A c.(346-348)gcG>gcA p.A116A TGOLN2_ENST00000409015.1_Silent_p.A116A|TGOLN2_ENST00000398263.2_Silent_p.A116A|TGOLN2_ENST00000377386.3_Silent_p.A116A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.A116A O43493 TGON2_HUMAN trans-golgi network protein 2 116.0 14 X 14 AA tandem repeats. Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133) TTGTGGTCTGCGCCTCCGAAC 0.572 0 384.0 382.0 383.0 2 85554507.0 1999.0 4165.0 6164.0 SO:0001819 synonymous_variant AF027515 CCDS46351.1, CCDS56126.1, CCDS56127.1 2p11.2 2012-06-25 ENSG00000152291 ENSG00000152291 10618.0 10618.0 15450.0 protein-coding gene gene with protein product """trans-Golgi network protein (46, 48, 51kD isoforms)""" 603062 9422759, 21994457 Standard NM_006464 NM_001206840 Approved TGN51, TGN46, TGN48, TGN38, TTGN2 uc021vjw.1 O43493 OTTHUMG00000153017 ENST00000409232.3:c.348G>A 2.__UNKNOWN__:g.85554507C>T B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2 __UNKNOWN__ CCDS56126.1 TGOLN2-006 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000329045.2 - ENST00000409232.3 Silent SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr11:533874T>C ENST00000451590.1 - 3.0 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R NM_001130442.1|NM_005343.2 NP_001123914.1|NP_005334.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61.0 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022) p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901.0 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6.0 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) yes Dom yes Costello syndrome 11 11p15.5 3265.0 v-Ha-ras Harvey rat sarcoma viral oncogene homolog """E, L, M""" 256 Substitution - Missense(256) skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1) 117.0 102.0 107.0 11 533874.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Facio-Cutaneous-Skeletal syndrome AJ437024 CCDS7698.1, CCDS7699.1 11p15.5 2014-09-17 2013-07-08 ENSG00000174775 ENSG00000174775 3265.0 3265.0 5173.0 protein-coding gene gene with protein product 190020 """v-Ha-ras Harvey rat sarcoma viral oncogene homolog""" HRAS1 Standard NM_176795 NM_176795 Approved uc010qvx.2 P01112 OTTHUMG00000131919 ENST00000451590.1:c.182A>G 11.__UNKNOWN__:g.533874T>C ENSP00000407586:p.Gln61Arg B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2 __UNKNOWN__ CCDS7698.1 . . . . . . . . . . T 14.48 2.546606 0.45383 . . ENSG00000174775 ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189 D;D;D;D;D 0.83673 -1.75;-1.75;-1.75;-1.75;-1.75 3.64 3.64 0.41730 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85613 0.5737 M 0.90870 3.155 0.80722 D 1 B;B 0.21071 0.051;0.008 B;B 0.22152 0.022;0.038 D 0.85970 0.1476 10 0.66056 D 0.02 . 11.8872 0.52608 0.0:0.0:0.0:1.0 . 61;61 P01112-2;P01112 .;RASH_HUMAN R 61 ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R ENSP00000309845:Q61R Q - 2 0 HRAS 523874 1.000000 0.71417 0.985000 0.45067 0.482000 0.33219 7.727000 0.84838 1.662000 0.50781 0.459000 0.35465 CAG HRAS-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259403.2 - ENST00000451590.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 PSG11 5680 broad.mit.edu 37 19 43528993 43528993 + Missense_Mutation SNP C C T TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr19:43528993C>T ENST00000401740.1 - 2.0 383 c.280G>A c.(280-282)Gca>Aca p.A94T PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T|PSG11_ENST00000306322.7_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 11 94.0 Ig-like V-type. female pregnancy (GO:0007565) extracellular region (GO:0005576) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26.0 Prostate(69;0.00682) CCACTGTATGCCGGTCCATAT 0.443 0 247.0 230.0 236.0 19 43528993.0 2199.0 4298.0 6497.0 SO:0001583 missense U25988 CCDS12614.2, CCDS12615.2 19q13.2 2013-01-29 ENSG00000243130 ENSG00000243130 5680.0 5680.0 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 9516.0 protein-coding gene gene with protein product """pregnancy specific beta-1-glycoprotein 13""" 176401 PSG13, PSG14 7794280 Standard NM_002785 NM_001113410 Approved MGC22484 uc002ovm.1 Q9UQ72 OTTHUMG00000151546 ENST00000401740.1:c.280G>A 19.__UNKNOWN__:g.43528993C>T ENSP00000384995:p.Ala94Thr B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73 __UNKNOWN__ CCDS12614.2 . . . . . . . . . . c 9.498 1.102465 0.20632 . . ENSG00000243130 ENST00000320078;ENST00000401740 T;T 0.66280 -0.2;-0.2 0.929 -1.86 0.07760 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1); . . . . T 0.64023 0.2561 M 0.80746 2.51 0.09310 N 1 B 0.25563 0.129 B 0.39904 0.313 T 0.63812 -0.6552 9 0.62326 D 0.03 . 2.5413 0.04726 0.0:0.4411:0.3119:0.247 . 94 Q9UQ72 PSG11_HUMAN T 94 ENSP00000319140:A94T;ENSP00000384995:A94T ENSP00000319140:A94T A - 1 0 PSG11 48220833 0.000000 0.05858 0.001000 0.08648 0.001000 0.01503 -0.352000 0.07701 -0.979000 0.03529 -1.140000 0.01884 GCA PSG11-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000323079.1 - ENST00000401740.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 TLN1 7094 broad.mit.edu 37 9 35700005 35700005 + Missense_Mutation SNP T T C TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr9:35700005T>C ENST00000314888.9 - 50.0 7087 c.6734A>G c.(6733-6735)aAt>aGt p.N2245S TLN1_ENST00000540444.1_Missense_Mutation_p.N2133S NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 2245.0 activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576) actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726) integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166) NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85.0 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CAGGTAGCCATTGGCACACTC 0.567 0 T SER/ASN 0,4406 0,0,2203 86.0 81.0 83.0 6734 5.4 1.0 9 83.0 1,8599 1.2+/-3.3 0,1,4299 no missense TLN1 NM_006289.3 46 0,1,6502 CC,CT,TT 0.0116,0.0,0.0077 benign 2245/2542 35700005.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AB028950 CCDS35009.1 9p23-p21 2008-02-05 ENSG00000137076 ENSG00000137076 7094.0 7094.0 11845.0 protein-coding gene gene with protein product 186745 TLN 7635475, 10610730 Standard NM_006289 NM_006289 Approved ILWEQ uc003zxt.2 Q9Y490 OTTHUMG00000019874 ENST00000314888.9:c.6734A>G 9.__UNKNOWN__:g.35700005T>C ENSP00000316029:p.Asn2245Ser A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3 __UNKNOWN__ CCDS35009.1 . . . . . . . . . . T 6.944 0.544053 0.13312 0.0 1.16E-4 ENSG00000137076 ENST00000314888;ENST00000540444 T;T 0.68181 -0.31;-0.3 5.37 5.37 0.77165 . 0.378995 0.29676 N 0.011490 T 0.38746 0.1052 N 0.08118 0 0.24732 N 0.993083 B 0.06786 0.001 B 0.04013 0.001 T 0.24083 -1.0170 10 0.09590 T 0.72 -16.2867 5.7532 0.18158 0.1501:0.0798:0.0:0.7701 . 2245 Q9Y490 TLN1_HUMAN S 2245;2133 ENSP00000316029:N2245S;ENSP00000442981:N2133S ENSP00000316029:N2245S N - 2 0 TLN1 35690005 0.759000 0.28416 1.000000 0.80357 0.998000 0.95712 1.144000 0.31565 2.035000 0.60131 0.533000 0.62120 AAT TLN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052353.2 - ENST00000314888.9 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 BARD1 580 broad.mit.edu 37 2 215593563 215593563 + Missense_Mutation SNP G G A TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr2:215593563G>A ENST00000260947.4 - 11.0 2305 c.2171C>T c.(2170-2172)gCg>gTg p.A724V BARD1_ENST00000432456.1_Missense_Mutation_p.A95V|BARD1_ENST00000449967.2_3'UTR NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1 NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 724.0 BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}. cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894) BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151) kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) 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) 35.0 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) ATCGGGTCTCGCATGGTATGC 0.498 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 0 154.0 119.0 131.0 2 215593563.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1 2q34-q35 2013-01-10 ENSG00000138376 ENSG00000138376 580.0 580.0 """Ankyrin repeat domain containing""" 952.0 protein-coding gene gene with protein product 601593 8944023, 9425226, 15159397 Standard NM_000465 NM_001282548 Approved uc002veu.2 Q99728 OTTHUMG00000133016 ENST00000260947.4:c.2171C>T 2.__UNKNOWN__:g.215593563G>A ENSP00000260947:p.Ala724Val F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5 __UNKNOWN__ CCDS2397.1 . . . . . . . . . . G 21.0 4.082668 0.76528 . . ENSG00000138376 ENST00000260947;ENST00000432456 T;T 0.77750 -1.12;1.76 5.81 5.81 0.92471 BRCT (3); 0.000000 0.85682 D 0.000000 D 0.86752 0.6008 L 0.53729 1.69 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.86783 0.1980 10 0.72032 D 0.01 -17.2398 20.0912 0.97820 0.0:0.0:1.0:0.0 . 724 Q99728 BARD1_HUMAN V 724;95 ENSP00000260947:A724V;ENSP00000405020:A95V ENSP00000260947:A724V A - 2 0 BARD1 215301808 1.000000 0.71417 0.871000 0.34182 0.076000 0.17211 9.434000 0.97515 2.746000 0.94184 0.591000 0.81541 GCG BARD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256602.1 - ENST00000260947.4 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 STK17B 9262 broad.mit.edu 37 2 197002362 197002362 + Missense_Mutation SNP A A G TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr2:197002362A>G ENST00000263955.4 - 8.0 1214 c.928T>C c.(928-930)Tcc>Ccc p.S310P STK17B_ENST00000409228.1_Missense_Mutation_p.S310P NM_004226.3 NP_004217.1 O94768 ST17B_HUMAN serine/threonine kinase 17b 310.0 Poly-Ser. apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468) actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10) 15.0 OV - Ovarian serous cystadenocarcinoma(117;0.141) GTTTGAGAGGAACTGGAAGTT 0.413 0 111.0 109.0 110.0 2 197002362.0 2203.0 4300.0 6503.0 SO:0001583 missense AB011421 CCDS2315.1 2q33.1 2008-02-05 2007-02-12 ENSG00000081320 ENSG00000081320 9262.0 9262.0 11396.0 protein-coding gene gene with protein product """death-associated protein kinase-related 2""" 604727 """serine/threonine kinase 17b (apoptosis-inducing)""" 9786912 Standard NM_004226 Approved DRAK2 uc002utk.3 O94768 OTTHUMG00000132735 ENST00000263955.4:c.928T>C 2.__UNKNOWN__:g.197002362A>G ENSP00000263955:p.Ser310Pro __UNKNOWN__ CCDS2315.1 . . . . . . . . . . A 7.623 0.677307 0.14841 . . ENSG00000081320 ENST00000263955;ENST00000409228 T;T 0.49139 0.79;0.79 4.84 0.993 0.19825 Protein kinase-like domain (1); 0.275586 0.26122 N 0.026203 T 0.20495 0.0493 N 0.08118 0 0.09310 N 0.99999 B 0.02656 0.0 B 0.01281 0.0 T 0.16276 -1.0408 10 0.16896 T 0.51 . 5.3557 0.16059 0.5684:0.2791:0.1525:0.0 . 310 O94768 ST17B_HUMAN P 310 ENSP00000263955:S310P;ENSP00000386853:S310P ENSP00000263955:S310P S - 1 0 STK17B 196710607 0.462000 0.25791 0.237000 0.24090 0.882000 0.50991 0.787000 0.26858 0.021000 0.15133 0.528000 0.53228 TCC STK17B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256092.2 - ENST00000263955.4 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 ST5 6764 broad.mit.edu 37 11 8752376 8752376 + Missense_Mutation SNP C C T TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr11:8752376C>T ENST00000534127.1 - 6.0 846 c.461G>A c.(460-462)cGt>cAt p.R154H ST5_ENST00000313726.6_Missense_Mutation_p.R154H|ST5_ENST00000530438.1_Intron|ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.R154H NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 154.0 positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851) Rab guanyl-nucleotide exchange factor activity (GO:0017112) NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39.0 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) GGTACCGGTACGGGTCAGCAA 0.682 0 29.0 36.0 34.0 11 8752376.0 2201.0 4294.0 6495.0 SO:0001583 missense U15131 CCDS7791.1, CCDS7792.1 11p15 2012-10-04 ENSG00000166444 6764.0 6764.0 """DENN/MADD domain containing""" 11350.0 protein-coding gene gene with protein product """DENN/MADD domain containing 2B""" 140750 1390339 Standard NM_005418 NM_005418 Approved HTS1, DENND2B, p126 uc001mgt.3 P78524 ENST00000534127.1:c.461G>A 11.__UNKNOWN__:g.8752376C>T ENSP00000433528:p.Arg154His B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6 __UNKNOWN__ CCDS7791.1 . . . . . . . . . . C 10.83 1.461882 0.26248 . . ENSG00000166444 ENST00000534127;ENST00000313726;ENST00000357665;ENST00000528523 T;T;T 0.22134 1.97;1.97;1.97 5.87 4.97 0.65823 . 0.601756 0.17850 N 0.159907 T 0.20577 0.0495 L 0.41824 1.3 0.33584 D 0.600213 B 0.09022 0.002 B 0.08055 0.003 T 0.11494 -1.0585 10 0.44086 T 0.13 -4.2695 15.046 0.71827 0.0:0.932:0.0:0.068 . 154 P78524 ST5_HUMAN H 154 ENSP00000433528:R154H;ENSP00000319678:R154H;ENSP00000350294:R154H ENSP00000319678:R154H R - 2 0 ST5 8708952 0.994000 0.37717 0.999000 0.59377 0.070000 0.16714 1.985000 0.40668 1.498000 0.48600 -0.140000 0.14226 CGT ST5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000386518.1 - ENST00000534127.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 PRICKLE2 166336 broad.mit.edu 37 3 64085509 64085509 + Missense_Mutation SNP C C T TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr3:64085509C>T ENST00000564377.1 - 9.0 1930 c.1921G>A c.(1921-1923)Gag>Aag p.E641K RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000295902.6_Missense_Mutation_p.E585K|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 585.0 establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175) apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634) zinc ion binding (GO:0008270) breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32.0 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) CTCAGCTTCTCAGACACATTC 0.562 0 142.0 145.0 144.0 3 64085509.0 2203.0 4300.0 6503.0 SO:0001583 missense AK127839 CCDS2902.1 3p14.3 2006-09-12 2006-09-12 ENSG00000163637 ENSG00000163637 166336.0 166336.0 20340.0 protein-coding gene gene with protein product 608501 """prickle-like 2 (Drosophila)""" 12525887 Standard NM_198859 NM_198859 Approved DKFZp686D143 uc003dmf.3 Q7Z3G6 OTTHUMG00000158789 ENST00000564377.1:c.1921G>A 3.__UNKNOWN__:g.64085509C>T ENSP00000455004:p.Glu641Lys Q0VF44 __UNKNOWN__ . . . . . . . . . . C 19.81 3.896043 0.72639 . . ENSG00000163637 ENST00000295902 T 0.68624 -0.34 5.62 5.62 0.85841 . 0.000000 0.64402 D 0.000001 T 0.64832 0.2634 L 0.58810 1.83 0.80722 D 1 P 0.41393 0.748 B 0.35182 0.197 T 0.70992 -0.4721 10 0.87932 D 0 -33.561 19.6573 0.95847 0.0:1.0:0.0:0.0 . 585 Q7Z3G6 PRIC2_HUMAN K 585 ENSP00000295902:E585K ENSP00000295902:E585K E - 1 0 PRICKLE2 64060549 1.000000 0.71417 0.959000 0.39883 0.989000 0.77384 7.613000 0.82986 2.655000 0.90218 0.591000 0.81541 GAG PRICKLE2-003 NOVEL not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000431928.1 - ENST00000564377.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 GTF3C1 2975 broad.mit.edu 37 16 27523078 27523078 + Missense_Mutation SNP T T C TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr16:27523078T>C ENST00000356183.4 - 7.0 1133 c.1118A>G c.(1117-1119)tAc>tGc p.Y373C GTF3C1_ENST00000561623.1_Missense_Mutation_p.Y373C NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 373.0 5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797) membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127) DNA binding (GO:0003677) 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) 80.0 ACTGAGGTCGTAGGTCTGTGT 0.507 0 182.0 138.0 153.0 16 27523078.0 2197.0 4300.0 6497.0 SO:0001583 missense U06485 CCDS32414.1, CCDS66988.1 16p12 2010-03-23 2002-08-29 ENSG00000077235 2975.0 2975.0 """General transcription factors""" 4664.0 protein-coding gene gene with protein product 603246 """general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )""" 8164661, 8127861 Standard NM_001520 NM_001520 Approved TFIIIC220 uc002dov.2 Q12789 ENST00000356183.4:c.1118A>G 16.__UNKNOWN__:g.27523078T>C ENSP00000348510:p.Tyr373Cys B2RP21|Q12838|Q6DKN9|Q9Y4W9 __UNKNOWN__ CCDS32414.1 . . . . . . . . . . T 17.45 3.393673 0.62066 . . ENSG00000077235 ENST00000356183;ENST00000388971 T 0.54071 0.59 5.64 5.64 0.86602 . 0.000000 0.85682 D 0.000000 T 0.63414 0.2509 L 0.34521 1.04 0.46725 D 0.999171 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 T 0.66164 -0.5992 10 0.62326 D 0.03 -5.8257 15.5262 0.75910 0.0:0.0:0.0:1.0 . 373;373 Q12789;Q12789-3 TF3C1_HUMAN;. C 373;371 ENSP00000348510:Y373C ENSP00000348510:Y373C Y - 2 0 GTF3C1 27430579 1.000000 0.71417 1.000000 0.80357 0.512000 0.34134 4.313000 0.59160 2.146000 0.66826 0.528000 0.53228 TAC GTF3C1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000433856.1 - ENST00000356183.4 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 PKD1L1 168507 broad.mit.edu 37 7 47898432 47898432 + Missense_Mutation SNP C C A TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr7:47898432C>A ENST00000289672.2 - 27.0 4251 c.4201G>T c.(4201-4203)Gct>Tct p.A1401S NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1401.0 REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}. detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337) calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886) calcium channel activity (GO:0005262) 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) 142.0 TGGCCTTGAGCAAGGAGTGCC 0.488 0 72.0 69.0 70.0 7 47898432.0 2203.0 4300.0 6503.0 SO:0001583 missense AB061683 CCDS34633.1 7p12.3 2008-07-18 ENSG00000158683 ENSG00000158683 168507.0 168507.0 18053.0 protein-coding gene gene with protein product """polycystin-1L1""" 609721 11863367 Standard NM_138295 NM_138295 Approved PRO19563 uc003tny.2 Q8TDX9 OTTHUMG00000155649 ENST00000289672.2:c.4201G>T 7.__UNKNOWN__:g.47898432C>A ENSP00000289672:p.Ala1401Ser Q6UWK1 __UNKNOWN__ CCDS34633.1 . . . . . . . . . . C 8.334 0.827116 0.16749 . . ENSG00000158683 ENST00000289672 T 0.19532 2.14 4.52 1.13 0.20643 Egg jelly receptor, REJ-like (1); 1.847090 0.02601 N 0.101032 T 0.21468 0.0517 L 0.57536 1.79 0.09310 N 1 P 0.35383 0.498 B 0.33454 0.164 T 0.20042 -1.0287 10 0.22706 T 0.39 -3.248 6.0724 0.19897 0.0:0.5914:0.0:0.4086 . 1401 Q8TDX9 PK1L1_HUMAN S 1401 ENSP00000289672:A1401S ENSP00000289672:A1401S A - 1 0 PKD1L1 47864957 0.000000 0.05858 0.011000 0.14972 0.199000 0.23934 -1.150000 0.03178 0.290000 0.22444 0.543000 0.68304 GCT PKD1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340974.1 - ENST00000289672.2 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 ALPK1 80216 broad.mit.edu 37 4 113362081 113362081 + Missense_Mutation SNP A A T TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr4:113362081A>T ENST00000458497.1 + 15.0 3826 c.3547A>T c.(3547-3549)Acc>Tcc p.T1183S ALPK1_ENST00000504176.2_Missense_Mutation_p.T1105S|ALPK1_ENST00000177648.9_Missense_Mutation_p.T1183S NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1183.0 Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}. ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53.0 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) AGGTTGGGTAACCGGTAATGG 0.378 0 89.0 90.0 90.0 4 113362081.0 2203.0 4300.0 6503.0 SO:0001583 missense AY044164 CCDS3697.1, CCDS58923.1 4q26 2008-02-05 ENSG00000073331 ENSG00000073331 80216.0 80216.0 20917.0 protein-coding gene gene with protein product """lymphocyte alpha-kinase""" 607347 10021370, 10819331 Standard NM_025144 NM_025144 Approved Lak, FLJ22670, KIAA1527 uc003ian.4 Q96QP1 OTTHUMG00000132911 ENST00000458497.1:c.3547A>T 4.__UNKNOWN__:g.113362081A>T ENSP00000398048:p.Thr1183Ser B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201 __UNKNOWN__ CCDS3697.1 . . . . . . . . . . A 26.5 4.742648 0.89573 . . ENSG00000073331 ENST00000458497;ENST00000177648;ENST00000504176 T;T;T 0.13538 2.58;2.58;2.58 5.84 5.84 0.93424 MHCK/EF2 kinase (3);Protein kinase-like domain (1); 0.000000 0.85682 D 0.000000 T 0.30759 0.0775 L 0.46741 1.465 0.46981 D 0.999278 D;D;D 0.62365 0.969;0.991;0.989 P;D;D 0.66351 0.755;0.943;0.922 T 0.00989 -1.1489 10 0.66056 D 0.02 -12.2627 16.2159 0.82217 1.0:0.0:0.0:0.0 . 1105;1105;1183 F5H138;B4E3G1;Q96QP1 .;.;ALPK1_HUMAN S 1183;1183;1105 ENSP00000398048:T1183S;ENSP00000177648:T1183S;ENSP00000426044:T1105S ENSP00000177648:T1183S T + 1 0 ALPK1 113581530 1.000000 0.71417 0.999000 0.59377 0.813000 0.45954 8.219000 0.89770 2.243000 0.73865 0.533000 0.62120 ACC ALPK1-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256421.2 + ENST00000458497.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 RNF19A 25897 broad.mit.edu 37 8 101281047 101281047 + Missense_Mutation SNP A A G TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr8:101281047A>G ENST00000519449.1 - 6.0 1473 c.1157T>C c.(1156-1158)aTg>aCg p.M386T RNF19A_ENST00000341084.2_Missense_Mutation_p.M386T|RNF19A_ENST00000523255.1_5'UTR NM_001280539.1|NM_015435.3 NP_001267468.1|NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 386.0 microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567) centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30.0 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) GCCAATAATCATTGCAGGAAT 0.403 0 108.0 97.0 101.0 8 101281047.0 2203.0 4300.0 6503.0 SO:0001583 missense AB029316 CCDS6286.1 8q22 2013-10-03 2013-10-03 2007-08-20 ENSG00000034677 25897.0 25897.0 """RING-type (C3HC4) zinc fingers""" 13432.0 protein-coding gene gene with protein product 607119 """ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase""" RNF19 11237715, 10976766 Standard NM_015435 NM_183419 Approved dorfin, DKFZp566B1346 uc003yjj.1 Q9NV58 ENST00000519449.1:c.1157T>C 8.__UNKNOWN__:g.101281047A>G ENSP00000428968:p.Met386Thr A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1 __UNKNOWN__ CCDS6286.1 . . . . . . . . . . A 21.5 4.161748 0.78226 . . ENSG00000034677 ENST00000519449;ENST00000341084 D;D 0.84516 -1.86;-1.86 5.39 5.39 0.77823 . 0.000000 0.85682 D 0.000000 D 0.90092 0.6905 L 0.60845 1.875 0.80722 D 1 D 0.60160 0.987 D 0.66196 0.942 D 0.90751 0.4657 10 0.59425 D 0.04 . 15.0768 0.72082 1.0:0.0:0.0:0.0 . 386 Q9NV58 RN19A_HUMAN T 386 ENSP00000428968:M386T;ENSP00000342667:M386T ENSP00000342667:M386T M - 2 0 RNF19A 101350223 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 9.339000 0.96797 2.048000 0.60808 0.482000 0.46254 ATG RNF19A-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000380004.1 - ENST00000519449.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 ATG2B 55102 broad.mit.edu 37 14 96798922 96798922 + Silent SNP C C T TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr14:96798922C>T ENST00000359933.4 - 9.0 2171 c.1278G>A c.(1276-1278)ggG>ggA p.G426G NM_018036.5 NP_060506 Q96BY7 ATG2B_HUMAN autophagy related 2B 426.0 autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804) extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407) breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64.0 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TTGGGGGGTCCCCAAGGGGTG 0.398 0 108.0 107.0 107.0 14 96798922.0 1832.0 4075.0 5907.0 SO:0001819 synonymous_variant AK001104 CCDS9944.2 14q32.31 2014-02-12 2012-06-06 2007-07-31 ENSG00000066739 ENSG00000066739 55102.0 55102.0 20187.0 protein-coding gene gene with protein product """chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)""" C14orf103 22350415 Standard NM_018036 NM_018036 Approved FLJ10242 uc001yfi.3 Q96BY7 OTTHUMG00000149933 ENST00000359933.4:c.1278G>A 14.__UNKNOWN__:g.96798922C>T Q6ZRE7|Q96DQ3|Q9NW80 __UNKNOWN__ CCDS9944.2 ATG2B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000314037.1 - ENST00000359933.4 Silent SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 NXT2 55916 broad.mit.edu 37 X 108784843 108784843 + Missense_Mutation SNP T T C TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chrX:108784843T>C ENST00000372106.1 + 3.0 373 c.242T>C c.(241-243)gTt>gCt p.V81A NXT2_ENST00000218004.1_Missense_Mutation_p.V136A|NXT2_ENST00000372103.1_Missense_Mutation_p.V53A|NXT2_ENST00000372107.1_Missense_Mutation_p.V53A NM_001242617.1 NP_001229546.1 Q9NPJ8 NXT2_HUMAN nuclear transport factor 2-like export factor 2 81.0 NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}. mRNA transport (GO:0051028)|protein transport (GO:0015031) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(3)|large_intestine(1)|lung(1)|ovary(1) 6.0 TGCCAACCAGTTCATGGTAAG 0.393 0 117.0 102.0 107.0 X 108784843.0 2203.0 4300.0 6503.0 SO:0001583 missense AF246127 CCDS14546.1, CCDS56605.1, CCDS56606.1 Xq22.3 2008-02-05 ENSG00000101888 ENSG00000101888 55916.0 55916.0 18151.0 protein-coding gene gene with protein product 300320 11073998 Standard NM_018698 NM_018698 Approved P15-2 uc004eoe.2 Q9NPJ8 OTTHUMG00000022185 ENST00000372106.1:c.242T>C X.__UNKNOWN__:g.108784843T>C ENSP00000361178:p.Val81Ala D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5 __UNKNOWN__ CCDS56605.1 . . . . . . . . . . T 24.7 4.559403 0.86335 . . ENSG00000101888 ENST00000218004;ENST00000372107;ENST00000372106;ENST00000372103 . . . 5.33 5.33 0.75918 Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1); 0.000000 0.85682 D 0.000000 T 0.80793 0.4691 M 0.84846 2.72 0.80722 D 1 D;D 0.76494 0.997;0.999 D;D 0.81914 0.984;0.995 D 0.83885 0.0281 9 0.62326 D 0.03 . 14.8499 0.70289 0.0:0.0:0.0:1.0 . 81;136 Q9NPJ8;Q9NPJ8-3 NXT2_HUMAN;. A 136;53;81;53 . ENSP00000218004:V136A V + 2 0 NXT2 108671499 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.698000 0.84413 2.044000 0.60594 0.486000 0.48141 GTT NXT2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057886.1 + ENST00000372106.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 ZNF672 79894 broad.mit.edu 37 1 249142441 249142441 + Missense_Mutation SNP G G A TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr1:249142441G>A ENST00000306562.3 + 4.0 1714 c.968G>A c.(967-969)cGc>cAc p.R323H NM_024836.1 NP_079112.1 Q499Z4 ZN672_HUMAN zinc finger protein 672 323.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(2)|kidney(2)|large_intestine(1) 5.0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) TTCAGCGACCGCTCGGACCTC 0.682 0 16.0 17.0 17.0 1 249142441.0 2199.0 4297.0 6496.0 SO:0001583 missense AK027476 CCDS1638.1 1q44 2013-01-08 ENSG00000171161 ENSG00000171161 79894.0 79894.0 """Zinc fingers, C2H2-type""" 26179.0 protein-coding gene gene with protein product """hypothetical protein FLJ22301""" 12477932 Standard NM_024836 NM_024836 Approved FLJ22301 uc001iex.3 Q499Z4 OTTHUMG00000040377 ENST00000306562.3:c.968G>A 1.__UNKNOWN__:g.249142441G>A ENSP00000421915:p.Arg323His Q96H65|Q96IM3|Q9H6G5 __UNKNOWN__ CCDS1638.1 . . . . . . . . . . G 15.65 2.896756 0.52121 . . ENSG00000171161 ENST00000306562 T 0.36157 1.27 3.3 1.4 0.22301 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.36815 U 0.002395 T 0.20210 0.0486 L 0.32530 0.975 0.21445 N 0.999689 B 0.29612 0.251 B 0.13407 0.009 T 0.12319 -1.0552 9 . . . . 7.068 0.25164 0.2367:0.0:0.7633:0.0 . 323 Q499Z4 ZN672_HUMAN H 323 ENSP00000421915:R323H . R + 2 0 ZNF672 247109064 0.000000 0.05858 0.915000 0.36163 0.841000 0.47740 -0.357000 0.07651 0.406000 0.25560 0.561000 0.74099 CGC ZNF672-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097125.2 + ENST00000306562.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 BZW1 9689 broad.mit.edu 37 2 201681960 201681960 + Silent SNP A A G TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr2:201681960A>G ENST00000409600.1 + 6.0 989 c.534A>G c.(532-534)aaA>aaG p.K178K BZW1_ENST00000409226.1_Silent_p.K182K|BZW1_ENST00000452790.2_Silent_p.K210K NM_001207067.1|NM_014670.3 NP_001193996.1|NP_055485.2 Q7L1Q6 BZW1_HUMAN basic leucine zipper and W2 domains 1 178.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|membrane (GO:0016020) poly(A) RNA binding (GO:0044822) breast(1)|kidney(2)|large_intestine(1)|lung(2) 6.0 ATTTGGTTAAAGAAGGTAATC 0.398 0 99.0 93.0 95.0 2 201681960.0 1860.0 4099.0 5959.0 SO:0001819 synonymous_variant D13630 CCDS56154.1, CCDS56155.1, CCDS56156.1 2q33 2010-04-09 ENSG00000082153 ENSG00000082153 9689.0 9689.0 18380.0 protein-coding gene gene with protein product 10964520, 11524015 Standard NM_014670 NM_001207067 Approved BZAP45, KIAA0005 uc021vus.1 Q7L1Q6 OTTHUMG00000154560 ENST00000409600.1:c.534A>G 2.__UNKNOWN__:g.201681960A>G B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0 __UNKNOWN__ CCDS56156.1 BZW1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335975.1 + ENST00000409600.1 Silent SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 KIF3C 3797 broad.mit.edu 37 2 26204068 26204068 + Missense_Mutation SNP C C T TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr2:26204068C>T ENST00000264712.3 - 1.0 1298 c.719G>A c.(718-720)gGc>gAc p.G240D KIF3C_ENST00000405914.1_Missense_Mutation_p.G240D NM_002254.6 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 240.0 Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}. antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384) cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774) breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29.0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTTGAGCTTGCCCACTCGGAT 0.627 0 52.0 52.0 52.0 2 26204068.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS1719.1 2p23 2008-02-05 ENSG00000084731 ENSG00000084731 3797.0 3797.0 """Kinesins""" 6321.0 protein-coding gene gene with protein product 602845 9480755 Standard NM_002254 Approved uc002rgu.2 O14782 OTTHUMG00000094797 ENST00000264712.3:c.719G>A 2.__UNKNOWN__:g.26204068C>T ENSP00000264712:p.Gly240Asp O43544|Q4ZG18|Q53SX5|Q562F7 __UNKNOWN__ CCDS1719.1 . . . . . . . . . . C 18.45 3.627242 0.66901 . . ENSG00000084731 ENST00000264712;ENST00000542511;ENST00000405914 T;T 0.78595 -1.19;-1.19 5.67 4.8 0.61643 Kinesin, motor domain (4);Kinesin, motor region, conserved site (1); 0.000000 0.85682 D 0.000000 D 0.91472 0.7308 H 0.97158 3.95 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.93415 0.6772 10 0.87932 D 0 . 12.3614 0.55205 0.0:0.9182:0.0:0.0818 . 240;240 B7ZM25;O14782 .;KIF3C_HUMAN D 240;46;240 ENSP00000264712:G240D;ENSP00000385030:G240D ENSP00000264712:G240D G - 2 0 KIF3C 26057572 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 6.047000 0.71038 1.396000 0.46663 0.655000 0.94253 GGC KIF3C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000211611.1 - ENST00000264712.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 SLC26A3 1811 broad.mit.edu 37 7 107414431 107414431 + Silent SNP G G A TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr7:107414431G>A ENST00000340010.5 - 17.0 2125 c.1941C>T c.(1939-1941)caC>caT p.H647H SLC26A3_ENST00000422236.2_Intron NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 647.0 STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}. anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225) anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215) 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) 46.0 GAATGAGGCTGTGGAGGCTGA 0.433 0 201.0 178.0 186.0 7 107414431.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant L02785 CCDS5748.1 7q31 2014-09-17 2013-07-18 ENSG00000091138 ENSG00000091138 1811.0 1811.0 """Solute carriers""" 3018.0 protein-coding gene gene with protein product 126650 """congenital chloride diarrhea"", ""solute carrier family 26, member 3""" DRA, CLD 8020951, 11087667 Standard NM_000111 NM_000111 Approved uc003ver.2 P40879 OTTHUMG00000154812 ENST00000340010.5:c.1941C>T 7.__UNKNOWN__:g.107414431G>A __UNKNOWN__ CCDS5748.1 SLC26A3-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337190.1 - ENST00000340010.5 Silent SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 MYSM1 114803 broad.mit.edu 37 1 59147514 59147514 + Missense_Mutation SNP C C T TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr1:59147514C>T ENST00000472487.1 - 8.0 1241 c.1202G>A c.(1201-1203)cGc>cAc p.R401H MYSM1_ENST00000493821.1_5'UTR NM_001085487.2 NP_001078956.1 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 401.0 SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}. chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24.0 all_cancers(7;9.36e-06) TTTAGCTTGGCGCCCCTCAAA 0.323 0 C HIS/ARG 0,3606 0,0,1803 55.0 50.0 52.0 1202 4.0 0.9 1 52.0 2,8144 0,2,4071 yes missense MYSM1 NM_001085487.2 29 0,2,5874 TT,TC,CC 0.0246,0.0,0.017 probably-damaging 401/829 59147514.0 2,11750 1803.0 4073.0 5876.0 SO:0001583 missense AB067502 CCDS41343.1 1p32.1 2009-02-11 2009-02-11 ENSG00000162601 ENSG00000162601 114803.0 114803.0 29401.0 protein-coding gene gene with protein product 612176 11572484, 17428495, 17707232 Standard XM_055481 NM_001085487 Approved KIAA1915 uc009wab.2 Q5VVJ2 OTTHUMG00000009533 ENST00000472487.1:c.1202G>A 1.__UNKNOWN__:g.59147514C>T ENSP00000418734:p.Arg401His A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3 __UNKNOWN__ CCDS41343.1 . . . . . . . . . . C 23.1 4.377019 0.82682 0.0 2.46E-4 ENSG00000162601 ENST00000472487 T 0.27402 1.67 4.96 4.02 0.46733 Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2); 0.000000 0.85682 D 0.000000 T 0.57548 0.2061 M 0.86178 2.8 0.50039 D 0.99984 D 0.89917 1.0 D 0.91635 0.999 T 0.62300 -0.6883 10 0.54805 T 0.06 -5.2691 12.9823 0.58570 0.0:0.9196:0.0:0.0804 . 401 Q5VVJ2 MYSM1_HUMAN H 401 ENSP00000418734:R401H ENSP00000418734:R401H R - 2 0 MYSM1 58920102 1.000000 0.71417 0.869000 0.34112 0.978000 0.69477 5.616000 0.67709 2.569000 0.86673 0.585000 0.79938 CGC MYSM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000026343.2 - ENST00000472487.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 DSE 29940 broad.mit.edu 37 6 116720670 116720670 + Missense_Mutation SNP T T C TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr6:116720670T>C ENST00000331677.3 + 3.0 701 c.257T>C c.(256-258)cTc>cCc p.L86P DSE_ENST00000540275.1_3'UTR|DSE_ENST00000537543.1_Missense_Mutation_p.L105P|DSE_ENST00000452085.3_Missense_Mutation_p.L86P|DSE_ENST00000359564.2_Missense_Mutation_p.L86P Q9UL01 DSE_HUMAN dermatan sulfate epimerase 86.0 carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) chondroitin-glucuronate 5-epimerase activity (GO:0047757) 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) 35.0 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) TTGGAATACCTCCCTCCCTGG 0.582 0 41.0 40.0 41.0 6 116720670.0 2203.0 4300.0 6503.0 SO:0001583 missense AF098066 CCDS5107.1 6q22 2008-02-05 2007-01-29 2007-01-29 ENSG00000111817 ENSG00000111817 29940.0 29940.0 5.1.3.19 21144.0 protein-coding gene gene with protein product 605942 """squamous cell carcinoma antigen recognized by T cells 2""" SART2 11920522, 16505484 Standard NM_013352 NM_001080976 Approved DSEPI uc003pws.3 Q9UL01 OTTHUMG00000015434 ENST00000331677.3:c.257T>C 6.__UNKNOWN__:g.116720670T>C ENSP00000332151:p.Leu86Pro Q5R3K6 __UNKNOWN__ CCDS5107.1 . . . . . . . . . . T 23.5 4.424455 0.83667 . . ENSG00000111817 ENST00000430252;ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564 T;T;T;T;T 0.44482 1.79;0.92;0.92;0.92;0.92 5.45 5.45 0.79879 . 0.000000 0.85682 D 0.000000 T 0.55673 0.1935 M 0.66939 2.045 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.998 T 0.58918 -0.7551 10 0.56958 D 0.05 -19.0569 15.6958 0.77494 0.0:0.0:0.0:1.0 . 105;86 B7Z765;Q9UL01 .;DSE_HUMAN P 86;86;105;86;86 ENSP00000397597:L86P;ENSP00000404049:L86P;ENSP00000441152:L105P;ENSP00000332151:L86P;ENSP00000352567:L86P ENSP00000332151:L86P L + 2 0 DSE 116827363 1.000000 0.71417 1.000000 0.80357 0.966000 0.64601 7.820000 0.86633 2.288000 0.76882 0.528000 0.53228 CTC DSE-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041940.2 + ENST00000331677.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 MATN4 8785 broad.mit.edu 37 20 43933245 43933245 + Missense_Mutation SNP C C T TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr20:43933245C>T ENST00000372756.1 - 2.0 274 c.266G>A c.(265-267)cGc>cAc p.R89H MATN4_ENST00000537548.1_Missense_Mutation_p.R89H|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.R89H|MATN4_ENST00000372754.1_Missense_Mutation_p.R89H|MATN4_ENST00000360607.6_Missense_Mutation_p.R89H|MATN4_ENST00000353917.5_Missense_Mutation_p.R89H O95460 MATN4_HUMAN matrilin 4 89.0 VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}. extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678) extracellular region (GO:0005576) 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) 27.0 Myeloproliferative disorder(115;0.0122) AGAGAACGCGCGGAGAGGGAA 0.642 0 34.0 31.0 32.0 20 43933245.0 2202.0 4300.0 6502.0 SO:0001583 missense AJ007581 CCDS13348.1, CCDS46607.1 20q13.1-q13.2 2008-07-07 ENSG00000124159 ENSG00000124159 8785.0 8785.0 6910.0 protein-coding gene gene with protein product 603897 9827539, 9027493 Standard NM_003833 Approved uc002xnn.2 O95460 OTTHUMG00000033043 ENST00000372756.1:c.266G>A 20.__UNKNOWN__:g.43933245C>T ENSP00000361842:p.Arg89His A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9 __UNKNOWN__ CCDS13348.1 . . . . . . . . . . C 12.15 1.851115 0.32699 . . ENSG00000124159 ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132 D;D;D;D;D;D 0.83992 -1.79;-1.79;-1.79;-1.79;-1.79;-1.79 4.5 4.5 0.54988 . 0.532223 0.15638 N 0.252035 T 0.80308 0.4599 L 0.43923 1.385 0.20563 N 0.999881 P;P;P 0.48834 0.478;0.916;0.864 B;P;B 0.49597 0.111;0.616;0.397 T 0.72178 -0.4369 10 0.56958 D 0.05 . 6.1762 0.20444 0.0:0.7935:0.0:0.2065 . 89;89;89 A6NNA4;O95460-4;O95460-2 .;.;. H 89 ENSP00000361840:R89H;ENSP00000361842:R89H;ENSP00000243983:R89H;ENSP00000353819:R89H;ENSP00000343164:R89H;ENSP00000440328:R89H ENSP00000255132:R89H R - 2 0 MATN4 43366659 0.366000 0.25014 0.024000 0.17045 0.034000 0.12701 4.015000 0.57152 2.335000 0.79485 0.462000 0.41574 CGC MATN4-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000080334.1 - ENST00000372756.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 SLC25A39 51629 broad.mit.edu 37 17 42399848 42399848 + Missense_Mutation SNP C C A TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr17:42399848C>A ENST00000377095.5 - 5.0 382 c.263G>T c.(262-264)tGc>tTc p.C88F SLC25A39_ENST00000537904.2_Missense_Mutation_p.C65F|SLC25A39_ENST00000225308.8_Missense_Mutation_p.C80F|SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000590194.1_Missense_Mutation_p.C80F NM_001143780.1 NP_001137252.1 Q9BZJ4 S2539_HUMAN solute carrier family 25, member 39 88.0 heme biosynthetic process (GO:0006783)|transport (GO:0006810) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7.0 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) ACCATTTGGGCACAGGTACAG 0.587 0 107.0 86.0 93.0 17 42399848.0 2203.0 4300.0 6503.0 SO:0001583 missense BC096819 CCDS11482.1, CCDS45700.1 17q12 2013-05-22 ENSG00000013306 ENSG00000013306 51629.0 51629.0 """Solute carriers""" 24279.0 protein-coding gene gene with protein product 610820 16949250 Standard NM_016016 NM_001143780 Approved FLJ22407, CGI-69 uc002ign.2 Q9BZJ4 OTTHUMG00000132628 ENST00000377095.5:c.263G>T 17.__UNKNOWN__:g.42399848C>A ENSP00000366299:p.Cys88Phe A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379 __UNKNOWN__ CCDS45700.1 . . . . . . . . . . C 26.2 4.717153 0.89205 . . ENSG00000013306 ENST00000225308;ENST00000377095;ENST00000537904 T;T;T 0.80994 -1.44;-1.3;-1.41 5.38 5.38 0.77491 Mitochondrial carrier domain (1); 0.000000 0.85682 D 0.000000 D 0.87533 0.6201 L 0.50333 1.59 0.80722 D 1 D;D;P;D;D 0.89917 1.0;1.0;0.933;0.999;0.997 D;D;D;D;D 0.81914 0.995;0.989;0.921;0.993;0.973 D 0.87482 0.2421 10 0.59425 D 0.04 -26.9335 18.9412 0.92605 0.0:1.0:0.0:0.0 . 73;80;65;88;80 B4DVL9;B4DI93;B4DFG5;Q9BZJ4;Q9BZJ4-2 .;.;.;S2539_HUMAN;. F 80;88;65 ENSP00000225308:C80F;ENSP00000366299:C88F;ENSP00000444540:C65F ENSP00000225308:C80F C - 2 0 SLC25A39 39755374 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 4.431000 0.59915 2.793000 0.96121 0.655000 0.94253 TGC SLC25A39-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000457745.1 - ENST00000377095.5 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 OR7C2 26658 broad.mit.edu 37 19 15052535 15052535 + Missense_Mutation SNP C C T TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr19:15052535C>T ENST00000248072.3 + 1.0 235 c.235C>T c.(235-237)Cca>Tca p.P79S NM_012377.1 NP_036509.1 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, member 2 79.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) large_intestine(3)|lung(8)|ovary(2)|skin(2) 15.0 Ovarian(108;0.203) CACGACTGTCCCAAAGATGCT 0.458 0 73.0 64.0 67.0 19 15052535.0 2203.0 4300.0 6503.0 SO:0001583 missense U86255 CCDS12320.1 19p13.1 2012-08-09 ENSG00000127529 26658.0 26658.0 """GPCR / Class A : Olfactory receptors""" 8374.0 protein-coding gene gene with protein product OR7C3 Standard NM_012377 Approved OR19-18 uc010xoc.2 O60412 ENST00000248072.3:c.235C>T 19.__UNKNOWN__:g.15052535C>T ENSP00000248072:p.Pro79Ser O43881|Q6IFP9 __UNKNOWN__ CCDS12320.1 . . . . . . . . . . c 12.86 2.064166 0.36373 . . ENSG00000127529 ENST00000248072 T 0.01854 4.6 4.19 4.19 0.49359 GPCR, rhodopsin-like superfamily (1); 0.000000 0.42420 U 0.000711 T 0.20981 0.0505 H 0.97758 4.07 0.33901 D 0.638471 D 0.89917 1.0 D 0.71414 0.973 T 0.55010 -0.8207 10 0.87932 D 0 . 14.3821 0.66919 0.0:1.0:0.0:0.0 . 79 O60412 OR7C2_HUMAN S 79 ENSP00000248072:P79S ENSP00000248072:P79S P + 1 0 OR7C2 14913535 1.000000 0.71417 0.793000 0.32043 0.144000 0.21451 5.381000 0.66208 2.336000 0.79503 0.514000 0.50259 CCA OR7C2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466281.1 + ENST00000248072.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 C5orf28 64417 broad.mit.edu 37 5 43446327 43446327 + Silent SNP G G C TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr5:43446327G>C ENST00000500337.2 - 5.0 976 c.645C>G c.(643-645)gtC>gtG p.V215V C5orf28_ENST00000512085.1_Silent_p.V215V|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000510130.1_Silent_p.V113V|C5orf28_ENST00000537319.1_Silent_p.V84V|C5orf28_ENST00000397080.3_Silent_p.V215V Q0VDI3 CE028_HUMAN chromosome 5 open reading frame 28 215.0 integral component of membrane (GO:0016021) breast(1)|kidney(1)|large_intestine(2)|lung(5) 9.0 Lung NSC(6;2.07e-05) GTGTACCTCAGACATCAATAC 0.333 0 93.0 90.0 91.0 5 43446327.0 2202.0 4300.0 6502.0 SO:0001819 synonymous_variant AK025310 CCDS3945.1 5p12 2011-01-25 ENSG00000151881 ENSG00000151881 64417.0 64417.0 26139.0 protein-coding gene gene with protein product 12477932 Standard NM_022483 NM_022483 Approved FLJ21657 uc003jny.3 Q0VDI3 OTTHUMG00000131150 ENST00000500337.2:c.645C>G 5.__UNKNOWN__:g.43446327G>C B2RDA6|Q9H6Z2 __UNKNOWN__ CCDS3945.1 C5orf28-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000368003.1 - ENST00000500337.2 Silent SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 PLXNB2 23654 broad.mit.edu 37 22 50718132 50718132 + Missense_Mutation SNP G G A TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr22:50718132G>A ENST00000449103.1 - 27.0 4456 c.4316C>T c.(4315-4317)gCg>gTg p.A1439V PLXNB2_ENST00000359337.4_Missense_Mutation_p.A1439V O15031 PLXB2_HUMAN plexin B2 1439.0 brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622) GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154) 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) 66.0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTTCTGTACCGCATCCACCGG 0.617 0 151.0 171.0 164.0 22 50718132.0 1996.0 4140.0 6136.0 SO:0001583 missense CCDS43035.1 22q13.33 2008-06-12 ENSG00000196576 ENSG00000196576 23654.0 23654.0 """Plexins""" 9104.0 protein-coding gene gene with protein product 604293 10520995, 12183458 Standard NM_012401 NM_012401 Approved MM1, KIAA0315, PLEXB2 uc003bkv.4 O15031 OTTHUMG00000150219 ENST00000449103.1:c.4316C>T 22.__UNKNOWN__:g.50718132G>A ENSP00000409171:p.Ala1439Val A6QRH0|Q7KZU3|Q9BSU7 __UNKNOWN__ CCDS43035.1 . . . . . . . . . . G 17.21 3.331777 0.60853 . . ENSG00000196576 ENST00000449103;ENST00000359337;ENST00000399964 T;T 0.15139 2.45;2.45 4.17 4.17 0.49024 Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1); 0.000000 0.64402 D 0.000002 T 0.35098 0.0920 L 0.55103 1.725 0.80722 D 1 D 0.76494 0.999 D 0.65987 0.94 T 0.04509 -1.0946 10 0.36615 T 0.2 . 17.0055 0.86392 0.0:0.0:1.0:0.0 . 1439 O15031 PLXB2_HUMAN V 1439;1439;71 ENSP00000409171:A1439V;ENSP00000352288:A1439V ENSP00000352288:A1439V A - 2 0 PLXNB2 49060259 0.999000 0.42202 0.952000 0.39060 0.168000 0.22595 3.644000 0.54381 2.306000 0.77630 0.462000 0.41574 GCG PLXNB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316874.3 - ENST00000449103.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 LPA 4018 broad.mit.edu 37 6 161007643 161007643 + Missense_Mutation SNP A A T TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr6:161007643A>T ENST00000316300.5 - 25.0 4011 c.3967T>A c.(3967-3969)Tgc>Agc p.C1323S LPA_ENST00000447678.1_Missense_Mutation_p.C1323S P08519 APOA_HUMAN lipoprotein, Lp(a) 3831.0 Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}. blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281) extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358) apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252) 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) 107.0 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) GGATTCCTGCAGTAGTTCCTG 0.483 0 93.0 93.0 93.0 6 161007643.0 2189.0 4297.0 6486.0 SO:0001583 missense X06290 CCDS43523.1 6q25-q26 2012-10-02 ENSG00000198670 ENSG00000198670 4018.0 4018.0 6667.0 protein-coding gene gene with protein product 152200 LP 3670400 Standard NM_005577 NM_005577 Approved uc003qtl.3 P08519 OTTHUMG00000015956 ENST00000316300.5:c.3967T>A 6.__UNKNOWN__:g.161007643A>T ENSP00000321334:p.Cys1323Ser Q5VTD7|Q9UD88 __UNKNOWN__ CCDS43523.1 . . . . . . . . . . a 14.12 2.441638 0.43326 . . ENSG00000198670 ENST00000316300;ENST00000447678 D;D 0.98164 -4.76;-4.76 2.55 2.55 0.30701 Kringle (4);Kringle-like fold (1);Kringle, conserved site (1); . . . . D 0.99293 0.9753 H 0.99838 4.83 0.45791 D 0.998674 P 0.46142 0.873 P 0.61874 0.895 D 0.98883 1.0770 9 0.72032 D 0.01 . 8.5612 0.33511 1.0:0.0:0.0:0.0 . 3831 P08519 APOA_HUMAN S 1323 ENSP00000321334:C1323S;ENSP00000395608:C1323S ENSP00000321334:C1323S C - 1 0 LPA 160927633 1.000000 0.71417 0.993000 0.49108 0.476000 0.33039 6.608000 0.74168 1.158000 0.42547 0.352000 0.21897 TGC LPA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042957.1 - ENST00000316300.5 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 Unknown 343326 bcgsc.ca 37 1 182929439 182929439 + RNA SNP G G A TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr1:182929439G>A AL450304.1 (729 upstream) : RNU6-41P (21907 downstream) ATAGCTGGGCGCCTGGACAGA 0.607 0 SO:0001628 intergenic_variant 1.__UNKNOWN__:g.182929439G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 Unknown 0 bcgsc.ca 37 1 167131867 167131867 + RNA SNP C C G TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr1:167131867C>G DUSP27 (33465 upstream) : RP11-277B15.2 (13286 downstream) ATGGAGATACCTCTTACTGGT 0.473 0 SO:0001628 intergenic_variant 1.__UNKNOWN__:g.167131867C>G __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 TENC1 23371 ucsc.edu 37 12 53454485 53454485 + Missense_Mutation SNP C C T TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 9e4ba3a7-7593-4119-a1ce-d9985a5eba12 c5a62d15-b127-4c87-b7f3-bdff4feefdf3 g.chr12:53454485C>T ENST00000546602.1 + 20.0 2504 c.2504C>T c.(2503-2505)cCc>cTc p.P835L TENC1_ENST00000451358.1_Missense_Mutation_p.P922L|TENC1_ENST00000552570.1_Missense_Mutation_p.P932L|TENC1_ENST00000379902.3_Missense_Mutation_p.P808L|TENC1_ENST00000549700.1_Missense_Mutation_p.P867L|TENC1_ENST00000314276.3_Missense_Mutation_p.P942L|TENC1_ENST00000314250.6_Missense_Mutation_p.P932L Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 932.0 Pro-rich. cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850) focal adhesion (GO:0005925)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34.0 ACCAGGTCCCCCACCTCAGCG 0.662 0 37.0 37.0 37.0 12 53454485.0 2203.0 4299.0 6502.0 SO:0001583 missense AF518729 CCDS8842.1, CCDS8843.1, CCDS8844.1 12q13.13 2013-02-14 2004-03-05 ENSG00000111077 23371.0 23371.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing""" 19737.0 protein-coding gene gene with protein product """tensin 2""" 607717 """tensin like C1 domain-containing phosphatase""" Standard NM_170754 NM_015319 Approved KIAA1075, C1-TEN, TNS2 uc001sbp.3 Q63HR2 OTTHUMG00000169730 ENST00000546602.1:c.2504C>T 12.__UNKNOWN__:g.53454485C>T ENSP00000449363:p.Pro835Leu A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7 __UNKNOWN__ . . . . . . . . . . C 11.23 1.576954 0.28092 . . ENSG00000111077 ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000546602;ENST00000552570;ENST00000549700 D;D;D;D;D;D;D 0.94723 -3.5;-3.5;-3.5;-3.5;-3.41;-3.5;-3.49 4.42 4.42 0.53409 . 0.249732 0.32608 N 0.005862 D 0.93949 0.8063 N 0.24115 0.695 0.45129 D 0.998148 B;D;B;B 0.76494 0.003;0.999;0.001;0.003 B;D;B;B 0.72075 0.004;0.976;0.002;0.006 D 0.93088 0.6497 10 0.40728 T 0.16 -8.0854 12.7318 0.57203 0.0:1.0:0.0:0.0 . 932;835;932;942 Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4 .;.;TENC1_HUMAN;. L 808;942;932;922;835;932;867 ENSP00000369232:P808L;ENSP00000319756:P942L;ENSP00000319684:P932L;ENSP00000393362:P922L;ENSP00000449363:P835L;ENSP00000447021:P932L;ENSP00000449361:P867L ENSP00000319684:P932L P + 2 0 TENC1 51740752 0.007000 0.16637 1.000000 0.80357 0.838000 0.47535 0.488000 0.22371 2.468000 0.83385 0.462000 0.41574 CCC TENC1-008 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000405791.2 + ENST00000546602.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HC-Normal-SM-5EMN3 METTL21A 151194 broad.mit.edu 37 2 208486586 208486586 + Missense_Mutation SNP G G C TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr2:208486586G>C ENST00000432416.1 - 3.0 291 c.203C>G c.(202-204)tCt>tGt p.S68C METTL21A_ENST00000458426.1_Missense_Mutation_p.S68C|METTL21A_ENST00000426075.1_Missense_Mutation_p.S68C|METTL21A_ENST00000448007.2_Missense_Mutation_p.S68C|METTL21A_ENST00000406927.2_Missense_Mutation_p.S68C|METTL21A_ENST00000448823.2_Intron|METTL21A_ENST00000425132.1_Missense_Mutation_p.S68C|METTL21A_ENST00000411432.1_Missense_Mutation_p.S68C|METTL21A_ENST00000442521.1_Missense_Mutation_p.S68C|METTL21A_ENST00000272839.3_Missense_Mutation_p.S68C Q8WXB1 MT21A_HUMAN methyltransferase like 21A 68.0 peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479) cytoplasm (GO:0005737) ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279) endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1) 10.0 CTCCACGGCAGAGCGGCCCCT 0.557 0 81.0 78.0 79.0 2 208486586.0 2203.0 4300.0 6503.0 SO:0001583 missense AK093812, AF455817 CCDS2376.1 2q33.3 2013-09-30 2011-03-03 2011-03-03 ENSG00000144401 ENSG00000144401 151194.0 151194.0 30476.0 protein-coding gene gene with protein product """Hepatocellular carcinoma-associated antigen 557b"", ""heat shock protein 70kDa lysine (K) methyltransferase""" 615257 """family with sequence similarity 119, member A""" FAM119A 23921388 Standard NM_145280 NM_145280 Approved LOC151194, HCA557b, HSPA-KMT uc010fuk.1 Q8WXB1 OTTHUMG00000132934 ENST00000432416.1:c.203C>G 2.__UNKNOWN__:g.208486586G>C ENSP00000416570:p.Ser68Cys Q53RV0|Q8N1Z9|Q96GH6 __UNKNOWN__ . . . . . . . . . . G 16.91 3.253294 0.59212 . . ENSG00000144401 ENST00000432416;ENST00000458426;ENST00000425132;ENST00000461419;ENST00000411432;ENST00000448007;ENST00000272839;ENST00000406927;ENST00000426075;ENST00000442521 T;T;T;T;T;T;T;T;T 0.45276 0.9;0.9;0.9;2.21;2.21;2.21;2.21;2.21;2.21 4.08 3.19 0.36642 . 0.508793 0.23086 N 0.052083 T 0.44286 0.1286 L 0.58101 1.795 0.36215 D 0.851623 P;P 0.45126 0.851;0.819 P;B 0.47626 0.552;0.325 T 0.54814 -0.8237 10 0.54805 T 0.06 -3.564 8.8291 0.35074 0.0843:0.1527:0.7631:0.0 . 68;68 Q8WXB1;Q8WXB1-2 MT21A_HUMAN;. C 68 ENSP00000416570:S68C;ENSP00000389684:S68C;ENSP00000400730:S68C;ENSP00000415115:S68C;ENSP00000407622:S68C;ENSP00000272839:S68C;ENSP00000385481:S68C;ENSP00000403317:S68C;ENSP00000392062:S68C ENSP00000272839:S68C S - 2 0 METTL21A 208194831 0.993000 0.37304 1.000000 0.80357 0.994000 0.84299 1.108000 0.31123 1.026000 0.39733 0.455000 0.32223 TCT METTL21A-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000337043.1 - ENST00000432416.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY ATP9B 374868 broad.mit.edu 37 18 76953241 76953241 + Missense_Mutation SNP G G A TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr18:76953241G>A ENST00000307671.7 + 9.0 946 c.932G>A c.(931-933)aGt>aAt p.S311N ATP9B_ENST00000426216.2_Missense_Mutation_p.S311N O43861 ATP9B_HUMAN ATPase, class II, type 9B 311.0 establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332) integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38.0 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) GACATTCACAGTTTCGAAGGC 0.333 0 136.0 132.0 133.0 18 76953241.0 2203.0 4298.0 6501.0 SO:0001583 missense R51412 CCDS12014.1 18q23 2010-04-20 2007-09-19 ENSG00000166377 ENSG00000166377 374868.0 374868.0 """ATPases / P-type""" 13541.0 protein-coding gene gene with protein product 614446 """ATPase, Class II, type 9B""" 9548971, 11015572 Standard NM_198531 NM_198531 Approved ATPIIB uc002lmx.3 O43861 OTTHUMG00000132898 ENST00000307671.7:c.932G>A 18.__UNKNOWN__:g.76953241G>A ENSP00000304500:p.Ser311Asn O60872|Q08AD8|Q08AD9 __UNKNOWN__ . . . . . . . . . . G 13.35 2.209769 0.39003 . . ENSG00000166377 ENST00000426216;ENST00000307671 T;T 0.67345 -0.23;-0.26 5.07 5.07 0.68467 ATPase, P-type, ATPase-associated domain (1); 0.146826 0.64402 D 0.000004 T 0.59321 0.2185 L 0.41236 1.265 0.80722 D 1 B;B 0.02656 0.0;0.0 B;B 0.15052 0.012;0.007 T 0.54084 -0.8346 10 0.18710 T 0.47 . 18.8154 0.92075 0.0:0.0:1.0:0.0 . 311;311 O43861;O43861-2 ATP9B_HUMAN;. N 311 ENSP00000398076:S311N;ENSP00000304500:S311N ENSP00000304500:S311N S + 2 0 ATP9B 75054229 1.000000 0.71417 1.000000 0.80357 0.967000 0.64934 6.090000 0.71397 2.523000 0.85059 0.585000 0.79938 AGT ATP9B-004 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000450474.1 + ENST00000307671.7 Missense_Mutation SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY MAGI2 9863 broad.mit.edu 37 7 78131086 78131086 + Missense_Mutation SNP T T C rs142017790 TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr7:78131086T>C ENST00000354212.4 - 5.0 1026 c.773A>G c.(772-774)gAc>gGc p.D258G MAGI2_ENST00000536571.1_Missense_Mutation_p.D90G|MAGI2_ENST00000535697.1_Missense_Mutation_p.D95G|MAGI2_ENST00000522391.1_Missense_Mutation_p.D258G|MAGI2_ENST00000419488.1_Missense_Mutation_p.D258G NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 258.0 Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}. cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395) cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923) beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699) 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) 84.0 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGCACTTTTGTCTTCATGTTC 0.502 0 119.0 103.0 108.0 7 78131086.0 2203.0 4300.0 6503.0 SO:0001583 missense AB014605 CCDS5594.1, CCDS75623.1 7q21 2005-08-09 ENSG00000187391 ENSG00000187391 9863.0 9863.0 18957.0 protein-coding gene gene with protein product 606382 10681527, 9734811 Standard NM_012301 XM_005250725 Approved AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2 uc003ugx.3 Q86UL8 OTTHUMG00000130697 ENST00000354212.4:c.773A>G 7.__UNKNOWN__:g.78131086T>C ENSP00000346151:p.Asp258Gly A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1 __UNKNOWN__ CCDS5594.1 . . . . . . . . . . T 16.45 3.125772 0.56721 . . ENSG00000187391 ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697 T;T;T;T;T 0.11277 2.89;2.9;2.79;3.73;3.75 5.9 4.73 0.59995 Guanylate kinase/L-type calcium channel (1); 0.185194 0.24666 U 0.036596 T 0.14141 0.0342 L 0.52573 1.65 0.80722 D 1 P;B;P;B 0.35575 0.454;0.218;0.51;0.376 B;B;B;B 0.40199 0.322;0.221;0.154;0.073 T 0.03060 -1.1077 10 0.33940 T 0.23 . 12.6237 0.56618 0.0:0.0:0.1383:0.8617 . 95;90;258;258 F5GWH1;F5GWK7;Q86UL8-2;Q86UL8 .;.;.;MAGI2_HUMAN G 258;258;258;258;90;95 ENSP00000405766:D258G;ENSP00000346151:D258G;ENSP00000428389:D258G;ENSP00000441584:D90G;ENSP00000441603:D95G ENSP00000346151:D258G D - 2 0 MAGI2 77969022 1.000000 0.71417 0.995000 0.50966 0.977000 0.68977 5.976000 0.70484 1.038000 0.40049 0.533000 0.62120 GAC MAGI2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253197.3 - ENST00000354212.4 Missense_Mutation SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY SYNE1 23345 broad.mit.edu 37 6 152590365 152590365 + Silent SNP G G A TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr6:152590365G>A ENST00000367255.5 - 99.0 19231 c.18630C>T c.(18628-18630)ccC>ccT p.P6210P SYNE1_ENST00000356820.4_Silent_p.P734P|SYNE1_ENST00000265368.4_Silent_p.P6210P|SYNE1_ENST00000423061.1_Silent_p.P6139P|SYNE1_ENST00000448038.1_Silent_p.P6139P|SYNE1_ENST00000341594.5_Silent_p.P5822P NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6210.0 cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993) actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) 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) 524.0 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCTGGACGCCGGGGCTCTGCG 0.547 HNSCC(10;0.0054) 0 146.0 117.0 127.0 6 152590365.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB018339 CCDS5235.1, CCDS5236.1, CCDS5236.2 6q24.2-q25.3 2014-09-17 ENSG00000131018 ENSG00000131018 23345.0 23345.0 17089.0 protein-coding gene gene with protein product """myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1""" 608441 """chromosome 6 open reading frame 98""" C6orf98 9872452, 10878022 Standard NM_182961 NM_182961 Approved SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1 uc003qou.4 Q8NF91 OTTHUMG00000015841 ENST00000367255.5:c.18630C>T 6.__UNKNOWN__:g.152590365G>A E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8 __UNKNOWN__ CCDS5236.2 SYNE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000334755.2 - ENST00000367255.5 Silent SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY MARK2 2011 broad.mit.edu 37 11 63669773 63669773 + Missense_Mutation SNP A A G TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr11:63669773A>G ENST00000509502.2 + 12.0 1569 c.1106A>G c.(1105-1107)aAt>aGt p.N369S MARK2_ENST00000502399.3_Missense_Mutation_p.N402S|MARK2_ENST00000408948.3_Missense_Mutation_p.N369S|MARK2_ENST00000377810.3_Missense_Mutation_p.N369S|MARK2_ENST00000413835.2_Missense_Mutation_p.N402S|MARK2_ENST00000315032.8_Missense_Mutation_p.N402S|MARK2_ENST00000350490.7_Missense_Mutation_p.N402S|MARK2_ENST00000361128.5_Missense_Mutation_p.N402S|MARK2_ENST00000377809.4_Missense_Mutation_p.N402S|MARK2_ENST00000402010.2_Missense_Mutation_p.N402S|MARK2_ENST00000425897.2_Missense_Mutation_p.N369S|MARK2_ENST00000513765.2_Missense_Mutation_p.N369S|MARK2_ENST00000508192.1_Missense_Mutation_p.N402S NM_017490.3 NP_059672.2 MAP/microtubule affinity-regulating kinase 2 autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33.0 GTGTCGGCCAATCCCAAGCAG 0.592 0 79.0 69.0 73.0 11 63669773.0 2201.0 4297.0 6498.0 SO:0001583 missense BC008771 CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1 11q13.1 2013-06-27 2002-07-26 2002-08-01 ENSG00000072518 ENSG00000072518 2011.0 2011.0 3332.0 protein-coding gene gene with protein product """ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B""" 600526 """ELKL motif kinase""" EMK1 9730619, 10516437 Standard NM_017490 NM_017490 Approved PAR-1, Par1b, PAR-1B uc001nxw.3 Q7KZI7 OTTHUMG00000160504 ENST00000509502.2:c.1106A>G 11.__UNKNOWN__:g.63669773A>G ENSP00000423974:p.Asn369Ser __UNKNOWN__ CCDS41665.1 . . . . . . . . . . A 8.850 0.944425 0.18356 . . ENSG00000072518 ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897 T;T;T;T;T;T;T;T;T;T;T;T 0.70631 -0.44;-0.44;-0.43;-0.46;-0.48;-0.48;-0.46;-0.47;-0.47;-0.43;-0.48;-0.5 5.07 5.07 0.68467 . 0.051440 0.85682 D 0.000000 T 0.56572 0.1994 L 0.33485 1.01 0.46823 D 0.999213 B;B;B;P;B;B 0.44429 0.024;0.013;0.013;0.835;0.011;0.004 B;B;B;B;B;B 0.41271 0.009;0.016;0.009;0.352;0.01;0.01 T 0.58891 -0.7556 10 0.05436 T 0.98 . 13.9456 0.64082 1.0:0.0:0.0:0.0 . 369;369;402;402;402;402 E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16 .;.;.;.;MARK2_HUMAN;. S 402;402;402;402;369;402;402;402;402;369;369;369;369 ENSP00000385751:N402S;ENSP00000326632:N402S;ENSP00000367040:N402S;ENSP00000389184:N402S;ENSP00000367041:N369S;ENSP00000425765:N402S;ENSP00000355091:N402S;ENSP00000294247:N402S;ENSP00000423974:N369S;ENSP00000421075:N369S;ENSP00000386128:N369S;ENSP00000415494:N369S ENSP00000326632:N402S N + 2 0 MARK2 63426349 1.000000 0.71417 1.000000 0.80357 0.857000 0.48899 2.699000 0.47077 2.125000 0.65367 0.454000 0.30748 AAT MARK2-003 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000360862.2 + ENST00000509502.2 Missense_Mutation SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY MAP3K4 4216 broad.mit.edu 37 6 161529848 161529848 + Missense_Mutation SNP A A G TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr6:161529848A>G ENST00000392142.4 + 22.0 4341 c.4193A>G c.(4192-4194)aAa>aGa p.K1398R MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1348R|MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1394R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1344R NM_005922.2 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1398.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225) cytoplasm (GO:0005737) ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77.0 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) GAAGGCATCAAACACCCCAAT 0.423 0 180.0 174.0 176.0 6 161529848.0 2203.0 4300.0 6503.0 SO:0001583 missense AF002715 CCDS34565.1, CCDS34566.1, CCDS75544.1 6q26 2012-10-02 ENSG00000085511 ENSG00000085511 4216.0 4216.0 """Mitogen-activated protein kinase cascade / Kinase kinase kinases""" 6856.0 protein-coding gene gene with protein product 602425 MEKK4 9305639 Standard XM_005266988 Approved MTK1, MAPKKK4, KIAA0213 uc003qtn.3 Q9Y6R4 OTTHUMG00000015968 ENST00000392142.4:c.4193A>G 6.__UNKNOWN__:g.161529848A>G ENSP00000375986:p.Lys1398Arg A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408 __UNKNOWN__ CCDS34565.1 . . . . . . . . . . A 26.7 4.759849 0.89932 . . ENSG00000085511 ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824 T;T;T;T 0.23754 1.89;1.89;1.89;1.89 4.51 4.51 0.55191 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.10294 0.0252 N 0.10916 0.065 0.58432 D 0.999998 B;B;P;P 0.46142 0.026;0.004;0.715;0.873 B;B;B;P 0.48654 0.016;0.012;0.243;0.585 T 0.12116 -1.0560 10 0.30854 T 0.27 -10.7567 12.6724 0.56874 1.0:0.0:0.0:0.0 . 1394;334;1348;1398 F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4 .;.;.;M3K4_HUMAN R 1348;1398;1348;1394;1344 ENSP00000355886:K1348R;ENSP00000375986:K1398R;ENSP00000355887:K1394R;ENSP00000297332:K1344R ENSP00000297332:K1344R K + 2 0 MAP3K4 161449838 1.000000 0.71417 0.990000 0.47175 0.995000 0.86356 9.245000 0.95431 1.800000 0.52685 0.528000 0.53228 AAA MAP3K4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000042988.3 + ENST00000392142.4 Missense_Mutation SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY DPP6 1804 broad.mit.edu 37 7 154684108 154684108 + Missense_Mutation SNP T T C TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr7:154684108T>C ENST00000377770.3 + 26.0 2657 c.2516T>C c.(2515-2517)aTc>aCc p.I839T DPP6_ENST00000332007.3_Missense_Mutation_p.I777T|DPP6_ENST00000404039.1_Missense_Mutation_p.I775T|DPP6_ENST00000427557.1_Missense_Mutation_p.I732T P42658 DPP6_HUMAN dipeptidyl-peptidase 6 839.0 cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236) 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) 71.0 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) TACCGGTCCATCATCAACTTC 0.512 NSCLC(125;1384 1783 2490 7422 34254) 0 124.0 132.0 129.0 7 154684108.0 2101.0 4227.0 6328.0 SO:0001583 missense M96859 CCDS75682.1, CCDS75683.1, CCDS75684.1 7q36.2 2006-08-07 2006-01-12 ENSG00000130226 ENSG00000130226 1804.0 1804.0 3010.0 protein-coding gene gene with protein product 126141 """dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6""" 1729689 Standard NM_130797 XM_006715871 Approved DPPX uc003wlk.3 P42658 OTTHUMG00000151511 ENST00000377770.3:c.2516T>C 7.__UNKNOWN__:g.154684108T>C ENSP00000367001:p.Ile839Thr __UNKNOWN__ . . . . . . . . . . T 12.48 1.950086 0.34377 . . ENSG00000130226 ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557 T;T;T;T 0.48201 0.82;0.82;0.82;0.82 4.66 4.66 0.58398 Peptidase S9, prolyl oligopeptidase, catalytic domain (1); 0.319873 0.34002 N 0.004354 T 0.66886 0.2835 M 0.74647 2.275 0.41980 D 0.990794 P;P;D;P 0.57257 0.661;0.918;0.979;0.933 B;D;D;D 0.67382 0.41;0.918;0.951;0.951 T 0.72520 -0.4268 10 0.87932 D 0 -9.3896 14.1169 0.65159 0.0:0.0:0.0:1.0 . 732;777;839;775 E9PDL2;P42658-2;P42658;E9PF59 .;.;DPP6_HUMAN;. T 775;839;777;732 ENSP00000385578:I775T;ENSP00000367001:I839T;ENSP00000328226:I777T;ENSP00000397303:I732T ENSP00000328226:I777T I + 2 0 DPP6 154315041 1.000000 0.71417 0.774000 0.31636 0.120000 0.20174 7.157000 0.77461 1.745000 0.51790 0.533000 0.62120 ATC DPP6-003 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000322932.1 + ENST00000377770.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY RUFY1 80230 broad.mit.edu 37 5 178994549 178994549 + Silent SNP T T C TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr5:178994549T>C ENST00000437570.2 + 3.0 713 c.366T>C c.(364-366)aaT>aaC p.N122N RUFY1_ENST00000393438.2_Silent_p.N122N|RUFY1_ENST00000377001.2_Silent_p.N230N|RUFY1_ENST00000319449.4_Silent_p.N230N NM_001040451.2 NP_001035541.1 Q96T51 RUFY1_HUMAN RUN and FYVE domain containing 1 230.0 endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100) cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26.0 all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195) all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTATAGACAATAAACATCTCT 0.418 HNSCC(44;0.11) 0 100.0 100.0 100.0 5 178994549.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF361055 CCDS4445.2, CCDS34312.1 5q35.3 2008-02-05 ENSG00000176783 ENSG00000176783 80230.0 80230.0 """Zinc fingers, FYVE domain containing""" 19760.0 protein-coding gene gene with protein product 610327 11877430 Standard NM_001040451 NM_001040451 Approved FLJ22251, ZFYVE12, RABIP4 uc003mka.2 Q96T51 OTTHUMG00000130913 ENST00000437570.2:c.366T>C 5.__UNKNOWN__:g.178994549T>C Q59FF3|Q71S93|Q9H6I3 __UNKNOWN__ CCDS34312.1 . . . . . . . . . . T 5.286 0.238159 0.10023 . . ENSG00000176783 ENST00000502984;ENST00000508609 . . . 5.43 0.0226 0.14133 . . . . . T 0.58395 0.2119 . . . 0.80722 D 1 . . . . . . T 0.52719 -0.8538 4 . . . -17.6881 10.9952 0.47571 0.0:0.5129:0.0:0.4871 . . . . T 188;41 . . I + 2 0 RUFY1 178927155 0.955000 0.32602 0.992000 0.48379 0.553000 0.35397 0.030000 0.13688 -0.148000 0.11234 -0.379000 0.06801 ATA RUFY1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000371901.1 + ENST00000437570.2 Silent SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr11:533874T>C ENST00000451590.1 - 3.0 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R NM_001130442.1|NM_005343.2 NP_001123914.1|NP_005334.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61.0 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022) p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901.0 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6.0 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) yes Dom yes Costello syndrome 11 11p15.5 3265.0 v-Ha-ras Harvey rat sarcoma viral oncogene homolog """E, L, M""" 256 Substitution - Missense(256) skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1) 117.0 102.0 107.0 11 533874.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Facio-Cutaneous-Skeletal syndrome AJ437024 CCDS7698.1, CCDS7699.1 11p15.5 2014-09-17 2013-07-08 ENSG00000174775 ENSG00000174775 3265.0 3265.0 5173.0 protein-coding gene gene with protein product 190020 """v-Ha-ras Harvey rat sarcoma viral oncogene homolog""" HRAS1 Standard NM_176795 NM_176795 Approved uc010qvx.2 P01112 OTTHUMG00000131919 ENST00000451590.1:c.182A>G 11.__UNKNOWN__:g.533874T>C ENSP00000407586:p.Gln61Arg B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2 __UNKNOWN__ CCDS7698.1 . . . . . . . . . . T 14.48 2.546606 0.45383 . . ENSG00000174775 ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189 D;D;D;D;D 0.83673 -1.75;-1.75;-1.75;-1.75;-1.75 3.64 3.64 0.41730 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85613 0.5737 M 0.90870 3.155 0.80722 D 1 B;B 0.21071 0.051;0.008 B;B 0.22152 0.022;0.038 D 0.85970 0.1476 10 0.66056 D 0.02 . 11.8872 0.52608 0.0:0.0:0.0:1.0 . 61;61 P01112-2;P01112 .;RASH_HUMAN R 61 ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R ENSP00000309845:Q61R Q - 2 0 HRAS 523874 1.000000 0.71417 0.985000 0.45067 0.482000 0.33219 7.727000 0.84838 1.662000 0.50781 0.459000 0.35465 CAG HRAS-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259403.2 - ENST00000451590.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY ELP4 26610 broad.mit.edu 37 11 31805046 31805046 + Missense_Mutation SNP G G A rs3026403 TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr11:31805046G>A ENST00000350638.5 + 10.0 1284 c.1249G>A c.(1249-1251)Gga>Aga p.G417R ELP4_ENST00000395934.2_3'UTR|ELP4_ENST00000379163.5_Missense_Mutation_p.R464Q NM_019040.3 NP_061913.3 Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 417.0 chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368) cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023) phosphorylase kinase regulator activity (GO:0008607) breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20.0 Lung SC(675;0.225) CATGATGGCCGGAGGCAAGAA 0.498 0 59.0 68.0 65.0 11 31805046.0 1941.0 4139.0 6080.0 SO:0001583 missense AJ276005 CCDS7875.2, CCDS73271.1, CCDS73272.1 11p13 2012-08-14 2012-08-08 2002-05-24 ENSG00000109911 ENSG00000109911 26610.0 26610.0 """Elongator acetyltransferase complex subunits""" 1171.0 protein-coding gene gene with protein product 606985 """chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)""" C11orf19 11889558, 11435442 Standard NM_019040 XM_005252865 Approved PAXNEB uc001mtb.3 Q96EB1 OTTHUMG00000142919 ENST00000350638.5:c.1249G>A 11.__UNKNOWN__:g.31805046G>A ENSP00000298937:p.Gly417Arg B4E3W0|E7EPZ6|Q9H4E8|Q9NX11 __UNKNOWN__ CCDS7875.2 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 18.22|18.22 3.575195|3.575195 0.65878|0.65878 .|. .|. ENSG00000109911|ENSG00000109911 ENST00000350638|ENST00000379163 T|T 0.41758|0.43688 0.99|0.94 5.73|5.73 0.681|0.681 0.17986|0.17986 .|. .|. .|. .|. .|. T|T 0.34366|0.34366 0.0895|0.0895 L|L 0.58669|0.58669 1.825|1.825 0.80722|0.80722 D|D 1|1 B|B 0.17268|0.16802 0.021|0.019 B|B 0.12837|0.04013 0.008|0.001 T|T 0.19192|0.19192 -1.0313|-1.0313 9|9 0.33940|0.87932 T|D 0.23|0 .|. 5.652|5.652 0.17622|0.17622 0.3912:0.1362:0.4726:0.0|0.3912:0.1362:0.4726:0.0 .|. 417|464 Q96EB1|B4E3W0 ELP4_HUMAN|. R|Q 417|464 ENSP00000298937:G417R|ENSP00000368461:R464Q ENSP00000298937:G417R|ENSP00000368461:R464Q G|R +|+ 1|2 0|0 ELP4|ELP4 31761622|31761622 0.999000|0.999000 0.42202|0.42202 0.999000|0.999000 0.59377|0.59377 0.996000|0.996000 0.88848|0.88848 1.254000|1.254000 0.32897|0.32897 0.156000|0.156000 0.19299|0.19299 0.557000|0.557000 0.71058|0.71058 GGA|CGG ELP4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000286640.1 + ENST00000350638.5 Missense_Mutation SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY TMEM126B 55863 broad.mit.edu 37 11 85342776 85342776 + Missense_Mutation SNP C C G TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr11:85342776C>G ENST00000358867.6 + 2.0 150 c.127C>G c.(127-129)Cta>Gta p.L43V TMEM126B_ENST00000534341.1_Missense_Mutation_p.L43V|TMEM126B_ENST00000393375.1_Missense_Mutation_p.L13V NM_018480.4 NP_060950.3 Q8IUX1 T126B_HUMAN transmembrane protein 126B 43.0 integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) kidney(1)|large_intestine(2)|lung(3)|prostate(1) 7.0 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) CAGTCCTTCTCTAGAAGATGC 0.343 0 59.0 56.0 57.0 11 85342776.0 2203.0 4299.0 6502.0 SO:0001583 missense CCDS8267.1, CCDS8267.2, CCDS53686.1 11q14.1 2013-05-24 ENSG00000171204 55863.0 55863.0 """Mitochondrial respiratory chain complex assembly factors""" 30883.0 protein-coding gene gene with protein product 615533 22982022 Standard NM_018480 NM_018480 Approved HT007 uc001pap.4 Q8IUX1 ENST00000358867.6:c.127C>G 11.__UNKNOWN__:g.85342776C>G ENSP00000351737:p.Leu43Val A8K535|A8MSS0|Q32Q09|Q8WVU3|Q96EP3|Q9NZ29 __UNKNOWN__ CCDS8267.2 . . . . . . . . . . C 2.802 -0.248928 0.05867 . . ENSG00000171204 ENST00000358867;ENST00000534341;ENST00000393375 T;T;T 0.54071 1.19;0.59;1.28 4.89 1.89 0.25635 . 1.056150 0.07358 N 0.883503 T 0.38108 0.1028 L 0.34521 1.04 0.09310 N 1 B;B 0.09022 0.001;0.002 B;B 0.11329 0.003;0.006 T 0.26087 -1.0113 9 . . . . 4.0656 0.09859 0.1529:0.4657:0.2972:0.0842 . 43;13 Q8IUX1;Q8IUX1-3 T126B_HUMAN;. V 43;43;13 ENSP00000351737:L43V;ENSP00000433471:L43V;ENSP00000377039:L13V . L + 1 2 TMEM126B 85020424 0.010000 0.17322 0.027000 0.17364 0.091000 0.18340 -0.598000 0.05706 0.326000 0.23384 -0.150000 0.13652 CTA TMEM126B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000392164.1 + ENST00000358867.6 Missense_Mutation SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY DMBT1 1755 broad.mit.edu 37 10 124402858 124402858 + Missense_Mutation SNP G G A TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr10:124402858G>A ENST00000338354.3 + 53.0 7292 c.7186G>A c.(7186-7188)Gtc>Atc p.V2396I DMBT1_ENST00000344338.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000368956.2_Missense_Mutation_p.V1768I|DMBT1_ENST00000368955.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000330163.4_Missense_Mutation_p.V1768I|DMBT1_ENST00000368909.3_Missense_Mutation_p.V2396I|DMBT1_ENST00000359586.6_Missense_Mutation_p.V1116I Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2396.0 defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589) calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375) breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72.0 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGTGGACGTCGTCCTGGGTCC 0.647 Ovarian(182;93 2026 18125 22222 38972) 0 62.0 65.0 64.0 10 124402858.0 2030.0 4165.0 6195.0 SO:0001583 missense CCDS44490.1, CCDS44491.1, CCDS44492.1 10q25.3-q26.1 2008-08-01 ENSG00000187908 ENSG00000187908 1755.0 1755.0 2926.0 protein-coding gene gene with protein product 601969 9288095, 17548659 Standard NM_004406 NM_004406 Approved GP340, muclin uc001lgk.1 Q9UGM3 OTTHUMG00000019185 ENST00000338354.3:c.7186G>A 10.__UNKNOWN__:g.124402858G>A ENSP00000342210:p.Val2396Ile A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9 __UNKNOWN__ . . . . . . . . . . G 11.70 1.717351 0.30413 . . ENSG00000187908 ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586 T;T;T;T;T;T;T 0.23950 1.93;1.91;1.88;1.93;1.91;1.88;1.9 5.39 2.56 0.30785 . 0.247806 0.20150 U 0.098180 T 0.14874 0.0359 L 0.27053 0.805 0.09310 N 1 P;P;B;B;B;B;B 0.37061 0.58;0.58;0.374;0.374;0.374;0.374;0.257 B;B;B;B;B;B;B 0.29942 0.109;0.066;0.066;0.066;0.066;0.066;0.03 T 0.08932 -1.0698 10 0.34782 T 0.22 . 10.54 0.45026 0.2657:0.0:0.7343:0.0 . 1116;2376;1645;2525;1768;2386;2396 F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3 .;.;.;.;.;.;DMBT1_HUMAN I 2396;2525;2396;2396;2396;2395;1768;2386;1768;1768;2396;2386;1768;542;1116 ENSP00000342210:V2396I;ENSP00000343175:V2386I;ENSP00000327747:V1768I;ENSP00000357905:V2396I;ENSP00000357951:V2386I;ENSP00000357952:V1768I;ENSP00000352593:V1116I ENSP00000331522:V1768I V + 1 0 DMBT1 124392848 0.102000 0.21896 0.125000 0.21846 0.946000 0.59487 0.380000 0.20602 0.277000 0.22141 0.655000 0.94253 GTC DMBT1-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000050792.2 + ENST00000338354.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY SCGB3A2 117156 broad.mit.edu 37 5 147261032 147261032 + Missense_Mutation SNP G G A TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr5:147261032G>A ENST00000296694.4 + 2.0 172 c.79G>A c.(79-81)Gtg>Atg p.V27M SCGB3A2_ENST00000504320.1_5'UTR|SCGB3A2_ENST00000514688.1_3'UTR|C5orf46_ENST00000510432.1_Intron NM_054023.4 NP_473364.1 Q96PL1 SG3A2_HUMAN secretoglobin, family 3A, member 2 27.0 endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 6.0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCAACAAAGTGCCCCTTCC 0.473 0 189.0 186.0 187.0 5 147261032.0 2203.0 4300.0 6503.0 SO:0001583 missense AF313455 CCDS4287.1 5q32 2011-12-14 ENSG00000164265 ENSG00000164265 117156.0 117156.0 """Secretoglobins""" 18391.0 protein-coding gene gene with protein product """uteroglobin-related protein 1"", ""pneumo secretory protein 1"", ""uteroglobin related protein 1""" 606531 11682631, 22155607 Standard NM_054023 NM_054023 Approved UGRP1, LU103, PNSP1 uc003lot.2 Q96PL1 OTTHUMG00000129729 ENST00000296694.4:c.79G>A 5.__UNKNOWN__:g.147261032G>A ENSP00000296694:p.Val27Met __UNKNOWN__ CCDS4287.1 . . . . . . . . . . G 10.40 1.338624 0.24253 . . ENSG00000164265 ENST00000296694 . . . 5.26 -10.5 0.00291 . 2.002980 0.02635 N 0.104764 T 0.35595 0.0937 . . . 0.09310 N 1 B 0.29085 0.232 B 0.27608 0.081 T 0.34179 -0.9839 8 0.54805 T 0.06 1.0E-4 14.6582 0.68850 0.0:0.1374:0.7295:0.1331 . 27 Q96PL1 SG3A2_HUMAN M 27 . ENSP00000296694:V27M V + 1 0 SCGB3A2 147241225 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -1.061000 0.03472 -1.907000 0.01087 -0.410000 0.06199 GTG SCGB3A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251939.1 + ENST00000296694.4 Missense_Mutation SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY AHNAK 79026 broad.mit.edu 37 11 62297449 62297449 + Missense_Mutation SNP T T C TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr11:62297449T>C ENST00000378024.4 - 5.0 4714 c.4440A>G c.(4438-4440)atA>atG p.I1480M AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1480.0 protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385) actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982) poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493) 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) 268.0 Melanoma(852;0.155) CAGGAGCTTTTATCTCTCCTT 0.423 0 163.0 169.0 167.0 11 62297449.0 2202.0 4299.0 6501.0 SO:0001583 missense M80899 CCDS31584.1, CCDS44625.1 11q12-q13 2008-02-05 2007-03-30 ENSG00000124942 ENSG00000124942 79026.0 79026.0 347.0 protein-coding gene gene with protein product """desmoyokin""" 103390 """AHNAK nucleoprotein (desmoyokin)""" 7987395, 12153988 Standard NM_024060 NM_024060 Approved MGC5395 uc001ntl.3 Q09666 OTTHUMG00000167558 ENST00000378024.4:c.4440A>G 11.__UNKNOWN__:g.62297449T>C ENSP00000367263:p.Ile1480Met A1A586 __UNKNOWN__ CCDS31584.1 . . . . . . . . . . N 0.013 -1.621323 0.00820 . . ENSG00000124942 ENST00000378024 T 0.00695 5.83 4.47 -6.78 0.01721 . . . . . T 0.00468 0.0015 N 0.17872 0.535 0.19775 N 0.99996 B 0.11235 0.004 B 0.12156 0.007 T 0.47275 -0.9130 9 0.19147 T 0.46 . 0.3103 0.00287 0.2511:0.2535:0.2514:0.244 . 1480 Q09666 AHNK_HUMAN M 1480 ENSP00000367263:I1480M ENSP00000367263:I1480M I - 3 3 AHNAK 62054025 . . 0.098000 0.21074 0.004000 0.04260 . . -1.179000 0.02737 -1.273000 0.01405 ATA AHNAK-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000395572.1 - ENST00000378024.4 Missense_Mutation SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY USP28 57646 broad.mit.edu 37 11 113699965 113699965 + Missense_Mutation SNP T T C TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr11:113699965T>C ENST00000003302.4 - 10.0 1081 c.1013A>G c.(1012-1014)gAt>gGt p.D338G USP28_ENST00000537706.1_Missense_Mutation_p.D338G|USP28_ENST00000544967.1_Missense_Mutation_p.D46G|USP28_ENST00000545540.1_Missense_Mutation_p.D213G|USP28_ENST00000260188.5_Missense_Mutation_p.D338G NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 338.0 USP. cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234) ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59.0 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) AAGCTCAACATCACCCTCCAC 0.478 Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765) 0 206.0 161.0 176.0 11 113699965.0 2201.0 4296.0 6497.0 SO:0001583 missense AB040948 CCDS31680.1, CCDS73394.1 11q23 2008-04-11 2005-08-08 ENSG00000048028 ENSG00000048028 57646.0 57646.0 """Ubiquitin-specific peptidases""" 12625.0 protein-coding gene gene with protein product 610748 """ubiquitin specific protease 28""" 12838346, 11597335 Standard XM_005271630 Approved KIAA1515 uc001poh.3 Q96RU2 OTTHUMG00000168205 ENST00000003302.4:c.1013A>G 11.__UNKNOWN__:g.113699965T>C ENSP00000003302:p.Asp338Gly B0YJC0|B0YJC1|Q9P213 __UNKNOWN__ CCDS31680.1 . . . . . . . . . . T 24.0 4.484177 0.84854 . . ENSG00000048028 ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475;ENST00000537706;ENST00000537642 T;T;T;T;T;T 0.73897 1.31;1.32;0.63;1.31;0.59;-0.79 5.36 5.36 0.76844 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2); 0.047799 0.85682 D 0.000000 T 0.78610 0.4310 M 0.69823 2.125 0.51482 D 0.99992 P;B;B;P 0.42161 0.772;0.263;0.254;0.554 P;B;B;B 0.45577 0.486;0.369;0.375;0.389 T 0.81669 -0.0828 10 0.72032 D 0.01 -17.7618 15.3591 0.74457 0.0:0.0:0.0:1.0 . 213;338;338;46 B4E3L3;Q6NZX9;Q96RU2;G3V1N5 .;.;UBP28_HUMAN;. G 338;338;46;213;102;338;237 ENSP00000003302:D338G;ENSP00000260188:D338G;ENSP00000442431:D46G;ENSP00000444991:D213G;ENSP00000442257:D102G;ENSP00000445743:D338G ENSP00000003302:D338G D - 2 0 USP28 113205175 1.000000 0.71417 0.991000 0.47740 0.881000 0.50899 7.673000 0.83973 2.020000 0.59435 0.379000 0.24179 GAT USP28-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398789.1 - ENST00000003302.4 Missense_Mutation SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY PHC3 80012 broad.mit.edu 37 3 169847313 169847313 + Missense_Mutation SNP G G T TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr3:169847313G>T ENST00000495893.2 - 8.0 978 c.947C>A c.(946-948)tCt>tAt p.S316Y PHC3_ENST00000467570.1_Missense_Mutation_p.S263Y|PHC3_ENST00000494943.1_Missense_Mutation_p.S304Y NM_024947.3 NP_079223.3 Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 304.0 multicellular organismal development (GO:0007275) actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26.0 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) TTTTATTAGAGAATGAGGCTG 0.343 0 140.0 135.0 137.0 3 169847313.0 1863.0 4098.0 5961.0 SO:0001583 missense CCDS46952.1 3q26.32 2014-01-28 2006-09-12 ENSG00000173889 ENSG00000173889 80012.0 80012.0 """Sterile alpha motif (SAM) domain containing""" 15682.0 protein-coding gene gene with protein product """early development regulator 3"", ""polyhomeotic like 3""" """polyhomeotic like 3 (Drosophila)""" 12167701, 12384788 Standard NM_024947 NM_024947 Approved EDR3, FLJ12967, FLJ12729, HPH3 uc003fgl.2 Q8NDX5 OTTHUMG00000158777 ENST00000495893.2:c.947C>A 3.__UNKNOWN__:g.169847313G>T ENSP00000420294:p.Ser316Tyr A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4 __UNKNOWN__ CCDS46952.1 . . . . . . . . . . G 16.61 3.170125 0.57584 . . ENSG00000173889 ENST00000494943;ENST00000495893;ENST00000467570;ENST00000484931 T;T 0.34472 1.39;1.36 5.41 5.41 0.78517 . 0.077463 0.56097 D 0.000035 T 0.43897 0.1268 L 0.50333 1.59 0.80722 D 1 D;P;P;P 0.60160 0.987;0.873;0.94;0.655 P;P;P;B 0.51229 0.663;0.528;0.564;0.4 T 0.13818 -1.0495 10 0.16420 T 0.52 -5.6452 18.8093 0.92052 0.0:0.0:1.0:0.0 . 263;263;304;316 B4E2T1;E7EX82;Q8NDX5;Q8NDX5-7 .;.;PHC3_HUMAN;. Y 304;316;263;142 ENSP00000420271:S304Y;ENSP00000420294:S316Y ENSP00000419089:S263Y S - 2 0 PHC3 171330007 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.374000 0.66167 2.549000 0.85964 0.561000 0.74099 TCT PHC3-008 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352186.3 - ENST00000495893.2 Missense_Mutation SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY ACAD10 80724 broad.mit.edu 37 12 112165863 112165863 + Missense_Mutation SNP A A G rs140075311 TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr12:112165863A>G ENST00000313698.4 + 9.0 1314 c.1159A>G c.(1159-1161)Ata>Gta p.I387V ACAD10_ENST00000455480.2_Missense_Mutation_p.I418V|ACAD10_ENST00000392636.2_Intron|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.I387V NM_025247.5 NP_079523.3 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 387.0 mitochondrion (GO:0005739) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47.0 CAGACGAGCCATATACACTGC 0.542 0 176.0 167.0 170.0 12 112165863.0 2203.0 4300.0 6503.0 SO:0001583 missense AY323912 CCDS31903.1, CCDS44973.1 12q24.12 2012-10-02 2010-04-30 ENSG00000111271 ENSG00000111271 80724.0 80724.0 21597.0 protein-coding gene gene with protein product 611181 """acyl-Coenzyme A dehydrogenase family, member 10""" 15560374 Standard NM_025247 NM_025247 Approved MGC5601 uc009zvx.3 Q6JQN1 OTTHUMG00000169602 ENST00000313698.4:c.1159A>G 12.__UNKNOWN__:g.112165863A>G ENSP00000325137:p.Ile387Val G3XAJ0|Q8N828|Q8NAP2|Q96BX5 __UNKNOWN__ CCDS31903.1 . . . . . . . . . . A 13.44 2.236961 0.39498 . . ENSG00000111271 ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698;ENST00000552706;ENST00000507683 T;T;T 0.30981 1.51;1.51;1.51 5.16 2.62 0.31277 Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1); 0.298701 0.34676 N 0.003762 T 0.21267 0.0512 L 0.35288 1.05 0.80722 D 1 B;B;B 0.11235 0.002;0.004;0.001 B;B;B 0.19666 0.026;0.008;0.007 T 0.04930 -1.0917 10 0.29301 T 0.29 . 8.8105 0.34965 0.8266:0.0:0.1734:0.0 . 418;387;387 G3XAJ0;Q6JQN1;Q6JQN1-2 .;ACD10_HUMAN;. V 387;387;418;387;125;125 ENSP00000446959:I387V;ENSP00000389813:I418V;ENSP00000325137:I387V ENSP00000325137:I387V I + 1 0 ACAD10 110650246 0.415000 0.25416 0.997000 0.53966 0.979000 0.70002 0.456000 0.21859 0.725000 0.32318 0.454000 0.30748 ATA ACAD10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000368307.1 + ENST00000313698.4 Missense_Mutation SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY PPL 5493 broad.mit.edu 37 16 4940302 4940302 + Silent SNP G G A rs150485802 TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr16:4940302G>A ENST00000345988.2 - 18.0 2285 c.2196C>T c.(2194-2196)taC>taT p.Y732Y PPL_ENST00000590782.2_Silent_p.Y730Y NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 732.0 keratinization (GO:0031424) cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) structural constituent of cytoskeleton (GO:0005200) 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) 62.0 GGAAGTGCTCGTAGGCTGCCT 0.592 0 A 0,4394 0,0,2197 104.0 84.0 91.0 2196 -6.2 0.0 16 dbSNP_134 91.0 3,8597 3.0+/-9.4 0,3,4297 yes coding-synonymous PPL NM_002705.4 0,3,6494 AA,AG,GG 0.0349,0.0,0.0231 732/1757 4940302.0 3,12991 2197.0 4300.0 6497.0 SO:0001819 synonymous_variant AF013717 CCDS10526.1 16p13.3 2008-02-05 ENSG00000118898 ENSG00000118898 5493.0 5493.0 9273.0 protein-coding gene gene with protein product 602871 9570964, 9521878 Standard NM_002705 NM_002705 Approved uc002cyd.1 O60437 OTTHUMG00000129528 ENST00000345988.2:c.2196C>T 16.__UNKNOWN__:g.4940302G>A O60314|O60454|Q14C98 __UNKNOWN__ CCDS10526.1 PPL-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000251715.1 - ENST00000345988.2 Silent SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY CXorf58 254158 broad.mit.edu 37 X 23956667 23956667 + Silent SNP T T A TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chrX:23956667T>A ENST00000379211.3 + 8.0 1338 c.789T>A c.(787-789)ggT>ggA p.G263G NM_001169574.1|NM_152761.2 NP_001163045.1|NP_689974.2 Q96LI9 CX058_HUMAN chromosome X open reading frame 58 263.0 breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1) 14.0 TTTCTAGGGGTCCATACTTAA 0.333 0 65.0 64.0 64.0 X 23956667.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK058173 CCDS14209.1 Xp22.11 2012-11-28 ENSG00000165182 ENSG00000165182 254158.0 254158.0 26356.0 protein-coding gene gene with protein product Standard NM_152761 NM_152761 Approved FLJ25444 uc004daz.1 Q96LI9 OTTHUMG00000021258 ENST00000379211.3:c.789T>A X.__UNKNOWN__:g.23956667T>A __UNKNOWN__ CCDS14209.1 CXorf58-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056071.1 + ENST00000379211.3 Silent SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY RP1-167F1.2 441133 bcgsc.ca 37 6 19613384 19613384 + RNA SNP C C T TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr6:19613384C>T ENST00000432171.2 - 0.0 366 CTCAGATCTTCGCAAATACTG 0.512 0 ENST00000432171.2: 6.__UNKNOWN__:g.19613384C>T __UNKNOWN__ RP1-167F1.2-001 KNOWN basic antisense antisense OTTHUMT00000039973.2 - ENST00000432171.2 RNA SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY Unknown 0 bcgsc.ca 37 6 154898083 154898083 + RNA SNP C C T TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr6:154898083C>T CNKSR3 (66290 upstream) : SCAF8 (156375 downstream) CTTTGCCACTCGACTTTTCAA 0.428 0 SO:0001628 intergenic_variant 6.__UNKNOWN__:g.154898083C>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY DCTN1 1639 ucsc.edu 37 2 74597614 74597614 + Missense_Mutation SNP C C T TCGA-W2-A7HD-01A-11D-A35I-08 TCGA-W2-A7HD-10D-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq face6668-e895-4c3e-90df-0458d0ca4b71 b47faef1-217c-4eb1-bca9-c8863ec1ab6c g.chr2:74597614C>T ENST00000361874.3 - 11.0 1423 c.1106G>A c.(1105-1107)cGc>cAc p.R369H DCTN1_ENST00000409868.1_Missense_Mutation_p.R352H|DCTN1_ENST00000409438.1_Missense_Mutation_p.R235H|DCTN1_ENST00000407639.2_Missense_Mutation_p.R235H|DCTN1_ENST00000394003.3_Missense_Mutation_p.R362H|DCTN1_ENST00000409240.1_Missense_Mutation_p.R332H|DCTN1_ENST00000409567.3_Missense_Mutation_p.R349H NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 369.0 activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399) cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922) motor activity (GO:0003774) 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) 45.0 ATCCTTCAGGCGGGCATTCTG 0.522 0 96.0 84.0 88.0 2 74597614.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1 2p13 2014-09-17 2010-06-24 ENSG00000204843 ENSG00000204843 1639.0 1639.0 2711.0 protein-coding gene gene with protein product """p150 glued homolog (Drosophila)""" 601143 """dynactin 1 (p150, Glued (Drosophila) homolog)""" 1828535 Standard NM_004082 NM_001190836 Approved uc002skx.3 Q14203 OTTHUMG00000129963 ENST00000361874.3:c.1106G>A 2.__UNKNOWN__:g.74597614C>T ENSP00000354791:p.Arg369His A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2 __UNKNOWN__ CCDS1939.1 . . . . . . . . . . C 29.1 4.974404 0.92919 . . ENSG00000204843 ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567 T;T;T;T;T;T;T 0.78003 -1.07;-1.07;-1.07;-1.07;-1.07;-1.14;-1.07 4.97 4.97 0.65823 . 0.000000 0.43579 D 0.000543 D 0.90796 0.7110 M 0.92604 3.325 0.80722 D 1 D;D;D;D;D;D 0.89917 1.0;1.0;0.999;1.0;1.0;0.999 D;D;D;D;D;D 0.83275 0.994;0.933;0.98;0.99;0.996;0.984 D 0.92879 0.6321 10 0.87932 D 0 -6.5655 17.1649 0.86812 0.0:1.0:0.0:0.0 . 349;332;369;362;235;235 E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4 .;.;DCTN1_HUMAN;.;.;. H 369;362;352;235;235;332;352;349 ENSP00000354791:R369H;ENSP00000377571:R362H;ENSP00000384844:R235H;ENSP00000387270:R235H;ENSP00000386406:R332H;ENSP00000387327:R352H;ENSP00000386843:R349H ENSP00000354791:R369H R - 2 0 DCTN1 74451122 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 7.530000 0.81962 2.587000 0.87381 0.650000 0.86243 CGC DCTN1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000252227.3 - ENST00000361874.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HD-Normal-SM-5EMMY RAB39B 116442 broad.mit.edu 37 X 154493536 154493536 + Missense_Mutation SNP A A C TCGA-W2-A7HE-01A-11D-A35I-08 TCGA-W2-A7HE-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1874e215-23e2-4990-97af-ab2ce3d029b9 3e485cf9-75ec-4d2c-90bc-1bbfed18c316 g.chrX:154493536A>C ENST00000369454.3 - 1.0 338 c.38T>G c.(37-39)gTc>gGc p.V13G NM_171998.2 NP_741995.1 Q96DA2 RB39B_HUMAN RAB39B, member RAS oncogene family 13.0 protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192) Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982) GTP binding (GO:0005525)|myosin V binding (GO:0031489) p.V13D(1) breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12) 19.0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ATCCCCGATGACAATGAGCCG 0.667 1 Substitution - Missense(1) large_intestine(1) 83.0 84.0 83.0 X 154493536.0 2203.0 4300.0 6503.0 SO:0001583 missense AY052478 CCDS14766.1 Xq28 2014-01-31 ENSG00000155961 ENSG00000155961 116442.0 116442.0 """RAB, member RAS oncogene""" 16499.0 protein-coding gene gene with protein product 300774 """mental retardation, X-linked 72""" MRX72 12438742, 20159109 Standard NM_171998 NM_171998 Approved uc004fne.3 Q96DA2 OTTHUMG00000022659 ENST00000369454.3:c.38T>G X.__UNKNOWN__:g.154493536A>C ENSP00000358466:p.Val13Gly Q5JT79|Q8NEX3 __UNKNOWN__ CCDS14766.1 . . . . . . . . . . A 24.0 4.477713 0.84640 . . ENSG00000155961 ENST00000369454 D 0.83163 -1.69 5.12 5.12 0.69794 Small GTP-binding protein domain (1); 0.000000 0.64402 D 0.000002 D 0.90960 0.7158 M 0.85299 2.745 0.80722 D 1 D 0.76494 0.999 D 0.72338 0.977 D 0.92146 0.5724 10 0.87932 D 0 . 12.0569 0.53540 1.0:0.0:0.0:0.0 . 13 Q96DA2 RB39B_HUMAN G 13 ENSP00000358466:V13G ENSP00000358466:V13G V - 2 0 RAB39B 154146730 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.419000 0.80179 1.820000 0.53075 0.486000 0.48141 GTC RAB39B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058792.1 - ENST00000369454.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HE-Normal-SM-5EMNG MALAT1 0 broad.mit.edu 37 11 65273581 65273581 + RNA SNP A A G TCGA-W2-A7HE-01A-11D-A35I-08 TCGA-W2-A7HE-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1874e215-23e2-4990-97af-ab2ce3d029b9 3e485cf9-75ec-4d2c-90bc-1bbfed18c316 g.chr11:65273581A>G ENST00000534336.1 + 0.0 8349 NR_002819.2 Q9UHZ2 MALAT_HUMAN metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) AAAAAAAAAAAGCAAAAGATG 0.413 0 53.0 57.0 56.0 11 65273581.0 874.0 1988.0 2862.0 AF001540 11q13.1 2013-12-11 2007-11-20 ENSG00000251562 ENSG00000251562 378938.0 378938.0 """Long non-coding RNAs"", ""-""" 29665.0 non-coding RNA RNA, long non-coding """metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47""" 607924 12970751, 22560368 Standard NR_002819 NR_002819 Approved PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA uc010roh.3 Q9UHZ2 OTTHUMG00000166322 ENST00000534336.1: 11.__UNKNOWN__:g.65273581A>G __UNKNOWN__ MALAT1-001 KNOWN basic lincRNA lincRNA OTTHUMT00000389143.1 + ENST00000534336.1 lincRNA SNP PCPG-TCGA-W2-A7HE-Normal-SM-5EMNG HPS3 84343 broad.mit.edu 37 3 148884979 148884979 + Silent SNP G G A TCGA-W2-A7HE-01A-11D-A35I-08 TCGA-W2-A7HE-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1874e215-23e2-4990-97af-ab2ce3d029b9 3e485cf9-75ec-4d2c-90bc-1bbfed18c316 g.chr3:148884979G>A ENST00000460120.1 + 14.0 2339 c.2253G>A c.(2251-2253)ccG>ccA p.P751P HPS3_ENST00000296051.2_Silent_p.P916P Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 916.0 organelle organization (GO:0006996)|pigmentation (GO:0043473) BLOC-2 complex (GO:0031084) breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34.0 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) AGAGATGCCCGGAGGCAGTCA 0.423 Hermansky-Pudlak syndrome 0 95.0 95.0 95.0 3 148884979.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant Familial Cancer Database HPS, HPS1-8 AY033141 CCDS3140.1 3q24 2014-06-18 ENSG00000163755 ENSG00000163755 84343.0 84343.0 15597.0 protein-coding gene gene with protein product 606118 11455388 Standard NM_032383 NM_032383 Approved SUTAL uc003ewu.1 Q969F9 OTTHUMG00000159548 ENST00000460120.1:c.2253G>A 3.__UNKNOWN__:g.148884979G>A A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608 __UNKNOWN__ HPS3-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000356153.1 + ENST00000460120.1 Silent SNP PCPG-TCGA-W2-A7HE-Normal-SM-5EMNG PCDHA10 0 broad.mit.edu 37 5 140236812 140236812 + Silent SNP G G A rs148283153 TCGA-W2-A7HE-01A-11D-A35I-08 TCGA-W2-A7HE-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1874e215-23e2-4990-97af-ab2ce3d029b9 3e485cf9-75ec-4d2c-90bc-1bbfed18c316 g.chr5:140236812G>A ENST00000307360.5 + 1.0 1179 c.1179G>A c.(1177-1179)ccG>ccA p.P393P PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.P393P|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018901.2 NP_061724.1 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 393.0 Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}. cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) calcium ion binding (GO:0005509) 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) 79.0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCACGTTCCGTTCAAGCTGG 0.567 0 145.0 127.0 133.0 5 140236812.0 2197.0 4273.0 6470.0 SO:0001819 synonymous_variant AF152475 CCDS34255.1, CCDS54921.1, CCDS75325.1 5q31 2010-11-26 ENSG00000250120 ENSG00000250120 56139.0 56139.0 """Cadherins / Protocadherins : Clustered""" 8664.0 other complex locus constituent """KIAA0345-like 4"", ""ortholog to mouse CNR8""" 606316 CNRS8 10380929 Standard NM_018901 NM_018901 Approved CNR8, CRNR8, CNRN8, PCDH-ALPHA10 Q9Y5I2 OTTHUMG00000163372 ENST00000307360.5:c.1179G>A 5.__UNKNOWN__:g.140236812G>A A1L493|O75280|Q9NRU2 __UNKNOWN__ CCDS54921.1 PCDHA10-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000372895.2 + ENST00000307360.5 Silent SNP PCPG-TCGA-W2-A7HE-Normal-SM-5EMNG RNF213 57674 broad.mit.edu 37 17 78333905 78333905 + Missense_Mutation SNP A A T TCGA-W2-A7HE-01A-11D-A35I-08 TCGA-W2-A7HE-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1874e215-23e2-4990-97af-ab2ce3d029b9 3e485cf9-75ec-4d2c-90bc-1bbfed18c316 g.chr17:78333905A>T ENST00000508628.2 + 39.0 11391 c.11246A>T c.(11245-11247)aAc>aTc p.N3749I RNF213_ENST00000582970.1_Missense_Mutation_p.N3700I|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.N1773I Q63HN8 RN213_HUMAN ring finger protein 213 3700.0 ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567) cytoplasm (GO:0005737)|membrane (GO:0016020) ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) 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) 130.0 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AACCACATGAACCTTTCCGAG 0.488 0 157.0 110.0 126.0 17 78333905.0 2203.0 4300.0 6503.0 SO:0001583 missense AK074030 CCDS58606.1 17q25.3 2013-01-09 2007-02-08 2007-02-08 ENSG00000173821 57674.0 57674.0 """RING-type (C3HC4) zinc fingers""" 14539.0 protein-coding gene gene with protein product 613768 """chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2""" C17orf27, KIAA1618, MYMY2 10997877, 21048783, 21799892 Standard NM_020914 NM_020954 Approved KIAA1554, NET57 uc021uen.2 Q63HN8 ENST00000508628.2:c.11246A>T 17.__UNKNOWN__:g.78333905A>T ENSP00000425956:p.Asn3749Ile C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8 __UNKNOWN__ . . . . . . . . . . A 8.339 0.828281 0.16749 . . ENSG00000173821 ENST00000508628;ENST00000411702;ENST00000336301 T 0.21361 2.01 5.39 -4.4 0.03600 . 1.105250 0.06592 N 0.752290 T 0.17534 0.0421 M 0.65975 2.015 0.09310 N 1 B;B 0.30973 0.302;0.059 B;B 0.30495 0.116;0.033 T 0.24012 -1.0172 10 0.22109 T 0.4 . 3.0083 0.06035 0.274:0.2878:0.3353:0.1029 . 3749;1773 C9JCP4;Q63HN8 .;RN213_HUMAN I 3700;3749;1773 ENSP00000338218:N1773I ENSP00000338218:N1773I N + 2 0 RNF213 75948500 0.000000 0.05858 0.000000 0.03702 0.019000 0.09904 -0.044000 0.12023 -1.344000 0.02216 -1.176000 0.01726 AAC RNF213-001 NOVEL basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000364861.3 + ENST00000508628.2 Missense_Mutation SNP PCPG-TCGA-W2-A7HE-Normal-SM-5EMNG LRRC28 123355 broad.mit.edu 37 15 99903465 99903465 + Missense_Mutation SNP C C A rs147857587 TCGA-W2-A7HE-01A-11D-A35I-08 TCGA-W2-A7HE-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1874e215-23e2-4990-97af-ab2ce3d029b9 3e485cf9-75ec-4d2c-90bc-1bbfed18c316 g.chr15:99903465C>A ENST00000331450.5 + 4.0 485 LRRC28_ENST00000447360.2_Intron|LRRC28_ENST00000301981.3_Missense_Mutation_p.H342Q|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.H273Q Q86X40 LRC28_HUMAN leucine rich repeat containing 28 endometrium(2)|large_intestine(3)|lung(6)|prostate(1) 12.0 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) CAGGGCTGCACCAGTGGTAAT 0.567 0 78.0 66.0 70.0 15 99903465.0 2197.0 4297.0 6494.0 SO:0001627 intron_variant AK091588 CCDS10380.1, CCDS66873.1 15q26.3 2004-06-29 ENSG00000168904 ENSG00000168904 123355.0 123355.0 28355.0 protein-coding gene gene with protein product 12975309 Standard NM_144598 XM_005254861 Approved MGC24976, FLJ34269, FLJ45242 uc002bva.1 Q86X40 OTTHUMG00000149854 ENST00000331450.5:c.210-22770C>A 15.__UNKNOWN__:g.99903465C>A A8KA22|Q6UY49|Q6ZSS6 __UNKNOWN__ . . . . . . . . . . C 24.7 4.559380 0.86335 . . ENSG00000168904 ENST00000301981;ENST00000422500 T;T 0.45668 0.89;1.32 5.76 5.76 0.90799 . 0.000000 0.85682 D 0.000000 T 0.56352 0.1979 L 0.56769 1.78 0.80722 D 1 D;D 0.71674 0.998;0.995 D;D 0.75484 0.986;0.979 T 0.47935 -0.9078 10 0.17369 T 0.5 . 12.216 0.54406 0.0:0.9143:0.0:0.0857 . 273;342 B4DHL3;Q86X40 .;LRC28_HUMAN Q 342;273 ENSP00000304923:H342Q;ENSP00000398606:H273Q ENSP00000304923:H342Q H + 3 2 LRRC28 97720988 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 2.891000 0.48617 2.718000 0.92993 0.650000 0.86243 CAC LRRC28-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000415753.1 + ENST00000331450.5 Intron SNP PCPG-TCGA-W2-A7HE-Normal-SM-5EMNG OR2A2 442361 broad.mit.edu 37 7 143807113 143807113 + Silent SNP G G A rs141248378 by1000genomes TCGA-W2-A7HE-01A-11D-A35I-08 TCGA-W2-A7HE-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1874e215-23e2-4990-97af-ab2ce3d029b9 3e485cf9-75ec-4d2c-90bc-1bbfed18c316 g.chr7:143807113G>A ENST00000408979.2 + 1.0 507 c.438G>A c.(436-438)acG>acA p.T146T NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 146.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.T146T(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22.0 Melanoma(164;0.0783) TGGTTCTCACGTCCTGGTCAT 0.517 G 8.0 0.0037 2184.0 0.01 0.9988 , , 0.0004 0.004 0.8744 LOWCOV,EXOME 0.0009 SNP 1 Substitution - coding silent(1) kidney(1) G 0,4134 0,0,2067 138.0 130.0 133.0 438 -7.2 0.0 7 dbSNP_134 133.0 1,8447 0,1,4223 no coding-synonymous OR2A2 NM_001005480.2 0,1,6290 AA,AG,GG 0.0118,0.0,0.0079 146/319 143807113.0 1,12581 2067.0 4224.0 6291.0 SO:0001819 synonymous_variant CCDS43671.1 7q35 2013-09-20 2004-03-10 ENSG00000221989 ENSG00000221989 442361.0 442361.0 """GPCR / Class A : Olfactory receptors""" 8230.0 protein-coding gene gene with protein product OR2A2P, OR2A17P Standard NM_001005480 Approved OST008 uc011ktz.2 Q6IF42 OTTHUMG00000158001 ENST00000408979.2:c.438G>A 7.__UNKNOWN__:g.143807113G>A B2RN85|Q8NGT6 __UNKNOWN__ CCDS43671.1 OR2A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000349978.1 + ENST00000408979.2 Silent SNP PCPG-TCGA-W2-A7HE-Normal-SM-5EMNG ABI2 10152 bcgsc.ca 37 2 204281776 204281776 + Silent SNP G G A TCGA-W2-A7HE-01A-11D-A35I-08 TCGA-W2-A7HE-10C-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 1874e215-23e2-4990-97af-ab2ce3d029b9 3e485cf9-75ec-4d2c-90bc-1bbfed18c316 g.chr2:204281776G>A ENST00000422511.2 + 10.0 1270 c.1239G>A c.(1237-1239)ccG>ccA p.P413P ABI2_ENST00000424558.1_Silent_p.P440P|ABI2_ENST00000261017.5_Silent_p.P408P|ABI2_ENST00000430418.1_Silent_p.P391P|ABI2_ENST00000261016.6_Silent_p.P334P|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_Silent_p.P446P|ABI2_ENST00000261018.7_Silent_p.P232P Q9NYB9 ABI2_HUMAN abl-interactor 2 446.0 Pro-rich. actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209) cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625) breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 15.0 AGGACCCACCGTGGGCTCCAC 0.468 0 86.0 85.0 85.0 2 204281776.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF260261 CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1 2q33 2010-09-20 2009-07-23 ENSG00000138443 ENSG00000138443 10152.0 10152.0 24011.0 protein-coding gene gene with protein product 606442 7590236, 10964520 Standard NM_005759 XM_005246217 Approved ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2 uc002uzz.3 Q9NYB9 OTTHUMG00000132879 ENST00000422511.2:c.1239G>A 2.__UNKNOWN__:g.204281776G>A B4DSN1|Q13147|Q13249|Q13801|Q9BV70 __UNKNOWN__ . . . . . . . . . . G 7.118 0.577450 0.13686 . . ENSG00000138443 ENST00000454023 . . . 6.03 -12.1 0.00011 . . . . . T 0.31167 0.0788 . . . 0.80722 D 1 . . . . . . T 0.39860 -0.9593 4 . . . -9.3339 2.1652 0.03835 0.1387:0.249:0.333:0.2793 . . . . H 226 . . R + 2 0 ABI2 203990021 0.000000 0.05858 0.160000 0.22671 0.832000 0.47134 -8.646000 0.00018 -2.302000 0.00657 -1.261000 0.01458 CGT ABI2-007 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000336179.2 + ENST00000422511.2 Silent SNP PCPG-TCGA-W2-A7HE-Normal-SM-5EMNG METTL22 79091 bcgsc.ca 37 16 8732984 8732984 + Missense_Mutation SNP A A G TCGA-W2-A7HE-01A-11D-A35I-08 TCGA-W2-A7HE-10C-01D-A35G-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 1874e215-23e2-4990-97af-ab2ce3d029b9 3e485cf9-75ec-4d2c-90bc-1bbfed18c316 g.chr16:8732984A>G ENST00000381920.3 + 6.0 995 c.737A>G c.(736-738)aAc>aGc p.N246S METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Missense_Mutation_p.N190S NM_024109.2 NP_077014.2 Q9BUU2 MET22_HUMAN methyltransferase like 22 246.0 nucleus (GO:0005634) methyltransferase activity (GO:0008168) large_intestine(5)|lung(4) 9.0 TGCCAGCGAAACATTGCCCTC 0.537 0 94.0 95.0 95.0 16 8732984.0 1979.0 4164.0 6143.0 SO:0001583 missense AK022495 CCDS10533.2 16p13.2 2014-07-15 2011-03-03 2011-03-03 ENSG00000067365 ENSG00000067365 79091.0 79091.0 28368.0 protein-coding gene gene with protein product 615261 """chromosome 16 open reading frame 68""" C16orf68 24140279 Standard NM_024109 XM_005255570 Approved FLJ12433,MGC2654 uc002cyz.3 Q9BUU2 OTTHUMG00000129694 ENST00000381920.3:c.737A>G 16.__UNKNOWN__:g.8732984A>G ENSP00000371345:p.Asn246Ser B2RD29|D3DUF2|Q6XYB4|Q9HA03 __UNKNOWN__ CCDS10533.2 . . . . . . . . . . A 21.0 4.082947 0.76642 . . ENSG00000067365 ENST00000381920 T 0.12984 2.63 4.85 4.85 0.62838 . 0.000000 0.85682 D 0.000000 T 0.37945 0.1022 M 0.79805 2.47 0.58432 D 0.99999 D;D 0.89917 1.0;1.0 D;D 0.97110 0.998;1.0 T 0.22800 -1.0206 10 0.59425 D 0.04 -22.3918 11.9116 0.52743 1.0:0.0:0.0:0.0 . 21;246 Q9BUU2-3;Q9BUU2 .;MET22_HUMAN S 246 ENSP00000371345:N246S ENSP00000371345:N246S N + 2 0 METTL22 8640485 1.000000 0.71417 0.601000 0.28877 0.989000 0.77384 6.409000 0.73289 2.034000 0.60081 0.379000 0.24179 AAC METTL22-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251901.1 + ENST00000381920.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HE-Normal-SM-5EMNG RAB32 10981 bcgsc.ca 37 6 146865106 146865106 + Missense_Mutation SNP G G T TCGA-W2-A7HE-01A-11D-A35I-08 TCGA-W2-A7HE-10C-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 1874e215-23e2-4990-97af-ab2ce3d029b9 3e485cf9-75ec-4d2c-90bc-1bbfed18c316 g.chr6:146865106G>T ENST00000367495.3 + 1.0 278 c.99G>T c.(97-99)gaG>gaT p.E33D NM_006834.3 NP_006825.1 Q13637 RAB32_HUMAN RAB32, member RAS oncogene family 33.0 antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335) AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 8.0 Ovarian(120;0.142) OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608) TGATCGGCGAGCTTGGCGTGG 0.701 0 54.0 47.0 49.0 6 146865106.0 2203.0 4300.0 6503.0 SO:0001583 missense U71127 CCDS5210.1 6q24.2 2010-08-20 ENSG00000118508 ENSG00000118508 10981.0 10981.0 """RAB, member RAS oncogene"", ""A-kinase anchor proteins""" 9772.0 protein-coding gene gene with protein product 612906 Standard NM_006834 NM_006834 Approved uc003qln.1 Q13637 OTTHUMG00000015755 ENST00000367495.3:c.99G>T 6.__UNKNOWN__:g.146865106G>T ENSP00000356465:p.Glu33Asp __UNKNOWN__ CCDS5210.1 . . . . . . . . . . G 0.653 -0.808820 0.02819 . . ENSG00000118508 ENST00000367495 T 0.74002 -0.8 4.7 0.3 0.15776 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 T 0.14657 0.0354 N 0.00666 -1.275 0.58432 D 0.999999 B 0.06786 0.001 B 0.17979 0.02 T 0.42172 -0.9467 10 0.02654 T 1 -18.0989 8.3975 0.32566 0.1693:0.1237:0.707:0.0 . 33 Q13637 RAB32_HUMAN D 33 ENSP00000356465:E33D ENSP00000356465:E33D E + 3 2 RAB32 146906799 1.000000 0.71417 0.157000 0.22605 0.008000 0.06430 1.346000 0.33964 0.327000 0.23409 0.650000 0.86243 GAG RAB32-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042579.1 + ENST00000367495.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HE-Normal-SM-5EMNG SACS 26278 broad.mit.edu 37 13 23909416 23909416 + Missense_Mutation SNP C C A TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr13:23909416C>A ENST00000382292.3 - 9.0 8872 c.8599G>T c.(8599-8601)Gcc>Tcc p.A2867S SACS_ENST00000402364.1_Missense_Mutation_p.A2117S|SACS_ENST00000382298.3_Missense_Mutation_p.A2867S Q9NZJ4 SACS_HUMAN sacsin molecular chaperone 2867.0 cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457) axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634) chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628) 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) 189.0 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) AAACAGAAGGCCCTATGGGGT 0.453 0 57.0 62.0 60.0 13 23909416.0 2203.0 4299.0 6502.0 SO:0001583 missense AF193556 CCDS9300.2 13q11 2014-06-13 2014-01-30 ENSG00000151835 ENSG00000151835 26278.0 26278.0 """Heat shock proteins / DNAJ (HSP40)""" 10519.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 138""" 604490 """spastic ataxia of Charlevoix-Saguenay (sacsin)""" 10610707, 15057823, 21726565 Standard NM_014363 NM_001278055 Approved ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138 uc001uon.3 Q9NZJ4 OTTHUMG00000016562 ENST00000382292.3:c.8599G>T 13.__UNKNOWN__:g.23909416C>A ENSP00000371729:p.Ala2867Ser O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9 __UNKNOWN__ CCDS9300.2 . . . . . . . . . . C 23.0 4.358185 0.82243 . . ENSG00000151835 ENST00000382292;ENST00000402364;ENST00000382298 D;D;D 0.90261 -2.51;-2.64;-2.51 5.4 5.4 0.78164 . 0.115652 0.64402 D 0.000018 D 0.91620 0.7352 M 0.69823 2.125 0.46437 D 0.999047 P 0.40050 0.7 B 0.42625 0.393 D 0.91769 0.5426 10 0.51188 T 0.08 . 19.1639 0.93546 0.0:1.0:0.0:0.0 . 2867 Q9NZJ4 SACS_HUMAN S 2867;2117;2867 ENSP00000371729:A2867S;ENSP00000385844:A2117S;ENSP00000371735:A2867S ENSP00000371729:A2867S A - 1 0 SACS 22807416 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 7.487000 0.81328 2.525000 0.85131 0.555000 0.69702 GCC SACS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044148.3 - ENST00000382292.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HF-Normal-SM-5EMNO DPY19L2P2 0 broad.mit.edu 37 7 102912190 102912190 + RNA SNP T T G TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr7:102912190T>G ENST00000312132.4 - 0.0 2389 Q6ZN68 D19P2_HUMAN DPY19L2 pseudogene 2 integral component of membrane (GO:0016021) transferase activity, transferring glycosyl groups (GO:0016757) TCTGGATAAATATGGAAGCGT 0.343 0 AL834175 7q22.1 2013-09-12 2013-09-12 ENSG00000170629 ENSG00000170629 349152.0 349152.0 21764.0 pseudogene pseudogene """dpy-19-like 2 pseudogene 2 (C. elegans)""" Standard NM_182634 NR_027768 Approved DKFZp434E092, FLJ36166 uc003vbh.4 Q6ZN68 OTTHUMG00000157200 ENST00000312132.4: 7.__UNKNOWN__:g.102912190T>G Q8N9V4|Q8ND62 __UNKNOWN__ DPY19L2P2-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000347877.1 - ENST00000312132.4 RNA SNP PCPG-TCGA-W2-A7HF-Normal-SM-5EMNO SSX3 10214 broad.mit.edu 37 X 48206947 48206947 + Missense_Mutation SNP C C A TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chrX:48206947C>A ENST00000298396.2 - 7.0 611 c.559G>T c.(559-561)Gat>Tat p.D187Y SSX3_ENST00000376895.1_Missense_Mutation_p.D99Y NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 187.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) nucleic acid binding (GO:0003676) endometrium(3)|large_intestine(1)|lung(9) 13.0 AGTTACTCATCATCTTCCTCA 0.502 Colon(37;227 826 19399 40970 48007) 0 354.0 305.0 322.0 X 48206947.0 2203.0 4300.0 6503.0 SO:0001583 missense U90840 CCDS14291.1 Xp11.23 2009-06-17 ENSG00000165584 ENSG00000165584 10214.0 10214.0 11337.0 protein-coding gene gene with protein product 300325 8697803, 9378559 Standard NM_021014 NM_021014 Approved CT5.3 uc004djd.1 Q99909 OTTHUMG00000021489 ENST00000298396.2:c.559G>T X.__UNKNOWN__:g.48206947C>A ENSP00000298396:p.Asp187Tyr O60223|Q5JQZ3|Q9BRW7 __UNKNOWN__ CCDS14291.1 . . . . . . . . . . c 11.28 1.592245 0.28357 . . ENSG00000165584 ENST00000298396;ENST00000376895 T;T 0.39787 2.46;1.06 1.86 1.86 0.25419 SSXRD motif (1); 0.439796 0.19437 N 0.114282 T 0.51686 0.1689 L 0.50333 1.59 0.18873 N 0.999989 D 0.89917 1.0 D 0.79784 0.993 T 0.23476 -1.0187 10 0.87932 D 0 . 6.5227 0.22285 0.0:1.0:0.0:0.0 . 187 Q99909 SSX3_HUMAN Y 187;99 ENSP00000298396:D187Y;ENSP00000366092:D99Y ENSP00000298396:D187Y D - 1 0 SSX3 48091891 0.005000 0.15991 0.047000 0.18901 0.036000 0.12997 0.474000 0.22148 1.205000 0.43262 0.358000 0.22013 GAT SSX3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056486.1 - ENST00000298396.2 Missense_Mutation SNP PCPG-TCGA-W2-A7HF-Normal-SM-5EMNO TUBB4A 10382 broad.mit.edu 37 19 6495551 6495551 + Missense_Mutation SNP C C T TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr19:6495551C>T ENST00000264071.2 - 4.0 1330 c.959G>A c.(958-960)cGc>cAc p.R320H TUBB4A_ENST00000540257.1_Missense_Mutation_p.R320H P04350 TBB4A_HUMAN tubulin, beta 4A class IVa 320.0 'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258) cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200) CATGGACATGCGGCCCCGGAA 0.637 0 114.0 97.0 103.0 19 6495551.0 2203.0 4300.0 6503.0 SO:0001583 missense AK075307 CCDS12168.1 19p13.3 2014-02-05 2011-10-11 2011-10-10 ENSG00000104833 ENSG00000104833 10382.0 10382.0 """Tubulins""" 20774.0 protein-coding gene gene with protein product """class IVa beta-tubulin""" 602662 """tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)""" TUBB4, DYT4 6865944, 6462917, 23595291 Standard NM_006087 NM_001289123 Approved beta-5 uc002mfg.1 P04350 ENST00000264071.2:c.959G>A 19.__UNKNOWN__:g.6495551C>T ENSP00000264071:p.Arg320His B3KQP4|Q969E5 __UNKNOWN__ CCDS12168.1 . . . . . . . . . . C 13.89 2.373060 0.42105 . . ENSG00000104833 ENST00000264071;ENST00000540257;ENST00000412858 D;D 0.84298 -1.83;-1.83 3.43 3.43 0.39272 . 0.000000 0.64402 D 0.000001 D 0.82852 0.5127 M 0.64630 1.985 0.52501 D 0.999955 B 0.12630 0.006 B 0.10450 0.005 T 0.82285 -0.0533 10 0.87932 D 0 . 13.6752 0.62449 0.0:1.0:0.0:0.0 . 320 P04350 TBB4A_HUMAN H 320;320;238 ENSP00000264071:R320H;ENSP00000443590:R320H ENSP00000264071:R320H R - 2 0 TUBB4 6446551 1.000000 0.71417 1.000000 0.80357 0.981000 0.71138 7.580000 0.82523 1.473000 0.48159 0.306000 0.20318 CGC TUBB4A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457841.1 - ENST00000264071.2 Missense_Mutation SNP PCPG-TCGA-W2-A7HF-Normal-SM-5EMNO AIM2 9447 broad.mit.edu 37 1 159033464 159033464 + Splice_Site SNP C C A TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr1:159033464C>A ENST00000368130.4 - 5.0 1105 c.817G>T c.(817-819)Gta>Tta p.V273L NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 273.0 HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}. activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209) AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802) breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16.0 all_hematologic(112;0.0429) TTTTCTGTTACCTATAAAAGA 0.383 0 85.0 90.0 88.0 1 159033464.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AF024714 CCDS1181.1 1q22 2008-07-18 ENSG00000163568 ENSG00000163568 9447.0 9447.0 357.0 protein-coding gene gene with protein product 604578 9242382 Standard NM_004833 NM_004833 Approved PYHIN4 uc001ftj.1 O14862 OTTHUMG00000037183 ENST00000368130.4:c.817-1G>T 1.__UNKNOWN__:g.159033464C>A A8K7M7|Q5T3V9|Q96FG9 __UNKNOWN__ CCDS1181.1 . . . . . . . . . . C 7.947 0.744087 0.15710 . . ENSG00000163568 ENST00000368130;ENST00000368129 T;T 0.14022 2.54;2.54 3.92 1.59 0.23543 HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1); 1.789980 0.03564 N 0.227459 T 0.03136 0.0092 N 0.22421 0.69 0.09310 N 1 B 0.21688 0.059 B 0.16722 0.016 T 0.39860 -0.9593 10 0.54805 T 0.06 -0.0704 5.2747 0.15643 0.0:0.2554:0.0:0.7446 . 273 O14862 AIM2_HUMAN L 273;136 ENSP00000357112:V273L;ENSP00000357111:V136L ENSP00000357111:V136L V - 1 0 AIM2 157300088 0.031000 0.19500 0.008000 0.14137 0.014000 0.08584 0.008000 0.13197 0.200000 0.20447 -0.367000 0.07326 GTA AIM2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090341.1 Missense_Mutation - ENST00000368130.4 Splice_Site SNP PCPG-TCGA-W2-A7HF-Normal-SM-5EMNO NINL 22981 broad.mit.edu 37 20 25459587 25459587 + Missense_Mutation SNP G G A TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr20:25459587G>A ENST00000278886.6 - 16.0 2246 c.2173C>T c.(2173-2175)Cgg>Tgg p.R725W NINL_ENST00000422516.1_Missense_Mutation_p.R725W NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 725.0 G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278) cytosol (GO:0005829)|microtubule (GO:0005874) calcium ion binding (GO:0005509) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57.0 CTGTGATGCCGCAGGGCCAGG 0.592 0 32.0 38.0 36.0 20 25459587.0 2203.0 4298.0 6501.0 SO:0001583 missense CCDS33452.1 20p11.22-p11.1 2013-01-10 ENSG00000101004 ENSG00000101004 22981.0 22981.0 """EF-hand domain containing""" 29163.0 protein-coding gene gene with protein product """ninein-like protein""" 609580 10231032 Standard NM_025176 XM_005260678 Approved KIAA0980, NLP uc002wux.1 Q9Y2I6 OTTHUMG00000032127 ENST00000278886.6:c.2173C>T 20.__UNKNOWN__:g.25459587G>A ENSP00000278886:p.Arg725Trp A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3 __UNKNOWN__ CCDS33452.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 12.31|12.31 1.898391|1.898391 0.33535|0.33535 .|. .|. ENSG00000101004|ENSG00000101004 ENST00000336104|ENST00000278886;ENST00000422516 .|T;T .|0.33438 .|1.51;1.41 4.12|4.12 -0.294|-0.294 0.12831|0.12831 .|. .|0.459125 .|0.21179 .|N .|0.078859 T|T 0.13200|0.13200 0.0320|0.0320 N|N 0.08118|0.08118 0|0 0.09310|0.09310 N|N 1|1 .|B;B .|0.17465 .|0.022;0.002 .|B;B .|0.10450 .|0.005;0.001 T|T 0.16424|0.16424 -1.0403|-1.0403 5|10 .|0.52906 .|T .|0.07 -22.6168|-22.6168 6.5405|6.5405 0.22377|0.22377 0.4812:0.0:0.5188:0.0|0.4812:0.0:0.5188:0.0 .|. .|725;725 .|Q9Y2I6-2;Q9Y2I6 .|.;NINL_HUMAN V|W 26|725 .|ENSP00000278886:R725W;ENSP00000410431:R725W .|ENSP00000278886:R725W A|R -|- 2|1 0|2 NINL|NINL 25407587|25407587 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.078000|0.078000 0.17371|0.17371 -0.351000|-0.351000 0.07711|0.07711 -0.015000|-0.015000 0.14150|0.14150 -0.137000|-0.137000 0.14449|0.14449 GCG|CGG NINL-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000078445.3 - ENST00000278886.6 Missense_Mutation SNP PCPG-TCGA-W2-A7HF-Normal-SM-5EMNO TAS2R60 338398 broad.mit.edu 37 7 143140670 143140670 + Missense_Mutation SNP T T C TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr7:143140670T>C ENST00000332690.1 + 1.0 125 c.125T>C c.(124-126)cTg>cCg p.L42P EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 42.0 sensory perception of bitter taste (GO:0050913) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31.0 Melanoma(164;0.172) ACTGCTGCTCTGGGCGTGGAG 0.502 0 240.0 216.0 224.0 7 143140670.0 2203.0 4300.0 6503.0 SO:0001583 missense AY114094 CCDS5885.1 7q35 2014-07-10 ENSG00000185899 ENSG00000185899 338398.0 338398.0 """Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors""" 20639.0 protein-coding gene gene with protein product 613968 12584440 Standard NM_177437 Approved T2R60 uc011ktg.2 P59551 OTTHUMG00000154891 ENST00000332690.1:c.125T>C 7.__UNKNOWN__:g.143140670T>C ENSP00000327724:p.Leu42Pro A4D2G8|Q645W8|Q7RTR7 __UNKNOWN__ CCDS5885.1 . . . . . . . . . . T 11.19 1.566252 0.27915 . . ENSG00000185899 ENST00000332690 T 0.44881 0.91 5.68 4.51 0.55191 . 0.849973 0.09990 U 0.729885 T 0.65344 0.2682 M 0.81341 2.54 0.24200 N 0.995511 D 0.89917 1.0 D 0.97110 1.0 T 0.50915 -0.8771 10 0.54805 T 0.06 . 9.0472 0.36354 0.1636:0.0:0.0:0.8364 . 42 P59551 T2R60_HUMAN P 42 ENSP00000327724:L42P ENSP00000327724:L42P L + 2 0 TAS2R60 142850792 0.046000 0.20272 0.007000 0.13788 0.017000 0.09413 1.989000 0.40707 0.967000 0.38186 0.533000 0.62120 CTG TAS2R60-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337541.1 + ENST00000332690.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HF-Normal-SM-5EMNO PCDHGA1 0 broad.mit.edu 37 5 140712578 140712578 + Missense_Mutation SNP C C T TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr5:140712578C>T ENST00000517417.1 + 1.0 2327 c.2327C>T c.(2326-2328)gCg>gTg p.A776V PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A776V NM_018912.2 NP_061735.1 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 776.0 homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78.0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCAACTATGCGGACACACTC 0.527 0 115.0 124.0 121.0 5 140712578.0 2203.0 4300.0 6503.0 SO:0001583 missense AF152318 CCDS54922.1 5q31 2010-01-26 ENSG00000204956 56114.0 56114.0 """Cadherins / Protocadherins : Clustered""" 8696.0 other protocadherin 606288 10380929 Standard NM_018912 NM_018912 Approved PCDH-GAMMA-A1 Q9Y5H4 ENST00000517417.1:c.2327C>T 5.__UNKNOWN__:g.140712578C>T ENSP00000431083:p.Ala776Val Q2M273|Q9Y5D6 __UNKNOWN__ CCDS54922.1 . . . . . . . . . . . 10.69 1.421617 0.25639 . . ENSG00000204956 ENST00000517417;ENST00000378105 T;T 0.50548 0.77;0.74 4.04 3.13 0.36017 . 0.814474 0.10297 N 0.691649 T 0.46151 0.1378 M 0.70842 2.15 0.09310 N 1 B;B 0.27380 0.177;0.111 B;B 0.28465 0.09;0.07 T 0.42716 -0.9435 10 0.46703 T 0.11 . 6.5483 0.22418 0.0:0.7109:0.1803:0.1089 . 776;776 Q9Y5H4-2;Q9Y5H4 .;PCDG1_HUMAN V 776 ENSP00000431083:A776V;ENSP00000367345:A776V ENSP00000367345:A776V A + 2 0 PCDHGA1 140692762 0.001000 0.12720 0.016000 0.15963 0.625000 0.37756 0.311000 0.19380 0.980000 0.38523 0.585000 0.79938 GCG PCDHGA1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000374737.1 + ENST00000517417.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HF-Normal-SM-5EMNO CSGALNACT1 55790 broad.mit.edu 37 8 19263389 19263389 + Missense_Mutation SNP C C T TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr8:19263389C>T ENST00000454498.2 - 10.0 2514 c.1501G>A c.(1501-1503)Gag>Aag p.E501K CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.E501K|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.E501K|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.E501K|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.E501K NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 501.0 anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276) Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622) acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31.0 Colorectal(111;0.182) TGGGATGCCTCGTTCATGGCC 0.552 0 160.0 132.0 142.0 8 19263389.0 2203.0 4300.0 6503.0 SO:0001583 missense AK002126 CCDS6010.1 8p21.3 2013-02-19 ENSG00000147408 55790.0 55790.0 """Beta 4-glycosyltransferases""" 24290.0 protein-coding gene gene with protein product """chondroitin beta1,4 N-acetylgalactosaminyltransferase""" 17145758, 12446672 Standard NM_018371 NM_018371 Approved CSGalNAcT-1, FLJ11264, ChGn uc011kyo.2 Q8TDX6 ENST00000454498.2:c.1501G>A 8.__UNKNOWN__:g.19263389C>T ENSP00000411816:p.Glu501Lys B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9 __UNKNOWN__ CCDS6010.1 . . . . . . . . . . C 36 5.871622 0.97049 . . ENSG00000147408 ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602 T;T;T;T;T 0.15017 2.46;2.46;2.46;2.46;2.46 5.91 5.91 0.95273 . 0.000000 0.85682 D 0.000000 T 0.43942 0.1270 M 0.76727 2.345 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.05419 -1.0886 10 0.29301 T 0.29 -43.9703 18.8621 0.92276 0.0:1.0:0.0:0.0 . 501 Q8TDX6 CGAT1_HUMAN K 501 ENSP00000411816:E501K;ENSP00000330805:E501K;ENSP00000310891:E501K;ENSP00000429809:E501K;ENSP00000442155:E501K ENSP00000310891:E501K E - 1 0 CSGALNACT1 19307669 1.000000 0.71417 1.000000 0.80357 0.985000 0.73830 7.420000 0.80191 2.802000 0.96397 0.655000 0.94253 GAG CSGALNACT1-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000375204.1 - ENST00000454498.2 Missense_Mutation SNP PCPG-TCGA-W2-A7HF-Normal-SM-5EMNO SMARCA4 6597 broad.mit.edu 37 19 11136124 11136124 + Missense_Mutation SNP G G C rs1801514 TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr19:11136124G>C ENST00000541122.2 + 23.0 3393 c.3108G>C c.(3106-3108)atG>atC p.M1036I SMARCA4_ENST00000344626.4_Missense_Mutation_p.M1036I|SMARCA4_ENST00000450717.3_Missense_Mutation_p.M1036I|SMARCA4_ENST00000444061.3_Missense_Mutation_p.M1036I|SMARCA4_ENST00000358026.2_Missense_Mutation_p.M1036I|SMARCA4_ENST00000413806.3_Missense_Mutation_p.M1036I|SMARCA4_ENST00000590574.1_Missense_Mutation_p.M1036I|SMARCA4_ENST00000429416.3_Missense_Mutation_p.M1036I|SMARCA4_ENST00000589677.1_Missense_Mutation_p.M1036I P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1036.0 M -> I (in dbSNP:rs1801514). aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570) extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514) androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714) 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) 163.0 all_lung(6;0.0512)|Lung NSC(9;0.0568) AGACCCTGATGAACACCATCA 0.637 """F, N, Mis""" NSCLC Rec yes 19 19p13.2 6597.0 """SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4""" E 1 Unknown(1) lung(1) 110.0 90.0 97.0 19 11136124.0 2203.0 4300.0 6503.0 SO:0001583 missense D26156 CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1 19p13.3 2014-09-17 2006-11-09 ENSG00000127616 ENSG00000127616 6597.0 6597.0 11100.0 protein-coding gene gene with protein product """SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4""" 603254 SNF2L4 8208605 Standard NM_003072 NM_003072 Approved hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786 uc010dxo.3 P51532 OTTHUMG00000169272 ENST00000541122.2:c.3108G>C 19.__UNKNOWN__:g.11136124G>C ENSP00000445036:p.Met1036Ile B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3 __UNKNOWN__ CCDS45972.1 . . . . . . . . . . G 28.5 4.928688 0.92389 . . ENSG00000127616 ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806 T;T;T;T;T;T;T 0.75154 -0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91 4.79 4.79 0.61399 SNF2-related (1); 0.000000 0.85682 D 0.000000 T 0.78253 0.4254 L 0.39020 1.185 0.58432 D 0.999999 P;P;P;P;P;B;P;P 0.43094 0.662;0.662;0.662;0.799;0.629;0.151;0.662;0.662 P;P;P;P;B;B;P;P 0.55222 0.643;0.544;0.544;0.771;0.326;0.118;0.643;0.643 T 0.80797 -0.1222 10 0.87932 D 0 -47.5382 16.7568 0.85502 0.0:0.0:1.0:0.0 . 1036;1036;1036;1036;1036;256;1036;1036 B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532 .;.;.;.;.;.;.;SMCA4_HUMAN I 1036;1036;1100;1036;1036;1036;1036;1036 ENSP00000395654:M1036I;ENSP00000350720:M1036I;ENSP00000343896:M1036I;ENSP00000445036:M1036I;ENSP00000392837:M1036I;ENSP00000397783:M1036I;ENSP00000414727:M1036I ENSP00000343896:M1036I M + 3 0 SMARCA4 10997124 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.565000 0.82337 2.486000 0.83907 0.655000 0.94253 ATG SMARCA4-005 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000403237.2 + ENST00000541122.2 Missense_Mutation SNP PCPG-TCGA-W2-A7HF-Normal-SM-5EMNO MYLK 4638 bcgsc.ca 37 3 123452795 123452795 + Missense_Mutation SNP C C T TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr3:123452795C>T ENST00000475616.1 - 7.0 1047 c.1048G>A c.(1048-1050)Gca>Aca p.A350T MYLK_ENST00000360772.3_Missense_Mutation_p.A350T|MYLK_ENST00000360304.3_Missense_Mutation_p.A350T|MYLK_ENST00000346322.5_Missense_Mutation_p.A350T|MYLK_ENST00000359169.1_Missense_Mutation_p.A350T Q15746 MYLK_HUMAN myosin light chain kinase 350.0 actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820) cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687) p.A350T(1)|p.A350P(1)|p.A350S(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) 113.0 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGAACTCTTGCGGCCTGCAGG 0.632 3 Substitution - Missense(3) lung(3) 72.0 79.0 76.0 3 123452795.0 2203.0 4300.0 6503.0 SO:0001583 missense X85337 CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1 3q21 2013-02-11 2008-01-23 ENSG00000065534 ENSG00000065534 4638.0 4638.0 2.7.11.18 """Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 7590.0 protein-coding gene gene with protein product """smooth muscle myosin light chain kinase""" 600922 """myosin, light polypeptide kinase""" 8575746 Standard NM_053025 NM_053026 Approved MLCK, smMLCK, MYLK1, MLCK1 uc003ego.3 Q15746 OTTHUMG00000141304 ENST00000475616.1:c.1048G>A 3.__UNKNOWN__:g.123452795C>T ENSP00000418335:p.Ala350Thr B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9 __UNKNOWN__ CCDS46896.1 . . . . . . . . . . C 9.192 1.026194 0.19512 . . ENSG00000065534 ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616 T;T;T;T;T 0.66099 -0.19;-0.14;-0.19;-0.09;-0.14 5.43 -7.78 0.01223 . . . . . T 0.36276 0.0961 L 0.27053 0.805 0.09310 N 0.999999 B;B;B;B;B 0.17038 0.02;0.001;0.02;0.0;0.005 B;B;B;B;B 0.13407 0.006;0.001;0.009;0.001;0.001 T 0.20472 -1.0274 9 0.14656 T 0.56 . 4.3246 0.11034 0.1071:0.2038:0.1012:0.5879 . 350;350;350;350;350 Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746 .;.;.;.;MYLK_HUMAN T 350 ENSP00000354004:A350T;ENSP00000353452:A350T;ENSP00000352088:A350T;ENSP00000320622:A350T;ENSP00000418335:A350T ENSP00000320622:A350T A - 1 0 MYLK 124935485 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 -0.939000 0.03933 -1.950000 0.01030 -0.844000 0.03045 GCA MYLK-004 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356464.1 - ENST00000475616.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HF-Normal-SM-5EMNO CAPN5 726 hgsc.bcm.edu 37 11 76804729 76804729 + Missense_Mutation SNP G G A rs57014785 byFrequency TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr11:76804729G>A ENST00000456580.2 + 4.0 424 c.287G>A c.(286-288)gGc>gAc p.G96D CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000278559.3_Splice_Site_p.G56D|CAPN5_ENST00000529629.1_Splice_Site_p.G56D O15484 CAN5_HUMAN calpain 5 56.0 Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}. proteolysis (GO:0006508)|signal transduction (GO:0007165) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925) calcium-dependent cysteine-type endopeptidase activity (GO:0004198) NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30.0 TCTCCGCAGGGCATCTGCGAG 0.637 A 31.0 0.01 0.06 2184.0 0.9984 , , 0.0018 0.015 0.9503 LOWCOV,EXOME 0.0017 SNP 0 A ASP/GLY 236,4158 6,224,1967 38.0 30.0 33.0 167 4.6 1.0 11 dbSNP_129 33.0 0,8578 0,0,4289 yes missense-near-splice CAPN5 NM_004055.4 94 6,224,6256 AA,AG,GG 0.0,5.371,1.8193 benign 56/641 76804729.0 236,12736 2197.0 4289.0 6486.0 SO:0001630 splice_region_variant CCDS8248.1 11q14 2014-01-29 ENSG00000149260 726.0 726.0 1482.0 protein-coding gene gene with protein product 602537 """vitreoretinopathy, neovascular inflammatory""" VRNI 9503024, 9367857, 23055945 Standard NM_004055 NM_004055 Approved nCL-3, HTRA3, ADNIV uc001oxx.3 O15484 ENST00000456580.2:c.286-1G>A 11.__UNKNOWN__:g.76804729G>A O00263 __UNKNOWN__ 31 0.014194139194139194 31 0.06300813008130081 0 0.0 0 0.0 0 0.0 A 7.727 0.698465 0.15106 0.05371 0.0 ENSG00000149260 ENST00000278559;ENST00000527066;ENST00000530987;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318 D;D;D;D 0.86769 -2.17;-2.17;-2.17;-2.17 4.57 4.57 0.56435 Peptidase C2, calpain, catalytic domain (3); 0.052602 0.85682 N 0.000000 T 0.10208 0.0250 N 0.00042 -2.475 0.26913 N 0.966848 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.06405 0.002;0.0;0.001;0.001 T 0.42749 -0.9433 10 0.10902 T 0.67 . 9.6295 0.39772 0.9172:0.0:0.0828:0.0 rs57014785;rs61742654 94;96;96;56 Q59GM2;E7EV01;Q6ZRM8;O15484 .;.;.;CAN5_HUMAN D 56;56;25;96;56;96;96 ENSP00000278559:G56D;ENSP00000435894:G56D;ENSP00000432332:G56D;ENSP00000409996:G96D ENSP00000278559:G56D G + 2 0 CAPN5 76482377 1.000000 0.71417 1.000000 0.80357 0.042000 0.13812 6.861000 0.75478 0.780000 0.33566 -0.442000 0.05670 GGC CAPN5-004 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000382568.1 Missense_Mutation + ENST00000456580.2 Splice_Site SNP PCPG-TCGA-W2-A7HF-Normal-SM-5EMNO POLR1A 25885 broad.mit.edu 37 2 86276075 86276075 + Missense_Mutation SNP T T C TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr2:86276075T>C ENST00000263857.6 - 18.0 2944 c.2566A>G c.(2566-2568)Agg>Ggg p.R856G POLR1A_ENST00000409681.1_Missense_Mutation_p.R856G O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 856.0 gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361) cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270) 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) 63.0 TTAAAATCCCTCTGGTCCTTG 0.473 0 122.0 116.0 118.0 2 86276075.0 1941.0 4143.0 6084.0 SO:0001583 missense AK025568 CCDS42706.1 2p11.2 2013-01-21 ENSG00000068654 ENSG00000068654 25885.0 25885.0 """RNA polymerase subunits""" 17264.0 protein-coding gene gene with protein product 9236775 Standard NM_015425 NM_015425 Approved DKFZP586M0122, FLJ21915, RPO1-4, RPA1 uc002sqs.3 O95602 OTTHUMG00000153165 ENST00000263857.6:c.2566A>G 2.__UNKNOWN__:g.86276075T>C ENSP00000263857:p.Arg856Gly B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9 __UNKNOWN__ CCDS42706.1 . . . . . . . . . . T 17.34 3.366143 0.61513 . . ENSG00000068654 ENST00000263857;ENST00000409681 T;T 0.76968 -1.06;-1.06 5.57 -0.358 0.12575 RNA polymerase Rpb1, domain 4 (1); 0.045170 0.85682 D 0.000000 T 0.76047 0.3933 L 0.39245 1.2 0.49915 D 0.999835 P 0.47677 0.899 P 0.52598 0.703 T 0.75077 -0.3445 10 0.46703 T 0.11 -33.0327 14.1585 0.65432 0.0:0.0:0.4979:0.5021 . 856 O95602 RPA1_HUMAN G 856 ENSP00000263857:R856G;ENSP00000386300:R856G ENSP00000263857:R856G R - 1 2 POLR1A 86129586 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 1.711000 0.37930 0.077000 0.16863 0.533000 0.62120 AGG POLR1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000329830.2 - ENST00000263857.6 Missense_Mutation SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG GSTA3 2940 broad.mit.edu 37 6 52762673 52762673 + Missense_Mutation SNP A A T TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr6:52762673A>T ENST00000211122.3 - 6.0 561 c.496T>A c.(496-498)Tat>Aat p.Y166N GSTA3_ENST00000370968.1_Missense_Mutation_p.Y116N NM_000847.4 NP_000838.3 Q16772 GSTA3_HUMAN glutathione S-transferase alpha 3 166.0 GST C-terminal. glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) glutathione transferase activity (GO:0004364) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2) 10.0 Lung NSC(77;0.0912) Glutathione(DB00143) TCTTCCACATAGTAGAGAAGT 0.512 0 165.0 146.0 153.0 6 52762673.0 2203.0 4300.0 6503.0 SO:0001583 missense AF020919 CCDS4947.1 6p12.2 2012-06-21 2008-11-26 ENSG00000174156 ENSG00000174156 2940.0 2940.0 2.5.1.18 """Glutathione S-transferases / Soluble""" 4628.0 protein-coding gene gene with protein product 605449 """glutathione S-transferase A3""" 8307579, 9480897 Standard NM_000847 Approved uc003pbb.3 Q16772 OTTHUMG00000014865 ENST00000211122.3:c.496T>A 6.__UNKNOWN__:g.52762673A>T ENSP00000211122:p.Tyr166Asn O43468|Q068V6|Q8WWA8|Q9H415 __UNKNOWN__ CCDS4947.1 . . . . . . . . . . A 2.549 -0.304552 0.05495 . . ENSG00000174156 ENST00000370968;ENST00000211122;ENST00000431899 T;T;T 0.12361 4.52;4.52;2.69 3.91 -5.39 0.02664 Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1); 0.484707 0.22830 N 0.055104 T 0.01765 0.0056 L 0.28192 0.835 0.09310 N 1 B 0.12013 0.005 B 0.14578 0.011 T 0.39461 -0.9613 10 0.32370 T 0.25 . 2.4846 0.04595 0.1689:0.2022:0.0865:0.5424 . 166 Q16772 GSTA3_HUMAN N 116;166;98 ENSP00000360007:Y116N;ENSP00000211122:Y166N;ENSP00000399142:Y98N ENSP00000211122:Y166N Y - 1 0 GSTA3 52870632 0.000000 0.05858 0.006000 0.13384 0.007000 0.05969 -0.191000 0.09601 -0.524000 0.06400 -1.142000 0.01873 TAT GSTA3-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040933.1 - ENST00000211122.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG RNLS 55328 broad.mit.edu 37 10 90122340 90122340 + Missense_Mutation SNP G G T TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr10:90122340G>T ENST00000331772.4 - 5.0 691 c.669C>A c.(667-669)ttC>ttA p.F223L RNLS_ENST00000437752.1_Missense_Mutation_p.F140L|RNLS_ENST00000371947.3_Missense_Mutation_p.F223L|RNLS_ENST00000466945.1_5'UTR NM_001031709.2 NP_001026879.2 Q5VYX0 RNLS_HUMAN renalase, FAD-dependent amine oxidase 223.0 cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074) extracellular space (GO:0005615) oxidoreductase activity (GO:0016491) breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7.0 CAATGGAGACGAAGCGTATGC 0.438 0 165.0 155.0 158.0 10 90122340.0 2203.0 4300.0 6503.0 SO:0001583 missense BC005364 CCDS7388.1, CCDS31239.1 10q23.31 2009-04-22 2009-04-22 2009-04-22 ENSG00000184719 ENSG00000184719 55328.0 55328.0 25641.0 protein-coding gene gene with protein product 609360 """chromosome 10 open reading frame 59""" C10orf59 15841207, 17565281 Standard NM_018363 NM_001031709 Approved FLJ11218, renalase uc001kfe.3 Q5VYX0 OTTHUMG00000018692 ENST00000331772.4:c.669C>A 10.__UNKNOWN__:g.90122340G>T ENSP00000332530:p.Phe223Leu Q9BS33|Q9NUP8 __UNKNOWN__ CCDS31239.1 . . . . . . . . . . G 24.1 4.493953 0.84962 . . ENSG00000184719 ENST00000371947;ENST00000437752;ENST00000331772 D;T;D 0.92199 -2.99;0.76;-2.99 6.07 5.17 0.71159 Amine oxidase (1); 0.047974 0.85682 D 0.000000 D 0.95595 0.8568 M 0.78049 2.395 0.58432 D 0.999999 D;D;D 0.89917 1.0;1.0;0.999 D;D;D 0.87578 0.998;0.987;0.954 D 0.95124 0.8249 10 0.41790 T 0.15 . 14.2474 0.65997 0.0724:0.0:0.9276:0.0 . 140;223;223 B4DJW3;Q5VYX0;Q5VYX0-2 .;RNLS_HUMAN;. L 223;140;223 ENSP00000361015:F223L;ENSP00000387577:F140L;ENSP00000332530:F223L ENSP00000332530:F223L F - 3 2 RNLS 90112320 1.000000 0.71417 0.997000 0.53966 0.986000 0.74619 5.552000 0.67281 1.576000 0.49790 0.585000 0.79938 TTC RNLS-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049250.1 - ENST00000331772.4 Missense_Mutation SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG TM4SF2 6103 broad.mit.edu 37 X 38146339 38146339 + Missense_Mutation SNP T T G TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chrX:38146339T>G ENST00000465127.1 + 4.0 278 RPGR_ENST00000342811.3_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.E638A|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 11.0 TGCCTTGCCTTCACTCACCTC 0.483 0 317.0 229.0 259.0 X 38146339.0 2202.0 4300.0 6502.0 SO:0001627 intron_variant ENST00000465127.1:c.172-379036T>G X.__UNKNOWN__:g.38146339T>G __UNKNOWN__ . . . . . . . . . . t 9.574 1.121785 0.20877 . . ENSG00000156313 ENST00000378505 T 0.39056 1.1 3.0 3.0 0.34707 . 2.361020 0.03516 U 0.220324 T 0.39545 0.1082 M 0.62723 1.935 0.80722 D 1 P 0.37330 0.59 B 0.27262 0.078 T 0.45614 -0.9249 10 0.66056 D 0.02 . 6.985 0.24723 0.0:0.0:0.2304:0.7696 . 638 E9PE28 . A 638 ENSP00000367766:E638A ENSP00000367766:E638A E - 2 0 RPGR 38031283 0.919000 0.31177 0.864000 0.33941 0.388000 0.30384 0.046000 0.14035 1.038000 0.40049 0.289000 0.19496 GAA TM4SF2-001 PUTATIVE basic|appris_principal|readthrough_transcript protein_coding protein_coding OTTHUMT00000363378.1 + ENST00000465127.1 Intron SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG FUT5 2527 broad.mit.edu 37 19 5867557 5867557 + Silent SNP A A G TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr19:5867557A>G ENST00000588525.1 - 2.0 267 c.180T>C c.(178-180)aaT>aaC p.N60N FUT5_ENST00000252675.5_Silent_p.N60N NM_002034.2 NP_002025.2 Q11128 FUT5_HUMAN fucosyltransferase 5 (alpha (1,3) fucosyltransferase) 60.0 carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12.0 AGCGGGACCCATTGGGAGCCC 0.632 0 37.0 37.0 37.0 19 5867557.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS12154.1 19p13.3 2013-02-26 ENSG00000130383 2527.0 2527.0 2.4.1.65 """Fucosyltransferases""" 4016.0 protein-coding gene gene with protein product 136835 1740457 Standard NM_002034 NM_002034 Approved FUC-TV uc002mdo.4 Q11128 OTTHUMG00000180616 ENST00000588525.1:c.180T>C 19.__UNKNOWN__:g.5867557A>G A8K4X2 __UNKNOWN__ CCDS12154.1 FUT5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452213.1 - ENST00000588525.1 Silent SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG SCN2A 6326 broad.mit.edu 37 2 166172011 166172011 + Missense_Mutation SNP A A G TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr2:166172011A>G ENST00000375437.2 + 11.0 1704 c.1414A>G c.(1414-1416)Aga>Gga p.R472G SCN2A_ENST00000375427.2_Missense_Mutation_p.R472G|SCN2A_ENST00000283256.6_Missense_Mutation_p.R472G|SCN2A_ENST00000357398.3_Missense_Mutation_p.R472G NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 472.0 intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518) voltage-gated sodium channel activity (GO:0005248) 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) 118.0 Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909) TGCTGAATCAAGAGACTTCAG 0.413 0 62.0 69.0 67.0 2 166172011.0 2203.0 4299.0 6502.0 SO:0001583 missense AB208888 CCDS33313.1, CCDS33314.1 2q24.3 2012-02-26 2007-01-23 2007-01-23 ENSG00000136531 ENSG00000136531 6326.0 6326.0 """Sodium channels"", ""Voltage-gated ion channels / Sodium channels""" 10588.0 protein-coding gene gene with protein product 182390 """sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide""" SCN2A1, SCN2A2 1317301, 16382098 Standard NM_021007 XM_005246753 Approved Nav1.2, HBSCII, HBSCI uc002ude.3 Q99250 OTTHUMG00000044172 ENST00000375437.2:c.1414A>G 2.__UNKNOWN__:g.166172011A>G ENSP00000364586:p.Arg472Gly A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0 __UNKNOWN__ CCDS33314.1 . . . . . . . . . . A 13.18 2.159699 0.38119 . . ENSG00000136531 ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427 D;D;D;D;D 0.96427 -4.01;-3.99;-3.99;-3.99;-3.99 5.9 5.9 0.94986 . 0.000000 0.64402 D 0.000002 D 0.93207 0.7836 L 0.41824 1.3 0.32828 D 0.503632 B;P 0.39071 0.409;0.658 B;B 0.39590 0.237;0.304 D 0.93927 0.7211 10 0.25751 T 0.34 . 11.7228 0.51691 0.7302:0.2697:0.0:0.0 . 472;472 Q99250-2;Q99250 .;SCN2A_HUMAN G 472 ENSP00000406454:R472G;ENSP00000364586:R472G;ENSP00000349973:R472G;ENSP00000283256:R472G;ENSP00000364576:R472G ENSP00000283256:R472G R + 1 2 SCN2A 165880257 0.998000 0.40836 0.988000 0.46212 0.900000 0.52787 3.900000 0.56295 2.251000 0.74343 0.528000 0.53228 AGA SCN2A-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000102659.2 + ENST00000375437.2 Missense_Mutation SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG PAQR3 152559 broad.mit.edu 37 4 79860329 79860329 + Missense_Mutation SNP T T C TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr4:79860329T>C ENST00000512733.1 - 1.0 263 c.50A>G c.(49-51)tAc>tGc p.Y17C PAQR3_ENST00000380645.4_Missense_Mutation_p.Y17C|PAQR3_ENST00000295462.3_Missense_Mutation_p.Y17C NM_001040202.1 NP_001035292.1 Q6TCH7 PAQR3_HUMAN progestin and adipoQ receptor family member III 17.0 negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) receptor activity (GO:0004872) breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 8.0 CCAGTACTGGTAGCTGCCCAG 0.672 0 76.0 74.0 75.0 4 79860329.0 2203.0 4300.0 6503.0 SO:0001583 missense AK055774 CCDS34020.1 4q21 2008-02-05 ENSG00000163291 152559.0 152559.0 30130.0 protein-coding gene gene with protein product 614577 16044242 Standard NM_177453 XM_006714104 Approved uc003hlp.1 Q6TCH7 ENST00000512733.1:c.50A>G 4.__UNKNOWN__:g.79860329T>C ENSP00000421981:p.Tyr17Cys A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9 __UNKNOWN__ CCDS34020.1 . . . . . . . . . . T 22.3 4.270433 0.80469 . . ENSG00000163291 ENST00000295462;ENST00000512733;ENST00000380645 T;T 0.35048 1.8;1.33 4.16 4.16 0.48862 . 0.000000 0.85682 D 0.000000 T 0.49270 0.1547 L 0.40543 1.245 0.80722 D 1 D 0.76494 0.999 D 0.70716 0.97 T 0.52953 -0.8506 10 0.87932 D 0 -19.1189 13.6428 0.62263 0.0:0.0:0.0:1.0 . 17 Q6TCH7 PAQR3_HUMAN C 17 ENSP00000421981:Y17C;ENSP00000370019:Y17C ENSP00000295462:Y17C Y - 2 0 PAQR3 80079353 1.000000 0.71417 1.000000 0.80357 0.595000 0.36748 7.079000 0.76829 1.862000 0.54008 0.460000 0.39030 TAC PAQR3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000363442.1 - ENST00000512733.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG NEDD9 4739 broad.mit.edu 37 6 11213930 11213930 + Missense_Mutation SNP C C T TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr6:11213930C>T ENST00000379446.5 - 2.0 209 c.43G>A c.(43-45)Gtc>Atc p.V15I NEDD9_ENST00000379433.5_Missense_Mutation_p.V15I|NEDD9_ENST00000504387.1_Missense_Mutation_p.V15I|RP3-510L9.1_ENST00000500636.2_RNA NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 15.0 SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}. actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922) endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26.0 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) CACTCTGGGACATTGTCATAT 0.517 0 91.0 83.0 85.0 6 11213930.0 2203.0 4300.0 6503.0 SO:0001583 missense L43821 CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1 6p25-p24 2011-04-13 ENSG00000111859 ENSG00000111859 4739.0 4739.0 """Cas scaffolding proteins""" 7733.0 protein-coding gene gene with protein product """Cas scaffolding protein family member 2"", ""Cas-like""" 602265 Standard NM_006403 NM_182966 Approved HEF1, CAS-L, CASS2 uc003mzv.2 Q14511 OTTHUMG00000014255 ENST00000379446.5:c.43G>A 6.__UNKNOWN__:g.11213930C>T ENSP00000368759:p.Val15Ile A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0 __UNKNOWN__ CCDS4520.1 . . . . . . . . . . C 18.31 3.594812 0.66219 . . ENSG00000111859 ENST00000379446;ENST00000504387;ENST00000379433;ENST00000513989;ENST00000397378 T;T;T;T;T 0.49139 0.79;0.79;0.79;0.79;1.94 6.17 6.17 0.99709 Src homology-3 domain (4); 0.106561 0.64402 D 0.000004 T 0.51449 0.1675 L 0.37850 1.14 0.58432 D 0.999996 P;D;P 0.69078 0.539;0.997;0.747 B;D;P 0.79108 0.316;0.992;0.487 T 0.17623 -1.0363 10 0.18276 T 0.48 -37.8106 20.8794 0.99867 0.0:1.0:0.0:0.0 . 15;15;15 G5E9Y9;Q5XKI0;Q14511 .;.;CASL_HUMAN I 15;15;15;9;15 ENSP00000368759:V15I;ENSP00000422871:V15I;ENSP00000368745:V15I;ENSP00000421282:V9I;ENSP00000380534:V15I ENSP00000368745:V15I V - 1 0 NEDD9 11321916 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 2.435000 0.44811 2.941000 0.99782 0.655000 0.94253 GTC NEDD9-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000039853.2 - ENST00000379446.5 Missense_Mutation SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG CTCF 10664 broad.mit.edu 37 16 67645506 67645506 + Missense_Mutation SNP T T G TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr16:67645506T>G ENST00000264010.4 + 3.0 1215 c.771T>G c.(769-771)atT>atG p.I257M CTCF_ENST00000401394.1_Intron NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 257.0 chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030) chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270) 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) 79.0 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) CAACAAAAATTAAAAAGAAAG 0.373 Colon(175;1200 1966 6945 23069 27405) 0 51.0 56.0 54.0 16 67645506.0 2188.0 4272.0 6460.0 SO:0001583 missense U25435 CCDS10841.1, CCDS54029.1 16q21-q22.3 2013-01-08 ENSG00000102974 ENSG00000102974 10664.0 10664.0 """Zinc fingers, C2H2-type""" 13723.0 protein-coding gene gene with protein product """11 zinc finger transcriptional repressor""" 604167 8649389, 18550811 Standard NM_006565 NM_006565 Approved uc002etl.3 P49711 OTTHUMG00000137539 ENST00000264010.4:c.771T>G 16.__UNKNOWN__:g.67645506T>G ENSP00000264010:p.Ile257Met B5MC38|Q53XI7|Q59EL8 __UNKNOWN__ CCDS10841.1 . . . . . . . . . . T 15.47 2.844560 0.51164 . . ENSG00000102974 ENST00000264010 T 0.09073 3.02 5.4 4.28 0.50868 . 0.000000 0.64402 D 0.000001 T 0.13970 0.0338 N 0.19112 0.55 0.80722 D 1 D 0.65815 0.995 D 0.75484 0.986 T 0.10245 -1.0638 10 0.33141 T 0.24 . 11.6595 0.51339 0.0:0.0708:0.0:0.9292 . 257 P49711 CTCF_HUMAN M 257 ENSP00000264010:I257M ENSP00000264010:I257M I + 3 3 CTCF 66203007 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 1.413000 0.34725 2.271000 0.75665 0.533000 0.62120 ATT CTCF-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268870.2 + ENST00000264010.4 Missense_Mutation SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG CPNE5 57699 broad.mit.edu 37 6 36767798 36767798 + Missense_Mutation SNP C C T TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr6:36767798C>T ENST00000244751.2 - 4.0 857 c.233G>A c.(232-234)cGc>cAc p.R78H NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 78.0 C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}. extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025) p.R78H(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25.0 AATGAACTTGCGCACGAAGTC 0.547 1 Substitution - Missense(1) kidney(1) 98.0 83.0 88.0 6 36767798.0 2203.0 4300.0 6503.0 SO:0001583 missense H09181 CCDS4825.1 6p21.2 2010-05-28 ENSG00000124772 ENSG00000124772 57699.0 57699.0 2318.0 protein-coding gene gene with protein product 604209 9430674 Standard NM_020939 NM_020939 Approved CPN5, COPN5, KIAA1599 uc003omr.1 Q9HCH3 OTTHUMG00000014602 ENST00000244751.2:c.233G>A 6.__UNKNOWN__:g.36767798C>T ENSP00000244751:p.Arg78His Q7Z6C8 __UNKNOWN__ CCDS4825.1 . . . . . . . . . . C 17.47 3.398773 0.62177 . . ENSG00000124772 ENST00000244751 T 0.69175 -0.38 5.03 5.03 0.67393 C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1); 0.065499 0.64402 D 0.000007 T 0.55816 0.1944 M 0.62723 1.935 0.80722 D 1 B 0.28820 0.224 B 0.30572 0.117 T 0.64101 -0.6486 10 0.72032 D 0.01 . 15.8421 0.78857 0.0:1.0:0.0:0.0 . 78 Q9HCH3 CPNE5_HUMAN H 78 ENSP00000244751:R78H ENSP00000244751:R78H R - 2 0 CPNE5 36875776 1.000000 0.71417 1.000000 0.80357 0.773000 0.43773 5.778000 0.68940 2.315000 0.78130 0.561000 0.74099 CGC CPNE5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040351.1 - ENST00000244751.2 Missense_Mutation SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG OAS2 0 broad.mit.edu 37 12 113442843 113442843 + Silent SNP G G A TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr12:113442843G>A ENST00000342315.4 + 7.0 1498 c.1284G>A c.(1282-1284)cgG>cgA p.R428R RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Silent_p.R428R NM_016817.2 NP_058197.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 428.0 OAS domain 2. cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) 2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270) NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28.0 AAAACGAGCGGCACAAAATCG 0.502 Pancreas(199;709 2232 18410 33584 35052) 0 85.0 79.0 81.0 12 113442843.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant M87284 CCDS31906.1, CCDS41839.1, CCDS44982.1 12q24.2 2008-05-02 2002-08-29 ENSG00000111335 4939.0 8087.0 protein-coding gene gene with protein product 603350 """2'-5'-oligoadenylate synthetase 2 (69-71 kD)""" 9790745 Standard NM_002535 Approved uc001tuj.3 P29728 OTTHUMG00000169802 ENST00000342315.4:c.1284G>A 12.__UNKNOWN__:g.113442843G>A A8K9T1|Q6PJ33|Q86XX8 __UNKNOWN__ CCDS31906.1 OAS2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000405937.1 + ENST00000342315.4 Silent SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG EPHB4 2050 broad.mit.edu 37 7 100411306 100411306 + Missense_Mutation SNP G G A rs60537976 TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr7:100411306G>A ENST00000358173.3 - 10.0 2192 c.1724C>T c.(1723-1725)tCg>tTg p.S575L EPHB4_ENST00000360620.3_Missense_Mutation_p.S575L NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 575.0 angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) p.S575L(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47.0 Lung NSC(181;0.041)|all_lung(186;0.0581) GTGTTTGTCCGAATATTCTGC 0.493 GBM(200;2113 3072 25865 52728) 1 Substitution - Missense(1) large_intestine(1) 380.0 352.0 362.0 7 100411306.0 2203.0 4300.0 6503.0 SO:0001583 missense AY056047 CCDS5706.1 7q22 2013-02-11 2004-10-28 ENSG00000196411 ENSG00000196411 2050.0 2050.0 """EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing""" 3395.0 protein-coding gene gene with protein product 600011 """EphB4""" HTK 8188704 Standard NM_004444 NM_004444 Approved Tyro11 uc003uwn.1 P54760 OTTHUMG00000157040 ENST00000358173.3:c.1724C>T 7.__UNKNOWN__:g.100411306G>A ENSP00000350896:p.Ser575Leu B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0 __UNKNOWN__ CCDS5706.1 . . . . . . . . . . G 15.60 2.881491 0.51908 . . ENSG00000196411 ENST00000360620;ENST00000358173 T;T 0.11712 2.75;2.75 5.5 5.5 0.81552 . 0.000000 0.47852 D 0.000220 T 0.08179 0.0204 L 0.42632 1.34 0.43637 D 0.996033 P;D 0.56035 0.93;0.974 B;B 0.34489 0.095;0.184 T 0.32348 -0.9910 10 0.23891 T 0.37 . 12.586 0.56419 0.0:0.1672:0.8328:0.0 rs60537976 575;575 Q96L35;P54760 .;EPHB4_HUMAN L 575 ENSP00000353833:S575L;ENSP00000350896:S575L ENSP00000350896:S575L S - 2 0 EPHB4 100249242 1.000000 0.71417 0.880000 0.34516 0.691000 0.40173 4.102000 0.57776 2.577000 0.86979 0.655000 0.94253 TCG EPHB4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347222.1 - ENST00000358173.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr2:209113113G>A ENST00000415913.1 - 4.0 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C NM_001282387.1 NP_001269316.1 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132.0 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}. 2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777) isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102) p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887.0 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398 Mis gliobastoma Pancreas(158;264 1958 3300 35450 36047) Dom yes 2 2q33.3 3417.0 """isocitrate dehydrogenase 1 (NADP+), soluble""" O 679 Substitution - Missense(678)|Complex - compound substitution(1) haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1) 81.0 74.0 76.0 2 209113113.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS2381.1 2q34 2014-09-17 ENSG00000138413 ENSG00000138413 3417.0 3417.0 1.1.1.42 5382.0 protein-coding gene gene with protein product 147700 Standard NM_005896 Approved uc002vcu.3 O75874 OTTHUMG00000132943 ENST00000415913.1:c.394C>T 2.__UNKNOWN__:g.209113113G>A ENSP00000390265:p.Arg132Cys Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8 __UNKNOWN__ CCDS2381.1 . . . . . . . . . . G 24.6 4.550898 0.86127 . . ENSG00000138413 ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282 D;D;D;D 0.87029 -2.2;-2.2;-2.2;-2.2 5.57 5.57 0.84162 Isopropylmalate dehydrogenase-like domain (2); 0.000000 0.85682 D 0.000000 D 0.94049 0.8093 H 0.99379 4.54 0.80722 D 1 B 0.29862 0.259 B 0.31245 0.126 D 0.94048 0.7315 10 0.87932 D 0 -20.0399 19.5341 0.95242 0.0:0.0:1.0:0.0 . 132 O75874 IDHC_HUMAN C 132 ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C ENSP00000260985:R132C R - 1 0 IDH1 208821358 1.000000 0.71417 0.999000 0.59377 0.994000 0.84299 7.074000 0.76791 2.616000 0.88540 0.555000 0.69702 CGT IDH1-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000336672.1 - ENST00000415913.1 Missense_Mutation SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG GMIP 51291 broad.mit.edu 37 19 19747568 19747568 + Silent SNP G G A TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr19:19747568G>A ENST00000203556.4 - 13.0 1412 c.1275C>T c.(1273-1275)agC>agT p.S425S GMIP_ENST00000587238.1_Silent_p.S425S|GMIP_ENST00000445806.2_Silent_p.S422S NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 425.0 intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|intracellular (GO:0005622) metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100) breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24.0 CGCCACCCACGCTGTCCACAT 0.637 0 60.0 63.0 62.0 19 19747568.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF132541 CCDS12408.1, CCDS74318.1 19p13.11 2011-09-07 ENSG00000089639 51291.0 51291.0 """Rho GTPase activating proteins""" 24852.0 protein-coding gene gene with protein product 609694 12093360, 16086184 Standard NM_016573 XM_005259927 Approved ARHGAP46 uc002nnd.3 Q9P107 ENST00000203556.4:c.1275C>T 19.__UNKNOWN__:g.19747568G>A A0AVN9|B7ZLZ0 __UNKNOWN__ CCDS12408.1 GMIP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000460551.1 - ENST00000203556.4 Silent SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr2:107049681T>C ENST00000409886.3 - 16.0 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756.0 protein targeting to Golgi (GO:0000042) p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71.0 TCACTATAGTTTTCGAGTTCC 0.373 6 Substitution - Missense(6) endometrium(6) 164.0 133.0 142.0 2 107049681.0 692.0 1590.0 2282.0 SO:0001583 missense CCDS46379.1 2q12.2 2013-01-10 ENSG00000153165 ENSG00000153165 653489.0 653489.0 """Tetratricopeptide (TTC) repeat domain containing""" 32416.0 protein-coding gene gene with protein product 612706 15710750, 15815621 Standard XM_929931 NM_001144013 Approved RGP3 uc010ywi.1 A6NKT7 OTTHUMG00000153182 ENST00000409886.3:c.2266A>G 2.__UNKNOWN__:g.107049681T>C ENSP00000386588:p.Asn756Asp B8ZZM4 __UNKNOWN__ CCDS46379.1 . . . . . . . . . . . 0.003 -2.481585 0.00163 . . ENSG00000153165 ENST00000409886;ENST00000452099;ENST00000304514 T;T 0.23754 1.89;1.89 2.34 2.34 0.29019 . . . . . T 0.07638 0.0192 N 0.02011 -0.69 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.37979 -0.9682 9 0.02654 T 1 -2.2547 7.1228 0.25454 0.0:0.8499:0.0:0.1501 . 756 A6NKT7 RGPD3_HUMAN D 756;514;756 ENSP00000386588:N756D;ENSP00000303659:N756D ENSP00000303659:N756D N - 1 0 RGPD3 106416113 0.974000 0.33945 0.242000 0.24170 0.003000 0.03518 4.107000 0.57811 0.325000 0.23359 -1.206000 0.01644 AAC RGPD3-002 KNOWN not_best_in_genome_evidence|basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000329975.1 - ENST00000409886.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG TFAP2C 7022 broad.mit.edu 37 20 55206271 55206271 + Missense_Mutation SNP A A G TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr20:55206271A>G ENST00000201031.2 + 2.0 302 c.59A>G c.(58-60)gAc>gGc p.D20G TFAP2C_ENST00000544508.1_5'UTR NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 20.0 cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829) nucleus (GO:0005634) core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13.0 Colorectal(105;0.229) GATCGCCACGACGGGAGCAGC 0.662 0 42.0 52.0 49.0 20 55206271.0 2203.0 4298.0 6501.0 SO:0001583 missense CCDS13454.1 20q13.2 2008-07-17 2001-11-28 ENSG00000087510 ENSG00000087510 7022.0 7022.0 11744.0 protein-coding gene gene with protein product """estrogen receptor factor 1""" 601602 """transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)""" 8661133 Standard NM_003222 NM_003222 Approved AP2-GAMMA, ERF1, TFAP2G, hAP-2g uc002xya.3 Q92754 OTTHUMG00000032805 ENST00000201031.2:c.59A>G 20.__UNKNOWN__:g.55206271A>G ENSP00000201031:p.Asp20Gly B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2 __UNKNOWN__ CCDS13454.1 . . . . . . . . . . A 16.91 3.252080 0.59212 . . ENSG00000087510 ENST00000201031;ENST00000416606 D;D 0.81579 -1.51;-1.51 5.52 4.43 0.53597 . 0.000000 0.85682 D 0.000000 T 0.79209 0.4407 M 0.71036 2.16 0.80722 D 1 P 0.48294 0.908 B 0.41860 0.368 T 0.80190 -0.1485 10 0.87932 D 0 -11.9025 11.3453 0.49556 0.9287:0.0:0.0713:0.0 . 20 Q92754 AP2C_HUMAN G 20;8 ENSP00000201031:D20G;ENSP00000390857:D8G ENSP00000201031:D20G D + 2 0 TFAP2C 54639678 1.000000 0.71417 0.993000 0.49108 0.008000 0.06430 8.371000 0.90123 0.936000 0.37367 -0.379000 0.06801 GAC TFAP2C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079823.2 + ENST00000201031.2 Missense_Mutation SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG DCST2 127579 ucsc.edu 37 1 155002965 155002965 + Missense_Mutation SNP T T C TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr1:155002965T>C ENST00000368424.3 - 6.0 1020 c.962A>G c.(961-963)gAg>gGg p.E321G DCST2_ENST00000295536.5_Missense_Mutation_p.E321G NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 321.0 integral component of membrane (GO:0016021) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38.0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) AGCCAGGGCCTCTCGGACACG 0.642 0 64.0 53.0 57.0 1 155002965.0 2203.0 4300.0 6503.0 SO:0001583 missense AK057496 CCDS1082.2 1q22 2008-02-05 2005-08-09 ENSG00000163354 ENSG00000163354 127579.0 127579.0 26562.0 protein-coding gene gene with protein product Standard NM_144622 NM_144622 Approved FLJ32934 uc001fgm.3 Q5T1A1 OTTHUMG00000037371 ENST00000368424.3:c.962A>G 1.__UNKNOWN__:g.155002965T>C ENSP00000357409:p.Glu321Gly Q2M2R2|Q8N810|Q96M03 __UNKNOWN__ CCDS1082.2 . . . . . . . . . . T 12.17 1.856570 0.32791 . . ENSG00000163354 ENST00000368424;ENST00000295536 T;T 0.25579 1.79;1.84 5.38 5.38 0.77491 . 0.148353 0.43416 D 0.000565 T 0.09642 0.0237 L 0.34521 1.04 0.36774 D 0.88397 B 0.17038 0.02 B 0.17433 0.018 T 0.09530 -1.0670 10 0.26408 T 0.33 -23.4738 12.9001 0.58121 0.0:0.0:0.0:1.0 . 321 Q5T1A1 DCST2_HUMAN G 321 ENSP00000357409:E321G;ENSP00000295536:E321G ENSP00000295536:E321G E - 2 0 DCST2 153269589 0.858000 0.29795 0.863000 0.33907 0.288000 0.27193 1.976000 0.40579 2.045000 0.60652 0.533000 0.62120 GAG DCST2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090953.3 - ENST00000368424.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG UBASH3A 53347 ucsc.edu 37 21 43863493 43863493 + Missense_Mutation SNP G G T TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr21:43863493G>T ENST00000291535.6 + 12.0 1636 c.1589G>T c.(1588-1590)aGc>aTc p.S530I UBASH3A_ENST00000319294.6_Missense_Mutation_p.S568I|UBASH3A_ENST00000398367.1_Intron NM_001001895.2 NP_001001895.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 568.0 Phosphatase-like. negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817) cytosol (GO:0005829)|nucleus (GO:0005634) catalytic activity (GO:0003824) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28.0 TGCACGGCGAGCATGGTGCAA 0.587 0 80.0 59.0 66.0 21 43863493.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ277750 CCDS13687.1, CCDS33566.1, CCDS58791.1 21q22.3 2010-04-28 2010-04-28 ENSG00000160185 ENSG00000160185 53347.0 53347.0 12462.0 protein-coding gene gene with protein product 605736 11281453 Standard NM_001001895 NM_018961 Approved STS-2, TULA, CLIP4 uc002zbf.3 P57075 OTTHUMG00000086805 ENST00000291535.6:c.1589G>T 21.__UNKNOWN__:g.43863493G>T ENSP00000291535:p.Ser530Ile G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9 __UNKNOWN__ CCDS33566.1 . . . . . . . . . . G 10.83 1.459818 0.26248 . . ENSG00000160185 ENST00000291535;ENST00000319294 T;T 0.71103 -0.54;-0.54 3.54 3.54 0.40534 Histidine phosphatase superfamily, clade-1 (1); 0.250497 0.35615 N 0.003090 T 0.72195 0.3430 L 0.31420 0.93 0.45129 D 0.998142 D;D 0.76494 0.999;0.999 D;D 0.68192 0.926;0.956 T 0.71636 -0.4533 10 0.44086 T 0.13 -39.9368 10.9751 0.47461 0.0:0.0:1.0:0.0 . 530;568 P57075-2;P57075 .;UBS3A_HUMAN I 530;568 ENSP00000291535:S530I;ENSP00000317327:S568I ENSP00000291535:S530I S + 2 0 UBASH3A 42736562 0.656000 0.27385 0.083000 0.20561 0.003000 0.03518 2.271000 0.43364 2.285000 0.76669 0.650000 0.86243 AGC UBASH3A-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000195383.1 + ENST00000291535.6 Missense_Mutation SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG GPR56 9289 unc.edu 37 16 57685261 57685261 + Missense_Mutation SNP C C G rs144561715 byFrequency TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS;RNA-Seq none Illumina HiSeq 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr16:57685261C>G ENST00000388812.4 + 3.0 654 c.214C>G c.(214-216)Cct>Gct p.P72A GPR56_ENST00000379694.4_Intron|GPR56_ENST00000567835.1_Missense_Mutation_p.P72A|GPR56_ENST00000388813.5_Missense_Mutation_p.P72A|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000456916.1_Missense_Mutation_p.P72A|GPR56_ENST00000568908.1_Missense_Mutation_p.P72A|GPR56_ENST00000538815.1_Missense_Mutation_p.P72A|GPR56_ENST00000540164.2_Missense_Mutation_p.P72A|GPR56_ENST00000562631.1_Missense_Mutation_p.P72A|GPR56_ENST00000562558.1_Missense_Mutation_p.P72A|GPR56_ENST00000568909.1_Missense_Mutation_p.P72A|GPR56_ENST00000379696.3_Missense_Mutation_p.P72A|GPR56_ENST00000544297.1_5'UTR Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 72.0 angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573) extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930) kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 15.0 TGCCCCTTTCCCTGCAGCCCA 0.582 0 188.0 181.0 183.0 16 57685261.0 2198.0 4300.0 6498.0 SO:0001583 missense AJ011001 CCDS32460.1, CCDS32461.1, CCDS73893.1 16q13 2014-08-08 ENSG00000205336 9289.0 """-"", ""GPCR / Class B : Orphans""" 4512.0 protein-coding gene gene with protein product 604110 10049584, 10100861 Standard XM_005256237 Approved TM7LN4, TM7XN1 uc002emb.2 Q9Y653 ENST00000388812.4:c.214C>G 16.__UNKNOWN__:g.57685261C>G ENSP00000373464:p.Pro72Ala A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4 __UNKNOWN__ CCDS32460.1 . . . . . . . . . . C 6.433 0.448076 0.12223 . . ENSG00000205336 ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000379696 T;T;T;T;T;T 0.41065 1.01;1.01;1.01;1.01;1.01;1.01 5.03 3.08 0.35506 . 0.826180 0.10741 N 0.639448 T 0.32164 0.0820 L 0.47716 1.5 0.26653 N 0.972058 P;P;B 0.35745 0.518;0.465;0.335 B;B;B 0.34242 0.115;0.178;0.086 T 0.17471 -1.0368 10 0.27082 T 0.32 . 5.387 0.16224 0.0:0.6592:0.1662:0.1746 . 77;72;72 B4DR54;Q9Y653-2;Q9Y653 .;.;GPR56_HUMAN A 72 ENSP00000373465:P72A;ENSP00000373464:P72A;ENSP00000444415:P72A;ENSP00000398034:P72A;ENSP00000444911:P72A;ENSP00000369018:P72A ENSP00000369018:P72A P + 1 0 GPR56 56242762 0.008000 0.16893 0.667000 0.29798 0.002000 0.02628 0.401000 0.20948 0.718000 0.32166 -0.123000 0.14984 CCT GPR56-203 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000433436.3 + ENST00000388812.4 Missense_Mutation SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG VPS45 11311 unc.edu 37 1 150053487 150053487 + Missense_Mutation SNP A A G TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 Untested Somatic Phase_I WXS;RNA-Seq none Illumina HiSeq 5814ba13-d1f1-47d0-bfb7-0175d03fbe9e 4f151f1e-f37e-4d90-b9a2-83ec2e1700ec g.chr1:150053487A>G ENST00000369130.3 + 8.0 1297 c.751A>G c.(751-753)Aga>Gga p.R251G VPS45_ENST00000369128.5_Missense_Mutation_p.R146G|VPS45_ENST00000535106.1_Missense_Mutation_p.R182G NM_001279354.1|NM_007259.3 NP_001266283.1|NP_009190.2 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45 homolog (S. cerevisiae) 251.0 blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904) endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21.0 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TGATCTTTCCAGAGTGCCGGG 0.353 0 92.0 93.0 93.0 1 150053487.0 2203.0 4300.0 6503.0 SO:0001583 missense U35246 CCDS944.1, CCDS60244.1, CCDS72904.1 1q21.2 2008-02-05 2006-12-19 2006-12-19 ENSG00000136631 ENSG00000136631 11311.0 11311.0 14579.0 protein-coding gene gene with protein product 610035 """vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)""" VPS45B, VPS45A 8996080 Standard NM_007259 NM_007259 Approved h-vps45, H1 uc001etp.3 Q9NRW7 OTTHUMG00000012511 ENST00000369130.3:c.751A>G 1.__UNKNOWN__:g.150053487A>G ENSP00000358126:p.Arg251Gly D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6 __UNKNOWN__ CCDS944.1 . . . . . . . . . . A 8.850 0.944450 0.18356 . . ENSG00000136631 ENST00000369130;ENST00000369128;ENST00000543996;ENST00000535106;ENST00000419023 T;T;T;T 0.79454 -1.0;-1.27;-1.0;-1.0 5.37 4.23 0.50019 . 0.000000 0.85682 D 0.000000 T 0.31638 0.0803 N 0.01789 -0.72 0.58432 D 0.999999 B;B;B;B 0.09022 0.002;0.001;0.0;0.0 B;B;B;B 0.12156 0.007;0.006;0.006;0.006 T 0.32455 -0.9906 10 0.15066 T 0.55 . 10.1427 0.42744 0.6867:0.3133:0.0:0.0 . 146;251;71;251 F5H8K1;Q53FR8;A0AR27;Q9NRW7 .;.;.;VPS45_HUMAN G 251;146;126;182;182 ENSP00000358126:R251G;ENSP00000358124:R146G;ENSP00000440690:R182G;ENSP00000400143:R182G ENSP00000358124:R146G R + 1 2 VPS45 148320111 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 3.351000 0.52232 2.254000 0.74563 0.460000 0.39030 AGA VPS45-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000034964.1 + ENST00000369130.3 Missense_Mutation SNP PCPG-TCGA-W2-A7HH-Normal-SM-5EMLG TNPO2 30000 broad.mit.edu 37 19 12830080 12830080 + Missense_Mutation SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr19:12830080G>A ENST00000450764.2 - 2.0 907 c.170C>T c.(169-171)tCa>tTa p.S57L TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000356861.5_Missense_Mutation_p.S57L|TNPO2_ENST00000592287.1_Missense_Mutation_p.S57L|TNPO2_ENST00000588216.1_Missense_Mutation_p.S57L|TNPO2_ENST00000441499.1_Missense_Mutation_p.S57L|TNPO2_ENST00000425528.1_Missense_Mutation_p.S57L O14787 TNPO2_HUMAN transportin 2 57.0 Importin N-terminal. intracellular protein transport (GO:0006886) cytoplasm (GO:0005737)|nucleus (GO:0005634) nuclear localization sequence binding (GO:0008139) autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28.0 CGTACCTTCTGACTTGAGTCT 0.542 0 166.0 180.0 175.0 19 12830080.0 1984.0 4160.0 6144.0 SO:0001583 missense AF019039 CCDS45991.1, CCDS45992.1 19p13.13 2009-01-12 2009-01-12 ENSG00000105576 30000.0 30000.0 """Importins""" 19998.0 protein-coding gene gene with protein product """importin 3"", ""karyopherin beta 2b""" 603002 9298975, 12384575 Standard NM_013433 NM_013433 Approved IPO3, KPNB2B, FLJ12155, TRN2 uc002muo.3 O14787 ENST00000450764.2:c.170C>T 19.__UNKNOWN__:g.12830080G>A ENSP00000397379:p.Ser57Leu O14655|Q6IN77 __UNKNOWN__ CCDS45992.1 . . . . . . . . . . G 22.5 4.296601 0.81025 . . ENSG00000105576 ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320 T;T;T;T 0.71579 -0.58;-0.58;-0.58;-0.58 5.15 5.15 0.70609 Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (2); 0.126084 0.56097 D 0.000038 T 0.72179 0.3428 M 0.81497 2.545 0.58432 D 0.999998 P;P 0.39022 0.655;0.64 B;B 0.33960 0.142;0.173 T 0.78316 -0.2251 10 0.66056 D 0.02 -21.6946 17.7517 0.88436 0.0:0.0:1.0:0.0 . 221;57 Q4LE60;O14787 .;TNPO2_HUMAN L 221;57;57;57;57;57;57 ENSP00000407182:S57L;ENSP00000389648:S57L;ENSP00000397379:S57L;ENSP00000349321:S57L ENSP00000349321:S57L S - 2 0 TNPO2 12691080 1.000000 0.71417 0.985000 0.45067 0.995000 0.86356 8.964000 0.93389 2.564000 0.86499 0.650000 0.86243 TCA TNPO2-005 KNOWN alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000450783.1 - ENST00000450764.2 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN CCDC60 160777 broad.mit.edu 37 12 119942926 119942926 + Missense_Mutation SNP G G A rs146647643 byFrequency TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr12:119942926G>A ENST00000327554.2 + 7.0 1166 c.701G>A c.(700-702)cGg>cAg p.R234Q RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 234.0 p.R234Q(1) endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40.0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) AAACCAAGCCGGCGAGGCTCC 0.547 G 2.0 0.0009 0.002 0.0028 2184.0 0.9996 , , 0.0006 0.0011 0.8671 LOWCOV,EXOME 0.0008 SNP 1 Substitution - Missense(1) skin(1) G GLN/ARG 6,4400 9.9+/-24.2 0,6,2197 73.0 80.0 77.0 701 4.2 1.0 12 dbSNP_134 77.0 1,8599 1.2+/-3.3 0,1,4299 yes missense CCDC60 NM_178499.3 43 0,7,6496 AA,AG,GG 0.0116,0.1362,0.0538 probably-damaging 234/551 119942926.0 7,12999 2203.0 4300.0 6503.0 SO:0001583 missense BC040553 CCDS9190.1 12q24.23 2006-02-03 ENSG00000183273 ENSG00000183273 160777.0 160777.0 28610.0 protein-coding gene gene with protein product 12477932 Standard NM_178499 NM_178499 Approved MGC39827 uc001txe.3 Q8IWA6 OTTHUMG00000168943 ENST00000327554.2:c.701G>A 12.__UNKNOWN__:g.119942926G>A ENSP00000333374:p.Arg234Gln __UNKNOWN__ CCDS9190.1 2 9.157509157509158E-4 1 0.0020325203252032522 1 0.0027624309392265192 0 0.0 0 0.0 G 15.25 2.778157 0.49786 0.001362 1.16E-4 ENSG00000183273 ENST00000327554 T 0.25085 1.82 5.07 4.19 0.49359 . 0.537306 0.15293 N 0.270062 T 0.43166 0.1235 M 0.68317 2.08 0.80722 D 1 D 0.76494 0.999 P 0.61477 0.889 T 0.18085 -1.0348 9 . . . -15.2958 9.4802 0.38895 0.0977:0.0:0.9023:0.0 . 234 Q8IWA6 CCD60_HUMAN Q 234 ENSP00000333374:R234Q . R + 2 0 CCDC60 118427309 0.999000 0.42202 0.969000 0.41365 0.013000 0.08279 4.489000 0.60309 1.128000 0.42052 -0.142000 0.14014 CGG CCDC60-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401680.1 + ENST00000327554.2 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN KRTAP5-7 440050 broad.mit.edu 37 11 71238542 71238542 + Missense_Mutation SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr11:71238542G>A ENST00000398536.4 + 1.0 230 c.196G>A c.(196-198)Ggc>Agc p.G66S NM_001012503.1 NP_001012521.1 Q6L8G8 KRA57_HUMAN keratin associated protein 5-7 66.0 7 X 4 AA repeats of C-C-X-P. keratin filament (GO:0045095) breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1) 12.0 CTCCAAGGGAGGCTGTGGCTC 0.647 0 81.0 109.0 99.0 11 71238542.0 2195.0 4283.0 6478.0 SO:0001583 missense AB126076 CCDS41682.1 11q13.4 2008-02-05 ENSG00000244411 ENSG00000244411 440050.0 440050.0 """Keratin associated proteins""" 23602.0 protein-coding gene gene with protein product 15144888 Standard NM_001012503 Approved KRTAP5.7, KRTAP5-3 uc001oqq.1 Q6L8G8 OTTHUMG00000057570 ENST00000398536.4:c.196G>A 11.__UNKNOWN__:g.71238542G>A ENSP00000417330:p.Gly66Ser B2RNM3|Q701N5 __UNKNOWN__ CCDS41682.1 . . . . . . . . . . N 0.204 -1.042140 0.01997 . . ENSG00000244411 ENST00000398536 T 0.01584 4.75 2.46 2.46 0.29980 . . . . . T 0.05502 0.0145 L 0.38175 1.15 0.28530 N 0.91262 D 0.76494 0.999 D 0.79108 0.992 T 0.25537 -1.0129 9 0.72032 D 0.01 . 11.0724 0.48010 0.0:0.0:1.0:0.0 . 66 Q6L8G8 KRA57_HUMAN S 66 ENSP00000417330:G66S ENSP00000417330:G66S G + 1 0 KRTAP5-7 70916190 0.863000 0.29885 0.861000 0.33841 0.193000 0.23685 0.860000 0.27871 1.345000 0.45676 0.281000 0.19383 GGC KRTAP5-7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000127953.1 + ENST00000398536.4 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN CDYL2 124359 broad.mit.edu 37 16 80667072 80667072 + Silent SNP C C T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr16:80667072C>T ENST00000570137.2 - 3.0 833 c.678G>A c.(676-678)gcG>gcA p.A226A CDYL2_ENST00000562812.1_Silent_p.A227A|CDYL2_ENST00000566173.1_Silent_p.A227A|CDYL2_ENST00000563890.1_Silent_p.A227A NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 226.0 nucleus (GO:0005634) catalytic activity (GO:0003824) p.A226A(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21.0 AGTCCTTCTCCGCTTCCAGCT 0.488 1 Substitution - coding silent(1) lung(1) 160.0 139.0 146.0 16 80667072.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK096185 CCDS32493.1 16q23.2 2008-02-05 2003-09-12 ENSG00000166446 124359.0 124359.0 23030.0 protein-coding gene gene with protein product """chromodomain Y-like protein 2""" 12837688 Standard NM_152342 NM_152342 Approved FLJ38866 uc002ffs.3 Q8N8U2 ENST00000570137.2:c.678G>A 16.__UNKNOWN__:g.80667072C>T Q7Z5I8 __UNKNOWN__ CCDS32493.1 CDYL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000434727.2 - ENST00000570137.2 Silent SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN MRPL16 54948 broad.mit.edu 37 11 59575194 59575194 + Missense_Mutation SNP C C T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr11:59575194C>T ENST00000300151.4 - 3.0 463 c.250G>A c.(250-252)Gaa>Aaa p.E84K NM_017840.3 NP_060310.1 Q9NX20 RM16_HUMAN mitochondrial ribosomal protein L16 84.0 translation (GO:0006412) mitochondrion (GO:0005739)|ribosome (GO:0005840) rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|endometrium(1)|liver(1)|lung(8) 11.0 AAATTGCCTTCTGTAAACTCC 0.398 0 270.0 283.0 279.0 11 59575194.0 2201.0 4295.0 6496.0 SO:0001583 missense AF183428 CCDS7976.1 11q12.1 2012-09-13 ENSG00000166902 ENSG00000166902 54948.0 54948.0 """Mitochondrial ribosomal proteins / large subunits""" 14476.0 protein-coding gene gene with protein product 611829 Standard NM_017840 NM_017840 Approved FLJ20484, PNAS-111 uc001noh.2 Q9NX20 OTTHUMG00000167410 ENST00000300151.4:c.250G>A 11.__UNKNOWN__:g.59575194C>T ENSP00000300151:p.Glu84Lys Q9BYD0|Q9HB70 __UNKNOWN__ CCDS7976.1 . . . . . . . . . . C 17.45 3.393319 0.62066 . . ENSG00000166902 ENST00000300151 T 0.22539 1.95 5.93 5.93 0.95920 Ribosomal protein L10e/L16 (2); 0.301944 0.40728 N 0.001025 T 0.15565 0.0375 N 0.16066 0.365 0.42936 D 0.994332 B 0.22146 0.065 B 0.24974 0.057 T 0.06481 -1.0824 10 0.44086 T 0.13 -21.127 15.8312 0.78752 0.0:1.0:0.0:0.0 . 84 Q9NX20 RM16_HUMAN K 84 ENSP00000300151:E84K ENSP00000300151:E84K E - 1 0 MRPL16 59331770 0.955000 0.32602 1.000000 0.80357 0.988000 0.76386 0.516000 0.22817 2.803000 0.96430 0.650000 0.86243 GAA MRPL16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394521.1 - ENST00000300151.4 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN EDN1 1906 broad.mit.edu 37 6 12290895 12290895 + Silent SNP G G T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr6:12290895G>T ENST00000379375.5 + 1.0 300 c.33G>T c.(31-33)ctG>ctT p.L11L NM_001168319.1|NM_001955.4 NP_001161791.1|NP_001946.3 P05305 EDN1_HUMAN endothelin 1 11.0 artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615) cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179) endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 13.0 all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12) all_hematologic(90;0.117) TCTCTCTGCTGTTTGTGGCTT 0.418 OREG0017197 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 109.0 100.0 103.0 6 12290895.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant S56805 CCDS4522.1 6p24.1 2014-03-19 ENSG00000078401 ENSG00000078401 1906.0 1906.0 """Endogenous ligands""" 3176.0 protein-coding gene gene with protein product 131240 Standard NM_001955 NM_001168319 Approved ET1 uc003nae.4 P05305 OTTHUMG00000014266 ENST00000379375.5:c.33G>T 6.__UNKNOWN__:g.12290895G>T 678.0 Q96DA1 __UNKNOWN__ CCDS4522.1 EDN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039872.1 + ENST00000379375.5 Silent SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN HAPLN4 404037 broad.mit.edu 37 19 19371680 19371680 + Missense_Mutation SNP C C A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr19:19371680C>A ENST00000291481.7 - 3.0 489 c.426G>T c.(424-426)gaG>gaT p.E142D AC138430.4_ENST00000586064.2_RNA NM_023002.2 NP_075378.1 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 142.0 Ig-like C2-type. cell adhesion (GO:0007155) proteinaceous extracellular matrix (GO:0005578) hyaluronic acid binding (GO:0005540) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1) 16.0 Epithelial(12;0.00575) Hyaluronan(DB08818) TGACTTCGCACTCATAGCGCC 0.622 0 87.0 76.0 79.0 19 19371680.0 2203.0 4300.0 6503.0 SO:0001583 missense AB107883 CCDS12398.1 19p13.1 2013-01-11 404037.0 404037.0 """Immunoglobulin superfamily / V-set domain containing""" 31357.0 protein-coding gene gene with protein product """brain link protein 2""" 12663660 Standard NM_023002 NM_023002 Approved BRAL2, KIAA1926 uc002nmb.3 Q86UW8 ENST00000291481.7:c.426G>T 19.__UNKNOWN__:g.19371680C>A ENSP00000291481:p.Glu142Asp A5PKW5|Q96PW2 __UNKNOWN__ CCDS12398.1 . . . . . . . . . . C 23.4 4.413014 0.83449 . . ENSG00000187664 ENST00000291481 T 0.65732 -0.17 4.66 1.09 0.20402 Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.85682 D 0.000000 T 0.63920 0.2552 L 0.50333 1.59 0.36016 D 0.838381 D 0.55385 0.971 P 0.56343 0.796 T 0.69394 -0.5157 10 0.87932 D 0 -42.7454 7.601 0.28075 0.0:0.6596:0.0:0.3404 . 142 Q86UW8 HPLN4_HUMAN D 142 ENSP00000291481:E142D ENSP00000291481:E142D E - 3 2 HAPLN4 19232680 0.672000 0.27530 1.000000 0.80357 0.991000 0.79684 -0.105000 0.10907 0.533000 0.28675 0.561000 0.74099 GAG HAPLN4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000460117.2 - ENST00000291481.7 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN PLCH2 9651 broad.mit.edu 37 1 2436155 2436155 + Missense_Mutation SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr1:2436155G>A ENST00000419816.2 + 22.0 4028 c.3754G>A c.(3754-3756)Gcc>Acc p.A1252T PLCH2_ENST00000378488.3_Missense_Mutation_p.A1216T|PLCH2_ENST00000378486.3_Missense_Mutation_p.A1252T|PLCH2_ENST00000449969.1_3'UTR O75038 PLCH2_HUMAN phospholipase C, eta 2 1252.0 inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871) central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20.0 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CCCCGTGGCTGCCAAGTCCAA 0.692 0 G THR/ALA 0,4106 0,0,2053 28.0 35.0 33.0 3754 2.4 0.4 1 33.0 1,8339 0,1,4169 no missense PLCH2 NM_014638.2 58 0,1,6222 AA,AG,GG 0.012,0.0,0.0080 benign 1252/1417 2436155.0 1,12445 2053.0 4170.0 6223.0 SO:0001583 missense AB007919 CCDS59959.1 1p36.32 2013-01-10 2006-03-16 2006-03-16 ENSG00000149527 ENSG00000149527 9651.0 9651.0 3.1.4.11 """EF-hand domain containing""" 29037.0 protein-coding gene gene with protein product 612836 """phospholipase C-like 4""" PLCL4 15899900 Standard NM_014638 XM_006711054 Approved KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2 uc001aji.1 O75038 OTTHUMG00000000719 ENST00000419816.2:c.3754G>A 1.__UNKNOWN__:g.2436155G>A ENSP00000389803:p.Ala1252Thr A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6 __UNKNOWN__ . . . . . . . . . . G 13.28 2.191381 0.38707 0.0 1.2E-4 ENSG00000149527 ENST00000378486;ENST00000378488;ENST00000278878 T;T 0.26810 1.85;1.71 4.41 2.36 0.29203 . . . . . T 0.15349 0.0370 L 0.32530 0.975 0.80722 D 1 P;P 0.45126 0.851;0.689 B;B 0.37550 0.253;0.186 T 0.04017 -1.0984 9 0.56958 D 0.05 . 5.1216 0.14863 0.1892:0.1728:0.6381:0.0 . 1004;1252 B9DI82;O75038 .;PLCH2_HUMAN T 1252;1216;1004 ENSP00000367747:A1252T;ENSP00000367749:A1216T ENSP00000278878:A1004T A + 1 0 PLCH2 2426015 0.071000 0.21146 0.432000 0.26747 0.392000 0.30506 0.254000 0.18314 0.844000 0.35094 -0.339000 0.08088 GCC PLCH2-009 KNOWN non_canonical_conserved|basic|appris_principal protein_coding protein_coding OTTHUMT00000467514.1 + ENST00000419816.2 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN RAD50 10111 broad.mit.edu 37 5 131931305 131931305 + Silent SNP T T A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr5:131931305T>A ENST00000265335.6 + 13.0 2397 c.2010T>A c.(2008-2010)atT>atA p.I670I RAD50_ENST00000378823.3_Silent_p.I531I Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 670.0 Zinc-hook. {ECO:0000255|PROSITE- ProRule:PRU00471}. cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004) membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861) ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270) breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36.0 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCCAGTTCATTACTCAGCTAA 0.388 Homologous recombination 0 82.0 72.0 76.0 5 131931305.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant Z75311 CCDS34233.1 5q23-q31 2008-05-30 2001-11-28 ENSG00000113522 ENSG00000113522 10111.0 10111.0 9816.0 protein-coding gene gene with protein product 604040 """RAD50 (S. cerevisiae) homolog""" 8756642, 9705271 Standard NM_005732 NM_005732 Approved hRad50, RAD50-2 uc003kxi.3 Q92878 OTTHUMG00000059613 ENST00000265335.6:c.2010T>A 5.__UNKNOWN__:g.131931305T>A B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86 __UNKNOWN__ CCDS34233.1 RAD50-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000132566.5 + ENST00000265335.6 Silent SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN CFH 3075 broad.mit.edu 37 1 196645148 196645148 + Missense_Mutation SNP G G A rs121913058 TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr1:196645148G>A ENST00000359637.2 + 4.0 442 c.380G>A c.(379-381)cGt>cAt p.R127H CFH_ENST00000367429.4_Missense_Mutation_p.R127H|CFH_ENST00000439155.2_Missense_Mutation_p.R127H P08603 CFAH_HUMAN complement factor H 191.0 Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}. R -> L (in CFHD; with membranoproliferative glomerulonephritis). {ECO:0000269|PubMed:14978182}. complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201) NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101.0 ATTAATTACCGTGAATGTGAC 0.308 0 GRCh37 CM044589|CM087105 CFH M rs121913058 195.0 181.0 186.0 1 196645148.0 2203.0 4300.0 6503.0 SO:0001583 missense Y00716 CCDS1385.1 1q32 2014-09-17 2004-08-09 2004-08-12 ENSG00000000971 ENSG00000000971 3075.0 3075.0 """Complement system""" 4883.0 protein-coding gene gene with protein product """beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1""" 134370 """H factor 1 (complement)""" HF, HF1, HF2 2889480, 2963625 Standard NM_000186 NM_000186 Approved HUS, FHL1, ARMS1, ARMD4 uc001gtj.4 P08603 OTTHUMG00000035607 ENST00000359637.2:c.380G>A 1.__UNKNOWN__:g.196645148G>A ENSP00000352658:p.Arg127His A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86 __UNKNOWN__ . . . . . . . . . . G 16.52 3.146245 0.57044 . . ENSG00000000971 ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637 T;T;T 0.65549 -0.16;-0.16;-0.16 5.5 5.5 0.81552 Complement control module (2);Sushi/SCR/CCP (3); . . . . D 0.83505 0.5269 H 0.96805 3.885 0.35188 D 0.773088 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 0.996;1.0;0.993;0.998 D 0.86561 0.1841 9 0.07482 T 0.82 . 14.9068 0.70727 0.0:0.0:1.0:0.0 . 127;127;127;127 Q5TFM2;P08603-2;P08603;F8WDX4 .;.;CFAH_HUMAN;. H 127 ENSP00000356399:R127H;ENSP00000402656:R127H;ENSP00000352658:R127H ENSP00000352658:R127H R + 2 0 CFH 194911771 1.000000 0.71417 0.799000 0.32177 0.908000 0.53690 6.152000 0.71812 2.585000 0.87301 0.462000 0.41574 CGT CFH-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000087502.1 + ENST00000359637.2 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN ATP8B2 57198 broad.mit.edu 37 1 154309900 154309900 + Missense_Mutation SNP G G T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr1:154309900G>T ENST00000368489.3 + 12.0 1013 c.1013G>T c.(1012-1014)cGt>cTt p.R338L ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.R305L|ATP8B2_ENST00000341822.2_Missense_Mutation_p.R324L NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 324.0 ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) p.R338H(1) 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) 51.0 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GTGGGGATGCGTTTCCAGGTC 0.552 1 Substitution - Missense(1) large_intestine(1) 346.0 282.0 304.0 1 154309900.0 2203.0 4300.0 6503.0 SO:0001583 missense AB032963 CCDS1066.1, CCDS41405.1 1q21.3 2012-03-09 2012-03-09 ENSG00000143515 ENSG00000143515 57198.0 57198.0 """ATPases / P-type""" 13534.0 protein-coding gene gene with protein product 605867 """ATPase, class I, type 8B, member 2""" 10574461, 11015572 Standard NM_020452 NM_020452 Approved ATPID, KIAA1137 uc001fex.3 P98198 OTTHUMG00000035979 ENST00000368489.3:c.1013G>T 1.__UNKNOWN__:g.154309900G>T ENSP00000357475:p.Arg338Leu B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7 __UNKNOWN__ CCDS1066.1 . . . . . . . . . . G 8.269 0.812984 0.16537 . . ENSG00000143515 ENST00000368487;ENST00000368489;ENST00000341822 D;D;D 0.88664 -2.41;-2.41;-2.41 5.17 3.28 0.37604 ATPase, P-type, ATPase-associated domain (1); 0.242107 0.36200 N 0.002730 T 0.68787 0.3039 L 0.31065 0.9 0.31737 N 0.636293 B;B;B 0.06786 0.0;0.0;0.001 B;B;B 0.13407 0.005;0.004;0.009 T 0.58808 -0.7571 10 0.40728 T 0.16 . 8.2546 0.31748 0.247:0.0:0.753:0.0 . 324;338;305 P98198;P98198-3;P98198-4 AT8B2_HUMAN;.;. L 305;338;324 ENSP00000357472:R305L;ENSP00000357475:R338L;ENSP00000340448:R324L ENSP00000340448:R324L R + 2 0 ATP8B2 152576524 0.980000 0.34600 0.978000 0.43139 0.783000 0.44284 1.365000 0.34182 0.752000 0.32923 0.561000 0.74099 CGT ATP8B2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087658.2 + ENST00000368489.3 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN LSM11 134353 broad.mit.edu 37 5 157182115 157182115 + Missense_Mutation SNP T T A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr5:157182115T>A ENST00000286307.5 + 4.0 982 c.926T>A c.(925-927)gTg>gAg p.V309E NM_173491.2 NP_775762.1 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated 309.0 gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683) U7 snRNA binding (GO:0071209) breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 7.0 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGCTCCAGTGTGGGAGGTACC 0.572 0 68.0 67.0 67.0 5 157182115.0 2203.0 4300.0 6503.0 SO:0001583 missense AK095592 CCDS4342.1 5q33.3 2008-02-05 2004-04-28 ENSG00000155858 ENSG00000155858 134353.0 134353.0 30860.0 protein-coding gene gene with protein product """LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)""" 12975319 Standard NM_173491 NM_173491 Approved FLJ38273 uc003lxe.1 P83369 OTTHUMG00000130255 ENST00000286307.5:c.926T>A 5.__UNKNOWN__:g.157182115T>A ENSP00000286307:p.Val309Glu A0AVQ1|Q7Z7P0|Q8N975 __UNKNOWN__ CCDS4342.1 . . . . . . . . . . T 13.66 2.304612 0.40795 . . ENSG00000155858 ENST00000286307 . . . 5.52 1.32 0.21799 Like-Sm ribonucleoprotein (LSM)-related domain (1); 0.658399 0.15391 N 0.264808 T 0.16727 0.0402 N 0.08118 0 0.26051 N 0.98149 B 0.13145 0.007 B 0.12837 0.008 T 0.15896 -1.0421 9 0.56958 D 0.05 0.0077 4.8633 0.13594 0.0:0.5548:0.1833:0.2619 . 309 P83369 LSM11_HUMAN E 309 . ENSP00000286307:V309E V + 2 0 LSM11 157114693 0.024000 0.19004 0.790000 0.31976 0.963000 0.63663 -0.061000 0.11693 -0.054000 0.13266 0.533000 0.62120 GTG LSM11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252580.2 + ENST00000286307.5 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN PAIP1 10605 broad.mit.edu 37 5 43535001 43535001 + Missense_Mutation SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr5:43535001G>A ENST00000436644.2 - 8.0 1160 c.914C>T c.(913-915)tCa>tTa p.S305L PAIP1_ENST00000338972.4_Missense_Mutation_p.S272L|PAIP1_ENST00000306846.3_Missense_Mutation_p.S384L|PAIP1_ENST00000514514.1_Missense_Mutation_p.S305L Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 384.0 MIF4G. gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413) cytoplasm (GO:0005737)|cytosol (GO:0005829) RNA binding (GO:0003723)|translation activator activity (GO:0008494) endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24.0 Lung NSC(6;2.07e-05) TCTATATGTTGAAGTTGCATG 0.368 0 104.0 99.0 101.0 5 43535001.0 2203.0 4300.0 6503.0 SO:0001583 missense AF013758 CCDS3947.1, CCDS3948.1, CCDS47204.1 5p12 2008-02-05 ENSG00000172239 ENSG00000172239 10605.0 10605.0 16945.0 protein-coding gene gene with protein product 605184 9548260, 11230166 Standard NM_006451 NM_006451 Approved uc003job.3 Q9H074 OTTHUMG00000096960 ENST00000436644.2:c.914C>T 5.__UNKNOWN__:g.43535001G>A ENSP00000387729:p.Ser305Leu A6NKV8|O60455|Q96B61|Q9BS63 __UNKNOWN__ CCDS47204.1 . . . . . . . . . . G 16.95 3.263771 0.59431 . . ENSG00000172239 ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514 T;T;T;T 0.34275 1.37;1.39;1.4;1.41 5.61 4.73 0.59995 . 0.203569 0.42294 D 0.000739 T 0.32194 0.0821 L 0.43152 1.355 0.49915 D 0.99983 B;B;B 0.22003 0.047;0.063;0.058 B;B;B 0.25291 0.016;0.039;0.059 T 0.08207 -1.0733 10 0.41790 T 0.15 -7.6025 12.9222 0.58239 0.0782:0.0:0.9218:0.0 . 305;384;305 D6REB4;Q9H074;Q9H074-2 .;PAIP1_HUMAN;. L 384;305;272;305 ENSP00000302768:S384L;ENSP00000387729:S305L;ENSP00000339622:S272L;ENSP00000425084:S305L ENSP00000302768:S384L S - 2 0 PAIP1 43570758 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.084000 0.76866 2.646000 0.89796 0.585000 0.79938 TCA PAIP1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000367948.1 - ENST00000436644.2 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN CHST15 51363 broad.mit.edu 37 10 125769796 125769796 + Missense_Mutation SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr10:125769796G>A ENST00000346248.5 - 8.0 2197 c.1555C>T c.(1555-1557)Cgt>Tgt p.R519C CHST15_ENST00000435907.1_Missense_Mutation_p.R519C NM_015892.4 NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 519.0 carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) 3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659) endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26.0 TCCTCGGGACGCCGTGCATTG 0.587 0 36.0 39.0 38.0 10 125769796.0 2203.0 4300.0 6503.0 SO:0001583 missense AB011170 CCDS7638.1 10q26 2009-07-09 ENSG00000182022 ENSG00000182022 51363.0 51363.0 2.8.2.33 """Sulfotransferases, membrane-bound""" 18137.0 protein-coding gene gene with protein product """B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase""" 608277 9628581, 9754571, 11572857 Standard NM_015892 NM_014863 Approved GALNAC4S-6ST, BRAG, KIAA0598 uc001lhm.4 Q7LFX5 OTTHUMG00000019208 ENST00000346248.5:c.1555C>T 10.__UNKNOWN__:g.125769796G>A ENSP00000333947:p.Arg519Cys O60338|O60474|Q86VM4 __UNKNOWN__ CCDS7638.1 . . . . . . . . . . G 18.82 3.704970 0.68615 . . ENSG00000182022 ENST00000346248;ENST00000435907 T;T 0.56611 0.45;0.45 5.38 4.46 0.54185 . 0.000000 0.85682 D 0.000000 T 0.68988 0.3061 M 0.61703 1.905 0.80722 D 1 D 0.89917 1.0 D 0.80764 0.994 T 0.72629 -0.4235 10 0.87932 D 0 -20.7884 14.2633 0.66099 0.0:0.0:0.6484:0.3516 . 519 Q7LFX5 CHSTF_HUMAN C 519 ENSP00000333947:R519C;ENSP00000402394:R519C ENSP00000333947:R519C R - 1 0 CHST15 125759786 1.000000 0.71417 0.956000 0.39512 0.931000 0.56810 1.347000 0.33975 1.240000 0.43803 0.558000 0.71614 CGT CHST15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050856.1 - ENST00000346248.5 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN MTUS2 23281 broad.mit.edu 37 13 29855976 29855976 + Missense_Mutation SNP C C T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr13:29855976C>T ENST00000431530.3 + 4.0 2868 c.2810C>T c.(2809-2811)gCg>gTg p.A937V NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 927.0 Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1. cytoplasm (GO:0005737)|microtubule (GO:0005874) microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20.0 TTACTTCCAGCGCCAAAATCC 0.557 0 54.0 55.0 55.0 13 29855976.0 1858.0 4104.0 5962.0 SO:0001583 missense AB018317 CCDS41874.1, CCDS45022.1 13q12.3 2013-01-17 2009-10-20 2009-10-20 ENSG00000132938 ENSG00000132938 23281.0 23281.0 20595.0 protein-coding gene gene with protein product """+TIP of 150 kDa"", ""cardiac zipper protein""" """KIAA0774""" KIAA0774 19543227 Standard XM_166270 NM_001033602 Approved TIP150, CAZIP, ICIS uc001usl.4 Q5JR59 OTTHUMG00000016657 ENST00000431530.3:c.2810C>T 13.__UNKNOWN__:g.29855976C>T ENSP00000392057:p.Ala937Val A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2 __UNKNOWN__ CCDS45022.1 . . . . . . . . . . C 22.7 4.325924 0.81580 . . ENSG00000132938 ENST00000431530 T 0.16597 2.33 4.72 4.72 0.59763 . 0.087739 0.45867 D 0.000334 T 0.36496 0.0969 L 0.50333 1.59 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.01909 -1.1249 9 . . . . 17.2062 0.86918 0.0:1.0:0.0:0.0 . 927 Q5JR59 MTUS2_HUMAN V 937 ENSP00000392057:A937V . A + 2 0 MTUS2 28753976 0.995000 0.38212 0.456000 0.27044 0.986000 0.74619 4.572000 0.60886 2.610000 0.88304 0.655000 0.94253 GCG MTUS2-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000044336.3 + ENST00000431530.3 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN GPR126 0 broad.mit.edu 37 6 142764556 142764556 + Silent SNP C C T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr6:142764556C>T ENST00000367609.3 + 25.0 4058 c.3657C>T c.(3655-3657)gtC>gtT p.V1219V GPR126_ENST00000230173.6_3'UTR|GPR126_ENST00000296932.8_3'UTR|GPR126_ENST00000367608.2_Silent_p.V1191V NM_198569.2 NP_940971 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 0.0 G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36.0 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TCCATCAGGTCATTGATAAGG 0.403 0 184.0 174.0 177.0 6 142764556.0 1939.0 4154.0 6093.0 SO:0001819 synonymous_variant AK027843 CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1 6q23.1-q24.3 2014-08-08 ENSG00000112414 ENSG00000112414 57211.0 """-"", ""GPCR / Class B : Orphans""" 13841.0 protein-coding gene gene with protein product 612243 12565841 Standard NM_001032395 Approved FLJ14937 uc010khe.3 Q86SQ4 OTTHUMG00000015709 ENST00000367609.3:c.3657C>T 6.__UNKNOWN__:g.142764556C>T Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0 __UNKNOWN__ CCDS47489.1 GPR126-009 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000396706.1 + ENST00000367609.3 Silent SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN PCID2 55795 broad.mit.edu 37 13 113834493 113834493 + Missense_Mutation SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr13:113834493G>A ENST00000337344.4 - 11.0 915 c.839C>T c.(838-840)gCg>gTg p.A280V PCID2_ENST00000375459.1_Missense_Mutation_p.A278V|PCID2_ENST00000375457.2_Missense_Mutation_p.A278V|PCID2_ENST00000246505.5_Missense_Mutation_p.A334V|PCID2_ENST00000375477.1_Missense_Mutation_p.A280V|PCID2_ENST00000375479.2_Missense_Mutation_p.A280V|PCID2_ENST00000493650.1_5'UTR NM_001127202.2 NP_001120674.1 Q5JVF3 PCID2_HUMAN PCI domain containing 2 280.0 PCI. negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536) p.A334V(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10) 20.0 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) GGTTACTTCCGCAAACTGCAT 0.433 1 Substitution - Missense(1) large_intestine(1) 136.0 130.0 132.0 13 113834493.0 2203.0 4300.0 6503.0 SO:0001583 missense AK002167 CCDS9532.2, CCDS58301.1, CCDS58302.1 13q34 2006-03-31 ENSG00000126226 ENSG00000126226 55795.0 55795.0 25653.0 protein-coding gene gene with protein product 613713 12477932 Standard NM_018386 NM_001127203 Approved FLJ11305 uc031qnm.1 Q5JVF3 OTTHUMG00000017385 ENST00000337344.4:c.839C>T 13.__UNKNOWN__:g.113834493G>A ENSP00000337405:p.Ala280Val A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3 __UNKNOWN__ CCDS9532.2 . . . . . . . . . . G 13.35 2.210880 0.39102 . . ENSG00000126226 ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317 T;T;T;T;T;T;T 0.29397 1.57;1.57;1.57;1.57;1.57;1.57;1.57 5.76 5.76 0.90799 PCI/PINT associated module (1);Proteasome component (PCI) domain (1); 0.252743 0.39083 N 0.001474 T 0.21674 0.0522 L 0.33485 1.01 0.80722 D 1 P;B 0.39131 0.661;0.092 B;B 0.25759 0.063;0.044 T 0.05419 -1.0886 10 0.15952 T 0.53 -4.5929 19.9732 0.97292 0.0:0.0:1.0:0.0 . 334;280 Q5JVF3-4;Q5JVF3 .;PCID2_HUMAN V 280;280;280;334;278;278;257;280;257 ENSP00000337405:A280V;ENSP00000364628:A280V;ENSP00000364626:A280V;ENSP00000246505:A334V;ENSP00000364608:A278V;ENSP00000364606:A278V;ENSP00000327335:A257V ENSP00000246505:A334V A - 2 0 PCID2 112882494 1.000000 0.71417 0.911000 0.35937 0.146000 0.21551 9.375000 0.97178 2.725000 0.93324 0.655000 0.94253 GCG PCID2-002 KNOWN alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045897.1 - ENST00000337344.4 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN TRIM51HP 0 broad.mit.edu 37 11 55065705 55065705 + RNA SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr11:55065705G>A ENST00000526016.1 - 0.0 3 NR_038174.2 tripartite motif-containing 51H, pseudogene GATGGGACAGGTGAGTTCCCT 0.483 0 11q11 2012-11-02 ENSG00000166007 ENSG00000166007 440041.0 440041.0 """Triparite motif-containing / Pseudogenes""" 43977.0 pseudogene pseudogene Standard NR_038174 Approved uc021qjb.1 OTTHUMG00000166775 ENST00000526016.1: 11.__UNKNOWN__:g.55065705G>A __UNKNOWN__ TRIM51HP-002 PUTATIVE basic|exp_conf processed_transcript pseudogene OTTHUMT00000391438.1 - ENST00000526016.1 RNA SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN NCDN 23154 broad.mit.edu 37 1 36030915 36030915 + Missense_Mutation SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr1:36030915G>A ENST00000373243.2 + 7.0 2224 c.1841G>A c.(1840-1842)gGc>gAc p.G614D NCDN_ENST00000356090.4_Missense_Mutation_p.G614D|NCDN_ENST00000373253.3_Missense_Mutation_p.G597D NM_014284.2 NP_055099.1 Q9UBB6 NCDN_HUMAN neurochondrin 614.0 bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168) cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16.0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GCCACCCCGGGCTCAGACCAG 0.637 0 90.0 93.0 92.0 1 36030915.0 2203.0 4300.0 6503.0 SO:0001583 missense AB011179 CCDS392.1, CCDS30672.1 1p34.3 2008-02-05 ENSG00000020129 ENSG00000020129 23154.0 23154.0 17597.0 protein-coding gene gene with protein product 608458 15007648 Standard NM_014284 NM_014284 Approved NCDN-1, NCDN-2 uc001bza.3 Q9UBB6 OTTHUMG00000059204 ENST00000373243.2:c.1841G>A 1.__UNKNOWN__:g.36030915G>A ENSP00000362340:p.Gly614Asp D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9 __UNKNOWN__ CCDS392.1 . . . . . . . . . . G 11.56 1.675319 0.29783 . . ENSG00000020129 ENST00000373253;ENST00000356090;ENST00000373243;ENST00000397922 . . . 5.1 5.1 0.69264 . 0.057376 0.64402 D 0.000001 T 0.25419 0.0618 N 0.03115 -0.41 0.47778 D 0.999511 B 0.18610 0.029 B 0.18561 0.022 T 0.17471 -1.0368 9 0.07482 T 0.82 . 11.0573 0.47927 0.0849:0.0:0.9151:0.0 . 614 Q9UBB6 NCDN_HUMAN D 597;614;614;39 . ENSP00000348394:G614D G + 2 0 NCDN 35803502 0.979000 0.34478 0.999000 0.59377 0.938000 0.57974 2.573000 0.46007 2.387000 0.81309 0.563000 0.77884 GGC NCDN-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000131298.1 + ENST00000373243.2 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN ZNF799 90576 broad.mit.edu 37 19 12501827 12501827 + Missense_Mutation SNP G G T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr19:12501827G>T ENST00000430385.3 - 4.0 1585 c.1385C>A c.(1384-1386)tCc>tAc p.S462Y ZNF799_ENST00000419318.1_Missense_Mutation_p.S430Y|CTD-3105H18.14_ENST00000435033.1_Intron NM_001080821.2 NP_001074290.1 Q96GE5 ZN799_HUMAN zinc finger protein 799 462.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19.0 ATTTTGAAAGGAATAGAAATC 0.388 0 70.0 75.0 73.0 19 12501827.0 2201.0 4299.0 6500.0 SO:0001583 missense BC009517 CCDS45989.1 19p13.2 2013-01-08 ENSG00000196466 ENSG00000196466 90576.0 90576.0 """Zinc fingers, C2H2-type"", ""-""" 28071.0 protein-coding gene gene with protein product """zinc finger protein 842""" ZNF842 Standard NM_001080821 NM_001080821 Approved HIT-40, MGC71805 uc002mts.4 Q96GE5 OTTHUMG00000156408 ENST00000430385.3:c.1385C>A 19.__UNKNOWN__:g.12501827G>T ENSP00000411084:p.Ser462Tyr __UNKNOWN__ CCDS45989.1 . . . . . . . . . . G 7.868 0.727500 0.15439 . . ENSG00000196466 ENST00000419318;ENST00000430385 T;T 0.16073 2.37;2.37 1.31 -2.61 0.06171 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.20536 0.0494 L 0.41236 1.265 0.09310 N 1 D 0.76494 0.999 D 0.73708 0.981 T 0.11251 -1.0595 9 0.06891 T 0.86 . 5.3321 0.15938 0.0:0.381:0.4174:0.2016 . 462 Q96GE5 ZN799_HUMAN Y 430;462 ENSP00000415278:S430Y;ENSP00000411084:S462Y ENSP00000415278:S430Y S - 2 0 ZNF799 12362827 0.000000 0.05858 0.000000 0.03702 0.021000 0.10359 -5.448000 0.00121 -1.071000 0.03145 0.430000 0.28490 TCC ZNF799-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000344099.2 - ENST00000430385.3 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN MAGEA12 4111 broad.mit.edu 37 X 151900045 151900045 + Silent SNP C C T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chrX:151900045C>T ENST00000357916.4 - 2.0 911 c.756G>A c.(754-756)caG>caA p.Q252Q MAGEA12_ENST00000393900.3_Silent_p.Q252Q|MAGEA12_ENST00000393869.3_Silent_p.Q252Q|CSAG4_ENST00000361201.4_RNA NM_005367.5 NP_005358.2 P43365 MAGAC_HUMAN melanoma antigen family A, 12 252.0 MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28.0 Acute lymphoblastic leukemia(192;6.56e-05) GGTAGTTTTCCTGCACCAAAT 0.557 0 148.0 144.0 145.0 X 151900045.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS76048.1 Xq28 2009-03-13 ENSG00000213401 ENSG00000213401 4111.0 4111.0 6799.0 protein-coding gene gene with protein product """cancer/testis antigen family 1, member 12""" 300177 MAGE12 8575766 Standard NM_005367 NM_001166386 Approved CT1.12 uc004fgc.3 P43365 OTTHUMG00000022650 ENST00000357916.4:c.756G>A X.__UNKNOWN__:g.151900045C>T Q9NSD3 __UNKNOWN__ CCDS14710.1 MAGEA12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058764.1 - ENST00000357916.4 Silent SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN ARAP3 64411 broad.mit.edu 37 5 141053009 141053009 + Nonsense_Mutation SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr5:141053009G>A ENST00000508305.1 - 6.0 946 c.697C>T c.(697-699)Cag>Tag p.Q233* ARAP3_ENST00000239440.4_Nonsense_Mutation_p.Q311* Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 311.0 cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726) ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270) 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) 53.0 CCATTGAACTGCACAAAGCGT 0.547 0 105.0 101.0 102.0 5 141053009.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AJ310567 CCDS4266.1 5q31.3 2013-01-11 2008-09-22 2008-09-22 ENSG00000120318 ENSG00000120318 64411.0 64411.0 """ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing""" 24097.0 protein-coding gene gene with protein product 606647 """centaurin, delta 3""" CENTD3 11804589, 12015138 Standard NM_022481 XM_005268497 Approved FLJ21065, DRAG1 uc003llm.3 Q8WWN8 OTTHUMG00000129610 ENST00000508305.1:c.697C>T 5.__UNKNOWN__:g.141053009G>A ENSP00000421826:p.Gln233* B4DIT1|D3DQE3 __UNKNOWN__ . . . . . . . . . . G 39 7.359481 0.98235 . . ENSG00000120318 ENST00000522690;ENST00000508305;ENST00000239440;ENST00000504448 . . . 5.21 4.25 0.50352 . 0.377447 0.25636 N 0.029302 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 . 10.1293 0.42669 0.0:0.0:0.6064:0.3936 . . . . X 230;233;311;311 . ENSP00000239440:Q311X Q - 1 0 ARAP3 141033193 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 4.755000 0.62198 2.417000 0.82017 0.557000 0.71058 CAG ARAP3-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000373653.2 - ENST00000508305.1 Nonsense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN CSH2 1443 broad.mit.edu 37 17 61950686 61950686 + Silent SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr17:61950686G>A ENST00000392886.2 - 2.0 175 c.24C>T c.(22-24)tcC>tcT p.S8S CSH2_ENST00000345366.7_Silent_p.S8S|CSH2_ENST00000336844.5_Silent_p.S8S|CSH2_ENST00000560142.1_Silent_p.S8S NM_020991.3 NP_066271.1 P0DML3 CSH2_HUMAN chorionic somatomammotropin hormone 2 8.0 extracellular region (GO:0005576) metal ion binding (GO:0046872) endometrium(2)|large_intestine(1)|lung(3) 6.0 CCAGGAGCAGGGACGTCCGGG 0.607 0 16.0 17.0 17.0 17 61950686.0 2200.0 4293.0 6493.0 SO:0001819 synonymous_variant V00573 CCDS11646.1, CCDS42368.1, CCDS42369.1 17q22-q24 2012-10-02 1443.0 1443.0 2441.0 protein-coding gene gene with protein product """placental lactogen"", ""chorionic somatomammotropin B""" 118820 593368, 6208192 Standard NM_020991 NM_020991 Approved hCS-B, CSB, CS-2 uc002jch.3 P0DML3 ENST00000392886.2:c.24C>T 17.__UNKNOWN__:g.61950686G>A P01243|Q0VDB1|Q14407 __UNKNOWN__ CCDS42369.1 CSH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000417657.1 - ENST00000392886.2 Silent SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN TXNRD1 7296 broad.mit.edu 37 12 104713352 104713352 + Silent SNP C C T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr12:104713352C>T ENST00000529546.1 + 6.0 639 c.414C>T c.(412-414)taC>taT p.Y138Y TXNRD1_ENST00000526950.1_Silent_p.Y245Y|TXNRD1_ENST00000427956.1_Silent_p.Y291Y|TXNRD1_ENST00000524698.1_Silent_p.Y176Y|TXNRD1_ENST00000525566.1_Silent_p.Y326Y|TXNRD1_ENST00000526691.1_Silent_p.Y228Y|TXNRD1_ENST00000526390.1_Silent_p.Y220Y|TXNRD1_ENST00000397736.2_Silent_p.Y220Y|TXNRD1_ENST00000378070.4_Silent_p.Y275Y|TXNRD1_ENST00000388854.3_Silent_p.Y228Y|TXNRD1_ENST00000542918.1_Silent_p.Y226Y|TXNRD1_ENST00000503506.2_Silent_p.Y176Y|TXNRD1_ENST00000354940.6_Silent_p.Y176Y|TXNRD1_ENST00000540716.1_Silent_p.Y138Y|TXNRD1_ENST00000429002.2_Silent_p.Y326Y Q16881 TRXR1_HUMAN thioredoxin reductase 1 326.0 Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}. cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634) electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791) cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16.0 Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147) ACAAAGAATACTGCATCAGCA 0.398 Ovarian(139;555 1836 9186 9946 10884) 0 28.0 27.0 27.0 12 104713352.0 1836.0 4085.0 5921.0 SO:0001819 synonymous_variant CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1 12q23-q24.1 2012-03-01 7296.0 7296.0 12437.0 protein-coding gene gene with protein product 601112 7589432 Standard NM_003330 NM_001093771 Approved TXNR, GRIM-12, Trxr1 uc021rcx.2 Q16881 ENST00000529546.1:c.414C>T 12.__UNKNOWN__:g.104713352C>T B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79 __UNKNOWN__ CCDS58274.1 TXNRD1-004 PUTATIVE basic|exp_conf|CCDS|seleno protein_coding protein_coding OTTHUMT00000389969.1 + ENST00000529546.1 Silent SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN HS3ST1 9957 broad.mit.edu 37 4 11401091 11401091 + Missense_Mutation SNP C C T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr4:11401091C>T ENST00000002596.5 - 2.0 1713 c.539G>A c.(538-540)cGc>cAc p.R180H NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 180.0 carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281) Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15.0 CCTGCCATCGCGCACCAGGAA 0.592 0 C HIS/ARG 1,4405 2.1+/-5.4 0,1,2202 83.0 76.0 79.0 539 4.5 1.0 4 79.0 1,8599 1.2+/-3.3 0,1,4299 no missense HS3ST1 NM_005114.2 29 0,2,6501 TT,TC,CC 0.0116,0.0227,0.0154 benign 180/308 11401091.0 2,13004 2203.0 4300.0 6503.0 SO:0001583 missense AF019386 CCDS3408.1 4p16 2008-02-05 ENSG00000002587 ENSG00000002587 9957.0 9957.0 2.8.2.23 """Sulfotransferases, membrane-bound""" 5194.0 protein-coding gene gene with protein product 603244 9988767 Standard NM_005114 NM_005114 Approved 3OST1 uc003gmq.3 O14792 OTTHUMG00000090547 ENST00000002596.5:c.539G>A 4.__UNKNOWN__:g.11401091C>T ENSP00000002596:p.Arg180His B3KUA6|Q6PEY8 __UNKNOWN__ CCDS3408.1 . . . . . . . . . . C 14.95 2.688388 0.48097 2.27E-4 1.16E-4 ENSG00000002587 ENST00000002596 D 0.82167 -1.58 5.61 4.54 0.55810 Sulfotransferase domain (1); 0.304563 0.25645 N 0.029247 T 0.72930 0.3522 L 0.46819 1.47 0.39509 D 0.968339 B 0.27264 0.173 B 0.17433 0.018 T 0.71731 -0.4504 10 0.51188 T 0.08 . 4.6962 0.12804 0.0:0.7316:0.0:0.2684 . 180 O14792 HS3S1_HUMAN H 180 ENSP00000002596:R180H ENSP00000002596:R180H R - 2 0 HS3ST1 11010189 1.000000 0.71417 0.976000 0.42696 0.917000 0.54804 4.173000 0.58249 2.793000 0.96121 0.655000 0.94253 CGC HS3ST1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207073.3 - ENST00000002596.5 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN OR5H6 79295 broad.mit.edu 37 3 97983244 97983244 + Missense_Mutation SNP G G C TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr3:97983244G>C ENST00000383696.2 + 1.0 157 c.116G>C c.(115-117)tGt>tCt p.C39S RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 39.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.C39Y(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34.0 CAACCTGACTGTAAAATACCG 0.413 1 Substitution - Missense(1) large_intestine(1) 190.0 195.0 193.0 3 97983244.0 2203.0 4299.0 6502.0 SO:0001583 missense BK004374 CCDS33800.1 3q12.1 2013-10-10 2013-10-10 ENSG00000230301 ENSG00000230301 79295.0 79295.0 """GPCR / Class A : Olfactory receptors""" 14767.0 protein-coding gene gene with protein product """olfactory receptor, family 5, subfamily H, member 6""" Standard NM_001005479 Approved uc003dsi.1 Q8NGV6 OTTHUMG00000160078 ENST00000383696.2:c.116G>C 3.__UNKNOWN__:g.97983244G>C ENSP00000373196:p.Cys39Ser Q6IF88 __UNKNOWN__ CCDS33800.1 . . . . . . . . . . - 6.812 0.518864 0.13005 . . ENSG00000230301 ENST00000383696 T 0.01323 5.01 2.19 -0.213 0.13165 . 0.622484 0.13047 N 0.418024 T 0.00580 0.0019 N 0.00483 -1.445 0.09310 N 1 B 0.16802 0.019 B 0.19946 0.027 T 0.47736 -0.9094 10 0.87932 D 0 . 7.0675 0.25159 0.0:0.0:0.359:0.6409 . 39 Q8NGV6 OR5H6_HUMAN S 39 ENSP00000373196:C39S ENSP00000373196:C39S C + 2 0 OR5H6 99465934 0.000000 0.05858 0.002000 0.10522 0.003000 0.03518 0.634000 0.24614 0.233000 0.21120 0.194000 0.17425 TGT OR5H6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359111.2 + ENST00000383696.2 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN SHB 6461 broad.mit.edu 37 9 37974712 37974712 + Missense_Mutation SNP G G A TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr9:37974712G>A ENST00000377707.3 - 3.0 1526 c.961C>T c.(961-963)Cgg>Tgg p.R321W RP11-613M10.9_ENST00000540557.1_3'UTR NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 321.0 Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3. angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) SH3/SH2 adaptor activity (GO:0005070) central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11.0 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) TTGCTCTCCCGCAGTCGGGGG 0.597 0 73.0 82.0 79.0 9 37974712.0 2057.0 4184.0 6241.0 SO:0001583 missense CCDS43806.1 9p13.2 2013-09-23 2005-05-24 ENSG00000107338 ENSG00000107338 6461.0 6461.0 """SH2 domain containing""" 10838.0 protein-coding gene gene with protein product 600314 """SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B""" 7713524 Standard NM_003028 Approved uc004aax.3 Q15464 OTTHUMG00000019936 ENST00000377707.3:c.961C>T 9.__UNKNOWN__:g.37974712G>A ENSP00000366936:p.Arg321Trp B9EGM0|D3DRQ5|Q504U5|Q5VUM8 __UNKNOWN__ CCDS43806.1 . . . . . . . . . . G 18.93 3.726818 0.69074 . . ENSG00000107338 ENST00000377707 T 0.31510 1.49 5.55 3.64 0.41730 . 0.000000 0.52532 D 0.000076 T 0.49966 0.1588 L 0.59436 1.845 0.80722 D 1 D 0.89917 1.0 D 0.77557 0.99 T 0.50145 -0.8862 10 0.87932 D 0 -17.2451 12.8611 0.57913 0.0:0.0:0.7393:0.2607 . 321 Q15464 SHB_HUMAN W 321 ENSP00000366936:R321W ENSP00000366936:R321W R - 1 2 SHB 37964712 1.000000 0.71417 0.967000 0.41034 0.993000 0.82548 5.003000 0.63959 0.648000 0.30732 0.563000 0.77884 CGG SHB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052490.1 - ENST00000377707.3 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN GP2 2813 broad.mit.edu 37 16 20331047 20331047 + Missense_Mutation SNP A A G TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr16:20331047A>G ENST00000381362.4 - 7.0 987 c.911T>C c.(910-912)gTc>gCc p.V304A GP2_ENST00000381360.5_Missense_Mutation_p.V157A|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Missense_Mutation_p.V154A|GP2_ENST00000302555.5_Missense_Mutation_p.V301A NM_001007240.1|NM_001502.2 NP_001007241.2|NP_001493.2 P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 304.0 ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}. antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412) anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062) antigen binding (GO:0003823) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48.0 GAAATCATTGACCAAGGAGAG 0.423 0 449.0 418.0 429.0 16 20331047.0 2203.0 4300.0 6503.0 SO:0001583 missense U36221 CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1 16p12.3 2008-02-05 ENSG00000169347 ENSG00000169347 2813.0 2813.0 4441.0 protein-coding gene gene with protein product 602977 9605860 Standard NM_016295 XM_005255259 Approved uc002dgw.3 P55259 OTTHUMG00000131489 ENST00000381362.4:c.911T>C 16.__UNKNOWN__:g.20331047A>G ENSP00000370767:p.Val304Ala A6NFM9|A6NJA8|Q13338|Q9UIF1 __UNKNOWN__ CCDS42128.1 . . . . . . . . . . A 1.176 -0.639563 0.03557 . . ENSG00000169347 ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520 T;T;T;T 0.81163 -1.46;-1.46;-1.46;-1.46 5.23 -0.144 0.13440 Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3); . . . . T 0.53948 0.1828 N 0.03194 -0.395 0.24878 N 0.992248 B;B;B;B 0.16166 0.001;0.016;0.001;0.001 B;B;B;B 0.23716 0.005;0.048;0.003;0.004 T 0.44620 -0.9316 9 0.02654 T 1 -6.6727 9.2908 0.37786 0.529:0.0:0.471:0.0 . 154;282;301;304 P55259-4;B7Z1G2;P55259-3;P55259 .;.;.;GP2_HUMAN A 301;304;157;154;282 ENSP00000304044:V301A;ENSP00000370767:V304A;ENSP00000370765:V157A;ENSP00000343861:V154A ENSP00000304044:V301A V - 2 0 GP2 20238548 0.017000 0.18338 0.922000 0.36590 0.670000 0.39368 -0.346000 0.07760 0.049000 0.15920 0.533000 0.62120 GTC GP2-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000436920.1 - ENST00000381362.4 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN SYT5 6861 broad.mit.edu 37 19 55689729 55689729 + Frame_Shift_Del DEL G G - TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr19:55689729delG ENST00000354308.3 - 3.0 456 c.87delC c.(85-87)cccfs p.P29fs SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Frame_Shift_Del_p.P29fs NM_003180.2 NP_003171.2 O00445 SYT5_HUMAN synaptotagmin V 29.0 calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021) calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215) kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18.0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CCAGGGCCCAGGGGGGCACTG 0.602 0 19.0 20.0 20.0 19 55689729.0 2203.0 4299.0 6502.0 SO:0001589 frameshift_variant X96783 CCDS12919.1, CCDS74455.1 19q13.42 2014-07-02 ENSG00000129990 ENSG00000129990 6861.0 6861.0 """Synaptotagmins""" 11513.0 protein-coding gene gene with protein product """synaptotagmin 5""" 600782 9177789 Standard NM_003180 XM_006723338 Approved uc002qjn.1 O00445 OTTHUMG00000180669 ENST00000354308.3:c.87delC 19.__UNKNOWN__:g.55689729delG ENSP00000346265:p.Pro29fs B3KWJ8|B7Z300|Q86X72 __UNKNOWN__ CCDS12919.1 SYT5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452501.1 - ENST00000354308.3 Frame_Shift_Del DEL PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN ITPRIP 85450 bcgsc.ca 37 10 106075037 106075037 + Missense_Mutation SNP C C T TCGA-W2-A7UY-01A-11D-A35I-08 TCGA-W2-A7UY-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 20747776-f960-4a9a-ae63-4de8cbff51a2 f88e9bd8-9f29-4144-88d5-ddfa5e10231b g.chr10:106075037C>T ENST00000337478.1 - 2.0 944 c.773G>A c.(772-774)gGc>gAc p.G258D ITPRIP_ENST00000278071.2_Missense_Mutation_p.G258D|ITPRIP_ENST00000358187.2_Missense_Mutation_p.G258D NM_001272013.1 NP_001258942.1 Q8IWB1 IPRI_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein 258.0 membrane (GO:0016020)|plasma membrane (GO:0005886) breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20.0 CTTGGTCTTGCCGCAGATGCA 0.642 0 48.0 49.0 48.0 10 106075037.0 2203.0 4300.0 6503.0 SO:0001583 missense AB051541 CCDS7557.1 10q25.1 2011-04-28 2011-04-28 2008-08-11 ENSG00000148841 ENSG00000148841 85450.0 85450.0 29370.0 protein-coding gene gene with protein product """KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein""" KIAA1754 11214970, 16990268 Standard NM_033397 NM_001272012 Approved bA127L20.2, DANGER uc001kye.4 Q8IWB1 OTTHUMG00000019003 ENST00000337478.1:c.773G>A 10.__UNKNOWN__:g.106075037C>T ENSP00000337178:p.Gly258Asp D3DRA5|Q5JU17|Q96MS8|Q9C0A9 __UNKNOWN__ CCDS7557.1 . . . . . . . . . . C 6.916 0.538657 0.13250 . . ENSG00000148841 ENST00000337478;ENST00000278071;ENST00000358187 T;T;T 0.22743 1.94;1.94;1.94 5.25 1.3 0.21679 . 0.273316 0.41396 N 0.000894 T 0.15565 0.0375 L 0.46885 1.475 0.38217 D 0.940637 B 0.16603 0.018 B 0.12156 0.007 T 0.15607 -1.0431 10 0.17832 T 0.49 -14.2656 8.789 0.34839 0.0:0.4851:0.0:0.5149 . 258 Q8IWB1 IPRI_HUMAN D 258 ENSP00000337178:G258D;ENSP00000278071:G258D;ENSP00000350915:G258D ENSP00000278071:G258D G - 2 0 ITPRIP 106065027 1.000000 0.71417 0.981000 0.43875 0.591000 0.36615 0.805000 0.27112 0.040000 0.15660 0.467000 0.42956 GGC ITPRIP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050204.1 - ENST00000337478.1 Missense_Mutation SNP PCPG-TCGA-W2-A7UY-Normal-SM-5EMLN SCARB1 949 broad.mit.edu 37 12 125292412 125292412 + Missense_Mutation SNP C C G TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr12:125292412C>G ENST00000261693.6 - 7.0 1030 c.904G>C c.(904-906)Gtg>Ctg p.V302L SCARB1_ENST00000546215.1_Missense_Mutation_p.V302L|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000376788.1_Missense_Mutation_p.V202L|SCARB1_ENST00000339570.5_Missense_Mutation_p.V302L|SCARB1_ENST00000415380.2_Missense_Mutation_p.V302L|SCARB1_ENST00000541205.1_Missense_Mutation_p.V261L|SCARB1_ENST00000544327.1_Missense_Mutation_p.V248L|SCARB1_ENST00000540495.1_Missense_Mutation_p.V265L NM_005505.4 NP_005496.4 Q8WTV0 SCRB1_HUMAN scavenger receptor class B, member 1 302.0 adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060) caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886) 1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1) 17.0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) TTGGGAGCCACGAAGCGATAG 0.567 0 125.0 104.0 111.0 12 125292412.0 2203.0 4300.0 6503.0 SO:0001583 missense Z22555 CCDS9259.1, CCDS45008.1 12q24.32 2008-08-05 2002-09-06 2002-09-06 ENSG00000073060 ENSG00000073060 949.0 949.0 1664.0 protein-coding gene gene with protein product 601040 """CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1""" CD36L1 7689561 Standard NM_005505 NM_001082959 Approved SRB1, CLA-1, CLA1, SR-BI uc001ugm.4 Q8WTV0 OTTHUMG00000168544 ENST00000261693.6:c.904G>C 12.__UNKNOWN__:g.125292412C>G ENSP00000261693:p.Val302Leu F8W8N0|Q14016|Q52LZ5|Q6KFX4 __UNKNOWN__ CCDS9259.1 . . . . . . . . . . C 15.72 2.916249 0.52546 . . ENSG00000073060 ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495 T;T;T;T;T;T;T;T 0.72835 -0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69 5.57 3.61 0.41365 . 0.556823 0.19469 N 0.113514 T 0.70098 0.3185 M 0.87971 2.92 0.40100 D 0.976355 B;B;B;B;B;B 0.27380 0.048;0.026;0.177;0.177;0.039;0.044 B;B;B;B;B;B 0.29440 0.102;0.028;0.102;0.102;0.025;0.034 T 0.65961 -0.6041 10 0.41790 T 0.15 -21.1876 4.4721 0.11717 0.1524:0.5881:0.0:0.2595 . 261;302;302;302;302;302 B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2 .;.;.;SCRB1_HUMAN;.;. L 302;302;302;202;302;261;248;265 ENSP00000343795:V302L;ENSP00000414979:V302L;ENSP00000261693:V302L;ENSP00000365984:V202L;ENSP00000442862:V302L;ENSP00000446107:V261L;ENSP00000444851:V248L;ENSP00000443286:V265L ENSP00000261693:V302L V - 1 0 SCARB1 123858365 0.951000 0.32395 1.000000 0.80357 0.988000 0.76386 1.249000 0.32839 0.591000 0.29711 0.491000 0.48974 GTG SCARB1-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000400166.1 - ENST00000261693.6 Missense_Mutation SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK ZP1 22917 broad.mit.edu 37 11 60637317 60637317 + Missense_Mutation SNP C C T TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr11:60637317C>T ENST00000278853.5 + 3.0 626 c.626C>T c.(625-627)gCt>gTt p.A209V NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 209.0 binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338) extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141) breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26.0 GCCACCCTGGCTCAACCCCAC 0.587 0 58.0 55.0 56.0 11 60637317.0 2203.0 4299.0 6502.0 SO:0001583 missense BC067899 CCDS31572.1 11q12.2 2013-01-17 ENSG00000149506 ENSG00000149506 22917.0 22917.0 """Zona pellucida glycoproteins""" 13187.0 protein-coding gene gene with protein product 195000 10542331 Standard NM_207341 NM_207341 Approved uc001nqd.3 P60852 OTTHUMG00000167797 ENST00000278853.5:c.626C>T 11.__UNKNOWN__:g.60637317C>T ENSP00000278853:p.Ala209Val __UNKNOWN__ CCDS31572.1 . . . . . . . . . . C 14.70 2.614760 0.46631 . . ENSG00000149506 ENST00000278853 T 0.23348 1.91 4.44 3.52 0.40303 . . . . . T 0.15565 0.0375 N 0.22421 0.69 0.09310 N 1 B 0.30068 0.267 B 0.25291 0.059 T 0.17715 -1.0360 9 0.29301 T 0.29 -0.811 8.6112 0.33804 0.0:0.8903:0.0:0.1097 . 209 P60852 ZP1_HUMAN V 209 ENSP00000278853:A209V ENSP00000278853:A209V A + 2 0 ZP1 60393893 0.000000 0.05858 0.001000 0.08648 0.108000 0.19459 -0.518000 0.06267 0.978000 0.38470 0.460000 0.39030 GCT ZP1-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000396329.1 + ENST00000278853.5 Missense_Mutation SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK ING1 3621 broad.mit.edu 37 13 111366587 111366587 + Missense_Mutation SNP C C G TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr13:111366587C>G ENST00000333219.7 + 1.0 963 c.91C>G c.(91-93)Cag>Gag p.Q31E ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron NM_001267728.1|NM_198219.2 NP_001254657.1|NP_937862.1 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 0.0 cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941) nucleus (GO:0005634) methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270) endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12.0 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) TTTCGACTTGCAGAGAAATGT 0.627 0 79.0 62.0 68.0 13 111366587.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1 13q34 2013-01-28 ENSG00000153487 ENSG00000153487 3621.0 3621.0 """Zinc fingers, PHD-type""" 6062.0 protein-coding gene gene with protein product """inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1""" 601566 8944021, 9186514 Standard NM_005537 NM_198219 Approved p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a uc001vri.3 Q9UK53 OTTHUMG00000017346 ENST00000333219.7:c.91C>G 13.__UNKNOWN__:g.111366587C>G ENSP00000328436:p.Gln31Glu O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52 __UNKNOWN__ CCDS9516.1 . . . . . . . . . . C 16.24 3.067301 0.55539 . . ENSG00000153487 ENST00000333219 . . . 3.29 3.29 0.37713 . . . . . T 0.61702 0.2368 M 0.73217 2.22 0.80722 D 1 B 0.25719 0.132 B 0.25614 0.062 T 0.64647 -0.6358 8 0.48119 T 0.1 . 14.5205 0.67847 0.0:1.0:0.0:0.0 . 31 Q5T9H0 . E 31 . ENSP00000328436:Q31E Q + 1 0 ING1 110164588 1.000000 0.71417 0.976000 0.42696 0.024000 0.10985 6.600000 0.74132 1.375000 0.46248 0.561000 0.74099 CAG ING1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045767.1 + ENST00000333219.7 Missense_Mutation SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK ECT2 1894 broad.mit.edu 37 3 172480266 172480266 + Missense_Mutation SNP T T G TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr3:172480266T>G ENST00000232458.5 + 8.0 924 c.726T>G c.(724-726)gaT>gaG p.D242E ECT2_ENST00000427830.1_Missense_Mutation_p.D242E|ECT2_ENST00000417960.1_Missense_Mutation_p.D241E|ECT2_ENST00000392692.3_Missense_Mutation_p.D273E|ECT2_ENST00000441497.2_Missense_Mutation_p.D242E|ECT2_ENST00000540509.1_Missense_Mutation_p.D273E NM_018098.5 NP_060568.3 Q9H8V3 ECT2_HUMAN epithelial cell transforming 2 273.0 BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}. activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830) cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923) GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37.0 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) CATTTCAAGATTGTATTTTAA 0.294 0 91.0 88.0 89.0 3 172480266.0 2203.0 4298.0 6501.0 SO:0001583 missense AA206473 CCDS3220.1, CCDS58860.1 3q26.1-q26.2 2014-03-11 2014-03-11 ENSG00000114346 ENSG00000114346 1894.0 1894.0 """Rho guanine nucleotide exchange factors""" 3155.0 protein-coding gene gene with protein product 600586 """epithelial cell transforming sequence 2 oncogene""" 8464478, 10579713 Standard NM_018098 NM_018098 Approved ARHGEF31 uc003fil.2 Q9H8V3 OTTHUMG00000156762 ENST00000232458.5:c.726T>G 3.__UNKNOWN__:g.172480266T>G ENSP00000232458:p.Asp242Glu Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9 __UNKNOWN__ CCDS3220.1 . . . . . . . . . . T 18.26 3.584184 0.65992 . . ENSG00000114346 ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509 T;T;T;T;T;T 0.80653 -1.4;-1.4;-1.4;-1.4;-1.4;-1.4 5.81 3.38 0.38709 BRCT (4); 0.000000 0.85682 D 0.000000 D 0.84674 0.5524 M 0.65975 2.015 0.53005 D 0.999963 P;D;P;P 0.60575 0.869;0.988;0.841;0.841 P;P;P;P 0.61201 0.796;0.885;0.583;0.583 T 0.82684 -0.0335 10 0.38643 T 0.18 -25.621 9.2887 0.37773 0.0:0.3092:0.0:0.6908 . 273;273;242;241 Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2 ECT2_HUMAN;.;.;. E 242;273;242;241;242;273 ENSP00000232458:D242E;ENSP00000376457:D273E;ENSP00000401910:D242E;ENSP00000415876:D241E;ENSP00000412259:D242E;ENSP00000443160:D273E ENSP00000232458:D242E D + 3 2 ECT2 173962960 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 0.902000 0.28459 1.014000 0.39417 0.482000 0.46254 GAT ECT2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000345993.2 + ENST00000232458.5 Missense_Mutation SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK NBPF9 400818 broad.mit.edu 37 1 144828545 144828545 + Missense_Mutation SNP A A T TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr1:144828545A>T ENST00000468645.1 + 0.0 1888 NBPF9_ENST00000338347.4_Missense_Mutation_p.N531Y|NBPF9_ENST00000440491.2_Silent_p.S604S|NBPF9_ENST00000281815.8_Missense_Mutation_p.N129Y Q3BBW0 NBPF9_HUMAN neuroblastoma breakpoint family, member 9 cytoplasm (GO:0005737) p.N531Y(1) NS(2)|prostate(1) 3.0 TTCCAGGCTCAACGGCGTGCT 0.453 1 Substitution - Missense(1) endometrium(1) SO:0001624 3_prime_UTR_variant CCDS72895.1, CCDS72896.1 1q21.1 2013-01-17 ENSG00000168614 ENSG00000269713 400818.0 400818.0 """neuroblastoma breakpoint family""" 31991.0 protein-coding gene gene with protein product 613999 16079250 Standard NM_001037675 NM_001037675 Approved AE01 Q3BBW0 OTTHUMG00000013845 ENST00000468645.1:c.*1885A>T 1.__UNKNOWN__:g.144828545A>T __UNKNOWN__ . . . . . . . . . . . 9.174 1.021883 0.19433 . . ENSG00000168614 ENST00000338347;ENST00000281815 T;T 0.07444 3.19;3.19 0.618 -1.24 0.09435 . . . . . T 0.07638 0.0192 . . . 0.09310 N 1 D;P;B;B;P 0.71674 0.998;0.6;0.02;0.011;0.716 D;P;B;B;B 0.63488 0.915;0.701;0.029;0.084;0.194 T 0.12041 -1.0563 7 0.51188 T 0.08 . . . . . 595;191;762;537;604 Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04 .;.;.;.;. Y 531;129 ENSP00000342975:N531Y;ENSP00000281815:N129Y ENSP00000281815:N129Y N + 1 0 NBPF9 143539902 0.002000 0.14202 0.001000 0.08648 0.007000 0.05969 -0.395000 0.07287 -0.516000 0.06470 0.163000 0.16589 AAC NBPF9-002 KNOWN not_best_in_genome_evidence|basic processed_transcript protein_coding OTTHUMT00000038846.1 + ENST00000468645.1 3'UTR SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK RNPS1 10921 broad.mit.edu 37 16 2314324 2314324 + Missense_Mutation SNP G G A TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr16:2314324G>A ENST00000565678.1 - 3.0 625 c.80C>T c.(79-81)tCa>tTa p.S27L RNPS1_ENST00000301730.8_Missense_Mutation_p.S27L|RNPS1_ENST00000569598.2_Intron|RNPS1_ENST00000320225.5_Missense_Mutation_p.S27L|RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000567147.1_Missense_Mutation_p.S4L|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000566458.1_Missense_Mutation_p.S4L|RNPS1_ENST00000568631.1_Missense_Mutation_p.S27L|RNPS1_ENST00000397086.2_Missense_Mutation_p.S27L Q15287 RNPS1_HUMAN RNA binding protein S1, serine-rich domain 27.0 Lys-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1. gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351) ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1) 9.0 TTTGGTAGGTGAAGGAGCCCT 0.557 0 126.0 122.0 123.0 16 2314324.0 2198.0 4300.0 6498.0 SO:0001583 missense AF015608 CCDS10465.1, CCDS66907.1, CCDS73811.1 16p13.3 2013-02-12 2001-11-28 ENSG00000205937 ENSG00000205937 10921.0 10921.0 """RNA binding motif (RRM) containing""" 10080.0 protein-coding gene gene with protein product 606447 """RNA-binding protein S1, serine-rich domain""" 9580558, 8543184 Standard NM_080594 XM_005255048 Approved uc002cpu.3 Q15287 OTTHUMG00000128828 ENST00000565678.1:c.80C>T 16.__UNKNOWN__:g.2314324G>A ENSP00000457723:p.Ser27Leu A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3 __UNKNOWN__ CCDS10465.1 . . . . . . . . . . G 14.64 2.596501 0.46318 . . ENSG00000205937 ENST00000320225;ENST00000397086;ENST00000301730 T;T;T 0.06687 3.27;3.27;3.27 5.69 4.7 0.59300 . 0.053945 0.85682 D 0.000000 T 0.13072 0.0317 M 0.67953 2.075 0.58432 D 0.999999 B;B 0.18166 0.026;0.015 B;B 0.21917 0.037;0.017 T 0.01839 -1.1263 10 0.72032 D 0.01 -10.7989 13.4247 0.61018 0.0:0.0:0.8417:0.1583 . 4;27 Q15287-2;Q15287 .;RNPS1_HUMAN L 27 ENSP00000315859:S27L;ENSP00000380275:S27L;ENSP00000301730:S27L ENSP00000301730:S27L S - 2 0 RNPS1 2254325 1.000000 0.71417 1.000000 0.80357 0.737000 0.42083 9.092000 0.94157 1.337000 0.45525 0.551000 0.68910 TCA RNPS1-007 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000435415.1 - ENST00000565678.1 Missense_Mutation SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK PDE4A 5141 broad.mit.edu 37 19 10577609 10577609 + Missense_Mutation SNP C C T TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr19:10577609C>T ENST00000352831.6 + 15.0 2083 c.1973C>T c.(1972-1974)gCg>gTg p.A658V PDE4A_ENST00000344979.3_Missense_Mutation_p.A419V|PDE4A_ENST00000380702.2_Missense_Mutation_p.A636V|PDE4A_ENST00000592685.1_Missense_Mutation_p.A636V|PDE4A_ENST00000293683.5_Missense_Mutation_p.A632V|PDE4A_ENST00000440014.2_Missense_Mutation_p.A597V NM_001111307.1 NP_001104777.1 P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 658.0 Catalytic. cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165) cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) 3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27.0 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811) GAGACCTGGGCGGACCTTGTC 0.572 0 56.0 61.0 59.0 19 10577609.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1 19p13.2 2010-06-24 2010-06-24 ENSG00000065989 5141.0 5141.0 3.1.4.17 """Phosphodiesterases""" 8780.0 protein-coding gene gene with protein product """phosphodiesterase E2 dunce homolog (Drosophila)""" 600126 """phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)""" DPDE2 8009369 Standard NM_006202 Approved uc002moj.2 P27815 ENST00000352831.6:c.1973C>T 19.__UNKNOWN__:g.10577609C>T ENSP00000270474:p.Ala658Val O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2 __UNKNOWN__ CCDS45961.1 . . . . . . . . . . c 24.6 4.545472 0.86022 . . ENSG00000065989 ENST00000419866;ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979 D;D;D;D;D 0.81739 -1.53;-1.53;-1.53;-1.53;-1.53 4.87 4.87 0.63330 5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2); 0.111639 0.64402 D 0.000010 D 0.88433 0.6435 M 0.67700 2.07 0.54753 D 0.999987 D;D;D;D 0.89917 0.999;1.0;0.999;0.999 D;D;D;D 0.83275 0.936;0.996;0.942;0.965 D 0.89652 0.3870 10 0.87932 D 0 . 15.8874 0.79261 0.0:1.0:0.0:0.0 . 419;597;632;658 P27815-4;P27815-6;P27815-2;P27815 .;.;.;PDE4A_HUMAN V 100;636;658;632;597;419 ENSP00000370078:A636V;ENSP00000270474:A658V;ENSP00000293683:A632V;ENSP00000394754:A597V;ENSP00000341007:A419V ENSP00000293683:A632V A + 2 0 PDE4A 10438609 1.000000 0.71417 0.951000 0.38953 0.741000 0.42261 4.967000 0.63722 2.427000 0.82271 0.550000 0.68814 GCG PDE4A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000451244.1 + ENST00000352831.6 Missense_Mutation SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK TMEM132B 114795 broad.mit.edu 37 12 126138738 126138738 + Missense_Mutation SNP G G A TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr12:126138738G>A ENST00000299308.3 + 9.0 2727 c.2719G>A c.(2719-2721)Gtc>Atc p.V907I TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 907.0 integral component of membrane (GO:0016021) 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) 107.0 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) CTTGCTCTGCGTCTTCTGTCT 0.522 0 98.0 96.0 97.0 12 126138738.0 2038.0 4218.0 6256.0 SO:0001583 missense AB067493 CCDS41859.1, CCDS66501.1 12q24.31 2006-03-02 114795.0 114795.0 29397.0 protein-coding gene gene with protein product 11572484 Standard NM_052907 NM_001286219 Approved KIAA1906, KIAA1786 uc001uhe.1 Q14DG7 ENST00000299308.3:c.2719G>A 12.__UNKNOWN__:g.126138738G>A ENSP00000299308:p.Val907Ile A2RRG8|Q8NA73|Q96JN9|Q96PY1 __UNKNOWN__ CCDS41859.1 . . . . . . . . . . G 26.3 4.720217 0.89205 . . ENSG00000139364 ENST00000299308;ENST00000535886 T;T 0.21031 2.03;2.03 5.43 5.43 0.79202 . 0.107006 0.41294 N 0.000908 T 0.40372 0.1114 L 0.39467 1.215 0.80722 D 1 D 0.89917 1.0 D 0.83275 0.996 T 0.06991 -1.0796 10 0.45353 T 0.12 . 19.2594 0.93961 0.0:0.0:1.0:0.0 . 907 Q14DG7 T132B_HUMAN I 907;419 ENSP00000299308:V907I;ENSP00000440436:V419I ENSP00000299308:V907I V + 1 0 TMEM132B 124704691 1.000000 0.71417 0.985000 0.45067 0.895000 0.52256 7.748000 0.85085 2.543000 0.85770 0.655000 0.94253 GTC TMEM132B-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000400043.1 + ENST00000299308.3 Missense_Mutation SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK RFTN1 23180 broad.mit.edu 37 3 16419524 16419524 + Missense_Mutation SNP G G A TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr3:16419524G>A ENST00000334133.4 - 5.0 799 c.527C>T c.(526-528)gCt>gTt p.A176V RFTN1_ENST00000432519.1_Missense_Mutation_p.A140V NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 176.0 B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138) cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234) double-stranded RNA binding (GO:0003725) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38.0 AGACACCGGAGCACTGCTGCC 0.552 0 70.0 65.0 67.0 3 16419524.0 2203.0 4300.0 6503.0 SO:0001583 missense D42043 CCDS33712.1 3p24.3 2010-04-09 ENSG00000131378 ENSG00000131378 23180.0 23180.0 30278.0 protein-coding gene gene with protein product """raft-linking protein""" 7788527, 12805216 Standard NM_015150 NM_015150 Approved MIG2, KIAA0084, FLJ23866, Raftlin uc003cay.3 Q14699 OTTHUMG00000156973 ENST00000334133.4:c.527C>T 3.__UNKNOWN__:g.16419524G>A ENSP00000334153:p.Ala176Val Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2 __UNKNOWN__ CCDS33712.1 . . . . . . . . . . G 11.39 1.625414 0.28889 . . ENSG00000131378 ENST00000432519;ENST00000334133;ENST00000451036 T;T;T 0.30981 1.51;1.51;1.51 5.71 2.91 0.33838 . 1.762400 0.02361 N 0.076893 T 0.14700 0.0355 N 0.02011 -0.69 0.09310 N 1 B;B 0.16802 0.019;0.019 B;B 0.12156 0.007;0.005 T 0.16748 -1.0392 10 0.33940 T 0.23 -5.0933 6.9532 0.24556 0.1532:0.1494:0.6974:0.0 . 140;176 G3XAJ6;Q14699 .;RFTN1_HUMAN V 140;176;176 ENSP00000403926:A140V;ENSP00000334153:A176V;ENSP00000403997:A176V ENSP00000334153:A176V A - 2 0 RFTN1 16394528 0.022000 0.18835 0.003000 0.11579 0.012000 0.07955 2.097000 0.41748 0.731000 0.32448 0.561000 0.74099 GCT RFTN1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000346908.1 - ENST00000334133.4 Missense_Mutation SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK GPR50 9248 broad.mit.edu 37 X 150349267 150349267 + Missense_Mutation SNP C C G TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chrX:150349267C>G ENST00000218316.3 + 2.0 1281 c.1212C>G c.(1210-1212)caC>caG p.H404Q NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 404.0 Pro-rich. cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186) integral component of plasma membrane (GO:0005887) G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502) p.H404Q(2) breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38.0 Acute lymphoblastic leukemia(192;6.56e-05) CTACCCACCACAAGTCTGTCT 0.602 2 Substitution - Missense(2) endometrium(2) 111.0 125.0 120.0 X 150349267.0 2086.0 4201.0 6287.0 SO:0001583 missense U52219 CCDS44012.1 Xq28 2012-08-21 ENSG00000102195 ENSG00000102195 9248.0 9248.0 """GPCR / Class A : Orphans""" 4506.0 protein-coding gene gene with protein product 300207 9933574, 18400093 Standard NM_004224 NM_004224 Approved H9, Mel1c uc010ntg.2 Q13585 OTTHUMG00000024166 ENST00000218316.3:c.1212C>G X.__UNKNOWN__:g.150349267C>G ENSP00000218316:p.His404Gln Q0VGG3|Q3ZAR0 __UNKNOWN__ CCDS44012.1 . . . . . . . . . . C 1.670 -0.509242 0.04231 . . ENSG00000102195 ENST00000218316 T 0.72942 -0.7 3.91 -7.81 0.01210 . 0.912891 0.09022 N 0.860024 T 0.40956 0.1138 N 0.19112 0.55 0.09310 N 1 P 0.35982 0.531 B 0.22753 0.041 T 0.30416 -0.9979 10 0.49607 T 0.09 -0.5391 3.6865 0.08329 0.1029:0.2982:0.1007:0.4981 . 404 Q13585 MTR1L_HUMAN Q 404 ENSP00000218316:H404Q ENSP00000218316:H404Q H + 3 2 GPR50 150099925 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.338000 0.07842 -3.015000 0.00271 -2.401000 0.00224 CAC GPR50-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060874.1 + ENST00000218316.3 Missense_Mutation SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK RP11-81K2.1 5245 broad.mit.edu 37 17 47486440 47486440 + Silent SNP G G A TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr17:47486440G>A ENST00000576461.1 + 2.0 270 PHB_ENST00000508009.1_5'UTR|PHB_ENST00000511832.1_Intron|PHB_ENST00000300408.3_Silent_p.A158A CAAAGGTGGCGGCTCGCTCTG 0.587 0 73.0 69.0 70.0 17 47486440.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant ENST00000576461.1:c.178+35992G>A 17.__UNKNOWN__:g.47486440G>A __UNKNOWN__ RP11-81K2.1-001 PUTATIVE basic|appris_principal|exp_conf protein_coding protein_coding OTTHUMT00000439714.1 + ENST00000576461.1 Intron SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK SEMA6D 80031 broad.mit.edu 37 15 48063896 48063896 + Missense_Mutation SNP C C T TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr15:48063896C>T ENST00000316364.5 + 19.0 3575 c.3136C>T c.(3136-3138)Ccg>Tcg p.P1046S SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P990S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P984S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P971S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P1046S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P984S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P1027S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P984S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P1003S NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 1046.0 axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor activity (GO:0004872) 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) 77.0 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) AAAGAGGACGCCGTCCTTAAA 0.512 0 178.0 176.0 177.0 15 48063896.0 2198.0 4297.0 6495.0 SO:0001583 missense AF389430 CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1 15q21.1 2006-09-18 ENSG00000137872 80031.0 80031.0 """Semaphorins""" 16770.0 protein-coding gene gene with protein product 609295 12110693, 14977921 Standard NM_024966 NM_020858 Approved KIAA1479, FLJ11598 uc001zvy.3 Q8NFY4 ENST00000316364.5:c.3136C>T 15.__UNKNOWN__:g.48063896C>T ENSP00000324857:p.Pro1046Ser A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249 __UNKNOWN__ CCDS32225.1 . . . . . . . . . . C 14.18 2.459828 0.43736 . . ENSG00000137872 ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428 T;T;T;T;T;T;T;T 0.18016 2.24;2.27;2.27;2.29;2.24;2.24;2.24;2.25 5.2 5.2 0.72013 . 0.348334 0.33631 N 0.004718 T 0.29158 0.0725 L 0.46157 1.445 0.80722 D 1 B;B;D;B 0.58268 0.259;0.164;0.982;0.259 B;B;P;B 0.52424 0.041;0.041;0.698;0.041 T 0.00931 -1.1510 10 0.66056 D 0.02 . 18.9313 0.92566 0.0:1.0:0.0:0.0 . 971;990;1046;984 Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2 .;.;SEM6D_HUMAN;. S 984;1046;1046;1027;1003;990;984;971 ENSP00000442040:P984S;ENSP00000446152:P1046S;ENSP00000324857:P1046S;ENSP00000374084:P1027S;ENSP00000374083:P1003S;ENSP00000346786:P990S;ENSP00000350770:P984S;ENSP00000374079:P971S ENSP00000324857:P1046S P + 1 0 SEMA6D 45851188 1.000000 0.71417 1.000000 0.80357 0.971000 0.66376 4.360000 0.59455 2.717000 0.92951 0.655000 0.94253 CCG SEMA6D-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000416868.1 + ENST00000316364.5 Missense_Mutation SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK PTCRA 171558 broad.mit.edu 37 6 42890951 42890951 + Missense_Mutation SNP C C T TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr6:42890951C>T ENST00000304672.1 + 2.0 326 c.245C>T c.(244-246)aCg>aTg p.T82M PTCRA_ENST00000441198.1_Missense_Mutation_p.T57M|PTCRA_ENST00000446507.1_Intron NM_001243168.1|NM_138296.2 NP_001230097.1|NP_612153.2 Q6ISU1 PTCRA_HUMAN pre T-cell antigen receptor alpha 82.0 negative regulation of thymocyte apoptotic process (GO:0070244) integral component of membrane (GO:0016021) large_intestine(2)|lung(4)|ovary(2) 8.0 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) TCCCCAGCAACGGATGGCACC 0.622 0 170.0 134.0 146.0 6 42890951.0 2203.0 4300.0 6503.0 SO:0001583 missense AF084941 CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1 6p21.3 2008-02-05 ENSG00000171611 ENSG00000171611 171558.0 171558.0 21290.0 protein-coding gene gene with protein product 606817 8618853, 9842925 Standard NM_138296 NM_138296 Approved PTA, PT-ALPHA uc021yzp.1 Q6ISU1 OTTHUMG00000014709 ENST00000304672.1:c.245C>T 6.__UNKNOWN__:g.42890951C>T ENSP00000304447:p.Thr82Met Q5TFZ7 __UNKNOWN__ CCDS4874.1 . . . . . . . . . . C 10.81 1.455906 0.26161 . . ENSG00000171611 ENST00000304672;ENST00000441198 T;T 0.47869 0.88;0.83 5.84 -6.42 0.01932 Immunoglobulin-like fold (1); 1.223990 0.05940 N 0.636752 T 0.06234 0.0161 N 0.08118 0 0.09310 N 1 B;B 0.29253 0.239;0.016 B;B 0.15870 0.014;0.002 T 0.11470 -1.0586 10 0.56958 D 0.05 0.1062 0.4573 0.00511 0.2636:0.3062:0.1877:0.2426 . 57;82 Q6ISU1-3;Q6ISU1 .;PTCRA_HUMAN M 82;57 ENSP00000304447:T82M;ENSP00000409550:T57M ENSP00000304447:T82M T + 2 0 PTCRA 42998929 0.000000 0.05858 0.000000 0.03702 0.954000 0.61252 -0.603000 0.05674 -1.119000 0.02958 -1.223000 0.01593 ACG PTCRA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040565.2 + ENST00000304672.1 Missense_Mutation SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK NRL 4901 broad.mit.edu 37 14 24551759 24551759 + Missense_Mutation SNP T T C TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr14:24551759T>C ENST00000561028.1 - 2.0 618 c.299A>G c.(298-300)cAg>cGg p.Q100R NRL_ENST00000396997.1_Missense_Mutation_p.Q100R|NRL_ENST00000397002.2_Missense_Mutation_p.Q100R P54845 NRL_HUMAN neural retina leucine zipper 100.0 positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of rhodopsin gene expression (GO:0007468)|response to stimulus (GO:0050896)|retinal rod cell development (GO:0046548)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601) nucleus (GO:0005634) DNA binding (GO:0003677)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) lung(2) 2.0 GBM - Glioblastoma multiforme(265;0.0181) GCCCTGACCCTGCAGCAGCTC 0.657 0 33.0 36.0 35.0 14 24551759.0 2198.0 4294.0 6492.0 SO:0001583 missense CCDS9608.1 14q11.1-q11.2 2013-01-08 ENSG00000129535 ENSG00000129535 4901.0 4901.0 8002.0 protein-coding gene gene with protein product 162080 1427865, 10192380 Standard NM_006177 Approved D14S46E, RP27, NRL-MAF uc021rrk.1 P54845 OTTHUMG00000028789 ENST00000561028.1:c.299A>G 14.__UNKNOWN__:g.24551759T>C ENSP00000454062:p.Gln100Arg A8MX14|Q53XD0 __UNKNOWN__ CCDS9608.1 . . . . . . . . . . T 7.337 0.620185 0.14193 . . ENSG00000129535 ENST00000397002;ENST00000396997 T;T 0.77229 -1.08;-1.08 5.19 5.19 0.71726 Maf transcription factor, N-terminal (1); 0.226336 0.34025 N 0.004322 T 0.64789 0.2630 L 0.36672 1.1 0.80722 D 1 B 0.29232 0.238 B 0.28011 0.085 T 0.59820 -0.7382 10 0.18710 T 0.47 -31.6105 8.3962 0.32559 0.1742:0.0:0.0:0.8258 . 100 P54845 NRL_HUMAN R 100 ENSP00000380197:Q100R;ENSP00000380193:Q100R ENSP00000337023:Q100R Q - 2 0 NRL 23621599 1.000000 0.71417 1.000000 0.80357 0.976000 0.68499 1.455000 0.35190 2.177000 0.69029 0.533000 0.62120 CAG NRL-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000415595.1 - ENST00000561028.1 Missense_Mutation SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK GCKR 2646 broad.mit.edu 37 2 27728649 27728649 + Missense_Mutation SNP C C G TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr2:27728649C>G ENST00000264717.2 + 10.0 878 c.815C>G c.(814-816)aCc>aGc p.T272S GCKR_ENST00000424318.2_Missense_Mutation_p.T82S NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 272.0 SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}. carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654) carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095) breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29.0 Acute lymphoblastic leukemia(172;0.155) CTGCTGGAAACCCTGTTATTA 0.542 0 108.0 98.0 101.0 2 27728649.0 2203.0 4300.0 6503.0 SO:0001583 missense Z48475 CCDS1757.1 2p23 2008-05-21 2004-05-20 ENSG00000084734 ENSG00000084734 2646.0 2646.0 4196.0 protein-coding gene gene with protein product 600842 """glucokinase (hexokinase 4) regulatory protein""" 9570959, 8662230 Standard NM_001486 NM_001486 Approved uc002rky.3 Q14397 OTTHUMG00000128426 ENST00000264717.2:c.815C>G 2.__UNKNOWN__:g.27728649C>G ENSP00000264717:p.Thr272Ser A1L4C2|B4DPQ2|Q53RY6|Q99522 __UNKNOWN__ CCDS1757.1 . . . . . . . . . . C 16.58 3.163871 0.57476 . . ENSG00000084734 ENST00000264717;ENST00000424318 T;T 0.60920 0.15;0.96 3.88 3.88 0.44766 Sugar isomerase (SIS) (1); 0.336772 0.28187 N 0.016264 T 0.62478 0.2431 L 0.43152 1.355 0.28847 N 0.896271 D;P;P 0.55800 0.973;0.928;0.798 P;B;P 0.56088 0.791;0.441;0.511 T 0.60821 -0.7187 10 0.66056 D 0.02 -8.9497 13.7334 0.62802 0.0:1.0:0.0:0.0 . 82;272;272 F5H1P6;A8K731;Q14397 .;.;GCKR_HUMAN S 272;82 ENSP00000264717:T272S;ENSP00000409109:T82S ENSP00000264717:T272S T + 2 0 GCKR 27582153 0.956000 0.32656 1.000000 0.80357 0.991000 0.79684 1.324000 0.33712 2.162000 0.67917 0.655000 0.94253 ACC GCKR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250214.1 + ENST00000264717.2 Missense_Mutation SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK MEGF10 84466 broad.mit.edu 37 5 126754828 126754828 + Missense_Mutation SNP C C T TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr5:126754828C>T ENST00000274473.6 + 12.0 1589 c.1322C>T c.(1321-1323)aCc>aTc p.T441I MEGF10_ENST00000508365.1_Missense_Mutation_p.T441I|MEGF10_ENST00000418761.2_Missense_Mutation_p.T441I|MEGF10_ENST00000503335.2_Missense_Mutation_p.T441I NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 441.0 Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841) cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891) breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68.0 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) GACTGCTCTACCCCATGCCCT 0.443 0 230.0 212.0 218.0 5 126754828.0 2203.0 4300.0 6503.0 SO:0001583 missense AK021631 CCDS4142.1 5q33 2008-02-05 ENSG00000145794 ENSG00000145794 84466.0 84466.0 29634.0 protein-coding gene gene with protein product 612453 11347906 Standard NM_032446 NM_032446 Approved KIAA1780 uc003kui.4 Q96KG7 OTTHUMG00000128984 ENST00000274473.6:c.1322C>T 5.__UNKNOWN__:g.126754828C>T ENSP00000274473:p.Thr441Ile Q68DE5|Q8WUL3 __UNKNOWN__ CCDS4142.1 . . . . . . . . . . C 9.462 1.093453 0.20471 . . ENSG00000145794 ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473 T;T;T;T 0.48522 0.81;0.81;0.81;0.81 5.73 0.584 0.17422 EGF-like region, conserved site (1); 0.378995 0.25405 N 0.030909 T 0.20941 0.0504 N 0.03115 -0.41 0.09310 N 1 B;B 0.06786 0.001;0.0 B;B 0.04013 0.001;0.001 T 0.18871 -1.0323 10 0.25106 T 0.35 -1.6204 9.9594 0.41686 0.0:0.5591:0.0:0.4409 . 441;441 Q96KG7-2;Q96KG7 .;MEG10_HUMAN I 441 ENSP00000423354:T441I;ENSP00000423195:T441I;ENSP00000416284:T441I;ENSP00000274473:T441I ENSP00000274473:T441I T + 2 0 MEGF10 126782727 0.002000 0.14202 0.043000 0.18650 0.756000 0.42949 0.370000 0.20433 0.088000 0.17205 0.655000 0.94253 ACC MEGF10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250973.2 + ENST00000274473.6 Missense_Mutation SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK TFAP4 7023 broad.mit.edu 37 16 4312678 4312678 + Silent SNP G G C TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr16:4312678G>C ENST00000204517.6 - 2.0 442 c.114C>G c.(112-114)ccC>ccG p.P38P NM_003223.2 NP_003214.1 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer binding protein 4) 38.0 cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212) NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 14.0 GCTGAGTCTCGGGGGTTAGTG 0.622 0 80.0 84.0 83.0 16 4312678.0 2197.0 4300.0 6497.0 SO:0001819 synonymous_variant X57435 CCDS10510.1 16p13 2013-05-21 2001-11-28 ENSG00000090447 ENSG00000090447 7023.0 7023.0 """Basic helix-loop-helix proteins""" 11745.0 protein-coding gene gene with protein product 600743 """transcription factor AP-4 (activating enhancer-binding protein 4)""" 2123466 Standard NM_003223 NM_003223 Approved AP-4, bHLHc41 uc010uxg.2 Q01664 OTTHUMG00000129435 ENST00000204517.6:c.114C>G 16.__UNKNOWN__:g.4312678G>C O60409 __UNKNOWN__ CCDS10510.1 TFAP4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251595.2 - ENST00000204517.6 Silent SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK CYFIP2 26999 broad.mit.edu 37 5 156787349 156787349 + Silent SNP C C T TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr5:156787349C>T ENST00000521420.1 + 24.0 2890 c.2799C>T c.(2797-2799)tgC>tgT p.C933C CYFIP2_ENST00000318218.6_Silent_p.C984C|CYFIP2_ENST00000377576.3_Silent_p.C959C|CYFIP2_ENST00000522463.1_Silent_p.C763C|CYFIP2_ENST00000435847.2_Silent_p.C658C|CYFIP2_ENST00000541131.1_Silent_p.C884C|CYFIP2_ENST00000347377.6_Silent_p.C959C|CYFIP2_ENST00000442283.2_3'UTR cytoplasmic FMR1 interacting protein 2 breast(1)|endometrium(12)|kidney(2)|lung(23) 38.0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCAAGATATGCCGCTTGCCCC 0.517 0 C ,, 0,4108 0,0,2054 146.0 149.0 148.0 2877,2877,2877 1.8 1.0 5 148.0 1,8453 0,1,4226 no coding-synonymous,coding-synonymous,coding-synonymous CYFIP2 NM_001037332.2,NM_001037333.1,NM_014376.2 ,, 0,1,6280 TT,TC,CC 0.0118,0.0,0.0080 ,, 959/1254,959/1254,959/1254 156787349.0 1,12561 2054.0 4227.0 6281.0 SO:0001819 synonymous_variant AF160973 CCDS75364.1 5q34 2008-07-18 ENSG00000055163 26999.0 26999.0 13760.0 protein-coding gene gene with protein product """p53 inducible protein""" 606323 11438699 Standard NM_001037332 NM_001037333 Approved PIR121 uc021ygm.1 Q96F07 ENST00000521420.1:c.2799C>T 5.__UNKNOWN__:g.156787349C>T __UNKNOWN__ CYFIP2-001 NOVEL basic protein_coding protein_coding OTTHUMT00000373710.1 + ENST00000521420.1 Silent SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK DNAH2 146754 bcgsc.ca 37 17 7696495 7696495 + Missense_Mutation SNP G G A TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr17:7696495G>A ENST00000572933.1 + 48.0 9001 c.7541G>A c.(7540-7542)cGt>cAt p.R2514H DNAH2_ENST00000389173.2_Missense_Mutation_p.R2514H Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2514.0 AAA 3. {ECO:0000250}. cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) 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) 189.0 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGGTATGACCGTACGAAGCAG 0.532 0 97.0 86.0 90.0 17 7696495.0 2203.0 4300.0 6503.0 SO:0001583 missense U83570, AK128517 CCDS32551.1 17p13.1 2007-10-05 2006-09-04 ENSG00000183914 146754.0 146754.0 """Axonemal dyneins""" 2948.0 protein-coding gene gene with protein product 603333 """dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3""" DNHD3 9256245 Standard NM_020877 XM_005256470 Approved KIAA1503, FLJ46675 uc002giu.1 Q9P225 ENST00000572933.1:c.7541G>A 17.__UNKNOWN__:g.7696495G>A ENSP00000458355:p.Arg2514His A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42 __UNKNOWN__ CCDS32551.1 . . . . . . . . . . G 12.16 1.853312 0.32699 . . ENSG00000183914 ENST00000360606;ENST00000389173 T 0.51071 0.72 4.39 2.28 0.28536 ATPase, AAA+ type, core (1); 0.330245 0.26390 N 0.024651 T 0.63153 0.2487 M 0.91038 3.17 0.80722 D 1 D 0.54964 0.969 P 0.50231 0.635 T 0.70597 -0.4828 10 0.59425 D 0.04 . 11.8063 0.52156 0.0:0.0:0.6818:0.3182 . 2514 Q9P225 DYH2_HUMAN H 2514 ENSP00000373825:R2514H ENSP00000353818:R2514H R + 2 0 DNAH2 7637220 1.000000 0.71417 0.346000 0.25655 0.101000 0.19017 3.571000 0.53841 0.437000 0.26423 0.632000 0.83419 CGT DNAH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000440241.1 + ENST00000572933.1 Missense_Mutation SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK C12orf66 144577 ucsc.edu 37 12 64609493 64609493 + Silent SNP G G A TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr12:64609493G>A ENST00000311915.8 - 2.0 513 c.486C>T c.(484-486)ggC>ggT p.G162G C12orf66_ENST00000544871.1_Silent_p.G109G|C12orf66_ENST00000398055.3_Silent_p.G162G Q96MD2 CL066_HUMAN chromosome 12 open reading frame 66 162.0 central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1) 5.0 CATCCAAAAGGCCAACGAGCT 0.498 0 74.0 70.0 71.0 12 64609493.0 1987.0 4176.0 6163.0 SO:0001819 synonymous_variant CCDS41803.1, CCDS73490.1 12q14.2 2008-08-08 ENSG00000174206 ENSG00000174206 144577.0 144577.0 26517.0 protein-coding gene gene with protein product 12477932 Standard NM_152440 NM_152440 Approved FLJ32549 uc001srw.4 Q96MD2 OTTHUMG00000168763 ENST00000311915.8:c.486C>T 12.__UNKNOWN__:g.64609493G>A C9JX54|Q8IYA0 __UNKNOWN__ C12orf66-003 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000400919.1 - ENST00000311915.8 Silent SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK MUM1 84939 ucsc.edu 37 19 1356403 1356403 + Silent SNP C C T rs145653615 TCGA-WB-A80K-01A-11D-A35I-08 TCGA-WB-A80K-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 8a1af203-5d3f-48c4-88bd-be808fe0f6f8 731b0a29-9ad3-4daf-98c1-7cf7ba584796 g.chr19:1356403C>T ENST00000415183.3 + 1.0 41 c.15C>T c.(13-15)gcC>gcT p.A5A MUM1_ENST00000591806.1_Silent_p.A5A|MUM1_ENST00000344663.3_Silent_p.A5A|MUM1_ENST00000311401.5_5'UTR Q2TAK8 MUM1_HUMAN melanoma associated antigen (mutated) 1 4.0 chromatin organization (GO:0006325)|DNA repair (GO:0006281) nucleus (GO:0005634) nucleosome binding (GO:0031491) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18.0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGCGGATGCCAAGTATGTCC 0.488 0 C 1,4405 2.1+/-5.4 0,1,2202 146.0 117.0 127.0 15 2.3 1.0 19 dbSNP_134 127.0 0,8600 0,0,4300 no coding-synonymous MUM1 NM_032853.3 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 5/712 1356403.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK075241 CCDS12062.1 19p13.3 2008-02-05 ENSG00000160953 84939.0 84939.0 29641.0 protein-coding gene gene with protein product 11042152, 7644523 Standard NM_032853 NM_032853 Approved MUM-1 uc002lrz.2 Q2TAK8 ENST00000415183.3:c.15C>T 19.__UNKNOWN__:g.1356403C>T A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67 __UNKNOWN__ . . . . . . . . . . C 10.01 1.234386 0.22626 2.27E-4 0.0 ENSG00000160953 ENST00000356765 . . . 4.7 2.28 0.28536 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 3.8137 0.08806 0.2434:0.6265:0.0:0.13 . . . . . -1 . . . + . . MUM1 1307403 0.990000 0.36364 1.000000 0.80357 0.558000 0.35554 1.172000 0.31908 2.138000 0.66242 0.563000 0.77884 . MUM1-016 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000449510.1 + ENST00000415183.3 Silent SNP PCPG-TCGA-WB-A80K-Normal-SM-5EMMK RAC2 5880 broad.mit.edu 37 22 37622822 37622822 + Missense_Mutation SNP C C A TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr22:37622822C>A ENST00000405484.1 - 6.0 732 c.449G>T c.(448-450)tGc>tTc p.C150F RAC2_ENST00000249071.6_Missense_Mutation_p.C157F|RAC2_ENST00000406508.1_Missense_Mutation_p.C113F P15153 RAC2_HUMAN ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 157.0 actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|GTPase activity (GO:0003924) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 12.0 Dextromethorphan(DB00514) GAGAGCTGAGCACTCCAGGTA 0.632 0 56.0 64.0 61.0 22 37622822.0 2203.0 4299.0 6502.0 SO:0001583 missense M64595 CCDS13945.1 22q13.1 2014-09-17 ENSG00000128340 ENSG00000128340 5880.0 5880.0 """Endogenous ligands""" 9802.0 protein-coding gene gene with protein product 602049 2674130 Standard NM_002872 Approved EN-7 uc003arc.3 P15153 OTTHUMG00000150540 ENST00000405484.1:c.449G>T 22.__UNKNOWN__:g.37622822C>A ENSP00000385590:p.Cys150Phe Q9UDJ4 __UNKNOWN__ . . . . . . . . . . c 24.5 4.536645 0.85812 . . ENSG00000128340 ENST00000249071;ENST00000406508;ENST00000405484;ENST00000441619 T;T;T;T 0.71222 -0.55;-0.55;-0.55;-0.55 4.88 4.88 0.63580 . 0.000000 0.85682 D 0.000000 D 0.91570 0.7337 H 0.99435 4.565 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 D 0.95587 0.8651 10 0.87932 D 0 . 18.0477 0.89337 0.0:1.0:0.0:0.0 . 157 P15153 RAC2_HUMAN F 157;113;150;157 ENSP00000249071:C157F;ENSP00000385270:C113F;ENSP00000385590:C150F;ENSP00000403778:C157F ENSP00000249071:C157F C - 2 0 RAC2 35952768 1.000000 0.71417 1.000000 0.80357 0.915000 0.54546 7.815000 0.86186 2.250000 0.74265 0.556000 0.70494 TGC RAC2-007 NOVEL basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000318818.1 - ENST00000405484.1 Missense_Mutation SNP PCPG-TCGA-WB-A80L-Normal-SM-5EMLU MUC16 94025 broad.mit.edu 37 19 8999459 8999459 + Missense_Mutation SNP G G C TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr19:8999459G>C ENST00000397910.4 - 56.0 40919 c.40716C>G c.(40714-40716)agC>agG p.S13572R MUC16_ENST00000380951.5_Missense_Mutation_p.S213R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13574.0 SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}. Missing (in Ref. 3; AAK74120). {ECO:0000305}. cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982) 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) 590.0 GGGTCAGCTGGCTCAGCTCCC 0.567 0 210.0 178.0 188.0 19 8999459.0 2053.0 4202.0 6255.0 SO:0001583 missense AF414442 CCDS54212.1 19p13.2 2008-02-05 2006-03-14 ENSG00000181143 94025.0 94025.0 """Mucins""" 15582.0 protein-coding gene gene with protein product 606154 11369781 Standard NM_024690 XM_006722941 Approved CA125, FLJ14303 uc002mkp.3 Q8WXI7 ENST00000397910.4:c.40716C>G 19.__UNKNOWN__:g.8999459G>C ENSP00000381008:p.Ser13572Arg Q6ZQW5|Q96RK2 __UNKNOWN__ CCDS54212.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. 9.964|9.964 1.223722|1.223722 0.22457|0.22457 .|. .|. ENSG00000181143|ENSG00000181143 ENST00000542240|ENST00000397910;ENST00000380951 .|T;T .|0.35789 .|1.29;1.29 3.48|3.48 1.2|1.2 0.21068|0.21068 .|SEA (2); .|. .|. .|. .|. T|T 0.56499|0.56499 0.1989|0.1989 M|M 0.88842|0.88842 2.985|2.985 .|. .|. .|. .|P;D .|0.54207 .|0.863;0.965 .|B;D .|0.63957 .|0.431;0.92 T|T 0.61133|0.61133 -0.7124|-0.7124 4|8 .|0.72032 .|D .|0.01 -5.4046|-5.4046 3.8451|3.8451 0.08931|0.08931 0.1344:0.0:0.6161:0.2495|0.1344:0.0:0.6161:0.2495 .|. .|21217;13572 .|Q8WXI7;B5ME49 .|MUC16_HUMAN;. G|R 412|13572;213 .|ENSP00000381008:S13572R;ENSP00000370338:S213R .|ENSP00000370338:S213R A|S -|- 2|3 0|2 MUC16|MUC16 8860459|8860459 0.004000|0.004000 0.15560|0.15560 0.435000|0.435000 0.26784|0.26784 0.209000|0.209000 0.24338|0.24338 0.368000|0.368000 0.20399|0.20399 0.249000|0.249000 0.21456|0.21456 0.555000|0.555000 0.69702|0.69702 GCC|AGC MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402806.1 - ENST00000397910.4 Missense_Mutation SNP PCPG-TCGA-WB-A80L-Normal-SM-5EMLU PPARGC1A 10891 broad.mit.edu 37 4 23816227 23816227 + Splice_Site SNP G G T TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr4:23816227G>T ENST00000264867.2 - 8.0 998 c.879C>A c.(877-879)ggC>ggA p.G293G PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 293.0 Interaction with PPARG. androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367) cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625) central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51.0 Breast(46;0.0503) GTGGAGTTAGGCCTAAGGCAA 0.393 Esophageal Squamous(29;694 744 13796 34866 44181) 0 45.0 48.0 47.0 4 23816227.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AF106698 CCDS3429.1 4p15.1 2013-02-12 2006-10-17 2004-02-04 ENSG00000109819 ENSG00000109819 10891.0 10891.0 """RNA binding motif (RRM) containing""" 9237.0 protein-coding gene gene with protein product 604517 """peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha""" PPARGC1 10585775 Standard NM_013261 NM_013261 Approved PGC1, PGC1A uc003gqs.3 Q9UBK2 OTTHUMG00000097747 ENST00000264867.2:c.878-1C>A 4.__UNKNOWN__:g.23816227G>T B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32 __UNKNOWN__ CCDS3429.1 PPARGC1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214976.1 Silent - ENST00000264867.2 Splice_Site SNP PCPG-TCGA-WB-A80L-Normal-SM-5EMLU SHANK2 22941 broad.mit.edu 37 11 70319087 70319087 + Missense_Mutation SNP C C T TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr11:70319087C>T ENST00000409161.1 - 10.0 3648 c.3649G>A c.(3649-3651)Gat>Aat p.D1217N SHANK2_ENST00000449833.2_Missense_Mutation_p.D1218N|SHANK2_ENST00000423696.2_Missense_Mutation_p.D1434N|SHANK2_ENST00000338508.4_Missense_Mutation_p.D1814N Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1434.0 adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255) 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) 62.0 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TGACTGCCATCGATCTCATTG 0.478 0 196.0 189.0 191.0 11 70319087.0 2200.0 4294.0 6494.0 SO:0001583 missense AF141901 11q13.2 2013-01-10 ENSG00000162105 ENSG00000162105 22941.0 22941.0 """Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing""" 14295.0 protein-coding gene gene with protein product 603290 """cortactin binding protein 1""" CORTBP1 10506216 Standard NM_012309 XM_005277930 Approved CTTNBP1, ProSAP1, SHANK, SPANK-3 uc001oqc.3 Q9UPX8 OTTHUMG00000154615 ENST00000409161.1:c.3649G>A 11.__UNKNOWN__:g.70319087C>T ENSP00000386491:p.Asp1217Asn C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1 __UNKNOWN__ . . . . . . . . . . C 35 5.454502 0.96223 . . ENSG00000162105 ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018 T;T;T;T;T;T 0.57595 0.39;0.39;0.39;0.39;0.39;0.39 6.03 6.03 0.97812 Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1); 0.134298 0.64402 D 0.000003 T 0.69771 0.3148 L 0.49350 1.555 0.80722 D 1 D;D;D 0.89917 0.999;1.0;0.999 D;D;D 0.72075 0.976;0.936;0.959 T 0.68070 -0.5506 10 0.59425 D 0.04 . 20.5568 0.99304 0.0:1.0:0.0:0.0 . 1434;1813;1218 Q9UPX8;Q9UPX8-3;Q9UPX8-4 SHAN2_HUMAN;.;. N 1218;1217;1092;1814;1434;1452;1437 ENSP00000399423:D1218N;ENSP00000386491:D1217N;ENSP00000402944:D1092N;ENSP00000345193:D1814N;ENSP00000394536:D1434N;ENSP00000294018:D1437N ENSP00000294018:D1437N D - 1 0 SHANK2 69996735 1.000000 0.71417 0.994000 0.49952 0.976000 0.68499 7.592000 0.82676 2.861000 0.98227 0.655000 0.94253 GAT SHANK2-001 KNOWN basic protein_coding protein_coding OTTHUMT00000259184.1 - ENST00000409161.1 Missense_Mutation SNP PCPG-TCGA-WB-A80L-Normal-SM-5EMLU NGEF 25791 broad.mit.edu 37 2 233785226 233785226 + Missense_Mutation SNP G G A TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr2:233785226G>A ENST00000373552.4 - 3.0 474 c.320C>T c.(319-321)gCa>gTa p.A107V NGEF_ENST00000409079.1_Missense_Mutation_p.A107V|NGEF_ENST00000264051.3_Missense_Mutation_p.A199V NM_001114090.1 NP_001107562.1 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 199.0 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}. apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35.0 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) TTCTATTTCTGCATCCTGTTG 0.512 0 105.0 110.0 108.0 2 233785226.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ238899 CCDS2500.1, CCDS46544.1 2q37 2012-07-24 ENSG00000066248 ENSG00000066248 25791.0 25791.0 """Rho guanine nucleotide exchange factors""" 7807.0 protein-coding gene gene with protein product """ephexin""" 605991 10777665 Standard XM_044799 NM_019850 Approved ARHGEF27 uc002vts.2 Q8N5V2 OTTHUMG00000133272 ENST00000373552.4:c.320C>T 2.__UNKNOWN__:g.233785226G>A ENSP00000362653:p.Ala107Val B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6 __UNKNOWN__ CCDS46544.1 . . . . . . . . . . G 11.76 1.733430 0.30684 . . ENSG00000066248 ENST00000264051;ENST00000373552;ENST00000541023;ENST00000409079 T;T 0.72505 -0.5;-0.66 5.2 5.2 0.72013 . 0.290984 0.34603 N 0.003836 T 0.55986 0.1955 N 0.24115 0.695 0.80722 D 1 B;P;B 0.43477 0.113;0.808;0.294 B;B;B 0.37144 0.036;0.242;0.057 T 0.63721 -0.6573 10 0.62326 D 0.03 -4.0148 13.6606 0.62366 0.0:0.0:0.8452:0.1548 . 107;107;199 E9PC42;B4DMB8;Q8N5V2 .;.;NGEF_HUMAN V 199;107;89;107 ENSP00000264051:A199V;ENSP00000362653:A107V ENSP00000264051:A199V A - 2 0 NGEF 233493470 0.921000 0.31238 0.966000 0.40874 0.196000 0.23810 4.308000 0.59129 2.433000 0.82419 0.491000 0.48974 GCA NGEF-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000330263.2 - ENST00000373552.4 Missense_Mutation SNP PCPG-TCGA-WB-A80L-Normal-SM-5EMLU ASUN 55726 broad.mit.edu 37 12 27067050 27067050 + Silent SNP T T C TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr12:27067050T>C ENST00000261191.7 - 13.0 1967 c.1431A>G c.(1429-1431)ttA>ttG p.L477L ASUN_ENST00000539625.1_Silent_p.L376L NM_018164.2 NP_060634.2 Q9NVM9 ASUN_HUMAN asunder spermatogenesis regulator 477.0 centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317) cytoplasm (GO:0005737)|nucleus (GO:0005634) TAACACTGGCTAATGGAACTA 0.289 0 71.0 71.0 71.0 12 27067050.0 2203.0 4294.0 6497.0 SO:0001819 synonymous_variant AK001222 CCDS8708.1 12p12.3 2013-05-08 2013-05-08 2011-12-09 ENSG00000064102 ENSG00000064102 55726.0 55726.0 20174.0 protein-coding gene gene with protein product """spermatogenesis associated 30""" 615079 """chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)""" C12orf11 12414650, 19357193, 23097494 Standard NM_018164 NM_018164 Approved FLJ10637, NET48, Mat89Bb, SPATA30 uc001rhk.4 Q9NVM9 OTTHUMG00000169193 ENST00000261191.7:c.1431A>G 12.__UNKNOWN__:g.27067050T>C B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5 __UNKNOWN__ CCDS8708.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 8.057|8.057 0.767284|0.767284 0.15983|0.15983 .|. .|. ENSG00000064102|ENSG00000064102 ENST00000542392|ENST00000536232 .|. .|. .|. 5.37|5.37 4.22|4.22 0.49857|0.49857 .|. .|. .|. .|. .|. T|. 0.57607|. 0.2065|. .|. .|. .|. 0.80722|0.80722 D|D 1|1 .|. .|. .|. .|. .|. .|. T|. 0.53739|. -0.8396|. 4|. .|. .|. .|. -8.914|-8.914 7.6002|7.6002 0.28071|0.28071 0.0:0.0721:0.1401:0.7879|0.0:0.0721:0.1401:0.7879 .|. .|. .|. .|. G|W 191|130 .|. .|. S|X -|- 1|2 0|0 C12orf11|C12orf11 26958317|26958317 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.985000|0.985000 0.73830|0.73830 2.394000|2.394000 0.44450|0.44450 0.958000|0.958000 0.37956|0.37956 0.482000|0.482000 0.46254|0.46254 AGC|TAG ASUN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402819.1 - ENST00000261191.7 Silent SNP PCPG-TCGA-WB-A80L-Normal-SM-5EMLU Unknown 81194 bcgsc.ca 37 11 55783111 55783111 + RNA SNP G G A TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr11:55783111G>A OR5F1 (21010 upstream) : OR5AS1 (14783 downstream) TTCGGTTGTCGCCAGGGCGAT 0.483 0 SO:0001628 intergenic_variant 11.__UNKNOWN__:g.55783111G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-WB-A80L-Normal-SM-5EMLU IFIT3 3437 broad.mit.edu 37 10 91099316 91099316 + Missense_Mutation SNP G G A TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr10:91099316G>A ENST00000371818.4 + 2.0 1084 c.904G>A c.(904-906)Gga>Aga p.G302R LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.G302R|LIPA_ENST00000371837.1_Intron NM_001549.4 NP_001540.2 O14879 IFIT3_HUMAN interferon-induced protein with tetratricopeptide repeats 3 302.0 cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739) identical protein binding (GO:0042802) breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1) 15.0 TGAAGCTAGTGGAAATAAAGA 0.413 0 76.0 69.0 72.0 10 91099316.0 2203.0 4300.0 6503.0 SO:0001583 missense U52513 CCDS7402.1, CCDS31241.1 10q23.31 2014-05-22 2004-07-16 2004-07-16 ENSG00000119917 ENSG00000119917 3437.0 3437.0 """Tetratricopeptide (TTC) repeat domain containing""" 5411.0 protein-coding gene gene with protein product 604650 """interferon-induced protein with tetratricopeptide repeats 4""" IFIT4 9828129, 9391139 Standard NM_001549 NM_001031683 Approved ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2 uc001kgg.3 O14879 OTTHUMG00000018708 ENST00000371818.4:c.904G>A 10.__UNKNOWN__:g.91099316G>A ENSP00000360883:p.Gly302Arg Q99634|Q9BSK7 __UNKNOWN__ CCDS7402.1 . . . . . . . . . . G 10.00 1.233171 0.22626 . . ENSG00000119917 ENST00000371818;ENST00000371811;ENST00000543062 T;T 0.12879 2.64;2.64 4.06 0.994 0.19832 Tetratricopeptide-like helical (1); 1.203990 0.06292 N 0.699293 T 0.13372 0.0324 N 0.25201 0.72 0.09310 N 1 P 0.35944 0.529 P 0.46585 0.521 T 0.40496 -0.9560 10 0.33141 T 0.24 -1.0059 3.3622 0.07190 0.0854:0.2541:0.4014:0.2591 . 302 O14879 IFIT3_HUMAN R 302;302;123 ENSP00000360883:G302R;ENSP00000360876:G302R ENSP00000360876:G302R G + 1 0 IFIT3 91089296 0.000000 0.05858 0.000000 0.03702 0.027000 0.11550 -0.042000 0.12063 0.219000 0.20840 0.651000 0.88453 GGA IFIT3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049294.1 + ENST00000371818.4 Missense_Mutation SNP PCPG-TCGA-WB-A80M-Normal-SM-5EMNB REPS1 85021 broad.mit.edu 37 6 139266690 139266690 + Missense_Mutation SNP T T C TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr6:139266690T>C ENST00000258062.5 - 3.0 1000 c.422A>G c.(421-423)aAg>aGg p.K141R REPS1_ENST00000367663.4_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000450536.2_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R NM_031922.3 NP_114128.3 Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 141.0 receptor-mediated endocytosis (GO:0006898) coated pit (GO:0005905)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19.0 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) TACGGATCCCTTTTTCACTTG 0.478 0 196.0 180.0 186.0 6 139266690.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1 6q24.1 2013-01-10 ENSG00000135597 ENSG00000135597 85021.0 85021.0 """EF-hand domain containing""" 15578.0 protein-coding gene gene with protein product 614825 Standard XM_005267177 Approved uc011edr.2 Q96D71 OTTHUMG00000015685 ENST00000258062.5:c.422A>G 6.__UNKNOWN__:g.139266690T>C ENSP00000258062:p.Lys141Arg B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9 __UNKNOWN__ CCDS5193.2 . . . . . . . . . . T 19.61 3.859918 0.71834 . . ENSG00000135597 ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668 T;T;T;T;T;T 0.33216 1.43;1.43;1.43;1.42;1.42;1.43 5.63 5.63 0.86233 . 0.000000 0.85682 D 0.000000 T 0.29783 0.0744 L 0.40543 1.245 0.47441 D 0.999424 D;P;D;P 0.67145 0.996;0.59;0.995;0.455 P;B;P;B 0.60609 0.877;0.081;0.776;0.055 T 0.02909 -1.1095 10 0.25751 T 0.34 -11.9965 14.408 0.67096 0.0:0.0:0.0:1.0 . 141;141;141;141 Q96D71-3;Q96D71-2;Q96D71;E9PMG1 .;.;REPS1_HUMAN;. R 141;141;127;141;141;141;89 ENSP00000392065:K141R;ENSP00000356635:K141R;ENSP00000434251:K127R;ENSP00000386699:K141R;ENSP00000258062:K141R;ENSP00000397941:K141R ENSP00000258062:K141R K - 2 0 REPS1 139308383 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 6.421000 0.73353 2.145000 0.66743 0.454000 0.30748 AAG REPS1-003 KNOWN NAGNAG_splice_site|basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000042449.3 - ENST00000258062.5 Missense_Mutation SNP PCPG-TCGA-WB-A80M-Normal-SM-5EMNB PLCL1 5334 broad.mit.edu 37 2 198950399 198950399 + Missense_Mutation SNP C C T TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr2:198950399C>T ENST00000428675.1 + 2.0 2556 c.2158C>T c.(2158-2160)Cct>Tct p.P720S PLCL1_ENST00000437704.2_Missense_Mutation_p.P622S NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 720.0 C2. {ECO:0000255|PROSITE- ProRule:PRU00041}. gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871) 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) 80.0 Quinacrine(DB01103) TGGGGTGTCTCCTCTAGCTCT 0.448 0 76.0 78.0 77.0 2 198950399.0 2203.0 4300.0 6503.0 SO:0001583 missense D42108 CCDS2326.1, CCDS2326.2 2q33 2014-06-13 2002-02-18 2002-02-22 ENSG00000115896 ENSG00000115896 5334.0 5334.0 9063.0 protein-coding gene gene with protein product """phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127""" 600597 """phospholipase C, epsilon""" PLCE 7633416 Standard NM_006226 NM_006226 Approved PLC-L, PLCL, PRIP, PPP1R127 uc010fsp.3 Q15111 OTTHUMG00000132750 ENST00000428675.1:c.2158C>T 2.__UNKNOWN__:g.198950399C>T ENSP00000402861:p.Pro720Ser Q3MJ90|Q53SD3|Q7Z3S3 __UNKNOWN__ CCDS2326.2 . . . . . . . . . . C 18.45 3.626287 0.66901 . . ENSG00000115896 ENST00000428675;ENST00000437704 T;T 0.18810 2.19;2.21 5.36 5.36 0.76844 C2 membrane targeting protein (1);C2 calcium/lipid-binding domain, CaLB (1); 0.000000 0.64402 D 0.000006 T 0.43809 0.1264 L 0.59436 1.845 0.80722 D 1 D;D 0.76494 0.999;0.999 D;D 0.68621 0.959;0.959 T 0.06570 -1.0819 9 . . . . 19.2914 0.94102 0.0:1.0:0.0:0.0 . 720;646 Q15111;B4DYZ4 PLCL1_HUMAN;. S 720;622 ENSP00000402861:P720S;ENSP00000414138:P622S . P + 1 0 PLCL1 198658644 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 7.641000 0.83368 2.793000 0.96121 0.561000 0.74099 CCT PLCL1-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340210.1 + ENST00000428675.1 Missense_Mutation SNP PCPG-TCGA-WB-A80M-Normal-SM-5EMNB OMD 4958 broad.mit.edu 37 9 95179741 95179741 + Missense_Mutation SNP C C G TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr9:95179741C>G ENST00000375550.4 - 2.0 375 c.100G>C c.(100-102)Gag>Cag p.E34Q CENPP_ENST00000375587.3_Intron NM_005014.2 NP_005005.1 Q99983 OMD_HUMAN osteomodulin 34.0 carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2) 16.0 TCATCTGGCTCTTGGTCATAG 0.363 T USP6 aneurysmal bone cysts Dom yes 9 9q22.31 4958.0 osteomodulin M 0 106.0 94.0 98.0 9 95179741.0 2203.0 4300.0 6503.0 SO:0001583 missense AB000114 CCDS6696.1 9q22.31 2008-02-05 ENSG00000127083 ENSG00000127083 4958.0 4958.0 """Proteoglycans / Extracellular Matrix : Small leucine-rich repeats""" 8134.0 protein-coding gene gene with protein product """osteoadherin proteoglycan""" Standard NM_005014 NM_005014 Approved osteoadherin, SLRR2C uc004asd.4 Q99983 OTTHUMG00000020225 ENST00000375550.4:c.100G>C 9.__UNKNOWN__:g.95179741C>G ENSP00000364700:p.Glu34Gln Q5TBF4 __UNKNOWN__ CCDS6696.1 . . . . . . . . . . c 15.20 2.763749 0.49574 . . ENSG00000127083 ENST00000375550 T 0.39592 1.07 5.31 5.31 0.75309 . 0.234790 0.33875 N 0.004463 T 0.36936 0.0985 L 0.34521 1.04 0.35412 D 0.792521 B 0.20052 0.041 B 0.19666 0.026 T 0.35871 -0.9771 10 0.37606 T 0.19 -3.8309 18.9612 0.92678 0.0:1.0:0.0:0.0 . 34 Q99983 OMD_HUMAN Q 34 ENSP00000364700:E34Q ENSP00000364700:E34Q E - 1 0 OMD 94219562 0.996000 0.38824 0.988000 0.46212 0.941000 0.58515 3.255000 0.51484 2.650000 0.89964 0.585000 0.79938 GAG OMD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053090.1 - ENST00000375550.4 Missense_Mutation SNP PCPG-TCGA-WB-A80M-Normal-SM-5EMNB OR1J1 347168 broad.mit.edu 37 9 125239932 125239932 + Missense_Mutation SNP C C T TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr9:125239932C>T ENST00000259357.2 - 1.0 303 c.274G>A c.(274-276)Gtc>Atc p.V92I NM_001004451.1 NP_001004451.1 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, member 1 92.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16.0 TTGTAAAAGACGGCTAGGTGC 0.423 0 T ILE/VAL 1,4405 826.1+/-416.6 0,1,2202 143.0 122.0 129.0 274 3.3 0.0 9 129.0 0,8600 0,0,4300 no missense OR1J1 NM_001004451.1 29 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 benign 92/323 125239932.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AL353767 CCDS35120.1 9q33.2 2013-09-20 ENSG00000136834 ENSG00000136834 347168.0 347168.0 """GPCR / Class A : Olfactory receptors""" 8208.0 protein-coding gene gene with protein product Standard NM_001004451 Approved hg32 uc011lyu.2 Q8NGS3 OTTHUMG00000020603 ENST00000259357.2:c.274G>A 9.__UNKNOWN__:g.125239932C>T ENSP00000259357:p.Val92Ile A3KFL8|Q6IF10|Q96R88 __UNKNOWN__ CCDS35120.1 . . . . . . . . . . T 0.007 -1.999102 0.00435 2.27E-4 0.0 ENSG00000136834 ENST00000259357 T 0.00352 7.95 4.46 3.31 0.37934 GPCR, rhodopsin-like superfamily (1); 0.000000 0.64402 N 0.000016 T 0.00039 0.0001 N 0.00025 -2.685 0.22866 N 0.998639 B 0.02656 0.0 B 0.04013 0.001 T 0.40213 -0.9575 10 0.02654 T 1 . 8.4619 0.32934 0.0:0.167:0.0:0.833 . 92 Q8NGS3 OR1J1_HUMAN I 92 ENSP00000259357:V92I ENSP00000259357:V92I V - 1 0 OR1J1 124279753 0.956000 0.32656 0.021000 0.16686 0.004000 0.04260 2.039000 0.41193 0.339000 0.23719 -0.446000 0.05623 GTC OR1J1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053931.1 - ENST00000259357.2 Missense_Mutation SNP PCPG-TCGA-WB-A80M-Normal-SM-5EMNB ZDHHC24 254359 broad.mit.edu 37 11 66307235 66307235 + Missense_Mutation SNP G G A TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr11:66307235G>A ENST00000526986.1 - 2.0 791 ZDHHC24_ENST00000310442.3_Missense_Mutation_p.A207V Q6UX98 ZDH24_HUMAN zinc finger, DHHC-type containing 24 integral component of membrane (GO:0016021) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1) 7.0 GCACAGCAGCGCACCCGCCAC 0.647 0 25.0 28.0 27.0 11 66307235.0 2200.0 4293.0 6493.0 SO:0001627 intron_variant BC005015 CCDS8143.1 11q13.2 2008-05-02 ENSG00000174165 254359.0 254359.0 """Zinc fingers, DHHC-type""" 27387.0 protein-coding gene gene with protein product Standard NM_207340 NM_207340 Approved uc001oin.1 Q6UX98 ENST00000526986.1:c.559+3939C>T 11.__UNKNOWN__:g.66307235G>A Q6PEW7|Q9BSJ0 __UNKNOWN__ . . . . . . . . . . G 16.46 3.129272 0.56721 . . ENSG00000174165 ENST00000310442 T 0.22743 1.94 5.25 4.34 0.51931 . 0.253331 0.38897 N 0.001527 T 0.18087 0.0434 L 0.31420 0.93 0.23036 N 0.998394 D 0.56746 0.977 P 0.49047 0.599 T 0.07770 -1.0755 10 0.13853 T 0.58 -9.1857 9.5795 0.39479 0.0967:0.0:0.9033:0.0 . 207 Q6UX98 ZDH24_HUMAN V 207 ENSP00000309429:A207V ENSP00000309429:A207V A - 2 0 ZDHHC24 66063811 0.997000 0.39634 0.132000 0.22025 0.764000 0.43329 3.843000 0.55865 1.199000 0.43173 0.561000 0.74099 GCG ZDHHC24-003 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000393088.2 - ENST00000526986.1 Intron SNP PCPG-TCGA-WB-A80M-Normal-SM-5EMNB ZFYVE28 57732 broad.mit.edu 37 4 2306616 2306616 + Nonsense_Mutation SNP G G T TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr4:2306616G>T ENST00000290974.2 - 8.0 1790 c.1451C>A c.(1450-1452)tCg>tAg p.S484* ZFYVE28_ENST00000515312.1_Nonsense_Mutation_p.S414*|ZFYVE28_ENST00000511071.1_Nonsense_Mutation_p.S454*|RP11-478C1.7_ENST00000510632.1_RNA NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 484.0 negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175) cytosol (GO:0005829)|early endosome membrane (GO:0031901) metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266) NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31.0 GTGCAGCCGCGAGTCCAGGCA 0.662 0 39.0 41.0 40.0 4 2306616.0 2123.0 4160.0 6283.0 SO:0001587 stop_gained AK126692 CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1 4p16.3 2008-05-02 ENSG00000159733 ENSG00000159733 57732.0 57732.0 """Zinc fingers, FYVE domain containing""" 29334.0 protein-coding gene gene with protein product 614176 10997877 Standard XM_035371 NM_020972 Approved KIAA1643 uc003gex.2 Q9HCC9 OTTHUMG00000160292 ENST00000290974.2:c.1451C>A 4.__UNKNOWN__:g.2306616G>T ENSP00000290974:p.Ser484* B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3 __UNKNOWN__ CCDS33942.1 . . . . . . . . . . G 37 6.326430 0.97476 . . ENSG00000159733 ENST00000290974;ENST00000511071;ENST00000515312 . . . 4.4 3.53 0.40419 . 0.721171 0.13644 N 0.372798 . . . . . . 0.39274 D 0.964442 . . . . . . . . . . 0.02654 T 1 . 13.3809 0.60766 0.0:0.1592:0.8408:0.0 . . . . X 484;454;414 . ENSP00000290974:S484X S - 2 0 ZFYVE28 2276414 0.464000 0.25807 0.169000 0.22859 0.198000 0.23893 2.716000 0.47219 1.030000 0.39839 0.405000 0.27470 TCG ZFYVE28-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000360078.1 - ENST00000290974.2 Nonsense_Mutation SNP PCPG-TCGA-WB-A80M-Normal-SM-5EMNB CDC45 8318 broad.mit.edu 37 22 19471512 19471512 + Missense_Mutation SNP G G A TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr22:19471512G>A ENST00000407835.1 + 6.0 726 c.470G>A c.(469-471)cGc>cAc p.R157H CDC45_ENST00000404724.3_Missense_Mutation_p.R111H|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000437685.2_Missense_Mutation_p.R157H|CDC45_ENST00000263201.1_Missense_Mutation_p.R157H O75419 CDC45_HUMAN cell division cycle 45 157.0 DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19.0 TCTGAGAAGCGCACACGGTTA 0.532 0 115.0 100.0 105.0 22 19471512.0 2203.0 4300.0 6503.0 SO:0001583 missense AF053074 CCDS13762.1, CCDS54499.1, CCDS54500.1 22q11.21 2013-01-17 2013-01-17 2010-03-24 ENSG00000093009 ENSG00000093009 8318.0 8318.0 1739.0 protein-coding gene gene with protein product """human CDC45""" 603465 """CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)""" CDC45L2, CDC45L 9660782, 9724329, 17608804 Standard NM_003504 NM_001178010 Approved uc011aha.2 O75419 OTTHUMG00000150386 ENST00000407835.1:c.470G>A 22.__UNKNOWN__:g.19471512G>A ENSP00000385240:p.Arg157His B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68 __UNKNOWN__ CCDS13762.1 . . . . . . . . . . G 35 5.513468 0.96402 . . ENSG00000093009 ENST00000407835;ENST00000438587;ENST00000437685;ENST00000263201;ENST00000404724 T;T;T;T;T 0.25912 2.0;2.0;1.95;2.0;1.77 5.68 5.68 0.88126 . 0.054321 0.64402 D 0.000001 T 0.58595 0.2133 M 0.84846 2.72 0.80722 D 1 D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0 D;D;D;D;D 0.79108 0.99;0.992;0.99;0.99;0.99 T 0.63409 -0.6644 10 0.72032 D 0.01 -12.3749 19.7974 0.96491 0.0:0.0:1.0:0.0 . 157;152;111;157;157 E9PDH7;B4E092;B4DDB4;B4DDU3;O75419 .;.;.;.;CDC45_HUMAN H 157;145;157;157;111 ENSP00000385240:R157H;ENSP00000397434:R145H;ENSP00000405726:R157H;ENSP00000263201:R157H;ENSP00000384978:R111H ENSP00000263201:R157H R + 2 0 CDC45 17851512 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.420000 0.97426 2.673000 0.90976 0.650000 0.86243 CGC CDC45-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000317903.1 + ENST00000407835.1 Missense_Mutation SNP PCPG-TCGA-WB-A80M-Normal-SM-5EMNB WDFY3 23001 broad.mit.edu 37 4 85636525 85636525 + Silent SNP C C A TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr4:85636525C>A ENST00000295888.4 - 50.0 8294 c.7887G>T c.(7885-7887)gtG>gtT p.V2629V WDFY3_ENST00000322366.6_Silent_p.V2612V NM_014991.4 NP_055806.2 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2629.0 Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS. aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239) autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605) 1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872) 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) 134.0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AGAAAACTTCCACAGCAATAG 0.318 0 78.0 83.0 81.0 4 85636525.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB023210 CCDS3609.1 4q21.3 2013-01-09 ENSG00000163625 ENSG00000163625 23001.0 23001.0 """Zinc fingers, FYVE domain containing"", ""WD repeat domain containing""" 20751.0 protein-coding gene gene with protein product 10231032 Standard NM_014991 NM_014991 Approved KIAA0993, ALFY, ZFYVE25 uc003hpd.3 Q8IZQ1 OTTHUMG00000130424 ENST00000295888.4:c.7887G>T 4.__UNKNOWN__:g.85636525C>A Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7 __UNKNOWN__ CCDS3609.1 WDFY3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252811.2 - ENST00000295888.4 Silent SNP PCPG-TCGA-WB-A80M-Normal-SM-5EMNB POM121 9883 broad.mit.edu 37 7 72398976 72398976 + Missense_Mutation SNP A A G rs147859349 TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr7:72398976A>G ENST00000395270.1 + 7.0 1322 c.281A>G c.(280-282)aAt>aGt p.N94S POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 359.0 Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex. carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41.0 Lung NSC(55;0.163) CTGGTGGCCAATGGAGTCCCC 0.468 0 189.0 188.0 188.0 7 72398976.0 2203.0 4300.0 6503.0 SO:0001583 missense AB014518 CCDS5542.1, CCDS59059.1 7q11.23 2013-01-08 2012-03-13 ENSG00000196313 ENSG00000196313 9883.0 9883.0 """-""" 19702.0 protein-coding gene gene with protein product 615753 """POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein""" 8335683, 9734811, 17900573 Standard NM_172020 Approved KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A uc003twk.2 Q96HA1 OTTHUMG00000023527 ENST00000395270.1:c.281A>G 7.__UNKNOWN__:g.72398976A>G ENSP00000378687:p.Asn94Ser A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7 __UNKNOWN__ CCDS59059.1 . . . . . . . . . . G 12.65 2.002131 0.35320 . . ENSG00000196313 ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423 T;T;T;T;T 0.14266 2.52;2.52;2.52;2.52;2.52 3.99 3.99 0.46301 . 0.154071 0.30020 N 0.010614 T 0.13457 0.0326 L 0.57536 1.79 0.32153 N 0.584002 B;B 0.31193 0.312;0.006 B;B 0.26202 0.067;0.053 T 0.08066 -1.0740 10 0.30078 T 0.28 . 10.8045 0.46509 1.0:0.0:0.0:0.0 . 94;359 A8MXF9;Q96HA1 .;P121A_HUMAN S 94;94;94;94;359 ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S ENSP00000257622:N94S N + 2 0 POM121 72036912 1.000000 0.71417 1.000000 0.80357 0.786000 0.44442 5.143000 0.64826 1.663000 0.50791 0.373000 0.22412 AAT POM121-003 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000252020.1 + ENST00000395270.1 Missense_Mutation SNP PCPG-TCGA-WB-A80M-Normal-SM-5EMNB MRI1 84245 broad.mit.edu 37 19 13879776 13879776 + Missense_Mutation SNP G G A TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr19:13879776G>A ENST00000040663.6 + 5.0 903 c.863G>A c.(862-864)cGt>cAt p.R288H MRI1_ENST00000319545.8_Missense_Mutation_p.R241H NM_001031727.2 NP_001026897.1 methylthioribose-1-phosphate isomerase 1 breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6.0 TGTGACCTCCGTCTGGAGACC 0.592 0 G HIS/ARG,HIS/ARG 0,4406 0,0,2203 74.0 58.0 63.0 863,722 -3.9 0.0 19 63.0 1,8599 1.2+/-3.3 0,1,4299 yes missense,missense MRI1 NM_001031727.2,NM_032285.2 29,29 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 benign,benign 288/370,241/323 13879776.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense CCDS12297.1, CCDS32923.1 19p13.13 2013-05-29 2013-05-29 ENSG00000037757 84245.0 84245.0 5.3.1.23 28469.0 protein-coding gene gene with protein product """mediator of RhoA-dependent invasion"", ""S-methyl-5-thioribose-1-phosphate isomerase 1""" 615105 """methylthioribose-1-phosphate isomerase homolog (S. cerevisiae)""" 15215245, 19620624, 23124037 Standard NM_032285 XR_244089 Approved MGC3207, Ypr118w, mtnA, MRDI uc002mxe.3 Q9BV20 ENST00000040663.6:c.863G>A 19.__UNKNOWN__:g.13879776G>A ENSP00000040663:p.Arg288His __UNKNOWN__ CCDS32923.1 . . . . . . . . . . G 12.59 1.982829 0.34942 0.0 1.16E-4 ENSG00000037757 ENST00000040663;ENST00000319545 D;D 0.93247 -3.19;-3.19 5.38 -3.91 0.04168 . 0.290162 0.41097 N 0.000945 D 0.85035 0.5605 N 0.25647 0.755 0.20563 N 0.999887 B;B 0.25007 0.116;0.001 B;B 0.22880 0.042;0.001 T 0.71889 -0.4456 10 0.42905 T 0.14 -19.7313 10.9801 0.47488 0.4903:0.0:0.5097:0.0 . 241;288 Q9BV20-2;Q9BV20 .;MTNA_HUMAN H 288;241 ENSP00000040663:R288H;ENSP00000314871:R241H ENSP00000040663:R288H R + 2 0 MRI1 13740776 0.196000 0.23350 0.008000 0.14137 0.572000 0.35998 0.384000 0.20668 -0.873000 0.04032 -0.424000 0.05967 CGT MRI1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000453424.1 + ENST00000040663.6 Missense_Mutation SNP PCPG-TCGA-WB-A80M-Normal-SM-5EMNB CSDE1 7812 broad.mit.edu 37 1 115267956 115267956 + Splice_Site SNP T T A TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr1:115267956T>A ENST00000530886.1 - 13.0 1838 c.e13-2 CSDE1_ENST00000369530.1_Splice_Site|CSDE1_ENST00000358528.4_Splice_Site|CSDE1_ENST00000261443.5_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site|CSDE1_ENST00000438362.2_Splice_Site|CSDE1_ENST00000339438.6_Splice_Site O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355) CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51.0 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGAACTCACTAAGGAGAAAG 0.403 0 147.0 138.0 141.0 1 115267956.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1 1p13.2 2011-11-02 ENSG00000009307 ENSG00000009307 7812.0 7812.0 29905.0 protein-coding gene gene with protein product """upstream of NRAS""" 191510 2204029, 10048485 Standard NM_007158 NM_007158 Approved D1S155E, UNR uc001efi.3 O75534 OTTHUMG00000012060 ENST00000530886.1:c.1251-2A>T 1.__UNKNOWN__:g.115267956T>A A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4 __UNKNOWN__ . . . . . . . . . . T 22.9 4.350445 0.82132 . . ENSG00000009307 ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699 . . . 5.61 5.61 0.85477 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 15.8019 0.78458 0.0:0.0:0.0:1.0 . . . . . -1 . . . - . . CSDE1 115069479 1.000000 0.71417 0.923000 0.36655 0.970000 0.65996 7.320000 0.79064 2.133000 0.65898 0.455000 0.32223 . CSDE1-007 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000392607.1 Intron - ENST00000530886.1 Splice_Site SNP PCPG-TCGA-WB-A80M-Normal-SM-5EMNB CYP2U1 113612 broad.mit.edu 37 4 108866589 108866589 + Silent SNP A A T TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr4:108866589A>T ENST00000508453.1 + 4.0 1200 c.327A>T c.(325-327)atA>atT p.I109I RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000332884.6_Silent_p.I318I Q7Z449 CP2U1_HUMAN cytochrome P450, family 2, subfamily U, polypeptide 1 318.0 arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506) breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1) 10.0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) AGGACTTCATAGACATGTACC 0.348 0 66.0 66.0 66.0 4 108866589.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC012027 CCDS34047.1 4q25 2012-11-23 ENSG00000155016 ENSG00000155016 113612.0 113612.0 """Cytochrome P450s""" 20582.0 protein-coding gene gene with protein product """spastic paraplegia 49""" 610670 14975754, 14660610 Standard NM_183075 XM_005262717 Approved SPG49 uc003hyp.3 Q7Z449 OTTHUMG00000161084 ENST00000508453.1:c.327A>T 4.__UNKNOWN__:g.108866589A>T B2RMV7|Q96EQ6 __UNKNOWN__ CYP2U1-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000363693.1 + ENST00000508453.1 Silent SNP PCPG-TCGA-WB-A80M-Normal-SM-5EMNB TUBGCP6 85378 broad.mit.edu 37 22 50659143 50659143 + Silent SNP G G A rs143650291 TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr22:50659143G>A ENST00000248846.5 - 16.0 3749 c.3645C>T c.(3643-3645)caC>caT p.H1215H TUBGCP6_ENST00000439308.2_Silent_p.H1215H|TUBGCP6_ENST00000491449.1_5'UTR Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1215.0 9 X 27 AA tandem repeats. G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278) centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922) microtubule binding (GO:0008017) 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) 45.0 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) ACACATGTCCGTGGGTGTTCC 0.622 0 76.0 67.0 70.0 22 50659143.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB051456 CCDS14087.1 22q13.31-q13.33 2008-07-01 ENSG00000128159 ENSG00000128159 85378.0 85378.0 18127.0 protein-coding gene gene with protein product """gamma-tubulin complex component 6""" 610053 11694571, 11258795 Standard NM_020461 XR_244458 Approved GCP6, KIAA1669, DJ402G11.6 uc003bkb.1 Q96RT7 OTTHUMG00000030150 ENST00000248846.5:c.3645C>T 22.__UNKNOWN__:g.50659143G>A Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4 __UNKNOWN__ CCDS14087.1 TUBGCP6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000075004.3 - ENST00000248846.5 Silent SNP PCPG-TCGA-WB-A80M-Normal-SM-5EMNB GTF2A1 2957 broad.mit.edu 37 14 81646632 81646643 + In_Frame_Del DEL CATCCTTGAGAT CATCCTTGAGAT - TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr14:81646632_81646643delCATCCTTGAGAT ENST00000553612.1 - 9.0 1458_1469 c.1055_1066delATCTCAAGGATG c.(1054-1068)catctcaaggatggc>cgc p.352_356HLKDG>R GTF2A1_ENST00000434192.2_In_Frame_Del_p.313_317HLKDG>R NM_001278940.1|NM_015859.3 NP_001265869.1|NP_056943.1 P52655 TF2AA_HUMAN general transcription factor IIA, 1, 19/37kDa 352.0 gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672) DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 12.0 BRCA - Breast invasive adenocarcinoma(234;0.0287) TTCATAATGCCATCCTTGAGATGAAATTTCCA 0.274 0 SO:0001651 inframe_deletion X75383 CCDS9873.1, CCDS9874.1 14q31 2010-03-23 2002-08-29 2957.0 2957.0 """General transcription factors""" 4646.0 protein-coding gene gene with protein product 600520 """glucose regulated protein, 58kD pseudogene""" 8224848 Standard NM_015859 NM_015859 Approved TFIIA uc001xvf.2 P52655 ENST00000553612.1:c.1055_1066delATCTCAAGGATG 14.__UNKNOWN__:g.81646632_81646643delCATCCTTGAGAT ENSP00000452454:p.His352_Gly356delinsArg Q3KNQ9 __UNKNOWN__ CCDS9873.1 GTF2A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000413309.1 - ENST00000553612.1 In_Frame_Del DEL PCPG-TCGA-WB-A80M-Normal-SM-5EMNB VIT 5212 bcgsc.ca 37 2 37032679 37032679 + Missense_Mutation SNP C C T TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr2:37032679C>T ENST00000404084.1 + 11.0 1238 c.1072C>T c.(1072-1074)Ccc>Tcc p.P358S VIT_ENST00000497382.1_Missense_Mutation_p.P75S|VIT_ENST00000379241.3_Missense_Mutation_p.P384S|VIT_ENST00000389975.3_Missense_Mutation_p.P406S|VIT_ENST00000401530.1_Missense_Mutation_p.P385S|VIT_ENST00000379242.3_Missense_Mutation_p.P421S Q6UXI7 VITRN_HUMAN vitrin 406.0 VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}. extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811) interstitial matrix (GO:0005614) glycosaminoglycan binding (GO:0005539) autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57.0 all_hematologic(82;0.248) GGATGGCTGGCCCACGGACAA 0.502 0 102.0 94.0 96.0 2 37032679.0 2203.0 4300.0 6503.0 SO:0001583 missense AF063833 CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1 2p22.2 2008-05-15 ENSG00000205221 ENSG00000205221 5212.0 5212.0 12697.0 protein-coding gene gene with protein product Standard NM_001177969 Approved uc002rpl.3 Q6UXI7 OTTHUMG00000152149 ENST00000404084.1:c.1072C>T 2.__UNKNOWN__:g.37032679C>T ENSP00000384154:p.Pro358Ser A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0 __UNKNOWN__ . . . . . . . . . . C 19.40 3.820273 0.71028 . . ENSG00000205221 ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530 T;T;T;T;T;T 0.80994 -1.44;-1.44;-1.44;-1.44;-1.44;-1.44 5.49 5.49 0.81192 von Willebrand factor, type A (3); 0.111999 0.64402 D 0.000008 T 0.81069 0.4746 N 0.19112 0.55 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;0.996 D;D;D;D 0.97110 1.0;0.999;1.0;0.985 T 0.73569 -0.3941 10 0.02654 T 1 -23.8963 19.3832 0.94545 0.0:1.0:0.0:0.0 . 385;384;406;421 E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4 .;.;VITRN_HUMAN;. S 421;406;75;358;384;385 ENSP00000368544:P421S;ENSP00000374625:P406S;ENSP00000417874:P75S;ENSP00000384154:P358S;ENSP00000368543:P384S;ENSP00000385658:P385S ENSP00000368543:P384S P + 1 0 VIT 36886183 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 7.786000 0.85741 2.569000 0.86673 0.650000 0.86243 CCC VIT-003 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000325453.1 + ENST00000404084.1 Missense_Mutation SNP PCPG-TCGA-WB-A80M-Normal-SM-5EMNB ABCG8 64241 ucsc.edu 37 2 44079883 44079883 + Silent SNP T T C TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr2:44079883T>C ENST00000272286.2 + 6.0 930 c.840T>C c.(838-840)ttT>ttC p.F280F NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 280.0 ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}. ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248) 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) 45.0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Ezetimibe(DB00973) TCAGGCTGTTTGATCTGGTCC 0.597 0 91.0 81.0 84.0 2 44079883.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF320294 CCDS1815.1 2p21 2012-03-14 2008-07-31 ENSG00000143921 ENSG00000143921 64241.0 64241.0 """ATP binding cassette transporters / subfamily G""" 13887.0 protein-coding gene gene with protein product """gallbladder disease 4"", ""sterolin 2""" 605460 """ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)""" 11099417, 17626266 Standard NM_022437 NM_022437 Approved GBD4 uc002rtq.3 Q9H221 OTTHUMG00000128756 ENST00000272286.2:c.840T>C 2.__UNKNOWN__:g.44079883T>C Q53QN8 __UNKNOWN__ CCDS1815.1 ABCG8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250671.1 + ENST00000272286.2 Silent SNP PCPG-TCGA-WB-A80M-Normal-SM-5EMNB EEFSEC 60678 ucsc.edu 37 3 128127075 128127075 + Silent SNP C C A TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr3:128127075C>A ENST00000254730.6 + 7.0 1818 c.1764C>A c.(1762-1764)acC>acA p.T588T EEFSEC_ENST00000483457.1_3'UTR NM_021937.3 NP_068756.2 P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific 588.0 selenocysteine incorporation (GO:0001514) mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049) NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25.0 TCTTCGACACCCACAAGCGCA 0.642 0 145.0 119.0 128.0 3 128127075.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS33849.1 3q21.3 2007-05-25 ENSG00000132394 ENSG00000132394 60678.0 60678.0 24614.0 protein-coding gene gene with protein product """elongation factor for selenoprotein translation""" 607695 10970870, 15229221 Standard NM_021937 XM_005247696 Approved SELB, EFSEC uc003eki.3 P57772 OTTHUMG00000159659 ENST00000254730.6:c.1764C>A 3.__UNKNOWN__:g.128127075C>A Q96HZ6 __UNKNOWN__ CCDS33849.1 EEFSEC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356738.2 + ENST00000254730.6 Silent SNP PCPG-TCGA-WB-A80M-Normal-SM-5EMNB SIGLEC6 946 broad.mit.edu 37 19 52033997 52033997 + Missense_Mutation SNP C C G TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr19:52033997C>G ENST00000425629.3 - 3.0 798 c.644G>C c.(643-645)tGt>tCt p.C215S SIGLEC6_ENST00000346477.3_Missense_Mutation_p.C215S|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.C179S|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.C204S|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.C215S|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.C215S NM_001245.5 NP_001236.4 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 215.0 Ig-like C2-type 1. cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) carbohydrate binding (GO:0030246) endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28.0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CGTCACCTGACAGGTGAGGTT 0.652 0 61.0 68.0 66.0 19 52033997.0 2202.0 4300.0 6502.0 SO:0001583 missense D86358 CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1 19q13.3 2013-01-29 ENSG00000105492 ENSG00000105492 946.0 946.0 """Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 10875.0 protein-coding gene gene with protein product 604405 CD33L, CD33L1 9465907 Standard NM_001245 NM_001245 Approved OB-BP1, SIGLEC-6, CD327 uc002pwy.3 O43699 OTTHUMG00000133571 ENST00000425629.3:c.644G>C 19.__UNKNOWN__:g.52033997C>G ENSP00000401502:p.Cys215Ser A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700 __UNKNOWN__ CCDS12834.3 . . . . . . . . . . C 13.51 2.258855 0.39896 . . ENSG00000105492 ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300 T;T;T;T 0.79749 -1.3;-1.3;-1.3;-1.3 3.47 3.47 0.39725 Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1); 0.000000 0.40469 N 0.001088 D 0.90335 0.6976 M 0.91561 3.22 0.37284 D 0.907947 D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D 0.97110 1.0;1.0;1.0;1.0;1.0;1.0 D 0.92822 0.6273 10 0.87932 D 0 . 10.6184 0.45465 0.0:1.0:0.0:0.0 . 215;179;204;215;215;215 F8WA78;C9JBE5;O43699-4;O43699-2;O43699-3;O43699 .;.;.;.;.;SIGL6_HUMAN S 204;215;215;215;179;215 ENSP00000401502:C215S;ENSP00000353071:C215S;ENSP00000410679:C179S;ENSP00000345907:C215S ENSP00000345907:C215S C - 2 0 SIGLEC6 56725809 0.961000 0.32948 0.718000 0.30602 0.234000 0.25298 2.685000 0.46959 1.945000 0.56424 0.462000 0.41574 TGT SIGLEC6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000257670.3 - ENST00000425629.3 Missense_Mutation SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 DCLK1 9201 broad.mit.edu 37 13 36385001 36385001 + Silent SNP G G A rs144489471 byFrequency TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr13:36385001G>A ENST00000255448.4 - 12.0 1870 c.1659C>T c.(1657-1659)taC>taT p.Y553Y DCLK1_ENST00000379893.1_Silent_p.Y246Y|DCLK1_ENST00000360631.3_Silent_p.Y553Y NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 553.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615) integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057) 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) 64.0 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) CTGGAGCCACGTATGTTGGGG 0.478 G 2.0 0.0009 2184.0 0.0035 1.0 , , 0.0003 0.0009 0.9756 LOWCOV,EXOME 0.0004 SNP 0 G ,, 0,4406 0,0,2203 178.0 176.0 177.0 738,738,1659 -6.4 0.2 13 dbSNP_134 177.0 2,8598 2.2+/-6.3 0,2,4298 no coding-synonymous,coding-synonymous,coding-synonymous DCLK1 NM_001195415.1,NM_001195416.1,NM_004734.4 ,, 0,2,6501 AA,AG,GG 0.0233,0.0,0.0154 ,, 246/423,246/434,553/730 36385001.0 2,13004 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB002367 CCDS9354.1, CCDS55895.1, CCDS73561.1 13q13.3 2008-02-05 2007-04-02 2007-04-02 ENSG00000133083 ENSG00000133083 9201.0 9201.0 2700.0 protein-coding gene gene with protein product 604742 """doublecortin and CaM kinase-like 1""" DCAMKL1 9747029, 10036192 Standard NM_004734 NM_004734 Approved KIAA0369, DCLK, DCDC3A uc001uvf.3 O15075 OTTHUMG00000016729 ENST00000255448.4:c.1659C>T 13.__UNKNOWN__:g.36385001G>A B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1 __UNKNOWN__ CCDS9354.1 DCLK1-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044483.1 - ENST00000255448.4 Silent SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 TTC9C 283237 broad.mit.edu 37 11 62502998 62502998 + Missense_Mutation SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr11:62502998G>A ENST00000316461.4 + 2.0 693 c.383G>A c.(382-384)cGc>cAc p.R128H TTC9C_ENST00000513247.2_3'UTR|TTC9C_ENST00000532583.1_Missense_Mutation_p.R128H NM_173810.3 NP_776171.1 Q8N5M4 TTC9C_HUMAN tetratricopeptide repeat domain 9C 128.0 breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1) 6.0 GACCAGGCCCGCCACTACCTC 0.512 0 36.0 34.0 35.0 11 62502998.0 2202.0 4298.0 6500.0 SO:0001583 missense BC032123 CCDS8033.1 11q12.3 2013-01-10 ENSG00000162222 ENSG00000162222 283237.0 283237.0 """Tetratricopeptide (TTC) repeat domain containing""" 28432.0 protein-coding gene gene with protein product Standard NM_173810 NM_173810 Approved MGC29649 uc001nuy.3 Q8N5M4 OTTHUMG00000167607 ENST00000316461.4:c.383G>A 11.__UNKNOWN__:g.62502998G>A ENSP00000325266:p.Arg128His Q8WYY7 __UNKNOWN__ CCDS8033.1 . . . . . . . . . . G 11.19 1.566967 0.28003 . . ENSG00000162222 ENST00000530625;ENST00000316461;ENST00000532583;ENST00000532276 D;D;D;D 0.89196 -2.48;-2.48;-2.48;-2.48 6.04 3.05 0.35203 Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1); . . . . D 0.82472 0.5044 L 0.45137 1.4 0.46336 D 0.998998 B 0.02656 0.0 B 0.01281 0.0 T 0.73040 -0.4108 9 0.37606 T 0.19 . 7.4153 0.27040 0.3651:0.0:0.6349:0.0 . 128 Q8N5M4 TTC9C_HUMAN H 128;128;128;26 ENSP00000435282:R128H;ENSP00000325266:R128H;ENSP00000434340:R128H;ENSP00000434137:R26H ENSP00000325266:R128H R + 2 0 TTC9C 62259574 0.305000 0.24481 0.964000 0.40570 0.605000 0.37080 0.281000 0.18810 0.372000 0.24591 0.563000 0.77884 CGC TTC9C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395338.1 + ENST00000316461.4 Missense_Mutation SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 ERCC3 2071 broad.mit.edu 37 2 128050376 128050376 + Missense_Mutation SNP T T C TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr2:128050376T>C ENST00000285398.2 - 3.0 375 c.281A>G c.(280-282)aAa>aGa p.K94R ERCC3_ENST00000493187.2_Missense_Mutation_p.K30R NM_000122.1 NP_000113.1 P19447 ERCC3_HUMAN excision repair cross-complementation group 3 94.0 7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032) holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) 3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31.0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TTGGGCATATTTGTAAACTGG 0.473 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum yes Rec Xeroderma pigmentosum (B) 2 2q21 2071.0 """excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)""" E 0 77.0 73.0 74.0 2 128050376.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV M31899 CCDS2144.1 2q21 2014-09-17 2014-03-07 ENSG00000163161 ENSG00000163161 2071.0 2071.0 """General transcription factors"", ""General transcription factor IIH complex subunits""" 3435.0 protein-coding gene gene with protein product """xeroderma pigmentosum group B complementing""" 133510 """excision repair cross-complementing rodent repair deficiency, complementation group 3""" 8202161 Standard NM_000122 NM_000122 Approved XPB, BTF2, RAD25, TFIIH, GTF2H uc002toh.1 P19447 OTTHUMG00000131530 ENST00000285398.2:c.281A>G 2.__UNKNOWN__:g.128050376T>C ENSP00000285398:p.Lys94Arg Q53QM0 __UNKNOWN__ CCDS2144.1 . . . . . . . . . . T 15.50 2.850666 0.51270 . . ENSG00000163161 ENST00000285398;ENST00000493187 T;T 0.72394 -0.65;-0.65 4.77 3.61 0.41365 . 0.051485 0.85682 N 0.000000 T 0.69296 0.3095 M 0.73962 2.25 0.80722 D 1 B 0.09022 0.002 B 0.23852 0.049 T 0.66260 -0.5968 10 0.48119 T 0.1 -16.4107 10.443 0.44477 0.0:0.0769:0.0:0.9231 . 94 P19447 ERCC3_HUMAN R 94;30 ENSP00000285398:K94R;ENSP00000444796:K30R ENSP00000285398:K94R K - 2 0 ERCC3 127766846 1.000000 0.71417 1.000000 0.80357 0.918000 0.54935 5.028000 0.64115 0.846000 0.35142 -0.297000 0.09499 AAA ERCC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000331028.1 - ENST00000285398.2 Missense_Mutation SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 MUC17 140453 broad.mit.edu 37 7 100683180 100683180 + Missense_Mutation SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr7:100683180G>A ENST00000306151.4 + 3.0 8547 c.8483G>A c.(8482-8484)gGc>gAc p.G2828D NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2828.0 59 X approximate tandem repeats.|Ser-rich. cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) 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) 343.0 Lung NSC(181;0.136)|all_lung(186;0.182) TCTGAGGCTGGCACCCTTTCA 0.498 0 242.0 250.0 247.0 7 100683180.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453.0 140453.0 """Mucins""" 16800.0 protein-coding gene gene with protein product 608424 11855812 Standard NM_001040105 NM_001040105 Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.8483G>A 7.__UNKNOWN__:g.100683180G>A ENSP00000302716:p.Gly2828Asp O14761|Q685J2|Q8TDH7 __UNKNOWN__ CCDS34711.1 . . . . . . . . . . G 5.098 0.203649 0.09704 . . ENSG00000169876 ENST00000306151 T 0.03580 3.88 0.911 -0.0885 0.13673 . . . . . T 0.05593 0.0147 N 0.19112 0.55 0.09310 N 1 D 0.76494 0.999 D 0.68621 0.959 T 0.42515 -0.9447 9 0.27082 T 0.32 . 3.9399 0.09323 0.4823:0.0:0.5177:0.0 . 2828 Q685J3 MUC17_HUMAN D 2828 ENSP00000302716:G2828D ENSP00000302716:G2828D G + 2 0 MUC17 100469900 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -0.278000 0.08490 -0.037000 0.13646 0.134000 0.15878 GGC MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347161.1 + ENST00000306151.4 Missense_Mutation SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 AHNAK2 113146 broad.mit.edu 37 14 105416378 105416378 + Missense_Mutation SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr14:105416378G>A ENST00000557457.1 - 1.0 24 AHNAK2_ENST00000333244.5_Missense_Mutation_p.R1804W Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33.0 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) CCCTCCAGCCGCACACTGTCC 0.622 0 G TRP/ARG 1,4013 0,1,2006 146.0 174.0 165.0 5410 -4.1 0.0 14 165.0 0,8296 0,0,4148 no missense AHNAK2 NM_138420.2 101 0,1,6154 AA,AG,GG 0.0,0.0249,0.0081 probably-damaging 1804/5796 105416378.0 1,12309 2007.0 4148.0 6155.0 SO:0001627 intron_variant AB095939 CCDS45177.1 14q32.33 2010-04-01 2007-03-26 2007-03-26 ENSG00000185567 ENSG00000185567 113146.0 113146.0 20125.0 protein-coding gene gene with protein product 608570 """chromosome 14 open reading frame 78""" C14orf78 15007166 Standard NM_138420 NM_138420 Approved uc010axc.1 Q8IVF2 ENST00000557457.1:c.219+3839C>T 14.__UNKNOWN__:g.105416378G>A Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9 __UNKNOWN__ . . . . . . . . . . g 12.97 2.097490 0.37048 2.49E-4 0.0 ENSG00000185567 ENST00000333244 T 0.00737 5.76 2.02 -4.05 0.03998 . . . . . T 0.00637 0.0021 L 0.44542 1.39 0.09310 N 1 D 0.54772 0.968 B 0.33042 0.157 T 0.50372 -0.8836 9 0.66056 D 0.02 . 6.3633 0.21441 0.0:0.0:0.544:0.456 . 1804 Q8IVF2 AHNK2_HUMAN W 1804 ENSP00000353114:R1804W ENSP00000353114:R1804W R - 1 2 AHNAK2 104487423 . . 0.000000 0.03702 0.001000 0.01503 . . -0.288000 0.09051 0.456000 0.33151 CGG AHNAK2-003 PUTATIVE basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000410299.1 - ENST00000557457.1 Intron SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 ZNF311 282890 broad.mit.edu 37 6 28963545 28963545 + Missense_Mutation SNP C C T TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr6:28963545C>T ENST00000377179.3 - 7.0 1746 c.1234G>A c.(1234-1236)Gaa>Aaa p.E412K ZNF311_ENST00000483450.1_5'UTR NM_001010877.2 NP_001010877.2 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 412.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28.0 TAAGGTCGTTCCCCAGTGTGG 0.512 0 87.0 82.0 84.0 6 28963545.0 1510.0 2709.0 4219.0 SO:0001583 missense AL833166 CCDS34357.1 6p21.33 2013-01-08 ENSG00000197935 ENSG00000197935 282890.0 282890.0 """Zinc fingers, C2H2-type"", ""-""" 13847.0 protein-coding gene gene with protein product Standard XM_212581 XM_006715067 Approved uc003nlu.2 Q5JNZ3 OTTHUMG00000031292 ENST00000377179.3:c.1234G>A 6.__UNKNOWN__:g.28963545C>T ENSP00000366384:p.Glu412Lys A2BFK5|B0S7Y4|Q92971 __UNKNOWN__ CCDS34357.1 . . . . . . . . . . C 21.2 4.109059 0.77096 . . ENSG00000197935 ENST00000377179;ENST00000535083 T 0.24350 1.86 3.57 3.57 0.40892 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.28300 0.0699 L 0.33668 1.02 0.39140 D 0.962017 D 0.89917 1.0 D 0.91635 0.999 T 0.06588 -1.0818 9 0.54805 T 0.06 -16.3737 13.4785 0.61322 0.0:1.0:0.0:0.0 . 412 Q5JNZ3 ZN311_HUMAN K 412;320 ENSP00000366384:E412K ENSP00000366384:E412K E - 1 0 ZNF311 29071524 1.000000 0.71417 0.698000 0.30274 0.589000 0.36550 4.812000 0.62613 1.928000 0.55862 0.585000 0.79938 GAA ZNF311-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076631.3 - ENST00000377179.3 Missense_Mutation SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 FOXP1 27086 broad.mit.edu 37 3 71096155 71096155 + Missense_Mutation SNP C C T TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr3:71096155C>T ENST00000493089.1 - 10.0 1230 c.602G>A c.(601-603)cGc>cAc p.R201H FOXP1_ENST00000468577.1_Missense_Mutation_p.R201H|FOXP1_ENST00000491238.1_Missense_Mutation_p.R203H|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000475937.1_Missense_Mutation_p.R201H|FOXP1_ENST00000318789.4_Missense_Mutation_p.R201H|FOXP1_ENST00000498215.1_Missense_Mutation_p.R201H|FOXP1_ENST00000484350.1_Missense_Mutation_p.R125H NM_001244808.1 NP_001231737.1 Q9H334 FOXP1_HUMAN forkhead box P1 201.0 Gln-rich. negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) 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) 31.0 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) AAGGCCTTGGCGCTGCAAAGA 0.527 T PAX5 ALL Dom yes 3 3p14.1 27086.0 forkhead box P1 L 0 144.0 145.0 144.0 3 71096155.0 2203.0 4300.0 6503.0 SO:0001583 missense AF146696 CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1 3p14.1 2008-07-18 ENSG00000114861 ENSG00000114861 27086.0 27086.0 """Forkhead boxes""" 3823.0 protein-coding gene gene with protein product """fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein""" 605515 8265594, 11751404 Standard NM_032682 NM_032682 Approved QRF1, 12CC4, HSPC215, hFKH1B uc003doj.3 Q9H334 OTTHUMG00000158803 ENST00000493089.1:c.602G>A 3.__UNKNOWN__:g.71096155C>T ENSP00000418524:p.Arg201His A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1 __UNKNOWN__ CCDS58839.1 . . . . . . . . . . C 34 5.384614 0.95967 . . ENSG00000114861 ENST00000318789;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000485326;ENST00000497553 T;T;T;T;T;T;T;T;T;T 0.44482 1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;0.92 6.03 6.03 0.97812 . 0.236203 0.49916 D 0.000132 T 0.66674 0.2813 M 0.69823 2.125 0.80722 D 1 D;D;D;D 0.76494 0.999;0.999;0.998;0.998 D;D;D;D 0.77004 0.989;0.984;0.964;0.964 T 0.64364 -0.6425 10 0.52906 T 0.07 . 20.5666 0.99351 0.0:1.0:0.0:0.0 . 200;201;125;201 A3KMG1;G5E9V8;Q8NAN6;Q9H334 .;.;.;FOXP1_HUMAN H 201;101;201;201;97;203;201;201;125;201;101;101 ENSP00000318902:R201H;ENSP00000419393:R201H;ENSP00000418225:R97H;ENSP00000420736:R203H;ENSP00000418524:R201H;ENSP00000418102:R201H;ENSP00000417857:R125H;ENSP00000418883:R201H;ENSP00000417941:R101H;ENSP00000418784:R101H ENSP00000318902:R201H R - 2 0 FOXP1 71178845 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.057000 0.76669 2.854000 0.98071 0.655000 0.94253 CGC FOXP1-002 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000352251.1 - ENST00000493089.1 Missense_Mutation SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 NT5C3A 51251 broad.mit.edu 37 7 33057052 33057052 + Missense_Mutation SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr7:33057052G>A ENST00000610140.1 - 7.0 765 c.692C>T c.(691-693)aCt>aTt p.T231I NT5C3A_ENST00000396152.2_Splice_Site_p.T197I|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000409787.1_Missense_Mutation_p.T197I|NT5C3A_ENST00000242210.7_Splice_Site_p.T236I|NT5C3A_ENST00000409467.1_Splice_Site_p.T185I|NT5C3A_ENST00000405342.1_Splice_Site_p.T197I|NT5C3A_ENST00000381626.2_Splice_Site_p.T185I Q9H0P0 5NT3A_HUMAN 5'-nucleotidase, cytosolic IIIA 236.0 dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783) 2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166) TATTCTTACAGTTTCATCAAA 0.294 0 54.0 52.0 53.0 7 33057052.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AF312735 CCDS34616.1, CCDS34617.1, CCDS55101.1 7p14.3 2013-03-06 2013-03-06 2013-03-06 ENSG00000122643 ENSG00000122643 51251.0 51251.0 3.1.3.5 17820.0 protein-coding gene gene with protein product """lupin""" 606224 """5'-nucleotidase, cytosolic III""" NT5C3 11042152, 10942414 Standard NM_016489 NM_001002010 Approved UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1 uc003tdk.4 Q9H0P0 OTTHUMG00000152983 ENST00000610140.1:c.693+1C>T 7.__UNKNOWN__:g.33057052G>A A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45 __UNKNOWN__ . . . . . . . . . . G 12.72 2.021096 0.35701 . . ENSG00000122643 ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467;ENST00000409787 D;D;D;D;D;D 0.83837 -1.77;-1.77;-1.77;-1.77;-1.77;-1.77 5.15 4.0 0.46444 HAD-like domain (2); 0.099979 0.64402 D 0.000003 T 0.78483 0.4290 L 0.29908 0.895 0.09310 N 0.999993 P;B 0.43477 0.808;0.268 P;B 0.46362 0.514;0.103 T 0.71189 -0.4666 10 0.72032 D 0.01 . 12.0457 0.53479 0.0:0.0:0.1513:0.8487 . 236;197 Q9H0P0;Q9H0P0-1 5NT3_HUMAN;. I 185;197;236;197;185;197 ENSP00000371039:T185I;ENSP00000379456:T197I;ENSP00000242210:T236I;ENSP00000385261:T197I;ENSP00000387166:T185I;ENSP00000387205:T197I ENSP00000242210:T236I T - 2 0 NT5C3 33023577 0.247000 0.23920 0.996000 0.52242 0.928000 0.56348 0.794000 0.26958 0.812000 0.34326 -0.262000 0.10625 ACT NT5C3A-011 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000473102.1 Missense_Mutation - ENST00000610140.1 Splice_Site SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 IGKV1D-16 0 broad.mit.edu 37 2 90139477 90139477 + RNA SNP G G A rs2848291 by1000genomes TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr2:90139477G>A ENST00000492446.1 + 0.0 275 immunoglobulin kappa variable 1D-16 GTCCCATCAAGGTTCAGCGGC 0.483 0 95.0 98.0 97.0 2 90139477.0 1847.0 4084.0 5931.0 K01323 2p11.2 2012-02-08 ENSG00000241244 ENSG00000241244 28901.0 28901.0 """Immunoglobulins / IGK locus""" 5748.0 other immunoglobulin gene Standard NG_000833 NG_000833 Approved OTTHUMG00000151569 ENST00000492446.1: 2.__UNKNOWN__:g.90139477G>A __UNKNOWN__ IGKV1D-16-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene IG_V_gene OTTHUMT00000323144.2 + ENST00000492446.1 RNA SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 FAM175B 23172 broad.mit.edu 37 10 126523309 126523309 + Silent SNP T T C TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr10:126523309T>C ENST00000298492.5 + 9.0 1062 c.1017T>C c.(1015-1017)tcT>tcC p.S339S NM_032182.3 NP_115558.3 Q15018 F175B_HUMAN family with sequence similarity 175, member B 339.0 cellular response to freezing (GO:0071497) BRISC complex (GO:0070552)|cytoplasm (GO:0005737) polyubiquitin binding (GO:0031593) NS(1) 1.0 CTGTGGGCTCTTCCAATTATG 0.512 0 98.0 88.0 92.0 10 126523309.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D63877 CCDS31308.2 10q26.2 2013-01-24 2008-07-02 2008-07-02 ENSG00000165660 ENSG00000165660 23172.0 23172.0 28975.0 protein-coding gene gene with protein product """Abraxas brother""" 611144 """KIAA0157""" KIAA0157 8590280 Standard NM_032182 NM_032182 Approved Em:AC068896.4, ABRO1 uc001lib.4 Q15018 OTTHUMG00000019218 ENST00000298492.5:c.1017T>C 10.__UNKNOWN__:g.126523309T>C B4DKR2|Q96H11 __UNKNOWN__ CCDS31308.2 FAM175B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050891.2 + ENST00000298492.5 Silent SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 IL21 59067 broad.mit.edu 37 4 123542015 123542015 + Missense_Mutation SNP T T G TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr4:123542015T>G ENST00000264497.3 - 1.0 209 c.152A>C c.(151-153)aAt>aCt p.N51T IL21-AS1_ENST00000417927.1_RNA NM_001207006.2|NM_021803.3 NP_001193935.1|NP_068575.1 Q9HBE4 IL21_HUMAN interleukin 21 44.0 cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165) extracellular space (GO:0005615) cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134) NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3) 8.0 ATTCACATAATTTTTCAGCTG 0.338 0 106.0 105.0 105.0 4 123542015.0 2203.0 4300.0 6503.0 SO:0001583 missense AF254069 CCDS3727.1, CCDS75189.1 4q26-q27 2011-07-15 ENSG00000138684 ENSG00000138684 59067.0 59067.0 """Interleukins and interleukin receptors""" 6005.0 protein-coding gene gene with protein product 605384 11081504, 17947662 Standard NM_021803 NM_001207006 Approved Za11, IL-21 uc003ies.3 Q9HBE4 OTTHUMG00000133073 ENST00000264497.3:c.152A>C 4.__UNKNOWN__:g.123542015T>G ENSP00000264497:p.Asn51Thr A5J0L4 __UNKNOWN__ CCDS3727.1 . . . . . . . . . . T 9.370 1.070280 0.20147 . . ENSG00000138684 ENST00000264497 . . . 5.63 -0.0293 0.13918 . 0.576020 0.16688 N 0.203643 T 0.27765 0.0683 L 0.51422 1.61 0.20638 N 0.999876 B;B 0.06786 0.001;0.001 B;B 0.12837 0.005;0.008 T 0.13899 -1.0492 9 0.18710 T 0.47 -0.0805 2.7492 0.05275 0.1146:0.1923:0.1121:0.581 . 44;44 Q9HBE4-2;Q9HBE4 .;IL21_HUMAN T 51 . ENSP00000264497:N51T N - 2 0 IL21 123761465 0.005000 0.15991 0.996000 0.52242 0.992000 0.81027 0.041000 0.13927 0.364000 0.24374 0.533000 0.62120 AAT IL21-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256713.1 - ENST00000264497.3 Missense_Mutation SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 CDH16 1014 broad.mit.edu 37 16 66942312 66942312 + Silent SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr16:66942312G>A ENST00000394055.3 - 18.0 2533 c.2407C>T c.(2407-2409)Ctg>Ttg p.L803L CDH16_ENST00000299752.4_Silent_p.L825L|CDH16_ENST00000565796.1_Silent_p.L786L|CDH16_ENST00000568632.1_Silent_p.L728L|CDH16_ENST00000570262.1_Silent_p.L745L O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 825.0 calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156) basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509) endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41.0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GTCGCCTTCAGGGGCACGCTG 0.592 0 90.0 87.0 88.0 16 66942312.0 2200.0 4300.0 6500.0 SO:0001819 synonymous_variant AF016272 CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1 16q22.1 2010-01-26 ENSG00000166589 ENSG00000166589 1014.0 1014.0 """Cadherins / Major cadherins""" 1755.0 protein-coding gene gene with protein product 603118 9721215, 7615566 Standard NM_004062 NM_004062 Approved uc002eql.3 O75309 OTTHUMG00000137518 ENST00000394055.3:c.2407C>T 16.__UNKNOWN__:g.66942312G>A B4DPA8|H3BPD3|Q6UW93 __UNKNOWN__ CCDS56002.1 CDH16-002 KNOWN basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000268840.1 - ENST00000394055.3 Silent SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 HOXC10 3226 broad.mit.edu 37 12 54379494 54379494 + Missense_Mutation SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr12:54379494G>A ENST00000303460.4 + 1.0 525 c.451G>A c.(451-453)Gcc>Acc p.A151T NM_017409.3 NP_059105.2 Q9NYD6 HXC10_HUMAN homeobox C10 151.0 anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565) endometrium(2)|large_intestine(3)|lung(14)|pancreas(1) 20.0 CTACTACCGCGCCAGCCCGAG 0.677 0 29.0 29.0 29.0 12 54379494.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS8868.1 12q13.13 2011-06-20 2005-12-22 ENSG00000180818 ENSG00000180818 3226.0 3226.0 """Homeoboxes / ANTP class : HOXL subclass""" 5122.0 protein-coding gene gene with protein product 605560 """homeo box C10""" HOX3I 1358459 Standard NM_017409 Approved uc001sen.3 Q9NYD6 OTTHUMG00000160031 ENST00000303460.4:c.451G>A 12.__UNKNOWN__:g.54379494G>A ENSP00000307321:p.Ala151Thr O15219|O15220|Q9BVD5 __UNKNOWN__ CCDS8868.1 . . . . . . . . . . G 13.50 2.254708 0.39896 . . ENSG00000180818 ENST00000515593;ENST00000303460 D 0.91521 -2.86 4.57 2.7 0.31948 . 0.191049 0.46145 D 0.000311 D 0.83811 0.5335 L 0.40543 1.245 0.43545 D 0.995849 B 0.25850 0.136 B 0.11329 0.006 T 0.79482 -0.1785 10 0.41790 T 0.15 . 9.4856 0.38928 0.1803:0.0:0.8197:0.0 . 151 Q9NYD6 HXC10_HUMAN T 39;151 ENSP00000307321:A151T ENSP00000307321:A151T A + 1 0 HOXC10 52665761 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 2.334000 0.43920 1.054000 0.40438 0.511000 0.50034 GCC HOXC10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000358952.2 + ENST00000303460.4 Missense_Mutation SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T A rs121913233 TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr11:533874T>A ENST00000451590.1 - 3.0 369 c.182A>T c.(181-183)cAg>cTg p.Q61L HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61L NM_001130442.1|NM_005343.2 NP_001123914.1|NP_005334.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61.0 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022) p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901.0 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6.0 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) yes Dom yes Costello syndrome 11 11p15.5 3265.0 v-Ha-ras Harvey rat sarcoma viral oncogene homolog """E, L, M""" 256 Substitution - Missense(256) skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1) 117.0 102.0 107.0 11 533874.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Facio-Cutaneous-Skeletal syndrome AJ437024 CCDS7698.1, CCDS7699.1 11p15.5 2014-09-17 2013-07-08 ENSG00000174775 ENSG00000174775 3265.0 3265.0 5173.0 protein-coding gene gene with protein product 190020 """v-Ha-ras Harvey rat sarcoma viral oncogene homolog""" HRAS1 Standard NM_176795 NM_176795 Approved uc010qvx.2 P01112 OTTHUMG00000131919 ENST00000451590.1:c.182A>T 11.__UNKNOWN__:g.533874T>A ENSP00000407586:p.Gln61Leu B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2 __UNKNOWN__ CCDS7698.1 . . . . . . . . . . T 15.80 2.940577 0.52972 . . ENSG00000174775 ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189 D;D;D;D;D 0.83992 -1.79;-1.79;-1.79;-1.79;-1.79 3.64 3.64 0.41730 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.89167 0.6638 H 0.97131 3.945 0.80722 D 1 P;P 0.36412 0.507;0.552 B;B 0.40329 0.145;0.326 D 0.91290 0.5058 10 0.72032 D 0.01 . 11.8872 0.52608 0.0:0.0:0.0:1.0 . 61;61 P01112-2;P01112 .;RASH_HUMAN L 61 ENSP00000380722:Q61L;ENSP00000380723:Q61L;ENSP00000407586:Q61L;ENSP00000388246:Q61L;ENSP00000309845:Q61L ENSP00000309845:Q61L Q - 2 0 HRAS 523874 1.000000 0.71417 0.985000 0.45067 0.482000 0.33219 7.727000 0.84838 1.662000 0.50781 0.459000 0.35465 CAG HRAS-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259403.2 - ENST00000451590.1 Missense_Mutation SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 SMG8 55181 broad.mit.edu 37 17 57288930 57288930 + Missense_Mutation SNP G G T rs142667389 TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr17:57288930G>T ENST00000543872.2 + 2.0 1782 c.1518G>T c.(1516-1518)atG>atT p.M506I SMG8_ENST00000578922.1_Missense_Mutation_p.M506I|SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.M506I Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 506.0 gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070) cytosol (GO:0005829) NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33.0 CTTTACCCATGGCCCACAGTG 0.398 0 84.0 77.0 79.0 17 57288930.0 2203.0 4300.0 6503.0 SO:0001583 missense AL834490 CCDS11615.1 17q23.2 2013-07-02 2013-07-02 2011-06-21 55181.0 55181.0 25551.0 protein-coding gene gene with protein product 613175 """chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)""" C17orf71 19417104 Standard NM_018149 NM_018149 Approved FLJ10587, FLJ23205 uc002ixi.3 Q8ND04 ENST00000543872.2:c.1518G>T 17.__UNKNOWN__:g.57288930G>T ENSP00000438748:p.Met506Ile Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1 __UNKNOWN__ CCDS11615.1 . . . . . . . . . . G 14.85 2.659686 0.47572 . . ENSG00000167447 ENST00000300917;ENST00000543872 T;T 0.41400 1.0;1.0 5.75 5.75 0.90469 . 0.039411 0.85682 D 0.000000 T 0.36386 0.0965 L 0.36672 1.1 0.80722 D 1 B 0.26547 0.152 B 0.23716 0.048 T 0.08086 -1.0739 10 0.22706 T 0.39 -13.6981 18.9389 0.92597 0.0:0.0:1.0:0.0 . 506 Q8ND04 SMG8_HUMAN I 506 ENSP00000300917:M506I;ENSP00000438748:M506I ENSP00000300917:M506I M + 3 0 SMG8 54643712 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.899000 0.87370 2.705000 0.92388 0.655000 0.94253 ATG SMG8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000445960.2 + ENST00000543872.2 Missense_Mutation SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 KRI1 65095 broad.mit.edu 37 19 10665833 10665833 + Missense_Mutation SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr19:10665833G>A ENST00000312962.6 - 18.0 1748 c.1729C>T c.(1729-1731)Cgg>Tgg p.R577W KRI1_ENST00000361821.5_Missense_Mutation_p.R573W NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 571.0 nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26.0 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CTGTACGCCCGCTTGTCCCGC 0.632 0 80.0 80.0 80.0 19 10665833.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS12242.1 19p13.2 2008-02-05 ENSG00000129347 ENSG00000129347 65095.0 65095.0 25769.0 protein-coding gene gene with protein product 12878157 Standard NM_023008 NM_023008 Approved FLJ12949 uc002moy.1 Q8N9T8 OTTHUMG00000150343 ENST00000312962.6:c.1729C>T 19.__UNKNOWN__:g.10665833G>A ENSP00000320917:p.Arg577Trp Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978 __UNKNOWN__ CCDS12242.1 . . . . . . . . . . G 17.69 3.450976 0.63290 . . ENSG00000129347 ENST00000312962;ENST00000361821 T;T 0.10192 3.08;2.9 5.12 0.27 0.15635 Kri1-like, C-terminal (1); 0.172840 0.45126 D 0.000399 T 0.23926 0.0579 L 0.52573 1.65 0.37456 D 0.915024 D;D 0.89917 1.0;1.0 D;D 0.70935 0.971;0.971 T 0.01405 -1.1363 10 0.87932 D 0 -39.3169 13.7973 0.63180 0.0:0.0:0.5408:0.4592 . 577;573 Q8N9T8;D3YTE0 KRI1_HUMAN;. W 577;573 ENSP00000320917:R577W;ENSP00000355366:R573W ENSP00000320917:R577W R - 1 2 KRI1 10526833 0.243000 0.23878 0.881000 0.34555 0.780000 0.44128 0.030000 0.13688 -0.230000 0.09840 -0.457000 0.05445 CGG KRI1-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317705.1 - ENST00000312962.6 Missense_Mutation SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 IP6K1 9807 broad.mit.edu 37 3 49775711 49775711 + Missense_Mutation SNP T T C TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr3:49775711T>C ENST00000468463.1 - 3.0 682 c.368A>G c.(367-369)cAc>cGc p.H123R IP6K1_ENST00000395238.1_5'UTR|IP6K1_ENST00000460540.1_5'UTR|IP6K1_ENST00000321599.4_Missense_Mutation_p.H123R Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 123.0 inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 15.0 GCCTGACCGGTGCAGGCTCCG 0.552 0 133.0 109.0 117.0 3 49775711.0 2203.0 4300.0 6503.0 SO:0001583 missense D87452 CCDS33760.1, CCDS43092.1 3p21.31 2009-01-05 2009-01-05 2008-12-22 ENSG00000176095 ENSG00000176095 9807.0 9807.0 18360.0 protein-coding gene gene with protein product 606991 """inositol hexaphosphate kinase 1""" IHPK1 Standard NM_153273 NM_001242829 Approved KIAA0263 uc003cxm.1 Q92551 OTTHUMG00000158197 ENST00000468463.1:c.368A>G 3.__UNKNOWN__:g.49775711T>C ENSP00000420467:p.His123Arg A8K157|A8MUX4|Q7L3I7|Q96E38 __UNKNOWN__ . . . . . . . . . . T 13.81 2.348738 0.41599 . . ENSG00000176095 ENST00000321599;ENST00000468463 T;T 0.46451 0.87;0.87 5.93 5.93 0.95920 . 0.000000 0.85682 D 0.000000 T 0.35508 0.0934 L 0.40543 1.245 0.80722 D 1 B;B 0.09022 0.001;0.002 B;B 0.08055 0.001;0.003 T 0.14337 -1.0476 10 0.16420 T 0.52 -26.9251 16.3756 0.83387 0.0:0.0:0.0:1.0 . 123;123 C9JNA8;Q92551 .;IP6K1_HUMAN R 123 ENSP00000323780:H123R;ENSP00000420467:H123R ENSP00000323780:H123R H - 2 0 IP6K1 49750715 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 5.821000 0.69257 2.270000 0.75569 0.460000 0.39030 CAC IP6K1-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000350381.1 - ENST00000468463.1 Missense_Mutation SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 LRRN1 57633 broad.mit.edu 37 3 3888472 3888472 + Missense_Mutation SNP G G T TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr3:3888472G>T ENST00000319331.3 + 2.0 2908 c.2147G>T c.(2146-2148)tGg>tTg p.W716L SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 716.0 integral component of membrane (GO:0016021) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26.0 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TATTACATGTGGTAACTCAGA 0.423 0 49.0 52.0 51.0 3 3888472.0 2203.0 4300.0 6503.0 SO:0001583 missense AB040930 CCDS33685.1 3p26.2 2013-01-11 ENSG00000175928 ENSG00000175928 57633.0 57633.0 """Immunoglobulin superfamily / I-set domain containing""" 20980.0 protein-coding gene gene with protein product """fibronectin type III, immunoglobulin and leucine rich repeat domains 3""" 10819331 Standard NM_020873 NM_020873 Approved FIGLER3 uc003bpt.4 Q6UXK5 OTTHUMG00000154934 ENST00000319331.3:c.2147G>T 3.__UNKNOWN__:g.3888472G>T ENSP00000314901:p.Trp716Leu Q3LID5|Q8IYV5|Q9H8V1|Q9P231 __UNKNOWN__ CCDS33685.1 . . . . . . . . . . G 17.40 3.380575 0.61845 . . ENSG00000175928 ENST00000319331 T 0.59083 0.29 5.9 5.01 0.66863 . 0.000000 0.85682 D 0.000000 T 0.73210 0.3558 M 0.62723 1.935 0.53688 D 0.999977 D 0.89917 1.0 D 0.83275 0.996 T 0.75184 -0.3407 10 0.87932 D 0 . 15.4639 0.75384 0.0672:0.0:0.9328:0.0 . 716 Q6UXK5 LRRN1_HUMAN L 716 ENSP00000314901:W716L ENSP00000314901:W716L W + 2 0 LRRN1 3863472 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.934000 0.87649 2.788000 0.95919 0.650000 0.86243 TGG LRRN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337704.2 + ENST00000319331.3 Missense_Mutation SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 EPB42 2038 broad.mit.edu 37 15 43512971 43512971 + Missense_Mutation SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr15:43512971G>A ENST00000441366.2 - 1.0 236 EPB42_ENST00000540029.1_Intron|EPB42_ENST00000300215.3_Missense_Mutation_p.A18V NM_000119.2|NM_001114134.1 NP_000110.2|NP_001107606.1 P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536) cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200) endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20.0 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) TGCGGGGGCTGCATACAGTCC 0.582 0 132.0 128.0 129.0 15 43512971.0 2203.0 4299.0 6502.0 SO:0001627 intron_variant M60298 CCDS10093.1, CCDS45249.1 15q15-q21 2013-05-02 ENSG00000166947 ENSG00000166947 2038.0 2038.0 """Transglutaminases""" 3381.0 protein-coding gene gene with protein product """Erythrocyte surface protein band 4.2""" 177070 1284644 Standard NM_000119 NM_000119 Approved PA, MGC116735, MGC116737 uc001zrb.4 P16452 OTTHUMG00000130701 ENST00000441366.2:c.10+42C>T 15.__UNKNOWN__:g.43512971G>A Q4KKX0|Q4VB97 __UNKNOWN__ CCDS45249.1 . . . . . . . . . . G 15.51 2.856159 0.51376 . . ENSG00000166947 ENST00000300215 D 0.85955 -2.05 3.5 2.37 0.29283 . 10.230900 0.00166 N 0.000007 T 0.67869 0.2939 . . . 0.09310 N 0.999999 B 0.02656 0.0 B 0.01281 0.0 T 0.62854 -0.6766 9 0.05959 T 0.93 -0.1817 5.0058 0.14288 0.8515:0.0:0.1485:0.0 . 18 P16452-2 . V 18 ENSP00000300215:A18V ENSP00000300215:A18V A - 2 0 EPB42 41300263 0.004000 0.15560 0.005000 0.12908 0.006000 0.05464 0.829000 0.27449 0.546000 0.28920 -0.379000 0.06801 GCA EPB42-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000432219.1 - ENST00000441366.2 Intron SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 Unknown 0 bcgsc.ca 37 2 81424354 81424354 + RNA DEL T T - TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr2:81424354delT AC084193.1 (327039 upstream) : AC012075.2 (265464 downstream) CGAGCCAGTCTTTGGAGTCTG 0.577 0 SO:0001628 intergenic_variant 2.__UNKNOWN__:g.81424354delT __UNKNOWN__ 0.0 IGR DEL PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 MAP4K4 9448 ucsc.edu 37 2 102486869 102486869 + Missense_Mutation SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 5e276efa-a716-467d-9ef1-aeaae0a1e1af 9ad87214-6a8b-4246-a8b5-151dcef4fbd7 g.chr2:102486869G>A ENST00000413150.2 + 20.0 2309 c.2254G>A c.(2254-2256)Gtc>Atc p.V752I MAP4K4_ENST00000350198.4_Missense_Mutation_p.V756I|MAP4K4_ENST00000350878.4_Missense_Mutation_p.V813I|MAP4K4_ENST00000456652.1_Missense_Mutation_p.V636I|MAP4K4_ENST00000324219.4_Missense_Mutation_p.V918I|MAP4K4_ENST00000498066.1_3'UTR|MAP4K4_ENST00000425019.1_Missense_Mutation_p.V806I|MAP4K4_ENST00000347699.4_Missense_Mutation_p.V837I|MAP4K4_ENST00000302217.5_Missense_Mutation_p.V640I NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 837.0 intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328) cytoplasm (GO:0005737) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083) p.V918L(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41.0 CACTCTAATCGTCCGCCAGGT 0.493 1 Substitution - Missense(1) skin(1) G ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL 0,4002 0,0,2001 59.0 63.0 62.0 2509,2497,2263,2419,2428 5.3 1.0 2 62.0 1,8321 0,1,4160 no missense,missense,missense,missense,missense MAP4K4 NM_001242559.1,NM_001242560.1,NM_004834.4,NM_145686.3,NM_145687.3 29,29,29,29,29 0,1,6161 AA,AG,GG 0.012,0.0,0.0081 possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging 837/1240,833/1236,755/1166,807/1274,810/1213 102486869.0 1,12323 2001.0 4161.0 6162.0 SO:0001583 missense AF096300 CCDS56130.1, CCDS74546.1 2q11.2-q12 2011-06-09 ENSG00000071054 ENSG00000071054 9448.0 9448.0 """Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases""" 6866.0 protein-coding gene gene with protein product """HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase""" 604666 9890973, 9734811, 9135144 Standard NM_004834 NM_004834 Approved HGK, NIK, FLH21957 uc002tbf.3 O95819 OTTHUMG00000155394 ENST00000413150.2:c.2254G>A 2.__UNKNOWN__:g.102486869G>A ENSP00000389752:p.Val752Ile O75172|Q9NST7 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 13.68|13.68 2.308836|2.308836 0.40895|0.40895 0.0|0.0 1.2E-4|1.2E-4 ENSG00000071054|ENSG00000071054 ENST00000421882|ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878 .|T;T;T;T;T;T;T;T;T .|0.73258 .|-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73 5.34|5.34 5.34|5.34 0.76211|0.76211 .|. .|0.218004 .|0.38272 .|N .|0.001748 T|T 0.70692|0.70692 0.3253|0.3253 N|N 0.17345|0.17345 0.48|0.48 0.38960|0.38960 D|D 0.958535|0.958535 .|B;B;P;B;B;P;D;B;P;P .|0.61697 .|0.011;0.011;0.573;0.011;0.019;0.609;0.99;0.019;0.777;0.777 .|B;B;B;B;B;B;D;B;B;B .|0.64237 .|0.005;0.005;0.018;0.005;0.012;0.09;0.923;0.012;0.163;0.23 T|T 0.66316|0.66316 -0.5954|-0.5954 5|10 .|0.11485 .|T .|0.65 .|. 19.051|19.051 0.93046|0.93046 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. .|813;833;636;640;755;837;806;756;809;918 .|B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948 .|.;.;.;.;.;M4K4_HUMAN;.;.;.;. H|I 653|806;918;756;640;752;636;837;768;813 .|ENSP00000392830:V806I;ENSP00000313644:V918I;ENSP00000281111:V756I;ENSP00000303600:V640I;ENSP00000389752:V752I;ENSP00000387370:V636I;ENSP00000314363:V837I;ENSP00000409720:V768I;ENSP00000343658:V813I .|ENSP00000303600:V640I R|V +|+ 2|1 0|0 MAP4K4|MAP4K4 101853301|101853301 1.000000|1.000000 0.71417|0.71417 0.973000|0.973000 0.42090|0.42090 0.986000|0.986000 0.74619|0.74619 4.185000|4.185000 0.58330|0.58330 2.502000|2.502000 0.84385|0.84385 0.655000|0.655000 0.94253|0.94253 CGT|GTC MAP4K4-003 NOVEL basic protein_coding protein_coding OTTHUMT00000339992.2 + ENST00000413150.2 Missense_Mutation SNP PCPG-TCGA-WB-A80N-Normal-SM-5EMN1 SLC35G2 80723 broad.mit.edu 37 3 136573458 136573458 + Silent SNP T T C TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr3:136573458T>C ENST00000446465.2 + 2.0 784 c.156T>C c.(154-156)aaT>aaC p.N52N RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.N52N|RP11-85F14.5_ENST00000474250.1_RNA NM_025246.2 NP_079522.2 solute carrier family 35, member G2 TGGAGGAAAATCCAAAGAAAG 0.408 0 117.0 133.0 128.0 3 136573458.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC022557 CCDS3091.1 3q22.3 2013-05-22 2012-03-09 2012-03-09 ENSG00000168917 ENSG00000168917 80723.0 80723.0 """Solute carriers""" 28480.0 protein-coding gene gene with protein product """transmembrane protein 22""" TMEM22 11230166 Standard NM_025246 NM_001097600 Approved MGC3295, DKFZp564K2464 uc003erf.4 Q8TBE7 OTTHUMG00000159787 ENST00000446465.2:c.156T>C 3.__UNKNOWN__:g.136573458T>C __UNKNOWN__ CCDS3091.1 SLC35G2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000357317.1 + ENST00000446465.2 Silent SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF TCHHL1 126637 broad.mit.edu 37 1 152058827 152058827 + Missense_Mutation SNP G G A TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr1:152058827G>A ENST00000368806.1 - 3.0 1395 c.1331C>T c.(1330-1332)aCa>aTa p.T444I NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 444.0 calcium ion binding (GO:0005509) breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60.0 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TAGATATTGTGTCTCAGAACC 0.453 0 216.0 204.0 208.0 1 152058827.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS30857.1 1q21.3 2011-10-11 2004-10-05 2006-01-27 ENSG00000182898 ENSG00000182898 126637.0 126637.0 """S100 calcium binding proteins""" 31796.0 protein-coding gene gene with protein product """S100 calcium binding protein A17""" S100A17, THHL1 Standard XM_060104 NM_001008536 Approved uc001ezo.1 Q5QJ38 OTTHUMG00000013058 ENST00000368806.1:c.1331C>T 1.__UNKNOWN__:g.152058827G>A ENSP00000357796:p.Thr444Ile B2RPK8|Q5VTJ9 __UNKNOWN__ CCDS30857.1 . . . . . . . . . . . 15.31 2.794847 0.50102 . . ENSG00000182898 ENST00000368806 T 0.25749 1.78 5.59 2.69 0.31865 . 0.352615 0.20724 N 0.086846 T 0.07143 0.0181 L 0.38838 1.175 0.09310 N 1 B 0.31611 0.331 B 0.30251 0.113 T 0.20472 -1.0274 10 0.37606 T 0.19 -0.3925 8.119 0.30961 0.2588:0.0:0.7412:0.0 . 444 Q5QJ38 TCHL1_HUMAN I 444 ENSP00000357796:T444I ENSP00000357796:T444I T - 2 0 TCHHL1 150325451 0.011000 0.17503 0.001000 0.08648 0.167000 0.22549 1.638000 0.37165 0.730000 0.32425 0.650000 0.86243 ACA TCHHL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000036638.2 - ENST00000368806.1 Missense_Mutation SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF PIK3CA 5290 broad.mit.edu 37 3 178919203 178919203 + Silent SNP C C A TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr3:178919203C>A ENST00000263967.3 + 4.0 845 c.688C>A c.(688-690)Cga>Aga p.R230R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 230.0 PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}. angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944) 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674) 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) 5269.0 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) Caffeine(DB00201) GAAAAAAACTCGAAGTATGTT 0.343 57.0 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) Colon(199;1504 1750 3362 26421 31210 32040) Dom yes 3 3q26.3 5290.0 """phosphoinositide-3-kinase, catalytic, alpha polypeptide""" """E, O""" 0 111.0 102.0 105.0 3 178919203.0 1842.0 4125.0 5967.0 SO:0001819 synonymous_variant CCDS43171.1 3q26.3 2014-09-17 2012-07-13 ENSG00000121879 ENSG00000121879 5290.0 5290.0 2.7.1.153 8975.0 protein-coding gene gene with protein product 171834 """phosphoinositide-3-kinase, catalytic, alpha polypeptide""" 1322797 Standard NM_006218 Approved PI3K uc003fjk.3 P42336 OTTHUMG00000157311 ENST00000263967.3:c.688C>A 3.__UNKNOWN__:g.178919203C>A Q14CW1|Q99762 __UNKNOWN__ CCDS43171.1 PIK3CA-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000348409.2 + ENST00000263967.3 Silent SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF TNK2 10188 broad.mit.edu 37 3 195599219 195599219 + Missense_Mutation SNP T T C TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr3:195599219T>C ENST00000333602.6 - 10.0 1996 c.1379A>G c.(1378-1380)aAc>aGc p.N460S TNK2_ENST00000381916.2_Missense_Mutation_p.N523S|TNK2_ENST00000428187.1_Missense_Mutation_p.N492S|TNK2_ENST00000316664.3_Missense_Mutation_p.N460S|TNK2_ENST00000392400.1_Missense_Mutation_p.N460S NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 460.0 CRIB. Missing (in Ref. 4; AAH08884). {ECO:0000305}. cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264) axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699) 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) 29.0 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) GATGAAGCTGTTCTGCAGGGG 0.657 0 61.0 49.0 53.0 3 195599219.0 2203.0 4300.0 6503.0 SO:0001583 missense L13738 CCDS33927.1, CCDS33928.1 3q29 2013-09-02 ENSG00000061938 ENSG00000061938 10188.0 10188.0 19297.0 protein-coding gene gene with protein product """activated Cdc42-associated kinase 1""" 606994 8497321, 14506255 Standard NM_005781 XM_006713460 Approved p21cdc42Hs, ACK, ACK1 uc003fvt.1 Q07912 OTTHUMG00000155737 ENST00000333602.6:c.1379A>G 3.__UNKNOWN__:g.195599219T>C ENSP00000329425:p.Asn460Ser Q6ZMQ0|Q8N6U7|Q96H59 __UNKNOWN__ CCDS33928.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 27.0|27.0 4.793609|4.793609 0.90453|0.90453 .|. .|. ENSG00000061938|ENSG00000061938 ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400;ENST00000411741;ENST00000316664|ENST00000424563 T;T;T;T;T;T;T|. 0.46063|. 0.88;0.88;0.88;0.88;0.88;0.88;0.88|. 5.45|5.45 5.45|5.45 0.79879|0.79879 GTPase binding (1);|. 0.045029|. 0.85682|. D|. 0.000000|. T|T 0.69269|0.69269 0.3092|0.3092 L|L 0.58101|0.58101 1.795|1.795 0.48975|0.48975 D|D 0.999733|0.999733 B;D;D;B|. 0.60160|. 0.118;0.987;0.983;0.437|. B;P;P;P|. 0.60286|. 0.159;0.872;0.798;0.475|. T|T 0.68085|0.68085 -0.5502|-0.5502 10|5 0.28530|. T|. 0.3|. .|. 14.3407|14.3407 0.66624|0.66624 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. 336;460;523;492|. Q59FX1;Q07912;Q07912-3;C9J1X3|. .;ACK1_HUMAN;.;.|. S|A 460;523;12;492;460;105;460|70 ENSP00000329425:N460S;ENSP00000371341:N523S;ENSP00000398614:N12S;ENSP00000392546:N492S;ENSP00000376201:N460S;ENSP00000415126:N105S;ENSP00000323216:N460S|. ENSP00000323216:N460S|. N|T -|- 2|1 0|0 TNK2|TNK2 197083616|197083616 1.000000|1.000000 0.71417|0.71417 0.944000|0.944000 0.38274|0.38274 0.950000|0.950000 0.60333|0.60333 5.855000|5.855000 0.69510|0.69510 2.077000|2.077000 0.62373|0.62373 0.459000|0.459000 0.35465|0.35465 AAC|ACA TNK2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000341437.3 - ENST00000333602.6 Missense_Mutation SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF MRGPRX4 117196 broad.mit.edu 37 11 18195692 18195692 + Missense_Mutation SNP G G A TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr11:18195692G>A ENST00000314254.3 + 1.0 1309 c.889G>A c.(889-891)Gac>Aac p.D297N RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 297.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32.0 GGCTCTGCAGGACAAGCCTGA 0.552 0 64.0 68.0 67.0 11 18195692.0 2199.0 4293.0 6492.0 SO:0001583 missense AY042216 CCDS7831.1 11p15.1 2013-10-10 ENSG00000179817 ENSG00000179817 117196.0 117196.0 """GPCR / Class A : Orphans""" 17617.0 protein-coding gene gene with protein product 607230 11551509 Standard NM_054032 NM_054032 Approved MRGX4 uc001mnv.1 Q96LA9 OTTHUMG00000166442 ENST00000314254.3:c.889G>A 11.__UNKNOWN__:g.18195692G>A ENSP00000314042:p.Asp297Asn Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7 __UNKNOWN__ CCDS7831.1 . . . . . . . . . . G 22.9 4.348647 0.82132 . . ENSG00000179817 ENST00000314254 T 0.18810 2.19 2.85 2.85 0.33270 . 0.422206 0.22515 N 0.059042 T 0.44095 0.1277 M 0.81942 2.565 0.22017 N 0.999413 D 0.89917 1.0 D 0.76575 0.988 T 0.13764 -1.0497 10 0.87932 D 0 . 9.2601 0.37608 0.0:0.0:1.0:0.0 . 297 Q96LA9 MRGX4_HUMAN N 297 ENSP00000314042:D297N ENSP00000314042:D297N D + 1 0 MRGPRX4 18152268 0.008000 0.16893 0.956000 0.39512 0.678000 0.39670 0.655000 0.24933 1.616000 0.50265 0.430000 0.28490 GAC MRGPRX4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389788.1 + ENST00000314254.3 Missense_Mutation SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF KRT6C 286887 broad.mit.edu 37 12 52863523 52863523 + Missense_Mutation SNP A A G TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr12:52863523A>G ENST00000252250.6 - 7.0 1402 c.1355T>C c.(1354-1356)aTg>aCg p.M452T NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 452.0 Coil 2.|Rod. intermediate filament cytoskeleton organization (GO:0045104) extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23.0 BRCA - Breast invasive adenocarcinoma(357;0.0828) CTTGACATTCATCAGCTCCTG 0.597 0 114.0 100.0 105.0 12 52863523.0 2203.0 4300.0 6503.0 SO:0001583 missense L42611 CCDS8829.1 12q13.13 2013-01-16 2006-07-17 2006-07-17 ENSG00000170465 ENSG00000170465 286887.0 286887.0 """-"", ""Intermediate filaments type II, keratins (basic)""" 20406.0 protein-coding gene gene with protein product 612315 """keratin 6E""" KRT6E 7543104, 16831889 Standard NM_173086 NM_173086 Approved uc001sal.4 P48668 OTTHUMG00000169596 ENST00000252250.6:c.1355T>C 12.__UNKNOWN__:g.52863523A>G ENSP00000252250:p.Met452Thr A1L4L5|P48666|Q2TAZ9|Q7RTN9 __UNKNOWN__ CCDS8829.1 . . . . . . . . . . A 16.19 3.052630 0.55218 . . ENSG00000170465 ENST00000252250;ENST00000411979 D 0.89050 -2.46 3.77 3.77 0.43336 Filament (1); 0.155967 0.45126 D 0.000391 D 0.94509 0.8232 H 0.94734 3.575 0.47698 D 0.999494 P 0.51057 0.941 P 0.55391 0.775 D 0.95681 0.8732 10 0.87932 D 0 . 12.9392 0.58333 1.0:0.0:0.0:0.0 . 452 P48668 K2C6C_HUMAN T 452;437 ENSP00000252250:M452T ENSP00000252250:M452T M - 2 0 KRT6C 51149790 1.000000 0.71417 0.985000 0.45067 0.416000 0.31233 8.806000 0.91930 1.698000 0.51180 0.368000 0.22195 ATG KRT6C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404976.1 - ENST00000252250.6 Missense_Mutation SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF KMT2A 4297 broad.mit.edu 37 11 118372559 118372559 + Silent SNP G G A rs145452548 by1000genomes TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr11:118372559G>A ENST00000534358.1 + 26.0 6515 c.6492G>A c.(6490-6492)ccG>ccA p.P2164P KMT2A_ENST00000389506.5_Silent_p.P2161P|KMT2A_ENST00000354520.4_Silent_p.P2123P NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 Q03164 KMT2A_HUMAN lysine (K)-specific methyltransferase 2A 2161.0 anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634) AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270) GCTGTCGACCGTTGCCTTCTG 0.443 g 3.0 0.0014 2184.0 0.01 1.0 , , 0.0003 0.0014 0.9844 LOWCOV,EXOME 0.001 SNP 0 80.0 80.0 80.0 11 118372559.0 2200.0 4296.0 6496.0 SO:0001819 synonymous_variant L04284 CCDS31686.1, CCDS55791.1 11q23 2014-09-17 2013-05-09 2013-05-09 ENSG00000118058 ENSG00000118058 4297.0 4297.0 """Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type""" 7132.0 protein-coding gene gene with protein product 159555 """myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)""" MLL 1720549 Standard NM_005933 NM_001197104 Approved TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A Q03164 OTTHUMG00000166337 ENST00000534358.1:c.6492G>A 11.__UNKNOWN__:g.118372559G>A E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3 __UNKNOWN__ CCDS55791.1 KMT2A-001 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000389228.2 + ENST00000534358.1 Silent SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF CYP2A6 1548 broad.mit.edu 37 19 41354569 41354569 + Missense_Mutation SNP C C T TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr19:41354569C>T ENST00000301141.5 - 3.0 463 c.443G>A c.(442-444)cGc>cAc p.R148H CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 148.0 coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805) cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789) coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|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 (GO:0016712) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37.0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495) CTCCTGGATGCGCTCCTCGAT 0.692 0 40.0 43.0 42.0 19 41354569.0 2203.0 4299.0 6502.0 SO:0001583 missense AF182275 CCDS12568.1 19q13.2 2013-11-11 2003-01-14 ENSG00000255974 ENSG00000255974 1548.0 1548.0 """Cytochrome P450s""" 2610.0 protein-coding gene gene with protein product 122720 """cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6""" CYP2A3 7668294, 2748347 Standard NM_000762 NM_000762 Approved CPA6, CYP2A uc002opl.4 P11509 OTTHUMG00000182713 ENST00000301141.5:c.443G>A 19.__UNKNOWN__:g.41354569C>T ENSP00000301141:p.Arg148His A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48 __UNKNOWN__ CCDS12568.1 . . . . . . . . . . - 22.6 4.316606 0.81469 . . ENSG00000255974 ENST00000301141 T 0.69926 -0.44 2.95 2.95 0.34219 . 0.066533 0.64402 U 0.000010 T 0.70657 0.3249 L 0.31578 0.945 0.27654 N 0.947303 D 0.89917 1.0 D 0.77557 0.99 T 0.64875 -0.6304 10 0.72032 D 0.01 . 12.796 0.57560 0.0:1.0:0.0:0.0 . 148 P11509 CP2A6_HUMAN H 148 ENSP00000301141:R148H ENSP00000301141:R148H R - 2 0 CYP2A6 46046409 0.001000 0.12720 0.975000 0.42487 0.336000 0.28762 1.089000 0.30890 1.487000 0.48415 0.386000 0.25728 CGC CYP2A6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463259.1 - ENST00000301141.5 Missense_Mutation SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF SPTBN1 0 broad.mit.edu 37 2 54853144 54853144 + Missense_Mutation SNP G G A TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr2:54853144G>A ENST00000356805.4 + 12.0 1698 c.1417G>A c.(1417-1419)Gca>Aca p.A473T SPTBN1_ENST00000333896.5_Missense_Mutation_p.A460T NM_003128.2 NP_003119.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 473.0 actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661) axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200) 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) 82.0 Lung(47;0.24) AGACATTGCCGCATACGAGGA 0.537 0 86.0 82.0 83.0 2 54853144.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS33198.1, CCDS33199.1 2p21 2013-01-10 ENSG00000115306 ENSG00000115306 6711.0 """Pleckstrin homology (PH) domain containing""" 11275.0 protein-coding gene gene with protein product 182790 Standard NM_003128 Approved uc002rxu.3 Q01082 OTTHUMG00000133746 ENST00000356805.4:c.1417G>A 2.__UNKNOWN__:g.54853144G>A ENSP00000349259:p.Ala473Thr B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99 __UNKNOWN__ CCDS33198.1 . . . . . . . . . . G 34 5.304477 0.95601 . . ENSG00000115306 ENST00000356805;ENST00000389980;ENST00000333896 T;T;T 0.55588 0.51;0.51;0.51 5.81 4.92 0.64577 . 0.054281 0.64402 D 0.000001 T 0.72399 0.3455 M 0.79614 2.46 0.58432 D 0.999998 D;D 0.89917 0.994;1.0 P;D 0.67900 0.733;0.954 T 0.77362 -0.2616 10 0.87932 D 0 . 16.1709 0.81817 0.0:0.0:0.8655:0.1345 . 460;473 Q01082-3;Q01082 .;SPTB2_HUMAN T 473;473;460 ENSP00000349259:A473T;ENSP00000374630:A473T;ENSP00000334156:A460T ENSP00000334156:A460T A + 1 0 SPTBN1 54706648 1.000000 0.71417 0.138000 0.22173 0.993000 0.82548 9.802000 0.99131 1.424000 0.47217 0.650000 0.86243 GCA SPTBN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000258115.3 + ENST00000356805.4 Missense_Mutation SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF LEPREL1 55214 broad.mit.edu 37 3 189705336 189705336 + Missense_Mutation SNP C C T TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr3:189705336C>T ENST00000319332.5 - 5.0 1275 c.1078G>A c.(1078-1080)Gca>Aca p.A360T LEPREL1_ENST00000427335.2_Missense_Mutation_p.A179T NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 360.0 collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511) basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794) iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797) 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) 41.0 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) TCAATGGATGCCGGGTCAATG 0.428 0 95.0 82.0 86.0 3 189705336.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS3294.1, CCDS46981.1 3q29 2014-01-28 ENSG00000090530 ENSG00000090530 55214.0 55214.0 1.14.11.7 19317.0 protein-coding gene gene with protein product """prolyl 3-hydroxylase 2""" 610341 15063763, 21885030 Standard NM_018192 NM_018192 Approved FLJ10718, MLAT4, P3H2 uc011bsk.2 Q8IVL5 OTTHUMG00000156312 ENST00000319332.5:c.1078G>A 3.__UNKNOWN__:g.189705336C>T ENSP00000316881:p.Ala360Thr B3KPK0|B3KWI9|D3DNV8|Q9NVI2 __UNKNOWN__ CCDS3294.1 . . . . . . . . . . C 4.420 0.077755 0.08485 . . ENSG00000090530 ENST00000319332;ENST00000427335 T;T 0.35048 1.33;1.66 5.98 3.11 0.35812 . 1.153240 0.06099 N 0.665131 T 0.27169 0.0666 L 0.27053 0.805 0.09310 N 1 B 0.06786 0.001 B 0.06405 0.002 T 0.14448 -1.0472 9 . . . 0.0236 9.436 0.38639 0.0:0.7421:0.121:0.1369 . 360 Q8IVL5 P3H2_HUMAN T 360;179 ENSP00000316881:A360T;ENSP00000408947:A179T . A - 1 0 LEPREL1 191188030 0.001000 0.12720 0.896000 0.35187 0.255000 0.26057 1.212000 0.32394 1.549000 0.49425 -0.225000 0.12378 GCA LEPREL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000343855.1 - ENST00000319332.5 Missense_Mutation SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF NDN 4692 broad.mit.edu 37 15 23932274 23932274 + Missense_Mutation SNP C C T TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr15:23932274C>T ENST00000331837.4 - 1.0 176 c.91G>A c.(91-93)Ggg>Agg p.G31R NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 31.0 axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351) cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634) DNA binding (GO:0003677) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39.0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GGAGGAACCCCCTCCGAAACC 0.687 Prader-Willi syndrome C 1.0 0.0005 2184.0 0.0017 0.9996 , , 0.0004 0.0006 0.7318 EXOME 0.0051 SNP 0 14.0 14.0 14.0 15 23932274.0 1713.0 3439.0 5152.0 SO:0001583 missense Familial Cancer Database Prader-Labhart-Willi syndrome U35139 CCDS10014.1 15q11-q12 2012-12-07 2012-12-07 ENSG00000182636 ENSG00000182636 4692.0 4692.0 7675.0 protein-coding gene gene with protein product """Prader-Willi syndrome chromosome region""" 602117 """necdin (mouse) homolog"", ""necdin homolog (mouse)""" 9302265 Standard NM_002487 NM_002487 Approved HsT16328, PWCR uc001ywk.3 Q99608 OTTHUMG00000129161 ENST00000331837.4:c.91G>A 15.__UNKNOWN__:g.23932274C>T ENSP00000332643:p.Gly31Arg B2R6Z5 __UNKNOWN__ CCDS10014.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 14.37 2.514040 0.44763 . . ENSG00000182636 ENST00000331837 T 0.02498 4.27 3.75 3.75 0.43078 . 13.163000 0.00166 N 0.000009 T 0.02649 0.0080 N 0.08118 0 0.09310 N 1 P 0.36065 0.535 B 0.34722 0.188 T 0.40496 -0.9560 10 0.29301 T 0.29 . 11.7812 0.52016 0.0:1.0:0.0:0.0 . 31 Q99608 NECD_HUMAN R 31 ENSP00000332643:G31R ENSP00000332643:G31R G - 1 0 NDN 21483367 0.000000 0.05858 0.024000 0.17045 0.013000 0.08279 -0.035000 0.12205 2.026000 0.59711 0.561000 0.74099 GGG NDN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251226.2 - ENST00000331837.4 Missense_Mutation SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF CST1 1469 broad.mit.edu 37 20 23728528 23728528 + Silent SNP C C T TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr20:23728528C>T ENST00000304749.2 - 3.0 421 c.351G>A c.(349-351)ttG>ttA p.L117L CST1_ENST00000398402.1_Silent_p.L117L NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 117.0 detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951) extracellular space (GO:0005615) cysteine-type endopeptidase inhibitor activity (GO:0004869) p.L117L(1) kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13.0 Lung NSC(19;0.0676)|all_lung(19;0.148) CGAAAGAGCACAACTGTTTCT 0.527 1 Substitution - coding silent(1) lung(1) 93.0 81.0 85.0 20 23728528.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant M19169 CCDS13160.1 20p11.2 2008-04-15 ENSG00000170373 ENSG00000170373 1469.0 1469.0 2473.0 protein-coding gene gene with protein product 123855 Standard NM_001898 NM_001898 Approved uc002wtp.3 P01037 OTTHUMG00000032085 ENST00000304749.2:c.351G>A 20.__UNKNOWN__:g.23728528C>T Q96LE6|Q9UCQ6 __UNKNOWN__ CCDS13160.1 CST1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078351.2 - ENST00000304749.2 Silent SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr11:533874T>C ENST00000451590.1 - 3.0 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R NM_001130442.1|NM_005343.2 NP_001123914.1|NP_005334.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61.0 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022) p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901.0 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6.0 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) yes Dom yes Costello syndrome 11 11p15.5 3265.0 v-Ha-ras Harvey rat sarcoma viral oncogene homolog """E, L, M""" 256 Substitution - Missense(256) skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1) 117.0 102.0 107.0 11 533874.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Facio-Cutaneous-Skeletal syndrome AJ437024 CCDS7698.1, CCDS7699.1 11p15.5 2014-09-17 2013-07-08 ENSG00000174775 ENSG00000174775 3265.0 3265.0 5173.0 protein-coding gene gene with protein product 190020 """v-Ha-ras Harvey rat sarcoma viral oncogene homolog""" HRAS1 Standard NM_176795 NM_176795 Approved uc010qvx.2 P01112 OTTHUMG00000131919 ENST00000451590.1:c.182A>G 11.__UNKNOWN__:g.533874T>C ENSP00000407586:p.Gln61Arg B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2 __UNKNOWN__ CCDS7698.1 . . . . . . . . . . T 14.48 2.546606 0.45383 . . ENSG00000174775 ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189 D;D;D;D;D 0.83673 -1.75;-1.75;-1.75;-1.75;-1.75 3.64 3.64 0.41730 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85613 0.5737 M 0.90870 3.155 0.80722 D 1 B;B 0.21071 0.051;0.008 B;B 0.22152 0.022;0.038 D 0.85970 0.1476 10 0.66056 D 0.02 . 11.8872 0.52608 0.0:0.0:0.0:1.0 . 61;61 P01112-2;P01112 .;RASH_HUMAN R 61 ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R ENSP00000309845:Q61R Q - 2 0 HRAS 523874 1.000000 0.71417 0.985000 0.45067 0.482000 0.33219 7.727000 0.84838 1.662000 0.50781 0.459000 0.35465 CAG HRAS-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259403.2 - ENST00000451590.1 Missense_Mutation SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF APC 324 broad.mit.edu 37 5 112178930 112178930 + Missense_Mutation SNP T T C TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr5:112178930T>C ENST00000457016.1 + 16.0 8019 c.7639T>C c.(7639-7641)Tgg>Cgg p.W2547R CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.W2547R|APC_ENST00000257430.4_Missense_Mutation_p.W2547R P25054 APC_HUMAN adenomatous polyposis coli 2547.0 Ser-rich. anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830) axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923) beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887) 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) 3261.0 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) GTCAGGAACCTGGAAACGTGA 0.428 12.0 """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) NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115) yes Rec yes Adenomatous polyposis coli; Turcot syndrome 5 5q21 324.0 adenomatous polyposis of the colon gene """E, M, O""" 1 Unknown(1) skin(1) 87.0 85.0 85.0 5 112178930.0 2202.0 4300.0 6502.0 SO:0001583 missense Familial Cancer Database Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s, M74088 CCDS4107.1 5q21-q22 2014-09-17 2008-01-08 ENSG00000134982 ENSG00000134982 324.0 324.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing""" 583.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 46""" 611731 """adenomatosis polyposis coli""" 1651563 Standard NM_000038 NM_001127511 Approved DP2, DP3, DP2.5, PPP1R46 uc003kpy.4 P25054 OTTHUMG00000128806 ENST00000457016.1:c.7639T>C 5.__UNKNOWN__:g.112178930T>C ENSP00000413133:p.Trp2547Arg D3DT03|Q15162|Q15163|Q93042 __UNKNOWN__ CCDS4107.1 . . . . . . . . . . T 15.66 2.898971 0.52227 . . ENSG00000134982 ENST00000457016;ENST00000257430;ENST00000508376 D;D;D 0.82803 -1.65;-1.65;-1.65 6.07 6.07 0.98685 Adenomatous polyposis coli protein basic domain (1); 0.000000 0.85682 D 0.000000 D 0.86226 0.5882 L 0.29908 0.895 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 D 0.85128 0.0973 9 . . . -5.4668 16.6288 0.85011 0.0:0.0:0.0:1.0 . 2549;2547 Q4LE70;P25054 .;APC_HUMAN R 2547 ENSP00000413133:W2547R;ENSP00000257430:W2547R;ENSP00000427089:W2547R . W + 1 0 APC 112206829 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 6.396000 0.73234 2.326000 0.78906 0.533000 0.62120 TGG APC-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250738.2 + ENST00000457016.1 Missense_Mutation SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF SCP2 6342 broad.mit.edu 37 1 53516319 53516319 + Missense_Mutation SNP G G A TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr1:53516319G>A ENST00000528311.1 + 15.0 1640 c.1344G>A c.(1342-1344)atG>atA p.M448I SCP2_ENST00000435345.2_Missense_Mutation_p.M125I|SCP2_ENST00000430330.2_Missense_Mutation_p.M122I|SCP2_ENST00000371509.4_Missense_Mutation_p.M485I|SCP2_ENST00000488965.1_3'UTR|SCP2_ENST00000371514.3_Missense_Mutation_p.M529I|SCP2_ENST00000407246.2_Missense_Mutation_p.M505I|SCP2_ENST00000408941.3_3'UTR NM_001193617.1 NP_001180546.1 Q9BX26 SYCP2_HUMAN sterol carrier protein 2 0.0 female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130) lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795) DNA binding (GO:0003677) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 15.0 CTGGCAACATGGGTCTCGCTA 0.373 0 127.0 129.0 128.0 1 53516319.0 2203.0 4300.0 6503.0 SO:0001583 missense M75884 CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1 1p32 2010-08-20 ENSG00000116171 ENSG00000116171 6342.0 6342.0 10606.0 protein-coding gene gene with protein product 184755 1703300, 1718316 Standard NM_002979 NM_001007098 Approved uc001cur.2 P22307 OTTHUMG00000008936 ENST00000528311.1:c.1344G>A 1.__UNKNOWN__:g.53516319G>A ENSP00000434132:p.Met448Ile A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27 __UNKNOWN__ CCDS53319.1 . . . . . . . . . . G 28.4 4.914747 0.92178 . . ENSG00000116171 ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000430330;ENST00000435345 T;T;T;T;T;T 0.20598 2.06;2.06;2.06;2.06;2.06;2.06 6.06 6.06 0.98353 SCP2 sterol-binding domain (2); 0.037040 0.85682 D 0.000000 T 0.42720 0.1215 L 0.49640 1.575 0.80722 D 1 P;P;B;P 0.45986 0.707;0.781;0.051;0.87 P;P;B;P 0.61800 0.789;0.894;0.3;0.894 T 0.04360 -1.0957 10 0.87932 D 0 -25.4539 19.4112 0.94673 0.0:0.0:1.0:0.0 . 505;485;122;529 C9JC79;A6NM69;E1B6W5;P22307 .;.;.;NLTP_HUMAN I 529;448;485;505;122;125 ENSP00000360569:M529I;ENSP00000434132:M448I;ENSP00000360564:M485I;ENSP00000384569:M505I;ENSP00000406636:M122I;ENSP00000396413:M125I ENSP00000360564:M485I M + 3 0 SCP2 53288907 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 8.857000 0.92250 2.880000 0.98712 0.650000 0.86243 ATG SCP2-010 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000387558.1 + ENST00000528311.1 Missense_Mutation SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF C6 729 broad.mit.edu 37 5 41149523 41149523 + Missense_Mutation SNP C C T TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr5:41149523C>T ENST00000263413.3 - 17.0 2707 c.2443G>A c.(2443-2445)Gct>Act p.A815T C6_ENST00000337836.5_Missense_Mutation_p.A815T NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 815.0 C5b-binding domain.|Factor I module (FIM) 1.|Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}. complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96.0 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AACTTACAAGCGGGTGAAGTA 0.418 0 126.0 135.0 132.0 5 41149523.0 2203.0 4300.0 6503.0 SO:0001583 missense J05024 CCDS3936.1 5p13.1 2014-09-17 ENSG00000039537 ENSG00000039537 729.0 729.0 """Complement system""" 1339.0 protein-coding gene gene with protein product 217050 Standard NM_001115131 Approved uc003jmk.3 P13671 OTTHUMG00000094781 ENST00000263413.3:c.2443G>A 5.__UNKNOWN__:g.41149523C>T ENSP00000263413:p.Ala815Thr __UNKNOWN__ CCDS3936.1 . . . . . . . . . . C 5.689 0.311736 0.10789 . . ENSG00000039537 ENST00000337836;ENST00000263413 T;T 0.04654 3.58;3.58 5.76 3.75 0.43078 Proteinase inhibitor I1, Kazal (1);Factor I / membrane attack complex (1);Protease inhibitor, Kazal-type (1); 0.506944 0.22732 N 0.056307 T 0.03520 0.0101 L 0.36672 1.1 0.27730 N 0.944844 B 0.18166 0.026 B 0.14578 0.011 T 0.36480 -0.9746 10 0.20519 T 0.43 -1.7053 2.87 0.05614 0.0:0.4485:0.2432:0.3083 . 815 P13671 CO6_HUMAN T 815 ENSP00000338861:A815T;ENSP00000263413:A815T ENSP00000263413:A815T A - 1 0 C6 41185280 0.161000 0.22892 0.532000 0.27989 0.247000 0.25773 0.470000 0.22084 1.445000 0.47624 0.655000 0.94253 GCT C6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000211592.1 - ENST00000263413.3 Missense_Mutation SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF ANKS6 203286 ucsc.edu 37 9 101498834 101498834 + Missense_Mutation SNP G G T TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr9:101498834G>T ENST00000375019.2 - 14.0 2002 c.1680C>A c.(1678-1680)aaC>aaA p.N560K ANKS6_ENST00000353234.4_Missense_Mutation_p.N861K|ANKS6_ENST00000375018.1_Missense_Mutation_p.N862K|ANKS6_ENST00000540940.1_Missense_Mutation_p.N666K Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 861.0 cilium (GO:0005929)|cytoplasm (GO:0005737) endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21.0 Acute lymphoblastic leukemia(62;0.0527) GGGCCCTGGTGTTGCTGGCAC 0.562 0 67.0 73.0 71.0 9 101498834.0 1982.0 4151.0 6133.0 SO:0001583 missense AK094247 CCDS43856.1 9q31.1 2013-09-10 2006-02-17 2006-02-17 ENSG00000165138 ENSG00000165138 203286.0 203286.0 """Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing""" 26724.0 protein-coding gene gene with protein product 615370 """sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14""" SAMD6, ANKRD14 23793029 Standard NM_173551 XM_005251793 Approved FLJ36928, NPHP16 uc004ayu.3 Q68DC2 OTTHUMG00000020347 ENST00000375019.2:c.1680C>A 9.__UNKNOWN__:g.101498834G>T ENSP00000364159:p.Asn560Lys A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 19.34|19.34 3.808051|3.808051 0.70797|0.70797 .|. .|. ENSG00000165138|ENSG00000165138 ENST00000444472|ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940 .|T;T;T;T .|0.70045 .|1.7;-0.45;-0.45;1.98 5.31|5.31 1.97|1.97 0.26223|0.26223 .|. .|0.046860 .|0.85682 .|D .|0.000000 T|T 0.65626|0.65626 0.2709|0.2709 N|N 0.24115|0.24115 0.695|0.695 0.30576|0.30576 N|N 0.763013|0.763013 .|D;D .|0.71674 .|0.998;0.996 .|D;D .|0.70487 .|0.969;0.932 T|T 0.64245|0.64245 -0.6453|-0.6453 5|10 .|0.72032 .|D .|0.01 -39.4315|-39.4315 7.8362|7.8362 0.29371|0.29371 0.3245:0.0:0.6755:0.0|0.3245:0.0:0.6755:0.0 .|. .|862;861 .|Q68DC2-4;Q68DC2 .|.;ANKS6_HUMAN N|K 331|560;862;861;666 .|ENSP00000364159:N560K;ENSP00000364158:N862K;ENSP00000297837:N861K;ENSP00000442189:N666K .|ENSP00000297837:N861K H|N -|- 1|3 0|2 ANKS6|ANKS6 100538655|100538655 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 2.424000|2.424000 0.44714|0.44714 0.735000|0.735000 0.32537|0.32537 0.655000|0.655000 0.94253|0.94253 CAC|AAC ANKS6-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000053378.2 - ENST00000375019.2 Missense_Mutation SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF GAL3ST1 9514 ucsc.edu 37 22 30953272 30953272 + Silent SNP C C A TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr22:30953272C>A ENST00000402321.1 - 2.0 425 c.108G>T c.(106-108)ccG>ccT p.P36P GAL3ST1_ENST00000443111.2_Silent_p.P36P|GAL3ST1_ENST00000406361.1_Silent_p.P36P|GAL3ST1_ENST00000406955.1_Silent_p.P36P|GAL3ST1_ENST00000402369.1_Silent_p.P36P|GAL3ST1_ENST00000338911.5_Silent_p.P36P|GAL3ST1_ENST00000401975.1_Silent_p.P36P Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 36.0 galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665) Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21.0 CGGCATGCAGCGGGGGCACGG 0.647 0 65.0 68.0 67.0 22 30953272.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D88667 CCDS13879.1 22q12.2 2007-04-02 ENSG00000128242 ENSG00000128242 9514.0 9514.0 """Sulfotransferases, membrane-bound""" 24240.0 protein-coding gene gene with protein product """cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase""" 602300 9847074, 9030544 Standard NM_004861 NM_004861 Approved CST uc003aii.1 Q99999 OTTHUMG00000151200 ENST00000402321.1:c.108G>T 22.__UNKNOWN__:g.30953272C>A Q96C63 __UNKNOWN__ CCDS13879.1 GAL3ST1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000321745.1 - ENST00000402321.1 Silent SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF GREB1 9687 ucsc.edu 37 2 11758441 11758441 + Missense_Mutation SNP C C A TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr2:11758441C>A ENST00000381486.2 + 22.0 3740 c.3440C>A c.(3439-3441)gCt>gAt p.A1147D GREB1_ENST00000234142.5_Missense_Mutation_p.A1147D|GREB1_ENST00000396123.1_Missense_Mutation_p.A145D NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1147.0 Ser-rich. integral component of membrane (GO:0016021) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30.0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GAGTCCTCGGCTCAGCCCACA 0.667 Ovarian(39;850 945 2785 23371 33093) 0 29.0 31.0 30.0 2 11758441.0 2052.0 4127.0 6179.0 SO:0001583 missense CCDS33146.1, CCDS33147.1, CCDS42655.1 2p25.1 2010-02-17 2009-09-10 ENSG00000196208 ENSG00000196208 9687.0 9687.0 24885.0 protein-coding gene gene with protein product """gene regulated by estrogen in breast cancer""" 611736 11103799 Standard NM_014668 NM_014668 Approved KIAA0575 uc002rbk.1 Q4ZG55 OTTHUMG00000141276 ENST00000381486.2:c.3440C>A 2.__UNKNOWN__:g.11758441C>A ENSP00000370896:p.Ala1147Asp A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8 __UNKNOWN__ CCDS42655.1 . . . . . . . . . . C 13.44 2.238484 0.39598 . . ENSG00000196208 ENST00000381486;ENST00000234142;ENST00000396123 T;T;T 0.24151 3.19;3.19;1.87 4.85 4.85 0.62838 . 0.280066 0.21762 U 0.069481 T 0.14960 0.0361 N 0.08118 0 0.09310 N 1 B 0.26195 0.144 B 0.25291 0.059 T 0.16424 -1.0403 10 0.30078 T 0.28 -20.8623 15.4432 0.75204 0.0:1.0:0.0:0.0 . 1147 Q4ZG55 GREB1_HUMAN D 1147;1147;145 ENSP00000370896:A1147D;ENSP00000234142:A1147D;ENSP00000379429:A145D ENSP00000234142:A1147D A + 2 0 GREB1 11675892 0.000000 0.05858 0.120000 0.21714 0.057000 0.15508 -0.328000 0.07945 2.253000 0.74438 0.655000 0.94253 GCT GREB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000280490.1 + ENST00000381486.2 Missense_Mutation SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF MSH4 4438 ucsc.edu 37 1 76262737 76262737 + Missense_Mutation SNP A A G TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr1:76262737A>G ENST00000263187.3 + 1.0 171 c.67A>G c.(67-69)Acc>Gcc p.T23A NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 23.0 ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283) nucleus (GO:0005634)|synaptonemal complex (GO:0000795) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983) breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47.0 GTCGGGAGAAACCCGCTCACC 0.617 Mismatch excision repair (MMR) 0 34.0 35.0 35.0 1 76262737.0 2203.0 4300.0 6503.0 SO:0001583 missense U89293 CCDS670.1 1p31 2013-09-12 2013-09-12 ENSG00000057468 ENSG00000057468 4438.0 4438.0 7327.0 protein-coding gene gene with protein product 602105 """mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)""" 9299235 Standard NM_002440 NM_002440 Approved uc001dhd.2 O15457 OTTHUMG00000009788 ENST00000263187.3:c.67A>G 1.__UNKNOWN__:g.76262737A>G ENSP00000263187:p.Thr23Ala Q5T4U6|Q8NEB3|Q9UNP8 __UNKNOWN__ CCDS670.1 . . . . . . . . . . A 0.054 -1.241268 0.01493 . . ENSG00000057468 ENST00000263187 D 0.86230 -2.09 3.1 0.102 0.14522 . 268.896000 0.00166 N 0.000004 T 0.49830 0.1580 N 0.08118 0 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.53704 -0.8401 10 0.11485 T 0.65 . 5.1425 0.14967 0.4491:0.0:0.5509:0.0 . 23 O15457 MSH4_HUMAN A 23 ENSP00000263187:T23A ENSP00000263187:T23A T + 1 0 MSH4 76035325 0.000000 0.05858 0.000000 0.03702 0.045000 0.14185 -1.340000 0.02650 0.019000 0.15079 -0.464000 0.05259 ACC MSH4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000026983.1 + ENST00000263187.3 Missense_Mutation SNP PCPG-TCGA-WB-A80O-Normal-SM-5EMNF CCNDBP1 23582 broad.mit.edu 37 15 43483811 43483811 + Silent SNP G G C TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr15:43483811G>C ENST00000300213.4 + 8.0 1040 c.798G>C c.(796-798)ggG>ggC p.G266G EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_Silent_p.G105G NM_012142.4 NP_036274.3 O95273 CCDB1_HUMAN cyclin D-type binding-protein 1 266.0 Interaction with RPLP0.|Interaction with TCF3. cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726) cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 13.0 all_cancers(109;3.31e-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;8.42e-07) CAGAGAATGGGAAGAAGGATC 0.502 0 98.0 88.0 92.0 15 43483811.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant AF082569 CCDS10092.1 15q14-q15 2008-07-18 ENSG00000166946 ENSG00000166946 23582.0 23582.0 1587.0 protein-coding gene gene with protein product """D-type cyclin-interacting protein 1"", ""MAID protein"", ""HHM Protein"", ""grap2 cyclin interacting protein""" 607089 10801854 Standard NM_012142 NM_012142 Approved DIP1, GCIP uc001zqv.3 O95273 OTTHUMG00000130703 ENST00000300213.4:c.798G>C 15.__UNKNOWN__:g.43483811G>C A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9 __UNKNOWN__ CCDS10092.1 CCNDBP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253203.1 + ENST00000300213.4 Silent SNP PCPG-TCGA-WB-A80P-Normal-SM-5EMNP ZNF385D 79750 broad.mit.edu 37 3 21462776 21462776 + Missense_Mutation SNP G G A TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr3:21462776G>A ENST00000281523.2 - 8.0 1636 c.1118C>T c.(1117-1119)cCg>cTg p.P373L NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 373.0 nucleus (GO:0005634) nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46.0 CAGGAGTGCCGGAGGAAGCGC 0.562 0 57.0 55.0 55.0 3 21462776.0 2203.0 4300.0 6503.0 SO:0001583 missense BC007212 CCDS2636.1 3p24.3 2012-10-05 2007-12-06 2007-12-06 ENSG00000151789 ENSG00000151789 79750.0 79750.0 26191.0 protein-coding gene gene with protein product """zinc finger protein 659""" ZNF659 12477932 Standard NM_024697 NM_024697 Approved FLJ22419 uc003cce.3 Q9H6B1 OTTHUMG00000130484 ENST00000281523.2:c.1118C>T 3.__UNKNOWN__:g.21462776G>A ENSP00000281523:p.Pro373Leu __UNKNOWN__ CCDS2636.1 . . . . . . . . . . G 15.04 2.714033 0.48622 . . ENSG00000151789 ENST00000281523 T 0.34072 1.38 5.8 4.91 0.64330 . 0.299818 0.37715 N 0.001979 T 0.29256 0.0728 L 0.39245 1.2 0.21445 N 0.999689 B 0.33857 0.429 B 0.17433 0.018 T 0.21484 -1.0244 10 0.72032 D 0.01 -39.3112 16.1282 0.81408 0.0:0.0:0.8653:0.1347 . 373 Q9H6B1 Z385D_HUMAN L 373 ENSP00000281523:P373L ENSP00000281523:P373L P - 2 0 ZNF385D 21437780 1.000000 0.71417 0.141000 0.22245 0.918000 0.54935 4.473000 0.60196 1.412000 0.46977 0.557000 0.71058 CCG ZNF385D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252884.1 - ENST00000281523.2 Missense_Mutation SNP PCPG-TCGA-WB-A80P-Normal-SM-5EMNP KIR3DL1 3811 broad.mit.edu 37 19 55341599 55341599 + Missense_Mutation SNP G G A TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr19:55341599G>A ENST00000391728.4 + 9.0 1237 c.1204G>A c.(1204-1206)Gat>Aat p.D402N KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D402N|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D385N|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D307N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D385N NM_013289.2 NP_037421.2 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 402.0 immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) HLA-B specific inhibitory MHC class I receptor activity (GO:0030109) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11.0 GBM - Glioblastoma multiforme(193;0.0192) CGCACAGTTGGATCACTGCGT 0.512 0 269.0 244.0 253.0 19 55341599.0 2171.0 4171.0 6342.0 SO:0001583 missense L41269 CCDS42621.1 19q13.4 2014-05-22 ENSG00000167633 ENSG00000167633 3811.0 3811.0 """Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 6338.0 protein-coding gene gene with protein product 604946 KIR 7716543, 7749980 Standard NM_013289 NM_013289 Approved cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2 P43629 OTTHUMG00000065933 ENST00000391728.4:c.1204G>A 19.__UNKNOWN__:g.55341599G>A ENSP00000375608:p.Asp402Asn O43473|Q14946|Q16541 __UNKNOWN__ CCDS42621.1 . . . . . . . . . . - 4.019 0.000930 0.07819 . . ENSG00000167633 ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178 T;T;T;T;T 0.00470 7.3;7.2;7.3;7.2;7.28 0.719 -0.453 0.12201 . . . . . T 0.00300 0.0009 L 0.31476 0.935 0.09310 N 1 B;B;B 0.10296 0.003;0.003;0.003 B;B;B 0.14578 0.011;0.008;0.007 T 0.35051 -0.9804 8 0.42905 T 0.14 . . . . . 385;307;402 Q15702;Q14946;P43629 .;.;KI3L1_HUMAN N 402;385;380;402;385;307 ENSP00000443350:D402N;ENSP00000442355:D385N;ENSP00000375608:D402N;ENSP00000326868:D385N;ENSP00000350901:D307N ENSP00000326868:D385N D + 1 0 KIR3DL1 60033411 0.003000 0.15002 0.001000 0.08648 0.025000 0.11179 0.526000 0.22971 -0.130000 0.11599 0.184000 0.17185 GAT KIR3DL1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000141238.1 + ENST00000391728.4 Missense_Mutation SNP PCPG-TCGA-WB-A80P-Normal-SM-5EMNP RP11-640M9.2 0 broad.mit.edu 37 1 144598589 144598589 + RNA SNP C C T TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr1:144598589C>T ENST00000419820.1 + 0.0 517 CGTCCCTTACCGTCCTCCTGA 0.547 0 ENST00000419820.1: 1.__UNKNOWN__:g.144598589C>T __UNKNOWN__ RP11-640M9.2-011 KNOWN basic processed_transcript pseudogene OTTHUMT00000038365.1 + ENST00000419820.1 RNA SNP PCPG-TCGA-WB-A80P-Normal-SM-5EMNP NR0B2 8431 broad.mit.edu 37 1 27238482 27238482 + Missense_Mutation SNP C C A TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr1:27238482C>A ENST00000254227.3 - 2.0 653 c.628G>T c.(628-630)Gcc>Tcc p.A210S NM_021969.2 NP_068804.1 Q15466 NR0B2_HUMAN nuclear receptor subfamily 0, group B, member 2 210.0 Ligand-binding. {ECO:0000250}. cholesterol metabolic process (GO:0008203)|gene expression (GO:0010467)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|transcription initiation from RNA polymerase II promoter (GO:0006367) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234) DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714) NS(1)|large_intestine(1)|lung(3) 5.0 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) CGGCCTTGGGCTGCTGGGCAC 0.632 0 100.0 102.0 101.0 1 27238482.0 2203.0 4300.0 6503.0 SO:0001583 missense AF044316 CCDS291.1 1p36.1 2013-01-16 ENSG00000131910 ENSG00000131910 8431.0 8431.0 """Nuclear hormone receptors""" 7961.0 protein-coding gene gene with protein product 604630 9603951 Standard NM_021969 Approved SHP uc001bnf.3 Q15466 OTTHUMG00000004231 ENST00000254227.3:c.628G>T 1.__UNKNOWN__:g.27238482C>A ENSP00000254227:p.Ala210Ser F1D8P5|Q5QP36 __UNKNOWN__ CCDS291.1 . . . . . . . . . . C 11.40 1.626583 0.28978 . . ENSG00000131910 ENST00000254227 D 0.96104 -3.91 6.04 5.12 0.69794 Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2); 0.392944 0.32190 N 0.006444 D 0.86447 0.5935 N 0.02011 -0.69 0.25419 N 0.988289 B 0.06786 0.001 B 0.04013 0.001 T 0.77490 -0.2568 10 0.41790 T 0.15 -14.4401 12.746 0.57281 0.0:0.9237:0.0:0.0763 . 210 Q15466 NR0B2_HUMAN S 210 ENSP00000254227:A210S ENSP00000254227:A210S A - 1 0 NR0B2 27111069 0.995000 0.38212 1.000000 0.80357 0.656000 0.38851 3.334000 0.52097 1.539000 0.49286 0.561000 0.74099 GCC NR0B2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000012185.1 - ENST00000254227.3 Missense_Mutation SNP PCPG-TCGA-WB-A80P-Normal-SM-5EMNP RP1L1 94137 broad.mit.edu 37 8 10480359 10480359 + Missense_Mutation SNP C C T TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr8:10480359C>T ENST00000382483.3 - 2.0 576 c.353G>A c.(352-354)cGg>cAg p.R118Q RP1L1_ENST00000329335.3_5'UTR NM_178857.5 NP_849188.4 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 118.0 Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}. cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601) axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750) 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) 148.0 COAD - Colon adenocarcinoma(149;0.0811) CTCCTGTGGCCGGCCTGGTCC 0.637 0 16.0 17.0 17.0 8 10480359.0 1943.0 4113.0 6056.0 SO:0001583 missense AY168346 CCDS43708.1 8p23.1 2011-12-06 ENSG00000183638 ENSG00000183638 94137.0 94137.0 15946.0 protein-coding gene gene with protein product 608581 12634863 Standard NM_178857 Approved DCDC4B uc003wtc.3 Q8IWN7 OTTHUMG00000163806 ENST00000382483.3:c.353G>A 8.__UNKNOWN__:g.10480359C>T ENSP00000371923:p.Arg118Gln Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2 __UNKNOWN__ CCDS43708.1 . . . . . . . . . . c 9.610 1.131145 0.21041 . . ENSG00000183638 ENST00000382483 T 0.04603 3.59 4.32 -2.03 0.07365 . . . . . T 0.01870 0.0059 N 0.08118 0 0.09310 N 1 B 0.28291 0.206 B 0.17979 0.02 T 0.46428 -0.9192 9 0.24483 T 0.36 -0.6815 2.4179 0.04440 0.1121:0.383:0.1216:0.3833 . 118 A6NKC6 . Q 118 ENSP00000371923:R118Q ENSP00000371923:R118Q R - 2 0 RP1L1 10517769 0.000000 0.05858 0.000000 0.03702 0.139000 0.21198 -0.567000 0.05916 -0.382000 0.07870 0.556000 0.70494 CGG RP1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000375673.1 - ENST00000382483.3 Missense_Mutation SNP PCPG-TCGA-WB-A80P-Normal-SM-5EMNP ITIH1 3697 broad.mit.edu 37 3 52812034 52812034 + Splice_Site SNP G G A TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr3:52812034G>A ENST00000273283.2 + 2.0 162 c.e2+1 ITIH1_ENST00000542827.1_Splice_Site NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 hyaluronan metabolic process (GO:0030212) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52.0 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TGTGGACACCGTGAGTAAGAG 0.562 0 118.0 108.0 112.0 3 52812034.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant CCDS2864.1, CCDS54595.1 3p21.1 2011-10-26 2011-10-26 ENSG00000055957 ENSG00000055957 3697.0 3697.0 6166.0 protein-coding gene gene with protein product 147270 """inter-alpha (globulin) inhibitor, H1 polypeptide""" 1385302, 10100603 Standard NM_002215 NM_002215 Approved H1P, IATIH, ITIH uc003dfs.3 P19827 OTTHUMG00000150312 ENST00000273283.2:c.138+1G>A 3.__UNKNOWN__:g.52812034G>A A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1 __UNKNOWN__ CCDS2864.1 . . . . . . . . . . G 16.58 3.164318 0.57476 . . ENSG00000055957 ENST00000542827;ENST00000273283 . . . 4.72 3.84 0.44239 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 10.7005 0.45924 0.0916:0.0:0.9084:0.0 . . . . . -1 . . . + . . ITIH1 52787074 1.000000 0.71417 0.999000 0.59377 0.897000 0.52465 2.924000 0.48876 1.329000 0.45376 0.655000 0.94253 . ITIH1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317522.1 Intron + ENST00000273283.2 Splice_Site SNP PCPG-TCGA-WB-A80P-Normal-SM-5EMNP CSAG4 100130935 bcgsc.ca 37 X 151896589 151896589 + RNA SNP C C A TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chrX:151896589C>A ENST00000361201.4 - 0.0 351 NR_073432.1 CSAG family, member 4 (pseudogene) p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5.0 GGTTGTTGGACAATGGGCTGG 0.557 1 Substitution - Missense(1) kidney(1) BC013171 Xq28 2014-01-21 2012-04-19 ENSG00000242599 ENSG00000242599 100130935.0 100130935.0 20923.0 pseudogene pseudogene """CSAG family, member 4""" Standard NR_073432 Approved OTTHUMG00000022646 ENST00000361201.4: X.__UNKNOWN__:g.151896589C>A __UNKNOWN__ CSAG4-001 KNOWN basic processed_transcript pseudogene OTTHUMT00000058758.2 - ENST00000361201.4 RNA SNP PCPG-TCGA-WB-A80P-Normal-SM-5EMNP Unknown 0 bcgsc.ca 37 20 6195252 6195252 + RNA SNP C C T rs6133298 TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr20:6195252C>T FERMT1 (91061 upstream) : AL109618.1 (14188 downstream) CCAGGCAAGGCGTAGGTTAAT 0.438 0 SO:0001628 intergenic_variant 20.__UNKNOWN__:g.6195252C>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-WB-A80P-Normal-SM-5EMNP SULF1 23213 bcgsc.ca 37 8 70476382 70476382 + Missense_Mutation SNP G G A TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr8:70476382G>A ENST00000260128.4 + 5.0 889 c.172G>A c.(172-174)Ggg>Agg p.G58R SULF1_ENST00000419716.3_Splice_Site_p.G58R|SULF1_ENST00000402687.4_Splice_Site_p.G58R|SULF1_ENST00000458141.2_Splice_Site_p.G58R NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 58.0 apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449) 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) 52.0 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TGTGGAGCTGGGTGAGACACT 0.443 0 130.0 123.0 126.0 8 70476382.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AB029000 CCDS6204.1 8q13.2 2014-09-11 ENSG00000137573 ENSG00000137573 23213.0 23213.0 20391.0 protein-coding gene gene with protein product 610012 12368295 Standard NM_015170 NM_015170 Approved KIAA1077, SULF-1 uc003xyd.2 Q8IWU6 OTTHUMG00000164466 ENST00000260128.4:c.172+1G>A 8.__UNKNOWN__:g.70476382G>A Q86YV8|Q8NCA2|Q9UPS5 __UNKNOWN__ CCDS6204.1 . . . . . . . . . . G 34 5.375420 0.95923 . . ENSG00000137573 ENST00000458141;ENST00000260128;ENST00000529134;ENST00000402687;ENST00000419716;ENST00000528783;ENST00000525999 D;D;D;D;D;T;D 0.97850 -4.57;-4.57;-3.24;-4.57;-4.57;-0.19;-4.57 6.06 6.06 0.98353 Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1); 0.000000 0.85682 D 0.000000 D 0.98979 0.9652 M 0.88310 2.945 0.80722 D 1 D 0.76494 0.999 D 0.76071 0.987 D 0.99160 1.0861 10 0.62326 D 0.03 . 20.6243 0.99512 0.0:0.0:1.0:0.0 . 58 Q8IWU6 SULF1_HUMAN R 58 ENSP00000403040:G58R;ENSP00000260128:G58R;ENSP00000432178:G58R;ENSP00000385704:G58R;ENSP00000390315:G58R;ENSP00000436949:G58R;ENSP00000431753:G58R ENSP00000260128:G58R G + 1 0 SULF1 70638936 1.000000 0.71417 1.000000 0.80357 0.946000 0.59487 8.760000 0.91671 2.879000 0.98667 0.650000 0.86243 GGG SULF1-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378885.2 Missense_Mutation + ENST00000260128.4 Splice_Site SNP PCPG-TCGA-WB-A80P-Normal-SM-5EMNP RPN2 6185 hgsc.bcm.edu 37 20 35858461 35858461 + Missense_Mutation SNP A A G TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 A A . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr20:35858461A>G ENST00000373622.5 + 12.0 1680 c.1484A>G c.(1483-1485)cAg>cGg p.Q495R RPN2_ENST00000470352.1_3'UTR|RPN2_ENST00000237530.6_Splice_Site_p.Q527R NM_001135771.1 NP_001129243.1 P04844 RPN2_HUMAN ribophorin II 527.0 aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791) ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757) 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) 24.0 Myeloproliferative disorder(115;0.00878) CAGGAAATTCAGGTATATCCC 0.463 0 94.0 92.0 92.0 20 35858461.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant Y00282 CCDS13291.1, CCDS46599.1 20q12-q13.1 2013-03-06 ENSG00000118705 ENSG00000118705 6185.0 6185.0 10382.0 protein-coding gene gene with protein product """oligosaccharyltransferase complex subunit (non-catalytic)""" 180490 Standard NM_002951 NM_002951 Approved SWP1, RPNII, RIBIIR, RPN-II uc002xgp.3 P04844 OTTHUMG00000032409 ENST00000373622.5:c.1485+1A>G 20.__UNKNOWN__:g.35858461A>G Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1 __UNKNOWN__ CCDS46599.1 . . . . . . . . . . A 28.7 4.946443 0.92593 . . ENSG00000118705 ENST00000237530;ENST00000373622;ENST00000397161;ENST00000373623;ENST00000437329 T;T;T 0.43294 0.95;0.95;1.0 5.65 5.65 0.86999 . 0.107185 0.64402 D 0.000003 T 0.46288 0.1385 L 0.50333 1.59 0.80722 D 1 P;P 0.45044 0.849;0.759 B;P 0.49853 0.345;0.624 T 0.24012 -1.0172 10 0.19147 T 0.46 -12.3374 13.8738 0.63638 1.0:0.0:0.0:0.0 . 495;527 Q5JYR6;P04844 .;RPN2_HUMAN R 527;495;66;51;66 ENSP00000237530:Q527R;ENSP00000362724:Q495R;ENSP00000409580:Q66R ENSP00000237530:Q527R Q + 2 0 RPN2 35291875 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 8.445000 0.90326 2.371000 0.80710 0.533000 0.62120 CAG RPN2-003 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000079078.1 Missense_Mutation + ENST00000373622.5 Splice_Site SNP PCPG-TCGA-WB-A80P-Normal-SM-5EMNP MGAT2 4247 broad.mit.edu 37 14 50088617 50088617 + Missense_Mutation SNP A A G TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr14:50088617A>G ENST00000305386.2 + 1.0 1129 c.631A>G c.(631-633)Atc>Gtc p.I211V RP11-649E7.5_ENST00000555043.1_RNA NM_002408.3 NP_002399.1 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 211.0 cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279) Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020) alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246) cervix(1)|endometrium(3)|large_intestine(1)|lung(6) 11.0 all_epithelial(31;0.0021)|Breast(41;0.0124) ATTGGGGTGCATCAATGCTGA 0.493 0 110.0 107.0 108.0 14 50088617.0 2203.0 4300.0 6503.0 SO:0001583 missense U15128 CCDS9690.1 14q21 2013-02-25 ENSG00000168282 ENSG00000168282 4247.0 4247.0 2.4.1.143 """Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases""" 7045.0 protein-coding gene gene with protein product 602616 7635144 Standard NM_002408 NM_002408 Approved GNT-II uc001wwr.3 Q10469 OTTHUMG00000140271 ENST00000305386.2:c.631A>G 14.__UNKNOWN__:g.50088617A>G ENSP00000307423:p.Ile211Val B3KPC5|B3KQM0 __UNKNOWN__ CCDS9690.1 . . . . . . . . . . A 13.35 2.210774 0.39102 . . ENSG00000168282 ENST00000305386;ENST00000504161 D 0.85955 -2.05 6.0 3.48 0.39840 . 0.099783 0.64402 D 0.000003 T 0.74772 0.3760 L 0.33137 0.985 0.34259 D 0.679675 B 0.21452 0.056 B 0.25405 0.06 T 0.70335 -0.4900 10 0.17369 T 0.5 -12.8012 8.3401 0.32239 0.6439:0.2364:0.0:0.1197 . 211 Q10469 MGAT2_HUMAN V 211;217 ENSP00000307423:I211V ENSP00000307423:I211V I + 1 0 MGAT2 49158367 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 5.808000 0.69165 1.063000 0.40649 0.454000 0.30748 ATC MGAT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276807.1 + ENST00000305386.2 Missense_Mutation SNP PCPG-TCGA-WB-A80Q-Normal-SM-5EMLH SAT1 6303 broad.mit.edu 37 X 23803819 23803819 + Missense_Mutation SNP G G A TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chrX:23803819G>A ENST00000379270.4 + 6.0 541 c.362G>A c.(361-363)cGc>cAc p.R121H SAT1_ENST00000379254.1_Missense_Mutation_p.R93H|SAT1_ENST00000489394.1_3'UTR NM_002970.2 NP_002961.1 Q9H2B4 S26A1_HUMAN spermidine/spermine N1-acetyltransferase 1 0.0 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116) breast(1)|endometrium(3)|kidney(3)|lung(3) 10.0 ATGAGGTGTCGCTGCAGCAGC 0.418 0 117.0 110.0 113.0 X 23803819.0 2203.0 4300.0 6503.0 SO:0001583 missense M55580 CCDS14207.1 Xp22.1 2011-11-16 2006-08-24 2006-08-24 ENSG00000130066 ENSG00000130066 6303.0 6303.0 2.3.1.57 10540.0 protein-coding gene gene with protein product """diamine N-acetyltransferase 1""" 313020 """spermidine/spermine N1-acetyltransferase""" SAT 1985966, 1417826 Standard NM_002970 NM_002970 Approved SSAT uc004dau.3 P21673 OTTHUMG00000021256 ENST00000379270.4:c.362G>A X.__UNKNOWN__:g.23803819G>A ENSP00000368572:p.Arg121His A8K9N2|Q7Z5R3|Q96BK0 __UNKNOWN__ CCDS14207.1 . . . . . . . . . . G 12.75 2.031733 0.35797 . . ENSG00000130066 ENST00000379270;ENST00000379254 T;T 0.42131 0.98;0.98 5.62 5.62 0.85841 GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2); . . . . T 0.35098 0.0920 N 0.25332 0.735 0.80722 D 1 B 0.06786 0.001 B 0.06405 0.002 T 0.06570 -1.0819 9 0.46703 T 0.11 . 18.6745 0.91524 0.0:0.0:1.0:0.0 . 121 P21673 SAT1_HUMAN H 121;93 ENSP00000368572:R121H;ENSP00000368556:R93H ENSP00000368556:R93H R + 2 0 SAT1 23713740 1.000000 0.71417 1.000000 0.80357 0.807000 0.45602 9.476000 0.97823 2.354000 0.79902 0.594000 0.82650 CGC SAT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056056.1 + ENST00000379270.4 Missense_Mutation SNP PCPG-TCGA-WB-A80Q-Normal-SM-5EMLH GPRIN3 285513 broad.mit.edu 37 4 90170128 90170128 + Silent SNP G G C TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr4:90170128G>C ENST00000609438.1 - 2.0 1652 c.1134C>G c.(1132-1134)gcC>gcG p.A378A GPRIN3_ENST00000333209.4_Silent_p.A378A NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 378.0 A -> V (in dbSNP:rs6811370). breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36.0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) ACTCCTGGGGGGCTAGCGTGC 0.562 0 63.0 61.0 62.0 4 90170128.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK124616 CCDS34030.1 4q22.1 2006-08-24 ENSG00000185477 285513.0 285513.0 27733.0 protein-coding gene gene with protein product 611241 15488195 Standard NM_198281 NM_198281 Approved GRIN3, FLJ42625 uc003hsm.1 Q6ZVF9 ENST00000609438.1:c.1134C>G 4.__UNKNOWN__:g.90170128G>C Q8IVE4 __UNKNOWN__ CCDS34030.1 GPRIN3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000363540.2 - ENST00000609438.1 Silent SNP PCPG-TCGA-WB-A80Q-Normal-SM-5EMLH PDE4DIP 9659 broad.mit.edu 37 1 144879387 144879387 + Nonsense_Mutation SNP G G A rs149886351 TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr1:144879387G>A ENST00000530740.1 - 30.0 4509 c.4471C>T c.(4471-4473)Cga>Tga p.R1491* PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R1355*|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R1311*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.R1491*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R1355* Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1355.0 cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) p.R1355*(2) 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) 176.0 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATGTCCTTTCGTAGGACCAAG 0.493 T PDGFRB MPD Dom yes 1 1q12 9659.0 phosphodiesterase 4D interacting protein (myomegalin) L 2 Substitution - Nonsense(2) kidney(2) 199.0 221.0 213.0 1 144879387.0 2203.0 4299.0 6502.0 SO:0001587 stop_gained AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659.0 9659.0 15580.0 protein-coding gene gene with protein product """myomegalin""" 608117 """cardiomyopathy associated 2""" CMYA2 9455484, 11134006 Standard NM_022359 NM_022359 Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.4471C>T 1.__UNKNOWN__:g.144879387G>A ENSP00000435654:p.Arg1491* A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 __UNKNOWN__ . . . . . . . . . . G 39 7.892681 0.98548 . . ENSG00000178104 ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359 . . . 5.08 0.624 0.17659 . . . . . . . . . . . 0.09310 N 1 . . . . . . . . . . 0.02654 T 1 . 5.3363 0.15959 0.1585:0.0:0.4957:0.3458 . . . . X 1311;1355;1355;1491;1491 . ENSP00000327209:R1311X R - 1 2 PDE4DIP 143590744 0.003000 0.15002 0.000000 0.03702 0.051000 0.14879 1.309000 0.33539 -0.042000 0.13535 -0.131000 0.14894 CGA PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000384663.2 - ENST00000530740.1 Nonsense_Mutation SNP PCPG-TCGA-WB-A80Q-Normal-SM-5EMLH DNMT3A 1788 broad.mit.edu 37 2 25470489 25470489 + Missense_Mutation SNP T T G TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr2:25470489T>G ENST00000402667.1 - 3.0 463 c.316A>C c.(316-318)Atg>Ctg p.M106L DNMT3A_ENST00000264709.3_Missense_Mutation_p.M329L|DNMT3A_ENST00000380746.4_Missense_Mutation_p.M140L|DNMT3A_ENST00000321117.5_Missense_Mutation_p.M329L Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 329.0 C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283) chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021.0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGAACCACATGACCCAGCGG 0.617 """Mis, F, N, S""" AML Rec yes 2 2p23 1788.0 DNA (cytosine-5-)-methyltransferase 3 alpha L 0 139.0 149.0 145.0 2 25470489.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS1718.2, CCDS33157.1, CCDS46232.1 2p23 2014-09-17 ENSG00000119772 ENSG00000119772 1788.0 1788.0 2978.0 protein-coding gene gene with protein product 602769 9662389, 10433969 Standard NM_022552 NM_175630 Approved uc002rgc.4 Q9Y6K1 OTTHUMG00000094777 ENST00000402667.1:c.316A>C 2.__UNKNOWN__:g.25470489T>G ENSP00000384237:p.Met106Leu E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9 __UNKNOWN__ . . . . . . . . . . T 17.75 3.466928 0.63625 . . ENSG00000119772 ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667 T;T;T;T 0.68765 -0.35;-0.35;-0.35;-0.35 4.97 4.97 0.65823 PWWP (3); 0.040150 0.85682 D 0.000000 T 0.62466 0.2430 L 0.51422 1.61 0.80722 D 1 P;B 0.42785 0.79;0.292 B;B 0.41440 0.357;0.165 T 0.64537 -0.6384 10 0.41790 T 0.15 -12.528 13.6031 0.62031 0.0:0.0:0.0:1.0 . 329;140 Q9Y6K1;E9PEB8 DNM3A_HUMAN;. L 140;329;329;106 ENSP00000370122:M140L;ENSP00000324375:M329L;ENSP00000264709:M329L;ENSP00000384237:M106L ENSP00000264709:M329L M - 1 0 DNMT3A 25323993 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 3.179000 0.50887 2.088000 0.63022 0.379000 0.24179 ATG DNMT3A-013 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000325149.2 - ENST00000402667.1 Missense_Mutation SNP PCPG-TCGA-WB-A80Q-Normal-SM-5EMLH LGMN 5641 broad.mit.edu 37 14 93182496 93182496 + Missense_Mutation SNP C C T TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr14:93182496C>T ENST00000557434.1 - 5.0 574 c.389G>A c.(388-390)gGc>gAc p.G130D LGMN_ENST00000555699.1_Missense_Mutation_p.G130D|LGMN_ENST00000393218.2_Missense_Mutation_p.G130D|LGMN_ENST00000334869.4_Missense_Mutation_p.G130D Q99538 LGMN_HUMAN legumain 130.0 antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359) apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764) cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18.0 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) CAGGACTTTGCCGGATCCTAT 0.468 0 174.0 151.0 159.0 14 93182496.0 2203.0 4300.0 6503.0 SO:0001583 missense D55696 CCDS9904.1 14q32.12 2011-04-08 2002-01-18 ENSG00000100600 ENSG00000100600 5641.0 5641.0 9472.0 protein-coding gene gene with protein product 602620 """protease, cysteine, 1 (legumain)""" PRSC1 8893817, 9065484 Standard NM_005606 NM_001008530 Approved LGMN1 uc001yaw.3 Q99538 ENST00000557434.1:c.389G>A 14.__UNKNOWN__:g.93182496C>T ENSP00000452572:p.Gly130Asp O00123|Q86TV2|Q86TV3|Q9BTY1 __UNKNOWN__ . . . . . . . . . . C 19.92 3.916451 0.73098 . . ENSG00000100600 ENST00000555699;ENST00000334869;ENST00000557434;ENST00000334864;ENST00000262004;ENST00000393218;ENST00000539531;ENST00000535855;ENST00000553802 T;T;T;T;T 0.50813 0.76;0.73;0.78;0.73;0.82 5.51 5.51 0.81932 . 0.200813 0.52532 D 0.000069 T 0.79505 0.4457 H 0.95079 3.62 0.80722 D 1 D;D;D 0.76494 0.999;0.999;0.998 D;D;D 0.87578 0.998;0.987;0.996 D 0.85224 0.1028 10 0.87932 D 0 -26.1505 19.3815 0.94540 0.0:1.0:0.0:0.0 . 130;130;130 Q99538;Q86TV2;Q86TV3 LGMN_HUMAN;.;. D 130;130;130;130;130;130;107;95;121 ENSP00000451861:G130D;ENSP00000334052:G130D;ENSP00000452572:G130D;ENSP00000376911:G130D;ENSP00000450854:G121D ENSP00000262004:G130D G - 2 0 LGMN 92252249 1.000000 0.71417 0.913000 0.36048 0.382000 0.30200 5.340000 0.65958 2.765000 0.95021 0.655000 0.94253 GGC LGMN-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000412287.1 - ENST00000557434.1 Missense_Mutation SNP PCPG-TCGA-WB-A80Q-Normal-SM-5EMLH EIF3G 8666 broad.mit.edu 37 19 10229616 10229616 + Silent SNP G G A TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr19:10229616G>A ENST00000253108.4 - 4.0 210 c.168C>T c.(166-168)ccC>ccT p.P56P EIF3G_ENST00000587168.1_5'UTR NM_003755.3 NP_003746.2 eukaryotic translation initiation factor 3, subunit G central_nervous_system(1)|lung(1) 2.0 OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05) TGACCTCCTTGGGAGGCGGCA 0.582 Colon(124;1100 1638 3822 4510 4876) 0 93.0 71.0 78.0 19 10229616.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U96074 CCDS12227.1 19p13.2 2013-02-12 2007-07-27 2007-07-27 ENSG00000130811 8666.0 8666.0 """RNA binding motif (RRM) containing""" 3274.0 protein-coding gene gene with protein product 603913 """eukaryotic translation initiation factor 3, subunit 4 delta, 44kDa""" EIF3S4 9822659 Standard NM_003755 Approved eIF3-delta, eIF3-p44, eIF3g uc002mnd.3 O75821 ENST00000253108.4:c.168C>T 19.__UNKNOWN__:g.10229616G>A __UNKNOWN__ CCDS12227.1 EIF3G-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451144.1 - ENST00000253108.4 Silent SNP PCPG-TCGA-WB-A80Q-Normal-SM-5EMLH ADAM20 8748 broad.mit.edu 37 14 70989772 70989772 + Missense_Mutation SNP T T A TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr14:70989772T>A ENST00000256389.3 - 2.0 2097 c.1853A>T c.(1852-1854)aAt>aTt p.N618I RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 568.0 Cys-rich. binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27.0 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TACTCCCACATTTTCACACTG 0.453 0 167.0 102.0 124.0 14 70989772.0 2203.0 4300.0 6503.0 SO:0001583 missense AF029899 CCDS32111.1 14q24.2 2012-04-30 2005-08-18 ENSG00000134007 ENSG00000134007 8748.0 8748.0 """ADAM metallopeptidase domain containing""" 199.0 protein-coding gene gene with protein product 603712 """a disintegrin and metalloproteinase domain 20""" 9469942 Standard NM_003814 Approved uc001xme.3 O43506 OTTHUMG00000167548 ENST00000256389.3:c.1853A>T 14.__UNKNOWN__:g.70989772T>A ENSP00000256389:p.Asn618Ile Q6GTZ1|Q9UKJ9 __UNKNOWN__ CCDS32111.1 . . . . . . . . . . T 16.29 3.082481 0.55861 . . ENSG00000134007 ENST00000256389 T 0.24151 1.87 4.66 3.52 0.40303 ADAM, cysteine-rich (2); 0.168845 0.27109 N 0.020888 T 0.55816 0.1944 M 0.91872 3.25 0.25498 N 0.987588 D 0.89917 1.0 D 0.83275 0.996 T 0.53514 -0.8428 10 0.87932 D 0 . 9.849 0.41046 0.0:0.083:0.0:0.917 . 568 O43506 ADA20_HUMAN I 618 ENSP00000256389:N618I ENSP00000256389:N618I N - 2 0 ADAM20 70059525 1.000000 0.71417 0.982000 0.44146 0.617000 0.37484 4.364000 0.59479 0.744000 0.32741 0.455000 0.32223 AAT ADAM20-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395004.2 - ENST00000256389.3 Missense_Mutation SNP PCPG-TCGA-WB-A80Q-Normal-SM-5EMLH NHLRC2 374354 broad.mit.edu 37 10 115661652 115661652 + Missense_Mutation SNP C C A TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr10:115661652C>A ENST00000369301.3 + 7.0 1579 c.1367C>A c.(1366-1368)cCc>cAc p.P456H NM_198514.3 NP_940916.2 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 456.0 breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15.0 Epithelial(162;0.017)|all cancers(201;0.0187) GAAAGAGACCCCATGGTAATG 0.453 0 83.0 84.0 84.0 10 115661652.0 2203.0 4300.0 6503.0 SO:0001583 missense AK090631 CCDS7585.1 10q26.11 2006-03-31 ENSG00000196865 ENSG00000196865 374354.0 374354.0 24731.0 protein-coding gene gene with protein product 12477932 Standard NM_198514 NM_198514 Approved FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115 uc001lax.2 Q8NBF2 OTTHUMG00000019078 ENST00000369301.3:c.1367C>A 10.__UNKNOWN__:g.115661652C>A ENSP00000358307:p.Pro456His Q8N1H1|Q8N5A6 __UNKNOWN__ CCDS7585.1 . . . . . . . . . . C 23.8 4.463737 0.84425 . . ENSG00000196865 ENST00000369301 T 0.50813 0.73 5.62 5.62 0.85841 Six-bladed beta-propeller, TolB-like (1); 0.000000 0.85682 D 0.000000 T 0.73776 0.3630 M 0.87900 2.915 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.76940 -0.2773 10 0.54805 T 0.06 -12.7339 17.8573 0.88769 0.0:1.0:0.0:0.0 . 456 Q8NBF2 NHLC2_HUMAN H 456 ENSP00000358307:P456H ENSP00000358307:P456H P + 2 0 NHLRC2 115651642 1.000000 0.71417 0.999000 0.59377 0.633000 0.38033 7.786000 0.85741 2.634000 0.89283 0.655000 0.94253 CCC NHLRC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050446.1 + ENST00000369301.3 Missense_Mutation SNP PCPG-TCGA-WB-A80Q-Normal-SM-5EMLH PLEKHM2 23207 broad.mit.edu 37 1 16046372 16046372 + Silent SNP C C G TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr1:16046372C>G ENST00000375799.3 + 6.0 836 c.609C>G c.(607-609)acC>acG p.T203T PLEKHM2_ENST00000375793.2_Silent_p.T203T NM_015164.2 NP_055979.2 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 2 203.0 Interaction with KIF5B. Golgi organization (GO:0007030) cytoplasm (GO:0005737) kinesin binding (GO:0019894) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 12.0 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) TCACCTCCACCAACCTGGAGT 0.557 0 55.0 55.0 55.0 1 16046372.0 2022.0 4181.0 6203.0 SO:0001819 synonymous_variant AB020649 CCDS44063.1 1p36.13 2013-01-10 ENSG00000116786 ENSG00000116786 23207.0 23207.0 """Pleckstrin homology (PH) domain containing""" 29131.0 protein-coding gene gene with protein product 609613 10048485 Standard NM_015164 NM_015164 Approved KIAA0842 uc010obo.2 Q8IWE5 OTTHUMG00000003062 ENST00000375799.3:c.609C>G 1.__UNKNOWN__:g.16046372C>G O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7 __UNKNOWN__ CCDS44063.1 PLEKHM2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000008463.1 + ENST00000375799.3 Silent SNP PCPG-TCGA-WB-A80Q-Normal-SM-5EMLH KCNJ16 3773 broad.mit.edu 37 17 68128236 68128236 + Missense_Mutation SNP A A G TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr17:68128236A>G ENST00000589377.1 + 2.0 171 c.8A>G c.(7-9)tAt>tGt p.Y3C KCNJ16_ENST00000283936.1_Missense_Mutation_p.Y3C|KCNJ16_ENST00000585558.1_Missense_Mutation_p.Y38C|KCNJ16_ENST00000586462.1_Missense_Mutation_p.Y42C|KCNJ16_ENST00000392670.1_Missense_Mutation_p.Y3C|KCNJ16_ENST00000392671.1_Missense_Mutation_p.Y3C NM_001270422.1 NP_001257351.1 Q9NPI9 KCJ16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 3.0 potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268) plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) inward rectifier potassium channel activity (GO:0005242) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32.0 Breast(10;2.96e-09) AGAATGAGCTATTACGGCAGC 0.428 0 53.0 48.0 50.0 17 68128236.0 2203.0 4300.0 6503.0 SO:0001583 missense AF153815 CCDS11687.1, CCDS74141.1 17q24.3 2011-07-05 ENSG00000153822 3773.0 3773.0 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying""" 6262.0 protein-coding gene gene with protein product 605722 11240146, 16382105 Standard NM_018658 NM_018658 Approved Kir5.1, BIR9 uc002jio.4 Q9NPI9 ENST00000589377.1:c.8A>G 17.__UNKNOWN__:g.68128236A>G ENSP00000465967:p.Tyr3Cys __UNKNOWN__ CCDS11687.1 . . . . . . . . . . A 14.51 2.555751 0.45487 . . ENSG00000153822 ENST00000283936;ENST00000392671;ENST00000392670 D;D;D 0.90324 -2.65;-2.65;-2.65 5.99 4.9 0.64082 . 0.494637 0.20141 N 0.098363 D 0.82797 0.5115 N 0.24115 0.695 0.36786 D 0.884605 P;P 0.52463 0.953;0.758 B;B 0.39971 0.315;0.161 T 0.82633 -0.0361 9 . . . . 11.8814 0.52578 0.7225:0.2775:0.0:0.0 . 3;3 A8K434;Q9NPI9 .;IRK16_HUMAN C 3 ENSP00000283936:Y3C;ENSP00000376439:Y3C;ENSP00000376438:Y3C . Y + 2 0 KCNJ16 65639831 0.580000 0.26733 0.998000 0.56505 0.597000 0.36814 1.788000 0.38714 1.061000 0.40601 -0.321000 0.08615 TAT KCNJ16-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000450880.1 + ENST00000589377.1 Missense_Mutation SNP PCPG-TCGA-WB-A80Q-Normal-SM-5EMLH TTPAL 79183 broad.mit.edu 37 20 43113157 43113157 + Missense_Mutation SNP T T C TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr20:43113157T>C ENST00000372906.2 + 2.0 565 TTPAL_ENST00000262605.4_Missense_Mutation_p.I209T|TTPAL_ENST00000372904.3_Missense_Mutation_p.I209T Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like intracellular (GO:0005622)|membrane (GO:0016020) transporter activity (GO:0005215) p.I209T(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5) 18.0 AAAAAGGTGATTGGCATCCTC 0.468 1 Substitution - Missense(1) haematopoietic_and_lymphoid_tissue(1) 109.0 96.0 101.0 20 43113157.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant BC003071 CCDS13332.2 20q13.12 2008-06-23 2008-06-23 2008-06-23 ENSG00000124120 ENSG00000124120 79183.0 79183.0 16114.0 protein-coding gene gene with protein product """chromosome 20 open reading frame 121""" C20orf121 Standard NM_024331 NM_024331 Approved dJ179M20.3 uc002xmd.2 Q9BTX7 OTTHUMG00000032536 ENST00000372906.2:c.445+4073T>C 20.__UNKNOWN__:g.43113157T>C E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8 __UNKNOWN__ . . . . . . . . . . T 15.67 2.903446 0.52333 . . ENSG00000124120 ENST00000262605;ENST00000372904 T;T 0.78481 -1.18;-1.18 6.05 6.05 0.98169 Cellular retinaldehyde-binding/triple function, C-terminal (5); 0.047558 0.85682 D 0.000000 T 0.65852 0.2731 N 0.20610 0.595 0.80722 D 1 B 0.31153 0.31 B 0.27887 0.084 T 0.64491 -0.6395 10 0.36615 T 0.2 -13.8835 16.5932 0.84781 0.0:0.0:0.0:1.0 . 209 Q9BTX7 TTPAL_HUMAN T 209 ENSP00000262605:I209T;ENSP00000361995:I209T ENSP00000262605:I209T I + 2 0 TTPAL 42546571 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 6.272000 0.72575 2.320000 0.78422 0.528000 0.53228 ATT TTPAL-005 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000127807.2 + ENST00000372906.2 Intron SNP PCPG-TCGA-WB-A80Q-Normal-SM-5EMLH FIGN 55137 broad.mit.edu 37 2 164467612 164467612 + Missense_Mutation SNP T T G TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr2:164467612T>G ENST00000333129.3 - 3.0 1044 c.730A>C c.(730-732)Agt>Cgt p.S244R FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 244.0 Pro-rich. mitotic nuclear division (GO:0007067) cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363) ATP binding (GO:0005524) breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47.0 TAGCTGTAACTGGAGAGGTTA 0.612 0 46.0 50.0 49.0 2 164467612.0 1993.0 4177.0 6170.0 SO:0001583 missense AK001267 CCDS2221.2 2q24 2010-04-21 ENSG00000182263 ENSG00000182263 55137.0 55137.0 """ATPases / AAA-type""" 13285.0 protein-coding gene gene with protein product 605295 11017077 Standard NM_018086 XM_005246661 Approved uc002uck.1 Q5HY92 OTTHUMG00000074059 ENST00000333129.3:c.730A>C 2.__UNKNOWN__:g.164467612T>G ENSP00000333836:p.Ser244Arg B3KWM0|Q9H6M5|Q9NVZ9 __UNKNOWN__ CCDS2221.2 . . . . . . . . . . T 15.90 2.968934 0.53614 . . ENSG00000182263 ENST00000333129 T 0.26810 1.71 6.07 3.72 0.42706 . 0.172208 0.50627 D 0.000108 T 0.22205 0.0535 L 0.44542 1.39 0.49389 D 0.999789 B 0.22414 0.069 B 0.23150 0.044 T 0.05037 -1.0910 10 0.59425 D 0.04 -3.0732 10.1819 0.42972 0.0:0.1336:0.0:0.8664 . 244 Q5HY92 FIGN_HUMAN R 244 ENSP00000333836:S244R ENSP00000333836:S244R S - 1 0 FIGN 164175858 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 4.192000 0.58378 1.105000 0.41606 0.533000 0.62120 AGT FIGN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000157220.2 - ENST00000333129.3 Missense_Mutation SNP PCPG-TCGA-WB-A80Q-Normal-SM-5EMLH RAB40A 142684 broad.mit.edu 37 X 102755566 102755566 + Missense_Mutation SNP T T A TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chrX:102755566T>A ENST00000372633.1 - 1.0 2237 c.119A>T c.(118-120)gAg>gTg p.E40V RAB40A_ENST00000304236.1_Missense_Mutation_p.E40V Q8WXH6 RB40A_HUMAN RAB40A, member RAS oncogene family 40.0 protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264) plasma membrane (GO:0005886) GTP binding (GO:0005525) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 12.0 GTACGGGGACTCAGCTGCACC 0.622 0 118.0 105.0 109.0 X 102755566.0 2203.0 4300.0 6503.0 SO:0001583 missense AF132748 CCDS35357.1 Xq22.1 2009-08-25 ENSG00000172476 ENSG00000172476 142684.0 142684.0 """RAB, member RAS oncogene""" 18283.0 protein-coding gene gene with protein product 11697911 Standard NM_080879 Approved RAR2A, Rar-2 uc004ekk.3 Q8WXH6 OTTHUMG00000022100 ENST00000372633.1:c.119A>T X.__UNKNOWN__:g.102755566T>A ENSP00000361716:p.Glu40Val O00407|Q17RQ5|Q6DK06|Q8TF06 __UNKNOWN__ CCDS35357.1 . . . . . . . . . . . 16.52 3.146237 0.57044 . . ENSG00000172476 ENST00000372633;ENST00000304236 T;T 0.76968 -1.06;-1.06 1.53 1.53 0.23141 Small GTP-binding protein domain (1); 0.000000 0.47455 U 0.000231 T 0.55816 0.1944 N 0.17345 0.48 0.58432 D 0.999995 P 0.39352 0.669 B 0.34931 0.192 T 0.50110 -0.8866 10 0.39692 T 0.17 . 6.8887 0.24216 0.0:0.0:0.0:1.0 . 40 Q8WXH6 RB40A_HUMAN V 40 ENSP00000361716:E40V;ENSP00000305648:E40V ENSP00000305648:E40V E - 2 0 RAB40A 102642222 1.000000 0.71417 0.017000 0.16124 0.029000 0.11900 5.041000 0.64196 0.580000 0.29522 0.235000 0.17854 GAG RAB40A-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057714.1 - ENST00000372633.1 Missense_Mutation SNP PCPG-TCGA-WB-A80Q-Normal-SM-5EMLH BMP4 652 broad.mit.edu 37 14 54417562 54417562 + Missense_Mutation SNP G G A TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr14:54417562G>A ENST00000245451.4 - 4.0 808 c.415C>T c.(415-417)Cgt>Tgt p.R139C BMP4_ENST00000417573.1_Missense_Mutation_p.R139C|BMP4_ENST00000559087.1_Missense_Mutation_p.R139C|BMP4_ENST00000558984.1_Missense_Mutation_p.R139C NM_001202.3 NP_001193.2 P12644 BMP4_HUMAN bone morphogenetic protein 4 139.0 activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657) extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201) breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1) 19.0 AAGAGGAAACGAAAAGCAGAG 0.498 0 62.0 56.0 58.0 14 54417562.0 2201.0 4291.0 6492.0 SO:0001583 missense AF035427 CCDS9715.1 14q22-q23 2014-01-30 ENSG00000125378 ENSG00000125378 652.0 652.0 """Bone morphogenetic proteins"", ""Endogenous ligands""" 1071.0 protein-coding gene gene with protein product 112262 BMP2B 7558046, 7579580 Standard NM_001202 NM_001202 Approved uc010aoh.3 P12644 OTTHUMG00000140303 ENST00000245451.4:c.415C>T 14.__UNKNOWN__:g.54417562G>A ENSP00000245451:p.Arg139Cys Q9UM80 __UNKNOWN__ CCDS9715.1 . . . . . . . . . . G 17.79 3.474804 0.63737 . . ENSG00000125378 ENST00000245451;ENST00000417573 T;T 0.66995 -0.24;-0.24 5.37 5.37 0.77165 Transforming growth factor-beta, N-terminal (1); 0.048867 0.85682 D 0.000000 D 0.84620 0.5512 M 0.87381 2.88 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 D 0.86766 0.1970 10 0.87932 D 0 . 18.2734 0.90076 0.0:0.0:1.0:0.0 . 139 P12644 BMP4_HUMAN C 139 ENSP00000245451:R139C;ENSP00000394165:R139C ENSP00000245451:R139C R - 1 0 BMP4 53487312 1.000000 0.71417 1.000000 0.80357 0.948000 0.59901 9.657000 0.98554 2.793000 0.96121 0.655000 0.94253 CGT BMP4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276894.2 - ENST00000245451.4 Missense_Mutation SNP PCPG-TCGA-WB-A80Q-Normal-SM-5EMLH ADH4 127 broad.mit.edu 37 4 100063871 100063871 + Missense_Mutation SNP C C T TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr4:100063871C>T ENST00000508393.1 - 3.0 301 c.136G>A c.(136-138)Gtt>Att p.V46I RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000423445.1_Missense_Mutation_p.V46I|ADH4_ENST00000265512.7_Missense_Mutation_p.V27I|ADH4_ENST00000505590.1_Missense_Mutation_p.V46I P08319 ADH4_HUMAN alcohol dehydrogenase 4 (class II), pi polypeptide 27.0 alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270) NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18.0 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) GCTACTTCAACCTCTTCAATG 0.507 0 70.0 61.0 64.0 4 100063871.0 2203.0 4300.0 6503.0 SO:0001583 missense M15943 CCDS34032.1 4q22 2008-02-05 ENSG00000198099 127.0 127.0 1.1.1.1 """Alcohol dehydrogenases""" 252.0 protein-coding gene gene with protein product 103740 Standard NM_000670 NM_000670 Approved ADH-2 uc003hun.3 P08319 ENST00000508393.1:c.136G>A 4.__UNKNOWN__:g.100063871C>T ENSP00000424630:p.Val46Ile A8K470|B4DIE7|C9J4A9|Q8TCD7 __UNKNOWN__ . . . . . . . . . . C 5.276 0.236365 0.10023 . . ENSG00000198099 ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590;ENST00000512499;ENST00000504125 T;T;T;T;T;T 0.03413 3.94;3.94;3.94;3.94;3.94;3.94 4.16 0.387 0.16259 GroES-like (1); 0.259933 0.29355 N 0.012383 T 0.01905 0.0060 N 0.11845 0.185 0.37784 D 0.927101 B;B 0.02656 0.0;0.0 B;B 0.18561 0.014;0.022 T 0.50516 -0.8819 10 0.08837 T 0.75 -13.8438 8.0188 0.30398 0.0:0.5735:0.0:0.4265 . 46;27 P08319-2;P08319 .;ADH4_HUMAN I 46;27;46;46;46;27 ENSP00000424630:V46I;ENSP00000265512:V27I;ENSP00000397939:V46I;ENSP00000425416:V46I;ENSP00000423571:V46I;ENSP00000427525:V27I ENSP00000265512:V27I V - 1 0 ADH4 100282894 0.016000 0.18221 0.977000 0.42913 0.993000 0.82548 0.220000 0.17660 -0.071000 0.12886 0.655000 0.94253 GTT ADH4-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000364221.1 - ENST00000508393.1 Missense_Mutation SNP PCPG-TCGA-WB-A80Q-Normal-SM-5EMLH PLCB4 5332 broad.mit.edu 37 20 9389817 9389817 + Missense_Mutation SNP A A G TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr20:9389817A>G ENST00000378501.2 + 20.0 1967 c.1952A>G c.(1951-1953)tAt>tGt p.Y651C PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.Y651C|PLCB4_ENST00000378473.3_Missense_Mutation_p.Y663C|PLCB4_ENST00000414679.2_Missense_Mutation_p.Y663C|PLCB4_ENST00000334005.3_Missense_Mutation_p.Y651C|PLCB4_ENST00000278655.4_Missense_Mutation_p.Y651C NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 651.0 PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}. inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790) calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871) 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) 87.0 TCACTGAACTATCAAACCCCA 0.502 0 52.0 44.0 47.0 20 9389817.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS13104.1, CCDS13105.1, CCDS54447.1 20p12 2008-03-18 ENSG00000101333 ENSG00000101333 5332.0 5332.0 3.1.4.11 9059.0 protein-coding gene gene with protein product 600810 8530101 Standard NM_000933 Approved uc021wam.1 Q15147 OTTHUMG00000031853 ENST00000378501.2:c.1952A>G 20.__UNKNOWN__:g.9389817A>G ENSP00000367762:p.Tyr651Cys B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2 __UNKNOWN__ CCDS13104.1 . . . . . . . . . . A 14.99 2.700987 0.48307 . . ENSG00000101333 ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679 T;T;T;T;T;T 0.69806 -0.43;-0.43;-0.43;-0.43;-0.43;-0.43 5.92 5.92 0.95590 PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3); 0.106935 0.64402 D 0.000005 D 0.83358 0.5237 M 0.89601 3.045 0.58432 D 0.999997 B;D;D;B 0.71674 0.001;0.998;0.992;0.003 B;P;P;B 0.60345 0.005;0.818;0.873;0.003 D 0.86808 0.1996 10 0.66056 D 0.02 . 16.3544 0.83230 1.0:0.0:0.0:0.0 . 663;498;651;651 E2QRH8;Q15147-2;Q15147;Q15147-4 .;.;PLCB4_HUMAN;. C 651;663;651;651;651;499 ENSP00000334105:Y651C;ENSP00000367734:Y663C;ENSP00000278655:Y651C;ENSP00000367754:Y651C;ENSP00000367762:Y651C;ENSP00000390616:Y499C ENSP00000278655:Y651C Y + 2 0 PLCB4 9337817 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 5.712000 0.68407 2.265000 0.75225 0.459000 0.35465 TAT PLCB4-011 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000077958.2 + ENST00000378501.2 Missense_Mutation SNP PCPG-TCGA-WB-A80Q-Normal-SM-5EMLH VWA3B 200403 broad.mit.edu 37 2 98928751 98928751 + Missense_Mutation SNP C C G TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr2:98928751C>G ENST00000477737.1 + 28.0 4028 c.3824C>G c.(3823-3825)cCc>cGc p.P1275R VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1275.0 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) 70.0 GCAGCCCTGCCCTGTACTCTC 0.627 0 57.0 67.0 64.0 2 98928751.0 2112.0 4219.0 6331.0 SO:0001583 missense AL832761 CCDS42718.1 2q11.2 2008-02-05 ENSG00000168658 ENSG00000168658 200403.0 200403.0 28385.0 protein-coding gene gene with protein product 12477932 Standard NM_144992 NM_144992 Approved DKFZp686F2227, MGC26733 uc002syo.3 Q502W6 OTTHUMG00000153104 ENST00000477737.1:c.3824C>G 2.__UNKNOWN__:g.98928751C>G ENSP00000417955:p.Pro1275Arg B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02 __UNKNOWN__ CCDS42718.1 . . . . . . . . . . C 13.44 2.237411 0.39498 . . ENSG00000168658 ENST00000477737;ENST00000358269 T 0.06687 3.27 4.28 1.52 0.23074 . . . . . T 0.05181 0.0138 N 0.19112 0.55 0.09310 N 0.999999 P 0.41313 0.745 B 0.41988 0.372 T 0.35500 -0.9786 9 0.18276 T 0.48 . 3.9613 0.09412 0.1864:0.6174:0.0:0.1962 . 1275 Q502W6 VWA3B_HUMAN R 1275;397 ENSP00000417955:P1275R ENSP00000351009:P397R P + 2 0 VWA3B 98295183 0.003000 0.15002 0.011000 0.14972 0.001000 0.01503 0.498000 0.22530 0.353000 0.24079 -0.169000 0.13324 CCC VWA3B-020 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353469.2 + ENST00000477737.1 Missense_Mutation SNP PCPG-TCGA-WB-A80Q-Normal-SM-5EMLH ZBP1 81030 unc.edu 37 20 56191343 56191343 + Silent SNP A A G TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS;RNA-Seq none Illumina HiSeq 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr20:56191343A>G ENST00000371173.3 - 2.0 393 c.216T>C c.(214-216)gaT>gaC p.D72D ZBP1_ENST00000343535.4_Silent_p.D72D|ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000541799.1_Silent_p.D72D|ZBP1_ENST00000340462.4_Silent_p.D72D|ZBP1_ENST00000538947.1_5'UTR NM_001160417.1|NM_030776.2 NP_001153889.1|NP_110403.2 Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 72.0 innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723) large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27.0 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) CGCCTTCAGGATCAGTCCCGC 0.607 0 116.0 105.0 109.0 20 56191343.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AJ300575 CCDS13461.1, CCDS54477.1, CCDS54478.1 20q13.31 2009-08-21 2002-07-25 2002-07-26 ENSG00000124256 ENSG00000124256 81030.0 81030.0 16176.0 protein-coding gene gene with protein product """DNA-dependent activator of IRFs""" 606750 """chromosome 20 open reading frame 183""" C20orf183 11842111 Standard NM_030776 NM_030776 Approved dJ718J7.3, DLM1, DLM-1, DAI uc002xyo.3 Q9H171 OTTHUMG00000032824 ENST00000371173.3:c.216T>C 20.__UNKNOWN__:g.56191343A>G A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4 __UNKNOWN__ CCDS13461.1 ZBP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000079849.1 - ENST00000371173.3 Silent SNP PCPG-TCGA-WB-A80Q-Normal-SM-5EMLH PDE1B 0 broad.mit.edu 37 12 54963377 54963377 + Missense_Mutation SNP C C T TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr12:54963377C>T ENST00000538346.1 + 4.0 471 c.335C>T c.(334-336)gCg>gTg p.A112V PDE1B_ENST00000550620.1_Missense_Mutation_p.A133V|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000243052.3_Missense_Mutation_p.A153V Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 153.0 activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542) cytosol (GO:0005829)|neuronal cell body (GO:0043025) 3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872) endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31.0 Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622) TACTCTACTGCGGTTCTCAAC 0.488 0 140.0 115.0 124.0 12 54963377.0 2203.0 4300.0 6503.0 SO:0001583 missense U56976 CCDS8882.1, CCDS53800.1, CCDS73477.1 12q13 2008-03-18 ENSG00000123360 5153.0 3.1.4.17 """Phosphodiesterases""" 8775.0 protein-coding gene gene with protein product 171891 PDES1B 8855339, 9419816 Standard NM_000924 Approved uc001sgd.2 Q01064 OTTHUMG00000169844 ENST00000538346.1:c.335C>T 12.__UNKNOWN__:g.54963377C>T ENSP00000442559:p.Ala112Val Q92825|Q96KP3 __UNKNOWN__ . . . . . . . . . . C 8.838 0.941527 0.18281 . . ENSG00000123360 ENST00000243052;ENST00000538346;ENST00000550620 T;T;T 0.69685 -0.42;-0.4;-0.41 4.16 1.33 0.21861 5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1); 0.201429 0.40302 N 0.001121 T 0.46718 0.1407 L 0.29908 0.895 0.36900 D 0.890337 B;B 0.20261 0.043;0.025 B;B 0.15870 0.014;0.006 T 0.29971 -0.9994 10 0.29301 T 0.29 . 5.5467 0.17067 0.1589:0.6614:0.0:0.1797 . 133;153 Q01064-2;Q01064 .;PDE1B_HUMAN V 153;112;133 ENSP00000243052:A153V;ENSP00000442559:A112V;ENSP00000448519:A133V ENSP00000243052:A153V A + 2 0 PDE1B 53249644 0.907000 0.30839 0.329000 0.25429 0.286000 0.27126 1.902000 0.39848 0.296000 0.22592 0.655000 0.94253 GCG PDE1B-004 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000406206.1 + ENST00000538346.1 Missense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM LPA 4018 broad.mit.edu 37 6 160999682 160999682 + Silent SNP A A G TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr6:160999682A>G ENST00000316300.5 - 27.0 4388 c.4344T>C c.(4342-4344)tgT>tgC p.C1448C LPA_ENST00000447678.1_Silent_p.C1448C P08519 APOA_HUMAN lipoprotein, Lp(a) 3956.0 Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}. blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281) extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358) apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252) 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) 107.0 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) CCATGGTGTAACACCAAGGGC 0.517 0 107.0 111.0 109.0 6 160999682.0 2149.0 4275.0 6424.0 SO:0001819 synonymous_variant X06290 CCDS43523.1 6q25-q26 2012-10-02 ENSG00000198670 ENSG00000198670 4018.0 4018.0 6667.0 protein-coding gene gene with protein product 152200 LP 3670400 Standard NM_005577 NM_005577 Approved uc003qtl.3 P08519 OTTHUMG00000015956 ENST00000316300.5:c.4344T>C 6.__UNKNOWN__:g.160999682A>G Q5VTD7|Q9UD88 __UNKNOWN__ CCDS43523.1 LPA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042957.1 - ENST00000316300.5 Silent SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM CYP4A11 1579 broad.mit.edu 37 1 47402419 47402419 + Nonsense_Mutation SNP G G A TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr1:47402419G>A ENST00000310638.4 - 4.0 458 c.427C>T c.(427-429)Cga>Tga p.R143* CYP4A11_ENST00000371905.1_Nonsense_Mutation_p.R143*|CYP4A11_ENST00000457840.2_Nonsense_Mutation_p.R39*|CYP4A11_ENST00000462347.1_Nonsense_Mutation_p.R143*|CYP4A11_ENST00000371904.4_Nonsense_Mutation_p.R143* NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 143.0 arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805) apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231) alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051) endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36.0 Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755) AGCATCCGTCGATGCTGGAAC 0.527 0 109.0 83.0 92.0 1 47402419.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained L04751 CCDS543.1 1p33 2008-02-05 2003-01-14 ENSG00000187048 ENSG00000187048 1579.0 1579.0 """Cytochrome P450s""" 2642.0 protein-coding gene gene with protein product 601310 """cytochrome P450, subfamily IVA, polypeptide 11""" CYP4A2 7679927 Standard NM_000778 NM_000778 Approved CYP4AII uc001cqp.4 Q02928 OTTHUMG00000008020 ENST00000310638.4:c.427C>T 1.__UNKNOWN__:g.47402419G>A ENSP00000311095:p.Arg143* Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5 __UNKNOWN__ CCDS543.1 . . . . . . . . . . N 23.1 4.378508 0.82682 . . ENSG00000187048 ENST00000310638;ENST00000371904;ENST00000371905;ENST00000457840 . . . 5.32 2.18 0.27775 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 9.3463 0.38111 0.0665:0.0:0.5742:0.3593 . . . . X 143;143;143;39 . ENSP00000311095:R143X R - 1 2 CYP4A11 47175006 0.645000 0.27286 0.827000 0.32855 0.672000 0.39443 -0.003000 0.12901 0.573000 0.29400 0.644000 0.83932 CGA CYP4A11-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000022022.1 - ENST00000310638.4 Nonsense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM MCCC1 56922 broad.mit.edu 37 3 182743580 182743580 + Missense_Mutation SNP G G T TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr3:182743580G>T ENST00000265594.4 - 15.0 1840 c.1694C>A c.(1693-1695)gCt>gAt p.A565D MCCC1_ENST00000539926.1_Intron|MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000492597.1_Missense_Mutation_p.A456D NM_020166.3 NP_064551.3 Q96RQ3 MCCA_HUMAN methylcrotonoyl-CoA carboxylase 1 (alpha) 565.0 biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2) 40.0 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) ATACGTTACAGCTATGGCTAC 0.353 0 143.0 120.0 128.0 3 182743580.0 2203.0 4300.0 6503.0 SO:0001583 missense AF310972 CCDS3241.1 3q27.1 2010-04-30 2010-04-30 ENSG00000078070 ENSG00000078070 56922.0 56922.0 6.4.1.4 6936.0 protein-coding gene gene with protein product 609010 """methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)""" 11170888 Standard NM_020166 XR_241502 Approved MCCA uc003fle.3 Q96RQ3 OTTHUMG00000158355 ENST00000265594.4:c.1694C>A 3.__UNKNOWN__:g.182743580G>T ENSP00000265594:p.Ala565Asp Q59ES4|Q9H959|Q9NS97 __UNKNOWN__ CCDS3241.1 . . . . . . . . . . G 3.811 -0.039694 0.07497 . . ENSG00000078070 ENST00000265594;ENST00000492597;ENST00000392616;ENST00000476176 D;D;D 0.95447 -3.71;-3.66;-3.46 5.32 4.44 0.53790 . 0.435503 0.27531 N 0.018951 D 0.90390 0.6992 L 0.51422 1.61 0.80722 D 1 P;B;B 0.40000 0.698;0.411;0.002 B;B;B 0.30105 0.11;0.111;0.002 D 0.88052 0.2788 10 0.13470 T 0.59 . 11.3587 0.49630 0.0847:0.0:0.9153:0.0 . 518;456;565 E9PG35;E9PHF7;Q96RQ3 .;.;MCCA_HUMAN D 565;456;415;518 ENSP00000265594:A565D;ENSP00000419898:A456D;ENSP00000420433:A518D ENSP00000265594:A565D A - 2 0 MCCC1 184226274 1.000000 0.71417 1.000000 0.80357 0.113000 0.19764 3.376000 0.52417 2.490000 0.84030 0.563000 0.77884 GCT MCCC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350775.1 - ENST00000265594.4 Missense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM TRIM71 131405 broad.mit.edu 37 3 32932862 32932862 + Silent SNP C C T TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr3:32932862C>T ENST00000383763.5 + 4.0 2229 c.2166C>T c.(2164-2166)caC>caT p.H722H NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 722.0 fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089) cytoplasmic mRNA processing body (GO:0000932) ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24.0 CGAGGAACCACCGGATCCAGC 0.542 0 45.0 51.0 49.0 3 32932862.0 2023.0 4181.0 6204.0 SO:0001819 synonymous_variant CCDS43060.1 3p22.3 2014-02-17 2012-02-29 ENSG00000206557 ENSG00000206557 131405.0 131405.0 """Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers""" 32669.0 protein-coding gene gene with protein product """tripartite motif-containing 71"", ""tripartite motif containing 71""" Standard NM_001039111 NM_001039111 Approved LIN41, LIN-41 uc003cff.3 Q2Q1W2 OTTHUMG00000155778 ENST00000383763.5:c.2166C>T 3.__UNKNOWN__:g.32932862C>T __UNKNOWN__ CCDS43060.1 TRIM71-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000341565.3 + ENST00000383763.5 Silent SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM SEH1L 81929 broad.mit.edu 37 18 12971218 12971218 + Missense_Mutation SNP G G T TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr18:12971218G>T ENST00000262124.11 + 5.0 715 c.588G>T c.(586-588)aaG>aaT p.K196N SEH1L_ENST00000399892.2_Missense_Mutation_p.K196N NM_031216.3 NP_112493.2 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 196.0 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11.0 CAATGGCCAAGGTTCAGATTT 0.373 0 112.0 108.0 110.0 18 12971218.0 2203.0 4300.0 6503.0 SO:0001583 missense BC012430 CCDS32791.1, CCDS45832.1 18p11.21 2013-01-10 ENSG00000085415 81929.0 81929.0 """WD repeat domain containing""" 30379.0 protein-coding gene gene with protein product """sec13 like protein"", ""nucleoporin Seh1""" 609263 12196509, 14517296 Standard NM_031216 XM_005258152 Approved SEH1A, SEH1B, Seh1, SEC13L uc002krq.3 Q96EE3 ENST00000262124.11:c.588G>T 18.__UNKNOWN__:g.12971218G>T ENSP00000262124:p.Lys196Asn A8K5B1|Q8NFU6|Q96MH3|Q9C069 __UNKNOWN__ CCDS45832.1 . . . . . . . . . . G 18.35 3.603786 0.66445 . . ENSG00000085415 ENST00000399892;ENST00000262124 T;T 0.66099 -0.19;-0.19 5.76 2.65 0.31530 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1); 0.000000 0.85682 D 0.000000 T 0.75361 0.3839 M 0.83384 2.64 0.58432 D 0.999998 D;D 0.71674 0.992;0.998 D;D 0.69654 0.957;0.965 T 0.71388 -0.4608 10 0.27785 T 0.31 -18.0785 9.5227 0.39145 0.4642:0.0:0.5358:0.0 . 196;196 Q96EE3;Q96EE3-1 SEH1_HUMAN;. N 196 ENSP00000382779:K196N;ENSP00000262124:K196N ENSP00000262124:K196N K + 3 2 SEH1L 12961218 1.000000 0.71417 1.000000 0.80357 0.951000 0.60555 0.976000 0.29462 0.222000 0.20900 0.563000 0.77884 AAG SEH1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000458254.1 + ENST00000262124.11 Missense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM ZNF503 84858 broad.mit.edu 37 10 77158808 77158808 + Missense_Mutation SNP C C T TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr10:77158808C>T ENST00000372524.4 - 2.0 2126 c.1640G>A c.(1639-1641)gGg>gAg p.G547E RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.G547E NM_032772.4 NP_116161.2 Q96F45 ZN503_HUMAN zinc finger protein 503 547.0 G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) lung(4)|ovary(1)|skin(1) 6.0 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) TTTGTCTGTCCCGGGAAATGC 0.662 0 25.0 22.0 23.0 10 77158808.0 2202.0 4298.0 6500.0 SO:0001583 missense AK127647 CCDS7350.1 10q22.3 2011-02-09 ENSG00000165655 ENSG00000165655 84858.0 84858.0 """Zinc fingers, C2H2-type""" 23589.0 protein-coding gene gene with protein product 613902 12477932 Standard NM_032772 NM_032772 Approved FLJ45745, MGC2555 uc001jxg.3 Q96F45 OTTHUMG00000018526 ENST00000372524.4:c.1640G>A 10.__UNKNOWN__:g.77158808C>T ENSP00000361602:p.Gly547Glu Q8NAC5|Q96E25|Q96IJ0 __UNKNOWN__ CCDS7350.1 . . . . . . . . . . C 22.1 4.242513 0.79912 . . ENSG00000165655 ENST00000372524;ENST00000535216;ENST00000372516 T;T 0.48836 0.8;0.8 4.6 4.6 0.57074 . 0.000000 0.85682 D 0.000000 T 0.68559 0.3014 M 0.71036 2.16 0.54753 D 0.999982 D 0.89917 1.0 D 0.91635 0.999 T 0.72747 -0.4200 10 0.66056 D 0.02 -9.1857 17.6259 0.88093 0.0:1.0:0.0:0.0 . 547 Q96F45 ZN503_HUMAN E 547;547;510 ENSP00000361602:G547E;ENSP00000438988:G547E ENSP00000361594:G510E G - 2 0 ZNF503 76828814 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 7.227000 0.78070 2.376000 0.81061 0.643000 0.83706 GGG ZNF503-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048826.1 - ENST00000372524.4 Missense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM RNF149 284996 broad.mit.edu 37 2 101898392 101898392 + Missense_Mutation SNP G G A TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr2:101898392G>A ENST00000295317.3 - 6.0 1195 c.1088C>T c.(1087-1089)tCc>tTc p.S363F NM_173647.3 NP_775918.2 Q8NC42 RN149_HUMAN ring finger protein 149 363.0 cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12.0 TTCAGCAGGGGAGGCTGATGG 0.483 Colon(25;331 612 6521 7355 31028) 0 167.0 150.0 156.0 2 101898392.0 2203.0 4300.0 6503.0 SO:0001583 missense AK074985 CCDS2051.1 2q12.1 2013-01-09 ENSG00000163162 ENSG00000163162 284996.0 284996.0 """RING-type (C3HC4) zinc fingers""" 23137.0 protein-coding gene gene with protein product Standard NM_173647 NM_173647 Approved FLJ90504 uc002taz.2 Q8NC42 OTTHUMG00000130685 ENST00000295317.3:c.1088C>T 2.__UNKNOWN__:g.101898392G>A ENSP00000295317:p.Ser363Phe Q53S14|Q8N5I8|Q8NBY5|Q8WUU3 __UNKNOWN__ CCDS2051.1 . . . . . . . . . . G 22.4 4.288027 0.80803 . . ENSG00000163162 ENST00000295317 T 0.10477 2.87 5.63 5.63 0.86233 . 0.086238 0.50627 D 0.000120 T 0.25865 0.0630 L 0.59436 1.845 0.41888 D 0.990353 D 0.54397 0.966 P 0.54401 0.751 T 0.00275 -1.1856 10 0.87932 D 0 . 19.2864 0.94072 0.0:0.0:1.0:0.0 . 363 Q8NC42 RN149_HUMAN F 363 ENSP00000295317:S363F ENSP00000295317:S363F S - 2 0 RNF149 101264824 1.000000 0.71417 0.115000 0.21578 0.026000 0.11368 6.054000 0.71096 2.644000 0.89710 0.563000 0.77884 TCC RNF149-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253180.2 - ENST00000295317.3 Missense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM GRIN1 2902 broad.mit.edu 37 9 140043506 140043506 + Missense_Mutation SNP G G A TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr9:140043506G>A ENST00000371553.3 + 5.0 685 c.679G>A c.(679-681)Gcc>Acc p.A227T GRIN1_ENST00000315048.3_Missense_Mutation_p.A206T|GRIN1_ENST00000371560.3_Missense_Mutation_p.A227T|GRIN1_ENST00000371559.4_Missense_Mutation_p.A206T|GRIN1_ENST00000371550.4_Missense_Mutation_p.A206T|GRIN1_ENST00000350902.5_Missense_Mutation_p.A206T|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Missense_Mutation_p.A227T|GRIN1_ENST00000371555.4_Missense_Mutation_p.A227T|GRIN1_ENST00000371561.3_Missense_Mutation_p.A206T NM_001185090.1 NP_001172019.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 206.0 adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542) cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195) calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843) NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15.0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418) GAACGTGACGGCCCTGCTGAT 0.622 NSCLC(113;717 1653 2089 20474 37618) 0 120.0 96.0 104.0 9 140043506.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1 9q34.3 2013-01-11 ENSG00000176884 ENSG00000176884 2902.0 2902.0 """Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors""" 4584.0 protein-coding gene gene with protein product 138249 """N-methyl-D-aspartate receptor subunit NR1""" NMDAR1 1350383 Standard NM_007327 NM_000832 Approved GluN1 uc004cln.3 Q05586 OTTHUMG00000020976 ENST00000371553.3:c.679G>A 9.__UNKNOWN__:g.140043506G>A ENSP00000360608:p.Ala227Thr A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9 __UNKNOWN__ CCDS55354.1 . . . . . . . . . . G 3.136 -0.177464 0.06380 . . ENSG00000176884 ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560 T;T;T;T;D;D;D;T;D 0.83335 1.95;1.95;1.95;1.95;-1.71;-1.71;-1.71;1.95;-1.71 3.81 2.89 0.33648 Extracellular ligand-binding receptor (1); 0.279328 0.33110 N 0.005274 T 0.58680 0.2139 N 0.03608 -0.345 0.49213 D 0.999768 B;B;B;B;B;B 0.06786 0.0;0.0;0.0;0.0;0.001;0.0 B;B;B;B;B;B 0.09377 0.004;0.002;0.001;0.001;0.002;0.001 T 0.46247 -0.9205 10 0.11794 T 0.64 . 8.1982 0.31409 0.0:0.1719:0.6511:0.1769 . 227;227;206;206;206;206 Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2 .;.;.;.;NMDZ1_HUMAN;. T 206;206;206;206;227;227;227;206;227 ENSP00000360616:A206T;ENSP00000316696:A206T;ENSP00000316915:A206T;ENSP00000360605:A206T;ENSP00000360601:A227T;ENSP00000360610:A227T;ENSP00000360608:A227T;ENSP00000360614:A206T;ENSP00000360615:A227T ENSP00000316696:A206T A + 1 0 GRIN1 139163327 0.920000 0.31207 0.832000 0.32986 0.523000 0.34469 2.912000 0.48782 0.797000 0.33971 0.462000 0.41574 GCC GRIN1-008 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000055273.2 + ENST00000371553.3 Missense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM ANKRD17 26057 broad.mit.edu 37 4 74005476 74005476 + Missense_Mutation SNP T T C TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr4:74005476T>C ENST00000358602.4 - 15.0 2973 c.2857A>G c.(2857-2859)Atc>Gtc p.I953V ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000509867.2_Missense_Mutation_p.I840V NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 953.0 Gln-rich. blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96.0 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGAGGCTGGATTGGCGCAAAA 0.532 0 71.0 69.0 70.0 4 74005476.0 2203.0 4300.0 6503.0 SO:0001583 missense AB014597 CCDS34003.1, CCDS34004.1, CCDS68721.1 4q21.1-q21.21 2013-01-10 ENSG00000132466 ENSG00000132466 26057.0 26057.0 """Ankyrin repeat domain containing""" 23575.0 protein-coding gene gene with protein product 615929 11165478 Standard NM_032217 NM_032217 Approved GTAR, KIAA0697, FLJ22206, NY-BR-16 uc003hgp.3 O75179 OTTHUMG00000160826 ENST00000358602.4:c.2857A>G 4.__UNKNOWN__:g.74005476T>C ENSP00000351416:p.Ile953Val E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9 __UNKNOWN__ CCDS34004.1 . . . . . . . . . . T 2.440 -0.328886 0.05314 . . ENSG00000132466 ENST00000358602;ENST00000426990;ENST00000509867;ENST00000411811 T;T 0.65178 -0.14;-0.12 5.87 3.41 0.39046 Ankyrin repeat-containing domain (1); 0.078222 0.53938 D 0.000056 T 0.48077 0.1480 L 0.32530 0.975 0.80722 D 1 B;B;B;B 0.10296 0.002;0.0;0.003;0.001 B;B;B;B 0.09377 0.004;0.001;0.001;0.001 T 0.30621 -0.9972 10 0.31617 T 0.26 . 10.3623 0.44001 0.0:0.1909:0.0:0.8091 . 474;953;953;840 B4DR08;O75179-2;O75179;E7EUV3 .;.;ANR17_HUMAN;. V 953;953;840;953 ENSP00000351416:I953V;ENSP00000427151:I840V ENSP00000351416:I953V I - 1 0 ANKRD17 74224340 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 2.261000 0.43276 0.553000 0.29044 0.533000 0.62120 ATC ANKRD17-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000362475.1 - ENST00000358602.4 Missense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM ADAT1 23536 broad.mit.edu 37 16 75646709 75646709 + Missense_Mutation SNP A A T TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr16:75646709A>T ENST00000307921.3 - 7.0 620 c.475T>A c.(475-477)Tgt>Agt p.C159S NM_012091.3 NP_036223.2 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 159.0 A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}. tRNA processing (GO:0008033) metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251) breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1) 19.0 AAGACAGGACAGCAAGGCTGA 0.478 0 71.0 75.0 73.0 16 75646709.0 2198.0 4300.0 6498.0 SO:0001583 missense AF125188 CCDS10922.1 16q23 2008-02-05 ENSG00000065457 ENSG00000065457 23536.0 23536.0 228.0 protein-coding gene gene with protein product 604230 10430867 Standard NM_012091 NM_012091 Approved uc002feo.2 Q9BUB4 OTTHUMG00000137611 ENST00000307921.3:c.475T>A 16.__UNKNOWN__:g.75646709A>T ENSP00000310015:p.Cys159Ser Q9NVB7|Q9UNG3 __UNKNOWN__ CCDS10922.1 . . . . . . . . . . A 7.776 0.708464 0.15239 . . ENSG00000065457 ENST00000307921;ENST00000542252 T 0.12774 2.65 5.75 0.855 0.19013 Adenosine deaminase/editase (3); 1.165670 0.05774 N 0.607418 T 0.08044 0.0201 N 0.26130 0.795 0.09310 N 1 B 0.09022 0.002 B 0.15870 0.014 T 0.40440 -0.9563 10 0.12766 T 0.61 3.0171 1.4225 0.02315 0.4112:0.1448:0.3044:0.1396 . 159 Q9BUB4 ADAT1_HUMAN S 159;130 ENSP00000310015:C159S ENSP00000310015:C159S C - 1 0 ADAT1 74204210 0.016000 0.18221 0.923000 0.36655 0.795000 0.44927 0.979000 0.29500 0.456000 0.26937 0.533000 0.62120 TGT ADAT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269027.1 - ENST00000307921.3 Missense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM SSH1 54434 broad.mit.edu 37 12 109192840 109192840 + Missense_Mutation SNP T T C rs144199955 by1000genomes TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr12:109192840T>C ENST00000326495.5 - 13.0 1378 c.1285A>G c.(1285-1287)Atc>Gtc p.I429V SSH1_ENST00000360239.3_Missense_Mutation_p.I117V|SSH1_ENST00000326470.5_Missense_Mutation_p.I440V|SSH1_ENST00000551165.1_Missense_Mutation_p.I429V NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 429.0 Tyrosine-protein phosphatase. actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591) cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886) actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38.0 GGGCGCGTGATGCTGCGCTTC 0.562 T 2.0 0.0009 0.0041 2184.0 0.9999 , , 0.0003 0.001 0.9547 LOWCOV,EXOME 0.0005 SNP 0 79.0 75.0 76.0 12 109192840.0 2203.0 4300.0 6503.0 SO:0001583 missense BC062341 CCDS9121.1, CCDS53825.1, CCDS55882.1 12q24.12 2013-03-05 2013-03-05 ENSG00000084112 54434.0 54434.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots""" 30579.0 protein-coding gene gene with protein product 606778 """slingshot homolog 1 (Drosophila)""" 10718198, 11832213 Standard NM_018984 NM_018984 Approved KIAA1298 uc001tnm.3 Q8WYL5 OTTHUMG00000169371 ENST00000326495.5:c.1285A>G 12.__UNKNOWN__:g.109192840T>C ENSP00000315713:p.Ile429Val Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8 __UNKNOWN__ CCDS9121.1 2 9.157509157509158E-4 2 0.0040650406504065045 0 0.0 0 0.0 0 0.0 T 12.41 1.930417 0.34096 . . ENSG00000084112 ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470 D;T;T;T 0.85484 -1.99;1.34;1.34;1.34 5.11 2.75 0.32379 Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2); 0.094281 0.64402 N 0.000001 D 0.85535 0.5719 L 0.41079 1.255 0.30328 N 0.786909 B;B;B;D 0.62365 0.034;0.053;0.106;0.991 B;B;B;D 0.72625 0.108;0.043;0.123;0.978 T 0.78653 -0.2120 10 0.19147 T 0.46 -24.8017 8.0298 0.30459 0.0:0.2245:0.0:0.7755 . 440;429;429;117 Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4 .;.;SSH1_HUMAN;. V 117;429;429;440 ENSP00000353374:I117V;ENSP00000315713:I429V;ENSP00000448824:I429V;ENSP00000326107:I440V ENSP00000326107:I440V I - 1 0 SSH1 107716969 1.000000 0.71417 0.975000 0.42487 0.858000 0.48976 1.866000 0.39489 0.381000 0.24851 0.533000 0.62120 ATC SSH1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000403724.1 - ENST00000326495.5 Missense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM ARHGAP9 64333 broad.mit.edu 37 12 57868688 57868688 + Missense_Mutation SNP G G A TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr12:57868688G>A ENST00000393791.3 - 13.0 1759 c.1621C>T c.(1621-1623)Cgg>Tgg p.R541W ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R620W|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R357W|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R560W|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.R631W|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R541W NM_032496.2 NP_115885.2 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 560.0 Lipid binding. positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547) endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30.0 GBM - Glioblastoma multiforme(3;3.37e-34) ATGCAGAGCCGCAAAAAGCTG 0.547 0 55.0 53.0 54.0 12 57868688.0 2203.0 4300.0 6503.0 SO:0001583 missense AB051853 CCDS8941.2, CCDS44928.1, CCDS44929.1 12q13.3 2013-01-10 ENSG00000123329 ENSG00000123329 64333.0 64333.0 """Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing""" 14130.0 protein-coding gene gene with protein product 610576 11396949 Standard NM_032496 NM_032496 Approved MGC1295, 10C uc001soc.3 Q9BRR9 OTTHUMG00000150147 ENST00000393791.3:c.1621C>T 12.__UNKNOWN__:g.57868688G>A ENSP00000377380:p.Arg541Trp B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74 __UNKNOWN__ CCDS8941.2 . . . . . . . . . . G 18.53 3.644828 0.67358 . . ENSG00000123329 ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130 T;T;T;T;T;T 0.20200 2.09;2.09;2.09;2.09;2.09;2.09 5.2 3.31 0.37934 Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1); 0.126110 0.52532 D 0.000063 T 0.39436 0.1078 L 0.55834 1.745 0.44268 D 0.997121 D;D;D;D;P 0.89917 0.999;1.0;0.998;1.0;0.94 D;D;P;D;B 0.87578 0.916;0.998;0.809;0.997;0.362 T 0.13072 -1.0523 10 0.56958 D 0.05 . 12.3366 0.55071 0.0:0.0:0.6927:0.3072 . 620;560;541;541;357 Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3 .;RHG09_HUMAN;.;.;. W 541;560;211;541;631;590;357;48 ENSP00000377380:R541W;ENSP00000348782:R560W;ENSP00000394307:R541W;ENSP00000377386:R631W;ENSP00000397950:R357W;ENSP00000448423:R48W ENSP00000344852:R590W R - 1 2 ARHGAP9 56154955 0.011000 0.17503 0.986000 0.45419 0.989000 0.77384 1.565000 0.36386 0.814000 0.34374 -0.175000 0.13238 CGG ARHGAP9-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000316537.1 - ENST00000393791.3 Missense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM ALDH1A3 220 broad.mit.edu 37 15 101440899 101440899 + Missense_Mutation SNP G G A TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr15:101440899G>A ENST00000329841.5 + 9.0 1535 c.1003G>A c.(1003-1005)Gtg>Atg p.V335M RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.V228M NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 335.0 embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324) NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27.0 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) Vitamin A(DB00162) CAGGCGGAGCGTGGAGTATGC 0.572 0 71.0 65.0 67.0 15 101440899.0 2203.0 4300.0 6503.0 SO:0001583 missense U07919 CCDS10389.1 15q26 2010-05-07 ENSG00000184254 ENSG00000184254 220.0 220.0 1.2.1.5 """Aldehyde dehydrogenases""" 409.0 protein-coding gene gene with protein product """retinaldehyde dehydrogenase 3""" 600463 ALDH6 7698756 Standard XR_111558 Approved RALDH3 uc002bwn.4 P47895 OTTHUMG00000149870 ENST00000329841.5:c.1003G>A 15.__UNKNOWN__:g.101440899G>A ENSP00000332256:p.Val335Met Q6NT64 __UNKNOWN__ CCDS10389.1 . . . . . . . . . . G 23.1 4.372533 0.82573 . . ENSG00000184254 ENST00000329841;ENST00000346623 T 0.18174 2.23 5.7 5.7 0.88788 Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1); 0.123571 0.56097 D 0.000037 T 0.46521 0.1397 M 0.86651 2.83 0.50039 D 0.999844 D;D 0.89917 1.0;0.997 D;D 0.80764 0.994;0.917 T 0.50294 -0.8845 10 0.66056 D 0.02 . 13.0882 0.59153 0.0731:0.0:0.9269:0.0 . 239;335 Q7Z3A2;P47895 .;AL1A3_HUMAN M 335;239 ENSP00000332256:V335M ENSP00000332256:V335M V + 1 0 ALDH1A3 99258422 1.000000 0.71417 1.000000 0.80357 0.954000 0.61252 4.504000 0.60414 2.671000 0.90904 0.655000 0.94253 GTG ALDH1A3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313620.2 + ENST00000329841.5 Missense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM TM7SF3 51768 broad.mit.edu 37 12 27129269 27129269 + Missense_Mutation SNP T T C TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr12:27129269T>C ENST00000343028.4 - 10.0 1436 c.1211A>G c.(1210-1212)gAt>gGt p.D404G RP11-421F16.3_ENST00000500632.1_RNA NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 404.0 extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18.0 Colorectal(261;0.0847) TACACCATCATCATGAAAAAT 0.363 0 106.0 103.0 104.0 12 27129269.0 2203.0 4300.0 6503.0 SO:0001583 missense AB032470 CCDS8710.1 12q11-q12 2012-08-10 ENSG00000064115 ENSG00000064115 51768.0 51768.0 23049.0 protein-coding gene gene with protein product 605181 10828615 Standard NM_016551 NM_016551 Approved uc010sjl.2 Q9NS93 OTTHUMG00000169243 ENST00000343028.4:c.1211A>G 12.__UNKNOWN__:g.27129269T>C ENSP00000342322:p.Asp404Gly B3KMZ3|Q9NUS4 __UNKNOWN__ CCDS8710.1 . . . . . . . . . . T 12.59 1.982221 0.34942 . . ENSG00000064115 ENST00000343028;ENST00000545344;ENST00000537406 T 0.31247 1.5 5.18 2.65 0.31530 . 0.266014 0.42821 D 0.000655 T 0.27169 0.0666 L 0.57536 1.79 0.32530 N 0.535032 B 0.31125 0.309 B 0.31946 0.138 T 0.30937 -0.9961 10 0.37606 T 0.19 -9.0661 7.8833 0.29635 0.1355:0.0:0.1412:0.7232 . 404 Q9NS93 TM7S3_HUMAN G 404;118;22 ENSP00000342322:D404G ENSP00000342322:D404G D - 2 0 TM7SF3 27020536 0.967000 0.33354 0.264000 0.24511 0.755000 0.42902 3.477000 0.53151 1.076000 0.40961 0.533000 0.62120 GAT TM7SF3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403033.1 - ENST00000343028.4 Missense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM INTS5 80789 broad.mit.edu 37 11 62416321 62416321 + Missense_Mutation SNP C C A TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr11:62416321C>A ENST00000330574.2 - 2.0 1283 c.1231G>T c.(1231-1233)Gtg>Ttg p.V411L NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 411.0 snRNA processing (GO:0016180) integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020) breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36.0 GCTGTGTCCACCAGGAACTGC 0.617 0 52.0 42.0 46.0 11 62416321.0 2202.0 4299.0 6501.0 SO:0001583 missense AK123587 CCDS8027.1 11q12.3 2006-04-26 2006-03-15 2006-03-15 ENSG00000185085 ENSG00000185085 80789.0 80789.0 29352.0 protein-coding gene gene with protein product 611349 """KIAA1698""" KIAA1698 16239144 Standard NM_030628 NM_030628 Approved INT5 uc001nud.3 Q6P9B9 OTTHUMG00000167605 ENST00000330574.2:c.1231G>T 11.__UNKNOWN__:g.62416321C>A ENSP00000327889:p.Val411Leu Q8N6W5|Q9C0G5 __UNKNOWN__ CCDS8027.1 . . . . . . . . . . C 1.337 -0.595216 0.03771 . . ENSG00000185085 ENST00000330574 . . . 4.78 4.78 0.61160 . 0.141221 0.48286 D 0.000198 T 0.15478 0.0373 N 0.02539 -0.55 0.31677 N 0.643637 B 0.06786 0.001 B 0.04013 0.001 T 0.14117 -1.0484 9 0.02654 T 1 . 11.0987 0.48161 0.0:0.8131:0.1869:0.0 . 411 Q6P9B9 INT5_HUMAN L 411 . ENSP00000327889:V411L V - 1 0 INTS5 62172897 0.994000 0.37717 1.000000 0.80357 0.994000 0.84299 1.521000 0.35910 2.487000 0.83934 0.650000 0.86243 GTG INTS5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395327.1 - ENST00000330574.2 Missense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM TGFBRAP1 9392 broad.mit.edu 37 2 105924111 105924111 + Silent SNP T T A TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr2:105924111T>A ENST00000393359.2 - 2.0 1074 c.648A>T c.(646-648)atA>atT p.I216I TGFBRAP1_ENST00000258449.1_Silent_p.I216I Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 216.0 CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}. intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|membrane (GO:0016020) SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160) central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31.0 CCTGTCTCCCTATCCTCTTGA 0.587 Esophageal Squamous(183;794 2019 9730 21801 48859) 0 98.0 112.0 107.0 2 105924111.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF022795 CCDS2067.1 2q12.1 2008-02-05 ENSG00000135966 ENSG00000135966 9392.0 9392.0 16836.0 protein-coding gene gene with protein product 606237 9545258, 11278302 Standard NM_004257 NM_001142621 Approved TRAP-1, TRAP1 uc002tcr.4 Q8WUH2 OTTHUMG00000130809 ENST00000393359.2:c.648A>T 2.__UNKNOWN__:g.105924111T>A A8K5R7|D3DVJ8|O60466 __UNKNOWN__ CCDS2067.1 TGFBRAP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253354.2 - ENST00000393359.2 Silent SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM CTC-326K19.6 114132 broad.mit.edu 37 19 50461638 50461638 + Missense_Mutation SNP A A G TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr19:50461638A>G ENST00000451973.1 - 1.0 10 c.11T>C c.(10-12)cTg>cCg p.L4P SIGLEC11_ENST00000426971.2_Intron|SIGLEC11_ENST00000447370.2_Missense_Mutation_p.L518P ATGGAGGCTCAGGGAGCTGTT 0.677 0 26.0 30.0 28.0 19 50461638.0 2202.0 4297.0 6499.0 SO:0001583 missense ENST00000451973.1:c.11T>C 19.__UNKNOWN__:g.50461638A>G ENSP00000391489:p.Leu4Pro __UNKNOWN__ . . . . . . . . . . A 16.60 3.167107 0.57476 . . ENSG00000161640 ENST00000447370 D 0.91577 -2.87 2.86 2.86 0.33363 . 0.000000 0.42294 D 0.000721 D 0.94827 0.8329 M 0.89214 3.015 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.94017 0.7289 9 . . . . 7.8527 0.29464 1.0:0.0:0.0:0.0 . 518 Q96RL6 SIG11_HUMAN P 518 ENSP00000412361:L518P . L - 2 0 SIGLEC11 55153450 0.994000 0.37717 1.000000 0.80357 0.965000 0.64279 1.353000 0.34045 1.267000 0.44247 0.454000 0.30748 CTG CTC-326K19.6-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay protein_coding OTTHUMT00000465006.1 - ENST00000451973.1 Missense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM TTLL6 284076 broad.mit.edu 37 17 46847140 46847140 + Missense_Mutation SNP G G A TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr17:46847140G>A ENST00000393382.3 - 14.0 2501 c.2360C>T c.(2359-2361)tCc>tTc p.S787F TTLL6_ENST00000433608.2_Missense_Mutation_p.S480F NM_001130918.1 NP_001124390.1 tubulin tyrosine ligase-like family, member 6 endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18.0 TGGGAAGAAGGAGAGCTTCCC 0.507 0 130.0 116.0 121.0 17 46847140.0 2203.0 4300.0 6503.0 SO:0001583 missense AK093127 CCDS11537.2, CCDS45724.1 17q21.32 2013-02-14 ENSG00000170703 ENSG00000170703 284076.0 284076.0 """Tubulin tyrosine ligase-like family""" 26664.0 protein-coding gene gene with protein product 610849 15890843 Standard NM_173623 NM_173623 Approved FLJ35808 uc021tzm.1 Q8N841 OTTHUMG00000156978 ENST00000393382.3:c.2360C>T 17.__UNKNOWN__:g.46847140G>A ENSP00000377043:p.Ser787Phe __UNKNOWN__ CCDS45724.1 . . . . . . . . . . G 15.20 2.762597 0.49574 . . ENSG00000170703 ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382 . . . 4.62 0.455 0.16649 . . . . . T 0.38480 0.1042 L 0.51422 1.61 0.09310 N 1 B;B 0.14805 0.005;0.011 B;B 0.15052 0.005;0.012 T 0.37126 -0.9719 8 0.59425 D 0.04 . 6.3322 0.21276 0.4125:0.0:0.5875:0.0 . 739;480 Q8N841;G5E937 TTLL6_HUMAN;. F 787;480;465;739 . ENSP00000302547:S480F S - 2 0 TTLL6 44202139 0.179000 0.23135 0.001000 0.08648 0.178000 0.23041 1.160000 0.31761 0.289000 0.22422 0.655000 0.94253 TCC TTLL6-003 KNOWN downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346939.3 - ENST00000393382.3 Missense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM PLCH1 23007 broad.mit.edu 37 3 155200763 155200763 + Missense_Mutation SNP A A T TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr3:155200763A>T ENST00000340059.7 - 23.0 3075 c.3076T>A c.(3076-3078)Tca>Aca p.S1026T PLCH1_ENST00000334686.6_Missense_Mutation_p.S988T|PLCH1_ENST00000460012.1_Missense_Mutation_p.S988T|PLCH1_ENST00000414191.1_Missense_Mutation_p.S988T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron NM_001130960.1 NP_001124432.1 Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1026.0 Poly-Ser. inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871) 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) 107.0 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GAGGAGGATGATAACTTTTTG 0.418 0 152.0 155.0 154.0 3 155200763.0 2203.0 4300.0 6503.0 SO:0001583 missense AB028992 CCDS33881.1, CCDS46939.1, CCDS46940.1 3q25 2013-01-10 2006-03-16 2006-03-16 ENSG00000114805 ENSG00000114805 23007.0 23007.0 3.1.4.11 """EF-hand domain containing""" 29185.0 protein-coding gene gene with protein product 612835 """phospholipase C-like 3""" PLCL3 15702972 Standard NM_014996 NM_014996 Approved KIAA1069, MGC117152, DKFZp434C1372, PLCeta1 uc021xge.1 Q4KWH8 OTTHUMG00000158477 ENST00000340059.7:c.3076T>A 3.__UNKNOWN__:g.155200763A>T ENSP00000345988:p.Ser1026Thr Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3 __UNKNOWN__ CCDS46939.1 . . . . . . . . . . A 10.80 1.452335 0.26074 . . ENSG00000114805 ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191 T;T;T;T 0.21543 2.0;2.0;2.0;2.0 5.03 3.87 0.44632 . 1.547940 0.02757 N 0.118195 T 0.22742 0.0549 L 0.44542 1.39 0.09310 N 1 B;B 0.25772 0.112;0.134 B;B 0.17722 0.019;0.018 T 0.30707 -0.9969 10 0.30078 T 0.28 . 10.9108 0.47108 0.9254:0.0:0.0745:0.0 . 988;1026 Q4KWH8-2;Q4KWH8 .;PLCH1_HUMAN T 988;1026;988;988 ENSP00000417502:S988T;ENSP00000345988:S1026T;ENSP00000335469:S988T;ENSP00000412977:S988T ENSP00000335469:S988T S - 1 0 PLCH1 156683457 0.577000 0.26708 0.559000 0.28332 0.460000 0.32559 1.077000 0.30741 0.865000 0.35603 0.482000 0.46254 TCA PLCH1-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000351125.1 - ENST00000340059.7 Missense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM RET 5979 broad.mit.edu 37 10 43617416 43617416 + Missense_Mutation SNP T T C rs74799832 TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr10:43617416T>C ENST00000355710.3 + 16.0 2985 c.2753T>C c.(2752-2754)aTg>aCg p.M918T RET_ENST00000340058.5_Missense_Mutation_p.M918T NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 918.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. M -> T (in MEN2B and MTC; sporadic form; somatic mutation; also found in a patient with renal agenesis; dbSNP:rs74799832). {ECO:0000269|PubMed:18252215, ECO:0000269|PubMed:7906417, ECO:0000269|PubMed:7906866, ECO:0000269|PubMed:7911697, ECO:0000269|PubMed:8595427, ECO:0000269|PubMed:8807338}. activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657) endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) p.M918T(247) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607.0 Ovarian(717;0.0423) Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398) GTTAAATGGATGGCAATTGAA 0.443 1.0 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149) yes Dom yes Multiple endocrine neoplasia 2A/2B 10 10q11.2 5979.0 ret proto-oncogene yes """E, O""" 247 Substitution - Missense(247) thyroid(231)|adrenal_gland(16) GRCh37 CM941246 RET M rs74799832 262.0 244.0 250.0 10 43617416.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC BC004257 CCDS7200.1, CCDS53525.1 10q11.2 2014-09-17 2007-02-16 ENSG00000165731 ENSG00000165731 5979.0 5979.0 """Cadherins / Cadherin-related""" 9967.0 protein-coding gene gene with protein product """cadherin-related family member 16""" 164761 """multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1""" HSCR1, MEN2A, MTC1, MEN2B 2687772, 1611909 Standard NM_020975 NM_020975 Approved PTC, CDHF12, RET51, CDHR16 uc001jal.3 P07949 OTTHUMG00000018024 ENST00000355710.3:c.2753T>C 10.__UNKNOWN__:g.43617416T>C ENSP00000347942:p.Met918Thr A8K6Z2|Q15250|Q9BTB0|Q9H4A2 __UNKNOWN__ CCDS7200.1 . . . . . . . . . . T 23.5 4.427864 0.83667 . . ENSG00000165731 ENST00000355710;ENST00000340058 D;D 0.90504 -2.68;-2.68 5.43 5.43 0.79202 Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 D 0.93719 0.7993 L 0.52126 1.63 0.80722 A 1 D;D;D 0.89917 0.999;0.999;1.0 D;D;D 0.97110 0.999;1.0;1.0 D 0.94557 0.7759 9 0.87932 D 0 . 15.7766 0.78224 0.0:0.0:0.0:1.0 . 664;918;918 B4DGX8;P07949;P07949-2 .;RET_HUMAN;. T 918 ENSP00000347942:M918T;ENSP00000344798:M918T ENSP00000344798:M918T M + 2 0 RET 42937422 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 7.986000 0.88173 2.198000 0.70561 0.533000 0.62120 ATG RET-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000047694.2 + ENST00000355710.3 Missense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM ARL6IP4 51329 broad.mit.edu 37 12 123466570 123466570 + Missense_Mutation SNP C C T TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr12:123466570C>T ENST00000439686.2 + 4.0 588 c.512C>T c.(511-513)gCc>gTc p.A171V ARL6IP4_ENST00000426960.2_Missense_Mutation_p.A160V|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000453766.2_Missense_Mutation_p.A294V|ARL6IP4_ENST00000392435.2_Missense_Mutation_p.A283V|ARL6IP4_ENST00000454885.2_Missense_Mutation_p.A168V|ARL6IP4_ENST00000543566.1_Missense_Mutation_p.A283V|ARL6IP4_ENST00000357866.4_Intron|ARL6IP4_ENST00000315580.5_Missense_Mutation_p.A302V|ARL6IP4_ENST00000412505.2_Intron Q66PJ3 AR6P4_HUMAN ADP-ribosylation factor-like 6 interacting protein 4 363.0 mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107) GAGTGGGATGCCCGGCAGAGC 0.622 0 65.0 62.0 63.0 12 123466570.0 2203.0 4300.0 6503.0 SO:0001583 missense AB035384 CCDS31923.1, CCDS41856.1, CCDS45004.1, CCDS53843.1, CCDS61273.1, CCDS31923.2, CCDS41856.2, CCDS45004.2, CCDS53843.2 12q24.31 2014-05-12 2014-05-12 ENSG00000182196 ENSG00000182196 51329.0 51329.0 18076.0 protein-coding gene gene with protein product """SRp25 nuclear protein"", ""splicing factor, arginine/serine-rich 20""" 607668 """ADP-ribosylation-like factor 6 interacting protein 4""" 10708573, 11884129 Standard NM_018694 NM_018694 Approved SR-25, SRp25, SFRS20, SRrp37 uc001ued.3 Q66PJ3 OTTHUMG00000168779 ENST00000439686.2:c.512C>T 12.__UNKNOWN__:g.123466570C>T ENSP00000396365:p.Ala171Val A4UCR8|B3V0L0|B3V0L1|Q4F966|Q504R8|Q96BI2|Q9NR05|Q9P2R9 __UNKNOWN__ . . . . . . . . . . C 36 5.600602 0.96614 . . ENSG00000182196 ENST00000543566;ENST00000315580;ENST00000542099;ENST00000392435;ENST00000413381;ENST00000426960;ENST00000453766;ENST00000454885;ENST00000439686;ENST00000456762 T;T;T;T;T;T;T;T;T;T 0.56275 0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47 5.31 5.31 0.75309 . 0.000000 0.85682 D 0.000000 T 0.73297 0.3569 M 0.74881 2.28 0.80722 D 1 D;D;D;D;D 0.76494 0.992;0.999;0.999;0.999;0.999 P;D;D;D;D 0.70935 0.85;0.951;0.971;0.971;0.951 T 0.76421 -0.2965 10 0.72032 D 0.01 . 18.9825 0.92760 0.0:1.0:0.0:0.0 . 168;283;283;302;294 B3V0L1;Q66PJ3-4;B3V0L0;Q66PJ3;Q66PJ3-2 .;.;.;AR6P4_HUMAN;. V 283;302;291;283;171;160;294;168;171;161 ENSP00000442718:A283V;ENSP00000313422:A302V;ENSP00000442200:A291V;ENSP00000376230:A283V;ENSP00000441406:A171V;ENSP00000406036:A160V;ENSP00000414847:A294V;ENSP00000396723:A168V;ENSP00000396365:A171V;ENSP00000391598:A161V ENSP00000313422:A302V A + 2 0 ARL6IP4 122032523 1.000000 0.71417 0.757000 0.31301 0.772000 0.43724 5.713000 0.68415 2.475000 0.83589 0.561000 0.74099 GCC ARL6IP4-019 PUTATIVE basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000401045.1 + ENST00000439686.2 Missense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM FAM72B 653820 broad.mit.edu 37 1 120854564 120854564 + Nonsense_Mutation SNP C C A TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr1:120854564C>A ENST00000369390.3 + 4.0 1257 c.428C>A c.(427-429)tCa>tAa p.S143* FAM72B_ENST00000471903.2_3'UTR|FAM72B_ENST00000355228.4_Nonsense_Mutation_p.S103* NM_001100910.1 NP_001094380.1 Q86X60 FA72B_HUMAN family with sequence similarity 72, member B 143.0 large_intestine(1)|lung(2) 3.0 all_neural(166;0.181) all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068) Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19) TTAAATATCTCAGCAGAGGAG 0.269 0 50.0 50.0 50.0 1 120854564.0 1777.0 4036.0 5813.0 SO:0001587 stop_gained AL357493 CCDS72848.1 1p12 2014-05-06 ENSG00000188610 ENSG00000188610 653820.0 653820.0 24805.0 protein-coding gene gene with protein product 614711 Standard NM_001100910 Approved RP11-439A17.6 uc009whp.3 Q86X60 OTTHUMG00000185025 ENST00000369390.3:c.428C>A 1.__UNKNOWN__:g.120854564C>A ENSP00000358397:p.Ser143* B2RPQ5|Q5QP15 __UNKNOWN__ CCDS41374.1 . . . . . . . . . . C 24.7 4.562402 0.86335 . . ENSG00000188610 ENST00000369392;ENST00000369390;ENST00000452190;ENST00000355228 . . . 2.63 2.63 0.31362 . 0.210193 0.32836 U 0.005587 . . . . . . 0.48696 D 0.999691 . . . . . . . . . . 0.02654 T 1 . 8.8378 0.35123 0.0:1.0:0.0:0.0 . . . . X 114;143;114;103 . ENSP00000347368:S103X S + 2 0 FAM72B 120656087 1.000000 0.71417 0.997000 0.53966 0.990000 0.78478 3.818000 0.55678 1.487000 0.48415 0.398000 0.26397 TCA FAM72B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000098437.1 + ENST00000369390.3 Nonsense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM TOP3B 8940 ucsc.edu 37 22 22330039 22330039 + Nonsense_Mutation SNP G G A TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr22:22330039G>A ENST00000398793.2 - 2.0 477 c.43C>T c.(43-45)Cag>Tag p.Q15* TOP3B_ENST00000413067.2_5'UTR|TOP3B_ENST00000357179.5_Nonsense_Mutation_p.Q15* NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 15.0 Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}. chromosome segregation (GO:0007059)|DNA topological change (GO:0006265) condensed chromosome (GO:0000793)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26.0 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) GCAATTGACTGTGCCAAGGAC 0.463 0 105.0 81.0 89.0 22 22330039.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AF017146 CCDS13797.1 22q11.22 2011-05-24 ENSG00000100038 ENSG00000100038 8940.0 8940.0 11993.0 protein-coding gene gene with protein product 603582 9786842, 9074928 Standard NM_003935 XM_005261811 Approved uc002zvs.3 O95985 OTTHUMG00000167438 ENST00000398793.2:c.43C>T 22.__UNKNOWN__:g.22330039G>A ENSP00000381773:p.Gln15* A0M8Q3|Q9BUP5 __UNKNOWN__ CCDS13797.1 . . . . . . . . . . g 42 9.247968 0.99113 . . ENSG00000100038 ENST00000357179;ENST00000398793;ENST00000449517;ENST00000424393;ENST00000437929;ENST00000430142;ENST00000456075;ENST00000449704;ENST00000442653;ENST00000437103;ENST00000434517 . . . 5.51 5.51 0.81932 . 0.123835 0.56097 D 0.000036 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.07813 T 0.8 -0.0657 19.0272 0.92937 0.0:0.0:1.0:0.0 . . . . X 15 . ENSP00000349705:Q15X Q - 1 0 TOP3B 20660039 1.000000 0.71417 0.996000 0.52242 0.926000 0.56050 8.348000 0.90064 2.598000 0.87819 0.563000 0.77884 CAG TOP3B-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320251.1 - ENST00000398793.2 Nonsense_Mutation SNP PCPG-TCGA-WB-A80V-Normal-SM-5EMLM TNR 7143 broad.mit.edu 37 1 175375785 175375785 + Silent SNP C C T TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr1:175375785C>T ENST00000367674.2 - 3.0 774 c.66G>A c.(64-66)ctG>ctA p.L22L TNR_ENST00000263525.2_Silent_p.L22L Q92752 TENR_HUMAN tenascin R 22.0 associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177.0 Renal(580;0.146) TCATGGAGCCCAGAAGGATCA 0.542 0 182.0 161.0 168.0 1 175375785.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X98085 CCDS1318.1 1q24 2013-02-11 2012-07-12 ENSG00000116147 ENSG00000116147 7143.0 7143.0 """Fibrinogen C domain containing"", ""Fibronectin type III domain containing""" 11953.0 protein-coding gene gene with protein product """restrictin"", ""janusin""" 601995 8626505, 8940128 Standard NM_003285 NM_003285 Approved uc009wwu.1 Q92752 OTTHUMG00000034876 ENST00000367674.2:c.66G>A 1.__UNKNOWN__:g.175375785C>T C9J563|Q15568|Q5R3G0 __UNKNOWN__ CCDS1318.1 TNR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000084414.4 - ENST00000367674.2 Silent SNP PCPG-TCGA-WB-A80Y-Normal-SM-5EMMJ GOLGA8DP 0 broad.mit.edu 37 15 22709637 22709637 + RNA SNP T T G rs140467724 by1000genomes TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr15:22709637T>G ENST00000314246.8 - 0.0 1147 Q0D2H9 GOG8D_HUMAN golgin A8 family, member D, pseudogene Golgi apparatus (GO:0005794) CCCATCTGGTTTTTGAGTTTG 0.547 0 15q11.2 2014-04-10 2011-04-15 2010-02-12 ENSG00000185182 ENSG00000185182 100132979.0 100132979.0 32376.0 pseudogene pseudogene """golgi autoantigen, golgin subfamily a, 8D""" GOLGA8D 12477932 Standard NR_027407 NR_027407 Approved uc010axw.2 Q0D2H9 OTTHUMG00000171882 ENST00000314246.8: 15.__UNKNOWN__:g.22709637T>G __UNKNOWN__ . . . . . . . . . . t 4.705 0.131021 0.08981 . . ENSG00000185182 ENST00000341390;ENST00000314246;ENST00000317692 . . . 0.921 0.921 0.19403 . . . . . T 0.23330 0.0564 . . . . . . B 0.10296 0.003 B 0.08055 0.003 T 0.20773 -1.0265 6 0.25751 T 0.34 . 4.1761 0.10353 0.0:0.0:0.0:1.0 . 84 F8WBT8 . H 84;84;302 . ENSP00000327024:N84H N - 1 0 AC116165.1 20261001 0.018000 0.18449 0.020000 0.16555 0.004000 0.04260 2.215000 0.42862 0.684000 0.31448 0.228000 0.17796 AAC GOLGA8DP-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000415613.1 - ENST00000314246.8 RNA SNP PCPG-TCGA-WB-A80Y-Normal-SM-5EMMJ NDEL1 81565 broad.mit.edu 37 17 8351942 8351942 + Missense_Mutation SNP G G A TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr17:8351942G>A ENST00000380025.4 + 5.0 622 c.464G>A c.(463-465)aGt>aAt p.S155N NDEL1_ENST00000299734.7_Missense_Mutation_p.S155N|NDEL1_ENST00000402554.3_Missense_Mutation_p.S155N|NDEL1_ENST00000334527.7_Missense_Mutation_p.S155N|NDEL1_ENST00000585098.1_Intron Q9GZM8 NDEL1_HUMAN nudE neurodevelopment protein 1-like 1 155.0 Interaction with KATNB1. {ECO:0000250}.|Self-association. {ECO:0000250}. activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496) axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730) oligopeptidase activity (GO:0070012) large_intestine(6)|lung(4)|skin(3) 13.0 TTTTTAGAAAGTGAACTTGAT 0.343 0 80.0 81.0 80.0 17 8351942.0 2203.0 4300.0 6503.0 SO:0001583 missense AF182078 CCDS11143.1, CCDS32564.1 17p13.1 2013-08-06 2013-08-06 2003-04-16 ENSG00000166579 ENSG00000166579 81565.0 81565.0 17620.0 protein-coding gene gene with protein product 607538 """nudE nuclear distribution gene E homolog (A. nidulans)-like 1"", ""nudE nuclear distribution E homolog (A. nidulans)-like 1""" 11163260, 11163259 Standard NM_030808 NM_001025579 Approved NUDEL, MITAP1, NDE1L1, NDE2 uc002glj.4 Q9GZM8 OTTHUMG00000108193 ENST00000380025.4:c.464G>A 17.__UNKNOWN__:g.8351942G>A ENSP00000369364:p.Ser155Asn B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50 __UNKNOWN__ . . . . . . . . . . G 17.97 3.517402 0.64634 . . ENSG00000166579 ENST00000299734;ENST00000380025;ENST00000402554;ENST00000334527 . . . 4.76 4.76 0.60689 NUDE protein, C-terminal (1); 0.000000 0.85682 D 0.000000 T 0.59004 0.2162 L 0.50333 1.59 0.80722 D 1 B;B 0.27229 0.172;0.07 B;B 0.28232 0.087;0.056 T 0.57142 -0.7862 9 0.33940 T 0.23 -3.4062 17.9541 0.89063 0.0:0.0:1.0:0.0 . 155;155 Q9GZM8;A6NIZ0 NDEL1_HUMAN;. N 155;155;210;155 . ENSP00000299734:S155N S + 2 0 NDEL1 8292667 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.567000 0.98161 2.471000 0.83476 0.655000 0.94253 AGT NDEL1-003 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000442478.1 + ENST00000380025.4 Missense_Mutation SNP PCPG-TCGA-WB-A80Y-Normal-SM-5EMMJ DSTYK 25778 broad.mit.edu 37 1 205138795 205138795 + Missense_Mutation SNP A A G TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr1:205138795A>G ENST00000367162.3 - 3.0 850 c.820T>C c.(820-822)Ttt>Ctt p.F274L DSTYK_ENST00000367160.4_Missense_Mutation_p.F274L|DSTYK_ENST00000367161.3_Missense_Mutation_p.F274L NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 274.0 cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713) breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14.0 AATACAGGAAAGGAGAAATAC 0.453 0 75.0 74.0 74.0 1 205138795.0 2203.0 4300.0 6503.0 SO:0001583 missense AF068286 CCDS1451.1, CCDS1452.1 1q32 2008-12-18 2008-12-18 2008-12-18 ENSG00000133059 ENSG00000133059 25778.0 25778.0 29043.0 protein-coding gene gene with protein product 612666 """receptor interacting protein kinase 5""" RIPK5 15178406 Standard NM_015375 NM_015375 Approved KIAA0472, DustyPK, RIP5 uc001hbw.3 Q6XUX3 OTTHUMG00000037102 ENST00000367162.3:c.820T>C 1.__UNKNOWN__:g.205138795A>G ENSP00000356130:p.Phe274Leu B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5 __UNKNOWN__ CCDS1451.1 . . . . . . . . . . A 8.816 0.936332 0.18206 . . ENSG00000133059 ENST00000367160;ENST00000367161;ENST00000367162 T;T;T 0.75477 -0.54;-0.87;-0.94 5.36 2.86 0.33363 . 0.254818 0.40554 N 0.001079 T 0.40372 0.1114 N 0.03071 -0.42 0.31330 N 0.684977 B;B 0.10296 0.003;0.002 B;B 0.10450 0.005;0.002 T 0.39418 -0.9615 10 0.07482 T 0.82 -5.6068 3.9388 0.09318 0.5989:0.1923:0.2087:0.0 . 274;274 Q6XUX3-2;Q6XUX3 .;DUSTY_HUMAN L 274 ENSP00000356128:F274L;ENSP00000356129:F274L;ENSP00000356130:F274L ENSP00000356128:F274L F - 1 0 DSTYK 203405418 0.962000 0.33011 0.994000 0.49952 0.993000 0.82548 1.224000 0.32539 2.022000 0.59522 0.459000 0.35465 TTT DSTYK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090345.1 - ENST00000367162.3 Missense_Mutation SNP PCPG-TCGA-WB-A80Y-Normal-SM-5EMMJ PSD3 23362 broad.mit.edu 37 8 18490305 18490305 + Missense_Mutation SNP T T C TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr8:18490305T>C ENST00000327040.8 - 11.0 2330 c.2228A>G c.(2227-2229)gAg>gGg p.E743G PSD3_ENST00000286485.8_Missense_Mutation_p.E209G|PSD3_ENST00000440756.2_Missense_Mutation_p.E745G|PSD3_ENST00000523619.1_Missense_Mutation_p.E678G|PSD3_ENST00000428502.2_Missense_Mutation_p.E72G NM_015310.3 NP_056125.3 Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 744.0 neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012) cell junction (GO:0030054)|postsynaptic membrane (GO:0045211) ARF guanyl-nucleotide exchange factor activity (GO:0005086) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20.0 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) CTTTTTTTTCTCTTCATCATC 0.358 0 123.0 100.0 108.0 8 18490305.0 2203.0 4300.0 6503.0 SO:0001583 missense AF243495 CCDS34854.1, CCDS43720.1 8p21.3 2013-01-10 ENSG00000156011 ENSG00000156011 23362.0 23362.0 """Pleckstrin homology (PH) domain containing""" 19093.0 protein-coding gene gene with protein product 614440 Standard NM_015310 NM_206909 Approved KIAA0942, HCA67, EFA6R, DKFZp761K1423 uc003wza.3 Q9NYI0 OTTHUMG00000163711 ENST00000327040.8:c.2228A>G 8.__UNKNOWN__:g.18490305T>C ENSP00000324127:p.Glu743Gly A6NFQ4|E9KL50|Q6B003|Q9Y2F1 __UNKNOWN__ CCDS43720.1 . . . . . . . . . . T 15.33 2.802837 0.50315 . . ENSG00000156011 ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619 T;T;T;T 0.20463 2.69;2.7;2.07;2.69 5.93 5.93 0.95920 SEC7-like, alpha orthogonal bundle (1); 0.116282 0.31589 U 0.007390 T 0.31231 0.0790 M 0.67397 2.05 0.42010 D 0.99093 B;B;B;P 0.38420 0.102;0.102;0.002;0.63 B;B;B;P 0.45660 0.082;0.082;0.007;0.489 T 0.07385 -1.0775 10 0.51188 T 0.08 . 10.3985 0.44216 0.0:0.0:0.164:0.836 . 743;744;209;72 E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8 .;PSD3_HUMAN;.;. G 743;745;72;209;72;678 ENSP00000324127:E743G;ENSP00000401704:E745G;ENSP00000286485:E209G;ENSP00000430640:E678G ENSP00000286485:E209G E - 2 0 PSD3 18534585 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 4.605000 0.61119 2.265000 0.75225 0.533000 0.62120 GAG PSD3-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000374867.1 - ENST00000327040.8 Missense_Mutation SNP PCPG-TCGA-WB-A80Y-Normal-SM-5EMMJ LIG1 3978 broad.mit.edu 37 19 48647153 48647153 + Missense_Mutation SNP T T C TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr19:48647153T>C ENST00000263274.7 - 10.0 1263 c.844A>G c.(844-846)Aaa>Gaa p.K282E LIG1_ENST00000427526.2_Missense_Mutation_p.K251E|LIG1_ENST00000536218.1_Missense_Mutation_p.K214E NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 282.0 anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283) chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872) breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44.0 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) TGGCCCGGTTTCCAGCAGGCA 0.532 Nucleotide excision repair (NER) 0 133.0 138.0 136.0 19 48647153.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS12711.1, CCDS74409.1, CCDS74410.1 19q13.2-q13.3 2014-09-17 ENSG00000105486 3978.0 3978.0 6.5.1.1 6598.0 protein-coding gene gene with protein product 126391 Standard NM_000234 XM_005258934 Approved uc002pia.1 P18858 ENST00000263274.7:c.844A>G 19.__UNKNOWN__:g.48647153T>C ENSP00000263274:p.Lys282Glu B2RAI8|Q2TB12|Q32P23 __UNKNOWN__ CCDS12711.1 . . . . . . . . . . T 14.19 2.459998 0.43736 . . ENSG00000105486 ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218;ENST00000542460 T;T;T;T 0.20200 2.09;2.09;2.09;2.09 4.88 3.77 0.43336 DNA ligase, ATP-dependent, N-terminal (2); 0.638567 0.15925 N 0.237928 T 0.18551 0.0445 L 0.56769 1.78 0.39974 D 0.974821 B;B;B 0.11235 0.002;0.004;0.001 B;B;B 0.15484 0.006;0.013;0.006 T 0.09422 -1.0675 10 0.29301 T 0.29 -9.0773 5.232 0.15426 0.1758:0.0:0.1829:0.6413 . 251;214;282 B4DTU4;F5GZ28;P18858 .;.;DNLI1_HUMAN E 282;313;251;214;250 ENSP00000263274:K282E;ENSP00000442841:K251E;ENSP00000441531:K214E;ENSP00000445928:K250E ENSP00000263274:K282E K - 1 0 LIG1 53338965 0.273000 0.24181 0.968000 0.41197 0.982000 0.71751 0.378000 0.20569 2.125000 0.65367 0.533000 0.62120 AAA LIG1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465575.1 - ENST00000263274.7 Missense_Mutation SNP PCPG-TCGA-WB-A80Y-Normal-SM-5EMMJ RP11-423O2.5 0 broad.mit.edu 37 1 142803552 142803552 + RNA SNP T T A rs141013493 by1000genomes TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr1:142803552T>A ENST00000423385.1 - 0.0 1413 TCCTGATGAATCTGCAGTCAG 0.269 0 ENST00000423385.1: 1.__UNKNOWN__:g.142803552T>A __UNKNOWN__ RP11-423O2.5-001 KNOWN basic lincRNA lincRNA OTTHUMT00000193203.1 - ENST00000423385.1 lincRNA SNP PCPG-TCGA-WB-A80Y-Normal-SM-5EMMJ OR52I1 390037 broad.mit.edu 37 11 4615722 4615722 + Missense_Mutation SNP G G A TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr11:4615722G>A ENST00000530443.2 + 1.0 454 c.454G>A c.(454-456)Gtc>Atc p.V152I OR52I1_ENST00000450052.2_Missense_Mutation_p.V176I NM_001005169.1 NP_001005169.1 Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 152.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15.0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GAGTATGGCCGTCACCATCAG 0.488 0 127.0 113.0 118.0 11 4615722.0 2201.0 4298.0 6499.0 SO:0001583 missense BK004371 CCDS59223.1 11p15.4 2012-08-09 ENSG00000232268 390037.0 390037.0 """GPCR / Class A : Olfactory receptors""" 15220.0 protein-coding gene gene with protein product Standard NM_001005169 NM_001005169 Approved uc010qyi.2 Q8NGK6 ENST00000530443.2:c.454G>A 11.__UNKNOWN__:g.4615722G>A ENSP00000436453:p.Val152Ile Q6IF91 __UNKNOWN__ CCDS59223.1 . . . . . . . . . . A 0.001 -2.920623 0.00055 . . ENSG00000232268 ENST00000450052;ENST00000530443 T;T 0.73152 -0.72;-0.72 4.96 3.83 0.44106 GPCR, rhodopsin-like superfamily (1); 0.000000 0.45606 N 0.000347 T 0.34513 0.0900 N 0.00966 -1.09 0.09310 N 1.0 B 0.02656 0.0 B 0.01281 0.0 T 0.32824 -0.9892 9 0.07990 T 0.79 -11.8707 8.0907 0.30799 0.8305:0.0:0.1695:0.0 . 152 Q8NGK6 O52I1_HUMAN I 176;152 ENSP00000409094:V176I;ENSP00000436453:V152I ENSP00000409094:V176I V + 1 0 OR52I1 4572298 0.000000 0.05858 0.029000 0.17559 0.000000 0.00434 -0.745000 0.04834 0.464000 0.27142 -1.263000 0.01449 GTC OR52I1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385947.2 + ENST00000530443.2 Missense_Mutation SNP PCPG-TCGA-WB-A80Y-Normal-SM-5EMMJ IGKV2-24 0 broad.mit.edu 37 2 89476089 89476089 + RNA SNP G G A TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr2:89476089G>A ENST00000484817.1 - 0.0 112 immunoglobulin kappa variable 2-24 TGAGGAGAGTGGAGTCTGGGT 0.448 0 93.0 92.0 92.0 2 89476089.0 1863.0 4105.0 5968.0 X12684 2p11.2 2012-02-08 ENSG00000241294 ENSG00000241294 28923.0 28923.0 """Immunoglobulins / IGK locus""" 5781.0 other immunoglobulin gene Standard NG_000834 NG_000834 Approved OTTHUMG00000151655 ENST00000484817.1: 2.__UNKNOWN__:g.89476089G>A __UNKNOWN__ IGKV2-24-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene IG_V_gene OTTHUMT00000323404.1 - ENST00000484817.1 RNA SNP PCPG-TCGA-WB-A80Y-Normal-SM-5EMMJ CCDC39 339829 broad.mit.edu 37 3 180365982 180365982 + Silent SNP A A G TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr3:180365982A>G ENST00000442201.2 - 10.0 1452 c.1333T>C c.(1333-1335)Ttg>Ctg p.L445L CCDC39_ENST00000273654.4_Silent_p.L529L NM_181426.1 NP_852091.1 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 445.0 axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324) axoneme (GO:0005930)|cytoskeleton (GO:0005856) NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45.0 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TGCTGCTTCAAGGTTTCAAAA 0.343 0 89.0 86.0 87.0 3 180365982.0 1842.0 4084.0 5926.0 SO:0001819 synonymous_variant BC047103 CCDS46964.1 3q26.33 2012-07-27 ENSG00000145075 ENSG00000145075 339829.0 339829.0 25244.0 protein-coding gene gene with protein product 613798 21131972 Standard XM_291028 NM_181426 Approved DKFZp434A128, CILD14, FAP59 uc010hxe.3 Q9UFE4 OTTHUMG00000157857 ENST00000442201.2:c.1333T>C 3.__UNKNOWN__:g.180365982A>G B4E2H1 __UNKNOWN__ CCDS46964.1 CCDC39-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000349783.3 - ENST00000442201.2 Silent SNP PCPG-TCGA-WB-A80Y-Normal-SM-5EMMJ DYNC2H1 79659 broad.mit.edu 37 11 103027262 103027262 + Missense_Mutation SNP A A G TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr11:103027262A>G ENST00000375735.2 + 26.0 4034 c.3890A>G c.(3889-3891)gAt>gGt p.D1297G DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D1297G|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 1297.0 Stem. {ECO:0000250}. antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522) apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774) NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33.0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GACTGGAAAGATATAGTAAAT 0.343 0 96.0 95.0 95.0 11 103027262.0 1833.0 4086.0 5919.0 SO:0001583 missense AB082528 CCDS44717.1, CCDS53701.1 11q21-q22.1 2011-06-02 2005-11-24 2005-11-24 ENSG00000187240 ENSG00000187240 79659.0 79659.0 """Cytoplasmic dyneins""" 2962.0 protein-coding gene gene with protein product 603297 """dynein, cytoplasmic, heavy polypeptide 2""" DNCH2 9763680, 9373155 Standard XM_370652 NM_001080463 Approved hdhc11, DHC2, DHC1b, DYH1B uc001phn.1 Q8NCM8 OTTHUMG00000165941 ENST00000375735.2:c.3890A>G 11.__UNKNOWN__:g.103027262A>G ENSP00000364887:p.Asp1297Gly O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4 __UNKNOWN__ CCDS53701.1 . . . . . . . . . . A 21.5 4.153915 0.78114 . . ENSG00000187240 ENST00000375735;ENST00000398093 T;T 0.62941 -0.01;-0.01 5.27 5.27 0.74061 Dynein heavy chain, domain-2 (1); 0.086607 0.44483 D 0.000441 D 0.82811 0.5118 M 0.90922 3.16 0.58432 D 0.999999 D;D 0.76494 0.998;0.999 D;D 0.72625 0.978;0.976 D 0.87143 0.2204 10 0.87932 D 0 . 15.1907 0.73041 1.0:0.0:0.0:0.0 . 1297;1297 Q8NCM8;Q8NCM8-2 DYHC2_HUMAN;. G 1297 ENSP00000364887:D1297G;ENSP00000381167:D1297G ENSP00000364887:D1297G D + 2 0 DYNC2H1 102532472 1.000000 0.71417 0.974000 0.42286 0.961000 0.63080 8.730000 0.91510 2.001000 0.58596 0.460000 0.39030 GAT DYNC2H1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387196.1 + ENST00000375735.2 Missense_Mutation SNP PCPG-TCGA-WB-A80Y-Normal-SM-5EMMJ CPT1C 126129 broad.mit.edu 37 19 50208514 50208514 + Missense_Mutation SNP A A G TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr19:50208514A>G ENST00000392518.4 + 10.0 1295 c.923A>G c.(922-924)gAg>gGg p.E308G CPT1C_ENST00000323446.5_Missense_Mutation_p.E308G|CPT1C_ENST00000598293.1_Missense_Mutation_p.E308G|CPT1C_ENST00000405931.2_Missense_Mutation_p.E297G|CPT1C_ENST00000354199.5_Missense_Mutation_p.E308G NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 308.0 carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635) alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202) carnitine O-palmitoyltransferase activity (GO:0004095) breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27.0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GCCCAGTACGAGAAGATCTTC 0.562 0 162.0 147.0 152.0 19 50208514.0 2203.0 4300.0 6503.0 SO:0001583 missense AF357970 CCDS12779.1, CCDS46147.1 19q13.33 2014-03-14 ENSG00000169169 126129.0 126129.0 18540.0 protein-coding gene gene with protein product 608846 12376098, 11001805 Standard NM_152359 NM_001136052 Approved FLJ23809, CPTIC, CPT1P uc010eng.3 Q8TCG5 ENST00000392518.4:c.923A>G 19.__UNKNOWN__:g.50208514A>G ENSP00000376303:p.Glu308Gly A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84 __UNKNOWN__ CCDS12779.1 . . . . . . . . . . A 21.6 4.177452 0.78564 . . ENSG00000169169 ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404 D;D;D;D 0.89939 -2.59;-2.59;-2.59;-2.59 4.34 3.25 0.37280 . 0.259343 0.27563 N 0.018818 D 0.90587 0.7049 L 0.49126 1.545 0.42783 D 0.99387 P;D;P;P 0.76494 0.942;0.999;0.95;0.78 P;D;P;P 0.66351 0.824;0.943;0.662;0.864 D 0.90523 0.4490 10 0.87932 D 0 -31.7339 8.7521 0.34622 0.8922:0.0:0.1078:0.0 . 179;308;297;308 C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5 .;.;.;CPT1C_HUMAN G 308;308;297;308;179 ENSP00000376303:E308G;ENSP00000346138:E308G;ENSP00000384465:E297G;ENSP00000319343:E308G ENSP00000295404:E179G E + 2 0 CPT1C 54900326 1.000000 0.71417 0.998000 0.56505 0.954000 0.61252 5.175000 0.65021 1.833000 0.53350 0.459000 0.35465 GAG CPT1C-008 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465873.1 + ENST00000392518.4 Missense_Mutation SNP PCPG-TCGA-WB-A80Y-Normal-SM-5EMMJ DHRSX 207063 broad.mit.edu 37 X 2161267 2161267 + Missense_Mutation SNP A A T TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chrX:2161267A>T ENST00000334651.5 - 6.0 653 c.601T>A c.(601-603)Tgc>Agc p.C201S NM_145177.2 NP_660160.2 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 201.0 oxidoreductase activity (GO:0016491) endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1) 16.0 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) GGTGAGTAGCAGGCACTGTGG 0.637 0 117.0 99.0 105.0 X 2161267.0 2203.0 4296.0 6499.0 SO:0001583 missense AJ293620 CCDS35195.1 Xp22.33 and Yp11.2 2014-05-07 2003-09-12 ENSG00000169084 ENSG00000169084 207063.0 207063.0 """Pseudoautosomal regions / PAR1""" 18399.0 protein-coding gene gene with protein product """short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked""" """dehydrogenase/reductase (SDR family) X chromosome""" 11731500, 19027726 Standard NM_145177 NM_145177 Approved DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6 uc004cqf.4 Q8N5I4 OTTHUMG00000021068 ENST00000334651.5:c.601T>A X.__UNKNOWN__:g.2161267A>T ENSP00000334113:p.Cys201Ser Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6 __UNKNOWN__ CCDS35195.1 . . . . . . . . . . A 0.018 -1.483947 0.01027 . . ENSG00000169084 ENST00000334651;ENST00000412516 D;D 0.94613 -3.47;-3.47 1.45 1.45 0.22620 Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1); 0.600252 0.16489 U 0.212194 T 0.75125 0.3807 N 0.00424 -1.51 0.18873 N 0.999984 B 0.12013 0.005 B 0.12156 0.007 T 0.69150 -0.5221 10 0.02654 T 1 . 8.589 0.33674 1.0:0.0:0.0:0.0 . 201 Q8N5I4 DHRSX_HUMAN S 201;178 ENSP00000334113:C201S;ENSP00000391778:C178S ENSP00000334113:C201S C - 1 0 DHRSX 2171267 0.008000 0.16893 0.340000 0.25575 0.304000 0.27724 -0.671000 0.05250 0.357000 0.24183 0.046000 0.15203 TGC DHRSX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055617.3 - ENST00000334651.5 Missense_Mutation SNP PCPG-TCGA-WB-A80Y-Normal-SM-5EMMJ TKT 7086 ucsc.edu 37 3 53267233 53267233 + Silent SNP G G A TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr3:53267233G>A ENST00000462138.1 - 6.0 775 c.687C>T c.(685-687)ggC>ggT p.G229G TKT_ENST00000423525.2_Silent_p.G229G|TKT_ENST00000423516.1_Silent_p.G237G|TKT_ENST00000296289.6_Silent_p.G182G P29401 TKT_HUMAN transketolase 229.0 LCKAFGQ -> AVQGLCE (in Ref. 9; AA sequence). {ECO:0000305}. carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982) cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802) endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17.0 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) GCTTGGCCTGGCCAAAGGCCT 0.622 Colon(133;1506 2347 35238 42177) 0 100.0 84.0 89.0 3 53267233.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS2871.1, CCDS58834.1 3p14.3 2008-07-31 2008-07-31 ENSG00000163931 ENSG00000163931 7086.0 7086.0 2.2.1.1 11834.0 protein-coding gene gene with protein product """Wernicke-Korsakoff syndrome""" 606781 1567394 Standard NM_001064 Approved uc011beq.2 P29401 OTTHUMG00000158192 ENST00000462138.1:c.687C>T 3.__UNKNOWN__:g.53267233G>A A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3 __UNKNOWN__ CCDS2871.1 TKT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350356.1 - ENST00000462138.1 Silent SNP PCPG-TCGA-WB-A80Y-Normal-SM-5EMMJ SLC38A10 124565 hgsc.bcm.edu 37 17 79234049 79234049 + Missense_Mutation SNP G G A rs140006785 byFrequency TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr17:79234049G>A ENST00000374759.3 - 11.0 1660 c.1277C>T c.(1276-1278)gCg>gTg p.A426V SLC38A10_ENST00000288439.5_Missense_Mutation_p.A426V NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 426.0 amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23.0 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) TGAGAGCCGCGCTGCCTCCAC 0.637 G 3.0 0.0014 0.0028 2184.0 1.0 , , 0.0003 0.0026 0.0014 1.0 LOWCOV,EXOME 0.0008 SNP 0 G VAL/ALA,VAL/ALA 3,4395 0,3,2196 24.0 25.0 24.0 1277,1277 3.0 0.3 17 dbSNP_134 24.0 7,8571 0,7,4282 yes missense,missense SLC38A10 NM_001037984.1,NM_138570.2 64,64 0,10,6478 AA,AG,GG 0.0816,0.0682,0.0771 benign,benign 426/1120,426/781 79234049.0 10,12966 2199.0 4289.0 6488.0 SO:0001583 missense BC014642 CCDS11780.1, CCDS42397.1 17q25.3 2013-05-22 ENSG00000157637 ENSG00000157637 124565.0 124565.0 """Solute carriers""" 28237.0 protein-coding gene gene with protein product Standard NM_138570 XM_005257019 Approved MGC15523, PP1744 uc002jzz.1 Q9HBR0 OTTHUMG00000168049 ENST00000374759.3:c.1277C>T 17.__UNKNOWN__:g.79234049G>A ENSP00000363891:p.Ala426Val Q6ZRC5|Q8NA99|Q96C66 __UNKNOWN__ CCDS42397.1 3 0.0013736263736263737 0 0.0 1 0.0027624309392265192 0 0.0 2 0.002638522427440633 G 2.642 -0.283908 0.05642 6.82E-4 8.16E-4 ENSG00000157637 ENST00000374759;ENST00000288439 T;T 0.10763 3.01;2.84 3.95 2.98 0.34508 . 0.695089 0.11071 U 0.602883 T 0.06280 0.0162 N 0.16656 0.425 0.09310 N 1 B;B 0.20550 0.03;0.046 B;B 0.15052 0.01;0.012 T 0.37549 -0.9701 10 0.30854 T 0.27 -26.0595 5.3072 0.15811 0.1079:0.0:0.6777:0.2144 . 426;426 Q9HBR0-2;Q9HBR0 .;S38AA_HUMAN V 426 ENSP00000363891:A426V;ENSP00000288439:A426V ENSP00000288439:A426V A - 2 0 SLC38A10 76848644 0.000000 0.05858 0.314000 0.25224 0.002000 0.02628 0.233000 0.17911 1.006000 0.39211 -0.448000 0.05591 GCG SLC38A10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000397747.1 - ENST00000374759.3 Missense_Mutation SNP PCPG-TCGA-WB-A80Y-Normal-SM-5EMMJ TGFBR3 7049 broad.mit.edu 37 1 92174280 92174280 + Nonsense_Mutation SNP G G A TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr1:92174280G>A ENST00000525962.1 - 13.0 2288 c.2227C>T c.(2227-2229)Cag>Tag p.Q743* TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.Q742*|TGFBR3_ENST00000212355.4_Nonsense_Mutation_p.Q743* Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 743.0 Interaction with TGF-beta ligand. {ECO:0000250}. blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578) coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114) 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) 55.0 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TTCTTATTCTGCATCATGGCC 0.547 0 116.0 95.0 102.0 1 92174280.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained L07594 CCDS30770.1, CCDS55614.1 1p33-p32 2008-02-05 2007-02-15 ENSG00000069702 ENSG00000069702 7049.0 7049.0 """Proteoglycans / Cell surface : Other""" 11774.0 protein-coding gene gene with protein product """betaglycan proteoglycan""" 600742 """transforming growth factor, beta receptor III (betaglycan, 300kDa)""" 1333192, 1319842 Standard NM_003243 NM_001195684 Approved betaglycan, BGCAN uc001doh.3 Q03167 OTTHUMG00000010097 ENST00000525962.1:c.2227C>T 1.__UNKNOWN__:g.92174280G>A ENSP00000436127:p.Gln743* A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2 __UNKNOWN__ CCDS30770.1 . . . . . . . . . . G 40 8.483481 0.98832 . . ENSG00000069702 ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892 . . . 5.68 5.68 0.88126 . 0.167779 0.53938 D 0.000054 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.27785 T 0.31 -14.6293 19.3902 0.94578 0.0:0.0:1.0:0.0 . . . . X 743;742;743;742 . ENSP00000212355:Q743X Q - 1 0 TGFBR3 91946868 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 5.347000 0.65998 2.698000 0.92095 0.561000 0.74099 CAG TGFBR3-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000382308.1 - ENST00000525962.1 Nonsense_Mutation SNP PCPG-TCGA-WB-A814-Normal-SM-5EMLW RBM24 221662 broad.mit.edu 37 6 17283076 17283076 + Missense_Mutation SNP A A T TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr6:17283076A>T ENST00000379052.5 + 2.0 445 c.209A>T c.(208-210)aAg>aTg p.K70M RBM24_ENST00000318204.5_Missense_Mutation_p.K25M|RBM24_ENST00000425446.2_Missense_Mutation_p.K12M NM_001143942.1 NP_001137414.1 Q9BX46 RBM24_HUMAN RNA binding motif protein 24 70.0 RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}. cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830) cytoplasm (GO:0005737)|nucleus (GO:0005634) mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166) endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 13.0 Breast(50;0.0615)|Ovarian(93;0.0733) all_hematologic(90;0.062) all cancers(50;0.131)|Epithelial(50;0.15) AGGGCCTGCAAGGATCCCAAT 0.483 0 115.0 96.0 102.0 6 17283076.0 2203.0 4300.0 6503.0 SO:0001583 missense BC040928 CCDS4538.1, CCDS47378.1, CCDS47379.1 6p22.3 2013-02-12 2004-04-23 2004-04-23 ENSG00000112183 ENSG00000112183 221662.0 221662.0 """RNA binding motif (RRM) containing""" 21539.0 protein-coding gene gene with protein product """RNA-binding region (RNP1, RRM) containing 6""" RNPC6 Standard NM_153020 NM_153020 Approved FLJ30829, dJ259A10.1 uc003nbz.4 Q9BX46 OTTHUMG00000014306 ENST00000379052.5:c.209A>T 6.__UNKNOWN__:g.17283076A>T ENSP00000368341:p.Lys70Met E9PAY4|Q6QDA4|Q8N9D3|Q96NI3 __UNKNOWN__ CCDS47378.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 19.95|19.95 3.922098|3.922098 0.73213|0.73213 .|. .|. ENSG00000112183|ENSG00000112183 ENST00000379052;ENST00000509686;ENST00000425446;ENST00000318204|ENST00000503965 T;T;T;T|. 0.24908|. 2.24;2.93;1.83;3.24|. 4.83|4.83 4.83|4.83 0.62350|0.62350 Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|. 0.162995|. 0.52532|. D|. 0.000075|. T|T 0.60011|0.60011 0.2236|0.2236 L|L 0.58969|0.58969 1.84|1.84 0.80722|0.80722 D|D 1|1 D;B;B|. 0.64830|. 0.994;0.146;0.146|. D;B;B|. 0.64144|. 0.922;0.155;0.155|. T|T 0.61287|0.61287 -0.7093|-0.7093 10|5 0.44086|. T|. 0.13|. -5.9856|-5.9856 14.4065|14.4065 0.67086|0.67086 1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0 .|. 25;70;70|. Q9BX46-2;Q9BX46;A8KAI7|. .;RBM24_HUMAN;.|. M|W 70;29;12;25|35 ENSP00000368341:K70M;ENSP00000426222:K29M;ENSP00000396898:K12M;ENSP00000319551:K25M|. ENSP00000319551:K25M|. K|R +|+ 2|1 0|2 RBM24|RBM24 17391055|17391055 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.997000|0.997000 0.91878|0.91878 9.089000|9.089000 0.94137|0.94137 1.807000|1.807000 0.52817|0.52817 0.533000|0.533000 0.62120|0.62120 AAG|AGG RBM24-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039946.2 + ENST00000379052.5 Missense_Mutation SNP PCPG-TCGA-WB-A814-Normal-SM-5EMLW PKP4 8502 broad.mit.edu 37 2 159517885 159517885 + Missense_Mutation SNP C C T TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr2:159517885C>T ENST00000389759.3 + 13.0 2246 c.2134C>T c.(2134-2136)Cgg>Tgg p.R712W PKP4_ENST00000389757.3_Missense_Mutation_p.R712W|AC005042.4_ENST00000342892.4_RNA NM_003628.3 NP_003619.2 Q99569 PKP4_HUMAN plakophilin 4 712.0 cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61.0 GAAGCAAATGCGGTCCTGCGA 0.577 HNSCC(62;0.18) 0 94.0 90.0 91.0 2 159517885.0 2203.0 4300.0 6503.0 SO:0001583 missense X81889 CCDS33305.1, CCDS33306.1 2q24.1 2013-02-14 ENSG00000144283 ENSG00000144283 8502.0 8502.0 """Armadillo repeat containing""" 9026.0 protein-coding gene gene with protein product 604276 9342840, 8937994 Standard NM_003628 Approved p0071 uc002tzv.3 Q99569 OTTHUMG00000153969 ENST00000389759.3:c.2134C>T 2.__UNKNOWN__:g.159517885C>T ENSP00000374409:p.Arg712Trp Q86W91 __UNKNOWN__ CCDS33305.1 . . . . . . . . . . C 23.0 4.359418 0.82353 . . ENSG00000144283 ENST00000428353;ENST00000389757;ENST00000389759 T;T 0.81415 -1.49;-1.49 5.48 3.36 0.38483 Armadillo-like helical (1);Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 D 0.90338 0.6977 M 0.89785 3.06 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 0.999;1.0;0.999;1.0 D 0.91778 0.5433 10 0.87932 D 0 -11.2699 12.0373 0.53433 0.5731:0.4269:0.0:0.0 . 667;712;712;563 Q4W5T8;Q99569-2;Q99569;F8W7E2 .;.;PKP4_HUMAN;. W 563;712;712 ENSP00000374407:R712W;ENSP00000374409:R712W ENSP00000374407:R712W R + 1 2 PKP4 159226131 1.000000 0.71417 0.996000 0.52242 0.991000 0.79684 3.172000 0.50832 1.404000 0.46819 0.591000 0.81541 CGG PKP4-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000333250.1 + ENST00000389759.3 Missense_Mutation SNP PCPG-TCGA-WB-A814-Normal-SM-5EMLW AHNAK 79026 broad.mit.edu 37 11 62288421 62288421 + Missense_Mutation SNP C C T TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr11:62288421C>T ENST00000378024.4 - 5.0 13742 c.13468G>A c.(13468-13470)Ggg>Agg p.G4490R AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4490.0 protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385) actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982) poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493) 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) 268.0 Melanoma(852;0.155) ACCTCTGGCCCTTTCAGATCA 0.453 0 92.0 87.0 88.0 11 62288421.0 2202.0 4299.0 6501.0 SO:0001583 missense M80899 CCDS31584.1, CCDS44625.1 11q12-q13 2008-02-05 2007-03-30 ENSG00000124942 ENSG00000124942 79026.0 79026.0 347.0 protein-coding gene gene with protein product """desmoyokin""" 103390 """AHNAK nucleoprotein (desmoyokin)""" 7987395, 12153988 Standard NM_024060 NM_024060 Approved MGC5395 uc001ntl.3 Q09666 OTTHUMG00000167558 ENST00000378024.4:c.13468G>A 11.__UNKNOWN__:g.62288421C>T ENSP00000367263:p.Gly4490Arg A1A586 __UNKNOWN__ CCDS31584.1 . . . . . . . . . . C 14.63 2.591957 0.46214 . . ENSG00000124942 ENST00000378024 T 0.02890 4.12 5.12 4.21 0.49690 . 0.701493 0.11600 N 0.547894 T 0.20088 0.0483 H 0.94808 3.585 0.20975 N 0.999811 D 0.71674 0.998 D 0.72075 0.976 T 0.41142 -0.9525 10 0.12103 T 0.63 . 13.4863 0.61369 0.0:0.9235:0.0:0.0765 . 4490 Q09666 AHNK_HUMAN R 4490 ENSP00000367263:G4490R ENSP00000367263:G4490R G - 1 0 AHNAK 62044997 0.002000 0.14202 0.043000 0.18650 0.955000 0.61496 1.838000 0.39211 1.292000 0.44672 0.643000 0.83706 GGG AHNAK-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000395572.1 - ENST00000378024.4 Missense_Mutation SNP PCPG-TCGA-WB-A814-Normal-SM-5EMLW EPAS1 2034 broad.mit.edu 37 2 46607400 46607400 + Missense_Mutation SNP C C T TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr2:46607400C>T ENST00000263734.3 + 12.0 2099 c.1589C>T c.(1588-1590)gCa>gTa p.A530V NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 530.0 NTAD. angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601) cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134) 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) 39.0 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) GAGACACTGGCACCCTATATC 0.592 0 86.0 94.0 91.0 2 46607400.0 2203.0 4300.0 6503.0 SO:0001583 missense U81984 CCDS1825.1 2p21-p16 2013-05-21 ENSG00000116016 ENSG00000116016 2034.0 2034.0 """Basic helix-loop-helix proteins""" 3374.0 protein-coding gene gene with protein product """HIF-1 alpha-like factor""" 603349 9000051, 9079689, 18378852 Standard NM_001430 NM_001430 Approved MOP2, PASD2, HIF2A, HLF, bHLHe73 uc002ruv.3 Q99814 OTTHUMG00000128818 ENST00000263734.3:c.1589C>T 2.__UNKNOWN__:g.46607400C>T ENSP00000263734:p.Ala530Val Q86VA2|Q99630 __UNKNOWN__ CCDS1825.1 . . . . . . . . . . C 35 5.420544 0.96111 . . ENSG00000116016 ENST00000263734 D 0.98150 -4.75 5.06 5.06 0.68205 . 0.000000 0.85682 D 0.000000 D 0.98532 0.9510 M 0.70595 2.14 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.99873 1.1099 10 0.87932 D 0 . 18.4411 0.90666 0.0:1.0:0.0:0.0 . 530 Q99814 EPAS1_HUMAN V 530 ENSP00000263734:A530V ENSP00000263734:A530V A + 2 0 EPAS1 46460904 1.000000 0.71417 0.996000 0.52242 0.982000 0.71751 7.814000 0.86154 2.361000 0.80049 0.491000 0.48974 GCA EPAS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250752.2 + ENST00000263734.3 Missense_Mutation SNP PCPG-TCGA-WB-A814-Normal-SM-5EMLW TNS3 64759 broad.mit.edu 37 7 47344521 47344521 + Missense_Mutation SNP G G A TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr7:47344521G>A ENST00000398879.1 - 21.0 3097 c.2731C>T c.(2731-2733)Cgg>Tgg p.R911W TNS3_ENST00000355730.3_Missense_Mutation_p.R671W|TNS3_ENST00000311160.9_Missense_Mutation_p.R911W Q68CZ2 TENS3_HUMAN tensin 3 911.0 cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284) cytoplasm (GO:0005737)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64.0 GCATCAGCCCGGAGCATCGTG 0.587 0 64.0 73.0 70.0 7 47344521.0 2136.0 4260.0 6396.0 SO:0001583 missense AF378756 CCDS5506.2 7p12.3 2013-02-14 2005-05-13 2005-05-13 ENSG00000136205 ENSG00000136205 64759.0 64759.0 """SH2 domain containing""" 21616.0 protein-coding gene gene with protein product """tumor endothelial marker 6""" 606825 """tensin-like SH2 domain-containing 1""" TENS1 11559528 Standard NM_022748 NM_022748 Approved TEM6, H_NH0549I23.2, FLJ13732 uc003tnw.3 Q68CZ2 OTTHUMG00000074075 ENST00000398879.1:c.2731C>T 7.__UNKNOWN__:g.47344521G>A ENSP00000381854:p.Arg911Trp B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48 __UNKNOWN__ CCDS5506.2 . . . . . . . . . . G 18.34 3.603451 0.66445 . . ENSG00000136205 ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718 D;D;D;D 0.95103 -3.1;-3.1;-3.61;-3.24 5.55 2.22 0.28083 . 0.864875 0.10313 N 0.689678 D 0.91181 0.7222 L 0.32530 0.975 0.80722 D 1 D 0.65815 0.995 P 0.50378 0.639 D 0.86186 0.1609 10 0.72032 D 0.01 -7.0276 2.1968 0.03913 0.1277:0.2032:0.4931:0.1761 . 911 Q68CZ2 TENS3_HUMAN W 911;1021;911;671;367;1014 ENSP00000312143:R911W;ENSP00000381854:R911W;ENSP00000347968:R671W;ENSP00000414358:R1014W ENSP00000312143:R911W R - 1 2 TNS3 47311046 0.787000 0.28750 0.963000 0.40424 0.542000 0.35054 1.792000 0.38754 0.508000 0.28173 0.655000 0.94253 CGG TNS3-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000157253.1 - ENST00000398879.1 Missense_Mutation SNP PCPG-TCGA-WB-A814-Normal-SM-5EMLW ALMS1 7840 broad.mit.edu 37 2 73717628 73717628 + Missense_Mutation SNP G G A TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr2:73717628G>A ENST00000264448.6 + 10.0 8650 c.8539G>A c.(8539-8541)Ggc>Agc p.G2847S ALMS1_ENST00000409009.1_Missense_Mutation_p.G2805S NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2847.0 endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492) centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829) 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) 147.0 TATTAGCATGGGCAGACCAAG 0.403 0 72.0 68.0 69.0 2 73717628.0 1884.0 4095.0 5979.0 SO:0001583 missense AB002326 CCDS42697.1 2p13.1 2014-09-17 ENSG00000116127 ENSG00000116127 7840.0 7840.0 428.0 protein-coding gene gene with protein product 606844 9063741 Standard NM_015120 NM_015120 Approved KIAA0328 uc002sje.1 Q8TCU4 OTTHUMG00000152812 ENST00000264448.6:c.8539G>A 2.__UNKNOWN__:g.73717628G>A ENSP00000264448:p.Gly2847Ser Q53S05|Q580Q8|Q86VP9|Q9Y4G4 __UNKNOWN__ CCDS42697.1 . . . . . . . . . . G 7.203 0.593893 0.13875 . . ENSG00000116127 ENST00000409009;ENST00000264448 T;T 0.05855 3.38;3.38 4.54 -3.88 0.04205 . 0.753644 0.11847 N 0.523756 T 0.02888 0.0086 N 0.11560 0.145 0.19945 N 0.999943 B;B;B 0.17038 0.02;0.007;0.007 B;B;B 0.19946 0.027;0.027;0.027 T 0.43540 -0.9385 10 0.27082 T 0.32 . 6.6018 0.22705 0.6106:0.0:0.2478:0.1416 . 2847;2805;2847 Q8TCU4-3;B8ZZJ3;Q8TCU4 .;.;ALMS1_HUMAN S 2805;2847 ENSP00000386627:G2805S;ENSP00000264448:G2847S ENSP00000264448:G2847S G + 1 0 ALMS1 73571136 0.003000 0.15002 0.003000 0.11579 0.992000 0.81027 -0.100000 0.10990 -0.938000 0.03714 -0.145000 0.13849 GGC ALMS1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000327776.1 + ENST00000264448.6 Missense_Mutation SNP PCPG-TCGA-WB-A814-Normal-SM-5EMLW HNRNPM 4670 broad.mit.edu 37 19 8550640 8550640 + Missense_Mutation SNP G G A TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr19:8550640G>A ENST00000325495.4 + 14.0 1369 c.1328G>A c.(1327-1329)cGc>cAc p.R443H HNRNPM_ENST00000348943.3_Missense_Mutation_p.R404H NM_005968.4 NP_005959.2 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 443.0 27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV]. alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723) endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25.0 GTCATGGACCGCATGGGCTCC 0.711 0 64.0 69.0 67.0 19 8550640.0 2203.0 4298.0 6501.0 SO:0001583 missense L03532 CCDS12203.1, CCDS12204.1 19p13.2 2013-06-12 2008-04-18 ENSG00000099783 ENSG00000099783 4670.0 4670.0 """RNA binding motif (RRM) containing""" 5046.0 protein-coding gene gene with protein product """CEA receptor""" 160994 NAGR1, HNRPM 8441656, 7558047 Standard NM_005968 Approved HTGR1, HNRNPM4, HNRPM4, CEAR uc010dwe.3 P52272 OTTHUMG00000182383 ENST00000325495.4:c.1328G>A 19.__UNKNOWN__:g.8550640G>A ENSP00000325376:p.Arg443His Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492 __UNKNOWN__ CCDS12203.1 . . . . . . . . . . G 33 5.247682 0.95305 . . ENSG00000099783 ENST00000325495;ENST00000348943;ENST00000544159 T;T 0.18960 2.18;2.51 5.76 5.76 0.90799 . 0.102866 0.64402 D 0.000001 T 0.48259 0.1490 M 0.76727 2.345 0.80722 D 1 D;D;D;D 0.89917 1.0;0.999;0.992;0.994 D;D;P;P 0.66979 0.926;0.948;0.599;0.719 T 0.46119 -0.9214 10 0.87932 D 0 . 18.534 0.91002 0.0:0.0:1.0:0.0 . 283;443;404;328 Q7KYM9;P52272;P52272-2;Q59ES8 .;HNRPM_HUMAN;.;. H 443;404;328 ENSP00000325376:R443H;ENSP00000325732:R404H ENSP00000325376:R443H R + 2 0 HNRNPM 8456640 1.000000 0.71417 1.000000 0.80357 0.933000 0.57130 7.508000 0.81686 2.724000 0.93272 0.491000 0.48974 CGC HNRNPM-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000460894.1 + ENST00000325495.4 Missense_Mutation SNP PCPG-TCGA-WB-A814-Normal-SM-5EMLW MUC17 140453 broad.mit.edu 37 7 100682744 100682744 + Missense_Mutation SNP C C T rs71286275 TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr7:100682744C>T ENST00000306151.4 + 3.0 8111 c.8047C>T c.(8047-8049)Cca>Tca p.P2683S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2683.0 59 X approximate tandem repeats.|Ser-rich. cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) p.P2683S(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) 343.0 Lung NSC(181;0.136)|all_lung(186;0.182) TAGCAGCATGCCAACCTCAAC 0.493 1 Substitution - Missense(1) urinary_tract(1) 225.0 230.0 228.0 7 100682744.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453.0 140453.0 """Mucins""" 16800.0 protein-coding gene gene with protein product 608424 11855812 Standard NM_001040105 NM_001040105 Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.8047C>T 7.__UNKNOWN__:g.100682744C>T ENSP00000302716:p.Pro2683Ser O14761|Q685J2|Q8TDH7 __UNKNOWN__ CCDS34711.1 . . . . . . . . . . C 4.606 0.112671 0.08831 . . ENSG00000169876 ENST00000306151 T 0.01854 4.6 0.911 -1.82 0.07857 . . . . . T 0.01730 0.0055 N 0.04880 -0.145 0.09310 N 1 D 0.57571 0.98 P 0.59424 0.857 T 0.25745 -1.0123 9 0.08599 T 0.76 . 0.3885 0.00406 0.2439:0.3108:0.2431:0.2021 . 2683 Q685J3 MUC17_HUMAN S 2683 ENSP00000302716:P2683S ENSP00000302716:P2683S P + 1 0 MUC17 100469464 0.000000 0.05858 0.000000 0.03702 0.008000 0.06430 -2.262000 0.01175 -0.688000 0.05155 0.134000 0.15878 CCA MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347161.1 + ENST00000306151.4 Missense_Mutation SNP PCPG-TCGA-WB-A814-Normal-SM-5EMLW EMC1 23065 broad.mit.edu 37 1 19559123 19559123 + Missense_Mutation SNP C C T TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr1:19559123C>T ENST00000477853.1 - 15.0 1819 c.1777G>A c.(1777-1779)Gac>Aac p.D593N EMC1_ENST00000375208.3_Missense_Mutation_p.D571N|EMC1_ENST00000375199.3_Missense_Mutation_p.D592N|RP1-43E13.2_ENST00000437898.1_RNA NM_001271427.1|NM_001271428.1|NM_015047.2 NP_001258356.1|NP_001258357.1|NP_055862.1 Q8N766 EMC1_HUMAN ER membrane protein complex subunit 1 593.0 ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021) CTCACCTTGTCCTTCACCAGC 0.488 0 161.0 160.0 160.0 1 19559123.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS190.1, CCDS59190.1, CCDS59191.1 1p36.13 2012-05-23 2012-05-23 2012-05-23 ENSG00000127463 ENSG00000127463 23065.0 23065.0 28957.0 protein-coding gene gene with protein product """KIAA0090""" KIAA0090 22119785 Standard NM_015047 NM_015047 Approved uc001bbo.4 Q8N766 OTTHUMG00000002497 ENST00000477853.1:c.1777G>A 1.__UNKNOWN__:g.19559123C>T ENSP00000420608:p.Asp593Asn A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8 __UNKNOWN__ CCDS190.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 20.6|20.6 4.021290|4.021290 0.75275|0.75275 .|. .|. ENSG00000127463|ENSG00000127463 ENST00000477853;ENST00000375199;ENST00000375208|ENST00000375197 T;T;T|. 0.23348|. 1.91;1.91;1.91|. 6.03|6.03 6.03|6.03 0.97812|0.97812 .|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.67306|0.67306 0.2879|0.2879 L|L 0.41415|0.41415 1.275|1.275 0.80722|0.80722 D|D 1|1 P;B;D;D|. 0.63880|. 0.589;0.383;0.993;0.988|. B;B;D;P|. 0.63033|. 0.236;0.155;0.91;0.815|. T|T 0.60546|0.60546 -0.7242|-0.7242 10|5 0.37606|. T|. 0.19|. .|. 19.1391|19.1391 0.93441|0.93441 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 571;592;592;593|. Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|. .;.;.;K0090_HUMAN|. N|E 593;592;571|326 ENSP00000420608:D593N;ENSP00000364345:D592N;ENSP00000364354:D571N|. ENSP00000364345:D592N|. D|G -|- 1|2 0|0 KIAA0090|KIAA0090 19431710|19431710 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.950000|0.950000 0.60333|0.60333 7.280000|7.280000 0.78610|0.78610 2.868000|2.868000 0.98415|0.98415 0.557000|0.557000 0.71058|0.71058 GAC|GGA EMC1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000007076.2 - ENST00000477853.1 Missense_Mutation SNP PCPG-TCGA-WB-A814-Normal-SM-5EMLW RNF168 165918 broad.mit.edu 37 3 196199525 196199525 + Missense_Mutation SNP A A G TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr3:196199525A>G ENST00000318037.3 - 6.0 1475 c.881T>C c.(880-882)aTa>aCa p.I294T NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 294.0 cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511) mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151) chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20.0 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) AGGGGACTCTATTGAAGAATC 0.458 0 127.0 122.0 124.0 3 196199525.0 2203.0 4300.0 6503.0 SO:0001583 missense AK054732 CCDS3317.1 3q29 2014-09-17 2012-02-23 ENSG00000163961 ENSG00000163961 165918.0 165918.0 """RING-type (C3HC4) zinc fingers""" 26661.0 protein-coding gene gene with protein product 612688 """ring finger protein 168""" 12477932 Standard NM_152617 NM_152617 Approved FLJ35794 uc003fwq.3 Q8IYW5 OTTHUMG00000155582 ENST00000318037.3:c.881T>C 3.__UNKNOWN__:g.196199525A>G ENSP00000320898:p.Ile294Thr Q8NA67|Q96NS4 __UNKNOWN__ CCDS3317.1 . . . . . . . . . . A 1.574 -0.533307 0.04082 . . ENSG00000163961 ENST00000318037 T 0.07114 3.22 5.86 2.2 0.27929 . 2.505920 0.01098 N 0.005301 T 0.05823 0.0152 N 0.04959 -0.14 0.09310 N 1 B 0.06786 0.001 B 0.04013 0.001 T 0.41179 -0.9523 10 0.27785 T 0.31 1.2268 9.6306 0.39776 0.7745:0.0:0.2255:0.0 . 294 Q8IYW5 RN168_HUMAN T 294 ENSP00000320898:I294T ENSP00000320898:I294T I - 2 0 RNF168 197683922 0.072000 0.21174 0.000000 0.03702 0.001000 0.01503 0.950000 0.29122 -0.077000 0.12752 -1.431000 0.01090 ATA RNF168-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340778.1 - ENST00000318037.3 Missense_Mutation SNP PCPG-TCGA-WB-A814-Normal-SM-5EMLW MRVI1 10335 broad.mit.edu 37 11 10602002 10602002 + Splice_Site SNP C C T TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr11:10602002C>T ENST00000423302.2 - 20.0 2644 c.2495G>A c.(2494-2496)aGc>aAc p.S832N MRVI1_ENST00000541483.1_Splice_Site_p.S626N|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000547195.1_Splice_Site_p.S741N|MRVI1_ENST00000545852.1_Splice_Site_p.S517N|MRVI1_ENST00000558540.1_Splice_Site_p.S517N|MRVI1_ENST00000531107.1_Splice_Site_p.S824N|MRVI1_ENST00000552103.1_Splice_Site_p.S741N|MRVI1_ENST00000436272.1_Splice_Site_p.S805N|MRVI1_ENST00000534266.2_Splice_Site_p.S517N|MRVI1_ENST00000421747.1_Splice_Site_p.S823N|MRVI1_ENST00000527509.2_Splice_Site_p.S741N|MRVI1_ENST00000424001.1_Splice_Site_p.S517N|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA NM_001206880.1|NM_130385.3 NP_001193809.1|NP_569056.4 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 805.0 blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529) central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22.0 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) GGCTTCCCACCTGCTTCTTGG 0.488 0 288.0 289.0 289.0 11 10602002.0 1878.0 4088.0 5966.0 SO:0001630 splice_region_variant AF081249 CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1 11p15.4 2014-09-11 ENSG00000072952 ENSG00000072952 10335.0 10335.0 7237.0 protein-coding gene gene with protein product """inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate""" 604673 10321731 Standard NM_001098579 NM_001098579 Approved JAW1L, IRAG uc010rcb.1 Q9Y6F6 OTTHUMG00000165773 ENST00000423302.2:c.2495+1G>A 11.__UNKNOWN__:g.10602002C>T B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1 __UNKNOWN__ CCDS55746.1 . . . . . . . . . . C 16.57 3.160861 0.57368 . . ENSG00000072952 ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509 T;T;T;T;T;T;T;T;T;T 0.17691 2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26 5.34 4.41 0.53225 . 0.162599 0.53938 D 0.000045 T 0.13927 0.0337 L 0.33485 1.01 0.49582 D 0.999807 B;B;B;B 0.31931 0.347;0.121;0.121;0.099 B;B;B;B 0.30105 0.085;0.066;0.111;0.067 T 0.06356 -1.0831 9 . . . -12.544 15.1033 0.72299 0.143:0.8569:0.0:0.0 . 626;805;824;823 F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4 .;MRVI1_HUMAN;.;. N 823;806;805;741;741;517;517;832;626;824;741 ENSP00000414598:S823N;ENSP00000412229:S805N;ENSP00000448278:S741N;ENSP00000446764:S741N;ENSP00000441971:S517N;ENSP00000401205:S517N;ENSP00000412130:S832N;ENSP00000437784:S626N;ENSP00000432436:S824N;ENSP00000432067:S741N . S - 2 0 MRVI1 10558578 1.000000 0.71417 1.000000 0.80357 0.985000 0.73830 4.969000 0.63735 1.324000 0.45282 0.655000 0.94253 AGC MRVI1-001 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000386137.2 Missense_Mutation - ENST00000423302.2 Splice_Site SNP PCPG-TCGA-WB-A814-Normal-SM-5EMLW ZMYND15 84225 bcgsc.ca 37 17 4643865 4643865 + Missense_Mutation SNP C C T TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr17:4643865C>T ENST00000433935.1 + 2.0 79 c.22C>T c.(22-24)Cgg>Tgg p.R8W ZMYND15_ENST00000269289.6_Missense_Mutation_p.R8W|ZMYND15_ENST00000592813.1_Missense_Mutation_p.R8W|ZMYND15_ENST00000573751.2_Missense_Mutation_p.R8W NM_001136046.2|NM_001267822.1 NP_001129518.1|NP_001254751.1 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 8.0 negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872) endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18.0 GTCTGGATACCGGGATGAGTT 0.562 0 121.0 115.0 117.0 17 4643865.0 2203.0 4300.0 6503.0 SO:0001583 missense AL136893 CCDS11053.1, CCDS45584.1, CCDS58506.1 17p13.3 2008-05-02 ENSG00000141497 ENSG00000141497 84225.0 84225.0 """Zinc fingers, MYND-type""" 20997.0 protein-coding gene gene with protein product 614312 11230166 Standard NM_032265 NM_001136046 Approved DKFZp434N127 uc002fyu.3 Q9H091 OTTHUMG00000090760 ENST00000433935.1:c.22C>T 17.__UNKNOWN__:g.4643865C>T ENSP00000391742:p.Arg8Trp B4DXY5|I3L296 __UNKNOWN__ CCDS45584.1 . . . . . . . . . . C 16.86 3.239106 0.58995 . . ENSG00000141497 ENST00000433935;ENST00000269289 T;T 0.56776 0.45;0.44 5.27 4.29 0.51040 . 0.140036 0.33023 N 0.005371 T 0.53206 0.1782 L 0.27053 0.805 0.27714 N 0.945376 D;D 0.89917 1.0;0.999 P;P 0.58520 0.84;0.732 T 0.50311 -0.8843 10 0.87932 D 0 -11.2778 11.0583 0.47931 0.1852:0.8148:0.0:0.0 . 8;8 B4DXY5;Q9H091 .;ZMY15_HUMAN W 8 ENSP00000391742:R8W;ENSP00000269289:R8W ENSP00000269289:R8W R + 1 2 ZMYND15 4590614 1.000000 0.71417 1.000000 0.80357 0.495000 0.33615 2.720000 0.47252 1.430000 0.47334 0.650000 0.86243 CGG ZMYND15-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000439580.1 + ENST00000433935.1 Missense_Mutation SNP PCPG-TCGA-WB-A814-Normal-SM-5EMLW NFIX 4784 ucsc.edu 37 19 13184739 13184739 + Silent SNP A A C TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr19:13184739A>C ENST00000360105.4 + 5.0 791 c.726A>C c.(724-726)tcA>tcC p.S242S NFIX_ENST00000587760.1_Silent_p.S231S|NFIX_ENST00000587260.1_Silent_p.S238S|NFIX_ENST00000588228.1_Silent_p.S192S|NFIX_ENST00000397661.2_Silent_p.S239S|NFIX_ENST00000592199.1_Silent_p.S239S|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000358552.3_Silent_p.S238S|NFIX_ENST00000585575.1_Silent_p.S231S Q14938 NFIX_HUMAN nuclear factor I/X (CCAAT-binding transcription factor) 239.0 astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11.0 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) CAACAGCATCAGGGCCCAACT 0.592 0 78.0 86.0 83.0 19 13184739.0 1968.0 4135.0 6103.0 SO:0001819 synonymous_variant U18761 CCDS45996.1, CCDS59359.1 19p13.3 2008-02-05 ENSG00000008441 4784.0 4784.0 7788.0 protein-coding gene gene with protein product 164005 8340106, 7590749 Standard NM_002501 NM_001271043 Approved NF1A uc010xmx.2 Q14938 ENST00000360105.4:c.726A>C 19.__UNKNOWN__:g.13184739A>C B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8 __UNKNOWN__ . . . . . . . . . . A 10.59 1.391753 0.25118 . . ENSG00000008441 ENST00000438869 . . . 4.71 3.68 0.42216 . . . . . T 0.59865 0.2225 . . . 0.80722 D 1 . . . . . . T 0.59440 -0.7454 5 0.59425 D 0.04 . 5.0699 0.14602 0.5483:0.1615:0.0:0.2902 . . . . P 191 . ENSP00000408621:Q191P Q + 2 0 NFIX 13045739 0.937000 0.31787 1.000000 0.80357 0.997000 0.91878 0.112000 0.15479 0.815000 0.34398 0.533000 0.62120 CAG NFIX-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000452768.1 + ENST00000360105.4 Silent SNP PCPG-TCGA-WB-A814-Normal-SM-5EMLW SLC38A5 92745 ucsc.edu 37 X 48320140 48320140 + Missense_Mutation SNP T T A TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chrX:48320140T>A ENST00000376876.3 - 11.0 1658 c.815A>T c.(814-816)cAc>cTc p.H272L SLC38A5_ENST00000317669.5_Missense_Mutation_p.H272L|SLC38A5_ENST00000376875.1_Missense_Mutation_p.H221L Q8WUX1 S38A5_HUMAN solute carrier family 38, member 5 272.0 amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) glycine transmembrane transporter activity (GO:0015187) breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 19.0 CACCTCAGGGTGGCAGACAAA 0.557 0 84.0 62.0 69.0 X 48320140.0 2203.0 4300.0 6503.0 SO:0001583 missense AF276889 CCDS14293.1 Xp11.23 2013-05-22 ENSG00000017483 ENSG00000017483 92745.0 92745.0 """Solute carriers""" 18070.0 protein-coding gene gene with protein product 300649 11243884 Standard NM_033518 NM_033518 Approved SN2, JM24 uc010nid.3 Q8WUX1 OTTHUMG00000024117 ENST00000376876.3:c.815A>T X.__UNKNOWN__:g.48320140T>A ENSP00000366073:p.His272Leu B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4 __UNKNOWN__ CCDS14293.1 . . . . . . . . . . t 25.6 4.651976 0.88056 . . ENSG00000017483 ENST00000376876;ENST00000376875;ENST00000317669;ENST00000440085;ENST00000441948 T;T;T;T;T 0.02890 4.12;4.12;4.12;4.12;4.12 4.97 4.97 0.65823 . 0.000000 0.85682 D 0.000000 T 0.20659 0.0497 M 0.93898 3.47 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.02805 -1.1108 10 0.87932 D 0 . 11.6403 0.51228 0.0:0.0:0.0:1.0 . 272 Q8WUX1 S38A5_HUMAN L 272;221;272;272;272 ENSP00000366073:H272L;ENSP00000366071:H221L;ENSP00000313740:H272L;ENSP00000402988:H272L;ENSP00000407258:H272L ENSP00000313740:H272L H - 2 0 SLC38A5 48205084 1.000000 0.71417 1.000000 0.80357 0.824000 0.46624 6.028000 0.70889 1.650000 0.50662 0.242000 0.17961 CAC SLC38A5-011 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060724.1 - ENST00000376876.3 Missense_Mutation SNP PCPG-TCGA-WB-A814-Normal-SM-5EMLW C19orf45 374877 hgsc.bcm.edu 37 19 7565735 7565735 + Missense_Mutation SNP C C G rs115016050 by1000genomes TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 C C . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr19:7565735C>G ENST00000361664.2 + 2.0 168 c.27C>G c.(25-27)tgC>tgG p.C9W NM_198534.2 NP_940936.2 Q8NA69 CS045_HUMAN chromosome 19 open reading frame 45 9.0 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8.0 TCCTGCCGTGCTCGCGCCCGT 0.682 C 31.0 0.01 0.06 2184.0 0.9981 , , 0.0005 0.0151 0.9563 LOWCOV,EXOME 0.0008 SNP 0 C TRP/CYS 135,4193 0,135,2029 8.0 9.0 9.0 27 0.4 0.0 19 dbSNP_132 9.0 0,8436 0,0,4218 yes missense C19orf45 NM_198534.2 215 0,135,6247 GG,GC,CC 0.0,3.1192,1.0577 probably-damaging 9/506 7565735.0 135,12629 2164.0 4218.0 6382.0 SO:0001583 missense BC029824 CCDS12179.2 19p13.2 2008-02-05 ENSG00000198723 ENSG00000198723 374877.0 374877.0 24745.0 protein-coding gene gene with protein product 12477932 Standard NM_198534 NM_198534 Approved FLJ35784 uc002mgm.2 Q8NA69 OTTHUMG00000157183 ENST00000361664.2:c.27C>G 19.__UNKNOWN__:g.7565735C>G ENSP00000355241:p.Cys9Trp Q8N115 __UNKNOWN__ CCDS12179.2 31 0.014194139194139194 31 0.06300813008130081 0 0.0 0 0.0 0 0.0 C 15.55 2.865936 0.51588 0.031192 0.0 ENSG00000198723 ENST00000419849;ENST00000361664;ENST00000421818 T 0.15487 2.42 1.98 0.445 0.16597 . . . . . T 0.00906 0.0030 N 0.22421 0.69 0.09310 N 1 P 0.50528 0.936 B 0.38985 0.287 T 0.24728 -1.0152 9 0.62326 D 0.03 . 4.7074 0.12856 0.0:0.7582:0.0:0.2418 . 9 Q8NA69 CS045_HUMAN W 9 ENSP00000355241:C9W ENSP00000355241:C9W C + 3 2 C19orf45 7471735 0.030000 0.19436 0.006000 0.13384 0.430000 0.31655 0.196000 0.17176 0.193000 0.20303 0.297000 0.19635 TGC C19orf45-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347808.1 + ENST00000361664.2 Missense_Mutation SNP PCPG-TCGA-WB-A814-Normal-SM-5EMLW XYLT2 64132 broad.mit.edu 37 17 48431902 48431902 + Silent SNP C C A rs150977138 TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr17:48431902C>A ENST00000017003.2 + 3.0 811 c.762C>A c.(760-762)gcC>gcA p.A254A XYLT2_ENST00000507602.1_Silent_p.A254A NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 254.0 chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158) endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12.0 Breast(11;7.18e-19) TCCTCAAGGCCGTTTATCACG 0.597 0 53.0 52.0 52.0 17 48431902.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AJ277442 CCDS11563.1 17q21.33 2013-02-25 ENSG00000015532 ENSG00000015532 64132.0 64132.0 2.4.2.26 15517.0 protein-coding gene gene with protein product """protein xylosyltransferase 2""" 608125 11099377 Standard NM_022167 NM_022167 Approved XT-II, PXYLT2 uc002iqo.3 Q9H1B5 OTTHUMG00000162057 ENST00000017003.2:c.762C>A 17.__UNKNOWN__:g.48431902C>A Q6UY41|Q86V00 __UNKNOWN__ CCDS11563.1 XYLT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367046.1 + ENST00000017003.2 Silent SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 PIGP 51227 broad.mit.edu 37 21 38444872 38444872 + Missense_Mutation SNP T T G TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr21:38444872T>G ENST00000360525.4 - 2.0 159 PIGP_ENST00000464265.1_Missense_Mutation_p.T6P|PIGP_ENST00000399102.1_Intron|PIGP_ENST00000399098.1_Intron|PIGP_ENST00000399103.1_Intron NM_153682.2 NP_710149.1 P57054 PIGP_HUMAN phosphatidylinositol glycan anchor biosynthesis, class P C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021) phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176) kidney(1)|urinary_tract(1) 2.0 Myeloproliferative disorder(46;0.0412) GCCAGCGATGTGCTCCGTGGC 0.607 0 143.0 143.0 143.0 21 38444872.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AB037162 CCDS13649.1, CCDS13650.1 21q22.2 2013-02-26 2006-06-28 2005-11-10 ENSG00000185808 ENSG00000185808 51227.0 51227.0 2.4.1.198 """Phosphatidylinositol glycan anchor biosynthesis""" 3046.0 protein-coding gene gene with protein product """phosphatidylinositol-n-acetylglucosaminyltranferase subunit""" 605938 """Down syndrome critical region gene 5"", ""phosphatidylinositol glycan, class P""" DSCR5 10814524, 15221505 Standard NM_153681 NR_028352 Approved DCRC, DSRC uc002yvw.1 P57054 OTTHUMG00000086653 ENST00000360525.4:c.22-35A>C 21.__UNKNOWN__:g.38444872T>G B2RB18|B2RE99|B5BU92|D3DSG7|J3KR75|Q53Y28|Q96KI1|Q9NZA6 __UNKNOWN__ CCDS13650.1 . . . . . . . . . . T 12.07 1.826959 0.32329 . . ENSG00000185808 ENST00000464265 T 0.23754 1.89 4.31 -6.01 0.02199 . 3.218240 0.00901 N 0.002353 T 0.14227 0.0344 N 0.14661 0.345 0.09310 N 0.999994 B 0.16603 0.018 B 0.13407 0.009 T 0.33624 -0.9861 10 0.66056 D 0.02 12.9914 5.9864 0.19436 0.2752:0.5565:0.0:0.1682 . 6 P57054 PIGP_HUMAN P 6 ENSP00000420037:T6P ENSP00000420037:T6P T - 1 0 PIGP 37366742 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 -2.062000 0.01390 -0.756000 0.04703 -0.468000 0.05107 ACA PIGP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000194766.2 - ENST00000360525.4 Intron SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 SEMA3G 56920 broad.mit.edu 37 3 52471566 52471566 + Missense_Mutation SNP G G T TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr3:52471566G>T ENST00000231721.2 - 15.0 1854 c.1855C>A c.(1855-1857)Cca>Aca p.P619T NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 619.0 Ig-like C2-type. multicellular organismal development (GO:0007275) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) receptor activity (GO:0004872) kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18.0 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) TCATCCCCTGGCCTCTGCAAG 0.632 0 35.0 37.0 36.0 3 52471566.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS2856.1 3p21.1 2013-01-11 ENSG00000010319 ENSG00000010319 56920.0 56920.0 """Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 30400.0 protein-coding gene gene with protein product 11214971 Standard NM_020163 XM_005265327 Approved FLJ00014, sem2 uc003dea.1 Q9NS98 OTTHUMG00000158570 ENST00000231721.2:c.1855C>A 3.__UNKNOWN__:g.52471566G>T ENSP00000231721:p.Pro619Thr Q7L9D9|Q9H7Q3 __UNKNOWN__ CCDS2856.1 . . . . . . . . . . G 9.351 1.065633 0.20067 . . ENSG00000010319 ENST00000231721 T 0.01505 4.82 5.13 3.34 0.38264 Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.869928 0.10139 N 0.711148 T 0.01976 0.0062 L 0.39397 1.21 0.30449 N 0.775462 B 0.12013 0.005 B 0.09377 0.004 T 0.34800 -0.9814 10 0.14252 T 0.57 . 8.6792 0.34198 0.2266:0.0:0.7734:0.0 . 619 Q9NS98 SEM3G_HUMAN T 619 ENSP00000231721:P619T ENSP00000231721:P619T P - 1 0 SEMA3G 52446606 0.814000 0.29104 0.927000 0.36925 0.933000 0.57130 1.360000 0.34125 0.872000 0.35775 0.655000 0.94253 CCA SEMA3G-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351354.1 - ENST00000231721.2 Missense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 UTRN 7402 broad.mit.edu 37 6 144761510 144761510 + Missense_Mutation SNP C C T TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr6:144761510C>T ENST00000367545.3 + 12.0 1415 c.1415C>T c.(1414-1416)gCt>gTt p.A472V NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 472.0 Interaction with SYNM. aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383) actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270) 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) 148.0 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GATCTTGAGGCTGAACAGGTG 0.358 0 120.0 118.0 118.0 6 144761510.0 2203.0 4300.0 6503.0 SO:0001583 missense AK023675 CCDS34547.1 6q24 2008-02-05 2006-12-13 ENSG00000152818 ENSG00000152818 7402.0 7402.0 12635.0 protein-coding gene gene with protein product 128240 """utrophin (homologous to dystrophin)""" DMDL 1426262 Standard NM_007124 Approved DRP, DRP1 uc003qkt.3 P46939 OTTHUMG00000015746 ENST00000367545.3:c.1415C>T 6.__UNKNOWN__:g.144761510C>T ENSP00000356515:p.Ala472Val Q5SYY1|Q5SZ57|Q9UJ40 __UNKNOWN__ CCDS34547.1 . . . . . . . . . . C 20.1 3.933034 0.73442 . . ENSG00000152818 ENST00000367529;ENST00000367545 T 0.55234 0.53 5.51 5.51 0.81932 . 0.253056 0.28146 N 0.016440 T 0.57021 0.2025 L 0.59436 1.845 0.80722 D 1 P 0.43024 0.798 P 0.51516 0.672 T 0.57081 -0.7872 10 0.54805 T 0.06 . 19.773 0.96379 0.0:1.0:0.0:0.0 . 472 P46939 UTRO_HUMAN V 472 ENSP00000356515:A472V ENSP00000356499:A472V A + 2 0 UTRN 144803203 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 3.751000 0.55165 2.756000 0.94617 0.650000 0.86243 GCT UTRN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042551.1 + ENST00000367545.3 Missense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 ACOT12 134526 broad.mit.edu 37 5 80640854 80640854 + Missense_Mutation SNP T T G TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr5:80640854T>G ENST00000307624.3 - 8.0 808 c.780A>C c.(778-780)gaA>gaC p.E260D NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 260.0 Acyl coenzyme A hydrolase 2. acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090) cytosol (GO:0005829) acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23.0 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) GAACTCCAACTTCAACACTGT 0.577 0 61.0 57.0 58.0 5 80640854.0 2203.0 4300.0 6503.0 SO:0001583 missense AB078619 CCDS4055.1 5q14.1 2011-09-13 ENSG00000172497 ENSG00000172497 134526.0 134526.0 """Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing""" 24436.0 protein-coding gene gene with protein product """StAR-related lipid transfer (START) domain containing 15""" 614315 16103133, 16940157 Standard NM_130767 NM_130767 Approved Cach, THEAL, STARD15 uc003khl.4 Q8WYK0 OTTHUMG00000131305 ENST00000307624.3:c.780A>C 5.__UNKNOWN__:g.80640854T>G ENSP00000303246:p.Glu260Asp B3KVK9|Q5FWE9 __UNKNOWN__ CCDS4055.1 . . . . . . . . . . T 23.7 4.447249 0.84101 . . ENSG00000172497 ENST00000307624 T 0.23552 1.9 5.53 1.91 0.25777 Thioesterase superfamily (1); 0.055265 0.64402 D 0.000001 T 0.47911 0.1471 M 0.82823 2.61 0.80722 D 1 D 0.76494 0.999 D 0.75484 0.986 T 0.41680 -0.9495 10 0.54805 T 0.06 -10.3803 7.9308 0.29901 0.0:0.3085:0.0:0.6915 . 260 Q8WYK0 ACO12_HUMAN D 260 ENSP00000303246:E260D ENSP00000303246:E260D E - 3 2 ACOT12 80676610 1.000000 0.71417 0.954000 0.39281 0.914000 0.54420 1.100000 0.31025 0.410000 0.25675 0.459000 0.35465 GAA ACOT12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254074.1 - ENST00000307624.3 Missense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 H6PD 9563 broad.mit.edu 37 1 9322245 9322245 + Silent SNP G G A TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr1:9322245G>A ENST00000377403.2 + 4.0 1175 c.873G>A c.(871-873)cgG>cgA p.R291R H6PD_ENST00000602477.1_Silent_p.R302R NM_001282587.1|NM_004285.3 NP_001269516.1|NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 291.0 Glucose 1-dehydrogenase. pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305) endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739) 6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23.0 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) CTGTGCTGCGGCACAAGCTTC 0.642 0 50.0 49.0 49.0 1 9322245.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AJ012590 CCDS101.1, CCDS72697.1 1p36 2008-02-05 2003-10-10 ENSG00000049239 ENSG00000049239 9563.0 9563.0 1.1.1.47 4795.0 protein-coding gene gene with protein product 138090 """glucose dehyrogenase""" GDH 10349511 Standard NM_004285 NM_001282587 Approved uc001apt.3 O95479 OTTHUMG00000001768 ENST00000377403.2:c.873G>A 1.__UNKNOWN__:g.9322245G>A Q4TT33|Q66I35|Q68DT3 __UNKNOWN__ CCDS101.1 H6PD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000004928.2 + ENST00000377403.2 Silent SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 CD101 9398 broad.mit.edu 37 1 117564514 117564514 + Silent SNP T T C TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr1:117564514T>C ENST00000256652.4 + 7.0 2395 c.2337T>C c.(2335-2337)gcT>gcC p.A779A CD101_ENST00000369470.1_Silent_p.A779A 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 779.0 Ig-like C2-type 6. cell surface receptor signaling pathway (GO:0007166) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812) 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) 49.0 ATCACTGTGCTGTGGAGGAAT 0.433 0 100.0 100.0 100.0 1 117564514.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant Z33642 CCDS891.1 1p13 2013-01-29 2009-10-27 2009-10-27 ENSG00000134256 ENSG00000134256 9398.0 9398.0 """CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 5949.0 protein-coding gene gene with protein product 604516 """immunoglobulin superfamily, member 2""" IGSF2 7722300 Standard NM_004258 NM_004258 Approved V7 uc010oxb.2 Q93033 OTTHUMG00000012029 ENST00000256652.4:c.2337T>C 1.__UNKNOWN__:g.117564514T>C Q15856 __UNKNOWN__ CCDS891.1 CD101-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033274.1 + ENST00000256652.4 Silent SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 ORC1 4998 broad.mit.edu 37 1 52859253 52859253 + Missense_Mutation SNP C C T TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr1:52859253C>T ENST00000371568.3 - 6.0 1162 c.944G>A c.(943-945)cGc>cAc p.R315H ORC1_ENST00000371566.1_Missense_Mutation_p.R315H NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 315.0 DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677) p.R315H(1) breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37.0 CAGGATTATGCGATGTTCAGG 0.468 1 Substitution - Missense(1) lung(1) 210.0 190.0 197.0 1 52859253.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS566.1 1p32 2010-10-12 2010-10-12 2010-10-12 ENSG00000085840 ENSG00000085840 4998.0 4998.0 """ATPases / AAA-type""" 8487.0 protein-coding gene gene with protein product """origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1""" 601902 """origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)""" ORC1L 8884289 Standard NM_004153 NM_004153 Approved HSORC1, PARC1 uc001ctu.3 Q13415 OTTHUMG00000008104 ENST00000371568.3:c.944G>A 1.__UNKNOWN__:g.52859253C>T ENSP00000360623:p.Arg315His D3DQ34|Q13471|Q5T0F5 __UNKNOWN__ CCDS566.1 . . . . . . . . . . C 9.988 1.230125 0.22542 . . ENSG00000085840 ENST00000371568;ENST00000371566 T;T 0.42131 0.98;0.98 4.12 -4.68 0.03309 . 2.624730 0.00644 N 0.000533 T 0.19525 0.0469 N 0.03115 -0.41 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.17440 -1.0369 10 0.42905 T 0.14 6.0687 5.953 0.19257 0.0:0.4234:0.3045:0.2721 . 315;315 B7Z8H0;Q13415 .;ORC1_HUMAN H 315 ENSP00000360623:R315H;ENSP00000360621:R315H ENSP00000360621:R315H R - 2 0 ORC1 52631841 0.000000 0.05858 0.000000 0.03702 0.007000 0.05969 -0.800000 0.04555 -0.945000 0.03681 -0.302000 0.09304 CGC ORC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000022202.1 - ENST00000371568.3 Missense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 GLI3 2737 broad.mit.edu 37 7 42085066 42085066 + Missense_Mutation SNP C C T TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr7:42085066C>T ENST00000395925.3 - 6.0 827 c.743G>A c.(742-744)cGc>cAc p.R248H GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 248.0 anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060) cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053) beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700) 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) 112.0 ATAGGGGCTGCGCTGGCCAGT 0.552 Pallister-Hall syndrome;Greig Cephalopolysyndactyly C 3.0 0.0014 0.01 2184.0 1.0 , , 0.0003 0.0014 1.0 LOWCOV,EXOME 0.0004 SNP 0 71.0 77.0 75.0 7 42085066.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database ; CCDS5465.1 7p13 2013-01-25 2009-03-05 ENSG00000106571 ENSG00000106571 2737.0 2737.0 """Zinc fingers, C2H2-type""" 4319.0 protein-coding gene gene with protein product """zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein""" 165240 """Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3""" GCPS, PHS 2118997 Standard NM_000168 NM_000168 Approved PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV uc011kbh.2 P10071 OTTHUMG00000023630 ENST00000395925.3:c.743G>A 7.__UNKNOWN__:g.42085066C>T ENSP00000379258:p.Arg248His A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39 __UNKNOWN__ CCDS5465.1 3 0.0013736263736263737 3 0.006097560975609756 0 0.0 0 0.0 0 0.0 C 32 5.160255 0.94727 . . ENSG00000106571 ENST00000395925 T 0.69926 -0.44 5.58 5.58 0.84498 . 0.100233 0.64402 D 0.000002 T 0.47655 0.1457 L 0.40543 1.245 0.80722 D 1 P 0.46220 0.874 B 0.32864 0.154 T 0.56238 -0.8012 10 0.33141 T 0.24 . 19.5837 0.95482 0.0:1.0:0.0:0.0 . 248 P10071 GLI3_HUMAN H 248 ENSP00000379258:R248H ENSP00000379258:R248H R - 2 0 GLI3 42051591 1.000000 0.71417 1.000000 0.80357 0.982000 0.71751 7.447000 0.80620 2.630000 0.89119 0.655000 0.94253 CGC GLI3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250806.3 - ENST00000395925.3 Missense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 RAD51AP1 10635 broad.mit.edu 37 12 4665596 4665596 + Missense_Mutation SNP G G C TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr12:4665596G>C ENST00000544927.1 + 8.0 673 RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.D267H|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.D284H|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.D149H RAD51 associated protein 1 breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 13.0 Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389) TCTGTCTTCAGATACCACTAG 0.423 0 90.0 88.0 88.0 12 4665596.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AF006259 CCDS8529.1, CCDS44805.1 12p13.2-p13.1 2004-09-16 ENSG00000111247 ENSG00000111247 10635.0 10635.0 16956.0 protein-coding gene gene with protein product 603070 9396801 Standard NM_006479 NM_001130862 Approved PIR51 uc001qmw.3 Q96B01 OTTHUMG00000168125 ENST00000544927.1:c.664-2427G>C 12.__UNKNOWN__:g.4665596G>C __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 12.04|12.04 1.819569|1.819569 0.32145|0.32145 .|. .|. ENSG00000111247|ENSG00000111247 ENST00000536117|ENST00000543041;ENST00000228843;ENST00000352618 .|T;T;T .|0.50548 .|1.49;0.74;0.74 4.51|4.51 3.59|3.59 0.41128|0.41128 .|. .|0.863828 .|0.10057 .|N .|0.721434 .|T .|0.45155 .|0.1328 L|L 0.29908|0.29908 0.895|0.895 0.09310|0.09310 N|N 1|1 .|D;P;P;P .|0.53151 .|0.958;0.699;0.699;0.846 .|P;B;B;P .|0.51135 .|0.66;0.195;0.195;0.465 .|T .|0.28170 .|-1.0052 .|10 .|0.66056 .|D .|0.02 .|-3.3303 8.5551|8.5551 0.33476|0.33476 0.1077:0.0:0.8923:0.0|0.1077:0.0:0.8923:0.0 .|. .|149;284;284;267 .|B4DUS5;Q96B01;A8K313;Q96B01-2 .|.;R51A1_HUMAN;.;. .|H -1|149;284;267 .|ENSP00000439960:D149H;ENSP00000228843:D284H;ENSP00000309479:D267H .|ENSP00000228843:D284H .|D +|+ .|1 .|0 RAD51AP1|RAD51AP1 4535857|4535857 0.890000|0.890000 0.30428|0.30428 0.509000|0.509000 0.27700|0.27700 0.694000|0.694000 0.40290|0.40290 1.353000|1.353000 0.34045|0.34045 2.340000|2.340000 0.79590|0.79590 0.591000|0.591000 0.81541|0.81541 .|GAT RAD51AP1-012 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000399208.1 + ENST00000544927.1 Intron SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 TINAG 27283 broad.mit.edu 37 6 54191706 54191706 + Nonsense_Mutation SNP G G T TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr6:54191706G>T ENST00000259782.4 + 4.0 712 c.616G>T c.(616-618)Gaa>Taa p.E206* TINAG_ENST00000370869.3_Nonsense_Mutation_p.E202*|TINAG_ENST00000370864.3_Nonsense_Mutation_p.E188* NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 206.0 cell adhesion (GO:0007155)|immune response (GO:0006955) basement membrane (GO:0005604) cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34.0 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) GAGCATGAATGAAATGACAGT 0.368 0 133.0 116.0 122.0 6 54191706.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained AB022277 CCDS4955.1 6p12.1 2008-05-15 ENSG00000137251 ENSG00000137251 27283.0 27283.0 14599.0 protein-coding gene gene with protein product 606749 10652240 Standard NM_014464 NM_014464 Approved uc003pcj.2 Q9UJW2 OTTHUMG00000014893 ENST00000259782.4:c.616G>T 6.__UNKNOWN__:g.54191706G>T ENSP00000259782:p.Glu206* Q5T467|Q9UJW1|Q9ULZ4 __UNKNOWN__ CCDS4955.1 . . . . . . . . . . G 25.9 4.682241 0.88542 . . ENSG00000137251 ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864 . . . 5.7 4.84 0.62591 . 0.718598 0.13446 N 0.387242 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.32370 T 0.25 . 10.6339 0.45554 0.088:0.0:0.912:0.0 . . . . X 202;156;206;188 . ENSP00000259782:E206X E + 1 0 TINAG 54299665 0.999000 0.42202 0.982000 0.44146 0.992000 0.81027 2.073000 0.41519 1.417000 0.47077 0.643000 0.83706 GAA TINAG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040984.1 + ENST00000259782.4 Nonsense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 CNST 163882 broad.mit.edu 37 1 246754968 246754968 + Missense_Mutation SNP C C T TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr1:246754968C>T ENST00000366513.4 + 2.0 373 c.104C>T c.(103-105)gCa>gTa p.A35V CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.A35V NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 35.0 negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133) connexin binding (GO:0071253)|phosphatase binding (GO:0019902) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28.0 CTGCCTTCTGCATCAGATGAA 0.498 0 148.0 129.0 136.0 1 246754968.0 2203.0 4300.0 6503.0 SO:0001583 missense AK056563 CCDS1628.1, CCDS44343.1 1q44 2012-04-17 2009-11-03 2009-11-03 ENSG00000162852 ENSG00000162852 163882.0 163882.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 26486.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 64""" 613439 """chromosome 1 open reading frame 71""" C1orf71 19864490 Standard NM_152609 NM_152609 Approved FLJ32001, PPP1R64 uc001ibp.3 Q6PJW8 OTTHUMG00000040090 ENST00000366513.4:c.104C>T 1.__UNKNOWN__:g.246754968C>T ENSP00000355470:p.Ala35Val Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5 __UNKNOWN__ CCDS1628.1 . . . . . . . . . . C 11.84 1.759866 0.31137 . . ENSG00000162852 ENST00000366513;ENST00000366512;ENST00000366511 T;T;T 0.13420 2.59;2.59;2.59 6.17 -0.332 0.12675 . 0.470518 0.20497 N 0.091172 T 0.08268 0.0206 N 0.22421 0.69 0.20638 N 0.999879 B;B 0.14012 0.009;0.009 B;B 0.15484 0.009;0.013 T 0.36311 -0.9753 10 0.21014 T 0.42 -15.8762 11.4496 0.50145 0.0:0.8016:0.0:0.1984 . 35;35 Q6PJW8;Q6PJW8-2 CNST_HUMAN;. V 35 ENSP00000355470:A35V;ENSP00000355469:A35V;ENSP00000355468:A35V ENSP00000355468:A35V A + 2 0 CNST 244821591 0.495000 0.26051 0.880000 0.34516 0.994000 0.84299 0.438000 0.21559 -0.056000 0.13221 0.655000 0.94253 GCA CNST-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000096780.1 + ENST00000366513.4 Missense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 UPF2 26019 broad.mit.edu 37 10 12071006 12071006 + Missense_Mutation SNP T T C TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr10:12071006T>C ENST00000356352.2 - 2.0 1356 c.883A>G c.(883-885)Att>Gtt p.I295V UPF2_ENST00000357604.5_Missense_Mutation_p.I295V|UPF2_ENST00000397053.2_Missense_Mutation_p.I295V Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 295.0 MIF4G 1. gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070) cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634) RNA binding (GO:0003723) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56.0 Renal(717;0.228) TCAGCATTAATAATATTTTTT 0.368 0 63.0 63.0 63.0 10 12071006.0 2203.0 4300.0 6503.0 SO:0001583 missense AB037829 CCDS7086.1 10p14-p13 2011-06-21 ENSG00000151461 ENSG00000151461 26019.0 26019.0 17854.0 protein-coding gene gene with protein product """smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)""" 605529 11073994, 11113196 Standard NM_080599 Approved RENT2, DKFZP434D222, KIAA1408, smg-3 uc001ilb.3 Q9HAU5 OTTHUMG00000017678 ENST00000356352.2:c.883A>G 10.__UNKNOWN__:g.12071006T>C ENSP00000348708:p.Ile295Val A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9 __UNKNOWN__ CCDS7086.1 . . . . . . . . . . T 15.95 2.983033 0.53827 . . ENSG00000151461 ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977 T;T;T 0.21543 2.0;2.0;2.0 6.17 5.03 0.67393 MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1); 0.000000 0.85682 D 0.000000 T 0.26304 0.0642 L 0.49455 1.56 0.80722 D 1 B;P 0.43477 0.106;0.808 B;P 0.46172 0.032;0.506 T 0.01051 -1.1468 10 0.39692 T 0.17 . 12.6751 0.56889 0.0:0.065:0.0:0.935 . 265;295 Q9HAU5-2;Q9HAU5 .;RENT2_HUMAN V 295;295;265;295;265 ENSP00000348708:I295V;ENSP00000350221:I295V;ENSP00000380244:I295V ENSP00000313617:I265V I - 1 0 UPF2 12111012 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.120000 0.64685 2.371000 0.80710 0.533000 0.62120 ATT UPF2-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000046783.1 - ENST00000356352.2 Missense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 MERTK 10461 broad.mit.edu 37 2 112722783 112722783 + Missense_Mutation SNP C C T rs35252762 byFrequency TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr2:112722783C>T ENST00000295408.4 + 5.0 1030 c.773C>T c.(772-774)gCg>gTg p.A258V MERTK_ENST00000421804.2_Missense_Mutation_p.A258V|MERTK_ENST00000409780.1_Missense_Mutation_p.A82V Q12866 MERTK_HUMAN MER proto-oncogene, tyrosine kinase 258.0 Ig-like C2-type 2. apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) 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) 46.0 ACGGAGATGGCGGTCTTCAGT 0.502 0 122.0 98.0 106.0 2 112722783.0 2203.0 4300.0 6503.0 SO:0001583 missense U08023 CCDS2094.1 2q14.1 2014-06-26 2014-06-26 ENSG00000153208 ENSG00000153208 10461.0 10461.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 7027.0 protein-coding gene gene with protein product 604705 """c-mer proto-oncogene tyrosine kinase""" 8086340, 10343112 Standard XM_005263565 Approved mer, RP38 uc002thk.1 Q12866 OTTHUMG00000131278 ENST00000295408.4:c.773C>T 2.__UNKNOWN__:g.112722783C>T ENSP00000295408:p.Ala258Val Q9HBB4 __UNKNOWN__ CCDS2094.1 . . . . . . . . . . C 24.2 4.507892 0.85282 . . ENSG00000153208 ENST00000295408;ENST00000421804;ENST00000409780 T;T;T 0.38560 1.13;1.13;1.13 5.6 5.6 0.85130 Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.244798 0.20989 U 0.082066 T 0.54727 0.1876 M 0.78916 2.43 0.47476 D 0.99943 D 0.53312 0.959 P 0.46237 0.508 T 0.62558 -0.6829 10 0.72032 D 0.01 -17.3431 19.2107 0.93753 0.0:1.0:0.0:0.0 . 258 Q12866 MERTK_HUMAN V 258;258;82 ENSP00000295408:A258V;ENSP00000389152:A258V;ENSP00000387277:A82V ENSP00000295408:A258V A + 2 0 MERTK 112439254 0.927000 0.31430 0.043000 0.18650 0.335000 0.28730 4.966000 0.63715 2.640000 0.89533 0.563000 0.77884 GCG MERTK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254046.2 + ENST00000295408.4 Missense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 CLK2 1196 broad.mit.edu 37 1 155234529 155234529 + Missense_Mutation SNP G G A TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr1:155234529G>A ENST00000361168.5 - 9.0 1053 c.967C>T c.(967-969)Cgg>Tgg p.R323W CLK2_ENST00000355560.4_Missense_Mutation_p.R322W|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000368361.4_Missense_Mutation_p.R324W|CLK2_ENST00000536801.1_Missense_Mutation_p.R324W P49760 CLK2_HUMAN CDC-like kinase 2 324.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526) nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713) endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22.0 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCTACCACCCGCACAGCTGTG 0.532 Other conserved DNA damage response genes 0 117.0 102.0 107.0 1 155234529.0 2203.0 4300.0 6503.0 SO:0001583 missense L29218 CCDS1107.1, CCDS72939.1 1q21 2008-05-02 ENSG00000176444 ENSG00000176444 1196.0 1196.0 """CDC-like kinases""" 2069.0 protein-coding gene gene with protein product 602989 7990150, 9856501 Standard NM_003993 XM_005244876 Approved clk2 uc001fjw.3 P49760 OTTHUMG00000035873 ENST00000361168.5:c.967C>T 1.__UNKNOWN__:g.155234529G>A ENSP00000354856:p.Arg323Trp B1AVS9|B5MBX6|Q96CQ0 __UNKNOWN__ CCDS1107.1 . . . . . . . . . . . 19.63 3.864222 0.71949 . . ENSG00000176444 ENST00000361168;ENST00000368361;ENST00000355560;ENST00000424156;ENST00000536801 T;T;T;T 0.21031 2.03;2.03;2.03;2.03 5.0 5.0 0.66597 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.40979 0.1139 M 0.85630 2.765 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.999 T 0.37244 -0.9714 10 0.87932 D 0 . 11.1193 0.48279 0.0:0.0:0.7243:0.2757 . 324;323 P49760;P49760-3 CLK2_HUMAN;. W 323;324;322;96;324 ENSP00000354856:R323W;ENSP00000357345:R324W;ENSP00000347759:R322W;ENSP00000441023:R324W ENSP00000347759:R322W R - 1 2 CLK2 153501153 1.000000 0.71417 1.000000 0.80357 0.978000 0.69477 3.161000 0.50747 2.767000 0.95098 0.650000 0.86243 CGG CLK2-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000087392.1 - ENST00000361168.5 Missense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 HSDL2 84263 broad.mit.edu 37 9 115200815 115200815 + Missense_Mutation SNP C C G TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr9:115200815C>G ENST00000398805.3 + 7.0 930 c.703C>G c.(703-705)Cca>Gca p.P235A HSDL2_ENST00000262542.7_Missense_Mutation_p.P115A|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000398803.1_Missense_Mutation_p.P162A|HSDL2_ENST00000539114.1_Missense_Mutation_p.P30A NM_032303.4 NP_115679.2 Q6YN16 HSDL2_HUMAN hydroxysteroid dehydrogenase like 2 235.0 membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777) oxidoreductase activity (GO:0016491) NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 13.0 TTTCCAAAAGCCAAAAAGTTT 0.358 0 77.0 70.0 72.0 9 115200815.0 1828.0 4085.0 5913.0 SO:0001583 missense AY093428 CCDS43864.1, CCDS56582.1 9q32 2011-09-14 ENSG00000119471 ENSG00000119471 84263.0 84263.0 """Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1""" 18572.0 protein-coding gene gene with protein product """short chain dehydrogenase/reductase family 13C, member 1""" """chromosome 9 open reading frame 99""" C9orf99 12834046, 19027726 Standard NM_032303 NM_032303 Approved SDR13C1 uc004bga.2 Q6YN16 OTTHUMG00000020504 ENST00000398805.3:c.703C>G 9.__UNKNOWN__:g.115200815C>G ENSP00000381785:p.Pro235Ala A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58 __UNKNOWN__ CCDS43864.1 . . . . . . . . . . C 22.3 4.268625 0.80469 . . ENSG00000119471 ENST00000398805;ENST00000398803;ENST00000262542;ENST00000539114 D;D;T;T 0.89485 -2.52;-2.52;1.78;1.9 5.58 5.58 0.84498 . 0.000000 0.85682 D 0.000000 D 0.89136 0.6629 M 0.77313 2.365 0.80722 D 1 P;P 0.48503 0.911;0.822 B;B 0.38156 0.266;0.193 D 0.90230 0.4278 10 0.51188 T 0.08 . 19.5631 0.95380 0.0:1.0:0.0:0.0 . 162;235 Q6YN16-2;Q6YN16 .;HSDL2_HUMAN A 235;162;115;30 ENSP00000381785:P235A;ENSP00000381783:P162A;ENSP00000262542:P115A;ENSP00000442278:P30A ENSP00000262542:P115A P + 1 0 HSDL2 114240636 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 5.724000 0.68500 2.628000 0.89032 0.491000 0.48974 CCA HSDL2-002 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053681.1 + ENST00000398805.3 Missense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 DYM 54808 broad.mit.edu 37 18 46858298 46858298 + Silent SNP G G T TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr18:46858298G>T ENST00000578396.1 - 5.0 437 c.234C>A c.(232-234)gcC>gcA p.A78A DYM_ENST00000269445.6_Silent_p.A233A|DYM_ENST00000442713.2_Intron Q7RTS9 DYM_HUMAN dymeclin 233.0 bone development (GO:0060348)|Golgi organization (GO:0007030) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794) enzyme binding (GO:0019899) NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18.0 GGAAAACATGGGCCCCTGGAG 0.403 0 95.0 101.0 99.0 18 46858298.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK000078 CCDS11937.1 18q21.1 2008-03-12 ENSG00000141627 ENSG00000141627 54808.0 54808.0 21317.0 protein-coding gene gene with protein product 607461 Standard NM_017653 NM_017653 Approved FLJ20071, DMC, SMC uc002ldi.1 Q7RTS9 OTTHUMG00000132659 ENST00000578396.1:c.234C>A 18.__UNKNOWN__:g.46858298G>T A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7 __UNKNOWN__ DYM-012 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000447876.2 - ENST00000578396.1 Silent SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 RRAS2 22800 broad.mit.edu 37 11 14317330 14317330 + Missense_Mutation SNP T T A TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr11:14317330T>A ENST00000256196.4 - 2.0 493 c.180A>T c.(178-180)agA>agT p.R60S RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.R25S|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000545643.1_Missense_Mutation_p.R66S P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 60.0 osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|GTPase activity (GO:0003924) breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 12.0 Epithelial(150;0.203) GCCGGGCTGCTCTGTCATCTA 0.308 0 130.0 135.0 133.0 11 14317330.0 2200.0 4294.0 6494.0 SO:0001583 missense M31468 CCDS7814.1, CCDS44544.1, CCDS53603.1 11p15.2 2014-05-09 ENSG00000133818 ENSG00000133818 22800.0 22800.0 17271.0 protein-coding gene gene with protein product 600098 2108320, 8052619 Standard NM_012250 NM_012250 Approved TC21 uc001mlf.4 P62070 OTTHUMG00000165756 ENST00000256196.4:c.180A>T 11.__UNKNOWN__:g.14317330T>A ENSP00000256196:p.Arg60Ser B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082 __UNKNOWN__ CCDS7814.1 . . . . . . . . . . T 13.53 2.264293 0.39995 . . ENSG00000133818 ENST00000537760;ENST00000545643;ENST00000256196;ENST00000531807 T;T;T;T 0.76839 -1.05;-1.05;-1.05;-1.05 4.82 2.45 0.29901 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 T 0.58438 0.2122 N 0.13140 0.3 0.53688 D 0.999979 B;B 0.24618 0.093;0.107 B;B 0.30572 0.117;0.045 T 0.50074 -0.8870 10 0.59425 D 0.04 . 3.1341 0.06434 0.1786:0.3291:0.0:0.4923 . 66;60 B7Z5Z2;P62070 .;RRAS2_HUMAN S 25;66;60;41 ENSP00000437547:R25S;ENSP00000441722:R66S;ENSP00000256196:R60S;ENSP00000435453:R41S ENSP00000256196:R60S R - 3 2 RRAS2 14273906 1.000000 0.71417 0.988000 0.46212 0.754000 0.42855 1.623000 0.37008 0.279000 0.22186 0.260000 0.18958 AGA RRAS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000386035.1 - ENST00000256196.4 Missense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 GPNMB 10457 broad.mit.edu 37 7 23296635 23296635 + Missense_Mutation SNP C C G TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr7:23296635C>G ENST00000381990.2 + 4.0 653 c.492C>G c.(490-492)caC>caG p.H164Q GPNMB_ENST00000258733.4_Missense_Mutation_p.H164Q|GPNMB_ENST00000539136.1_Missense_Mutation_p.H65Q|GPNMB_ENST00000409458.3_Missense_Mutation_p.H164Q|GPNMB_ENST00000453162.2_Intron NM_001005340.1|NM_002510.2 NP_001005340.1|NP_002501.1 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 164.0 bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649) cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) heparin binding (GO:0008201) breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41.0 GBM - Glioblastoma multiforme(13;0.154) CTTTTCCTCACCACCCCGGAT 0.463 0 132.0 117.0 122.0 7 23296635.0 2203.0 4300.0 6503.0 SO:0001583 missense X76534 CCDS5380.1, CCDS34610.1 7p 2008-07-18 ENSG00000136235 ENSG00000136235 10457.0 10457.0 4462.0 protein-coding gene gene with protein product """transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin""" 604368 7814155 Standard NM_001005340 NM_002510 Approved NMB, HGFIN uc003swc.3 Q14956 OTTHUMG00000022811 ENST00000381990.2:c.492C>G 7.__UNKNOWN__:g.23296635C>G ENSP00000371420:p.His164Gln A4D155|Q6UVX1|Q8N1A1 __UNKNOWN__ CCDS34610.1 . . . . . . . . . . C 8.669 0.902402 0.17760 . . ENSG00000136235 ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000539136 T;T;T;T 0.12569 2.67;2.67;2.67;2.67 5.04 0.976 0.19727 . 0.811587 0.11379 N 0.570057 T 0.08980 0.0222 L 0.38838 1.175 0.09310 N 0.999999 P;B;B;P 0.38767 0.646;0.112;0.019;0.646 B;B;B;B 0.35931 0.214;0.047;0.009;0.214 T 0.31833 -0.9929 10 0.19590 T 0.45 -0.0029 5.925 0.19108 0.0:0.4736:0.2654:0.261 . 65;164;164;164 F6SKP1;Q14956;Q14956-2;Q96F58 .;GPNMB_HUMAN;.;. Q 164;199;164;164;65 ENSP00000258733:H164Q;ENSP00000371420:H164Q;ENSP00000386476:H164Q;ENSP00000445266:H65Q ENSP00000258733:H164Q H + 3 2 GPNMB 23263160 0.004000 0.15560 0.001000 0.08648 0.528000 0.34623 0.433000 0.21477 0.215000 0.20761 -0.305000 0.09177 CAC GPNMB-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000327152.1 + ENST00000381990.2 Missense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 HEATR2 54919 broad.mit.edu 37 7 801450 801450 + Missense_Mutation SNP G G C TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr7:801450G>C ENST00000297440.6 + 7.0 1551 c.1531G>C c.(1531-1533)Gac>Cac p.D511H HEATR2_ENST00000313147.5_Missense_Mutation_p.D511H NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 511.0 cytoplasm (GO:0005737) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22.0 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) GTGTCATGAGGACTGTGGCGT 0.602 0 93.0 67.0 76.0 7 801450.0 2203.0 4300.0 6503.0 SO:0001583 missense AL832914, AK000404, NM_017802, AK056233 CCDS34580.1 7p22.3 2014-05-06 2006-05-19 ENSG00000164818 ENSG00000164818 54919.0 54919.0 26013.0 protein-coding gene gene with protein product 614864 23040496 Standard NM_017802 NM_017802 Approved FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18 uc010krz.1 Q86Y56 OTTHUMG00000151416 ENST00000297440.6:c.1531G>C 7.__UNKNOWN__:g.801450G>C ENSP00000297440:p.Asp511His Q69YL1|Q96FI9|Q9NX75 __UNKNOWN__ CCDS34580.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 14.90|14.90 2.673837|2.673837 0.47781|0.47781 .|. .|. ENSG00000164818|ENSG00000164818 ENST00000297440;ENST00000313147;ENST00000537862|ENST00000440747 T;T|. 0.34859|. 1.34;1.34|. 5.38|5.38 5.38|5.38 0.77491|0.77491 Armadillo-like helical (1);Armadillo-type fold (1);|. 0.054132|. 0.64402|. D|. 0.000001|. T|T 0.78349|0.78349 0.4269|0.4269 M|M 0.80183|0.80183 2.485|2.485 0.53005|0.53005 D|D 0.999967|0.999967 D;D|. 0.69078|. 0.997;0.996|. P;P|. 0.60415|. 0.854;0.874|. T|T 0.79137|0.79137 -0.1927|-0.1927 10|5 0.62326|. D|. 0.03|. -37.3126|-37.3126 18.0906|18.0906 0.89474|0.89474 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 511;257|. Q86Y56;F5H8D4|. HEAT2_HUMAN;.|. H|A 511;511;257|312 ENSP00000297440:D511H;ENSP00000321451:D511H|. ENSP00000297440:D511H|. D|G +|+ 1|2 0|0 HEATR2|HEATR2 767976|767976 1.000000|1.000000 0.71417|0.71417 0.967000|0.967000 0.41034|0.41034 0.024000|0.024000 0.10985|0.10985 6.981000|6.981000 0.76166|0.76166 2.524000|2.524000 0.85096|0.85096 0.561000|0.561000 0.74099|0.74099 GAC|GGA HEATR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000322542.1 + ENST00000297440.6 Missense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 C1orf56 54964 broad.mit.edu 37 1 151020749 151020749 + Silent SNP T T C TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr1:151020749T>C ENST00000368926.5 + 1.0 534 c.426T>C c.(424-426)aaT>aaC p.N142N NM_017860.3 NP_060330.2 Q9BUN1 MENT_HUMAN chromosome 1 open reading frame 56 142.0 cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634) endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7.0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TTATAGCCAATAGTCAGGAGC 0.592 OREG0013793 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GBM(146;891 3320 6873) 0 42.0 43.0 42.0 1 151020749.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC002469 CCDS980.1 1q21.2 2013-09-20 ENSG00000143443 ENSG00000143443 54964.0 54964.0 26045.0 protein-coding gene gene with protein product """methylated in normal thymocytes""" 12975309, 22133874 Standard NM_017860 NM_017860 Approved FLJ20519, MENT uc001ewn.3 Q9BUN1 OTTHUMG00000035159 ENST00000368926.5:c.426T>C 1.__UNKNOWN__:g.151020749T>C 1737.0 B2RDU8|Q9NWZ4 __UNKNOWN__ CCDS980.1 C1orf56-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000085101.1 + ENST00000368926.5 Silent SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 OGDHL 55753 broad.mit.edu 37 10 50948877 50948877 + Silent SNP C C G TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr10:50948877C>G ENST00000374103.4 - 16.0 2104 c.2019G>C c.(2017-2019)cgG>cgC p.R673R OGDHL_ENST00000419399.1_Silent_p.R616R|OGDHL_ENST00000432695.1_Silent_p.R464R NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 673.0 glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099) mitochondrion (GO:0005739) metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976) 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) 61.0 GAACATGGTGCCGGTGACTGC 0.637 0 114.0 87.0 96.0 10 50948877.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK001713 CCDS7234.1, CCDS44390.1, CCDS44391.1 10q11.23 2013-09-20 ENSG00000197444 ENSG00000197444 55753.0 55753.0 25590.0 protein-coding gene gene with protein product 10574462 Standard NM_018245 NM_018245 Approved FLJ10851 uc001jie.3 Q9ULD0 OTTHUMG00000018200 ENST00000374103.4:c.2019G>C 10.__UNKNOWN__:g.50948877C>G A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0 __UNKNOWN__ CCDS7234.1 OGDHL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048007.1 - ENST00000374103.4 Silent SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 HECTD4 283450 broad.mit.edu 37 12 112654688 112654688 + Missense_Mutation SNP T T G rs151140008 by1000genomes TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr12:112654688T>G ENST00000550722.1 - 47.0 7231 c.6836A>C c.(6835-6837)tAt>tCt p.Y2279S HECTD4_ENST00000377560.5_Missense_Mutation_p.Y2253S|HECTD4_ENST00000430131.2_Missense_Mutation_p.Y2003S NM_001109662.3 NP_001103132.3 Q9Y4D8 HECD4_HUMAN HECT domain containing E3 ubiquitin protein ligase 4 2003.0 glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) GGTGTCTCCATAGGAAACGAT 0.502 0 87.0 83.0 84.0 12 112654688.0 1883.0 4120.0 6003.0 SO:0001583 missense AK091473 12q24.13 2013-07-17 2012-08-14 2012-08-14 ENSG00000173064 ENSG00000173064 283450.0 283450.0 26611.0 protein-coding gene gene with protein product """chromosome 12 open reading frame 51""" C12orf51 21270382 Standard NM_173813 NM_001109662 Approved FLJ34154, KIAA0614 uc021reb.1 Q9Y4D8 OTTHUMG00000150719 ENST00000550722.1:c.6836A>C 12.__UNKNOWN__:g.112654688T>G ENSP00000449784:p.Tyr2279Ser L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 22.0|22.0 4.235504|4.235504 0.79800|0.79800 .|. .|. ENSG00000173064|ENSG00000173064 ENST00000550968|ENST00000377560;ENST00000430131;ENST00000550722 .|T;T;T .|0.49432 .|0.78;0.78;0.78 5.81|5.81 5.81|5.81 0.92471|0.92471 .|. .|. .|. .|. .|. T|T 0.30792|0.30792 0.0776|0.0776 N|N 0.08118|0.08118 0|0 0.51233|0.51233 D|D 0.999915|0.999915 .|P .|0.41673 .|0.759 .|B .|0.37387 .|0.248 T|T 0.35699|0.35699 -0.9778|-0.9778 5|9 .|0.87932 .|D .|0 .|. 16.1708|16.1708 0.81812|0.81812 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. .|2003 .|Q9Y4D8 .|K0614_HUMAN L|S 170|2253;2003;2279 .|ENSP00000366783:Y2253S;ENSP00000404379:Y2003S;ENSP00000449784:Y2279S .|ENSP00000366783:Y2253S M|Y -|- 1|2 0|0 C12orf51|C12orf51 111139071|111139071 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.870000|0.870000 0.49936|0.49936 5.850000|5.850000 0.69473|0.69473 2.225000|2.225000 0.72522|0.72522 0.533000|0.533000 0.62120|0.62120 ATG|TAT HECTD4-001 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000405222.1 - ENST00000550722.1 Missense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 PIK3R5 23533 broad.mit.edu 37 17 8789897 8789897 + Missense_Mutation SNP G G A TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr17:8789897G>A ENST00000447110.1 - 13.0 2055 c.1931C>T c.(1930-1932)gCc>gTc p.A644V PIK3R5_ENST00000581552.1_Missense_Mutation_p.A644V|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A643V NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 644.0 blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281) 1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) 1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34.0 GCCCTCCAGGGCCTGGGCTTC 0.602 NSCLC(18;589 615 7696 20311 50332) 0 54.0 62.0 59.0 17 8789897.0 2202.0 4300.0 6502.0 SO:0001583 missense AF128881 CCDS11147.1, CCDS73986.1 17p13.1 2011-10-13 2008-02-04 ENSG00000141506 ENSG00000141506 23533.0 23533.0 30035.0 protein-coding gene gene with protein product 611317 12507995 Standard NM_014308 NM_014308 Approved P101-PI3K, p101 uc002glt.3 Q8WYR1 OTTHUMG00000108197 ENST00000447110.1:c.1931C>T 17.__UNKNOWN__:g.8789897G>A ENSP00000392812:p.Ala644Val B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2 __UNKNOWN__ CCDS11147.1 . . . . . . . . . . G 11.01 1.512809 0.27123 . . ENSG00000141506 ENST00000269300;ENST00000447110 T 0.78364 -1.17 4.25 3.26 0.37387 . 0.476905 0.23985 N 0.042633 T 0.57666 0.2069 N 0.08118 0 0.25002 N 0.991463 B 0.24317 0.101 B 0.20955 0.032 T 0.45920 -0.9228 10 0.27082 T 0.32 -15.092 12.9449 0.58367 0.0:0.0:0.8362:0.1638 . 644 Q8WYR1 PI3R5_HUMAN V 644 ENSP00000392812:A644V ENSP00000269300:A644V A - 2 0 PIK3R5 8730622 0.762000 0.28451 0.815000 0.32552 0.411000 0.31082 1.684000 0.37649 0.974000 0.38366 0.313000 0.20887 GCC PIK3R5-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000227003.2 - ENST00000447110.1 Missense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 BUB1 699 broad.mit.edu 37 2 111413372 111413372 + Missense_Mutation SNP G G A TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr2:111413372G>A ENST00000302759.6 - 16.0 1938 c.1820C>T c.(1819-1821)gCg>gTg p.A607V BUB1_ENST00000409311.1_Missense_Mutation_p.A607V|BUB1_ENST00000535254.1_Missense_Mutation_p.A587V NM_004336.3 NP_004327.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 607.0 apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032) condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45.0 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) TGGTGTAGACGCAAGTTGTGC 0.463 0 238.0 217.0 224.0 2 111413372.0 2203.0 4300.0 6503.0 SO:0001583 missense AF046078 CCDS33273.1, CCDS62984.1, CCDS62985.1 2q13 2013-01-17 2013-01-17 ENSG00000169679 ENSG00000169679 699.0 699.0 1148.0 protein-coding gene gene with protein product 602452 """budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)""" BUB1L Standard NM_004336 NM_004336 Approved hBUB1, BUB1A uc002tgc.3 O43683 OTTHUMG00000153638 ENST00000302759.6:c.1820C>T 2.__UNKNOWN__:g.111413372G>A ENSP00000302530:p.Ala607Val E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4 __UNKNOWN__ CCDS33273.1 . . . . . . . . . . G 12.16 1.855712 0.32791 . . ENSG00000169679 ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432 T;T;T 0.32023 2.24;1.47;2.5 5.73 4.86 0.63082 . 0.284569 0.38663 N 0.001614 T 0.19366 0.0465 L 0.41573 1.285 0.22745 N 0.998784 P;P;P 0.39250 0.601;0.505;0.665 B;B;B 0.24006 0.043;0.05;0.036 T 0.12785 -1.0534 10 0.20046 T 0.44 -9.9651 12.3922 0.55364 0.0813:0.0:0.9187:0.0 . 587;607;607 F5GXI5;E9PC26;O43683 .;.;BUB1_HUMAN V 587;607;607;607 ENSP00000441013:A587V;ENSP00000386701:A607V;ENSP00000302530:A607V ENSP00000302530:A607V A - 2 0 BUB1 111129845 0.992000 0.36948 0.015000 0.15790 0.930000 0.56654 4.198000 0.58419 1.410000 0.46936 0.655000 0.94253 GCG BUB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000331925.1 - ENST00000302759.6 Missense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 P2RY1 5028 broad.mit.edu 37 3 152554482 152554482 + Missense_Mutation SNP C C T TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr3:152554482C>T ENST00000305097.3 + 1.0 1747 c.911C>T c.(910-912)gCc>gTc p.A304V NM_002563.3 NP_002554.1 P47900 P2RY1_HUMAN purinergic receptor P2Y, G-protein coupled, 1 304.0 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110) breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23.0 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) AGGGTTTATGCCACGTATCAG 0.478 0 108.0 110.0 110.0 3 152554482.0 2203.0 4300.0 6503.0 SO:0001583 missense U42029 CCDS3169.1 3q25.2 2012-08-08 ENSG00000169860 ENSG00000169860 5028.0 5028.0 """Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y""" 8539.0 protein-coding gene gene with protein product 601167 8579591 Standard NM_002563 NM_002563 Approved P2Y1 uc003ezq.3 P47900 OTTHUMG00000159694 ENST00000305097.3:c.911C>T 3.__UNKNOWN__:g.152554482C>T ENSP00000304767:p.Ala304Val __UNKNOWN__ CCDS3169.1 . . . . . . . . . . C 12.84 2.058394 0.36277 . . ENSG00000169860 ENST00000305097 T 0.12984 2.63 5.58 5.58 0.84498 GPCR, rhodopsin-like superfamily (1); 0.000000 0.85682 D 0.000000 T 0.23492 0.0568 N 0.24115 0.695 0.80722 D 1 D 0.76494 0.999 D 0.87578 0.998 T 0.05937 -1.0855 10 0.11794 T 0.64 . 18.5615 0.91101 0.0:1.0:0.0:0.0 . 304 P47900 P2RY1_HUMAN V 304 ENSP00000304767:A304V ENSP00000304767:A304V A + 2 0 P2RY1 154037172 1.000000 0.71417 1.000000 0.80357 0.981000 0.71138 7.711000 0.84669 2.618000 0.88619 0.563000 0.77884 GCC P2RY1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356943.1 + ENST00000305097.3 Missense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 CEP192 55125 broad.mit.edu 37 18 13049394 13049394 + Silent SNP A A G TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr18:13049394A>G ENST00000506447.1 + 16.0 2684 c.2604A>G c.(2602-2604)acA>acG p.T868T CEP192_ENST00000430049.2_Silent_p.T393T|CEP192_ENST00000325971.8_Silent_p.T272T NM_032142.3 NP_115518.3 Q8TEP8 CE192_HUMAN centrosomal protein 192kDa 272.0 centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829) phosphatase binding (GO:0019902) 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) 71.0 ATTCAGTTACAAATAGAGAGA 0.363 0 86.0 80.0 82.0 18 13049394.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK074074 CCDS32792.1, CCDS32792.2 18p11.21 2014-02-20 ENSG00000101639 55125.0 55125.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 25515.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 62""" 11230166, 14654843 Standard NM_032142 NM_032142 Approved KIAA1569, FLJ10352, PPP1R62 uc010xac.2 Q8TEP8 ENST00000506447.1:c.2604A>G 18.__UNKNOWN__:g.13049394A>G A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27 __UNKNOWN__ CCDS32792.2 CEP192-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000361790.1 + ENST00000506447.1 Silent SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 LOXL4 84171 broad.mit.edu 37 10 100015403 100015403 + Frame_Shift_Del DEL G G - TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr10:100015403delG ENST00000260702.3 - 10.0 1672 c.1522delC c.(1522-1524)cagfs p.Q508fs RP11-34A14.3_ENST00000433374.1_RNA NM_032211.6 NP_115587.6 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 508.0 SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}. extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235) copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044) breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2) 26.0 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) CCGTGCCTCTGGCACTGCTGC 0.667 0 56.0 56.0 56.0 10 100015403.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant AF338441 CCDS7473.1 10q24 2008-08-01 ENSG00000138131 ENSG00000138131 84171.0 84171.0 17171.0 protein-coding gene gene with protein product 607318 11292829 Standard NM_032211 XM_005270216 Approved FLJ21889, LOXC uc001kpa.1 Q96JB6 OTTHUMG00000018874 ENST00000260702.3:c.1522delC 10.__UNKNOWN__:g.100015403delG ENSP00000260702:p.Gln508fs Q5W0B3|Q96DY1|Q96PC0|Q9H6T5 __UNKNOWN__ CCDS7473.1 LOXL4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049766.1 - ENST00000260702.3 Frame_Shift_Del DEL PCPG-TCGA-WB-A815-Normal-SM-5EMN9 NUDT7 283927 bcgsc.ca 37 16 77775707 77775707 + Missense_Mutation SNP G G A TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr16:77775707G>A ENST00000437314.3 + 3.0 482 c.418G>A c.(418-420)Gca>Aca p.A140T NUDT7_ENST00000268533.5_Missense_Mutation_p.A193T|NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000563839.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA NM_001243661.1 NP_001230590.1 P0C024 NUDT7_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 7 193.0 Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}. acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132) peroxisome (GO:0005777) acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515) breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1) 18.0 GGGAATGACGGCAAACCTTGC 0.403 0 90.0 83.0 85.0 16 77775707.0 1909.0 4135.0 6044.0 SO:0001583 missense AA227330 CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1 16q23.1 2007-06-15 ENSG00000140876 283927.0 283927.0 """Nudix motif containing""" 8054.0 protein-coding gene gene with protein product 609231 11415433 Standard NM_001105663 Approved uc010chd.3 P0C024 ENST00000437314.3:c.418G>A 16.__UNKNOWN__:g.77775707G>A ENSP00000387707:p.Ala140Thr B4DLE5|H3BUB8 __UNKNOWN__ CCDS58480.1 . . . . . . . . . . G 18.81 3.703028 0.68501 . . ENSG00000140876 ENST00000268533;ENST00000437314 T;T 0.46819 0.86;0.86 5.4 3.35 0.38373 NUDIX hydrolase domain (1);NUDIX hydrolase domain-like (1); 0.112473 0.64402 D 0.000012 T 0.67534 0.2903 M 0.81942 2.565 0.80722 D 1 D;D 0.76494 0.999;0.999 D;D 0.68943 0.927;0.961 T 0.71258 -0.4646 10 0.87932 D 0 -12.0881 12.9523 0.58407 0.0:0.0:0.6962:0.3038 . 140;193 B4DLE5;P0C024 .;NUDT7_HUMAN T 193;140 ENSP00000268533:A193T;ENSP00000387707:A140T ENSP00000268533:A193T A + 1 0 NUDT7 76333208 1.000000 0.71417 0.008000 0.14137 0.006000 0.05464 4.956000 0.63645 0.569000 0.29329 0.561000 0.74099 GCA NUDT7-001 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000433875.1 + ENST00000437314.3 Missense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 Unknown 0 bcgsc.ca 37 4 83049899 83049899 + RNA SNP G G T TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr4:83049899G>T RP11-689K5.3 (84502 upstream) : RNU6-499P (45800 downstream) CAAACCAAACGTTCCAGGGGC 0.438 0 SO:0001628 intergenic_variant 4.__UNKNOWN__:g.83049899G>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 Unknown 0 bcgsc.ca 37 7 55004189 55004189 + RNA SNP A A C TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr7:55004189A>C SNORA73 (70472 upstream) : EGFR (82524 downstream) CTAGAGAAAAAACATATGATA 0.318 0 SO:0001628 intergenic_variant 7.__UNKNOWN__:g.55004189A>C __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 PLXDC1 57125 ucsc.edu 37 17 37243874 37243874 + Missense_Mutation SNP A A T TCGA-WB-A815-01A-11D-A35I-08 TCGA-WB-A815-10A-01D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq db4e906f-677c-4446-8bcd-b7d03f90a56a b2a3bd0c-6744-4386-9c3a-3d414d4c521a g.chr17:37243874A>T ENST00000315392.4 - 8.0 1104 c.893T>A c.(892-894)tTc>tAc p.F298Y PLXDC1_ENST00000444911.2_Missense_Mutation_p.F258Y|PLXDC1_ENST00000394316.2_Missense_Mutation_p.F298Y|PLXDC1_ENST00000539608.1_Missense_Mutation_p.F225Y|PLXDC1_ENST00000493200.1_5'UTR NM_020405.4 NP_065138.2 Q8IUK5 PLDX1_HUMAN plexin domain containing 1 298.0 angiogenesis (GO:0001525)|spinal cord development (GO:0021510) cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923) receptor activity (GO:0004872) kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23.0 CAATGGGGTGAACTCCACGGC 0.567 0 98.0 74.0 82.0 17 37243874.0 2203.0 4300.0 6503.0 SO:0001583 missense AF279144 CCDS11333.1 17q21.1 2006-04-12 ENSG00000161381 ENSG00000161381 57125.0 57125.0 20945.0 protein-coding gene gene with protein product """tumor endothelial marker 7 precursor""" 606826 10947988, 11559528 Standard NM_020405 NM_020405 Approved TEM3, TEM7 uc002hrg.2 Q8IUK5 OTTHUMG00000133183 ENST00000315392.4:c.893T>A 17.__UNKNOWN__:g.37243874A>T ENSP00000323927:p.Phe298Tyr B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9 __UNKNOWN__ CCDS11333.1 . . . . . . . . . . A 14.54 2.567308 0.45694 . . ENSG00000161381 ENST00000315392;ENST00000394318;ENST00000539608;ENST00000444911;ENST00000394316 T;T;T;T 0.76316 -1.01;-1.01;-1.01;-1.01 6.04 6.04 0.98038 . 0.171352 0.50627 D 0.000104 T 0.81564 0.4849 M 0.64404 1.975 0.40764 D 0.983034 D;D 0.56521 0.958;0.976 B;P 0.52343 0.444;0.696 D 0.83736 0.0201 10 0.59425 D 0.04 -35.9314 12.9681 0.58497 1.0:0.0:0.0:0.0 . 258;298 B4E173;Q8IUK5 .;PXDC1_HUMAN Y 298;225;225;258;298 ENSP00000323927:F298Y;ENSP00000441881:F225Y;ENSP00000409687:F258Y;ENSP00000377851:F298Y ENSP00000323927:F298Y F - 2 0 PLXDC1 34497400 1.000000 0.71417 1.000000 0.80357 0.769000 0.43574 6.437000 0.73421 2.317000 0.78254 0.459000 0.35465 TTC PLXDC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256892.2 - ENST00000315392.4 Missense_Mutation SNP PCPG-TCGA-WB-A815-Normal-SM-5EMN9 COG7 91949 broad.mit.edu 37 16 23456408 23456409 + Missense_Mutation DNP GC GC AT TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr16:23456408_23456409GC>AT ENST00000307149.5 - 3.0 580_581 c.395_396GC>AT c.(394-396)aGC>aAT p.S132N NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 132.0 intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020) breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27.0 GBM - Glioblastoma multiforme(48;0.0401) CGCTCAACGTGCTCCACTTATC 0.446 0 SO:0001583 missense AF070568 CCDS10610.1 16p12.2 2008-02-05 ENSG00000168434 ENSG00000168434 91949.0 91949.0 """Components of oligomeric golgi complex""" 18622.0 protein-coding gene gene with protein product 606978 11980916 Standard NM_153603 Approved uc002dlo.3 P83436 OTTHUMG00000094807 ENST00000307149.5:c.395_396delinsAT 16.__UNKNOWN__:g.23456408_23456409delinsAT ENSP00000305442:p.Ser132Asn Q6UWU7 __UNKNOWN__ CCDS10610.1 COG7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000211625.1 - ENST00000307149.5 Missense_Mutation DNP PCPG-TCGA-WB-A816-Normal-SM-5EMMS CTDSP2 10106 broad.mit.edu 37 12 58217721 58217721 + Missense_Mutation SNP G G C TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr12:58217721G>C ENST00000398073.2 - 7.0 959 c.656C>G c.(655-657)tCg>tGg p.S219W CTDSP2_ENST00000548823.1_Missense_Mutation_p.S46W|CTDSP2_ENST00000547701.1_Missense_Mutation_p.S67W NM_005730.3 NP_005721.3 O14595 CTDS2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 219.0 FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}. activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470) nucleoplasm (GO:0005654) CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2) 7.0 all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122) AGAAGCAGGCGAGTTGTCCAG 0.582 0 43.0 46.0 45.0 12 58217721.0 2039.0 4190.0 6229.0 SO:0001583 missense AF000152 CCDS41801.1 12q14.1 2012-06-14 ENSG00000175215 ENSG00000175215 10106.0 10106.0 """Serine/threonine phosphatases / CTD aspartate-based phosphatases""" 17077.0 protein-coding gene gene with protein product """conserved gene amplified in osteosarcoma"", ""nuclear LIM interactor-interacting factor 2"", ""NLI-interacting factor 2"", ""small CTD phosphatase 2""" 608711 9315096, 12721286 Standard NM_005730 XM_005268556 Approved OS4, SCP2, PSR2 uc001sqm.3 O14595 OTTHUMG00000170483 ENST00000398073.2:c.656C>G 12.__UNKNOWN__:g.58217721G>C ENSP00000381148:p.Ser219Trp A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1 __UNKNOWN__ CCDS41801.1 . . . . . . . . . . G 23.9 4.473614 0.84640 . . ENSG00000175215 ENST00000398073;ENST00000548823;ENST00000549039;ENST00000547701 T;T;T;T 0.20881 2.04;2.04;2.04;2.04 5.43 5.43 0.79202 NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2); 0.000000 0.85682 D 0.000000 T 0.68559 0.3014 H 0.99726 4.73 0.80722 D 1 P;P;D 0.89917 0.955;0.863;1.0 P;P;D 0.73708 0.661;0.793;0.981 D 0.83604 0.0130 10 0.87932 D 0 -2.5271 18.1553 0.89689 0.0:0.0:1.0:0.0 . 93;46;219 B4DH48;F8W1I1;O14595 .;.;CTDS2_HUMAN W 219;46;73;67 ENSP00000381148:S219W;ENSP00000447046:S46W;ENSP00000448386:S73W;ENSP00000446705:S67W ENSP00000381148:S219W S - 2 0 CTDSP2 56503988 1.000000 0.71417 0.971000 0.41717 0.594000 0.36715 9.575000 0.98187 2.822000 0.97130 0.563000 0.77884 TCG CTDSP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000409353.1 - ENST00000398073.2 Missense_Mutation SNP PCPG-TCGA-WB-A816-Normal-SM-5EMMS TRAK2 66008 broad.mit.edu 37 2 202272251 202272251 + Missense_Mutation SNP T T A TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr2:202272251T>A ENST00000332624.3 - 3.0 589 c.161A>T c.(160-162)tAt>tTt p.Y54F TRAK2_ENST00000430254.1_Missense_Mutation_p.Y54F NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 54.0 HAP1 N-terminal. protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357) cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GABA receptor binding (GO:0050811)|receptor binding (GO:0005102) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23.0 TTTTAGCCTATACTGTGGTAG 0.448 0 126.0 115.0 119.0 2 202272251.0 2203.0 4300.0 6503.0 SO:0001583 missense AB038951 CCDS2347.1 2q33.1 2012-03-05 2005-12-13 2005-12-13 ENSG00000115993 ENSG00000115993 66008.0 66008.0 13206.0 protein-coding gene gene with protein product """gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98""" 607334 """amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3""" ALS2CR3 11161814, 16380713, 20230862 Standard NM_015049 NM_015049 Approved CALS-C, KIAA0549, GRIF-1, OIP98, MILT2 uc002uyb.4 O60296 OTTHUMG00000132822 ENST00000332624.3:c.161A>T 2.__UNKNOWN__:g.202272251T>A ENSP00000328875:p.Tyr54Phe E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6 __UNKNOWN__ CCDS2347.1 . . . . . . . . . . T 25.6 4.650299 0.87958 . . ENSG00000115993 ENST00000332624;ENST00000430254 T;T 0.18502 2.21;2.21 4.8 4.8 0.61643 . 0.275870 0.25929 N 0.027394 T 0.38026 0.1025 L 0.57536 1.79 0.80722 D 1 D;D 0.69078 0.997;0.997 D;D 0.77004 0.983;0.989 T 0.18147 -1.0346 10 0.87932 D 0 . 14.4984 0.67704 0.0:0.0:0.0:1.0 . 54;54 E7EV21;O60296 .;TRAK2_HUMAN F 54 ENSP00000328875:Y54F;ENSP00000409333:Y54F ENSP00000328875:Y54F Y - 2 0 TRAK2 201980496 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 4.147000 0.58078 2.004000 0.58718 0.460000 0.39030 TAT TRAK2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256284.3 - ENST00000332624.3 Missense_Mutation SNP PCPG-TCGA-WB-A816-Normal-SM-5EMMS OXA1L 5018 broad.mit.edu 37 14 23235834 23235834 + Missense_Mutation SNP G G A TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr14:23235834G>A ENST00000285848.5 + 1.0 104 c.104G>A c.(103-105)cGc>cAc p.R35H NM_005015.3 NP_005006.3 Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 0.0 aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262) integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234) mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19.0 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) CTTCATGCCCGCCTCCAAAAG 0.522 0 107.0 117.0 114.0 14 23235834.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS9573.1 14q11.2 2009-05-26 ENSG00000155463 ENSG00000155463 5018.0 5018.0 8526.0 protein-coding gene gene with protein product 601066 8586451, 19349278 Standard NM_005015 NM_005015 Approved MGC133129, OXA1 uc001wgn.2 Q15070 OTTHUMG00000028691 ENST00000285848.5:c.104G>A 14.__UNKNOWN__:g.23235834G>A ENSP00000285848:p.Arg35His B4DPA2 __UNKNOWN__ CCDS9573.1 . . . . . . . . . . G 13.17 2.156987 0.38119 . . ENSG00000155463 ENST00000285848 T 0.32023 1.47 5.32 -4.41 0.03590 . 1.138140 0.06846 N 0.796654 T 0.14960 0.0361 N 0.08118 0 0.37434 D 0.914168 B 0.02656 0.0 B 0.04013 0.001 T 0.05099 -1.0906 10 0.87932 D 0 -0.0736 8.1573 0.31176 0.3456:0.1428:0.5116:0.0 . 35 Q2M1J6 . H 35 ENSP00000285848:R35H ENSP00000285848:R35H R + 2 0 OXA1L 22305674 0.001000 0.12720 0.358000 0.25811 0.169000 0.22640 -0.658000 0.05329 -1.068000 0.03156 -0.302000 0.09304 CGC OXA1L-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000071630.2 + ENST00000285848.5 Missense_Mutation SNP PCPG-TCGA-WB-A816-Normal-SM-5EMMS MYO1H 283446 broad.mit.edu 37 12 109844593 109844593 + Splice_Site SNP G G A TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr12:109844593G>A ENST00000310903.5 + 9.0 1021 c.e9-1 MYO1H_ENST00000431443.2_Splice_Site|MYO1H_ENST00000542883.1_Splice_Site Q8N1T3 MYO1H_HUMAN myosin IH myosin complex (GO:0016459) ATP binding (GO:0005524)|motor activity (GO:0003774) 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) 47.0 TTTACATGCAGCTCCTGGGGG 0.433 0 103.0 89.0 93.0 12 109844593.0 1859.0 4104.0 5963.0 SO:0001630 splice_region_variant CCDS53826.1 12q24.11 2011-09-27 ENSG00000174527 ENSG00000174527 283446.0 283446.0 """Myosins / Myosin superfamily : Class I""" 13879.0 protein-coding gene gene with protein product 614636 Standard NM_173597 NM_001101421 Approved FLJ37587 uc010sxn.1 Q8N1T3 OTTHUMG00000169252 ENST00000310903.5:c.916-1G>A 12.__UNKNOWN__:g.109844593G>A F5H3C6 __UNKNOWN__ CCDS53826.1 . . . . . . . . . . G 18.05 3.538034 0.65085 . . ENSG00000174527 ENST00000310903;ENST00000431443 . . . 4.96 4.96 0.65561 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 17.229 0.86979 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . MYO1H 108328976 1.000000 0.71417 1.000000 0.80357 0.731000 0.41821 8.872000 0.92352 2.313000 0.78055 0.650000 0.86243 . MYO1H-001 PUTATIVE not_organism_supported|upstream_ATG|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403092.2 Intron + ENST00000310903.5 Splice_Site SNP PCPG-TCGA-WB-A816-Normal-SM-5EMMS SLC9A8 23315 broad.mit.edu 37 20 48491289 48491289 + Missense_Mutation SNP C C A TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr20:48491289C>A ENST00000361573.2 + 11.0 1048 c.1006C>A c.(1006-1008)Cac>Aac p.H336N SLC9A8_ENST00000539601.1_Missense_Mutation_p.H117N|SLC9A8_ENST00000417961.1_Missense_Mutation_p.H352N|SLC9A8_ENST00000541138.1_Missense_Mutation_p.H36N Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 336.0 ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30.0 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) CCACTACACGCACCATAACCT 0.557 0 310.0 216.0 247.0 20 48491289.0 2203.0 4300.0 6503.0 SO:0001583 missense AB023156 CCDS13421.1, CCDS58774.1 20q13.13 2013-05-22 2012-03-22 ENSG00000197818 ENSG00000197818 23315.0 23315.0 """Solute carriers""" 20728.0 protein-coding gene gene with protein product 612730 """solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8""" 12409279 Standard XM_030524 NM_001260491 Approved KIAA0939, NHE8 uc002xuv.2 Q9Y2E8 OTTHUMG00000032710 ENST00000361573.2:c.1006C>A 20.__UNKNOWN__:g.48491289C>A ENSP00000354966:p.His336Asn B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507 __UNKNOWN__ CCDS13421.1 . . . . . . . . . . C 32 5.132997 0.94517 . . ENSG00000197818 ENST00000417961;ENST00000361573;ENST00000541138;ENST00000539601 T;T;T;T 0.15017 2.46;2.46;2.46;2.46 5.64 5.64 0.86602 Cation/H+ exchanger (1); 0.046754 0.85682 D 0.000000 T 0.43678 0.1258 M 0.66378 2.025 0.80722 D 1 D;D 0.89917 1.0;0.998 D;D 0.77557 0.99;0.979 T 0.24905 -1.0147 10 0.72032 D 0.01 . 19.7013 0.96054 0.0:1.0:0.0:0.0 . 117;336 B4DIX7;Q9Y2E8 .;SL9A8_HUMAN N 352;336;36;117 ENSP00000416418:H352N;ENSP00000354966:H336N;ENSP00000441615:H36N;ENSP00000441716:H117N ENSP00000354966:H336N H + 1 0 SLC9A8 47924696 1.000000 0.71417 0.973000 0.42090 0.981000 0.71138 7.575000 0.82447 2.657000 0.90304 0.655000 0.94253 CAC SLC9A8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000106483.3 + ENST00000361573.2 Missense_Mutation SNP PCPG-TCGA-WB-A816-Normal-SM-5EMMS IRX6 79190 broad.mit.edu 37 16 55361281 55361281 + Missense_Mutation SNP C C T TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr16:55361281C>T ENST00000290552.7 + 3.0 1709 c.377C>T c.(376-378)cCc>cTc p.P126L RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 126.0 regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565) p.P126L(1) 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) 33.0 GCCTATTATCCCTATGAGCGG 0.512 1 Substitution - Missense(1) large_intestine(1) 74.0 73.0 73.0 16 55361281.0 2198.0 4300.0 6498.0 SO:0001583 missense AF319966 CCDS32449.1 16q12.2 2011-06-20 2007-07-13 2003-01-10 ENSG00000159387 79190.0 79190.0 """Homeoboxes / TALE class""" 14675.0 protein-coding gene gene with protein product 606196 """iroquois homeobox protein 7"", ""iroquois homeobox protein 6""" IRX7 Standard NM_024335 NM_024335 Approved IRX-3 uc002ehy.3 P78412 ENST00000290552.7:c.377C>T 16.__UNKNOWN__:g.55361281C>T ENSP00000290552:p.Pro126Leu B2RN06|Q7Z2K0 __UNKNOWN__ CCDS32449.1 . . . . . . . . . . C 25.9 4.681088 0.88542 . . ENSG00000159387 ENST00000290552 D 0.92348 -3.02 5.55 5.55 0.83447 . 0.292989 0.38436 N 0.001691 D 0.93776 0.8010 M 0.85945 2.785 0.80722 D 1 P;P 0.50066 0.563;0.931 B;B 0.44224 0.265;0.444 D 0.94567 0.7767 10 0.72032 D 0.01 -4.3068 19.3061 0.94163 0.0:1.0:0.0:0.0 . 126;25 P78412;Q9BZI2 IRX6_HUMAN;. L 126 ENSP00000290552:P126L ENSP00000290552:P126L P + 2 0 IRX6 53918782 0.998000 0.40836 0.932000 0.37286 0.958000 0.62258 7.148000 0.77389 2.894000 0.99253 0.655000 0.94253 CCC IRX6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000417445.4 + ENST00000290552.7 Missense_Mutation SNP PCPG-TCGA-WB-A816-Normal-SM-5EMMS YME1L1 10730 broad.mit.edu 37 10 27409416 27409416 + Silent SNP T T C TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr10:27409416T>C ENST00000376016.3 - 13.0 1540 c.1359A>G c.(1357-1359)aaA>aaG p.K453K YME1L1_ENST00000326799.3_Silent_p.K510K|YME1L1_ENST00000375972.3_Silent_p.K420K NM_014263.3 NP_055078.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 510.0 cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005) integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23.0 CTGTTCGACCTTTTACATCTG 0.313 0 T , 1,4405 2.1+/-5.4 0,1,2202 98.0 95.0 96.0 1359,1530 4.6 0.9 10 96.0 0,8600 0,0,4300 no coding-synonymous,coding-synonymous YME1L1 NM_014263.2,NM_139312.1 , 0,1,6502 CC,CT,TT 0.0,0.0227,0.0077 , 453/717,510/774 27409416.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AJ132637 CCDS7151.1, CCDS7152.1, CCDS58072.1 10p14 2013-06-10 2013-06-10 ENSG00000136758 ENSG00000136758 10730.0 10730.0 """ATPases / AAA-type""" 12843.0 protein-coding gene gene with protein product 607472 """YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)""" 22262461 Standard NM_139312 NM_139312 Approved uc001itj.3 Q96TA2 OTTHUMG00000017853 ENST00000376016.3:c.1359A>G 10.__UNKNOWN__:g.27409416T>C B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9 __UNKNOWN__ CCDS7151.1 YME1L1-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047305.1 - ENST00000376016.3 Silent SNP PCPG-TCGA-WB-A816-Normal-SM-5EMMS GPR135 64582 broad.mit.edu 37 14 59930963 59930963 + Missense_Mutation SNP G G A TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr14:59930963G>A ENST00000395116.1 - 1.0 1097 c.982C>T c.(982-984)Cgc>Tgc p.R328C NM_022571.5 NP_072093.2 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 328.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13.0 OV - Ovarian serous cystadenocarcinoma(108;0.134) GTGGCCGTGCGCACCTCGCTG 0.672 0 22.0 23.0 23.0 14 59930963.0 2195.0 4294.0 6489.0 SO:0001583 missense AY288418 CCDS9738.1 14q23.1 2012-08-21 ENSG00000181619 ENSG00000181619 64582.0 64582.0 """GPCR / Class A : Orphans""" 19991.0 protein-coding gene gene with protein product 607970 14623098 Standard NM_022571 NM_022571 Approved HUMNPIIY20, PAFR uc010apj.3 Q8IZ08 OTTHUMG00000140325 ENST00000395116.1:c.982C>T 14.__UNKNOWN__:g.59930963G>A ENSP00000378548:p.Arg328Cys Q7Z604|Q86SM3|Q8NH39 __UNKNOWN__ CCDS9738.1 . . . . . . . . . . g 19.75 3.885777 0.72410 . . ENSG00000181619 ENST00000395116 T 0.45276 0.9 4.31 3.39 0.38822 GPCR, rhodopsin-like superfamily (1); 0.000000 0.64402 U 0.000001 T 0.66436 0.2789 M 0.87328 2.875 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.71586 -0.4548 10 0.87932 D 0 -13.2337 11.4278 0.50020 0.0:0.0:0.6723:0.3277 . 328 Q8IZ08 GP135_HUMAN C 328 ENSP00000378548:R328C ENSP00000378548:R328C R - 1 0 GPR135 59000716 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 2.566000 0.45948 0.984000 0.38629 0.558000 0.71614 CGC GPR135-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276941.1 - ENST00000395116.1 Missense_Mutation SNP PCPG-TCGA-WB-A816-Normal-SM-5EMMS ST14 6768 broad.mit.edu 37 11 130068267 130068267 + Silent SNP C C T TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr11:130068267C>T ENST00000278742.5 + 13.0 1942 c.1524C>T c.(1522-1524)tgC>tgT p.C508C NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 508.0 LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}. keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508) basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32.0 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) TCTGGGTCTGCGACAGTGTGA 0.672 0 89.0 89.0 89.0 11 130068267.0 2201.0 4297.0 6498.0 SO:0001819 synonymous_variant AF118224 CCDS8487.1 11q24-q25 2011-08-31 2005-11-19 ENSG00000149418 ENSG00000149418 6768.0 6768.0 """Serine peptidases / Transmembrane""" 11344.0 protein-coding gene gene with protein product """epithin"", ""matriptase""" 606797 PRSS14 9925927, 10373424 Standard NM_021978 Approved SNC19, HAI, MT-SP1, TMPRSS14 uc001qfw.3 Q9Y5Y6 OTTHUMG00000165768 ENST00000278742.5:c.1524C>T 11.__UNKNOWN__:g.130068267C>T Q9BS01|Q9H3S0|Q9HB36|Q9HCA3 __UNKNOWN__ CCDS8487.1 ST14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000386119.1 + ENST00000278742.5 Silent SNP PCPG-TCGA-WB-A816-Normal-SM-5EMMS LRP8 7804 broad.mit.edu 37 1 53728167 53728167 + Silent SNP C C T TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr1:53728167C>T ENST00000465675.1 - 9.0 1229 c.384G>A c.(382-384)cgG>cgA p.R128R LRP8_ENST00000371454.2_Silent_p.R575R|LRP8_ENST00000306052.6_Silent_p.R575R|LRP8_ENST00000347547.2_Silent_p.R405R|LRP8_ENST00000354412.3_Silent_p.R446R|LRP8_ENST00000460214.1_5'UTR Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 575.0 LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}. ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165) caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229) endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21.0 CCAGTGTTTGCCGGTCCACAC 0.512 0 223.0 219.0 220.0 1 53728167.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D50678 CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1 1p32.3 2013-05-29 ENSG00000157193 ENSG00000157193 7804.0 7804.0 """Low density lipoprotein receptors""" 6700.0 protein-coding gene gene with protein product 602600 8626535, 9079678 Standard NM_004631 NM_004631 Approved APOER2, MCI1, LRP-8, HSZ75190 uc001cvi.2 Q14114 OTTHUMG00000008924 ENST00000465675.1:c.384G>A 1.__UNKNOWN__:g.53728167C>T B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78 __UNKNOWN__ LRP8-004 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000024702.2 - ENST00000465675.1 Silent SNP PCPG-TCGA-WB-A816-Normal-SM-5EMMS GDAP1 54332 broad.mit.edu 37 8 75263599 75263599 + Missense_Mutation SNP C C T TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr8:75263599C>T ENST00000220822.7 + 2.0 288 c.208C>T c.(208-210)Cgt>Tgt p.R70C GDAP1_ENST00000521096.1_Intron|GDAP1_ENST00000434412.2_Missense_Mutation_p.R2C NM_001040875.2|NM_018972.2 NP_001035808.1|NP_061845.2 Q8TB36 GDAP1_HUMAN ganglioside induced differentiation associated protein 1 70.0 GST N-terminal. cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526) integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634) p.R70C(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10.0 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) TTGGTTTATGCGTTTGAACTC 0.453 1 Substitution - Missense(1) kidney(1) 343.0 291.0 309.0 8 75263599.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS34911.1, CCDS47877.1 8q13.3 2014-09-17 2012-02-09 54332.0 54332.0 15968.0 protein-coding gene gene with protein product 606598 """Charcot-Marie-Tooth neuropathy 4A""" CMT4A 8268915, 11743579 Standard NM_018972 NM_018972 Approved CMT4 uc003yah.3 Q8TB36 ENST00000220822.7:c.208C>T 8.__UNKNOWN__:g.75263599C>T ENSP00000220822:p.Arg70Cys A8K957|E7FJF3|E7FJF4 __UNKNOWN__ CCDS34911.1 . . . . . . . . . . C 23.4 4.407363 0.83230 . . ENSG00000104381 ENST00000220822;ENST00000434412 T;T 0.48201 1.66;0.82 5.17 5.17 0.71159 Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2); 0.119635 0.64402 D 0.000015 T 0.77811 0.4186 M 0.93420 3.415 0.58432 D 0.999999 D 0.89917 1.0 D 0.85130 0.997 D 0.83650 0.0155 10 0.72032 D 0.01 -26.7646 18.8518 0.92235 0.0:1.0:0.0:0.0 . 70 Q8TB36 GDAP1_HUMAN C 70;2 ENSP00000220822:R70C;ENSP00000417006:R2C ENSP00000220822:R70C R + 1 0 GDAP1 75426154 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 3.570000 0.53834 2.678000 0.91216 0.655000 0.94253 CGT GDAP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000379061.1 + ENST00000220822.7 Missense_Mutation SNP PCPG-TCGA-WB-A816-Normal-SM-5EMMS ZNF182 7569 broad.mit.edu 37 X 47836774 47836774 + Missense_Mutation SNP C C T TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chrX:47836774C>T ENST00000396965.1 - 7.0 1062 c.712G>A c.(712-714)Gca>Aca p.A238T ZNF182_ENST00000376943.3_Missense_Mutation_p.A219T|ZNF182_ENST00000305127.6_Missense_Mutation_p.A238T NM_001178099.1 NP_001171570.1 P17025 ZN182_HUMAN zinc finger protein 182 238.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22.0 TTCCTACATGCAGTACATTCA 0.418 0 79.0 76.0 77.0 X 47836774.0 2203.0 4300.0 6503.0 SO:0001583 missense AK122874, R98366 CCDS35235.1, CCDS35236.1 Xp11.23 2013-01-08 2006-05-10 2006-05-10 ENSG00000147118 ENSG00000147118 7569.0 7569.0 """Zinc fingers, C2H2-type"", ""-""" 13001.0 protein-coding gene gene with protein product 314993 """zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)""" ZNF21 8088786, 2014798, 8914609 Standard NM_006962 NM_001178099 Approved KOX14, HHZ150, Zfp182 uc004dit.3 P17025 OTTHUMG00000021460 ENST00000396965.1:c.712G>A X.__UNKNOWN__:g.47836774C>T ENSP00000380165:p.Ala238Thr A2IDD7|Q3KP67|Q96QH7 __UNKNOWN__ CCDS35236.1 . . . . . . . . . . C 12.69 2.012158 0.35511 . . ENSG00000147118 ENST00000376943;ENST00000396965;ENST00000305127 T;T;T 0.07567 3.18;3.18;3.18 4.25 4.25 0.50352 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.07999 0.0200 N 0.01493 -0.835 0.25859 N 0.98384 P;P;B 0.47106 0.869;0.89;0.062 P;P;B 0.56343 0.796;0.707;0.113 T 0.44251 -0.9340 9 0.72032 D 0.01 . 13.3752 0.60734 0.0:1.0:0.0:0.0 . 218;219;238 B4DRM0;Q96QH7;P17025 .;.;ZN182_HUMAN T 219;238;238 ENSP00000366142:A219T;ENSP00000380165:A238T;ENSP00000306351:A238T ENSP00000306351:A238T A - 1 0 ZNF182 47721718 0.000000 0.05858 1.000000 0.80357 0.998000 0.95712 0.043000 0.13971 2.110000 0.64415 0.594000 0.82650 GCA ZNF182-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000277055.1 - ENST00000396965.1 Missense_Mutation SNP PCPG-TCGA-WB-A816-Normal-SM-5EMMS SHISA4 149345 broad.mit.edu 37 1 201860531 201860531 + Missense_Mutation SNP C C G TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr1:201860531C>G ENST00000362011.6 + 4.0 669 c.382C>G c.(382-384)Cag>Gag p.Q128E SHISA4_ENST00000464117.1_3'UTR NM_198149.2 NP_937792.2 Q96DD7 SHSA4_HUMAN shisa family member 4 128.0 integral component of membrane (GO:0016021) kidney(1)|lung(4) 5.0 CCATCTAGGCCAGGAGATTCC 0.592 0 106.0 105.0 105.0 1 201860531.0 2203.0 4300.0 6503.0 SO:0001583 missense AY358589 CCDS1416.1 1q32.1 2013-07-31 2013-07-31 2008-04-01 ENSG00000198892 ENSG00000198892 149345.0 149345.0 """Shisa homologs""" 27139.0 protein-coding gene gene with protein product """chromosome 1 open reading frame 40"", ""transmembrane protein 58"", ""shisa homolog 4 (Xenopus laevis)""" C1orf40, TMEM58 12975309 Standard NM_198149 NR_030775 Approved hShisa4 uc001gxa.3 Q96DD7 OTTHUMG00000035807 ENST00000362011.6:c.382C>G 1.__UNKNOWN__:g.201860531C>G ENSP00000355064:p.Gln128Glu B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7 __UNKNOWN__ CCDS1416.1 . . . . . . . . . . C 16.88 3.244594 0.59103 . . ENSG00000198892 ENST00000362011 T 0.42900 0.96 5.17 5.17 0.71159 . 0.131328 0.52532 D 0.000079 T 0.54759 0.1878 M 0.62723 1.935 0.58432 D 0.999992 D 0.53312 0.959 D 0.64687 0.928 T 0.50750 -0.8791 10 0.07175 T 0.84 0.0073 14.1503 0.65378 0.0:1.0:0.0:0.0 . 128 Q96DD7 SHSA4_HUMAN E 128 ENSP00000355064:Q128E ENSP00000355064:Q128E Q + 1 0 SHISA4 200127154 1.000000 0.71417 1.000000 0.80357 0.953000 0.61014 2.940000 0.49003 2.406000 0.81754 0.561000 0.74099 CAG SHISA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087096.1 + ENST00000362011.6 Missense_Mutation SNP PCPG-TCGA-WB-A816-Normal-SM-5EMMS SORBS1 10580 broad.mit.edu 37 10 97141496 97141496 + Missense_Mutation SNP C C A TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr10:97141496C>A ENST00000361941.3 - 16.0 1625 c.1599G>T c.(1597-1599)aaG>aaT p.K533N SORBS1_ENST00000371241.1_Missense_Mutation_p.K323N|SORBS1_ENST00000347291.4_Missense_Mutation_p.K401N|SORBS1_ENST00000607232.1_Missense_Mutation_p.K322N|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371249.2_Missense_Mutation_p.K455N|SORBS1_ENST00000371227.4_Missense_Mutation_p.K487N|SORBS1_ENST00000393949.1_Missense_Mutation_p.K503N|SORBS1_ENST00000371239.1_Missense_Mutation_p.K332N|SORBS1_ENST00000353505.5_Missense_Mutation_p.K418N|SORBS1_ENST00000277982.5_Missense_Mutation_p.K555N|SORBS1_ENST00000371247.2_Missense_Mutation_p.K533N|SORBS1_ENST00000371245.3_Missense_Mutation_p.K418N|SORBS1_ENST00000306402.6_Missense_Mutation_p.K364N|SORBS1_ENST00000371246.2_Missense_Mutation_p.K555N|SORBS1_ENST00000354106.3_Missense_Mutation_p.K503N NM_001034954.1 NP_001030126 sorbin and SH3 domain containing 1 NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42.0 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) CGTAAATGCTCTTGGGCTCTG 0.398 0 220.0 211.0 214.0 10 97141496.0 2203.0 4300.0 6503.0 SO:0001583 missense AF136381 CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1 10q23.33 2011-07-25 2002-05-08 ENSG00000095637 ENSG00000095637 10580.0 10580.0 14565.0 protein-coding gene gene with protein product """c-Cbl-associated protein""" 605264 """SH3-domain protein 5 (ponsin)""" SH3D5 10085297, 11001060 Standard XM_005269405 Approved FLJ12406, CAP, sh3p12, ponsin, KIAA1296 uc001kkp.3 Q9BX66 OTTHUMG00000018812 ENST00000361941.3:c.1599G>T 10.__UNKNOWN__:g.97141496C>A ENSP00000355136:p.Lys533Asn __UNKNOWN__ CCDS31255.1 . . . . . . . . . . T 16.70 3.195752 0.58126 . . ENSG00000095637 ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239 T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.52754 0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65 5.98 4.86 0.63082 . 0.159634 0.29699 N 0.011431 T 0.52041 0.1710 L 0.34521 1.04 0.43230 D 0.995122 D;D;D;P;P;B;D;D;D;D;D;P;P 0.76494 0.999;0.993;0.992;0.941;0.889;0.403;0.987;0.986;0.986;0.996;0.974;0.954;0.611 P;P;P;P;P;P;P;D;P;D;P;P;B 0.63283 0.864;0.866;0.882;0.811;0.705;0.557;0.888;0.913;0.765;0.912;0.839;0.81;0.103 T 0.46762 -0.9168 10 0.45353 T 0.12 -7.8724 9.3148 0.37928 0.0:0.2169:0.0:0.7831 . 685;332;487;455;364;323;332;418;533;555;401;503;111 B7Z9B7;B4DTX5;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5;Q6MZY5 .;.;.;.;.;.;.;.;SRBS1_HUMAN;.;.;.;. N 418;364;455;533;487;555;503;418;401;533;555;323;503;332 ENSP00000360291:K418N;ENSP00000302556:K364N;ENSP00000360295:K455N;ENSP00000360293:K533N;ENSP00000360271:K487N;ENSP00000360292:K555N;ENSP00000377521:K503N;ENSP00000343998:K418N;ENSP00000277985:K401N;ENSP00000355136:K533N;ENSP00000277982:K555N;ENSP00000360285:K323N;ENSP00000277984:K503N;ENSP00000360283:K332N ENSP00000277982:K555N K - 3 2 SORBS1 97131486 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 1.928000 0.40104 0.529000 0.28599 -0.332000 0.08345 AAG SORBS1-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000049517.1 - ENST00000361941.3 Missense_Mutation SNP PCPG-TCGA-WB-A816-Normal-SM-5EMMS CDC73 79577 broad.mit.edu 37 1 193219826 193219826 + Nonsense_Mutation SNP C C A TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr1:193219826C>A ENST00000367435.3 + 17.0 1764 c.1580C>A c.(1579-1581)tCg>tAg p.S527* CDC73_ENST00000477868.1_3'UTR NM_024529.4 NP_078805.3 Q6P1J9 CDC73_HUMAN cell division cycle 73 527.0 Interaction with POLR2A and PAF1. cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634) RNA polymerase II core binding (GO:0000993) 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) 87.0 AAGCATAAATCGCACTTGAGA 0.294 0 69.0 70.0 70.0 1 193219826.0 2201.0 4297.0 6498.0 SO:0001587 stop_gained AF312865 CCDS1382.1 1q25 2014-09-17 2013-01-17 2005-07-20 ENSG00000134371 ENSG00000134371 79577.0 79577.0 16783.0 protein-coding gene gene with protein product """Paf1/RNA polymerase II complex component""" 607393 """chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1""" C1orf28, HRPT2, HRPT1 11318611, 15632063, 18755853 Standard NM_024529 NM_024529 Approved parafibromin, FIHP uc001gtb.3 Q6P1J9 OTTHUMG00000035676 ENST00000367435.3:c.1580C>A 1.__UNKNOWN__:g.193219826C>A ENSP00000356405:p.Ser527* A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7 __UNKNOWN__ CCDS1382.1 . . . . . . . . . . C 37 6.288108 0.97444 . . ENSG00000134371 ENST00000367435 . . . 6.01 6.01 0.97437 . 0.058313 0.64402 D 0.000001 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.10902 T 0.67 -12.8098 20.5211 0.99222 0.0:1.0:0.0:0.0 . . . . X 527 . ENSP00000356405:S527X S + 2 0 CDC73 191486449 1.000000 0.71417 1.000000 0.80357 0.926000 0.56050 6.958000 0.76025 2.861000 0.98227 0.650000 0.86243 TCG CDC73-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086696.2 + ENST00000367435.3 Nonsense_Mutation SNP PCPG-TCGA-WB-A816-Normal-SM-5EMMS KIF6 221458 bcgsc.ca 37 6 39602626 39602626 + Missense_Mutation SNP G G A TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr6:39602626G>A ENST00000287152.7 - 5.0 602 c.508C>T c.(508-510)Ccg>Tcg p.P170S KIF6_ENST00000373216.3_Splice_Site_p.P170S|KIF6_ENST00000373215.3_Splice_Site_p.P170S|KIF6_ENST00000538893.1_Splice_Site_p.P170S NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 170.0 Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}. ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52.0 GCTACTCACGGCAAATCTTCC 0.343 0 119.0 117.0 118.0 6 39602626.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AL832634 CCDS4844.1, CCDS75449.1 6p21.2 2010-03-30 ENSG00000164627 ENSG00000164627 221458.0 221458.0 """Kinesins""" 21202.0 protein-coding gene gene with protein product 613919 """chromosome 6 open reading frame 102""" C6orf102 Standard NM_145027 NM_145027 Approved dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418 uc003oot.2 Q6ZMV9 OTTHUMG00000014648 ENST00000287152.7:c.509+1C>T 6.__UNKNOWN__:g.39602626G>A Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4 __UNKNOWN__ CCDS4844.1 . . . . . . . . . . G 23.3 4.399496 0.83120 . . ENSG00000164627 ENST00000287152;ENST00000373216;ENST00000373215;ENST00000538893 T;T;T;T 0.72394 -0.65;-0.65;-0.65;-0.65 5.28 5.28 0.74379 Kinesin, motor domain (4); . . . . T 0.78097 0.4230 L 0.61036 1.89 0.80722 D 1 D;P;D 0.89917 1.0;0.843;1.0 D;P;D 0.97110 1.0;0.544;1.0 T 0.76141 -0.3068 9 0.36615 T 0.2 . 16.6993 0.85344 0.0:0.0:1.0:0.0 . 170;170;170 E7EUN7;F6VGH2;Q6ZMV9 .;.;KIF6_HUMAN S 170 ENSP00000287152:P170S;ENSP00000362312:P170S;ENSP00000362311:P170S;ENSP00000441435:P170S ENSP00000287152:P170S P - 1 0 KIF6 39710604 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 7.129000 0.77225 2.467000 0.83353 0.557000 0.71058 CCG KIF6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000040455.2 Missense_Mutation - ENST00000287152.7 Splice_Site SNP PCPG-TCGA-WB-A816-Normal-SM-5EMMS COL2A1 1280 ucsc.edu 37 12 48378833 48378833 + Missense_Mutation SNP T T C TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr12:48378833T>C ENST00000380518.3 - 27.0 1942 c.1778A>G c.(1777-1779)cAg>cGg p.Q593R COL2A1_ENST00000337299.6_Missense_Mutation_p.Q524R|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 593.0 Triple-helical region. axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601) basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615) extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64.0 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) ACGAGCCCCCTGAGGACCTGG 0.542 0 47.0 43.0 44.0 12 48378833.0 2202.0 4300.0 6502.0 SO:0001583 missense X16468 CCDS8759.1, CCDS41778.1 12q12-q13.2 2013-11-14 2008-02-04 ENSG00000139219 ENSG00000139219 1280.0 1280.0 """Collagens""" 2200.0 protein-coding gene gene with protein product 120140 """collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)""" SEDC, AOM 1677770 Standard NM_001844 NM_033150 Approved STL1 uc001rqu.3 P02458 OTTHUMG00000149896 ENST00000380518.3:c.1778A>G 12.__UNKNOWN__:g.48378833T>C ENSP00000369889:p.Gln593Arg A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43 __UNKNOWN__ CCDS41778.1 . . . . . . . . . . T 14.35 2.508813 0.44660 . . ENSG00000139219 ENST00000380518;ENST00000395281;ENST00000337299 D;D 0.89343 -2.5;-2.5 5.01 5.01 0.66863 . 0.070231 0.56097 D 0.000022 D 0.89880 0.6843 N 0.25789 0.76 0.47994 D 0.999563 P;P 0.51537 0.946;0.66 D;P 0.69479 0.964;0.884 D 0.89790 0.3967 10 0.42905 T 0.14 . 13.8472 0.63474 0.0:0.0:0.0:1.0 . 524;593 P02458-1;P02458 .;CO2A1_HUMAN R 593;524;524 ENSP00000369889:Q593R;ENSP00000338213:Q524R ENSP00000338213:Q524R Q - 2 0 COL2A1 46665100 0.941000 0.31946 1.000000 0.80357 0.996000 0.88848 1.212000 0.32394 2.107000 0.64212 0.533000 0.62120 CAG COL2A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313810.2 - ENST00000380518.3 Missense_Mutation SNP PCPG-TCGA-WB-A816-Normal-SM-5EMMS CHRNE 1145 hgsc.bcm.edu 37 17 4802804 4802804 + Silent SNP G G T rs121909515 TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr17:4802804G>T ENST00000293780.4 - 9.0 1001 c.991C>A c.(991-993)Cgg>Agg p.R331R C17orf107_ENST00000521575.1_5'UTR NM_000080.3 NP_000071.1 Q04844 ACHE_HUMAN cholinergic receptor, nicotinic, epsilon (muscle) 331.0 R -> W (in CMS-ACHRD; shortens burst duration 2-fold by slowing the rate of channel opening and speeding the rate of ACh dissociation; has a mild fast-channel kinetic effect on the AChR by shortening the long burst and increasing the decay of the endplate current). {ECO:0000269|PubMed:9158150}. cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810) acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324) central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1) 12.0 Galantamine(DB00674) GTGGGCGTCCGCTGGGACACG 0.637 0 GRCh37 CM970309 CHRNE M rs121909515 43.0 31.0 35.0 17 4802804.0 2202.0 4297.0 6499.0 SO:0001819 synonymous_variant X66403 CCDS11058.1 17p13.2 2012-02-11 2012-02-07 ENSG00000108556 ENSG00000108556 1145.0 1145.0 """Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic""" 1966.0 protein-coding gene gene with protein product """acetylcholine receptor, nicotinic, epsilon (muscle)""" 100725 """cholinergic receptor, nicotinic, epsilon""" 7688301 Standard NM_000080 Approved ACHRE uc002fzk.1 Q04844 OTTHUMG00000090778 ENST00000293780.4:c.991C>A 17.__UNKNOWN__:g.4802804G>T D3DTK6 __UNKNOWN__ CCDS11058.1 CHRNE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207560.3 - ENST00000293780.4 Silent SNP PCPG-TCGA-WB-A816-Normal-SM-5EMMS NISCH 11188 hgsc.bcm.edu 37 3 52526194 52526194 + Frame_Shift_Del DEL G G - rs3180422 TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr3:52526194delG ENST00000479054.1 + 22.0 4283 c.4211delG c.(4210-4212)aggfs p.R1404fs NISCH_ENST00000345716.4_Frame_Shift_Del_p.R1404fs Q9Y2I1 NISCH_HUMAN nischarin 1404.0 actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228) cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886) G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091) NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33.0 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) Tizanidine(DB00697) CAGAGAGACAGGTACCGGCTG 0.632 0 53.0 61.0 58.0 3 52526194.0 2192.0 4265.0 6457.0 SO:0001589 frameshift_variant AF082516 CCDS33767.1, CCDS63651.1, CCDS63652.1 3p21.1 2008-07-18 ENSG00000010322 ENSG00000010322 11188.0 11188.0 18006.0 protein-coding gene gene with protein product """imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected""" 615507 11912194, 10882231 Standard NM_007184 NM_007184 Approved KIAA0975, I-1, IRAS uc003ded.4 Q9Y2I1 OTTHUMG00000158571 ENST00000479054.1:c.4211delG 3.__UNKNOWN__:g.52526194delG ENSP00000418232:p.Arg1404fs C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3 __UNKNOWN__ CCDS33767.1 NISCH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351357.1 + ENST00000479054.1 Frame_Shift_Del DEL PCPG-TCGA-WB-A816-Normal-SM-5EMMS PARD3B 117583 broad.mit.edu 37 2 205829978 205829978 + Missense_Mutation SNP C C T TCGA-WB-A817-01A-11D-A35I-08 TCGA-WB-A817-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f838433f-27eb-4de5-b188-19bec45b6297 c8459b8e-10f3-4a0d-8988-47ea061d3d49 g.chr2:205829978C>T ENST00000351153.1 + 3.0 326 c.326C>T c.(325-327)gCc>gTc p.A109V PARD3B_ENST00000462231.1_Missense_Mutation_p.A109V|PARD3B_ENST00000358768.2_Missense_Mutation_p.A109V|PARD3B_ENST00000349953.3_Missense_Mutation_p.A109V|PARD3B_ENST00000406610.2_Missense_Mutation_p.A109V Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 109.0 cell cycle (GO:0007049)|cell division (GO:0051301) membrane (GO:0016020)|tight junction (GO:0005923) breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65.0 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) ACAGAAGTGGCCGCCCAACTG 0.468 0 76.0 79.0 78.0 2 205829978.0 1847.0 4089.0 5936.0 SO:0001583 missense AB053321 CCDS42804.1, CCDS42805.1, CCDS42806.1 2q33.3 2013-08-28 2013-08-28 2006-09-28 ENSG00000116117 ENSG00000116117 117583.0 117583.0 14446.0 protein-coding gene gene with protein product """amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)""" ALS2CR19 11586298, 12459187 Standard NM_057177 NM_057177 Approved Par3L, PAR3beta uc002vap.2 Q8TEW8 OTTHUMG00000154562 ENST00000351153.1:c.326C>T 2.__UNKNOWN__:g.205829978C>T ENSP00000317261:p.Ala109Val E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29 __UNKNOWN__ CCDS42805.1 . . . . . . . . . . C 23.3 4.397412 0.83120 . . ENSG00000116117 ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953 T;T;T;T 0.44881 0.91;0.91;0.91;0.91 5.8 5.8 0.92144 . 0.065695 0.64402 D 0.000015 T 0.59321 0.2185 L 0.39898 1.24 0.36538 D 0.871124 D;D;P;D;D 0.89917 0.999;1.0;0.87;0.983;0.991 D;D;P;P;P 0.83275 0.996;0.996;0.681;0.857;0.857 T 0.63373 -0.6652 10 0.59425 D 0.04 . 20.0522 0.97631 0.0:1.0:0.0:0.0 . 109;109;109;109;109 Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5 .;PAR3L_HUMAN;.;.;. V 109 ENSP00000385848:A109V;ENSP00000351618:A109V;ENSP00000317261:A109V;ENSP00000340280:A109V ENSP00000340280:A109V A + 2 0 PARD3B 205538223 1.000000 0.71417 1.000000 0.80357 0.436000 0.31835 5.359000 0.66074 2.737000 0.93849 0.563000 0.77884 GCC PARD3B-003 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000335994.1 + ENST00000351153.1 Missense_Mutation SNP PCPG-TCGA-WB-A817-Normal-SM-5EMNE MGA 23269 broad.mit.edu 37 15 42035001 42035001 + Missense_Mutation SNP A A G TCGA-WB-A817-01A-11D-A35I-08 TCGA-WB-A817-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f838433f-27eb-4de5-b188-19bec45b6297 c8459b8e-10f3-4a0d-8988-47ea061d3d49 g.chr15:42035001A>G ENST00000570161.1 + 14.0 4843 c.4843A>G c.(4843-4845)Atg>Gtg p.M1615V MGA_ENST00000545763.1_Intron|MGA_ENST00000219905.7_Missense_Mutation_p.M1615V|MGA_ENST00000566586.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.M1615V O43451 MGA_HUMAN MGA, MAX dimerization protein 0.0 Glucoamylase. carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450) 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) 95.0 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) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGTGACACCTATGACTGCTAT 0.463 0 90.0 87.0 88.0 15 42035001.0 1901.0 4128.0 6029.0 SO:0001583 missense AB011090 CCDS55959.1, CCDS55960.1 15q15 2012-11-15 2012-11-15 ENSG00000174197 ENSG00000174197 23269.0 23269.0 """MAX dimerization proteins"", ""T-boxes""" 14010.0 protein-coding gene gene with protein product """MAX gene associated""" Standard NM_001164273.1 NM_001080541 Approved KIAA0518, MAD5, MXD5, FLJ12634 uc010ucy.2 Q8IWI9 ENST00000570161.1:c.4843A>G 15.__UNKNOWN__:g.42035001A>G ENSP00000457035:p.Met1615Val Q0VAX6|Q75ME7|Q86UM5 __UNKNOWN__ CCDS55959.1 . . . . . . . . . . A 0.063 -1.220418 0.01530 . . ENSG00000174197 ENST00000219905;ENST00000389936 D;D 0.82711 -1.62;-1.64 4.96 -0.125 0.13519 . 1.732920 0.03004 N 0.148557 T 0.63498 0.2516 N 0.08118 0 0.80722 D 1 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.58216 -0.7675 10 0.19147 T 0.46 . 1.4246 0.02320 0.4018:0.1509:0.3088:0.1385 . 231;1615 B4DVS1;E7ENI0 .;. V 1615 ENSP00000219905:M1615V;ENSP00000374586:M1615V ENSP00000219905:M1615V M + 1 0 MGA 39822293 1.000000 0.71417 0.997000 0.53966 0.997000 0.91878 0.778000 0.26732 0.058000 0.16222 0.460000 0.39030 ATG MGA-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000420229.1 + ENST00000570161.1 Missense_Mutation SNP PCPG-TCGA-WB-A817-Normal-SM-5EMNE HMCN1 83872 broad.mit.edu 37 1 186008083 186008083 + Missense_Mutation SNP G G A TCGA-WB-A817-01A-11D-A35I-08 TCGA-WB-A817-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f838433f-27eb-4de5-b188-19bec45b6297 c8459b8e-10f3-4a0d-8988-47ea061d3d49 g.chr1:186008083G>A ENST00000271588.4 + 38.0 6203 c.5974G>A c.(5974-5976)Gtg>Atg p.V1992M HMCN1_ENST00000367492.2_Missense_Mutation_p.V1992M NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1992.0 Ig-like C2-type 17. response to stimulus (GO:0050896)|visual perception (GO:0007601) basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509) 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) 308.0 ATATAAATGCGTGGCCATCAA 0.438 0 109.0 101.0 104.0 1 186008083.0 2203.0 4300.0 6503.0 SO:0001583 missense AF156100 CCDS30956.1 1q25.3-q31.1 2013-01-11 ENSG00000143341 ENSG00000143341 83872.0 83872.0 """Fibulins"", ""Immunoglobulin superfamily / I-set domain containing""" 19194.0 protein-coding gene gene with protein product """fibulin 6""" 608548 """age-related macular degeneration 1 (senile macular degeneration)""" ARMD1 11222143 Standard NM_031935 NM_031935 Approved FBLN6, FIBL6, FIBL-6 uc001grq.1 Q96RW7 OTTHUMG00000059337 ENST00000271588.4:c.5974G>A 1.__UNKNOWN__:g.186008083G>A ENSP00000271588:p.Val1992Met A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3 __UNKNOWN__ CCDS30956.1 . . . . . . . . . . G 12.93 2.084412 0.36758 . . ENSG00000143341 ENST00000271588;ENST00000367492 T;T 0.68765 -0.35;-0.35 5.85 2.96 0.34315 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.126219 0.52532 N 0.000064 T 0.62514 0.2434 M 0.70842 2.15 0.49687 D 0.999814 B 0.31611 0.331 B 0.29524 0.103 T 0.61978 -0.6951 10 0.42905 T 0.14 . 11.4211 0.49982 0.2008:0.0:0.7992:0.0 . 1992 Q96RW7 HMCN1_HUMAN M 1992 ENSP00000271588:V1992M;ENSP00000356462:V1992M ENSP00000271588:V1992M V + 1 0 HMCN1 184274706 1.000000 0.71417 0.999000 0.59377 0.536000 0.34869 2.296000 0.43584 0.831000 0.34780 -0.136000 0.14681 GTG HMCN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000131848.1 + ENST00000271588.4 Missense_Mutation SNP PCPG-TCGA-WB-A817-Normal-SM-5EMNE DNER 92737 broad.mit.edu 37 2 230272009 230272009 + Silent SNP G G A TCGA-WB-A817-01A-11D-A35I-08 TCGA-WB-A817-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f838433f-27eb-4de5-b188-19bec45b6297 c8459b8e-10f3-4a0d-8988-47ea061d3d49 g.chr2:230272009G>A ENST00000341772.4 - 10.0 1796 c.1662C>T c.(1660-1662)aaC>aaT p.N554N NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 554.0 EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Follistatin-like. central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416) dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888) 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) 63.0 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) AGGTGGCTCCGTTCAGACAGC 0.517 0 137.0 120.0 126.0 2 230272009.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AY358891 CCDS33390.1 2q36.3 2006-10-26 ENSG00000187957 ENSG00000187957 92737.0 92737.0 24456.0 protein-coding gene gene with protein product 607299 11950833, 11997712 Standard NM_139072 NM_139072 Approved UNQ26, bet uc002vpv.3 Q8NFT8 OTTHUMG00000153637 ENST00000341772.4:c.1662C>T 2.__UNKNOWN__:g.230272009G>A A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2 __UNKNOWN__ CCDS33390.1 DNER-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000331902.1 - ENST00000341772.4 Silent SNP PCPG-TCGA-WB-A817-Normal-SM-5EMNE CD300C 10871 broad.mit.edu 37 17 72539104 72539104 + Missense_Mutation SNP G G T TCGA-WB-A817-01A-11D-A35I-08 TCGA-WB-A817-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f838433f-27eb-4de5-b188-19bec45b6297 c8459b8e-10f3-4a0d-8988-47ea061d3d49 g.chr17:72539104G>T ENST00000330793.1 - 3.0 783 c.423C>A c.(421-423)agC>agA p.S141R NM_006678.3 NP_006669.1 Q08708 CLM6_HUMAN CD300c molecule 141.0 Pro-rich. cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887) transmembrane signaling receptor activity (GO:0004888) endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1) 21.0 AGCTCTGGGGGCTGGAGGCTG 0.607 Esophageal Squamous(66;421 1121 20537 25337 27468) 0 115.0 100.0 105.0 17 72539104.0 2203.0 4300.0 6503.0 SO:0001583 missense BC022279 CCDS11701.1 17q25.2 2014-05-15 2006-03-28 ENSG00000167850 ENSG00000167850 10871.0 10871.0 """CD molecules"", ""Immunoglobulin superfamily / V-set domain containing""" 19320.0 protein-coding gene gene with protein product 606786 """CD300c antigen""" 1349532, 10746781 Standard NM_006678 NM_006678 Approved CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16 uc002jky.2 Q08708 OTTHUMG00000067608 ENST00000330793.1:c.423C>A 17.__UNKNOWN__:g.72539104G>T ENSP00000329507:p.Ser141Arg __UNKNOWN__ CCDS11701.1 . . . . . . . . . . G 3.458 -0.110515 0.06924 . . ENSG00000167850 ENST00000330793 T 0.03607 3.87 3.23 0.0747 0.14396 . 1.890310 0.02996 N 0.147527 T 0.03053 0.0090 N 0.19112 0.55 0.09310 N 1 B 0.30741 0.293 B 0.27076 0.076 T 0.41124 -0.9526 10 0.36615 T 0.2 . 5.3769 0.16170 0.3979:0.0:0.6021:0.0 . 141 Q08708 CLM6_HUMAN R 141 ENSP00000329507:S141R ENSP00000329507:S141R S - 3 2 CD300C 70050699 0.000000 0.05858 0.000000 0.03702 0.099000 0.18886 -0.448000 0.06820 0.069000 0.16605 0.306000 0.20318 AGC CD300C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000145084.1 - ENST00000330793.1 Missense_Mutation SNP PCPG-TCGA-WB-A817-Normal-SM-5EMNE TTC17 55761 broad.mit.edu 37 11 43471655 43471655 + Missense_Mutation SNP C C T TCGA-WB-A817-01A-11D-A35I-08 TCGA-WB-A817-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f838433f-27eb-4de5-b188-19bec45b6297 c8459b8e-10f3-4a0d-8988-47ea061d3d49 g.chr11:43471655C>T ENST00000039989.4 + 20.0 2824 c.2810C>T c.(2809-2811)gCc>gTc p.A937V NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 937.0 actin filament polymerization (GO:0030041)|cilium organization (GO:0044782) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53.0 ATAGATTTTGCCACCCCTATA 0.473 0 121.0 112.0 115.0 11 43471655.0 2203.0 4300.0 6503.0 SO:0001583 missense AK001540 CCDS31466.1 11p11.2 2013-01-10 ENSG00000052841 ENSG00000052841 55761.0 55761.0 """Tetratricopeptide (TTC) repeat domain containing""" 25596.0 protein-coding gene gene with protein product 12477932 Standard NM_018259 NM_018259 Approved FLJ10890 uc001mxi.3 Q96AE7 OTTHUMG00000166398 ENST00000039989.4:c.2810C>T 11.__UNKNOWN__:g.43471655C>T ENSP00000039989:p.Ala937Val G3XAB3|Q8NEC0 __UNKNOWN__ CCDS31466.1 . . . . . . . . . . C 23.9 4.470025 0.84533 . . ENSG00000052841 ENST00000039989 T 0.34667 1.35 5.84 5.84 0.93424 . 0.000000 0.85682 D 0.000000 T 0.39145 0.1067 L 0.47716 1.5 0.80722 D 1 P 0.50443 0.935 B 0.43194 0.411 T 0.12116 -1.0560 10 0.42905 T 0.14 -13.769 20.1392 0.98050 0.0:1.0:0.0:0.0 . 937 Q96AE7 TTC17_HUMAN V 937 ENSP00000039989:A937V ENSP00000039989:A937V A + 2 0 TTC17 43428231 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 7.438000 0.80431 2.751000 0.94390 0.591000 0.81541 GCC TTC17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389577.2 + ENST00000039989.4 Missense_Mutation SNP PCPG-TCGA-WB-A817-Normal-SM-5EMNE RGN 9104 broad.mit.edu 37 X 46951083 46951083 + Missense_Mutation SNP G G T rs147490967 byFrequency TCGA-WB-A817-01A-11D-A35I-08 TCGA-WB-A817-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f838433f-27eb-4de5-b188-19bec45b6297 c8459b8e-10f3-4a0d-8988-47ea061d3d49 g.chrX:46951083G>T ENST00000352078.4 + 5.0 914 c.569G>T c.(568-570)cGc>cTc p.R190L RGN_ENST00000397180.1_Missense_Mutation_p.R190L|RGN_ENST00000336169.3_Missense_Mutation_p.R190L|RGN_ENST00000457380.1_Missense_Mutation_p.R118L NM_004683.4 NP_004674.1 Q15493 RGN_HUMAN regucalcin 190.0 cellular calcium ion homeostasis (GO:0006874)|L-ascorbic acid biosynthetic process (GO:0019853)|positive regulation of ATPase activity (GO:0032781)|regulation of calcium-mediated signaling (GO:0050848) cytoplasm (GO:0005737)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|enzyme regulator activity (GO:0030234)|gluconolactonase activity (GO:0004341)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 9.0 ATAGCCAACCGCAGAAGTGTT 0.428 0 108.0 102.0 104.0 X 46951083.0 2203.0 4300.0 6503.0 SO:0001583 missense D31815 CCDS14272.1, CCDS75968.1 Xp11.3 2014-03-14 2013-04-26 ENSG00000130988 ENSG00000130988 9104.0 9104.0 3.1.1.17 9989.0 protein-coding gene gene with protein product """senescence marker protein-30"", ""gluconolactonase""" 300212 """regucalcin (senescence marker protein-30)""" 7548213 Standard NM_004683 NM_152869 Approved SMP30, RC uc004dha.1 Q15493 OTTHUMG00000021435 ENST00000352078.4:c.569G>T X.__UNKNOWN__:g.46951083G>T ENSP00000253303:p.Arg190Leu A4FTW1|A8K271|Q53FC9|Q5JRR5 __UNKNOWN__ CCDS14272.1 . . . . . . . . . . G 23.0 4.360674 0.82353 . . ENSG00000130988 ENST00000397180;ENST00000457380;ENST00000352078;ENST00000336169 T;T;T;T 0.29917 1.55;1.62;1.55;1.55 6.02 6.02 0.97574 SMP-30/Gluconolaconase/LRE-like region (1);Six-bladed beta-propeller, TolB-like (1); 0.048497 0.85682 D 0.000000 T 0.56426 0.1984 M 0.88450 2.955 0.80722 D 1 P;D 0.56287 0.866;0.975 B;P 0.55260 0.269;0.772 T 0.64114 -0.6483 10 0.62326 D 0.03 -25.4877 15.8082 0.78531 0.0:0.1414:0.8586:0.0 . 118;190 Q15493-2;Q15493 .;RGN_HUMAN L 190;118;190;190 ENSP00000380365:R190L;ENSP00000406568:R118L;ENSP00000253303:R190L;ENSP00000338400:R190L ENSP00000338400:R190L R + 2 0 RGN 46836027 1.000000 0.71417 1.000000 0.80357 0.672000 0.39443 2.641000 0.46587 2.555000 0.86185 0.591000 0.81541 CGC RGN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056385.1 + ENST00000352078.4 Missense_Mutation SNP PCPG-TCGA-WB-A817-Normal-SM-5EMNE ARID3A 1820 broad.mit.edu 37 19 971939 971939 + Silent SNP C C T TCGA-WB-A817-01A-11D-A35I-08 TCGA-WB-A817-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f838433f-27eb-4de5-b188-19bec45b6297 c8459b8e-10f3-4a0d-8988-47ea061d3d49 g.chr19:971939C>T ENST00000263620.3 + 9.0 1983 c.1656C>T c.(1654-1656)ggC>ggT p.G552G NM_005224.2 NP_005215.1 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT-like) 552.0 Gly-rich.|Important for cytoplasmic localization. {ECO:0000250}. cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634) chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228) p.G552G(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10.0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AAGGAggcggcggcggcggcg 0.657 Pancreas(29;54 1022 32760 50921) 1 Substitution - coding silent(1) endometrium(1) 22.0 30.0 28.0 19 971939.0 2198.0 4283.0 6481.0 SO:0001819 synonymous_variant U88047 CCDS12050.1 19p13.3 2013-02-07 2006-11-08 2004-01-30 ENSG00000116017 1820.0 1820.0 """-""" 3031.0 protein-coding gene gene with protein product 603265 """dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)""" DRIL1 9722953 Standard NM_005224 NM_005224 Approved BRIGHT uc002lql.3 Q99856 ENST00000263620.3:c.1656C>T 19.__UNKNOWN__:g.971939C>T Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3 __UNKNOWN__ CCDS12050.1 ARID3A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000458219.1 + ENST00000263620.3 Silent SNP PCPG-TCGA-WB-A817-Normal-SM-5EMNE MYADM 91663 broad.mit.edu 37 19 54377573 54377573 + Missense_Mutation SNP G G A TCGA-WB-A817-01A-11D-A35I-08 TCGA-WB-A817-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f838433f-27eb-4de5-b188-19bec45b6297 c8459b8e-10f3-4a0d-8988-47ea061d3d49 g.chr19:54377573G>A ENST00000391769.2 + 3.0 1070 c.790G>A c.(790-792)Gat>Aat p.D264N MYADM_ENST00000336967.3_Missense_Mutation_p.D264N|MYADM_ENST00000391771.1_Missense_Mutation_p.D264N|MYADM_ENST00000391768.2_Missense_Mutation_p.D264N|MYADM_ENST00000391770.4_Missense_Mutation_p.D264N NM_001020821.1 NP_001018657.1 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 264.0 MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}. establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661) cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726) p.D264Y(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12.0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) CTACCAGTTCGATGAGAAGTA 0.637 1 Substitution - Missense(1) upper_aerodigestive_tract(1) 70.0 63.0 65.0 19 54377573.0 2203.0 4300.0 6503.0 SO:0001583 missense AF087882 CCDS12866.1 19q13.33-q13.4 2004-07-23 ENSG00000179820 ENSG00000179820 91663.0 91663.0 7544.0 protein-coding gene gene with protein product 609959 10733104, 12075932 Standard NM_138373 NM_001020818 Approved uc002qcl.3 Q96S97 OTTHUMG00000060775 ENST00000391769.2:c.790G>A 19.__UNKNOWN__:g.54377573G>A ENSP00000375649:p.Asp264Asn B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9 __UNKNOWN__ CCDS12866.1 . . . . . . . . . . G 16.24 3.067601 0.55539 . . ENSG00000179820 ENST00000336967;ENST00000391770;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768 T;T;T;T;T 0.27104 1.69;1.69;1.69;1.69;1.69 4.3 -5.11 0.02901 Marvel (1);MARVEL-like domain (1); 0.124423 0.50627 N 0.000103 T 0.13884 0.0336 L 0.42581 1.335 0.45330 D 0.99832 B 0.11235 0.004 B 0.04013 0.001 T 0.17471 -1.0368 10 0.16896 T 0.51 -17.5899 6.5573 0.22468 0.4965:0.1257:0.3778:0.0 . 264 Q96S97 MYADM_HUMAN N 264;264;264;227;264;264 ENSP00000337222:D264N;ENSP00000375650:D264N;ENSP00000375651:D264N;ENSP00000375649:D264N;ENSP00000375648:D264N ENSP00000337222:D264N D + 1 0 MYADM 59069385 0.017000 0.18338 0.036000 0.18154 0.489000 0.33432 0.633000 0.24598 -0.848000 0.04163 0.305000 0.20034 GAT MYADM-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000134337.1 + ENST00000391769.2 Missense_Mutation SNP PCPG-TCGA-WB-A817-Normal-SM-5EMNE RNF17 56163 broad.mit.edu 37 13 25451163 25451163 + Missense_Mutation SNP C C T TCGA-WB-A817-01A-11D-A35I-08 TCGA-WB-A817-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f838433f-27eb-4de5-b188-19bec45b6297 c8459b8e-10f3-4a0d-8988-47ea061d3d49 g.chr13:25451163C>T ENST00000255324.5 + 34.0 4664 c.4612C>T c.(4612-4614)Cgg>Tgg p.R1538W RNF17_ENST00000381921.1_Missense_Mutation_p.R1496W|RNF17_ENST00000339524.3_Missense_Mutation_p.R548W NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1538.0 Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}. multicellular organismal development (GO:0007275)|spermatid development (GO:0007286) cytoplasm (GO:0005737)|nucleus (GO:0005634) hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36.0 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TCATCTTATGCGGTATCCAGC 0.403 0 79.0 82.0 81.0 13 25451163.0 2203.0 4300.0 6503.0 SO:0001583 missense AF285602, AK001907 CCDS9308.2 13q12.13 2013-01-23 ENSG00000132972 ENSG00000132972 56163.0 56163.0 """RING-type (C3HC4) zinc fingers"", ""Tudor domain containing""" 10060.0 protein-coding gene gene with protein product """spermatogenesis associated 23""" 605793 """tudor domain containing 4""" TDRD4 11279525 Standard NM_031994 NM_001184993 Approved Mmip-2, SPATA23, FLJ11045 uc001upr.3 Q9BXT8 OTTHUMG00000016589 ENST00000255324.5:c.4612C>T 13.__UNKNOWN__:g.25451163C>T ENSP00000255324:p.Arg1538Trp Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9 __UNKNOWN__ CCDS9308.2 . . . . . . . . . . C 16.53 3.149514 0.57151 . . ENSG00000132972 ENST00000255324;ENST00000381921;ENST00000339524 T;T;T 0.09911 2.93;2.93;2.93 5.66 2.7 0.31948 Tudor subgroup (1);Maternal tudor protein (1); 0.524360 0.17164 N 0.184547 T 0.15003 0.0362 L 0.29908 0.895 0.80722 D 1 D;D;B;D 0.76494 0.998;0.98;0.023;0.999 P;P;B;P 0.56916 0.663;0.72;0.004;0.809 T 0.03148 -1.1067 10 0.72032 D 0.01 -0.586 9.3923 0.38381 0.271:0.6531:0.0:0.0759 . 1534;548;1532;1538 B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8 .;.;.;RNF17_HUMAN W 1538;1496;548 ENSP00000255324:R1538W;ENSP00000371346:R1496W;ENSP00000344776:R548W ENSP00000255324:R1538W R + 1 2 RNF17 24349163 1.000000 0.71417 1.000000 0.80357 0.489000 0.33432 1.157000 0.31724 1.384000 0.46424 0.555000 0.69702 CGG RNF17-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044217.1 + ENST00000255324.5 Missense_Mutation SNP PCPG-TCGA-WB-A817-Normal-SM-5EMNE JARID2 3720 broad.mit.edu 37 6 15501192 15501192 + Missense_Mutation SNP G G A TCGA-WB-A817-01A-11D-A35I-08 TCGA-WB-A817-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f838433f-27eb-4de5-b188-19bec45b6297 c8459b8e-10f3-4a0d-8988-47ea061d3d49 g.chr6:15501192G>A ENST00000341776.2 + 8.0 2244 c.2000G>A c.(1999-2001)gGc>gAc p.G667D JARID2_ENST00000397311.3_Missense_Mutation_p.G495D|JARID2_ENST00000541660.1_Missense_Mutation_p.G629D NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 667.0 ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}. central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677) 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) 59.0 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) GAGATGGGCGGCATGCAGCAA 0.562 0 102.0 107.0 105.0 6 15501192.0 2203.0 4300.0 6503.0 SO:0001583 missense U57592 CCDS4533.1, CCDS58996.1 6p24-p23 2008-02-05 2006-10-06 2004-01-30 ENSG00000008083 ENSG00000008083 3720.0 3720.0 6196.0 protein-coding gene gene with protein product 601594 """jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2""" JMJ 8894700 Standard NM_004973 NM_001267040 Approved uc003nbj.4 Q92833 OTTHUMG00000014293 ENST00000341776.2:c.2000G>A 6.__UNKNOWN__:g.15501192G>A ENSP00000341280:p.Gly667Asp A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63 __UNKNOWN__ CCDS4533.1 . . . . . . . . . . G 27.2 4.812503 0.90707 . . ENSG00000008083 ENST00000341776;ENST00000397311;ENST00000541660 D;D;D 0.87887 -2.31;-2.31;-2.31 5.15 5.15 0.70609 ARID/BRIGHT DNA-binding domain (5); 0.000000 0.85682 D 0.000000 D 0.93390 0.7892 M 0.82823 2.61 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.94181 0.7432 10 0.87932 D 0 -12.4643 18.621 0.91321 0.0:0.0:1.0:0.0 . 629;667 F5H590;Q92833 .;JARD2_HUMAN D 667;495;629 ENSP00000341280:G667D;ENSP00000380478:G495D;ENSP00000444623:G629D ENSP00000341280:G667D G + 2 0 JARID2 15609171 1.000000 0.71417 1.000000 0.80357 0.952000 0.60782 9.624000 0.98398 2.396000 0.81511 0.561000 0.74099 GGC JARID2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000039926.1 + ENST00000341776.2 Missense_Mutation SNP PCPG-TCGA-WB-A817-Normal-SM-5EMNE CACNA1D 776 broad.mit.edu 37 3 53757871 53757879 + In_Frame_Del DEL TCCATCGCT TCCATCGCT - rs139269186 TCGA-WB-A817-01A-11D-A35I-08 TCGA-WB-A817-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f838433f-27eb-4de5-b188-19bec45b6297 c8459b8e-10f3-4a0d-8988-47ea061d3d49 g.chr3:53757871_53757879delTCCATCGCT ENST00000422281.2 + 14.0 1945_1953 c.1945_1953delTCCATCGCT c.(1945-1953)tccatcgctdel p.SIA649del CACNA1D_ENST00000350061.5_In_Frame_Del_p.SIA649del|CACNA1D_ENST00000288139.4_In_Frame_Del_p.SIA669del NM_001128839.1 NP_001122311.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 649.0 adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281) plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018) alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059) 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) 90.0 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) Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661) CTCCATGAAGTCCATCGCTTCGCTGTTGC 0.455 0 SO:0001651 inframe_deletion AB209171 CCDS2872.1, CCDS46848.1, CCDS46849.1 3p14.3 2012-03-07 ENSG00000157388 ENSG00000157388 776.0 776.0 """Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels""" 1391.0 protein-coding gene gene with protein product 114206 CCHL1A2, CACNL1A2 1664412 Standard NM_000720 NM_000720 Approved Cav1.3, CACH3, CACN4 uc003dgu.5 Q01668 OTTHUMG00000158278 ENST00000422281.2:c.1945_1953delTCCATCGCT 3.__UNKNOWN__:g.53757871_53757879delTCCATCGCT ENSP00000409174:p.Ser649_Ala651del B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3 __UNKNOWN__ CCDS46849.1 CACNA1D-002 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000350556.1 + ENST00000422281.2 In_Frame_Del DEL PCPG-TCGA-WB-A817-Normal-SM-5EMNE FKBP15 23307 ucsc.edu 37 9 115959214 115959214 + Missense_Mutation SNP G G A TCGA-WB-A817-01A-11D-A35I-08 TCGA-WB-A817-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq f838433f-27eb-4de5-b188-19bec45b6297 c8459b8e-10f3-4a0d-8988-47ea061d3d49 g.chr9:115959214G>A ENST00000238256.3 - 9.0 979 c.862C>T c.(862-864)Cgg>Tgg p.R288W NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 288.0 PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}. endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457) actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26.0 TCACTCACCCGCCTAACCTCC 0.458 0 80.0 79.0 80.0 9 115959214.0 1967.0 4138.0 6105.0 SO:0001583 missense AB014574 CCDS48007.1 9q33.1 2014-05-09 2006-10-31 2006-10-31 ENSG00000119321 ENSG00000119321 23307.0 23307.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 23397.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein""" """KIAA0674""" KIAA0674 16756961, 20376207 Standard NM_015258 NM_015258 Approved PPP1R76, FKBP133, WAFL uc004bgs.2 Q5T1M5 OTTHUMG00000020518 ENST00000238256.3:c.862C>T 9.__UNKNOWN__:g.115959214G>A ENSP00000238256:p.Arg288Trp Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0 __UNKNOWN__ CCDS48007.1 . . . . . . . . . . G 18.17 3.565172 0.65651 . . ENSG00000119321 ENST00000446284;ENST00000238256;ENST00000414250 T;T;T 0.43688 0.94;0.94;0.94 5.33 3.4 0.38934 Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1); . . . . T 0.65238 0.2672 M 0.83118 2.625 0.44771 D 0.997778 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;0.999;0.999 T 0.71230 -0.4654 9 0.87932 D 0 -19.322 12.5508 0.56225 0.0:0.0:0.7:0.3 . 288;288;288 Q5T1M5-2;Q5T1M5-3;Q5T1M5 .;.;FKB15_HUMAN W 313;288;313 ENSP00000416158:R313W;ENSP00000238256:R288W;ENSP00000415733:R313W ENSP00000238256:R288W R - 1 2 FKBP15 114999035 1.000000 0.71417 1.000000 0.80357 0.546000 0.35178 4.582000 0.60957 1.242000 0.43836 -0.169000 0.13324 CGG FKBP15-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding - ENST00000238256.3 Missense_Mutation SNP PCPG-TCGA-WB-A817-Normal-SM-5EMNE STIM1 6786 ucsc.edu 37 11 4095767 4095767 + Missense_Mutation SNP A A T TCGA-WB-A817-01A-11D-A35I-08 TCGA-WB-A817-10A-01D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq f838433f-27eb-4de5-b188-19bec45b6297 c8459b8e-10f3-4a0d-8988-47ea061d3d49 g.chr11:4095767A>T ENST00000300737.4 + 7.0 1396 c.827A>T c.(826-828)gAg>gTg p.E276V STIM1_ENST00000527651.1_Missense_Mutation_p.E276V|STIM1_ENST00000533977.1_Missense_Mutation_p.E103V NM_003156.3 NP_003147.2 Q13586 STIM1_HUMAN stromal interaction molecule 1 276.0 Glu-rich. activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115) cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874) calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30.0 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) CGCACAGTGGAGGTGGAGAAG 0.617 0 58.0 52.0 54.0 11 4095767.0 2201.0 4298.0 6499.0 SO:0001583 missense BC021300, U52426 CCDS7749.1, CCDS60706.1, CCDS73247.1 11p15.5 2014-09-17 ENSG00000167323 ENSG00000167323 6786.0 6786.0 """Sterile alpha motif (SAM) domain containing""" 11386.0 protein-coding gene gene with protein product 605921 8921403, 11463338, 11983428 Standard NM_003156 NM_003156 Approved GOK, D11S4896E uc021qco.1 Q13586 OTTHUMG00000133360 ENST00000300737.4:c.827A>T 11.__UNKNOWN__:g.4095767A>T ENSP00000300737:p.Glu276Val E9PQJ4|Q8N382 __UNKNOWN__ CCDS7749.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 24.0|24.0 4.478928|4.478928 0.84747|0.84747 .|. .|. ENSG00000167323|ENSG00000167323 ENST00000300737;ENST00000527651;ENST00000533977|ENST00000526596 T;T;T|. 0.78003|. -0.2;-1.14;-0.2|. 5.44|5.44 5.44|5.44 0.79542|0.79542 .|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.53417|0.53417 0.1795|0.1795 L|L 0.27053|0.27053 0.805|0.805 0.80722|0.80722 D|D 1|1 D;D|. 0.89917|. 0.997;1.0|. P;D|. 0.64144|. 0.879;0.922|. T|T 0.50668|0.50668 -0.8801|-0.8801 10|5 0.02654|. T|. 1|. -24.349|-24.349 14.6952|14.6952 0.69115|0.69115 1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0 .|. 276;276|. E9PQJ4;Q13586|. .;STIM1_HUMAN|. V|W 276;276;103|7 ENSP00000300737:E276V;ENSP00000436208:E276V;ENSP00000434767:E103V|. ENSP00000300737:E276V|. E|R +|+ 2|1 0|2 STIM1|STIM1 4052343|4052343 0.979000|0.979000 0.34478|0.34478 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 2.246000|2.246000 0.43142|0.43142 2.071000|2.071000 0.62044|0.62044 0.533000|0.533000 0.62120|0.62120 GAG|AGG STIM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257196.1 + ENST00000300737.4 Missense_Mutation SNP PCPG-TCGA-WB-A817-Normal-SM-5EMNE PPP6C 5537 broad.mit.edu 37 9 127915922 127915922 + Missense_Mutation SNP G G A TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr9:127915922G>A ENST00000373547.4 - 6.0 658 c.559C>T c.(559-561)Cat>Tat p.H187Y PPP6C_ENST00000451402.1_Missense_Mutation_p.H224Y|PPP6C_ENST00000373546.3_Missense_Mutation_p.H40Y|PPP6C_ENST00000415905.1_Missense_Mutation_p.H165Y NM_002721.4 NP_002712.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 187.0 G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470) cytosol (GO:0005829) metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722) NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14.0 GCTCCTTTATGAGGAATTTCC 0.438 0 91.0 81.0 85.0 9 127915922.0 2203.0 4300.0 6503.0 SO:0001583 missense AF035158 CCDS6861.1, CCDS48018.1, CCDS48019.1 9q33.3 2010-03-17 ENSG00000119414 ENSG00000119414 5537.0 5537.0 """Serine/threonine phosphatases / Protein phosphatase, catalytic subunits""" 9323.0 protein-coding gene gene with protein product 612725 9143513 Standard NM_016294 NM_002721 Approved PP6 uc004bpg.4 O00743 OTTHUMG00000020671 ENST00000373547.4:c.559C>T 9.__UNKNOWN__:g.127915922G>A ENSP00000362648:p.His187Tyr B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9 __UNKNOWN__ CCDS6861.1 . . . . . . . . . . G 19.29 3.798326 0.70567 . . ENSG00000119414 ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546 T;T;T;T 0.54675 0.56;0.56;0.56;0.56 5.76 5.76 0.90799 Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1); 0.000000 0.85682 D 0.000000 T 0.63593 0.2524 M 0.87547 2.89 0.80722 D 1 B;B;B 0.18013 0.01;0.002;0.025 B;B;B 0.22753 0.041;0.005;0.028 T 0.64347 -0.6429 10 0.72032 D 0.01 -20.0968 18.9632 0.92684 0.0:0.0:1.0:0.0 . 165;224;187 O00743-2;O00743-3;O00743 .;.;PPP6_HUMAN Y 187;224;165;40 ENSP00000362648:H187Y;ENSP00000392147:H224Y;ENSP00000411744:H165Y;ENSP00000362647:H40Y ENSP00000362647:H40Y H - 1 0 PPP6C 126955743 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 9.421000 0.97455 2.724000 0.93272 0.585000 0.79938 CAT PPP6C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054060.1 - ENST00000373547.4 Missense_Mutation SNP PCPG-TCGA-WB-A818-Normal-SM-5EMNQ USP9X 8239 broad.mit.edu 37 X 40990708 40990708 + Splice_Site SNP A A G TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chrX:40990708A>G ENST00000378308.2 + 4.0 875 c.e4-1 USP9X_ENST00000324545.8_Splice_Site Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511) apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020) co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221) 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) 87.0 TAAAACTTTTAGGCCTCGATG 0.323 Ovarian(172;1807 2695 35459 49286) 0 125.0 118.0 120.0 X 40990708.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant X98296 CCDS43930.1, CCDS55403.1 Xp11.4 2010-08-03 2006-02-14 ENSG00000124486 ENSG00000124486 8239.0 8239.0 """Ubiquitin-specific peptidases""" 12632.0 protein-coding gene gene with protein product 300072 """ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)""" 8922996 Standard NM_004652 NM_001039590 Approved DFFRX, FAF uc004dfb.3 Q93008 OTTHUMG00000021367 ENST00000378308.2:c.243-1A>G X.__UNKNOWN__:g.40990708A>G O75550|Q8WWT3|Q8WX12 __UNKNOWN__ CCDS55403.1 . . . . . . . . . . A 19.69 3.874910 0.72180 . . ENSG00000124486 ENST00000378308;ENST00000324545 . . . 5.1 5.1 0.69264 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 14.1419 0.65325 1.0:0.0:0.0:0.0 . . . . . -1 . . . + . . USP9X 40875652 1.000000 0.71417 0.962000 0.40283 0.910000 0.53928 8.927000 0.92846 1.786000 0.52430 0.486000 0.48141 . USP9X-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056248.2 Intron + ENST00000378308.2 Splice_Site SNP PCPG-TCGA-WB-A818-Normal-SM-5EMNQ TRIM17 51127 broad.mit.edu 37 1 228596776 228596776 + Missense_Mutation SNP G G C TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr1:228596776G>C ENST00000366697.2 - 5.0 1840 TRIM17_ENST00000366698.2_Intron|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000295033.3_Intron|TRIM17_ENST00000456946.2_Missense_Mutation_p.S327C Q9Y577 TRI17_HUMAN tripartite motif containing 17 protein autoubiquitination (GO:0051865) intracellular (GO:0005622) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10.0 Prostate(94;0.0724) TGCACTTGTAGAACCCCCCCC 0.572 0 61.0 73.0 70.0 1 228596776.0 692.0 1591.0 2283.0 SO:0001627 intron_variant AF156271 CCDS1571.1, CCDS44327.1 1q42 2013-01-09 2011-01-25 2001-11-30 ENSG00000162931 ENSG00000162931 51127.0 51127.0 """Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers""" 13430.0 protein-coding gene gene with protein product """ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein""" 606123 """tripartite motif-containing 17""" RNF16 9792805, 10894938 Standard NM_016102 NM_016102 Approved terf, RBCC uc001hsv.3 Q9Y577 OTTHUMG00000039974 ENST00000366697.2:c.883+96C>G 1.__UNKNOWN__:g.228596776G>C B4DVJ2|Q5VST8 __UNKNOWN__ CCDS1571.1 . . . . . . . . . . G 3.137 -0.177217 0.06380 . . ENSG00000162931 ENST00000456946 T 0.37584 1.19 1.32 1.32 0.21799 . . . . . T 0.14356 0.0347 N 0.08118 0 0.09310 N 1 D 0.55605 0.972 B 0.37601 0.254 T 0.07252 -1.0782 9 0.31617 T 0.26 . 6.0414 0.19736 0.0:0.0:1.0:0.0 . 327 Q9Y577-2 . C 327 ENSP00000403312:S327C ENSP00000403312:S327C S - 2 0 TRIM17 226663399 0.000000 0.05858 0.001000 0.08648 0.002000 0.02628 -0.180000 0.09754 1.042000 0.40150 0.655000 0.94253 TCT TRIM17-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000096439.2 - ENST00000366697.2 Intron SNP PCPG-TCGA-WB-A818-Normal-SM-5EMNQ TTN 7273 broad.mit.edu 37 2 179455982 179455982 + Missense_Mutation SNP G G T TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr2:179455982G>T ENST00000589042.1 - 304.0 60694 c.60470C>A c.(60469-60471)gCc>gAc p.A20157D TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17589D|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A11217D|TTN_ENST00000460472.2_Missense_Mutation_p.A11092D|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11284D|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A18516D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18516.0 Fibronectin type-III 46. {ECO:0000255|PROSITE-ProRule:PRU00316}. adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) 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) 1448.0 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGCTACCGGCTGCATTGGA 0.423 0 236.0 240.0 239.0 2 179455982.0 1914.0 4134.0 6048.0 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273.0 7273.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403.0 protein-coding gene gene with protein product 188840 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_133378 NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.60470C>A 2.__UNKNOWN__:g.179455982G>T ENSP00000467141:p.Ala20157Asp A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 __UNKNOWN__ CCDS59435.1 . . . . . . . . . . G 11.98 1.799657 0.31869 . . ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.69685 -0.42;-0.42;-0.42;-0.42 6.11 6.11 0.99139 Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . D 0.84844 0.5562 M 0.91354 3.2 0.80722 D 1 D;D;D;D 0.76494 0.999;0.999;0.999;0.999 D;D;D;D 0.70487 0.969;0.969;0.969;0.969 D 0.87287 0.2296 9 0.87932 D 0 . 14.832 0.70156 0.0681:0.0:0.9319:0.0 . 11092;11217;11284;18516 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN D 17589;11092;11284;11217;11090 ENSP00000343764:A17589D;ENSP00000434586:A11092D;ENSP00000340554:A11284D;ENSP00000352154:A11217D ENSP00000340554:A11284D A - 2 0 TTN 179164228 1.000000 0.71417 1.000000 0.80357 0.964000 0.63967 8.029000 0.88807 2.906000 0.99361 0.655000 0.94253 GCC TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 - ENST00000589042.1 Missense_Mutation SNP PCPG-TCGA-WB-A818-Normal-SM-5EMNQ DMKN 93099 broad.mit.edu 37 19 36004008 36004008 + Missense_Mutation SNP C C T TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr19:36004008C>T ENST00000339686.3 - 1.0 546 c.370G>A c.(370-372)Gga>Aga p.G124R DMKN_ENST00000429837.1_Missense_Mutation_p.G124R|DMKN_ENST00000451297.2_Missense_Mutation_p.G124R|DMKN_ENST00000419602.1_Missense_Mutation_p.G124R|DMKN_ENST00000440396.1_Missense_Mutation_p.G124R|DMKN_ENST00000447113.2_Missense_Mutation_p.G124R|DMKN_ENST00000418261.1_Missense_Mutation_p.G124R|DMKN_ENST00000424570.2_Missense_Mutation_p.G124R NM_033317.4 NP_201574 Q6E0U4 DMKN_HUMAN dermokine 124.0 Gly-rich. extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27.0 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) GCATCTGCTCCGTGTCGAATG 0.617 0 103.0 96.0 98.0 19 36004008.0 2203.0 4300.0 6503.0 SO:0001583 missense BC035311 CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1 19q13.12 2008-10-27 ENSG00000161249 ENSG00000161249 93099.0 93099.0 25063.0 protein-coding gene gene with protein product 16374476 Standard NM_033317 NM_001035516 Approved ZD52F10 uc002nzm.4 Q6E0U4 OTTHUMG00000048101 ENST00000339686.3:c.370G>A 19.__UNKNOWN__:g.36004008C>T ENSP00000342012:p.Gly124Arg A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6 __UNKNOWN__ CCDS12463.1 . . . . . . . . . . T 11.35 1.611585 0.28712 . . ENSG00000161249 ENST00000339686;ENST00000392207;ENST00000429837;ENST00000419602;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297 T;T;T;T;T;T;T;T 0.55052 1.25;1.09;1.03;0.54;0.62;0.66;0.66;0.73 4.38 3.34 0.38264 . 0.226724 0.22661 N 0.057193 T 0.50786 0.1636 M 0.65975 2.015 0.09310 N 1 B;B;B;B;B;B;B 0.33135 0.039;0.119;0.119;0.039;0.399;0.399;0.271 B;B;B;B;B;B;B 0.32980 0.063;0.016;0.028;0.063;0.156;0.156;0.156 T 0.42085 -0.9472 10 0.44086 T 0.13 -2.1229 12.9631 0.58470 0.0:0.9093:0.0:0.0907 . 124;124;124;124;124;124;124 E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4 .;.;.;.;.;.;DMKN_HUMAN R 124 ENSP00000342012:G124R;ENSP00000405503:G124R;ENSP00000391036:G124R;ENSP00000394908:G124R;ENSP00000415277:G124R;ENSP00000414743:G124R;ENSP00000388404:G124R;ENSP00000409513:G124R ENSP00000342012:G124R G - 1 0 DMKN 40695848 0.042000 0.20092 0.001000 0.08648 0.004000 0.04260 1.479000 0.35453 0.515000 0.28320 -1.314000 0.01303 GGA DMKN-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000109461.2 - ENST00000339686.3 Missense_Mutation SNP PCPG-TCGA-WB-A818-Normal-SM-5EMNQ SORBS1 10580 broad.mit.edu 37 10 97131803 97131803 + Missense_Mutation SNP G G A TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr10:97131803G>A ENST00000361941.3 - 18.0 1767 c.1741C>T c.(1741-1743)Ccc>Tcc p.P581S SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P535S|SORBS1_ENST00000393949.1_Missense_Mutation_p.P551S|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000353505.5_Missense_Mutation_p.P466S|SORBS1_ENST00000277982.5_Missense_Mutation_p.P603S|SORBS1_ENST00000371247.2_Missense_Mutation_p.P581S|SORBS1_ENST00000371245.3_Missense_Mutation_p.P466S|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.P603S|SORBS1_ENST00000354106.3_Missense_Mutation_p.P551S NM_001034954.1 NP_001030126 sorbin and SH3 domain containing 1 NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42.0 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) ATCTTTTTGGGAGGCTGACGG 0.478 0 85.0 82.0 83.0 10 97131803.0 2203.0 4300.0 6503.0 SO:0001583 missense AF136381 CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1 10q23.33 2011-07-25 2002-05-08 ENSG00000095637 ENSG00000095637 10580.0 10580.0 14565.0 protein-coding gene gene with protein product """c-Cbl-associated protein""" 605264 """SH3-domain protein 5 (ponsin)""" SH3D5 10085297, 11001060 Standard XM_005269405 Approved FLJ12406, CAP, sh3p12, ponsin, KIAA1296 uc001kkp.3 Q9BX66 OTTHUMG00000018812 ENST00000361941.3:c.1741C>T 10.__UNKNOWN__:g.97131803G>A ENSP00000355136:p.Pro581Ser __UNKNOWN__ CCDS31255.1 . . . . . . . . . . G 23.1 4.378033 0.82682 . . ENSG00000095637 ENST00000371245;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000361941;ENST00000277982;ENST00000354106 T;T;T;T;T;T;T;T;T 0.39997 1.05;3.09;3.06;3.41;2.93;1.05;3.09;3.41;2.93 5.69 5.69 0.88448 . 0.000000 0.38837 N 0.001554 T 0.54095 0.1837 N 0.20986 0.625 0.80722 D 1 P;D;P;D;P 0.89917 0.734;0.999;0.911;1.0;0.577 B;D;B;D;B 0.85130 0.421;0.994;0.433;0.997;0.187 T 0.57015 -0.7883 10 0.62326 D 0.03 -13.6127 19.7999 0.96502 0.0:0.0:1.0:0.0 . 535;466;581;603;551 Q9BX66-11;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-5 .;.;SRBS1_HUMAN;.;. S 466;581;535;603;551;466;581;603;551 ENSP00000360291:P466S;ENSP00000360293:P581S;ENSP00000360271:P535S;ENSP00000360292:P603S;ENSP00000377521:P551S;ENSP00000343998:P466S;ENSP00000355136:P581S;ENSP00000277982:P603S;ENSP00000277984:P551S ENSP00000277982:P603S P - 1 0 SORBS1 97121793 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 8.523000 0.90576 2.691000 0.91804 0.561000 0.74099 CCC SORBS1-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000049517.1 - ENST00000361941.3 Missense_Mutation SNP PCPG-TCGA-WB-A818-Normal-SM-5EMNQ MYH8 4626 broad.mit.edu 37 17 10305000 10305000 + Missense_Mutation SNP C C T rs142137577 TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr17:10305000C>T ENST00000403437.2 - 23.0 2885 c.2791G>A c.(2791-2793)Gag>Aag p.E931K RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 931.0 ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009) cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017) actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307) 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) 134.0 TCTTCCTCCTCCTCAGCTCTT 0.438 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 0 C LYS/GLU 1,4405 2.1+/-5.4 0,1,2202 352.0 338.0 343.0 2791 5.3 1.0 17 dbSNP_134 343.0 3,8597 3.0+/-9.4 0,3,4297 yes missense MYH8 NM_002472.2 56 0,4,6499 TT,TC,CC 0.0349,0.0227,0.0308 benign 931/1938 10305000.0 4,13002 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database Carney Complex Variant CCDS11153.1 17p13.1 2013-09-19 2006-09-29 ENSG00000133020 ENSG00000133020 4626.0 4626.0 """Myosins / Myosin superfamily : Class II""" 7578.0 protein-coding gene gene with protein product 160741 """myosin, heavy polypeptide 8, skeletal muscle, perinatal""" 2373371 Standard NM_002472 NM_002472 Approved MyHC-peri, MyHC-pn uc002gmm.2 P13535 OTTHUMG00000130361 ENST00000403437.2:c.2791G>A 17.__UNKNOWN__:g.10305000C>T ENSP00000384330:p.Glu931Lys Q14910 __UNKNOWN__ CCDS11153.1 . . . . . . . . . . C 19.73 3.881598 0.72294 2.27E-4 3.49E-4 ENSG00000133020 ENST00000252173;ENST00000403437 D 0.94793 -3.52 5.31 5.31 0.75309 . 0.158984 0.28521 U 0.015045 D 0.95708 0.8604 M 0.87758 2.905 0.45867 D 0.998726 B 0.27166 0.17 B 0.33121 0.158 D 0.94593 0.7789 10 0.87932 D 0 . 19.1814 0.93625 0.0:1.0:0.0:0.0 . 931 P13535 MYH8_HUMAN K 931 ENSP00000384330:E931K ENSP00000252173:E931K E - 1 0 MYH8 10245725 1.000000 0.71417 0.999000 0.59377 0.996000 0.88848 7.609000 0.82925 2.779000 0.95612 0.591000 0.81541 GAG MYH8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252724.2 - ENST00000403437.2 Missense_Mutation SNP PCPG-TCGA-WB-A818-Normal-SM-5EMNQ SYNE2 23224 broad.mit.edu 37 14 64685207 64685207 + Missense_Mutation SNP C C T TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr14:64685207C>T ENST00000554584.1 + 109.0 19387 SYNE2_ENST00000344113.4_Missense_Mutation_p.A6522V|SYNE2_ENST00000554805.1_Missense_Mutation_p.A305V|SYNE2_ENST00000555002.1_Missense_Mutation_p.A3179V|SYNE2_ENST00000358025.3_Missense_Mutation_p.A6545V|SYNE2_ENST00000555022.1_Missense_Mutation_p.A400V|SYNE2_ENST00000458046.2_Missense_Mutation_p.A179V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.A2907V|SYNE2_ENST00000441438.2_Missense_Mutation_p.A53V|SYNE2_ENST00000394768.2_Missense_Mutation_p.A2907V Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504) aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018) actin binding (GO:0003779) 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) 224.0 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GGGGGACTGGCCGGTATCACA 0.527 0 60.0 63.0 62.0 14 64685207.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AB023228 CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1 14q22.1-q22.3 2014-09-17 ENSG00000054654 ENSG00000054654 23224.0 23224.0 17084.0 protein-coding gene gene with protein product """nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element""" 608442 10231032, 10878022 Standard NM_182914 NM_182910 Approved SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2 uc001xgl.3 Q8WXH0 OTTHUMG00000140349 ENST00000554584.1:c.19337-719C>T 14.__UNKNOWN__:g.64685207C>T Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1 __UNKNOWN__ . . . . . . . . . . C 12.74 2.028348 0.35797 . . ENSG00000054654 ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438 T;T;T;T;T;T;T;T;T 0.47177 0.86;4.09;0.85;4.15;4.09;3.72;3.25;2.92;2.74 4.83 4.83 0.62350 . 0.300803 0.23782 N 0.044608 T 0.42743 0.1216 L 0.55481 1.735 0.80722 D 1 B;B;B;B;B;B;P 0.38048 0.03;0.03;0.107;0.107;0.009;0.192;0.616 B;B;B;B;B;B;B 0.34824 0.01;0.033;0.061;0.023;0.01;0.082;0.19 T 0.45833 -0.9234 10 0.51188 T 0.08 . 13.2847 0.60237 0.0:1.0:0.0:0.0 . 179;2907;53;179;910;6522;6545 B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;Q8WXH0;Q8WXH0-2 .;.;.;.;.;SYNE2_HUMAN;. V 6545;2907;6522;3179;2907;400;305;179;53 ENSP00000350719:A6545V;ENSP00000349969:A2907V;ENSP00000341781:A6522V;ENSP00000450831:A3179V;ENSP00000378249:A2907V;ENSP00000451009:A400V;ENSP00000450605:A305V;ENSP00000391937:A179V;ENSP00000396794:A53V ENSP00000341781:A6522V A + 2 0 SYNE2 63754960 0.417000 0.25432 0.013000 0.15412 0.004000 0.04260 1.003000 0.29809 2.489000 0.83994 0.561000 0.74099 GCC SYNE2-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000411905.1 + ENST00000554584.1 Intron SNP PCPG-TCGA-WB-A818-Normal-SM-5EMNQ MEFV 4210 broad.mit.edu 37 16 3306389 3306389 + Missense_Mutation SNP C C T TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr16:3306389C>T ENST00000339854.4 - 1.0 238 c.199G>A c.(199-201)Gtg>Atg p.V67M MEFV_ENST00000541159.1_Missense_Mutation_p.V67M|MEFV_ENST00000536379.1_Missense_Mutation_p.V67M|MEFV_ENST00000219596.1_Missense_Mutation_p.V67M O15553 MEFV_HUMAN Mediterranean fever 67.0 DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}. inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056) cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634) actin binding (GO:0003779)|zinc ion binding (GO:0008270) NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50.0 GTGAGCTGCACGGCGTACTCT 0.657 0 63.0 63.0 63.0 16 3306389.0 2197.0 4300.0 6497.0 SO:0001583 missense AF018080 CCDS10498.1, CCDS55981.1 16p13.3 2014-09-17 ENSG00000103313 ENSG00000103313 4210.0 4210.0 """Tripartite motif containing / Tripartite motif containing""" 6998.0 protein-coding gene gene with protein product """pyrin""" 608107 MEF 9288094 Standard NM_000243 NM_000243 Approved FMF, TRIM20 uc002cun.1 O15553 OTTHUMG00000129324 ENST00000339854.4:c.199G>A 16.__UNKNOWN__:g.3306389C>T ENSP00000339639:p.Val67Met D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5 __UNKNOWN__ . . . . . . . . . . C 13.10 2.136955 0.37728 . . ENSG00000103313 ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868 T;T;T;T 0.52057 0.68;0.68;0.68;0.68 5.98 2.99 0.34606 Pyrin (2);DEATH-like (2); 0.497561 0.17055 N 0.188761 T 0.66257 0.2771 M 0.83953 2.67 0.09310 N 1 D 0.89917 1.0 D 0.97110 1.0 T 0.55939 -0.8061 10 0.87932 D 0 -22.6148 6.3171 0.21196 0.0:0.6907:0.1511:0.1582 . 67 O15553 MEFV_HUMAN M 67 ENSP00000219596:V67M;ENSP00000339639:V67M;ENSP00000438711:V67M;ENSP00000445079:V67M ENSP00000219596:V67M V - 1 0 MEFV 3246390 0.001000 0.12720 0.003000 0.11579 0.172000 0.22775 0.368000 0.20399 0.430000 0.26230 0.591000 0.81541 GTG MEFV-010 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000398510.1 - ENST00000339854.4 Missense_Mutation SNP PCPG-TCGA-WB-A818-Normal-SM-5EMNQ NF1 4763 broad.mit.edu 37 17 29667527 29667528 + Frame_Shift_Del DEL CG CG - TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr17:29667527_29667528delCG ENST00000358273.4 + 47.0 7309_7310 c.6926_6927delCG c.(6925-6927)tcgfs p.S2309fs NF1_ENST00000417592.2_Frame_Shift_Del_p.S22fs|NF1_ENST00000444181.2_Frame_Shift_Del_p.S102fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.S2288fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2309.0 actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060) axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634) phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099) p.0?(8)|p.?(3)|p.S2309S(1)|p.P2310fs*11(1) 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) 599.0 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) TGCCAGGACTCGCCTCTGCACA 0.441 """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) yes Rec yes Neurofibromatosis type 1 17 17q12 4763.0 neurofibromatosis type 1 gene O 13 Whole gene deletion(8)|Unknown(3)|Substitution - coding silent(1)|Insertion - Frameshift(1) soft_tissue(7)|autonomic_ganglia(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1) SO:0001589 frameshift_variant Familial Cancer Database NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome CCDS11264.1, CCDS42292.1, CCDS45645.1 17q11.2 2014-09-17 2008-07-31 ENSG00000196712 ENSG00000196712 4763.0 4763.0 7765.0 protein-coding gene gene with protein product """neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease""" 613113 1715669 Standard NM_000267 NM_000267 Approved uc002hgg.3 P21359 OTTHUMG00000132871 ENST00000358273.4:c.6926_6927delCG 17.__UNKNOWN__:g.29667527_29667528delCG ENSP00000351015:p.Ser2309fs O00662|Q14284|Q14930|Q14931|Q9UMK3 __UNKNOWN__ CCDS42292.1 NF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256351.2 + ENST00000358273.4 Frame_Shift_Del DEL PCPG-TCGA-WB-A818-Normal-SM-5EMNQ NFASC 23114 bcgsc.ca 37 1 204956620 204956620 + Missense_Mutation SNP G G A TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr1:204956620G>A ENST00000401399.1 + 21.0 2744 c.2545G>A c.(2545-2547)Gag>Aag p.E849K NFASC_ENST00000339876.6_Missense_Mutation_p.E849K|NFASC_ENST00000367170.4_Missense_Mutation_p.E956K|NFASC_ENST00000404076.1_Missense_Mutation_p.E935K|NFASC_ENST00000539706.1_Missense_Mutation_p.E952K|NFASC_ENST00000367169.4_Missense_Mutation_p.E849K|NFASC_ENST00000367171.4_Missense_Mutation_p.E941K|NFASC_ENST00000367172.4_Missense_Mutation_p.E956K|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000338586.6_Missense_Mutation_p.E956K|NFASC_ENST00000404907.1_Missense_Mutation_p.E952K|NFASC_ENST00000513543.1_Missense_Mutation_p.E952K|NFASC_ENST00000338515.6_Missense_Mutation_p.E956K|NFASC_ENST00000360049.4_Missense_Mutation_p.E952K O94856 NFASC_HUMAN neurofascin 852.0 Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}. axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226) axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81.0 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GGATCATCCTGAGCATCCAAA 0.527 0 177.0 147.0 157.0 1 204956620.0 2203.0 4300.0 6503.0 SO:0001583 missense AK027553 CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1 1q32.1 2013-02-11 2010-06-24 ENSG00000163531 ENSG00000163531 23114.0 23114.0 """Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 29866.0 protein-coding gene gene with protein product 609145 """neurofascin homolog (chicken)""" 1377696, 8672144 Standard NM_001005388 NM_015090 Approved NRCAML, KIAA0756, FLJ46866, NF uc001hbj.3 O94856 OTTHUMG00000151697 ENST00000401399.1:c.2545G>A 1.__UNKNOWN__:g.204956620G>A ENSP00000385637:p.Glu849Lys B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50 __UNKNOWN__ CCDS53460.1 . . . . . . . . . . G 0.792 -0.758601 0.03019 . . ENSG00000163531 ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393 T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.56611 0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45 5.75 4.84 0.62591 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.000000 0.51477 D 0.000082 T 0.46328 0.1387 L 0.53249 1.67 0.23933 N 0.996422 B;B;B;B;B;B;B 0.31435 0.176;0.226;0.06;0.006;0.146;0.323;0.005 B;B;B;B;B;B;B 0.34824 0.19;0.098;0.03;0.006;0.12;0.069;0.014 T 0.40270 -0.9572 10 0.05833 T 0.94 . 14.3418 0.66633 0.0718:0.0:0.9281:0.0 . 956;967;952;849;941;849;952 O94856;O94856-11;O94856-8;O94856-4;F8W791;O94856-9;O94856-3 NFASC_HUMAN;.;.;.;.;.;. K 956;941;956;956;849;956;967;952;952;849;935;849;952;952;943 ENSP00000356140:E956K;ENSP00000356139:E941K;ENSP00000356138:E956K;ENSP00000342128:E956K;ENSP00000344786:E849K;ENSP00000343509:E956K;ENSP00000438614:E952K;ENSP00000353154:E952K;ENSP00000356137:E849K;ENSP00000385676:E935K;ENSP00000385637:E849K;ENSP00000384061:E952K;ENSP00000425908:E952K;ENSP00000415031:E943K ENSP00000295776:E967K E + 1 0 NFASC 203223243 1.000000 0.71417 0.624000 0.29186 0.001000 0.01503 4.804000 0.62554 1.453000 0.47775 -0.218000 0.12543 GAG NFASC-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000131237.1 + ENST00000401399.1 Missense_Mutation SNP PCPG-TCGA-WB-A818-Normal-SM-5EMNQ GALNT7 51809 ucsc.edu 37 4 174169202 174169202 + Missense_Mutation SNP C C A TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr4:174169202C>A ENST00000265000.4 + 2.0 281 c.198C>A c.(196-198)ttC>ttA p.F66L GALNT7_ENST00000512285.1_Missense_Mutation_p.F66L NM_017423.2 NP_059119.2 Q86SF2 GALT7_HUMAN polypeptide N-acetylgalactosaminyltransferase 7 66.0 carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020) carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9) 19.0 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) AGGACAGATTCAAACCTGTGG 0.468 0 78.0 72.0 74.0 4 174169202.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ002744 CCDS3815.1 4q31.1 2014-03-13 2014-03-13 ENSG00000109586 ENSG00000109586 51809.0 51809.0 """Glycosyltransferase family 2 domain containing""" 4129.0 protein-coding gene gene with protein product """polypeptide GalNAc transferase 7""" 605005 """UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)""" 10544240 Standard NM_017423 NM_017423 Approved GALNAC-T7 uc003isz.4 Q86SF2 OTTHUMG00000160817 ENST00000265000.4:c.198C>A 4.__UNKNOWN__:g.174169202C>A ENSP00000265000:p.Phe66Leu B3KQU3|Q7Z5W7|Q9UJ28 __UNKNOWN__ CCDS3815.1 . . . . . . . . . . C 21.8 4.198857 0.79015 . . ENSG00000109586 ENST00000265000;ENST00000512285 T;T 0.57107 0.42;1.23 5.7 5.7 0.88788 . 0.484707 0.18223 U 0.147826 T 0.65386 0.2686 L 0.55481 1.735 0.58432 D 0.999997 D 0.58268 0.982 D 0.67548 0.952 T 0.57608 -0.7782 10 0.24483 T 0.36 . 14.0418 0.64681 0.0:0.9284:0.0:0.0716 . 66 Q86SF2 GALT7_HUMAN L 66 ENSP00000265000:F66L;ENSP00000427050:F66L ENSP00000265000:F66L F + 3 2 GALNT7 174405777 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 3.429000 0.52800 2.683000 0.91414 0.655000 0.94253 TTC GALNT7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000362456.2 + ENST00000265000.4 Missense_Mutation SNP PCPG-TCGA-WB-A818-Normal-SM-5EMNQ KDM4C 23081 ucsc.edu 37 9 7049110 7049110 + Silent SNP C C T TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr9:7049110C>T ENST00000381309.3 + 17.0 2899 c.2334C>T c.(2332-2334)tgC>tgT p.C778C KDM4C_ENST00000381306.3_Silent_p.C778C|KDM4C_ENST00000543771.1_Silent_p.C778C|KDM4C_ENST00000535193.1_Silent_p.C800C|KDM4C_ENST00000442236.2_Silent_p.C523C|KDM4C_ENST00000536108.1_Intron|KDM4C_ENST00000428870.2_Silent_p.C465C NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 778.0 histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nuclear chromatin (GO:0000790) androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270) 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) 43.0 ATGTCATGTGCGCCGTTGCGG 0.433 0 93.0 93.0 93.0 9 7049110.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB018323 CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1 9p24-p23 2013-01-23 2009-04-06 2009-04-06 ENSG00000107077 ENSG00000107077 23081.0 23081.0 """Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing""" 17071.0 protein-coding gene gene with protein product """tudor domain containing 14C""" 605469 """jumonji domain containing 2C""" JMJD2C 9872452, 15138608 Standard NM_015061 NM_015061 Approved GASC1, KIAA0780, TDRD14C uc003zkh.3 Q9H3R0 OTTHUMG00000019536 ENST00000381309.3:c.2334C>T 9.__UNKNOWN__:g.7049110C>T B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3 __UNKNOWN__ CCDS6471.1 KDM4C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051692.1 + ENST00000381309.3 Silent SNP PCPG-TCGA-WB-A818-Normal-SM-5EMNQ LRP2 4036 ucsc.edu 37 2 170076963 170076963 + Splice_Site SNP C C T TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr2:170076963C>T ENST00000263816.3 - 34.0 5934 c.e34+1 NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509) 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) 315.0 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) """""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)""" TGAATACTCACCCACGAGCAG 0.413 0 118.0 103.0 108.0 2 170076963.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant CCDS2232.1 2q31.1 2013-05-28 2010-01-26 ENSG00000081479 ENSG00000081479 4036.0 4036.0 """Low density lipoprotein receptors""" 6694.0 protein-coding gene gene with protein product """megalin""" 600073 7959795 Standard NM_004525 NM_004525 Approved gp330, DBS uc002ues.3 P98164 OTTHUMG00000132179 ENST00000263816.3:c.5648+1G>A 2.__UNKNOWN__:g.170076963C>T O00711|Q16215 __UNKNOWN__ CCDS2232.1 . . . . . . . . . . C 21.5 4.164908 0.78339 . . ENSG00000081479 ENST00000263816 . . . 5.87 5.87 0.94306 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 20.207 0.98280 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . LRP2 169785209 1.000000 0.71417 1.000000 0.80357 0.610000 0.37248 7.484000 0.81180 2.765000 0.95021 0.650000 0.86243 . LRP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255231.2 Intron - ENST00000263816.3 Splice_Site SNP PCPG-TCGA-WB-A818-Normal-SM-5EMNQ AGPAT2 10555 hgsc.bcm.edu 37 9 139568309 139568309 + Silent SNP G G A TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr9:139568309G>A ENST00000371696.2 - 6.0 797 c.732C>T c.(730-732)ctC>ctT p.L244L AGPAT2_ENST00000371694.3_Silent_p.L212L|AGPAT2_ENST00000538402.1_Silent_p.L244L NM_006412.3 NP_006403.2 O15120 PLCB_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 2 244.0 CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) endometrium(1)|large_intestine(1)|lung(2)|prostate(2) 6.0 all_cancers(76;0.0893)|all_epithelial(76;0.231) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) AGGTGTCCACGAGCGCAGGGA 0.682 0 G , 0,4388 0,0,2194 41.0 41.0 41.0 636,732 -6.7 0.0 9 41.0 3,8587 0,3,4292 no coding-synonymous,coding-synonymous AGPAT2 NM_001012727.1,NM_006412.3 , 0,3,6486 AA,AG,GG 0.0349,0.0,0.0231 , 212/247,244/279 139568309.0 3,12975 2194.0 4295.0 6489.0 SO:0001819 synonymous_variant AF000237 CCDS7003.1, CCDS35181.1 9q34.3 2013-02-05 2013-02-05 ENSG00000169692 ENSG00000169692 10555.0 10555.0 2.3.1.51 """1-acylglycerol-3-phosphate O-acyltransferases""" 325.0 protein-coding gene gene with protein product """LPAAT-beta"", ""lysophosphatidic acid acyltransferase, beta""" 603100 """Berardinelli-Seip congenital lipodystrophy"", ""1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)""" BSCL 9242711, 9212163 Standard NM_006412 NM_006412 Approved uc004cii.1 O15120 OTTHUMG00000020936 ENST00000371696.2:c.732C>T 9.__UNKNOWN__:g.139568309G>A O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7 __UNKNOWN__ CCDS7003.1 AGPAT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055090.1 - ENST00000371696.2 Silent SNP PCPG-TCGA-WB-A818-Normal-SM-5EMNQ CACNA1S 779 broad.mit.edu 37 1 201029810 201029810 + Silent SNP G G T rs140294191 TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr1:201029810G>T ENST00000362061.3 - 26.0 3616 c.3390C>A c.(3388-3390)ctC>ctA p.L1130L CACNA1S_ENST00000367338.3_Silent_p.L1130L NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1130.0 axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941) cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891) high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) 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) 102.0 Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661) AGATGGTGTTGAGCATGATGA 0.527 0 214.0 199.0 204.0 1 201029810.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant L33798 CCDS1407.1 1q32 2012-03-07 ENSG00000081248 ENSG00000081248 779.0 779.0 """Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels""" 1397.0 protein-coding gene gene with protein product 114208 HOKPP, MHS5, CACNL1A3 7916735, 16382099 Standard NM_000069 NM_000069 Approved Cav1.1, hypoPP uc001gvv.3 Q13698 OTTHUMG00000035784 ENST00000362061.3:c.3390C>A 1.__UNKNOWN__:g.201029810G>T A4IF51|B1ALM2|Q12896|Q13934 __UNKNOWN__ CCDS1407.1 CACNA1S-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087049.1 - ENST00000362061.3 Silent SNP PCPG-TCGA-WB-A819-Normal-SM-5EMLP PRPF8 10594 broad.mit.edu 37 17 1577856 1577856 + Missense_Mutation SNP T T C TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr17:1577856T>C ENST00000572621.1 - 20.0 3444 c.3179A>G c.(3178-3180)gAg>gGg p.E1060G PRPF8_ENST00000304992.6_Missense_Mutation_p.E1060G Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1060.0 Reverse transcriptase homology domain. gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375) catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682) poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070) 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) 77.0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CCCAGCCATCTCACTGGCCCG 0.517 0 150.0 145.0 147.0 17 1577856.0 2203.0 4300.0 6503.0 SO:0001583 missense AB007510 CCDS11010.1 17p13.3 2013-07-16 2013-06-10 ENSG00000174231 ENSG00000174231 10594.0 10594.0 17340.0 protein-coding gene gene with protein product 607300 """PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)""" RP13 11468273, 10411133 Standard NM_006445 Approved PRPC8, Prp8, hPrp8, SNRNP220 uc002fte.3 Q6P2Q9 OTTHUMG00000090553 ENST00000572621.1:c.3179A>G 17.__UNKNOWN__:g.1577856T>C ENSP00000460348:p.Glu1060Gly O14547|O75965 __UNKNOWN__ CCDS11010.1 . . . . . . . . . . T 26.1 4.708336 0.89018 . . ENSG00000174231 ENST00000304992 D 0.83075 -1.68 5.25 5.25 0.73442 RNA recognition motif, spliceosomal PrP8 (1); 0.000000 0.85682 D 0.000000 D 0.91975 0.7458 M 0.92555 3.32 0.80722 D 1 P 0.51791 0.948 P 0.59012 0.85 D 0.93853 0.7147 10 0.87932 D 0 . 15.3304 0.74203 0.0:0.0:0.0:1.0 . 1060 Q6P2Q9 PRP8_HUMAN G 1060 ENSP00000304350:E1060G ENSP00000304350:E1060G E - 2 0 PRPF8 1524606 1.000000 0.71417 1.000000 0.80357 0.938000 0.57974 7.868000 0.87116 2.212000 0.71576 0.260000 0.18958 GAG PRPF8-002 NOVEL alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000438412.2 - ENST00000572621.1 Missense_Mutation SNP PCPG-TCGA-WB-A819-Normal-SM-5EMLP SULF1 23213 broad.mit.edu 37 8 70540461 70540461 + Missense_Mutation SNP C C T TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr8:70540461C>T ENST00000260128.4 + 18.0 2815 c.2098C>T c.(2098-2100)Cac>Tac p.H700Y SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.H700Y|SULF1_ENST00000402687.4_Missense_Mutation_p.H700Y|SULF1_ENST00000458141.2_Missense_Mutation_p.H700Y NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 700.0 apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449) 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) 52.0 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GAGCCATCTTCACCCATTCAA 0.428 0 104.0 109.0 108.0 8 70540461.0 2203.0 4300.0 6503.0 SO:0001583 missense AB029000 CCDS6204.1 8q13.2 2014-09-11 ENSG00000137573 ENSG00000137573 23213.0 23213.0 20391.0 protein-coding gene gene with protein product 610012 12368295 Standard NM_015170 NM_015170 Approved KIAA1077, SULF-1 uc003xyd.2 Q8IWU6 OTTHUMG00000164466 ENST00000260128.4:c.2098C>T 8.__UNKNOWN__:g.70540461C>T ENSP00000260128:p.His700Tyr Q86YV8|Q8NCA2|Q9UPS5 __UNKNOWN__ CCDS6204.1 . . . . . . . . . . C 19.46 3.831028 0.71258 . . ENSG00000137573 ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716 T;T;T;T 0.21734 1.99;1.99;1.99;1.99 5.14 5.14 0.70334 Alkaline-phosphatase-like, core domain (1); 0.000000 0.85682 D 0.000000 T 0.30510 0.0767 M 0.79258 2.445 0.48395 D 0.99964 P 0.36330 0.548 B 0.36030 0.216 T 0.10776 -1.0615 10 0.33141 T 0.24 . 18.621 0.91321 0.0:1.0:0.0:0.0 . 700 Q8IWU6 SULF1_HUMAN Y 700 ENSP00000403040:H700Y;ENSP00000260128:H700Y;ENSP00000385704:H700Y;ENSP00000390315:H700Y ENSP00000260128:H700Y H + 1 0 SULF1 70703015 1.000000 0.71417 1.000000 0.80357 0.945000 0.59286 4.331000 0.59273 2.371000 0.80710 0.563000 0.77884 CAC SULF1-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378885.2 + ENST00000260128.4 Missense_Mutation SNP PCPG-TCGA-WB-A819-Normal-SM-5EMLP DPM1 8813 broad.mit.edu 37 20 49551759 49551759 + Silent SNP A A G TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr20:49551759A>G ENST00000371588.5 - 9.0 719 c.693T>C c.(691-693)ttT>ttC p.F231F DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371582.4_Silent_p.F258F|DPM1_ENST00000371583.5_Silent_p.F226F|RP5-914P20.5_ENST00000558899.2_RNA NM_003859.1 NP_003850.1 O60762 DPM1_HUMAN dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit 231.0 C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269) dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634) alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537) endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 7.0 CACGATCCACAAATGATATTG 0.318 0 74.0 83.0 80.0 20 49551759.0 2201.0 4294.0 6495.0 SO:0001819 synonymous_variant AF007875 CCDS13434.1 20q13.1 2013-02-26 ENSG00000000419 ENSG00000000419 8813.0 8813.0 2.4.1.83 """Glycosyltransferase family 2 domain containing""" 3005.0 protein-coding gene gene with protein product """DPM synthase complex, catalytic subunit""" 603503 9223280, 9535917 Standard NM_003859 NM_003859 Approved MPDS, CDGIE uc002xvw.1 O60762 OTTHUMG00000032742 ENST00000371588.5:c.693T>C 20.__UNKNOWN__:g.49551759A>G O15157|Q6IB78|Q96HK0 __UNKNOWN__ CCDS13434.1 . . . . . . . . . . A 1.087 -0.665324 0.03428 . . ENSG00000000419 ENST00000371584 . . . 5.42 5.42 0.78866 . . . . . T 0.71256 0.3318 . . . 0.80722 D 1 . . . . . . T 0.70615 -0.4823 4 . . . -18.8742 15.1194 0.72429 1.0:0.0:0.0:0.0 . . . . R 266 . . C - 1 0 DPM1 48985166 1.000000 0.71417 1.000000 0.80357 0.185000 0.23345 6.760000 0.74939 2.050000 0.60909 0.374000 0.22700 TGT DPM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079716.1 - ENST00000371588.5 Silent SNP PCPG-TCGA-WB-A819-Normal-SM-5EMLP BBS2 583 broad.mit.edu 37 16 56545120 56545120 + Missense_Mutation SNP T T C rs144680278 by1000genomes TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr16:56545120T>C ENST00000245157.5 - 3.0 842 c.422A>G c.(421-423)aAt>aGt p.N141S BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Missense_Mutation_p.N141S NM_031885.3 NP_114091 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 141.0 adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601) BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886) RNA polymerase II repressing transcription factor binding (GO:0001103) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3) 26.0 CAGAGCACAATTGCCACCAAT 0.398 Bardet-Biedl syndrome T 2.0 0.0009 2184.0 0.0035 1.0 , , 0.0002 0.0009 1.0 LOWCOV,EXOME 0.0003 SNP 0 126.0 109.0 115.0 16 56545120.0 2198.0 4300.0 6498.0 SO:0001583 missense Familial Cancer Database BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome AF342736 CCDS32451.1 16q21 2013-01-08 ENSG00000125124 583.0 583.0 967.0 protein-coding gene gene with protein product 606151 BBS 11285252 Standard NM_031885 NM_031885 Approved uc002ejd.2 Q9BXC9 ENST00000245157.5:c.422A>G 16.__UNKNOWN__:g.56545120T>C ENSP00000245157:p.Asn141Ser Q96CM0|Q96SN9 __UNKNOWN__ CCDS32451.1 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 T 22.4 4.289858 0.80914 . . ENSG00000125124 ENST00000245157 D 0.84873 -1.91 5.9 5.9 0.94986 WD40 repeat-like-containing domain (1); 0.081471 0.85682 D 0.000000 D 0.92267 0.7547 M 0.78456 2.415 0.58432 D 0.999996 D;D 0.89917 1.0;1.0 D;D 0.87578 0.998;0.998 D 0.92489 0.5999 10 0.52906 T 0.07 -25.8089 16.3294 0.83004 0.0:0.0:0.0:1.0 . 141;141 A8K0N9;Q9BXC9 .;BBS2_HUMAN S 141 ENSP00000245157:N141S ENSP00000245157:N141S N - 2 0 BBS2 55102621 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 6.066000 0.71185 2.259000 0.74868 0.523000 0.50628 AAT BBS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000434386.2 - ENST00000245157.5 Missense_Mutation SNP PCPG-TCGA-WB-A819-Normal-SM-5EMLP RET 5979 broad.mit.edu 37 10 43617416 43617416 + Missense_Mutation SNP T T C rs74799832 TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr10:43617416T>C ENST00000355710.3 + 16.0 2985 c.2753T>C c.(2752-2754)aTg>aCg p.M918T RET_ENST00000340058.5_Missense_Mutation_p.M918T NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 918.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. M -> T (in MEN2B and MTC; sporadic form; somatic mutation; also found in a patient with renal agenesis; dbSNP:rs74799832). {ECO:0000269|PubMed:18252215, ECO:0000269|PubMed:7906417, ECO:0000269|PubMed:7906866, ECO:0000269|PubMed:7911697, ECO:0000269|PubMed:8595427, ECO:0000269|PubMed:8807338}. activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657) endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) p.M918T(247) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607.0 Ovarian(717;0.0423) Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398) GTTAAATGGATGGCAATTGAA 0.443 1.0 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149) yes Dom yes Multiple endocrine neoplasia 2A/2B 10 10q11.2 5979.0 ret proto-oncogene yes """E, O""" 247 Substitution - Missense(247) thyroid(231)|adrenal_gland(16) GRCh37 CM941246 RET M rs74799832 262.0 244.0 250.0 10 43617416.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC BC004257 CCDS7200.1, CCDS53525.1 10q11.2 2014-09-17 2007-02-16 ENSG00000165731 ENSG00000165731 5979.0 5979.0 """Cadherins / Cadherin-related""" 9967.0 protein-coding gene gene with protein product """cadherin-related family member 16""" 164761 """multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1""" HSCR1, MEN2A, MTC1, MEN2B 2687772, 1611909 Standard NM_020975 NM_020975 Approved PTC, CDHF12, RET51, CDHR16 uc001jal.3 P07949 OTTHUMG00000018024 ENST00000355710.3:c.2753T>C 10.__UNKNOWN__:g.43617416T>C ENSP00000347942:p.Met918Thr A8K6Z2|Q15250|Q9BTB0|Q9H4A2 __UNKNOWN__ CCDS7200.1 . . . . . . . . . . T 23.5 4.427864 0.83667 . . ENSG00000165731 ENST00000355710;ENST00000340058 D;D 0.90504 -2.68;-2.68 5.43 5.43 0.79202 Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 D 0.93719 0.7993 L 0.52126 1.63 0.80722 A 1 D;D;D 0.89917 0.999;0.999;1.0 D;D;D 0.97110 0.999;1.0;1.0 D 0.94557 0.7759 9 0.87932 D 0 . 15.7766 0.78224 0.0:0.0:0.0:1.0 . 664;918;918 B4DGX8;P07949;P07949-2 .;RET_HUMAN;. T 918 ENSP00000347942:M918T;ENSP00000344798:M918T ENSP00000344798:M918T M + 2 0 RET 42937422 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 7.986000 0.88173 2.198000 0.70561 0.533000 0.62120 ATG RET-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000047694.2 + ENST00000355710.3 Missense_Mutation SNP PCPG-TCGA-WB-A819-Normal-SM-5EMLP CCBL2 56267 broad.mit.edu 37 1 89427800 89427800 + Missense_Mutation SNP C C A TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr1:89427800C>A ENST00000370491.3 - 5.0 574 c.380G>T c.(379-381)tGc>tTc p.C127F CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000260508.4_Missense_Mutation_p.C161F|CCBL2_ENST00000370485.2_3'UTR NM_001008662.2 NP_001008662.1 Q6YP21 KAT3_HUMAN cysteine conjugate-beta lyase 2 161.0 2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569) mitochondrion (GO:0005739) cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170) endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1) 18.0 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) GGGCTCATAGCAGTCATAGAA 0.378 0 124.0 113.0 117.0 1 89427800.0 2203.0 4300.0 6503.0 SO:0001583 missense AF091090 CCDS30766.1, CCDS30767.1 1p22.2 2009-06-23 ENSG00000137944 ENSG00000137944 56267.0 56267.0 33238.0 protein-coding gene gene with protein product 610656 16376499 Standard NM_001008661 NM_001008662 Approved RBM1, RP11-82K18.3, KAT3 uc001dmp.2 Q6YP21 OTTHUMG00000010617 ENST00000370491.3:c.380G>T 1.__UNKNOWN__:g.89427800C>A ENSP00000359522:p.Cys127Phe B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5 __UNKNOWN__ CCDS30767.1 . . . . . . . . . . C 26.2 4.718404 0.89205 . . ENSG00000137944 ENST00000370491;ENST00000260508;ENST00000370486 D;D;D 0.90197 -2.63;-2.63;-2.63 5.92 5.92 0.95590 Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1); 0.000000 0.85682 D 0.000000 D 0.96648 0.8906 M 0.92833 3.35 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 D 0.96719 0.9531 10 0.87932 D 0 -35.4141 20.2995 0.98608 0.0:1.0:0.0:0.0 . 161 Q6YP21 KAT3_HUMAN F 127;161;161 ENSP00000359522:C127F;ENSP00000260508:C161F;ENSP00000359517:C161F ENSP00000260508:C161F C - 2 0 CCBL2 89200388 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.176000 0.77643 2.799000 0.96334 0.655000 0.94253 TGC CCBL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000029297.2 - ENST00000370491.3 Missense_Mutation SNP PCPG-TCGA-WB-A819-Normal-SM-5EMLP SECISBP2 79048 broad.mit.edu 37 9 91972365 91972365 + Missense_Mutation SNP C C T TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr9:91972365C>T ENST00000375807.3 + 15.0 2224 c.2153C>T c.(2152-2154)gCc>gTc p.A718V SECISBP2_ENST00000339901.4_Missense_Mutation_p.A645V|SECISBP2_ENST00000534113.2_Missense_Mutation_p.A650V NM_001282688.1|NM_001282690.1|NM_024077.3 NP_001269617.1|NP_001269619.1|NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 718.0 translation (GO:0006412) mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368) 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) 32.0 ATTGATTATGCCTGTGAGCAG 0.468 0 301.0 274.0 283.0 9 91972365.0 2203.0 4300.0 6503.0 SO:0001583 missense AF380995 CCDS6683.1, CCDS65076.1, CCDS65077.1 9q22 2008-02-05 ENSG00000187742 ENSG00000187742 79048.0 79048.0 30972.0 protein-coding gene gene with protein product 607693 11230166 Standard NM_024077 XM_005252193 Approved uc004aqj.1 Q96T21 OTTHUMG00000020182 ENST00000375807.3:c.2153C>T 9.__UNKNOWN__:g.91972365C>T ENSP00000364965:p.Ala718Val F8W892|Q5HYY1|Q8IYC0|Q9H0A1 __UNKNOWN__ CCDS6683.1 . . . . . . . . . . C 22.9 4.354685 0.82243 . . ENSG00000187742 ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113 T;T;T 0.80824 -1.42;-1.42;-1.42 4.54 4.54 0.55810 Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1); 0.123631 0.64402 D 0.000019 D 0.89726 0.6798 M 0.78049 2.395 0.37452 D 0.914843 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.998;0.998;0.999 D 0.92402 0.5930 10 0.72032 D 0.01 -15.9529 17.8153 0.88630 0.0:1.0:0.0:0.0 . 725;645;718 Q59H19;Q96T21-2;Q96T21 .;.;SEBP2_HUMAN V 718;724;645;650 ENSP00000364965:A718V;ENSP00000364959:A645V;ENSP00000436650:A650V ENSP00000364959:A645V A + 2 0 SECISBP2 91162185 1.000000 0.71417 0.998000 0.56505 0.957000 0.61999 3.825000 0.55730 2.511000 0.84671 0.561000 0.74099 GCC SECISBP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052990.3 + ENST00000375807.3 Missense_Mutation SNP PCPG-TCGA-WB-A819-Normal-SM-5EMLP TBC1D3P5 0 broad.mit.edu 37 17 25748637 25748637 + RNA SNP C C A TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr17:25748637C>A ENST00000586223.1 + 0.0 554 NR_033892.1 TBC1 domain family, member 3 pseudogene 5 CTAACTCCAACATTCCTCATT 0.537 0 17q11.1 2014-03-20 ENSG00000266433 ENSG00000266433 440419.0 440419.0 43567.0 pseudogene pseudogene Standard NR_033892 NR_033892 Approved uc002gzg.3 OTTHUMG00000179156 ENST00000586223.1: 17.__UNKNOWN__:g.25748637C>A __UNKNOWN__ TBC1D3P5-003 KNOWN non_canonical_TEC|basic processed_transcript pseudogene OTTHUMT00000451073.1 + ENST00000586223.1 RNA SNP PCPG-TCGA-WB-A819-Normal-SM-5EMLP ZNF407 55628 broad.mit.edu 37 18 72776115 72776115 + Missense_Mutation SNP C C G TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr18:72776115C>G ENST00000299687.5 + 8.0 6438 c.6438C>G c.(6436-6438)atC>atG p.I2146M NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 2146.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67.0 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) CGCAGATCATCGTGACGGAGG 0.652 0 29.0 35.0 33.0 18 72776115.0 2182.0 4289.0 6471.0 SO:0001583 missense AB051490 CCDS45885.1, CCDS54191.1, CCDS58634.1 18q23 2013-01-08 ENSG00000215421 ENSG00000215421 55628.0 55628.0 """Zinc fingers, C2H2-type""" 19904.0 protein-coding gene gene with protein product 615894 11214970 Standard NM_017757 NM_017757 Approved FLJ20307, FLJ13839, KIAA1703 uc002llw.2 Q9C0G0 ENST00000299687.5:c.6438C>G 18.__UNKNOWN__:g.72776115C>G ENSP00000299687:p.Ile2146Met B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7 __UNKNOWN__ CCDS45885.1 . . . . . . . . . . C 15.37 2.813811 0.50527 . . ENSG00000215421 ENST00000299687 T 0.19669 2.13 4.67 -5.06 0.02946 . . . . . T 0.35711 0.0941 M 0.71581 2.175 0.80722 D 1 D 0.89917 1.0 D 0.77004 0.989 T 0.67688 -0.5606 9 0.87932 D 0 . 7.8148 0.29252 0.1121:0.2568:0.0:0.631 . 2146 Q9C0G0 ZN407_HUMAN M 2146 ENSP00000299687:I2146M ENSP00000299687:I2146M I + 3 3 ZNF407 70905103 0.229000 0.23729 0.621000 0.29145 0.953000 0.61014 -1.014000 0.03641 2.140000 0.66376 0.462000 0.41574 ATC ZNF407-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000444903.1 + ENST00000299687.5 Missense_Mutation SNP PCPG-TCGA-WB-A819-Normal-SM-5EMLP HEXDC 284004 broad.mit.edu 37 17 80400118 80400118 + Missense_Mutation SNP C C A TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr17:80400118C>A ENST00000327949.9 + 12.0 1330 c.1319C>A c.(1318-1320)cCg>cAg p.P440Q HEXDC_ENST00000577944.1_Silent_p.P442P|HEXDC_ENST00000337014.6_Silent_p.R470R Q8WVB3 HEXDC_HUMAN hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 440.0 carbohydrate metabolic process (GO:0005975) cytoplasm (GO:0005737)|nucleus (GO:0005634) beta-N-acetylhexosaminidase activity (GO:0004563) breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16.0 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GCTTTCTACCCGGATGCCGTG 0.667 0 23.0 26.0 25.0 17 80400118.0 2091.0 4212.0 6303.0 SO:0001583 missense AK074405 CCDS42402.1 17q25.3 2011-12-19 ENSG00000169660 ENSG00000169660 284004.0 284004.0 26307.0 protein-coding gene gene with protein product 12477932 Standard NM_173620 NM_173620 Approved FLJ23825 uc002kev.4 Q8WVB3 ENST00000327949.9:c.1319C>A 17.__UNKNOWN__:g.80400118C>A ENSP00000332634:p.Pro440Gln B7UUP6|Q8IYN4|Q8TE81 __UNKNOWN__ . . . . . . . . . . C 8.425 0.847282 0.17034 . . ENSG00000169660 ENST00000327949 T 0.29655 1.56 5.4 5.4 0.78164 . . . . . T 0.29716 0.0742 . . . 0.31883 N 0.618202 D 0.53619 0.961 P 0.46718 0.525 T 0.16571 -1.0398 8 0.25751 T 0.34 -4.7649 11.0339 0.47789 0.1431:0.7187:0.1382:0.0 . 440 Q8WVB3 HEXDC_HUMAN Q 440 ENSP00000332634:P440Q ENSP00000332634:P440Q P + 2 0 HEXDC 77993407 0.182000 0.23173 0.949000 0.38748 0.235000 0.25334 0.964000 0.29306 2.532000 0.85374 0.561000 0.74099 CCG HEXDC-003 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000443513.1 + ENST00000327949.9 Missense_Mutation SNP PCPG-TCGA-WB-A819-Normal-SM-5EMLP Unknown 0 bcgsc.ca 37 4 148380154 148380154 + RNA SNP G G C TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr4:148380154G>C MIR548G (114285 upstream) : EDNRA (21914 downstream) ATGCAGTACTGTATTCACCTC 0.483 0 SO:0001628 intergenic_variant 4.__UNKNOWN__:g.148380154G>C __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-WB-A819-Normal-SM-5EMLP MME 4311 ucsc.edu 37 3 154834290 154834290 + Silent SNP T T C TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr3:154834290T>C ENST00000460393.1 + 5.0 501 c.381T>C c.(379-381)acT>acC p.T127T MME_ENST00000492661.1_Silent_p.T127T|MME_ENST00000493237.1_Silent_p.T127T|MME_ENST00000360490.2_Silent_p.T127T|MME_ENST00000462745.1_Silent_p.T127T NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 127.0 angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233) axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021) endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270) p.T127T(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64.0 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616)|Liraglutide(DB06655) AACCCAAAACTGAAGATATAG 0.318 1 Substitution - coding silent(1) endometrium(1) 89.0 85.0 86.0 3 154834290.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS3172.1 3q25.2 2012-01-31 2007-02-21 ENSG00000196549 ENSG00000196549 4311.0 4311.0 3.4.24.11 """CD molecules""" 7154.0 protein-coding gene gene with protein product """neutral endopeptidase"", ""enkephalinase"", ""neprilysin""" 120520 Standard NM_000902 NM_007287 Approved CALLA, CD10, NEP uc003fad.1 P08473 OTTHUMG00000158455 ENST00000460393.1:c.381T>C 3.__UNKNOWN__:g.154834290T>C A8K6U6|D3DNJ9|Q3MIX4 __UNKNOWN__ CCDS3172.1 MME-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351076.1 + ENST00000460393.1 Silent SNP PCPG-TCGA-WB-A819-Normal-SM-5EMLP WDR7 23335 ucsc.edu 37 18 54339879 54339879 + Missense_Mutation SNP C C A TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr18:54339879C>A ENST00000254442.3 + 2.0 344 c.133C>A c.(133-135)Ctc>Atc p.L45I WDR7_ENST00000357574.3_Missense_Mutation_p.L45I|WDR7_ENST00000589935.1_Intron NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 45.0 hematopoietic progenitor cell differentiation (GO:0002244) 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) 78.0 Lung(128;0.0238)|Colorectal(16;0.0296) ACAAATATGTCTCTGGGATCT 0.398 0 82.0 75.0 78.0 18 54339879.0 2203.0 4300.0 6503.0 SO:0001583 missense AB011113 CCDS11962.1, CCDS11963.1 18q21.31 2013-01-09 ENSG00000091157 ENSG00000091157 23335.0 23335.0 """WD repeat domain containing""" 13490.0 protein-coding gene gene with protein product 613473 10828621 Standard XM_005266674 Approved KIAA0541, TRAG uc002lgk.1 Q9Y4E6 OTTHUMG00000132721 ENST00000254442.3:c.133C>A 18.__UNKNOWN__:g.54339879C>A ENSP00000254442:p.Leu45Ile A7E2C8|Q86UX5|Q86VP2|Q96PS7 __UNKNOWN__ CCDS11962.1 . . . . . . . . . . C 23.7 4.444918 0.83993 . . ENSG00000091157 ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311 T;T 0.60299 0.2;0.2 5.72 5.72 0.89469 WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1); 0.066421 0.64402 D 0.000008 T 0.56558 0.1993 N 0.25060 0.705 0.58432 D 0.999998 P;P 0.51351 0.944;0.767 P;P 0.52109 0.69;0.545 T 0.49790 -0.8902 10 0.23302 T 0.38 . 19.4836 0.95020 0.0:1.0:0.0:0.0 . 45;45 Q9Y4E6-2;Q9Y4E6 .;WDR7_HUMAN I 45 ENSP00000254442:L45I;ENSP00000350187:L45I ENSP00000254442:L45I L + 1 0 WDR7 52490877 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 4.316000 0.59178 2.700000 0.92200 0.563000 0.77884 CTC WDR7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256062.1 + ENST00000254442.3 Missense_Mutation SNP PCPG-TCGA-WB-A819-Normal-SM-5EMLP DLEC1 9940 broad.mit.edu 37 3 38104135 38104135 + Missense_Mutation SNP G G A TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr3:38104135G>A ENST00000308059.6 + 5.0 958 c.937G>A c.(937-939)Gac>Aac p.D313N DLEC1_ENST00000452631.2_Missense_Mutation_p.D313N|DLEC1_ENST00000346219.3_Missense_Mutation_p.D313N deleted in lung and esophageal cancer 1 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) 51.0 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GAGAGAGCTAGACAGACTTCT 0.428 0 123.0 120.0 121.0 3 38104135.0 1899.0 4133.0 6032.0 SO:0001583 missense AB020522 CCDS2672.2 3p21.3 2014-07-31 ENSG00000008226 ENSG00000008226 9940.0 9940.0 2899.0 protein-coding gene gene with protein product """cilia and flagella associated protein 81""" 604050 10213508 Standard NM_007337 XM_005265630 Approved DLC1, CFAP81 uc003chp.1 Q9Y238 OTTHUMG00000131085 ENST00000308059.6:c.937G>A 3.__UNKNOWN__:g.38104135G>A ENSP00000308597:p.Asp313Asn __UNKNOWN__ CCDS2672.2 . . . . . . . . . . G 21.5 4.157355 0.78114 . . ENSG00000008226 ENST00000308059;ENST00000346219;ENST00000452631 T;T;T 0.04862 3.57;3.54;3.79 4.97 4.97 0.65823 . 0.411475 0.26380 N 0.024702 T 0.08133 0.0203 L 0.46157 1.445 0.34206 D 0.673725 B;B;B;B 0.33583 0.264;0.418;0.288;0.418 B;B;B;B 0.32805 0.097;0.153;0.153;0.153 T 0.08659 -1.0711 10 0.66056 D 0.02 -15.9923 13.5922 0.61967 0.0:0.0:1.0:0.0 . 313;313;313;313 A1L305;F8W6T4;Q9Y238-3;Q9Y238 .;.;.;DLEC1_HUMAN N 313 ENSP00000308597:D313N;ENSP00000315914:D313N;ENSP00000410427:D313N ENSP00000308597:D313N D + 1 0 DLEC1 38079139 1.000000 0.71417 0.659000 0.29680 0.897000 0.52465 4.865000 0.62998 2.581000 0.87130 0.655000 0.94253 GAC DLEC1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000253745.3 + ENST00000308059.6 Missense_Mutation SNP PCPG-TCGA-WB-A81A-Normal-SM-5EMLJ TPTE 7179 broad.mit.edu 37 21 10934987 10934987 + Missense_Mutation SNP C C T TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr21:10934987C>T ENST00000361285.4 - 15.0 1135 c.806G>A c.(805-807)cGg>cAg p.R269Q TPTE_ENST00000298232.7_Missense_Mutation_p.R251Q|TPTE_ENST00000342420.5_Missense_Mutation_p.R231Q|TPTE_ENST00000415664.2_5'UTR NM_199261.2 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 269.0 Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}. peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) 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) 130.0 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATCTAGAAACCGCACAACTTC 0.338 0 215.0 194.0 201.0 21 10934987.0 2203.0 4300.0 6503.0 SO:0001583 missense AF007118 CCDS74771.1, CCDS74772.1, CCDS74773.1 21p11 2011-06-09 ENSG00000166157 ENSG00000274391 7179.0 7179.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs""" 12023.0 protein-coding gene gene with protein product """PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44""" 604336 10830953, 14659893 Standard NM_001290224 Approved PTEN2, CT44 uc002yip.1 P56180 OTTHUMG00000074127 ENST00000361285.4:c.806G>A 21.__UNKNOWN__:g.10934987C>T ENSP00000355208:p.Arg269Gln B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8 __UNKNOWN__ CCDS13560.2 . . . . . . . . . . . 12.55 1.970847 0.34754 . . ENSG00000166157 ENST00000298232;ENST00000361285;ENST00000342420 D;D;D 0.98617 -5.03;-5.03;-5.03 2.25 1.34 0.21922 Phosphatase tensin type (1); 0.107189 0.64402 U 0.000008 D 0.97542 0.9195 M 0.77313 2.365 0.40902 D 0.984163 D;D;P 0.55605 0.972;0.972;0.781 P;P;B 0.48400 0.576;0.576;0.389 D 0.95225 0.8337 10 0.52906 T 0.07 -10.1714 4.7758 0.13178 0.0:0.8131:0.0:0.1869 . 231;251;269 P56180-3;P56180-2;P56180 .;.;TPTE_HUMAN Q 251;269;231 ENSP00000298232:R251Q;ENSP00000355208:R269Q;ENSP00000344441:R231Q ENSP00000298232:R251Q R - 2 0 TPTE 9956858 0.995000 0.38212 0.843000 0.33291 0.148000 0.21650 3.061000 0.49963 0.517000 0.28361 0.194000 0.17425 CGG TPTE-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000157413.1 - ENST00000361285.4 Missense_Mutation SNP PCPG-TCGA-WB-A81A-Normal-SM-5EMLJ NID1 4811 broad.mit.edu 37 1 236154305 236154305 + Missense_Mutation SNP C C T TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr1:236154305C>T ENST00000264187.6 - 14.0 2891 c.2809G>A c.(2809-2811)Gtg>Atg p.V937M NID1_ENST00000366595.3_Missense_Mutation_p.V804M NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 937.0 basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811) basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394) p.V937M(1) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66.0 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Urokinase(DB00013) AAGGGGATCACGGCGGTAGGC 0.597 1 Substitution - Missense(1) prostate(1) 77.0 74.0 75.0 1 236154305.0 2203.0 4300.0 6503.0 SO:0001583 missense BC045606 CCDS1608.1 1q43 2011-05-08 2005-06-02 2005-06-02 ENSG00000116962 ENSG00000116962 4811.0 4811.0 7821.0 protein-coding gene gene with protein product 131390 """nidogen (enactin)""" NID 2471408, 7557988 Standard NM_002508 NM_002508 Approved entactin uc001hxo.3 P14543 OTTHUMG00000040071 ENST00000264187.6:c.2809G>A 1.__UNKNOWN__:g.236154305C>T ENSP00000264187:p.Val937Met Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7 __UNKNOWN__ CCDS1608.1 . . . . . . . . . . C 15.93 2.979250 0.53827 . . ENSG00000116962 ENST00000264187;ENST00000366595 D;D 0.88741 -1.78;-2.42 5.1 4.18 0.49190 . 0.495541 0.23738 N 0.045047 D 0.92743 0.7693 M 0.76574 2.34 0.09310 N 1 D;D 0.89917 0.996;1.0 P;D 0.73708 0.799;0.981 D 0.85423 0.1144 10 0.59425 D 0.04 . 8.7947 0.34872 0.0:0.7782:0.0:0.2218 . 804;937 P14543-2;P14543 .;NID1_HUMAN M 937;804 ENSP00000264187:V937M;ENSP00000355554:V804M ENSP00000264187:V937M V - 1 0 NID1 234220928 0.619000 0.27059 0.370000 0.25965 0.619000 0.37552 1.231000 0.32624 1.285000 0.44548 0.491000 0.48974 GTG NID1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000096647.2 - ENST00000264187.6 Missense_Mutation SNP PCPG-TCGA-WB-A81A-Normal-SM-5EMLJ TPPP3 51673 broad.mit.edu 37 16 67424181 67424181 + Missense_Mutation SNP C C T TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr16:67424181C>T ENST00000564104.1 - 3.0 1268 c.427G>A c.(427-429)Ggc>Agc p.G143S TPPP3_ENST00000393957.2_Missense_Mutation_p.G143S|TPPP3_ENST00000290942.5_Missense_Mutation_p.G143S|TPPP3_ENST00000562206.1_Missense_Mutation_p.G143S Q9BW30 TPPP3_HUMAN tubulin polymerization-promoting protein family member 3 143.0 microtubule bundle formation (GO:0001578) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874) tubulin binding (GO:0015631) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1) 7.0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781) TTGCCCTTGCCGCTCTCATCG 0.577 0 148.0 122.0 131.0 16 67424181.0 2198.0 4300.0 6498.0 SO:0001583 missense BC000691 CCDS10835.1 16q22.1 2008-02-05 ENSG00000159713 ENSG00000159713 51673.0 51673.0 24162.0 protein-coding gene gene with protein product 15590652, 17105200 Standard NM_015964 XM_005255979 Approved CGI-38, p25gamma, p20 uc002etb.3 Q9BW30 OTTHUMG00000137516 ENST00000564104.1:c.427G>A 16.__UNKNOWN__:g.67424181C>T ENSP00000462435:p.Gly143Ser Q49AH9|Q9Y326|Q9Y6H0 __UNKNOWN__ CCDS10835.1 . . . . . . . . . . c 32 5.188611 0.94923 . . ENSG00000159713 ENST00000393957;ENST00000290942 T;T 0.47177 0.85;0.85 4.17 4.17 0.49024 . 0.000000 0.85682 D 0.000000 T 0.76004 0.3927 M 0.93375 3.41 0.80722 D 1 D 0.76494 0.999 D 0.87578 0.998 D 0.83733 0.0199 10 0.72032 D 0.01 -6.7957 15.6513 0.77095 0.0:1.0:0.0:0.0 . 143 Q9BW30 TPPP3_HUMAN S 143 ENSP00000377529:G143S;ENSP00000290942:G143S ENSP00000290942:G143S G - 1 0 TPPP3 65981682 1.000000 0.71417 1.000000 0.80357 0.913000 0.54294 7.603000 0.82811 2.135000 0.66039 0.556000 0.70494 GGC TPPP3-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000421787.2 - ENST00000564104.1 Missense_Mutation SNP PCPG-TCGA-WB-A81A-Normal-SM-5EMLJ CLTCL1 8218 broad.mit.edu 37 22 19226895 19226895 + Missense_Mutation SNP A A G TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr22:19226895A>G ENST00000263200.10 - 5.0 770 c.698T>C c.(697-699)gTt>gCt p.V233A CLTCL1_ENST00000353891.5_Missense_Mutation_p.V233A|CLTCL1_ENST00000427926.1_Missense_Mutation_p.V233A NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 233.0 Globular terminal domain.|WD40-like repeat 5. anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165) clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802) signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198) 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) 49.0 Colorectal(54;0.0993) AGGCTGTCCAACTTCAATGAT 0.488 T ? ALCL Dom yes 22 22q11.21 8218.0 """clathrin, heavy polypeptide-like 1""" L 0 159.0 157.0 158.0 22 19226895.0 1909.0 4117.0 6026.0 SO:0001583 missense CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2 22q11.2 2008-06-10 2006-09-29 ENSG00000070371 ENSG00000070371 8218.0 8218.0 2093.0 protein-coding gene gene with protein product 601273 """clathrin, heavy polypeptide-like 1""" CLTCL 8844170, 15133132 Standard NM_007098 NM_007098 Approved CLTD, CLH22, CHC22 uc021wle.1 P53675 OTTHUMG00000150109 ENST00000263200.10:c.698T>C 22.__UNKNOWN__:g.19226895A>G ENSP00000445677:p.Val233Ala B7Z7U5|Q14017|Q15808|Q15809 __UNKNOWN__ CCDS46662.1 . . . . . . . . . . A 21.4 4.137520 0.77775 . . ENSG00000070371 ENST00000353891;ENST00000263200;ENST00000427926 T;T;T 0.26067 1.76;1.76;1.76 3.43 3.43 0.39272 Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1); 0.000000 0.64402 D 0.000015 T 0.53254 0.1785 M 0.91406 3.205 0.80722 D 1 P;P 0.45348 0.856;0.767 P;P 0.57720 0.826;0.457 T 0.63902 -0.6532 10 0.87932 D 0 -13.3594 12.0644 0.53580 1.0:0.0:0.0:0.0 . 233;233 P53675-2;P53675 .;CLH2_HUMAN A 233 ENSP00000439662:V233A;ENSP00000445677:V233A;ENSP00000441158:V233A ENSP00000445677:V233A V - 2 0 CLTCL1 17606895 1.000000 0.71417 0.994000 0.49952 0.983000 0.72400 8.159000 0.89651 1.423000 0.47198 0.482000 0.46254 GTT CLTCL1-001 KNOWN non_canonical_genome_sequence_error|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316397.5 - ENST00000263200.10 Missense_Mutation SNP PCPG-TCGA-WB-A81A-Normal-SM-5EMLJ UNC5B 219699 broad.mit.edu 37 10 73050842 73050842 + Missense_Mutation SNP G G A rs140003194 TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr10:73050842G>A ENST00000335350.6 + 9.0 1686 c.1270G>A c.(1270-1272)Gtc>Atc p.V424I UNC5B_ENST00000373192.4_Missense_Mutation_p.V413I NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 424.0 anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) p.V424I(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49.0 TTTCCACCCCGTCAACTTTAA 0.602 1 Substitution - Missense(1) ovary(1) G ILE/VAL 1,4405 2.1+/-5.4 0,1,2202 205.0 196.0 199.0 1270 3.5 0.4 10 dbSNP_134 199.0 0,8600 0,0,4300 no missense UNC5B NM_170744.4 29 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 probably-damaging 424/946 73050842.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AB096256 CCDS7309.1, CCDS58083.1 10q22.2 2013-01-11 2001-11-28 ENSG00000107731 ENSG00000107731 219699.0 219699.0 """Immunoglobulin superfamily / I-set domain containing""" 12568.0 protein-coding gene gene with protein product 607870 """unc5 (C.elegans homolog) b""" Standard NM_170744 NM_170744 Approved UNC5H2, p53RDL1 uc001jro.3 Q8IZJ1 OTTHUMG00000018422 ENST00000335350.6:c.1270G>A 10.__UNKNOWN__:g.73050842G>A ENSP00000334329:p.Val424Ile Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3 __UNKNOWN__ CCDS7309.1 . . . . . . . . . . G 17.35 3.367278 0.61513 2.27E-4 0.0 ENSG00000107731 ENST00000335350;ENST00000373192 T;T 0.52057 0.75;0.68 5.39 3.52 0.40303 . 0.181808 0.48767 D 0.000180 T 0.59985 0.2234 M 0.79693 2.465 0.53005 D 0.999966 D;D 0.67145 0.996;0.994 P;P 0.55055 0.767;0.534 T 0.59558 -0.7432 10 0.33141 T 0.24 -39.5081 10.9568 0.47362 0.0705:0.1302:0.7993:0.0 . 413;424 Q8IZJ1-2;Q8IZJ1 .;UNC5B_HUMAN I 424;413 ENSP00000334329:V424I;ENSP00000362288:V413I ENSP00000334329:V424I V + 1 0 UNC5B 72720848 1.000000 0.71417 0.428000 0.26697 0.069000 0.16628 6.753000 0.74904 0.647000 0.30713 0.655000 0.94253 GTC UNC5B-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048541.1 + ENST00000335350.6 Missense_Mutation SNP PCPG-TCGA-WB-A81A-Normal-SM-5EMLJ PPL 5493 broad.mit.edu 37 16 4933851 4933851 + Missense_Mutation SNP G G A TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr16:4933851G>A ENST00000345988.2 - 22.0 4894 c.4805C>T c.(4804-4806)gCg>gTg p.A1602V PPL_ENST00000590782.2_Missense_Mutation_p.A1600V NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 1602.0 keratinization (GO:0031424) cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) structural constituent of cytoskeleton (GO:0005200) 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) 62.0 CCCAGAGTCCGCCACGGTCAT 0.577 0 118.0 112.0 114.0 16 4933851.0 2197.0 4300.0 6497.0 SO:0001583 missense AF013717 CCDS10526.1 16p13.3 2008-02-05 ENSG00000118898 ENSG00000118898 5493.0 5493.0 9273.0 protein-coding gene gene with protein product 602871 9570964, 9521878 Standard NM_002705 NM_002705 Approved uc002cyd.1 O60437 OTTHUMG00000129528 ENST00000345988.2:c.4805C>T 16.__UNKNOWN__:g.4933851G>A ENSP00000340510:p.Ala1602Val O60314|O60454|Q14C98 __UNKNOWN__ CCDS10526.1 . . . . . . . . . . G 2.234 -0.375320 0.05034 . . ENSG00000118898 ENST00000345988 T 0.48522 0.81 5.71 -11.4 0.00090 . 1.157160 0.06254 N 0.692620 T 0.15176 0.0366 N 0.01352 -0.895 0.09310 N 1 B 0.06786 0.001 B 0.04013 0.001 T 0.45101 -0.9284 10 0.08381 T 0.77 . 15.2394 0.73455 0.8143:0.0:0.1038:0.0819 . 1602 O60437 PEPL_HUMAN V 1602 ENSP00000340510:A1602V ENSP00000340510:A1602V A - 2 0 PPL 4873852 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.247000 0.08866 -1.784000 0.01272 -0.768000 0.03414 GCG PPL-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000251715.1 - ENST00000345988.2 Missense_Mutation SNP PCPG-TCGA-WB-A81A-Normal-SM-5EMLJ LRRC37B 114659 broad.mit.edu 37 17 30348408 30348408 + Silent SNP G G A TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr17:30348408G>A ENST00000543378.2 + 4.0 335 LRRC37B_ENST00000394713.3_Silent_p.S81S|LRRC37B_ENST00000327564.7_Silent_p.S108S|LRRC37B_ENST00000584368.1_Silent_p.S93S|LRRC37B_ENST00000341671.7_Silent_p.S81S Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) p.S81S(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29.0 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) CTGCTTCTTCGCAGATGTCAG 0.597 1 Substitution - coding silent(1) prostate(1) 49.0 58.0 55.0 17 30348408.0 2202.0 4299.0 6501.0 SO:0001627 intron_variant AJ314647 CCDS32609.1 17q11.2 2006-11-29 2005-08-09 ENSG00000185158 ENSG00000185158 114659.0 114659.0 29070.0 protein-coding gene gene with protein product """KIAA0563-related""" 11468690, 10843809 Standard NM_052888 NM_052888 Approved uc002hgu.3 Q96QE4 OTTHUMG00000132785 ENST00000543378.2:c.0-4G>A 17.__UNKNOWN__:g.30348408G>A Q17RC9|Q5YKG6 __UNKNOWN__ LRRC37B-006 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000446503.1 + ENST00000543378.2 Intron SNP PCPG-TCGA-WB-A81A-Normal-SM-5EMLJ DDX18 8886 broad.mit.edu 37 2 118582524 118582524 + Silent SNP T T C TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr2:118582524T>C ENST00000263239.2 + 9.0 1343 c.1215T>C c.(1213-1215)gtT>gtC p.V405V NM_006773.3 NP_006764.3 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 405.0 Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}. ATP catabolic process (GO:0006200) membrane (GO:0016020)|nucleolus (GO:0005730) ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822) breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25.0 AGGGATATGTTGTTTGTCCTT 0.363 0 114.0 107.0 109.0 2 118582524.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X98743 CCDS2120.1 2q21.2 2008-02-05 2003-06-13 ENSG00000088205 ENSG00000088205 8886.0 8886.0 """DEAD-boxes""" 2741.0 protein-coding gene gene with protein product 606355 """DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)""" 8861962 Standard NM_006773 NM_006773 Approved MrDb uc002tlh.1 Q9NVP1 OTTHUMG00000058521 ENST00000263239.2:c.1215T>C 2.__UNKNOWN__:g.118582524T>C Q6GTZ9|Q6IAU4|Q92732|Q9BQB7 __UNKNOWN__ CCDS2120.1 DDX18-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000129632.3 + ENST00000263239.2 Silent SNP PCPG-TCGA-WB-A81A-Normal-SM-5EMLJ NT5M 56953 broad.mit.edu 37 17 17250246 17250246 + Silent SNP C C T TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr17:17250246C>T ENST00000389022.4 + 5.0 888 c.672C>T c.(670-672)agC>agT p.S224S NT5M_ENST00000582909.1_3'UTR NM_020201.3 NP_064586.1 Q9NPB1 NT5M_HUMAN 5',3'-nucleotidase, mitochondrial 224.0 dephosphorylation (GO:0016311)|DNA replication (GO:0006260)|dUMP catabolic process (GO:0046079)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) 5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|nucleotide binding (GO:0000166) endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4.0 TTCTGGACAGCAAGCGGCCCT 0.677 0 40.0 46.0 44.0 17 17250246.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF210652 CCDS32581.1 17p11.2 2007-08-01 2002-05-23 ENSG00000205309 ENSG00000205309 56953.0 56953.0 3.1.3.5 15769.0 protein-coding gene gene with protein product 605292 """5' nucleotidase, mitochondrial""" 10899995 Standard XM_005256731 Approved dNT-2, dNT2, mdN uc002grf.3 Q9NPB1 OTTHUMG00000059277 ENST00000389022.4:c.672C>T 17.__UNKNOWN__:g.17250246C>T __UNKNOWN__ CCDS32581.1 . . . . . . . . . . C 26.2 4.712962 0.89112 . . ENSG00000205309 ENST00000446264 . . . 5.79 5.79 0.91817 . 0.146323 0.64402 D 0.000013 T 0.56601 0.1996 . . . 0.35321 D 0.784736 P 0.51537 0.946 P 0.48677 0.586 T 0.70182 -0.4942 8 0.87932 D 0 -11.3931 12.0 0.53224 0.0:0.9207:0.0:0.0793 . 223 F6S3X3 . V 223 . ENSP00000390695:A223V A + 2 0 NT5M 17190971 1.000000 0.71417 1.000000 0.80357 0.664000 0.39144 3.719000 0.54926 2.728000 0.93425 0.561000 0.74099 GCA NT5M-007 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000446045.1 + ENST00000389022.4 Silent SNP PCPG-TCGA-WB-A81A-Normal-SM-5EMLJ GLYATL1 92292 broad.mit.edu 37 11 58722339 58722339 + Missense_Mutation SNP G G A rs145603117 TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr11:58722339G>A ENST00000317391.4 + 6.0 623 c.283G>A c.(283-285)Gta>Ata p.V95I GLYATL1_ENST00000300079.5_Missense_Mutation_p.V126I|RP11-142C4.6_ENST00000533954.1_RNA NM_001220494.1 NP_001207423.1 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 95.0 mitochondrion (GO:0005739) glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961) NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34.0 Glycine(DB00145) TTGTGAGATCGTAAACTGGAA 0.393 0 G ILE/VAL,ILE/VAL,ILE/VAL 0,4402 0,0,2201 72.0 69.0 70.0 283,283,376 -0.2 0.0 11 dbSNP_134 70.0 1,8589 0,1,4294 no missense,missense,missense GLYATL1 NM_001220494.1,NM_001220496.1,NM_080661.3 29,29,29 0,1,6495 AA,AG,GG 0.0116,0.0,0.0077 benign,benign,benign 95/303,95/303,126/334 58722339.0 1,12991 2201.0 4295.0 6496.0 SO:0001583 missense AK091965 CCDS31556.1, CCDS55768.1 11q12.1 2014-08-12 ENSG00000166840 ENSG00000166840 92292.0 92292.0 30519.0 protein-coding gene gene with protein product 614761 12477932 Standard NM_080661 NM_080661 Approved MGC15397, FLJ34646 uc001nnh.2 Q969I3 OTTHUMG00000167221 ENST00000317391.4:c.283G>A 11.__UNKNOWN__:g.58722339G>A ENSP00000322223:p.Val95Ile A6NDT0|Q7Z510|Q8NAW8 __UNKNOWN__ CCDS55768.1 . . . . . . . . . . . 0.013 -1.608505 0.00842 0.0 1.16E-4 ENSG00000166840 ENST00000526351;ENST00000444580;ENST00000317391;ENST00000300079 T;T;T 0.11277 2.79;2.79;2.79 2.37 -0.244 0.13031 Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1); 0.381522 0.17855 N 0.159718 T 0.01287 0.0042 N 0.00072 -2.265 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.42899 -0.9424 10 0.02654 T 1 . 4.685 0.12754 0.6639:0.0:0.3361:0.0 . 126;95 Q969I3-2;Q969I3 .;GLYL1_HUMAN I 118;72;95;126 ENSP00000434652:V118I;ENSP00000322223:V95I;ENSP00000300079:V126I ENSP00000300079:V126I V + 1 0 GLYATL1 58478915 0.580000 0.26733 0.024000 0.17045 0.086000 0.17979 1.109000 0.31135 -0.200000 0.10300 -1.373000 0.01185 GTA GLYATL1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393783.1 + ENST00000317391.4 Missense_Mutation SNP PCPG-TCGA-WB-A81A-Normal-SM-5EMLJ PPP3R2 5535 broad.mit.edu 37 9 104357180 104357180 + Silent SNP C C T TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr9:104357180C>T ENST00000374806.1 - 1.0 103 c.33G>A c.(31-33)ccG>ccA p.P11P GRIN3A_ENST00000361820.3_Intron NM_147180.2 NP_671709.1 Q96LZ3 CANB2_HUMAN protein phosphatase 3, regulatory subunit B, beta 8.0 calcium ion binding (GO:0005509) breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22.0 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) ACATCTCCGCCGGGTAACTGG 0.582 0 49.0 55.0 53.0 9 104357180.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF145026 CCDS6759.1 9q31 2013-01-10 2010-04-14 ENSG00000188386 ENSG00000188386 5535.0 5535.0 3.1.3.16 """Serine/threonine phosphatases / Protein phosphatase 3, regulatory subunits"", ""EF-hand domain containing""" 9318.0 protein-coding gene gene with protein product """protein phosphatase 3, regulatory subunit B (calcineurin B)-like"", ""calcineurin B, type II (19kDa)"", ""protein phosphatase 2B regulatory subunit 2""" 613821 """protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), beta isoform (calcineurin B, type II)"", ""protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, beta isoform (calcineurin B, type II)"", ""protein phosphatase 3 (formerly 2B), regulatory subunit B, beta isoform""" 15865209 Standard NM_147180 NM_147180 Approved PPP3RL uc004bbr.3 Q96LZ3 OTTHUMG00000020386 ENST00000374806.1:c.33G>A 9.__UNKNOWN__:g.104357180C>T Q5VTR4|Q7Z4V8|Q8WYJ4 __UNKNOWN__ CCDS6759.1 PPP3R2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053452.1 - ENST00000374806.1 Silent SNP PCPG-TCGA-WB-A81A-Normal-SM-5EMLJ OR10G8 219869 broad.mit.edu 37 11 123900690 123900690 + Missense_Mutation SNP C C T TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr11:123900690C>T ENST00000431524.1 + 1.0 394 c.361C>T c.(361-363)Cgc>Tgc p.R121C NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 121.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44.0 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) GTCCTGTGATCGCTACCTGGC 0.562 0 153.0 144.0 147.0 11 123900690.0 2201.0 4299.0 6500.0 SO:0001583 missense AB065755 CCDS31704.1 11q24.1 2012-08-09 ENSG00000234560 ENSG00000234560 219869.0 219869.0 """GPCR / Class A : Olfactory receptors""" 14845.0 protein-coding gene gene with protein product Standard NM_001004464 NM_001004464 Approved uc001pzp.1 Q8NGN5 OTTHUMG00000165968 ENST00000431524.1:c.361C>T 11.__UNKNOWN__:g.123900690C>T ENSP00000389072:p.Arg121Cys B2RNJ3|Q6IEV2 __UNKNOWN__ CCDS31704.1 . . . . . . . . . . C 17.30 3.353775 0.61293 . . ENSG00000234560 ENST00000431524 T 0.77358 -1.09 3.04 3.04 0.35103 GPCR, rhodopsin-like superfamily (1); 0.149054 0.28671 N 0.014539 D 0.87525 0.6199 M 0.85197 2.74 0.50039 D 0.999847 D 0.89917 1.0 D 0.68353 0.957 D 0.89642 0.3863 10 0.72032 D 0.01 . 13.2906 0.60269 0.0:1.0:0.0:0.0 . 121 Q8NGN5 O10G8_HUMAN C 121 ENSP00000389072:R121C ENSP00000389072:R121C R + 1 0 OR10G8 123405900 1.000000 0.71417 1.000000 0.80357 0.884000 0.51177 3.093000 0.50217 1.684000 0.51022 0.650000 0.86243 CGC OR10G8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387270.1 + ENST00000431524.1 Missense_Mutation SNP PCPG-TCGA-WB-A81A-Normal-SM-5EMLJ CPVL 54504 broad.mit.edu 37 7 29070261 29070262 + Frame_Shift_Ins INS - - T rs5883182 TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr7:29070261_29070262insT ENST00000409850.1 - 16.0 1897_1898 c.1251_1252insA c.(1249-1254)aaagttfs p.V418fs CPVL_ENST00000396276.3_Frame_Shift_Ins_p.V418fs|CPVL_ENST00000265394.5_Frame_Shift_Ins_p.V418fs Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 418.0 extracellular vesicular exosome (GO:0070062) serine-type carboxypeptidase activity (GO:0004185) p.V418fs*24(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28.0 ATCTTCCAAACTTTTTTTTCTG 0.51 1 Deletion - Frameshift(1) large_intestine(1) SO:0001589 frameshift_variant AF106704 CCDS5419.1 7p15.1 2012-02-10 ENSG00000106066 ENSG00000106066 54504.0 54504.0 14399.0 protein-coding gene gene with protein product """carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase""" 609780 11401439 Standard NM_019029 XM_005249786 Approved uc003szw.3 Q9H3G5 OTTHUMG00000023669 ENST00000409850.1:c.1252dupA 7.__UNKNOWN__:g.29070269_29070269dupT ENSP00000387164:p.Val418fs A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41 __UNKNOWN__ CCDS5419.1 CPVL-009 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000328305.1 - ENST00000409850.1 Frame_Shift_Ins INS PCPG-TCGA-WB-A81A-Normal-SM-5EMLJ Unknown 0 bcgsc.ca 37 1 192216159 192216159 + RNA SNP C C A TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr1:192216159C>A RGS18 (61214 upstream) : RGS21 (69962 downstream) GCTCAGAATCCAAACATGCAG 0.428 0 SO:0001628 intergenic_variant 1.__UNKNOWN__:g.192216159C>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-WB-A81A-Normal-SM-5EMLJ EEPD1 80820 ucsc.edu 37 7 36194774 36194774 + Missense_Mutation SNP G G A TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr7:36194774G>A ENST00000242108.4 + 2.0 1559 c.841G>A c.(841-843)Gtg>Atg p.V281M EEPD1_ENST00000534978.1_Missense_Mutation_p.V281M NM_030636.2 NP_085139.2 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family domain containing 1 281.0 DNA repair (GO:0006281) DNA binding (GO:0003677) endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18.0 CAACCCCGGGGTGCGAGAGGT 0.597 0 53.0 48.0 50.0 7 36194774.0 2203.0 4300.0 6503.0 SO:0001583 missense AK027386 CCDS34619.1 7p14.2 2007-12-07 2007-12-07 ENSG00000122547 ENSG00000122547 80820.0 80820.0 22223.0 protein-coding gene gene with protein product Standard NM_030636 NM_030636 Approved KIAA1706 uc003tfa.3 Q7L9B9 OTTHUMG00000154904 ENST00000242108.4:c.841G>A 7.__UNKNOWN__:g.36194774G>A ENSP00000242108:p.Val281Met Q96K64|Q9C0F7 __UNKNOWN__ CCDS34619.1 . . . . . . . . . . G 23.9 4.465389 0.84425 . . ENSG00000122547 ENST00000242108;ENST00000534978 T;T 0.36699 1.24;1.24 5.37 5.37 0.77165 Endonuclease/exonuclease/phosphatase (2); 0.000000 0.85682 D 0.000000 T 0.59142 0.2172 M 0.61703 1.905 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.61603 -0.7029 10 0.87932 D 0 -24.234 17.3038 0.87189 0.0:0.0:1.0:0.0 . 281 Q7L9B9 EEPD1_HUMAN M 281 ENSP00000242108:V281M;ENSP00000442692:V281M ENSP00000242108:V281M V + 1 0 EEPD1 36161299 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 9.827000 0.99397 2.515000 0.84797 0.655000 0.94253 GTG EEPD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337602.1 + ENST00000242108.4 Missense_Mutation SNP PCPG-TCGA-WB-A81A-Normal-SM-5EMLJ KCNE4 23704 ucsc.edu 37 2 223917994 223917994 + Missense_Mutation SNP A A G TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr2:223917994A>G ENST00000281830.3 + 2.0 930 c.599A>G c.(598-600)gAg>gGg p.E200G KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Missense_Mutation_p.E149G Q8WWG9 KCNE4_HUMAN potassium voltage-gated channel, Isk-related family, member 4 200.0 apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021) voltage-gated potassium channel activity (GO:0005249) large_intestine(2)|lung(5)|ovary(2)|skin(1) 10.0 Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175) Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008) GAGCTGGAGGAGACCTCGGAG 0.637 0 35.0 40.0 38.0 2 223917994.0 2203.0 4299.0 6502.0 SO:0001583 missense AY065987 CCDS2456.1, CCDS2456.2 2q36.1 2008-02-05 ENSG00000152049 ENSG00000152049 23704.0 23704.0 """Potassium channels""" 6244.0 protein-coding gene gene with protein product 607775 10219239, 12670483 Standard NM_080671 NM_080671 Approved MiRP3 uc002vnl.5 Q8WWG9 OTTHUMG00000133161 ENST00000281830.3:c.599A>G 2.__UNKNOWN__:g.223917994A>G ENSP00000281830:p.Glu200Gly B7Z275|Q53SM4|Q96CC4 __UNKNOWN__ . . . . . . . . . . A 33 5.288339 0.95517 . . ENSG00000152049 ENST00000281830 . . . 6.17 6.17 0.99709 . 0.000000 0.85682 D 0.000000 T 0.52773 0.1755 N 0.19112 0.55 0.53005 D 0.99996 D 0.67145 0.996 P 0.54815 0.761 T 0.54153 -0.8336 9 0.44086 T 0.13 -18.8778 16.8222 0.85835 1.0:0.0:0.0:0.0 . 149 Q8WWG9 KCNE4_HUMAN G 149 . ENSP00000281830:E149G E + 2 0 KCNE4 223626238 1.000000 0.71417 1.000000 0.80357 0.923000 0.55619 6.644000 0.74338 2.371000 0.80710 0.533000 0.62120 GAG KCNE4-001 KNOWN basic protein_coding protein_coding OTTHUMT00000330997.2 + ENST00000281830.3 Missense_Mutation SNP PCPG-TCGA-WB-A81A-Normal-SM-5EMLJ TSC2 7249 broad.mit.edu 37 16 2131703 2131703 + Missense_Mutation SNP C C T rs137854353 TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr16:2131703C>T ENST00000219476.3 + 31.0 4348 c.3718C>T c.(3718-3720)Cgc>Tgc p.R1240C TSC2_ENST00000353929.4_Missense_Mutation_p.R1197C|TSC2_ENST00000382538.6_Missense_Mutation_p.R1148C|TSC2_ENST00000401874.2_Missense_Mutation_p.R1196C|TSC2_ENST00000568454.1_Missense_Mutation_p.R1207C|TSC2_ENST00000350773.4_Missense_Mutation_p.R1240C|TSC2_ENST00000439673.2_Missense_Mutation_p.R1160C NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 1240.0 R -> W (in TSC2). {ECO:0000269|PubMed:8824881}. acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192) caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596) GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56.0 Hepatocellular(780;0.0202) GGCGGCTGAGCGCTTCAAGGA 0.627 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis yes Rec Tuberous sclerosis 2 16 16p13.3 7249.0 tuberous sclerosis 2 gene """E, O""" 0 75.0 62.0 67.0 16 2131703.0 2198.0 4299.0 6497.0 SO:0001583 missense Familial Cancer Database TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease AB014460 CCDS10458.1, CCDS45384.1, CCDS58408.1 16p13.3 2014-09-17 ENSG00000103197 ENSG00000103197 7249.0 7249.0 12363.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 160""" 191092 TSC4 1303246, 7558029 Standard NM_000548 NM_001077183 Approved tuberin, LAM, PPP1R160 uc002con.3 P49815 OTTHUMG00000128745 ENST00000219476.3:c.3718C>T 16.__UNKNOWN__:g.2131703C>T ENSP00000219476:p.Arg1240Cys A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1 __UNKNOWN__ CCDS10458.1 . . . . . . . . . . C 21.4 4.142197 0.77775 . . ENSG00000103197 ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773 D;D;D;D;D 0.90261 -2.56;-2.59;-2.64;-2.62;-2.54 4.7 4.7 0.59300 . 0.193367 0.44285 D 0.000476 D 0.93539 0.7938 L 0.57536 1.79 0.58432 D 0.999998 D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D 0.85130 0.943;0.975;0.983;0.975;0.997;0.988 D 0.93512 0.6854 10 0.54805 T 0.06 -29.1426 12.7331 0.57208 0.1643:0.8357:0.0:0.0 . 1148;1160;1240;1196;1196;1240 B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815 .;.;.;.;.;TSC2_HUMAN C 1240;1197;1197;1160;1148;1240 ENSP00000219476:R1240C;ENSP00000248099:R1197C;ENSP00000399232:R1160C;ENSP00000371978:R1148C;ENSP00000344383:R1240C ENSP00000219476:R1240C R + 1 0 TSC2 2071704 1.000000 0.71417 1.000000 0.80357 0.908000 0.53690 4.493000 0.60341 2.174000 0.68829 0.561000 0.74099 CGC TSC2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000250657.2 + ENST00000219476.3 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI ATP8B1 5205 broad.mit.edu 37 18 55338716 55338716 + Missense_Mutation SNP G G C TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr18:55338716G>C ENST00000283684.4 - 16.0 1915 c.1916C>G c.(1915-1917)aCa>aGa p.T639R RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.T639R O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 639.0 bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420) ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53.0 Colorectal(73;0.229) GGCATCCTGTGTTTCTTGCTT 0.398 0 159.0 137.0 144.0 18 55338716.0 2203.0 4300.0 6503.0 SO:0001583 missense AF038007 CCDS11965.1 18q21 2010-04-28 2010-04-28 ENSG00000081923 ENSG00000081923 5205.0 5205.0 """ATPases / P-type""" 3706.0 protein-coding gene gene with protein product 602397 """ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1""" FIC1, BRIC, PFIC1 9500542, 7655458 Standard NM_005603 NM_005603 Approved ATPIC, PFIC uc002lgw.3 O43520 OTTHUMG00000132739 ENST00000283684.4:c.1916C>G 18.__UNKNOWN__:g.55338716G>C ENSP00000283684:p.Thr639Arg Q9BTP8 __UNKNOWN__ CCDS11965.1 . . . . . . . . . . G 26.3 4.720450 0.89205 . . ENSG00000081923 ENST00000283684;ENST00000536015 T;T 0.70282 -0.47;-0.47 5.73 5.73 0.89815 ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1); 0.049574 0.85682 D 0.000000 D 0.90212 0.6940 H 0.96861 3.895 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.92939 0.6370 10 0.87932 D 0 . 19.5004 0.95091 0.0:0.0:1.0:0.0 . 639 O43520 AT8B1_HUMAN R 639 ENSP00000283684:T639R;ENSP00000445359:T639R ENSP00000283684:T639R T - 2 0 ATP8B1 53489714 1.000000 0.71417 0.985000 0.45067 0.987000 0.75469 9.685000 0.98661 2.698000 0.92095 0.655000 0.94253 ACA ATP8B1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256097.1 - ENST00000283684.4 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI RHOBTB1 9886 broad.mit.edu 37 10 62648781 62648781 + Silent SNP T T C TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr10:62648781T>C ENST00000337910.5 - 6.0 982 c.645A>G c.(643-645)caA>caG p.Q215Q RHOBTB1_ENST00000357917.4_Silent_p.Q215Q NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 215.0 regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|plasma membrane (GO:0005886) GTP binding (GO:0005525) endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23.0 Prostate(12;0.0112) ATTTCCAGAATTGCAGGTGCC 0.478 0 168.0 179.0 176.0 10 62648781.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB018283 CCDS7261.1 10q22.1 2013-01-08 ENSG00000072422 ENSG00000072422 9886.0 9886.0 """BTB/POZ domain containing""" 18738.0 protein-coding gene gene with protein product 607351 11222756 Standard NM_014836 Approved KIAA0740 uc001jlh.3 O94844 OTTHUMG00000018292 ENST00000337910.5:c.645A>G 10.__UNKNOWN__:g.62648781T>C __UNKNOWN__ CCDS7261.1 RHOBTB1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048220.1 - ENST00000337910.5 Silent SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI TVP23C-CDRT4 0 broad.mit.edu 37 17 15457141 15457141 + Missense_Mutation SNP T T A TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr17:15457141T>A ENST00000522212.2 - 3.0 210 c.98A>T c.(97-99)cAt>cTt p.H33L TVP23C_ENST00000225576.3_Missense_Mutation_p.H33L|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000518321.1_Missense_Mutation_p.H33L|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Missense_Mutation_p.H33L|TVP23C_ENST00000428082.2_Missense_Mutation_p.H33L NM_001204478.1 NP_001191407.1 TVP23C-CDRT4 readthrough TGCTACTGGATGTCTGAAAAC 0.378 0 187.0 182.0 184.0 17 15457141.0 2203.0 4297.0 6500.0 SO:0001583 missense CCDS56021.1 17p12 2012-11-29 2012-11-29 2012-11-29 ENSG00000259024 ENSG00000259024 100533496.0 100533496.0 42961.0 other readthrough """FAM18B2-CDRT4 readthrough""" FAM18B2-CDRT4 Standard NM_001204478 Approved OTTHUMG00000165004 ENST00000522212.2:c.98A>T 17.__UNKNOWN__:g.15457141T>A ENSP00000429865:p.His33Leu __UNKNOWN__ CCDS56021.1 . . . . . . . . . . . 24.2 4.502748 0.85176 . . ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106 ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826 T;T;T;T 0.52526 0.66;0.66;0.66;0.66 4.47 4.47 0.54385 . 0.000000 0.85682 D 0.000000 T 0.71384 0.3333 M 0.89968 3.075 0.80722 D 1 P;P;D 0.56746 0.939;0.939;0.977 P;P;D 0.65233 0.856;0.783;0.933 T 0.78497 -0.2181 10 0.87932 D 0 . 13.018 0.58768 0.0:0.0:0.0:1.0 . 33;33;33 Q96ET8-2;Q96ET8-3;Q96ET8 .;.;F18B2_HUMAN L 33 ENSP00000429865:H33L;ENSP00000225576:H33L;ENSP00000406387:H33L;ENSP00000413355:H33L ENSP00000225576:H33L H - 2 0 RP11-726O12.1;FAM18B2 15397866 1.000000 0.71417 0.998000 0.56505 0.903000 0.53119 7.924000 0.87555 1.788000 0.52465 0.443000 0.29094 CAT TVP23C-CDRT4-001 PUTATIVE non_canonical_other|basic|appris_principal|readthrough_transcript|CCDS protein_coding protein_coding OTTHUMT00000413531.1 - ENST00000522212.2 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI FNDC1 84624 broad.mit.edu 37 6 159647583 159647583 + Missense_Mutation SNP C C T TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr6:159647583C>T ENST00000297267.9 + 9.0 1351 c.1151C>T c.(1150-1152)gCg>gTg p.A384V FNDC1_ENST00000340366.6_Missense_Mutation_p.A384V|FNDC1_ENST00000480856.1_3'UTR NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 384.0 Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}. cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223) cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886) 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) 93.0 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) TCTTGGGATGCGCTACCAGAG 0.473 0 C VAL/ALA 0,3824 0,0,1912 100.0 96.0 98.0 1151 4.4 0.0 6 98.0 1,8257 0,1,4128 yes missense FNDC1 NM_032532.2 64 0,1,6040 TT,TC,CC 0.0121,0.0,0.0083 probably-damaging 384/1895 159647583.0 1,12081 1912.0 4129.0 6041.0 SO:0001583 missense AB058769 CCDS47512.1 6q25 2013-02-11 ENSG00000164694 ENSG00000164694 84624.0 84624.0 """Fibronectin type III domain containing""" 21184.0 protein-coding gene gene with protein product 609991 """fibronectin type III domain containing 2""" FNDC2 11347906 Standard NM_032532 NM_032532 Approved bA243O10.1, KIAA1866, dJ322A24.1 uc010kjv.3 Q4ZHG4 OTTHUMG00000015927 ENST00000297267.9:c.1151C>T 6.__UNKNOWN__:g.159647583C>T ENSP00000297267:p.Ala384Val A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1 __UNKNOWN__ CCDS47512.1 . . . . . . . . . . C 15.62 2.886221 0.51908 0.0 1.21E-4 ENSG00000164694 ENST00000297267;ENST00000340366 T;T 0.58940 0.3;4.01 5.3 4.42 0.53409 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.279587 0.34777 N 0.003696 T 0.41442 0.1159 L 0.50333 1.59 0.23577 N 0.997376 P;D 0.53462 0.951;0.96 P;P 0.48704 0.451;0.587 T 0.28522 -1.0041 10 0.49607 T 0.09 -5.1754 9.4985 0.39004 0.1408:0.7865:0.0:0.0726 . 384;384 Q4ZHG4-2;Q4ZHG4 .;FNDC1_HUMAN V 384 ENSP00000297267:A384V;ENSP00000342460:A384V ENSP00000297267:A384V A + 2 0 FNDC1 159567571 0.571000 0.26659 0.001000 0.08648 0.739000 0.42172 3.165000 0.50778 1.362000 0.46000 0.655000 0.94253 GCG FNDC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042897.3 + ENST00000297267.9 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI CEACAM4 1089 broad.mit.edu 37 19 42132119 42132119 + Missense_Mutation SNP C C T TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr19:42132119C>T ENST00000221954.2 - 2.0 390 c.280G>A c.(280-282)Gca>Aca p.A94T CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T NM_001817.2 NP_001808.2 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 94.0 Ig-like V-type. integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) p.A94T(1) NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16.0 CCACTGTATGCGGCCCCTGGG 0.488 1 Substitution - Missense(1) lung(1) 166.0 157.0 160.0 19 42132119.0 2203.0 4300.0 6503.0 SO:0001583 missense D90276 CCDS33033.1 19q13.2 2013-01-11 ENSG00000105352 ENSG00000105352 1089.0 1089.0 """Immunoglobulin superfamily / V-set domain containing""" 1816.0 protein-coding gene gene with protein product CGM7 2050678 Standard NM_001817 XM_005258434 Approved uc002orh.1 O75871 OTTHUMG00000151065 ENST00000221954.2:c.280G>A 19.__UNKNOWN__:g.42132119C>T ENSP00000221954:p.Ala94Thr Q03715|Q7LDZ7 __UNKNOWN__ CCDS33033.1 . . . . . . . . . . C 14.79 2.639939 0.47153 . . ENSG00000105352 ENST00000221954 T 0.66280 -0.2 1.76 1.76 0.24704 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); . . . . T 0.76278 0.3965 M 0.84219 2.685 0.09310 N 1 D;D 0.89917 0.997;1.0 D;D 0.73380 0.921;0.98 T 0.61207 -0.7109 9 0.66056 D 0.02 . 6.9535 0.24558 0.0:1.0:0.0:0.0 . 94;94 E7EMX3;O75871 .;CEAM4_HUMAN T 94 ENSP00000221954:A94T ENSP00000221954:A94T A - 1 0 CEACAM4 46823959 0.000000 0.05858 0.009000 0.14445 0.015000 0.08874 0.618000 0.24373 1.281000 0.44480 0.205000 0.17691 GCA CEACAM4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000321148.1 - ENST00000221954.2 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI RBMX 27316 broad.mit.edu 37 X 135961213 135961213 + Missense_Mutation SNP G G T TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chrX:135961213G>T ENST00000320676.7 - 3.0 333 c.179C>A c.(178-180)gCa>gAa p.A60E RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000562646.1_Missense_Mutation_p.A60E|RBMX_ENST00000431446.3_Missense_Mutation_p.A60E|RBMX_ENST00000565438.1_Intron NM_002139.3 NP_002130.2 P38159 RBMX_HUMAN RNA binding motif protein, X-linked 60.0 RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}. cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366) catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530) chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) 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) 33.0 Acute lymphoblastic leukemia(192;0.000127) CTTAGCGTCTGCTGGGCTTTC 0.383 0 155.0 133.0 140.0 X 135961213.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS14661.1, CCDS55510.1 Xq26 2013-05-23 2003-09-12 ENSG00000147274 ENSG00000147274 27316.0 27316.0 """RNA binding motif (RRM) containing""" 9910.0 protein-coding gene gene with protein product """heterogeneous nuclear ribonucleoprotein G""" 300199 """RNA binding motif protein, X chromosome""" 10391206, 10391207 Standard NM_002139 NM_002139 Approved RNMX, hnRNP-G, HNRNPG uc004fae.2 P38159 OTTHUMG00000022517 ENST00000320676.7:c.179C>A X.__UNKNOWN__:g.135961213G>T ENSP00000359645:p.Ala60Glu B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3 __UNKNOWN__ CCDS14661.1 . . . . . . . . . . . 4.649 0.120559 0.08881 . . ENSG00000147274 ENST00000431446;ENST00000320676;ENST00000449161 D;D 0.83506 -1.73;-1.73 4.57 3.71 0.42584 Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3); 0.232870 0.33834 U 0.004510 T 0.64461 0.2600 N 0.02865 -0.47 0.80722 D 1 B;B;B 0.23185 0.081;0.005;0.001 B;B;B 0.31869 0.137;0.01;0.005 T 0.56492 -0.7970 10 0.32370 T 0.25 . 9.3856 0.38340 0.0:0.1534:0.684:0.1626 . 60;60;47 B4E3U4;P38159;Q8N8Y7 .;HNRPG_HUMAN;. E 60;60;47 ENSP00000411989:A60E;ENSP00000359645:A60E ENSP00000359645:A60E A - 2 0 RBMX 135788879 1.000000 0.71417 1.000000 0.80357 0.966000 0.64601 5.164000 0.64954 0.746000 0.32786 -0.282000 0.10007 GCA RBMX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058507.1 - ENST00000320676.7 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI DIRC2 84925 broad.mit.edu 37 3 122545710 122545710 + Silent SNP A A G TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr3:122545710A>G ENST00000261038.5 + 3.0 899 c.501A>G c.(499-501)ccA>ccG p.P167P NM_032839.2 NP_116228.1 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 167.0 transport (GO:0006810) integral component of membrane (GO:0016021)|lysosome (GO:0005764) endometrium(2)|large_intestine(1)|lung(14)|prostate(1) 18.0 GBM - Glioblastoma multiforme(114;0.0614) ATGCAGCACCATTTCTCTCTA 0.413 0 129.0 128.0 128.0 3 122545710.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK027690 CCDS3018.1 3q21.1 2013-05-22 ENSG00000138463 ENSG00000138463 84925.0 84925.0 """Solute carriers""" 16628.0 protein-coding gene gene with protein product """renal cell carcinoma 4"", ""disrupted in renal cancer protein 2""" 602773 11912179 Standard NM_032839 NM_032839 Approved FLJ14784, RCC4 uc003efw.4 Q96SL1 OTTHUMG00000159553 ENST00000261038.5:c.501A>G 3.__UNKNOWN__:g.122545710A>G A8K561|Q8NBX9 __UNKNOWN__ CCDS3018.1 DIRC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356180.2 + ENST00000261038.5 Silent SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI RBP4 5950 broad.mit.edu 37 10 95360770 95360770 + Missense_Mutation SNP C C T TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr10:95360770C>T ENST00000371467.1 - 2.0 335 c.16G>A c.(16-18)Gcg>Acg p.A6T FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371469.2_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.A6T P02753 RET4_HUMAN retinol binding protein 4, plasma 6.0 cardiac muscle tissue development (GO:0048738)|detection of light stimulus involved in visual perception (GO:0050908)|embryonic organ morphogenesis (GO:0048562)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic skeletal system development (GO:0048706)|eye development (GO:0001654)|female genitalia morphogenesis (GO:0048807)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|lung development (GO:0030324)|maintenance of gastrointestinal epithelium (GO:0030277)|male gonad development (GO:0008584)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|phototransduction, visible light (GO:0007603)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of insulin secretion (GO:0032024)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to retinoic acid (GO:0032526)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|retinol transport (GO:0034633)|spermatogenesis (GO:0007283)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068) cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234) retinal binding (GO:0016918)|retinol binding (GO:0019841)|retinol transporter activity (GO:0034632) large_intestine(1)|lung(3)|skin(1) 5.0 Colorectal(252;0.122) Vitamin A(DB00162) AGCAAGAGCGCCCACACCCAC 0.697 Pancreas(5;160 256 1117 46697 50185) 0 25.0 29.0 28.0 10 95360770.0 2164.0 4236.0 6400.0 SO:0001583 missense BC020633 CCDS31249.1 10q23.33 2014-01-22 2001-11-28 ENSG00000138207 ENSG00000138207 5950.0 5950.0 """Lipocalins""" 9922.0 protein-coding gene gene with protein product 180250 """retinol-binding protein 4, plasma""" Standard NM_006744 XM_005270023 Approved uc001kit.3 P02753 OTTHUMG00000018773 ENST00000371467.1:c.16G>A 10.__UNKNOWN__:g.95360770C>T ENSP00000360522:p.Ala6Thr D3DR38|O43478|O43479|Q5VY24|Q8WWA3|Q9P178 __UNKNOWN__ CCDS31249.1 . . . . . . . . . . C 15.64 2.892425 0.52121 . . ENSG00000138207 ENST00000371464;ENST00000371467 T;T 0.72725 -0.68;-0.68 4.79 4.79 0.61399 . 0.647217 0.16610 N 0.206946 T 0.60818 0.2298 L 0.36672 1.1 0.27791 N 0.942836 B 0.20550 0.046 B 0.15870 0.014 T 0.50508 -0.8820 10 0.24483 T 0.36 -12.1705 14.6363 0.68692 0.0:0.8429:0.1571:0.0 . 6 P02753 RET4_HUMAN T 6 ENSP00000360519:A6T;ENSP00000360522:A6T ENSP00000360519:A6T A - 1 0 RBP4 95350760 1.000000 0.71417 1.000000 0.80357 0.581000 0.36288 1.337000 0.33862 2.209000 0.71365 0.449000 0.29647 GCG RBP4-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049431.1 - ENST00000371467.1 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI CACNA1H 8912 broad.mit.edu 37 16 1261233 1261233 + Missense_Mutation SNP T T C TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr16:1261233T>C ENST00000565831.1 + 21.0 4289 c.4289T>C c.(4288-4290)aTt>aCt p.I1430T CACNA1H_ENST00000348261.5_Missense_Mutation_p.I1430T|CACNA1H_ENST00000358590.4_Missense_Mutation_p.I1430T O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1430.0 aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810) caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891) low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110) breast(4)|endometrium(5)|kidney(2)|lung(23) 34.0 Hepatocellular(780;0.00369) Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909) CTCAGGCCCATTGGGAACATC 0.602 0 107.0 122.0 117.0 16 1261233.0 2168.0 4253.0 6421.0 SO:0001583 missense AL031703 CCDS45375.1, CCDS45376.1 16p13.3 2012-03-07 2007-02-16 8912.0 8912.0 """Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels""" 1395.0 protein-coding gene gene with protein product 607904 9670923, 16382099 Standard NM_001005407 NM_021098 Approved Cav3.2 uc002cks.3 O95180 ENST00000565831.1:c.4289T>C 16.__UNKNOWN__:g.1261233T>C ENSP00000455840:p.Ile1430Thr B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5 __UNKNOWN__ CCDS45376.1 . . . . . . . . . . T 19.76 3.886908 0.72410 . . ENSG00000196557 ENST00000348261;ENST00000358590 D;D 0.98849 -5.18;-5.18 4.35 4.35 0.52113 Ion transport (1); 0.000000 0.85682 D 0.000000 D 0.99208 0.9725 M 0.91459 3.21 0.53005 D 0.999965 D;D;D;P;D 0.89917 1.0;1.0;1.0;0.938;0.998 D;D;D;D;D 0.87578 0.998;0.998;0.998;0.991;0.995 D 0.99123 1.0850 10 0.87932 D 0 . 13.1374 0.59417 0.0:0.0:0.0:1.0 . 171;171;171;1430;1430 A2SX38;A2SX35;A2SX37;O95180-2;O95180 .;.;.;.;CAC1H_HUMAN T 1430 ENSP00000334198:I1430T;ENSP00000351401:I1430T ENSP00000334198:I1430T I + 2 0 CACNA1H 1201234 1.000000 0.71417 0.996000 0.52242 0.567000 0.35839 7.607000 0.82883 1.953000 0.56701 0.402000 0.26972 ATT CACNA1H-002 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000421602.2 + ENST00000565831.1 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI POTEC 388468 broad.mit.edu 37 18 14542693 14542693 + Silent SNP C C T TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr18:14542693C>T ENST00000358970.5 - 1.0 452 c.453G>A c.(451-453)aaG>aaA p.K151K POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 151.0 p.K151K(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52.0 TTCTGGGGACCTTACCCCACC 0.592 2 Substitution - coding silent(2) lung(1)|endometrium(1) 172.0 158.0 163.0 18 14542693.0 692.0 1591.0 2283.0 SO:0001819 synonymous_variant BX649118 CCDS45835.1 18p11.21 2013-01-10 2008-11-26 2008-11-26 ENSG00000183206 ENSG00000183206 388468.0 388468.0 """POTE ankyrin domain containing"", ""Ankyrin repeat domain containing""" 33894.0 protein-coding gene gene with protein product """cancer/testis antigen family 104, member 6""" """ANKRD26-like family B, member 2""" A26B2 Standard XM_496269 NM_001137671 Approved POTE18, POTE-18, DKFZp686J0529, CT104.6 uc010dln.3 B2RU33 OTTHUMG00000162963 ENST00000358970.5:c.453G>A 18.__UNKNOWN__:g.14542693C>T __UNKNOWN__ CCDS45835.1 POTEC-002 KNOWN not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000371179.1 - ENST00000358970.5 Silent SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI CHMP4B 128866 broad.mit.edu 37 20 32436406 32436406 + Missense_Mutation SNP C C G TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr20:32436406C>G ENST00000217402.2 + 2.0 489 c.324C>G c.(322-324)aaC>aaG p.N108K NM_176812.4 NP_789782.1 Q9H444 CHM4B_HUMAN charged multivesicular body protein 4B 108.0 endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634) identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13.0 TGCTCAAGAACATGGGCTATG 0.602 0 118.0 74.0 89.0 20 32436406.0 2203.0 4300.0 6503.0 SO:0001583 missense AL050349 CCDS13228.1 20q11.22 2011-09-21 2011-09-21 2005-04-04 ENSG00000101421 ENSG00000101421 128866.0 128866.0 """Charged multivesicular body proteins""" 16171.0 protein-coding gene gene with protein product 610897 """chromosome 20 open reading frame 178"", ""chromatin modifying protein 4B""" C20orf178 14678797 Standard NM_176812 Approved dJ553F4.4, Shax1, SNF7-2, VPS32B uc002xaa.3 Q9H444 OTTHUMG00000032272 ENST00000217402.2:c.324C>G 20.__UNKNOWN__:g.32436406C>G ENSP00000217402:p.Asn108Lys E1P5N4|Q53ZD6 __UNKNOWN__ CCDS13228.1 . . . . . . . . . . C 21.5 4.163922 0.78226 . . ENSG00000101421 ENST00000217402 T 0.71579 -0.58 5.46 5.46 0.80206 . 0.000000 0.85682 D 0.000000 T 0.80470 0.4629 M 0.83692 2.655 0.58432 D 0.999995 P 0.42993 0.797 P 0.52424 0.698 T 0.81682 -0.0822 10 0.51188 T 0.08 -24.22 12.2451 0.54566 0.0:0.8775:0.0:0.1225 . 108 Q9H444 CHM4B_HUMAN K 108 ENSP00000217402:N108K ENSP00000217402:N108K N + 3 2 CHMP4B 31900067 0.998000 0.40836 1.000000 0.80357 0.997000 0.91878 0.611000 0.24268 2.570000 0.86706 0.467000 0.42956 AAC CHMP4B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078738.2 + ENST00000217402.2 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI CHL1 10752 broad.mit.edu 37 3 382547 382547 + Silent SNP A A G rs146408628 TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr3:382547A>G ENST00000256509.2 + 6.0 1098 c.456A>G c.(454-456)ccA>ccG p.P152P CHL1_ENST00000397491.2_Silent_p.P152P NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 Q96FC9 DDX11_HUMAN cell adhesion molecule L1-like 0.0 Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}. activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032) midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922) 4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697) 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) 93.0 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) TTGTCCTCCCATGCAATCCTC 0.383 0 76.0 72.0 73.0 3 382547.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF002246 CCDS2556.1, CCDS58812.1, CCDS74887.1 3p26 2013-05-01 2013-05-01 ENSG00000134121 ENSG00000134121 10752.0 10752.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 1939.0 protein-coding gene gene with protein product """neural cell adhesion molecule"", ""close homolog of L1""" 607416 """cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)""" 9799093 Standard NM_006614 NM_006614 Approved CALL, L1CAM2, FLJ44930, MGC132578 uc003bot.3 O00533 OTTHUMG00000090601 ENST00000256509.2:c.456A>G 3.__UNKNOWN__:g.382547A>G Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999 __UNKNOWN__ CCDS2556.1 CHL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207155.2 + ENST00000256509.2 Silent SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI PARD3 56288 broad.mit.edu 37 10 34408631 34408631 + Missense_Mutation SNP G G A TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr10:34408631G>A ENST00000374789.3 - 24.0 3912 c.3587C>T c.(3586-3588)tCg>tTg p.S1196L PARD3_ENST00000545693.1_Missense_Mutation_p.S1180L|PARD3_ENST00000374788.3_Missense_Mutation_p.S1193L|PARD3_ENST00000374790.3_Missense_Mutation_p.S1136L|PARD3_ENST00000346874.4_Missense_Mutation_p.S1159L|PARD3_ENST00000545260.1_Missense_Mutation_p.S1106L|PARD3_ENST00000374794.3_Missense_Mutation_p.S1084L|PARD3_ENST00000350537.4_Missense_Mutation_p.S1150L NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 1196.0 apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319) apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923) phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) 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) 63.0 Breast(68;0.0707) CACGGACACCGAGTGTCGCCC 0.612 0 25.0 23.0 23.0 10 34408631.0 2202.0 4297.0 6499.0 SO:0001583 missense AF252293 CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1 10p11.22 2014-06-13 2013-08-28 ENSG00000148498 ENSG00000148498 56288.0 56288.0 16051.0 protein-coding gene gene with protein product """atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118""" 606745 """par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)""" 10934474 Standard NM_019619 NM_001184790 Approved PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118 uc010qej.2 Q8TEW0 OTTHUMG00000017948 ENST00000374789.3:c.3587C>T 10.__UNKNOWN__:g.34408631G>A ENSP00000363921:p.Ser1196Leu F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6 __UNKNOWN__ CCDS7178.1 . . . . . . . . . . G 35 5.502000 0.96371 . . ENSG00000148498 ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790 T;T;T;T;T;T;T;T 0.16897 2.39;2.32;2.46;2.46;2.37;2.31;2.32;2.4 5.4 5.4 0.78164 . 0.133895 0.52532 D 0.000071 T 0.40498 0.1119 L 0.53249 1.67 0.80722 D 1 D;D;D;D;D;D;D;D 0.89917 1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.999 D;D;D;D;D;D;D;D 0.83275 0.996;0.975;0.996;0.996;0.996;0.996;0.996;0.99 T 0.14035 -1.0487 10 0.72032 D 0.01 . 19.172 0.93581 0.0:0.0:1.0:0.0 . 1084;1106;1113;1150;1180;1159;1193;1196 Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0 .;.;.;.;.;.;.;PARD3_HUMAN L 1180;1106;1196;1193;1159;1084;1150;1136 ENSP00000443147:S1180L;ENSP00000440857:S1106L;ENSP00000363921:S1196L;ENSP00000363920:S1193L;ENSP00000340591:S1159L;ENSP00000363926:S1084L;ENSP00000311986:S1150L;ENSP00000363922:S1136L ENSP00000340591:S1159L S - 2 0 PARD3 34448637 1.000000 0.71417 0.999000 0.59377 0.853000 0.48598 9.467000 0.97671 2.541000 0.85698 0.650000 0.86243 TCG PARD3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000047527.1 - ENST00000374789.3 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI PCDHB12 0 broad.mit.edu 37 5 140589813 140589813 + Missense_Mutation SNP A A G TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr5:140589813A>G ENST00000239450.2 + 1.0 1523 c.1334A>G c.(1333-1335)aAt>aGt p.N445S PCDHB12_ENST00000541609.1_Missense_Mutation_p.N108S NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 445.0 Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}. cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399) integral component of plasma membrane (GO:0005887) calcium ion binding (GO:0005509) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83.0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCGACGTCAATGACAACGCC 0.597 0 109.0 103.0 105.0 5 140589813.0 2203.0 4300.0 6503.0 SO:0001583 missense AF152491 CCDS4254.1 5q31 2010-01-26 ENSG00000120328 ENSG00000120328 56124.0 56124.0 """Cadherins / Protocadherins : Clustered""" 8683.0 other protocadherin 606338 10380929 Standard NM_018932 NM_018932 Approved PCDH-BETA12 uc003liz.3 Q9Y5F1 OTTHUMG00000129620 ENST00000239450.2:c.1334A>G 5.__UNKNOWN__:g.140589813A>G ENSP00000239450:p.Asn445Ser B4DDU1 __UNKNOWN__ CCDS4254.1 . . . . . . . . . . A 14.74 2.626559 0.46840 . . ENSG00000120328 ENST00000541609;ENST00000239450;ENST00000507840 T;T 0.70749 -0.51;-0.51 3.83 3.83 0.44106 Cadherin (3);Cadherin conserved site (1);Cadherin-like (1); . . . . D 0.88474 0.6446 H 0.97158 3.95 0.40741 D 0.982837 D 0.89917 1.0 D 0.91635 0.999 D 0.91964 0.5581 9 0.87932 D 0 . 12.6166 0.56580 1.0:0.0:0.0:0.0 . 445 Q9Y5F1 PCDBC_HUMAN S 108;445;65 ENSP00000440199:N108S;ENSP00000239450:N445S ENSP00000239450:N445S N + 2 0 PCDHB12 140569997 1.000000 0.71417 0.815000 0.32552 0.028000 0.11728 9.254000 0.95512 1.515000 0.48885 0.397000 0.26171 AAT PCDHB12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251815.2 + ENST00000239450.2 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI MARS 4141 broad.mit.edu 37 12 57908512 57908512 + Missense_Mutation SNP G G A TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr12:57908512G>A ENST00000262027.5 + 16.0 2111 c.1977G>A c.(1975-1977)atG>atA p.M659I MARS_ENST00000315473.5_Missense_Mutation_p.M425I NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 659.0 gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049) 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) 33.0 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) GAGCTGGGATGTTTGTGTCTA 0.507 0 232.0 235.0 234.0 12 57908512.0 2203.0 4300.0 6503.0 SO:0001583 missense X94754 CCDS8942.1 12q13.3 2014-05-06 2007-02-26 ENSG00000166986 ENSG00000166986 4141.0 4141.0 6.1.1.10 """Aminoacyl tRNA synthetases / Class I""" 6898.0 protein-coding gene gene with protein product """methionine tRNA ligase 1, cytoplasmic""" 156560 10448063, 24482476 Standard NM_004990 NM_004990 Approved MetRS, SPG70 uc001sog.3 P56192 OTTHUMG00000169996 ENST00000262027.5:c.1977G>A 12.__UNKNOWN__:g.57908512G>A ENSP00000262027:p.Met659Ile B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0 __UNKNOWN__ CCDS8942.1 . . . . . . . . . . G 14.10 2.434700 0.43224 . . ENSG00000166986 ENST00000262027;ENST00000315473;ENST00000552914 T;T;T 0.41400 1.0;1.0;1.0 5.02 5.02 0.67125 Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1); 0.040522 0.85682 D 0.000000 T 0.43853 0.1266 M 0.72894 2.215 0.58432 D 0.999999 B;B 0.15719 0.005;0.014 B;B 0.17098 0.01;0.017 T 0.32025 -0.9922 10 0.38643 T 0.18 -25.2411 13.9091 0.63855 0.0:0.1538:0.8462:0.0 . 425;659 A6NC17;P56192 .;SYMC_HUMAN I 659;425;15 ENSP00000262027:M659I;ENSP00000314653:M425I;ENSP00000449787:M15I ENSP00000262027:M659I M + 3 0 MARS 56194779 1.000000 0.71417 1.000000 0.80357 0.720000 0.41350 7.037000 0.76531 2.767000 0.95098 0.591000 0.81541 ATG MARS-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407014.1 + ENST00000262027.5 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI TDGF1 6997 broad.mit.edu 37 3 46620740 46620740 + Missense_Mutation SNP T T C TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr3:46620740T>C ENST00000296145.5 + 3.0 840 c.107T>C c.(106-108)tTt>tCt p.F36S TDGF1_ENST00000542931.1_Missense_Mutation_p.F20S|LRRC2_ENST00000296144.3_Intron NM_003212.3 NP_003203.1 P13385 TDGF1_HUMAN teratocarcinoma-derived growth factor 1 36.0 activation of MAPK activity (GO:0000187)|anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle cell differentiation (GO:0055007)|cell differentiation (GO:0030154)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-6 (GO:0071354)|cellular response to tumor necrosis factor (GO:0071356)|embryo development (GO:0009790)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of signal transduction (GO:0009966)|vasculogenesis (GO:0001570) anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) growth factor activity (GO:0008083)|receptor binding (GO:0005102) cervix(2)|endometrium(1)|kidney(1)|lung(4) 8.0 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) CATCAGGAATTTGCTCGTCCA 0.507 0 92.0 88.0 90.0 3 46620740.0 2203.0 4300.0 6503.0 SO:0001583 missense M96955 CCDS2742.1, CCDS54575.1 3p21.31 2012-10-03 ENSG00000241186 ENSG00000241186 6997.0 6997.0 11701.0 protein-coding gene gene with protein product 187395 1882841, 10393436 Standard NM_003212 NM_003212 Approved CRIPTO, CR, Cripto-1 uc021wxd.1 P13385 OTTHUMG00000133482 ENST00000296145.5:c.107T>C 3.__UNKNOWN__:g.46620740T>C ENSP00000296145:p.Phe36Ser Q8TCC1 __UNKNOWN__ CCDS2742.1 . . . . . . . . . . T 11.12 1.544905 0.27652 . . ENSG00000241186 ENST00000542931;ENST00000296145 T;T 0.63255 -0.03;-0.02 3.94 0.32 0.15878 . 1.222030 0.05956 N 0.639745 T 0.39253 0.1071 N 0.08118 0 0.09310 N 1 B 0.13594 0.008 B 0.10450 0.005 T 0.21109 -1.0255 10 0.30078 T 0.28 . 5.8257 0.18552 0.0:0.3484:0.0:0.6516 . 36 P13385 TDGF1_HUMAN S 20;36 ENSP00000446375:F20S;ENSP00000296145:F36S ENSP00000296145:F36S F + 2 0 AC104304.1 46595744 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 0.118000 0.15605 0.045000 0.15804 0.533000 0.62120 TTT TDGF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257378.2 + ENST00000296145.5 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI SUPT20H 55578 broad.mit.edu 37 13 37598536 37598536 + Missense_Mutation SNP C C T TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr13:37598536C>T ENST00000350612.6 - 18.0 1593 c.1373G>A c.(1372-1374)gGt>gAt p.G458D SUPT20H_ENST00000542180.1_Missense_Mutation_p.G422D|SUPT20H_ENST00000475892.1_Missense_Mutation_p.G458D|SUPT20H_ENST00000464744.1_Missense_Mutation_p.G459D|SUPT20H_ENST00000360252.4_Missense_Mutation_p.G459D|SUPT20H_ENST00000356185.3_Missense_Mutation_p.G459D NM_001014286.2 NP_001014308.2 Q8NEM7 SP20H_HUMAN suppressor of Ty 20 homolog (S. cerevisiae) 458.0 autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369) SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461) transcription cofactor activity (GO:0003712) ATGTTTTACACCCTTCCCCAA 0.378 0 78.0 73.0 75.0 13 37598536.0 2203.0 4300.0 6503.0 SO:0001583 missense AF093250 CCDS9362.1, CCDS31959.1, CCDS61311.1 13q13 2012-11-29 2012-11-29 2012-11-29 ENSG00000102710 ENSG00000102710 55578.0 55578.0 20596.0 protein-coding gene gene with protein product """p38 interacting protein"", ""transcription factor (p38 interacting protein)""" 613417 """chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A""" C13orf19, FAM48A 12070015 , 16685401 Standard NM_017569 NM_001278480 Approved SPT20, bA421P11.4, P38IP uc001uwg.3 Q8NEM7 OTTHUMG00000016747 ENST00000350612.6:c.1373G>A 13.__UNKNOWN__:g.37598536C>T ENSP00000218894:p.Gly458Asp E7ER46|Q71RF3|Q9Y6A6 __UNKNOWN__ CCDS31959.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 22.2|22.2 4.255850|4.255850 0.80135|0.80135 .|. .|. ENSG00000102710|ENSG00000102710 ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180|ENST00000469488 T;T;T;T;T;T|. 0.57752|. 0.62;0.52;1.16;0.62;0.62;0.38|. 5.87|5.87 5.03|5.03 0.67393|0.67393 .|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.77870|0.77870 0.4195|0.4195 M|M 0.81802|0.81802 2.56|2.56 0.58432|0.58432 D|D 0.999999|0.999999 D;D;D;D;D;D;D|. 0.64830|. 0.967;0.967;0.992;0.982;0.989;0.994;0.989|. P;P;D;P;P;P;P|. 0.63597|. 0.792;0.792;0.916;0.798;0.869;0.835;0.869|. T|T 0.79676|0.79676 -0.1704|-0.1704 10|5 0.46703|. T|. 0.11|. -10.1248|-10.1248 17.1383|17.1383 0.86745|0.86745 0.0:0.8736:0.1264:0.0|0.0:0.8736:0.1264:0.0 .|. 422;458;458;459;459;458;458|. B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7;F5GX46|. .;.;.;.;.;FA48A_HUMAN;.|. D|M 459;458;458;459;458;459;422|66 ENSP00000353388:G459D;ENSP00000417510:G458D;ENSP00000218894:G458D;ENSP00000348512:G459D;ENSP00000419754:G459D;ENSP00000439000:G422D|. ENSP00000218894:G458D|. G|V -|- 2|1 0|0 FAM48A|FAM48A 36496536|36496536 1.000000|1.000000 0.71417|0.71417 0.556000|0.556000 0.28293|0.28293 0.750000|0.750000 0.42670|0.42670 7.056000|7.056000 0.76662|0.76662 1.476000|1.476000 0.48215|0.48215 0.585000|0.585000 0.79938|0.79938 GGT|GTG SUPT20H-016 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000354766.1 - ENST00000350612.6 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI CRTAC1 55118 broad.mit.edu 37 10 99655137 99655137 + Missense_Mutation SNP G G A TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr10:99655137G>A ENST00000370597.3 - 11.0 1706 c.1351C>T c.(1351-1353)Cgc>Tgc p.R451C CRTAC1_ENST00000298819.4_Missense_Mutation_p.R451C|CRTAC1_ENST00000370591.2_Missense_Mutation_p.R451C NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 451.0 extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509) autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35.0 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) AACCGGGTGCGTGGCACCACT 0.632 0 64.0 59.0 61.0 10 99655137.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ276171 CCDS31266.1, CCDS55723.1 10q22 2007-12-03 ENSG00000095713 ENSG00000095713 55118.0 55118.0 14882.0 protein-coding gene gene with protein product 606276 11139377 Standard NM_018058 NM_018058 Approved FLJ10320, CEP-68, ASPIC1 uc001kou.2 Q9NQ79 OTTHUMG00000018871 ENST00000370597.3:c.1351C>T 10.__UNKNOWN__:g.99655137G>A ENSP00000359629:p.Arg451Cys B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46 __UNKNOWN__ CCDS31266.1 . . . . . . . . . . G 18.52 3.642809 0.67244 . . ENSG00000095713 ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591 T;T;T;T;T 0.74526 1.39;-0.85;1.38;-0.01;-0.01 5.06 4.15 0.48705 . 0.000000 0.85682 D 0.000000 T 0.82121 0.4968 M 0.77820 2.39 0.80722 D 1 D;D;D 0.76494 0.994;0.999;0.994 P;P;P 0.55785 0.784;0.642;0.613 T 0.82508 -0.0422 10 0.38643 T 0.18 -13.1077 14.9568 0.71120 0.0:0.0:0.8561:0.1439 . 451;451;347 Q9NQ79-2;Q9NQ79;Q5T4F6 .;CRAC1_HUMAN;. C 347;451;451;443;451 ENSP00000408445:R347C;ENSP00000359629:R451C;ENSP00000298819:R451C;ENSP00000310810:R443C;ENSP00000359623:R451C ENSP00000298819:R451C R - 1 0 CRTAC1 99645127 1.000000 0.71417 0.496000 0.27539 0.958000 0.62258 3.896000 0.56266 1.113000 0.41760 0.462000 0.41574 CGC CRTAC1-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000049754.1 - ENST00000370597.3 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI TENM1 10178 broad.mit.edu 37 X 123663783 123663783 + Missense_Mutation SNP A A G TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chrX:123663783A>G ENST00000371130.3 - 16.0 2765 c.2702T>C c.(2701-2703)cTa>cCa p.L901P TENM1_ENST00000422452.2_Missense_Mutation_p.L901P NM_014253.3 NP_055068.2 Q9UKZ4 TEN1_HUMAN teneurin transmembrane protein 1 901.0 immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803) CACTCCCACTAGAGGAGTTCC 0.473 0 127.0 98.0 108.0 X 123663783.0 2203.0 4300.0 6503.0 SO:0001583 missense AF100772 CCDS14609.1, CCDS55488.1 Xq25 2012-10-02 2012-10-02 2012-10-02 ENSG00000009694 ENSG00000009694 10178.0 10178.0 8117.0 protein-coding gene gene with protein product 300588 """tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)""" ODZ3, TNM, ODZ1 10331952, 10341219 Standard NM_014253 NM_001163278 Approved TEN-M1 uc010nqy.3 Q9UKZ4 OTTHUMG00000022721 ENST00000371130.3:c.2702T>C X.__UNKNOWN__:g.123663783A>G ENSP00000360171:p.Leu901Pro B2RTR5|Q5JZ17 __UNKNOWN__ CCDS14609.1 . . . . . . . . . . A 24.2 4.508003 0.85282 . . ENSG00000009694 ENST00000371130;ENST00000422452 T;T 0.21361 2.01;2.01 5.93 5.93 0.95920 . 0.000000 0.64402 D 0.000005 T 0.52075 0.1712 M 0.85462 2.755 0.80722 D 1 D;D;D 0.89917 0.999;1.0;1.0 D;D;D 0.87578 0.997;0.998;0.997 T 0.59611 -0.7422 10 0.87932 D 0 . 15.3026 0.73966 1.0:0.0:0.0:0.0 . 900;901;901 B7ZMH4;B2RTR5;Q9UKZ4 .;.;TEN1_HUMAN P 901 ENSP00000360171:L901P;ENSP00000403954:L901P ENSP00000360171:L901P L - 2 0 ODZ1 123491464 1.000000 0.71417 0.991000 0.47740 0.964000 0.63967 9.339000 0.96797 1.997000 0.58415 0.481000 0.45027 CTA TENM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058985.1 - ENST00000371130.3 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI WDR81 124997 broad.mit.edu 37 17 1640710 1640710 + Missense_Mutation SNP G G A TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr17:1640710G>A ENST00000409644.1 + 10.0 5557 c.5557G>A c.(5557-5559)Gtc>Atc p.V1853I RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Missense_Mutation_p.V650I|WDR81_ENST00000446363.1_Missense_Mutation_p.V492I|WDR81_ENST00000309182.5_Missense_Mutation_p.V802I|WDR81_ENST00000419248.1_Missense_Mutation_p.V626I|WDR81_ENST00000545662.1_Missense_Mutation_p.V484I NM_001163809.1 NP_001157281.1 Q562E7 WDR81_HUMAN WD repeat domain 81 1853.0 negative regulation of phosphatase activity (GO:0010923) transferase activity, transferring phosphorus-containing groups (GO:0016772) cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16.0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TTCCTTGACCGTCTGGAAGGA 0.617 0 173.0 110.0 132.0 17 1640710.0 2201.0 4299.0 6500.0 SO:0001583 missense AK074111 CCDS54061.1, CCDS54062.1, CCDS54063.1 17p13.3 2014-06-13 ENSG00000167716 ENSG00000167716 124997.0 124997.0 """WD repeat domain containing""" 26600.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 166""" 614218 Standard NM_152348 NM_001163673 Approved FLJ33817, PPP1R166 uc002ftj.2 Q562E7 OTTHUMG00000153941 ENST00000409644.1:c.5557G>A 17.__UNKNOWN__:g.1640710G>A ENSP00000386609:p.Val1853Ile B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1 __UNKNOWN__ CCDS54062.1 . . . . . . . . . . G 18.53 3.642982 0.67244 . . ENSG00000167716 ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000409644;ENST00000354680;ENST00000545662 T;T;T;T;T;T 0.01287 5.05;5.05;5.05;5.05;5.05;5.05 5.1 3.91 0.45181 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 5.343050 0.00541 N 0.000223 T 0.02727 0.0082 L 0.55017 1.72 0.80722 D 1 P;B;B 0.39782 0.688;0.037;0.309 B;B;B 0.32465 0.146;0.019;0.037 T 0.57277 -0.7839 10 0.33940 T 0.23 . 14.4435 0.67333 0.0842:0.0:0.9158:0.0 . 484;650;802 B7Z6V3;B7Z579;Q562E7 .;.;WDR81_HUMAN I 650;802;492;626;1853;604;484 ENSP00000391074:V650I;ENSP00000312074:V802I;ENSP00000401560:V492I;ENSP00000407845:V626I;ENSP00000386609:V1853I;ENSP00000442726:V484I ENSP00000312074:V802I V + 1 0 WDR81 1587460 1.000000 0.71417 0.980000 0.43619 0.987000 0.75469 5.629000 0.67798 2.361000 0.80049 0.650000 0.86243 GTC WDR81-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000333118.2 + ENST00000409644.1 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI Unknown 0 bcgsc.ca 37 7 72336944 72336944 + RNA SNP G G A TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr7:72336944G>A RN7SL625P (24639 upstream) : POM121 (12991 downstream) ACAGAGCCAGGAAGAAATGAA 0.507 0 SO:0001628 intergenic_variant 7.__UNKNOWN__:g.72336944G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI PAIP1 10605 bcgsc.ca 37 5 43536935 43536935 + Missense_Mutation SNP C C A TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr5:43536935C>A ENST00000436644.2 - 6.0 967 c.721G>T c.(721-723)Gta>Tta p.V241L PAIP1_ENST00000338972.4_Missense_Mutation_p.V208L|PAIP1_ENST00000306846.3_Missense_Mutation_p.V320L|PAIP1_ENST00000514514.1_Missense_Mutation_p.V241L Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 320.0 MIF4G. gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413) cytoplasm (GO:0005737)|cytosol (GO:0005829) RNA binding (GO:0003723)|translation activator activity (GO:0008494) endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24.0 Lung NSC(6;2.07e-05) AACAATTTTACTGCACAAATT 0.303 0 47.0 50.0 49.0 5 43536935.0 2203.0 4300.0 6503.0 SO:0001583 missense AF013758 CCDS3947.1, CCDS3948.1, CCDS47204.1 5p12 2008-02-05 ENSG00000172239 ENSG00000172239 10605.0 10605.0 16945.0 protein-coding gene gene with protein product 605184 9548260, 11230166 Standard NM_006451 NM_006451 Approved uc003job.3 Q9H074 OTTHUMG00000096960 ENST00000436644.2:c.721G>T 5.__UNKNOWN__:g.43536935C>A ENSP00000387729:p.Val241Leu A6NKV8|O60455|Q96B61|Q9BS63 __UNKNOWN__ CCDS47204.1 . . . . . . . . . . C 15.93 2.977966 0.53720 . . ENSG00000172239 ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514 T;T;T;T 0.19394 2.15;2.15;2.15;2.15 5.52 4.64 0.57946 MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1); 0.000000 0.85682 D 0.000000 T 0.20740 0.0499 L 0.48642 1.525 0.58432 D 0.999996 B;B;B 0.30236 0.082;0.274;0.132 B;B;B 0.28638 0.032;0.092;0.032 T 0.02893 -1.1097 10 0.45353 T 0.12 -20.4395 14.7338 0.69402 0.0:0.929:0.0:0.071 . 241;320;241 D6REB4;Q9H074;Q9H074-2 .;PAIP1_HUMAN;. L 320;241;208;241 ENSP00000302768:V320L;ENSP00000387729:V241L;ENSP00000339622:V208L;ENSP00000425084:V241L ENSP00000302768:V320L V - 1 0 PAIP1 43572692 1.000000 0.71417 1.000000 0.80357 0.968000 0.65278 6.435000 0.73412 2.601000 0.87937 0.585000 0.79938 GTA PAIP1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000367948.1 - ENST00000436644.2 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI HOOK3 84376 ucsc.edu 37 8 42814404 42814404 + Missense_Mutation SNP G G T TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr8:42814404G>T ENST00000307602.4 + 8.0 762 c.562G>T c.(562-564)Gct>Tct p.A188S NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 188.0 cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031) centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242) identical protein binding (GO:0042802)|microtubule binding (GO:0008017) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31.0 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) ACTAAATGAAGCTTTGTCAGC 0.353 T RET papillary thyroid Dom yes 8 8p11.21 84376.0 hook homolog 3 E 0 112.0 112.0 112.0 8 42814404.0 2203.0 4300.0 6503.0 SO:0001583 missense AK090540 CCDS6139.1 8p11.21 2013-08-21 2013-08-21 ENSG00000168172 ENSG00000168172 84376.0 84376.0 23576.0 protein-coding gene gene with protein product 607825 """hook homolog 3 (Drosophila)""" 9927460 Standard NM_032410 NM_032410 Approved HK3 uc003xpr.3 Q86VS8 OTTHUMG00000165278 ENST00000307602.4:c.562G>T 8.__UNKNOWN__:g.42814404G>T ENSP00000305699:p.Ala188Ser D3DSY8|Q8NBH0|Q9BY13 __UNKNOWN__ CCDS6139.1 . . . . . . . . . . G 29.9 5.044256 0.93685 . . ENSG00000168172 ENST00000307602 T 0.18016 2.24 5.7 5.7 0.88788 . 0.105474 0.64402 D 0.000006 T 0.37652 0.1011 L 0.60455 1.87 0.46499 D 0.999074 D;D 0.67145 0.996;0.98 D;P 0.72625 0.978;0.893 T 0.02966 -1.1088 10 0.13853 T 0.58 -8.8395 19.4515 0.94869 0.0:0.0:1.0:0.0 . 188;188 Q2VJ45;Q86VS8 .;HOOK3_HUMAN S 188 ENSP00000305699:A188S ENSP00000305699:A188S A + 1 0 HOOK3 42933561 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.377000 0.97184 2.683000 0.91414 0.655000 0.94253 GCT HOOK3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000383172.2 + ENST00000307602.4 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI LPHN3 23284 ucsc.edu 37 4 62679602 62679602 + Missense_Mutation SNP T T C TCGA-WB-A81D-01A-11D-A35I-08 TCGA-WB-A81D-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 82d05a53-ab4d-44e0-b2bf-94e0e80da830 fa630d71-91a2-4852-8728-fd3a2de4677c g.chr4:62679602T>C ENST00000514591.1 + 8.0 1600 c.1271T>C c.(1270-1272)gTt>gCt p.V424A LPHN3_ENST00000506720.1_Missense_Mutation_p.V492A|LPHN3_ENST00000506746.1_Missense_Mutation_p.V492A|LPHN3_ENST00000507164.1_Missense_Mutation_p.V492A|LPHN3_ENST00000509896.1_Missense_Mutation_p.V492A|LPHN3_ENST00000545650.1_Missense_Mutation_p.V424A|LPHN3_ENST00000508693.1_Missense_Mutation_p.V492A|LPHN3_ENST00000506700.1_Missense_Mutation_p.V424A|LPHN3_ENST00000514157.1_Missense_Mutation_p.V424A|LPHN3_ENST00000508946.1_Missense_Mutation_p.V424A|LPHN3_ENST00000507625.1_Missense_Mutation_p.V492A|LPHN3_ENST00000514996.1_Missense_Mutation_p.V424A|LPHN3_ENST00000512091.2_Missense_Mutation_p.V424A|LPHN3_ENST00000504896.1_Missense_Mutation_p.V424A|LPHN3_ENST00000511324.1_Missense_Mutation_p.V492A Q9HAR2 LPHN3_HUMAN latrophilin 3 424.0 G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930) 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) 125.0 agaccctctgttaaaggtgag 0.383 0 94.0 86.0 89.0 4 62679602.0 1882.0 4114.0 5996.0 SO:0001583 missense AB018311 CCDS54768.1 4q13.1 2014-08-08 ENSG00000150471 23284.0 23284.0 """-"", ""GPCR / Class B : Orphans""" 20974.0 protein-coding gene gene with protein product 10994649 Standard NM_015236 Approved KIAA0768, LEC3 uc010ihh.3 Q9HAR2 ENST00000514591.1:c.1271T>C 4.__UNKNOWN__:g.62679602T>C ENSP00000422533:p.Val424Ala E9PE04|O94867|Q9NWK5 __UNKNOWN__ CCDS54768.1 . . . . . . . . . . T 6.591 0.477461 0.12521 . . ENSG00000150471 ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996 T;T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.69806 -0.4;-0.41;-0.43;-0.43;-0.4;-0.41;-0.43;-0.43;-0.42;-0.4;-0.4;-0.41;-0.43;-0.43;-0.41 3.67 3.67 0.42095 . 0.885835 0.09737 N 0.762392 T 0.48502 0.1503 N 0.24115 0.695 0.23082 N 0.998324 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.28808 -1.0032 10 0.09843 T 0.71 . 9.0114 0.36144 0.0:0.0:0.0:1.0 . 424;424 E9PE04;Q9HAR2-2 .;. A 424;424;492;492;424;424;424;424;424;492;492;492;424;424;424;492;492;424 ENSP00000423388:V424A;ENSP00000422533:V424A;ENSP00000423787:V492A;ENSP00000425033:V492A;ENSP00000424120:V424A;ENSP00000439831:V424A;ENSP00000421476:V492A;ENSP00000424030:V492A;ENSP00000421372:V492A;ENSP00000425201:V424A;ENSP00000423434:V424A;ENSP00000421627:V424A;ENSP00000420931:V492A;ENSP00000425884:V492A;ENSP00000424258:V424A ENSP00000280009:V424A V + 2 0 LPHN3 62362197 0.282000 0.24268 0.955000 0.39395 0.226000 0.24999 1.617000 0.36943 1.900000 0.55004 0.460000 0.39030 GTT LPHN3-003 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000361765.1 + ENST00000514591.1 Missense_Mutation SNP PCPG-TCGA-WB-A81D-Normal-SM-5EMMI GIGYF2 26058 broad.mit.edu 37 2 233721515 233721515 + Missense_Mutation SNP A A G TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr2:233721515A>G ENST00000409196.3 + 28.0 3925 c.3827A>G c.(3826-3828)aAt>aGt p.N1276S GIGYF2_ENST00000409480.1_Missense_Mutation_p.N1304S|GIGYF2_ENST00000409547.1_Missense_Mutation_p.N1282S|GIGYF2_ENST00000409451.3_Missense_Mutation_p.N1303S|GIGYF2_ENST00000373563.4_Missense_Mutation_p.N1282S|GIGYF2_ENST00000373566.3_Missense_Mutation_p.N1304S NM_001103148.1 NP_001096618.1 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 1282.0 adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522) membrane (GO:0016020) poly(A) RNA binding (GO:0044822) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63.0 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TTTTCAGTCAATGCATCATCG 0.512 0 163.0 152.0 155.0 2 233721515.0 2203.0 4300.0 6503.0 SO:0001583 missense U80751 CCDS33401.1, CCDS46542.1, CCDS46543.1 2q37.1 2011-07-06 2008-02-11 2008-02-11 ENSG00000204120 ENSG00000204120 26058.0 26058.0 """Trinucleotide (CAG) repeat containing""" 11960.0 protein-coding gene gene with protein product """GYF domain containing 2""" 612003 """PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11""" PERQ2, PERQ3, TNRC15, PARK11 9225980, 9734811, 12771153, 18358451, 19279319 Standard NM_001103146 NM_015575 Approved KIAA0642, GYF2 uc002vtk.4 Q6Y7W6 OTTHUMG00000153237 ENST00000409196.3:c.3827A>G 2.__UNKNOWN__:g.233721515A>G ENSP00000387070:p.Asn1276Ser A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82 __UNKNOWN__ CCDS46543.1 . . . . . . . . . . A 19.95 3.921484 0.73213 . . ENSG00000204120 ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451 T;T;T;T;T;T 0.73681 -0.76;-0.77;-0.76;-0.77;-0.76;-0.76 4.84 4.84 0.62591 . 0.000000 0.85682 D 0.000000 T 0.67813 0.2933 L 0.51422 1.61 0.80722 D 1 P;P;P 0.51057 0.941;0.941;0.941 B;B;B 0.41271 0.352;0.265;0.265 T 0.66917 -0.5802 10 0.23891 T 0.37 -13.0704 14.4071 0.67090 1.0:0.0:0.0:0.0 . 1303;1282;1276 A6H8W4;Q6Y7W6;E9PBB0 .;PERQ2_HUMAN;. S 1304;1282;1304;1282;1276;1303 ENSP00000362667:N1304S;ENSP00000362664:N1282S;ENSP00000386765:N1304S;ENSP00000386537:N1282S;ENSP00000387070:N1276S;ENSP00000387170:N1303S ENSP00000362664:N1282S N + 2 0 GIGYF2 233429759 1.000000 0.71417 0.998000 0.56505 0.994000 0.84299 8.359000 0.90093 1.788000 0.52465 0.477000 0.44152 AAT GIGYF2-003 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000330318.1 + ENST00000409196.3 Missense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY CGNL1 84952 broad.mit.edu 37 15 57730597 57730597 + Missense_Mutation SNP G G A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr15:57730597G>A ENST00000281282.5 + 2.0 478 c.400G>A c.(400-402)Gac>Aac p.D134N NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 134.0 Head. myosin complex (GO:0016459)|tight junction (GO:0005923) motor activity (GO:0003774) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60.0 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) AGATCGCAAAGACGGGTCTGT 0.473 0 54.0 54.0 54.0 15 57730597.0 2192.0 4292.0 6484.0 SO:0001583 missense AY274808 CCDS10161.1 15q21.3 2011-06-10 ENSG00000128849 ENSG00000128849 84952.0 84952.0 25931.0 protein-coding gene gene with protein product 607856 11214970 Standard NM_032866 NM_001252335 Approved FLJ14957, JACOP, KIAA1749, paracingulin uc002aeg.3 Q0VF96 OTTHUMG00000166485 ENST00000281282.5:c.400G>A 15.__UNKNOWN__:g.57730597G>A ENSP00000281282:p.Asp134Asn Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4 __UNKNOWN__ CCDS10161.1 . . . . . . . . . . G 15.08 2.727583 0.48833 . . ENSG00000128849 ENST00000281282 T 0.06933 3.24 4.63 4.63 0.57726 . 0.151331 0.30277 N 0.009983 T 0.09992 0.0245 L 0.40543 1.245 0.38027 D 0.935044 B 0.27559 0.181 B 0.24155 0.051 T 0.12553 -1.0543 10 0.72032 D 0.01 -5.7126 17.6896 0.88266 0.0:0.0:1.0:0.0 . 134 Q0VF96 CGNL1_HUMAN N 134 ENSP00000281282:D134N ENSP00000281282:D134N D + 1 0 CGNL1 55517889 1.000000 0.71417 0.072000 0.20136 0.506000 0.33950 5.694000 0.68272 2.401000 0.81631 0.650000 0.86243 GAC CGNL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255482.2 + ENST00000281282.5 Missense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY ZBTB9 221504 broad.mit.edu 37 6 33424049 33424049 + Missense_Mutation SNP G G T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr6:33424049G>T ENST00000395064.2 + 2.0 1440 c.1172G>T c.(1171-1173)cGg>cTg p.R391L NM_152735.3 NP_689948.1 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 391.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11.0 TGTGGGAAGCGGTTTGCAGTG 0.602 0 69.0 52.0 58.0 6 33424049.0 2203.0 4300.0 6503.0 SO:0001583 missense AK122644 CCDS4780.1 6p21.31 2013-01-09 ENSG00000213588 ENSG00000213588 221504.0 221504.0 """-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type""" 28323.0 protein-coding gene gene with protein product 12477932 Standard NM_152735 NM_152735 Approved MGC23166, ZNF919 uc003oeq.3 Q96C00 OTTHUMG00000140180 ENST00000395064.2:c.1172G>T 6.__UNKNOWN__:g.33424049G>T ENSP00000378503:p.Arg391Leu A2AB19 __UNKNOWN__ CCDS4780.1 . . . . . . . . . . G 16.67 3.187939 0.57909 . . ENSG00000213588 ENST00000395064 T 0.15017 2.46 4.99 4.99 0.66335 . 0.128228 0.29861 U 0.011012 T 0.13114 0.0318 L 0.31420 0.93 0.36364 D 0.86086 D 0.58268 0.982 P 0.52031 0.688 T 0.02161 -1.1203 10 0.40728 T 0.16 . 15.8062 0.78513 0.0:0.0:1.0:0.0 . 391 Q96C00 ZBTB9_HUMAN L 391 ENSP00000378503:R391L ENSP00000378503:R391L R + 2 0 ZBTB9 33532027 1.000000 0.71417 0.999000 0.59377 0.985000 0.73830 4.405000 0.59741 2.594000 0.87642 0.655000 0.94253 CGG ZBTB9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276533.1 + ENST00000395064.2 Missense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY VCP 7415 broad.mit.edu 37 9 35057381 35057381 + Silent SNP G G A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr9:35057381G>A ENST00000358901.6 - 16.0 3202 c.2307C>T c.(2305-2307)ggC>ggT p.G769G NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 769.0 activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861) ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381) breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24.0 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) ACCTGAAGCTGCCAAAGCCCC 0.507 0 244.0 261.0 255.0 9 35057381.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AC004472 CCDS6573.1 9p13.3 2014-09-17 2011-01-25 ENSG00000165280 ENSG00000165280 7415.0 7415.0 """ATPases / AAA-type""" 12666.0 protein-coding gene gene with protein product 601023 """valosin-containing protein""" 8595912, 7553851 Standard NM_007126 NM_007126 Approved IBMPFD, p97 uc003zvy.2 P55072 OTTHUMG00000019855 ENST00000358901.6:c.2307C>T 9.__UNKNOWN__:g.35057381G>A B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5 __UNKNOWN__ CCDS6573.1 VCP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052290.1 - ENST00000358901.6 Silent SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY EIF3K 27335 broad.mit.edu 37 19 39127527 39127527 + Splice_Site SNP A A C TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr19:39127527A>C ENST00000593149.1 + 8.0 695 c.e8-1 EIF3K_ENST00000588934.1_Splice_Site|EIF3K_ENST00000592558.1_Splice_Site|EIF3K_ENST00000248342.4_Splice_Site eukaryotic translation initiation factor 3, subunit K EIF3K/CYP39A1(2) central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8.0 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCTTCCCCACAGGTGTGTCCA 0.532 0 208.0 176.0 187.0 19 39127527.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AB019392 CCDS12517.1, CCDS74360.1 19q13.2 2012-05-28 2007-07-27 2007-07-27 ENSG00000178982 ENSG00000178982 27335.0 27335.0 24656.0 protein-coding gene gene with protein product 609596 """eukaryotic translation initiation factor 3, subunit 12""" EIF3S12 11042152, 14519125 Standard NM_013234 XM_006723147 Approved eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134 uc002oiz.1 Q9UBQ5 ENST00000593149.1:c.365-1A>C 19.__UNKNOWN__:g.39127527A>C __UNKNOWN__ . . . . . . . . . . A 20.2 3.957901 0.73902 . . ENSG00000178982 ENST00000248342 . . . 4.77 4.77 0.60923 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 13.4036 0.60898 1.0:0.0:0.0:0.0 . . . . . -1 . . . + . . EIF3K 43819367 1.000000 0.71417 0.998000 0.56505 0.843000 0.47879 7.271000 0.78506 2.005000 0.58758 0.528000 0.53228 . EIF3K-004 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000453405.1 Intron + ENST00000593149.1 Splice_Site SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY DMBT1 1755 broad.mit.edu 37 10 124392750 124392750 + Missense_Mutation SNP C C A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr10:124392750C>A ENST00000338354.3 + 49.0 6160 c.6054C>A c.(6052-6054)gaC>gaA p.D2018E DMBT1_ENST00000344338.3_Missense_Mutation_p.D2008E|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1390E|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2008E|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1390E|DMBT1_ENST00000368909.3_Missense_Mutation_p.D2018E|DMBT1_ENST00000359586.6_Missense_Mutation_p.D738E Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2018.0 CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}. defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589) calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375) breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72.0 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CATCAGGGGACTTTTCCAGCC 0.507 Ovarian(182;93 2026 18125 22222 38972) 0 141.0 137.0 138.0 10 124392750.0 1893.0 4120.0 6013.0 SO:0001583 missense CCDS44490.1, CCDS44491.1, CCDS44492.1 10q25.3-q26.1 2008-08-01 ENSG00000187908 ENSG00000187908 1755.0 1755.0 2926.0 protein-coding gene gene with protein product 601969 9288095, 17548659 Standard NM_004406 NM_004406 Approved GP340, muclin uc001lgk.1 Q9UGM3 OTTHUMG00000019185 ENST00000338354.3:c.6054C>A 10.__UNKNOWN__:g.124392750C>A ENSP00000342210:p.Asp2018Glu A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9 __UNKNOWN__ . . . . . . . . . . C 8.875 0.950121 0.18431 . . ENSG00000187908 ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586 T;T;T;T;T;T;T 0.26957 1.7;1.7;1.7;1.7;1.7;1.7;1.7 5.28 -2.15 0.07102 CUB (5); . . . . T 0.04003 0.0112 N 0.00602 -1.34 0.09310 N 1 B;B;B;P;B;B;B 0.39696 0.001;0.0;0.001;0.683;0.001;0.001;0.001 B;B;B;B;B;B;B 0.31495 0.002;0.001;0.002;0.131;0.002;0.002;0.003 T 0.21075 -1.0256 9 0.02654 T 1 . 4.3035 0.10935 0.2302:0.3181:0.3738:0.0779 . 738;1998;1267;2147;1390;2008;2018 F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3 .;.;.;.;.;.;DMBT1_HUMAN E 2018;2147;2018;2018;2018;2017;1390;2008;1390;1390;2018;2008;1390;164;738 ENSP00000342210:D2018E;ENSP00000343175:D2008E;ENSP00000327747:D1390E;ENSP00000357905:D2018E;ENSP00000357951:D2008E;ENSP00000357952:D1390E;ENSP00000352593:D738E ENSP00000331522:D1390E D + 3 2 DMBT1 124382740 0.000000 0.05858 0.071000 0.20095 0.098000 0.18820 -1.879000 0.01629 -0.071000 0.12886 -0.300000 0.09419 GAC DMBT1-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000050792.2 + ENST00000338354.3 Missense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY PADI3 51702 broad.mit.edu 37 1 17575683 17575683 + Silent SNP G G A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr1:17575683G>A ENST00000375460.3 + 1.0 91 c.51G>A c.(49-51)gcG>gcA p.A17A NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 17.0 protein citrullination (GO:0018101) cytoplasm (GO:0005737) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32.0 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CCACCAGCGCGGTGTGTGTGG 0.607 0 159.0 136.0 144.0 1 17575683.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB026831 CCDS179.1 1p36.13 2008-02-05 ENSG00000142619 ENSG00000142619 51702.0 51702.0 3.5.3.15 """Peptidyl arginine deiminases""" 18337.0 protein-coding gene gene with protein product 606755 11069618 Standard NM_016233 Approved PDI3 uc001bai.3 Q9ULW8 OTTHUMG00000002373 ENST00000375460.3:c.51G>A 1.__UNKNOWN__:g.17575683G>A Q58EY7|Q70SX5 __UNKNOWN__ CCDS179.1 PADI3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000006805.1 + ENST00000375460.3 Silent SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY C10orf90 118611 broad.mit.edu 37 10 128118419 128118419 + Splice_Site SNP T T C TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr10:128118419T>C ENST00000356858.3 - 7.0 2608 c.1757A>G c.(1756-1758)gAt>gGt p.D586G C10orf90_ENST00000454341.1_Splice_Site_p.D536G|C10orf90_ENST00000480379.1_Splice_Site_p.D37G|C10orf90_ENST00000544758.1_Splice_Site_p.D730G|C10orf90_ENST00000284694.7_Splice_Site_p.D633G Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 633.0 ALMS motif. {ECO:0000250}. mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411) actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737) 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) 65.0 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) GAACAAGTTATCTGGAAAAAA 0.358 0 133.0 125.0 128.0 10 128118419.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant BC034828 CCDS31310.1 10q26.2 2012-05-31 ENSG00000154493 ENSG00000154493 118611.0 118611.0 26563.0 protein-coding gene gene with protein product """fragile-site associated tumor suppressor""" 20843368, 20154723 Standard NM_001004298 NM_001004298 Approved FLJ32938, bA422P15.2, FATS uc001ljq.3 Q96M02 OTTHUMG00000019245 ENST00000356858.3:c.1757-1A>G 10.__UNKNOWN__:g.128118419T>C B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 13.37|13.37 2.218043|2.218043 0.39201|0.39201 .|. .|. ENSG00000154493|ENSG00000154493 ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642|ENST00000424927 T;T;T;T|. 0.20332|. 2.11;2.15;2.12;2.08|. 4.78|4.78 4.78|4.78 0.61160|0.61160 .|. 0.136558|. 0.33691|. N|. 0.004647|. T|T 0.58148|0.58148 0.2102|0.2102 L|L 0.43152|0.43152 1.355|1.355 0.80722|0.80722 D|D 1|1 B;B;P|. 0.36110|. 0.193;0.106;0.537|. B;B;B|. 0.38500|. 0.08;0.045;0.275|. T|T 0.55891|0.55891 -0.8069|-0.8069 10|5 0.56958|. D|. 0.05|. .|. 12.3833|12.3833 0.55320|0.55320 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. 730;633;536|. F5GZL2;Q96M02;Q96M02-2|. .;CJ090_HUMAN;.|. G|V 586;633;536;730;633|176 ENSP00000284694:D633G;ENSP00000398786:D536G;ENSP00000444369:D730G;ENSP00000405995:D633G|. ENSP00000284694:D633G|. D|I -|- 2|1 0|0 C10orf90|C10orf90 128108409|128108409 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.987000|0.987000 0.75469|0.75469 5.722000|5.722000 0.68485|0.68485 1.928000|1.928000 0.55862|0.55862 0.533000|0.533000 0.62120|0.62120 GAT|ATA C10orf90-001 KNOWN basic protein_coding protein_coding OTTHUMT00000050969.2 Missense_Mutation - ENST00000356858.3 Splice_Site SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY PFKM 5213 broad.mit.edu 37 12 48529135 48529135 + Missense_Mutation SNP G G A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr12:48529135G>A ENST00000312352.7 + 10.0 944 c.905G>A c.(904-906)gGt>gAt p.G302D PFKM_ENST00000395233.2_Intron|PFKM_ENST00000340802.6_Missense_Mutation_p.G373D|PFKM_ENST00000359794.5_Missense_Mutation_p.G302D|PFKM_ENST00000551804.1_Intron|PFKM_ENST00000547587.1_Missense_Mutation_p.G302D NM_001166687.1 NP_001160159.1 P08237 PFKAM_HUMAN phosphofructokinase, muscle 302.0 N-terminal catalytic PFK domain 1. carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281) 6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228) 6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35.0 GTGCAGAGGGGTGGGACGCCA 0.572 0 133.0 109.0 117.0 12 48529135.0 2203.0 4300.0 6503.0 SO:0001583 missense M26066 CCDS8760.1, CCDS53786.1 12q13.11 2014-06-13 5213.0 5213.0 2.7.1.11 8877.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 122""" 610681 """phosphofructokinase, polypeptide X""" PFKX Standard NM_000289 NM_001166686 Approved PFK-1, PPP1R122 uc001rrb.2 P08237 ENST00000312352.7:c.905G>A 12.__UNKNOWN__:g.48529135G>A ENSP00000309438:p.Gly302Asp J3KNX3|Q16814|Q16815|Q6ZTT1 __UNKNOWN__ CCDS8760.1 . . . . . . . . . . G 33 5.261267 0.95368 . . ENSG00000152556 ENST00000340802;ENST00000359794;ENST00000547587;ENST00000312352 D;D;D;D 0.88509 -2.39;-2.39;-2.39;-2.39 5.05 5.05 0.67936 Phosphofructokinase domain (2);Phosphofructokinase, conserved site (1); 0.000000 0.85682 D 0.000000 D 0.97564 0.9202 H 0.99922 4.955 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.87578 0.995;0.998 D 0.99016 1.0816 10 0.87932 D 0 -13.2891 17.7333 0.88384 0.0:0.0:1.0:0.0 . 302;373 P08237;Q6ZTT1 K6PF_HUMAN;. D 373;302;302;302 ENSP00000345771:G373D;ENSP00000352842:G302D;ENSP00000449426:G302D;ENSP00000309438:G302D ENSP00000309438:G302D G + 2 0 PFKM 46815402 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 9.657000 0.98554 2.793000 0.96121 0.655000 0.94253 GGT PFKM-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406490.1 + ENST00000312352.7 Missense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY PTBP1 5725 broad.mit.edu 37 19 804908 804908 + Missense_Mutation SNP C C T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr19:804908C>T ENST00000349038.4 + 7.0 759 c.686C>T c.(685-687)gCg>gTg p.A229V PTBP1_ENST00000356948.6_Missense_Mutation_p.A229V|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.A229V NM_031991.3 NP_114368.1 P26599 PTBP1_HUMAN polypyrimidine tract binding protein 1 229.0 RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}. alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4) 19.0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCAGTATGCGGACCCCGTG 0.662 0 C VAL/ALA,VAL/ALA,VAL/ALA, 1,4405 2.1+/-5.4 0,1,2202 82.0 77.0 79.0 686,686,686, 3.1 0.0 19 79.0 0,8600 0,0,4300 yes missense,missense,missense,intron PTBP1 NM_002819.4,NM_031990.3,NM_031991.3,NM_175847.2 64,64,64, 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 benign,benign,benign, 229/558,229/551,229/532, 804908.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense X60648 CCDS32859.1, CCDS42456.1, CCDS45892.1 19p13.3 2013-07-16 2002-01-25 2002-01-25 ENSG00000011304 ENSG00000011304 5725.0 5725.0 """RNA binding motif (RRM) containing""" 9583.0 protein-coding gene gene with protein product """heterogeneous nuclear ribonucleoprotein I""" 600693 """polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)""" PTB 1906036, 11024286 Standard NM_002819 Approved HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB uc002lpp.2 P26599 ENST00000349038.4:c.686C>T 19.__UNKNOWN__:g.804908C>T ENSP00000014112:p.Ala229Val Q9BUQ0 __UNKNOWN__ CCDS32859.1 . . . . . . . . . . C 10.85 1.465840 0.26335 2.27E-4 0.0 ENSG00000011304 ENST00000356948;ENST00000394601;ENST00000349038 T;T;T 0.47528 0.84;0.84;1.13 5.22 3.11 0.35812 Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3); 0.312976 0.33753 N 0.004595 T 0.43211 0.1237 M 0.70842 2.15 0.25834 N 0.984139 B;B;B 0.21905 0.062;0.01;0.012 B;B;B 0.17098 0.017;0.01;0.017 T 0.44636 -0.9315 10 0.62326 D 0.03 -38.0913 6.3887 0.21576 0.0:0.6883:0.1504:0.1613 . 229;229;229 P26599;P26599-2;Q9BUQ0 PTBP1_HUMAN;.;. V 229 ENSP00000349428:A229V;ENSP00000408096:A229V;ENSP00000014112:A229V ENSP00000014112:A229V A + 2 0 PTBP1 755908 0.998000 0.40836 0.003000 0.11579 0.273000 0.26683 3.875000 0.56108 0.601000 0.29879 -0.136000 0.14681 GCG PTBP1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457605.1 + ENST00000349038.4 Missense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY MGAM 8972 broad.mit.edu 37 7 141766505 141766505 + Missense_Mutation SNP C C T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr7:141766505C>T ENST00000475668.2 + 41.0 4957 c.4903C>T c.(4903-4905)Cgg>Tgg p.R1635W MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1635.0 Glucoamylase. carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13.0 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CACTGTTGTGCGGCCTCTGCT 0.483 0 C 0,1750 0,0,875 264.0 208.0 226.0 3.0 0.8 7 226.0 1,3897 0,1,1948 no intron MGAM NM_004668.2 0,1,2823 TT,TC,CC 0.0257,0.0,0.0177 141766505.0 1,5647 875.0 1949.0 2824.0 SO:0001583 missense AF016833 CCDS47727.1 7q34 2012-10-03 ENSG00000257335 ENSG00000257335 8972.0 8972.0 7043.0 protein-coding gene gene with protein product 154360 9446624 Standard NM_004668 Approved MGA uc003vwy.3 O43451 OTTHUMG00000158395 ENST00000475668.2:c.4903C>T 7.__UNKNOWN__:g.141766505C>T ENSP00000417515:p.Arg1635Trp Q0VAX6|Q75ME7|Q86UM5 __UNKNOWN__ . . . . . . . . . . C 9.485 1.099228 0.20552 0.0 2.57E-4 ENSG00000257335 ENST00000475668;ENST00000548812 . . . 3.97 3.05 0.35203 . . . . . T 0.67306 0.2879 . . . 0.37454 D 0.914923 . . . . . . T 0.73107 -0.4087 5 0.87932 D 0 . 11.5007 0.50435 0.1816:0.8183:0.0:0.0 . . . . W 1635;1512 . ENSP00000316431:R1512W R + 1 2 MGAM 141412974 1.000000 0.71417 0.753000 0.31225 0.045000 0.14185 4.722000 0.61958 0.609000 0.30018 0.306000 0.20318 CGG MGAM-007 PUTATIVE basic|appris_principal protein_coding protein_coding OTTHUMT00000351290.4 + ENST00000475668.2 Missense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY TOX 9760 broad.mit.edu 37 8 59720342 59720342 + Splice_Site SNP C C T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr8:59720342C>T ENST00000361421.1 - 9.0 1765 c.1545G>A c.(1543-1545)ggG>ggA p.G515G NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 515.0 nucleus (GO:0005634) DNA binding (GO:0003677) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33.0 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) TCTGCATGCCCCTGTAGGAAG 0.448 OREG0018787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) Pancreas(161;610 1969 17913 21374 22725) 0 120.0 112.0 115.0 8 59720342.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant CCDS34897.1 8q12.2-q12.3 2009-04-17 ENSG00000198846 ENSG00000198846 9760.0 9760.0 18988.0 protein-coding gene gene with protein product 606863 9872452, 11850626 Standard NM_014729 NM_014729 Approved KIAA0808, TOX1 uc003xtw.1 O94900 OTTHUMG00000164331 ENST00000361421.1:c.1545-1G>A 8.__UNKNOWN__:g.59720342C>T 1040.0 Q96AV5 __UNKNOWN__ CCDS34897.1 TOX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378307.1 Silent - ENST00000361421.1 Splice_Site SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY HELZ2 85441 broad.mit.edu 37 20 62194390 62194390 + Missense_Mutation SNP G G A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr20:62194390G>A ENST00000467148.1 - 8.0 5854 c.5785C>T c.(5785-5787)Cgg>Tgg p.R1929W HELZ2_ENST00000427522.2_Missense_Mutation_p.R1360W NM_001037335.2 NP_001032412.2 Q9BYK8 HELZ2_HUMAN helicase with zinc finger 2, transcriptional coactivator 1929.0 cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) membrane (GO:0016020)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) CTCGGGGCCCGGTACACACGG 0.687 0 SO:0001583 missense AB201715 CCDS13527.1, CCDS33508.1 20q13.33 2012-09-26 ENSG00000130589 ENSG00000130589 85441.0 85441.0 30021.0 protein-coding gene gene with protein product """peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1""" 611265 11214970, 12189208, 16239304 Standard NM_001037335 NM_001037335 Approved PDIP1, PRIC285, KIAA1769 uc002yfm.2 Q9BYK8 OTTHUMG00000032969 ENST00000467148.1:c.5785C>T 20.__UNKNOWN__:g.62194390G>A ENSP00000417401:p.Arg1929Trp Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094 __UNKNOWN__ CCDS33508.1 . . . . . . . . . . G 12.43 1.934801 0.34189 . . ENSG00000130589 ENST00000427522;ENST00000467148 T;T 0.80033 -1.33;-1.23 4.75 4.75 0.60458 . 0.873474 0.10332 N 0.687452 T 0.75391 0.3843 N 0.14661 0.345 0.09310 N 1 D;P 0.64830 0.994;0.952 P;P 0.49502 0.613;0.471 T 0.68648 -0.5353 10 0.87932 D 0 -21.1121 14.2624 0.66094 0.0:0.1499:0.8501:0.0 . 1929;1360 Q9BYK8;Q9BYK8-2 PR285_HUMAN;. W 1360;1929 ENSP00000393257:R1360W;ENSP00000417401:R1929W ENSP00000393257:R1360W R - 1 2 RP4-697K14.7 61664834 0.002000 0.14202 0.009000 0.14445 0.010000 0.07245 1.336000 0.33850 2.192000 0.70111 0.491000 0.48974 CGG HELZ2-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000354127.1 - ENST00000467148.1 Missense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY ITIH3 3699 broad.mit.edu 37 3 52840340 52840340 + Silent SNP T T A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr3:52840340T>A ENST00000449956.2 + 18.0 1980 c.1974T>A c.(1972-1974)atT>atA p.I658I ITIH3_ENST00000416872.2_Intron NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 658.0 hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867) 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) 25.0 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) TCATCCAAATTCCGGAGAAAG 0.572 0 55.0 57.0 56.0 3 52840340.0 2031.0 4192.0 6223.0 SO:0001819 synonymous_variant CCDS46845.1 3p21.1 2011-10-26 2011-10-26 ENSG00000162267 ENSG00000162267 3699.0 3699.0 6168.0 protein-coding gene gene with protein product """pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3""" 146650 """inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3""" 2465147, 10100603 Standard NM_002217 NM_002217 Approved H3P uc003dfv.2 Q06033 OTTHUMG00000158956 ENST00000449956.2:c.1974T>A 3.__UNKNOWN__:g.52840340T>A Q3B7H5|Q53F06|Q6LAM2|Q99085 __UNKNOWN__ CCDS46845.1 . . . . . . . . . . T 5.669 0.307984 0.10733 . . ENSG00000162267 ENST00000398670;ENST00000536431 . . . 5.38 -6.2 0.02072 . . . . . T 0.40094 0.1103 . . . 0.80722 D 1 . . . . . . T 0.37361 -0.9709 5 0.15066 T 0.55 -11.3148 7.613 0.28142 0.0:0.2827:0.2576:0.4597 . . . . T 659;647 . ENSP00000381662:S659T S + 1 0 ITIH3 52815380 0.030000 0.19436 0.044000 0.18714 0.438000 0.31896 -1.200000 0.03029 -0.670000 0.05282 0.459000 0.35465 TCC ITIH3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352668.2 + ENST00000449956.2 Silent SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY MORC3 23515 broad.mit.edu 37 21 37716913 37716913 + Missense_Mutation SNP C C G TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr21:37716913C>G ENST00000400485.1 + 7.0 869 c.793C>G c.(793-795)Cag>Gag p.Q265E MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 265.0 cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821) PML body (GO:0016605) zinc ion binding (GO:0008270) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35.0 GCCAAGAATGCAGATCATCCT 0.373 0 141.0 134.0 137.0 21 37716913.0 1904.0 4128.0 6032.0 SO:0001583 missense AK025327 CCDS42924.1 21q22.13 2005-06-15 2005-06-15 2005-06-15 ENSG00000159256 ENSG00000159256 23515.0 23515.0 23572.0 protein-coding gene gene with protein product 610078 """zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3""" ZCWCC3 14607086 Standard NM_015358 NM_015358 Approved ZCW5, NXP2, KIAA0136 uc002yvi.3 Q14149 OTTHUMG00000086620 ENST00000400485.1:c.793C>G 21.__UNKNOWN__:g.37716913C>G ENSP00000383333:p.Gln265Glu A8KA92|Q9UEZ2 __UNKNOWN__ CCDS42924.1 . . . . . . . . . . C 31 5.097662 0.94197 . . ENSG00000159256 ENST00000400485 T 0.72942 -0.7 5.49 5.49 0.81192 ATPase-like, ATP-binding domain (1); 0.000000 0.85682 D 0.000000 T 0.72028 0.3410 M 0.66297 2.02 0.80722 D 1 P 0.38250 0.624 B 0.38378 0.272 T 0.72191 -0.4365 10 0.38643 T 0.18 -12.025 19.377 0.94514 0.0:1.0:0.0:0.0 . 265 Q14149 MORC3_HUMAN E 265 ENSP00000383333:Q265E ENSP00000383333:Q265E Q + 1 0 MORC3 36638783 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.726000 0.84824 2.582000 0.87167 0.655000 0.94253 CAG MORC3-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000194640.1 + ENST00000400485.1 Missense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY TSGA13 114960 broad.mit.edu 37 7 130356501 130356501 + Splice_Site SNP C C T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr7:130356501C>T ENST00000456951.1 - 8.0 1509 c.658G>A c.(658-660)Gct>Act p.A220T TSGA13_ENST00000356588.3_Splice_Site_p.A220T Q96PP4 TSG13_HUMAN testis specific, 13 220.0 endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 18.0 Melanoma(18;0.0435) AGGAGCTTACCATCTTTCCTC 0.448 0 242.0 234.0 237.0 7 130356501.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AK093329 CCDS5824.1 7q32 2008-02-04 ENSG00000213265 ENSG00000213265 114960.0 114960.0 12369.0 protein-coding gene gene with protein product Standard NM_052933 NM_052933 Approved uc003vqi.3 Q96PP4 OTTHUMG00000154999 ENST00000456951.1:c.658+1G>A 7.__UNKNOWN__:g.130356501C>T B3KSC9 __UNKNOWN__ CCDS5824.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 15.97|15.97 2.988498|2.988498 0.53934|0.53934 .|. .|. ENSG00000213265|ENSG00000213265 ENST00000456951;ENST00000356588|ENST00000418126 .|. .|. .|. 5.57|5.57 5.57|5.57 0.84162|0.84162 .|. 1.028930|. 0.07771|. N|. 0.951668|. T|T 0.33118|0.33118 0.0852|0.0852 N|N 0.14661|0.14661 0.345|0.345 0.29755|0.29755 N|N 0.835988|0.835988 P|. 0.40731|. 0.728|. B|. 0.36186|. 0.219|. T|T 0.22173|0.22173 -1.0224|-1.0224 8|5 .|. .|. .|. -0.3903|-0.3903 15.0593|15.0593 0.71939|0.71939 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 220|. Q96PP4|. TSG13_HUMAN|. T|I 220|220 .|. .|. A|V -|- 1|1 0|0 TSGA13|TSGA13 130007041|130007041 0.966000|0.966000 0.33281|0.33281 0.960000|0.960000 0.40013|0.40013 0.055000|0.055000 0.15305|0.15305 3.287000|3.287000 0.51732|0.51732 2.622000|2.622000 0.88805|0.88805 0.555000|0.555000 0.69702|0.69702 GCT|GTC TSGA13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337997.1 Missense_Mutation - ENST00000456951.1 Splice_Site SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY LGALS14 56891 broad.mit.edu 37 19 40199856 40199856 + Missense_Mutation SNP G G C rs111361406 byFrequency TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr19:40199856G>C ENST00000360675.3 + 5.0 676 c.410G>C c.(409-411)cGc>cCc p.R137P LGALS14_ENST00000392052.3_Missense_Mutation_p.R108P NM_203471.1 NP_982297.1 Q8TCE9 PPL13_HUMAN lectin, galactoside-binding, soluble, 14 108.0 Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}. apoptotic process (GO:0006915) nucleus (GO:0005634) carbohydrate binding (GO:0030246) p.R108L(1)|p.R137L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2) 14.0 all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06) Myeloproliferative disorder(2;0.0741) Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22) AATGGCCAACGCATTTACAAC 0.468 2 Substitution - Missense(2) endometrium(2) G PRO/ARG,PRO/ARG 1,4405 0,1,2202 109.0 106.0 107.0 323,410 -1.8 0.0 19 dbSNP_132 107.0 0,8600 0,0,4300 no missense,missense LGALS14 NM_020129.2,NM_203471.1 103,103 0,1,6502 CC,CG,GG 0.0,0.0227,0.0077 benign,benign 108/140,137/169 40199856.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AF267852 CCDS12542.1, CCDS46073.1 19q13.2 2014-03-19 ENSG00000006659 ENSG00000006659 56891.0 56891.0 """Lectins, galactoside-binding""" 30054.0 protein-coding gene gene with protein product 607260 11997112 Standard NM_020129 NM_020129 Approved PPL13, CLC2 uc002omg.3 Q8TCE9 OTTHUMG00000183143 ENST00000360675.3:c.410G>C 19.__UNKNOWN__:g.40199856G>C ENSP00000353893:p.Arg137Pro A8MPV8|B2R530|C5HZ19|Q7Z4X8|Q96KD4|Q96KD5|Q96KD6|Q9NR03 __UNKNOWN__ CCDS12542.1 . . . . . . . . . . . 0.061 -1.224251 0.01530 2.27E-4 0.0 ENSG00000006659 ENST00000392052;ENST00000360675 T;T 0.05447 3.44;3.44 0.902 -1.8 0.07907 Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1); . . . . T 0.03915 0.0110 N 0.25060 0.705 0.09310 N 1 B;B 0.06786 0.0;0.001 B;B 0.15484 0.002;0.013 T 0.42865 -0.9426 9 0.33141 T 0.24 . 4.5317 0.12008 0.716:0.0:0.284:0.0 . 108;137 Q8TCE9;A8MPV8 PPL13_HUMAN;. P 108;137 ENSP00000375905:R108P;ENSP00000353893:R137P ENSP00000353893:R137P R + 2 0 LGALS14 44891696 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.870000 0.04228 -0.825000 0.04290 -0.671000 0.03813 CGC LGALS14-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000465223.1 + ENST00000360675.3 Missense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY CSTF1 1477 broad.mit.edu 37 20 54972305 54972305 + Missense_Mutation SNP G G T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr20:54972305G>T ENST00000217109.4 + 3.0 564 c.212G>T c.(211-213)cGt>cTt p.R71L CSTF1_ENST00000493039.1_3'UTR NM_001033521.1|NM_001324.2 NP_001028693.1|NP_001315.1 Q05048 CSTF1_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa 71.0 gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) nucleoplasm (GO:0005654)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 15.0 Colorectal(105;0.202) GCAATTGGTCGTTCAGATACT 0.428 0 144.0 136.0 139.0 20 54972305.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS13452.1 20q13.31 2013-01-10 2002-08-29 ENSG00000101138 ENSG00000101138 1477.0 1477.0 """WD repeat domain containing""" 2483.0 protein-coding gene gene with protein product 600369 """cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD""" 1358884, 11257228 Standard NM_001033521 NM_001033521 Approved uc002xxl.1 Q05048 OTTHUMG00000032791 ENST00000217109.4:c.212G>T 20.__UNKNOWN__:g.54972305G>T ENSP00000217109:p.Arg71Leu Q5QPD8 __UNKNOWN__ CCDS13452.1 . . . . . . . . . . G 18.76 3.692933 0.68271 . . ENSG00000101138 ENST00000415828;ENST00000217109;ENST00000428552;ENST00000425890;ENST00000452950 T;T;T 0.57273 0.41;0.43;0.41 6.06 6.06 0.98353 . 0.000000 0.85682 D 0.000000 T 0.45013 0.1321 L 0.29908 0.895 0.80722 D 1 B 0.22414 0.069 B 0.12837 0.008 T 0.18429 -1.0337 10 0.28530 T 0.3 1.8631 20.6208 0.99490 0.0:0.0:1.0:0.0 . 71 Q05048 CSTF1_HUMAN L 71;71;71;58;71 ENSP00000387968:R71L;ENSP00000217109:R71L;ENSP00000409035:R71L ENSP00000217109:R71L R + 2 0 CSTF1 54405712 1.000000 0.71417 0.974000 0.42286 0.995000 0.86356 9.624000 0.98398 2.882000 0.98803 0.655000 0.94253 CGT CSTF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079794.2 + ENST00000217109.4 Missense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY RPS6KA4 8986 broad.mit.edu 37 11 64136019 64136019 + Missense_Mutation SNP G G A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr11:64136019G>A ENST00000334205.4 + 11.0 1345 c.1280G>A c.(1279-1281)cGc>cAc p.R427H RPS6KA4_ENST00000528057.1_Missense_Mutation_p.R420H|RPS6KA4_ENST00000294261.4_Intron NM_003942.2 NP_003933.1 O75676 KS6A4_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 4 427.0 Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}. axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711) breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1) 13.0 GTGTGTCGCCGCTGCCGCCAG 0.701 0 G HIS/ARG,HIS/ARG 1,4357 0,1,2178 9.0 11.0 11.0 1262,1280 4.5 1.0 11 11.0 12,8514 0,12,4251 yes missense,missense RPS6KA4 NM_001006944.1,NM_003942.2 29,29 0,13,6429 AA,AG,GG 0.1407,0.0229,0.1009 probably-damaging,probably-damaging 421/767,427/773 64136019.0 13,12871 2179.0 4263.0 6442.0 SO:0001583 missense AJ010119 CCDS8073.1, CCDS73313.1 11q11-q13 2011-04-05 2002-08-29 ENSG00000162302 ENSG00000162302 8986.0 8986.0 10433.0 protein-coding gene gene with protein product 603606 """ribosomal protein S6 kinase, 90kD, polypeptide 4""" 9792677, 9687510 Standard NM_003942 XM_005274379 Approved RSK-B, MSK2 uc001oae.3 O75676 OTTHUMG00000046094 ENST00000334205.4:c.1280G>A 11.__UNKNOWN__:g.64136019G>A ENSP00000333896:p.Arg427His A8K7Z8|O75585|Q53ES8 __UNKNOWN__ CCDS8073.1 . . . . . . . . . . g 17.24 3.339473 0.60963 2.29E-4 0.001407 ENSG00000162302 ENST00000528057;ENST00000334205;ENST00000530504 T;T;T 0.42513 0.97;0.97;0.97 4.5 4.5 0.54988 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.221656 0.37530 N 0.002053 T 0.47451 0.1446 L 0.33339 1.005 0.09310 N 0.999995 D;D;D 0.69078 0.963;0.997;0.984 P;D;P 0.65323 0.616;0.934;0.843 T 0.32214 -0.9915 10 0.72032 D 0.01 . 8.538 0.33375 0.108:0.0:0.892:0.0 . 420;427;421 E9PJN1;O75676;O75676-2 .;KS6A4_HUMAN;. H 420;427;405 ENSP00000435580:R420H;ENSP00000333896:R427H;ENSP00000432945:R405H ENSP00000333896:R427H R + 2 0 RPS6KA4 63892595 0.333000 0.24731 0.997000 0.53966 0.668000 0.39293 2.159000 0.42339 2.059000 0.61396 0.462000 0.41574 CGC RPS6KA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000106246.2 + ENST00000334205.4 Missense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY METAP2 10988 broad.mit.edu 37 12 95877034 95877034 + Silent SNP A A G TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr12:95877034A>G ENST00000323666.5 + 3.0 532 c.303A>G c.(301-303)aaA>aaG p.K101K METAP2_ENST00000261220.9_Intron|METAP2_ENST00000546753.1_Silent_p.K101K|METAP2_ENST00000551840.1_Silent_p.K100K|METAP2_ENST00000550777.1_Silent_p.K65K NM_006838.3 NP_006829.1 methionyl aminopeptidase 2 endometrium(3)|large_intestine(2)|lung(7)|prostate(1) 13.0 agaagaagaaaaagaagaaga 0.383 0 114.0 113.0 114.0 12 95877034.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U13261 CCDS9052.1 12q22 2014-09-04 ENSG00000111142 10988.0 10988.0 3.4.11.18 16672.0 protein-coding gene gene with protein product """Peptidase M""" 601870 7644482, 8858118 Standard NM_006838 NM_006838 Approved MNPEP, p67, MAP2 uc001tec.3 P50579 OTTHUMG00000170280 ENST00000323666.5:c.303A>G 12.__UNKNOWN__:g.95877034A>G __UNKNOWN__ CCDS9052.1 METAP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000408296.1 + ENST00000323666.5 Silent SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY SUPT6H 6830 broad.mit.edu 37 17 27023888 27023888 + Missense_Mutation SNP C C T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr17:27023888C>T ENST00000314616.6 + 30.0 4280 c.3997C>T c.(3997-3999)Cca>Tca p.P1333S SUPT6H_ENST00000347486.4_Missense_Mutation_p.P1333S NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1333.0 SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}. chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) nucleus (GO:0005634) DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700) 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) 64.0 Lung NSC(42;0.00431) GATCGCACACCCATCCTTCCA 0.498 0 127.0 107.0 114.0 17 27023888.0 2203.0 4300.0 6503.0 SO:0001583 missense U38658 CCDS32596.1 17q11.2 2013-02-14 2001-11-28 ENSG00000109111 6830.0 6830.0 """SH2 domain containing""" 11470.0 protein-coding gene gene with protein product 601333 """suppressor of Ty (S.cerevisiae) 6 homolog""" 8786132 Standard NM_003170 XM_005258026 Approved KIAA0162, SPT6H uc002hby.3 Q7KZ85 ENST00000314616.6:c.3997C>T 17.__UNKNOWN__:g.27023888C>T ENSP00000319104:p.Pro1333Ser A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2 __UNKNOWN__ CCDS32596.1 . . . . . . . . . . C 33 5.270240 0.95429 . . ENSG00000109111 ENST00000314616 T 0.31510 1.49 6.07 6.07 0.98685 SH2 motif (2); 0.000000 0.85682 D 0.000000 T 0.67031 0.2850 M 0.91972 3.26 0.80722 D 1 D 0.89917 1.0 D 0.81914 0.995 T 0.72033 -0.4412 10 0.66056 D 0.02 -9.9544 20.6439 0.99570 0.0:1.0:0.0:0.0 . 1333 Q7KZ85 SPT6H_HUMAN S 1333 ENSP00000319104:P1333S ENSP00000319104:P1333S P + 1 0 SUPT6H 24048015 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 7.399000 0.79935 2.884000 0.98904 0.655000 0.94253 CCA SUPT6H-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000446422.2 + ENST00000314616.6 Missense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY MAPK13 5603 broad.mit.edu 37 6 36098434 36098434 + Nonsense_Mutation SNP C C A rs151226715 by1000genomes TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr6:36098434C>A ENST00000211287.4 + 1.0 337 c.75C>A c.(73-75)taC>taA p.Y25* MAPK13_ENST00000373761.6_Nonsense_Mutation_p.Y25*|MAPK13_ENST00000373766.5_Nonsense_Mutation_p.Y25* NM_002754.4 NP_002745.1 O15264 MK13_HUMAN mitogen-activated protein kinase 13 25.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351) cytosol (GO:0005829) ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674) breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1) 12.0 CCAAGACCTACGTGTCCCCGA 0.697 C 3.0 0.0014 0.01 2184.0 0.9992 , , 0.0003 0.0013 0.0018 0.8482 LOWCOV,EXOME 0.001 SNP 0 C stop/TYR 1,4399 0,1,2199 27.0 26.0 26.0 75 1.3 1.0 6 dbSNP_134 26.0 6,8590 0,6,4292 yes stop-gained MAPK13 NM_002754.3 0,7,6491 AA,AC,CC 0.0698,0.0227,0.0539 25/366 36098434.0 7,12989 2200.0 4298.0 6498.0 SO:0001587 stop_gained Y10488 CCDS4818.1 6p21 2011-06-09 ENSG00000156711 ENSG00000156711 5603.0 5603.0 2.7.11.1 """Mitogen-activated protein kinase cascade / Kinases""" 6875.0 protein-coding gene gene with protein product 602899 PRKM13 9295308, 9218798 Standard NM_002754 Approved SAPK4, p38delta uc003ols.4 O15264 OTTHUMG00000014587 ENST00000211287.4:c.75C>A 6.__UNKNOWN__:g.36098434C>A ENSP00000211287:p.Tyr25* O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0 __UNKNOWN__ CCDS4818.1 3 0.0013736263736263737 0 0.0 2 0.0055248618784530384 0 0.0 1 0.0013192612137203166 C 38 7.262969 0.98171 2.27E-4 6.98E-4 ENSG00000156711 ENST00000373761;ENST00000211287;ENST00000373770;ENST00000373766 . . . 4.16 1.29 0.21616 . 0.000000 0.43747 U 0.000525 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -9.0328 7.8555 0.29480 0.0:0.6582:0.0:0.3418 . . . . X 25 . ENSP00000211287:Y25X Y + 3 2 MAPK13 36206412 0.102000 0.21896 0.996000 0.52242 0.972000 0.66771 0.668000 0.25127 0.244000 0.21351 -0.350000 0.07774 TAC MAPK13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040328.1 + ENST00000211287.4 Nonsense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY HDAC2 3066 broad.mit.edu 37 6 114270226 114270226 + Missense_Mutation SNP T T C TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr6:114270226T>C ENST00000519065.1 - 8.0 1134 c.758A>G c.(757-759)tAt>tGt p.Y253C HDAC2_ENST00000519108.1_Missense_Mutation_p.Y223C|HDAC2_ENST00000398283.2_Missense_Mutation_p.Y347C|HDAC2_ENST00000368632.2_Missense_Mutation_p.Y223C Q92769 HDAC2_HUMAN histone deacetylase 2 253.0 Histone deacetylase. ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) 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) 27.0 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) Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546) ACTAGGTTGATACATCTCCAT 0.363 0 208.0 187.0 194.0 6 114270226.0 1988.0 4173.0 6161.0 SO:0001583 missense U31814 CCDS43493.1, CCDS43493.2 6q21 2008-08-29 ENSG00000196591 ENSG00000196591 3066.0 3066.0 4853.0 protein-coding gene gene with protein product 605164 9782097 Standard NM_001527 Approved RPD3, YAF1 uc003pwd.2 Q92769 OTTHUMG00000015411 ENST00000519065.1:c.758A>G 6.__UNKNOWN__:g.114270226T>C ENSP00000430432:p.Tyr253Cys B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4 __UNKNOWN__ CCDS43493.2 . . . . . . . . . . T 24.0 4.485314 0.84854 . . ENSG00000196591 ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632 T;T;T;T 0.75589 -0.95;-0.95;-0.95;-0.95 5.8 5.8 0.92144 Histone deacetylase domain (2); 0.000000 0.64402 D 0.000004 D 0.90222 0.6943 H 0.98199 4.17 0.80722 D 1 D;D 0.67145 0.996;0.992 D;P 0.71656 0.974;0.881 D 0.93806 0.7105 10 0.87932 D 0 -30.1926 16.1408 0.81519 0.0:0.0:0.0:1.0 . 223;253 B3KRS5;Q92769 .;HDAC2_HUMAN C 253;347;223;223 ENSP00000430432:Y253C;ENSP00000381331:Y347C;ENSP00000430008:Y223C;ENSP00000357621:Y223C ENSP00000357621:Y223C Y - 2 0 HDAC2 114376919 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 5.099000 0.64554 2.218000 0.71995 0.533000 0.62120 TAT HDAC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041909.2 - ENST00000519065.1 Missense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY DNASE1 1773 broad.mit.edu 37 16 3706108 3706108 + Missense_Mutation SNP C C G TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr16:3706108C>G ENST00000246949.5 + 4.0 3451 c.242C>G c.(241-243)gCa>gGa p.A81G DNASE1_ENST00000407479.1_Missense_Mutation_p.A81G|DNASE1_ENST00000414110.2_Missense_Mutation_p.H2D NM_005223.3 NP_005214.2 P24855 DNAS1_HUMAN deoxyribonuclease I 81.0 apoptotic process (GO:0006915) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) deoxyribonuclease I activity (GO:0004530) lung(1) 1.0 Ovarian(90;0.0261) Kidney(780;0.0556) TCCAGGGATGCACCAGACACC 0.597 0 86.0 79.0 81.0 16 3706108.0 2197.0 4300.0 6497.0 SO:0001583 missense CCDS10507.1 16p13.3 2008-02-05 ENSG00000213918 ENSG00000213918 1773.0 1773.0 3.1.21.1 2956.0 protein-coding gene gene with protein product 125505 DNL1 2349940 Standard XM_005255148 Approved uc002cvr.3 P24855 OTTHUMG00000129426 ENST00000246949.5:c.242C>G 16.__UNKNOWN__:g.3706108C>G ENSP00000246949:p.Ala81Gly B4DV35|Q14UU9|Q14UV0 __UNKNOWN__ CCDS10507.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 11.38|11.38 1.622352|1.622352 0.28889|0.28889 .|. .|. ENSG00000213918|ENSG00000213918 ENST00000407479;ENST00000246949|ENST00000414110 T;T|T 0.51325|0.46819 0.71;0.71|0.86 5.06|5.06 -2.07|-2.07 0.07276|0.07276 Endonuclease/exonuclease/phosphatase (2);|. 1.806170|. 0.02552|. N|. 0.095796|. T|T 0.25269|0.25269 0.0614|0.0614 N|N 0.12746|0.12746 0.255|0.255 0.09310|0.09310 N|N 1|1 B|. 0.33777|. 0.425|. B|. 0.28916|. 0.096|. T|T 0.22347|0.22347 -1.0219|-1.0219 10|7 0.37606|0.87932 T|D 0.19|0 -7.8118|-7.8118 2.0623|2.0623 0.03595|0.03595 0.4651:0.2015:0.1899:0.1434|0.4651:0.2015:0.1899:0.1434 .|. 81|. P24855|. DNAS1_HUMAN|. G|D 81|2 ENSP00000385905:A81G;ENSP00000246949:A81G|ENSP00000416699:H2D ENSP00000246949:A81G|ENSP00000416699:H2D A|H +|+ 2|1 0|0 DNASE1|DNASE1 3646109|3646109 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.030000|0.030000 0.12068|0.12068 -1.071000|-1.071000 0.03437|0.03437 -0.763000|-0.763000 0.04658|0.04658 0.561000|0.561000 0.74099|0.74099 GCA|CAC DNASE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251585.2 + ENST00000246949.5 Missense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY LSS 4047 broad.mit.edu 37 21 47648646 47648646 + Translation_Start_Site SNP G G A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr21:47648646G>A ENST00000397728.3 - 1.0 92 c.14C>T c.(13-15)aCg>aTg p.T5M LSS_ENST00000356396.4_Splice_Site_p.T5M|LSS_ENST00000457828.2_De_novo_Start_InFrame|LSS_ENST00000522411.1_Splice_Site_p.T5M|LSS_ENST00000464357.1_5'UTR NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 5.0 cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202) endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020) lanosterol synthase activity (GO:0000250) cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21.0 Breast(49;0.214) GGGGACTCACGTGCCCTCCGT 0.746 Pancreas(114;955 2313 34923 50507) 0 20.0 21.0 21.0 21 47648646.0 2194.0 4291.0 6485.0 SO:0001630 splice_region_variant U22526 CCDS13733.1, CCDS46654.1, CCDS54489.1 21q22.3 1998-05-07 ENSG00000160285 ENSG00000160285 4047.0 4047.0 5.4.99.7 6708.0 protein-coding gene gene with protein product 600909 7639730, 8655142 Standard NM_001001438 Approved OSC uc002zij.3 P48449 OTTHUMG00000090633 ENST00000397728.3:c.14+1C>T 21.__UNKNOWN__:g.47648646G>A B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1 __UNKNOWN__ CCDS13733.1 . . . . . . . . . . G 18.85 3.711957 0.68730 . . ENSG00000160285 ENST00000356396;ENST00000397728;ENST00000522411 T;T;T 0.14893 2.47;2.47;2.47 3.95 3.95 0.45737 . 0.066662 0.64402 D 0.000017 T 0.30166 0.0756 L 0.57536 1.79 0.80722 D 1 D;D 0.76494 0.999;0.999 P;P 0.57371 0.819;0.664 T 0.02646 -1.1129 10 0.62326 D 0.03 . 11.6566 0.51322 0.0:0.0:1.0:0.0 . 5;5 E9PEI9;P48449 .;ERG7_HUMAN M 5 ENSP00000348762:T5M;ENSP00000380837:T5M;ENSP00000429133:T5M ENSP00000348762:T5M T - 2 0 LSS 46473074 0.001000 0.12720 0.576000 0.28549 0.274000 0.26718 0.025000 0.13577 2.212000 0.71576 0.491000 0.48974 ACG LSS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207274.2 Missense_Mutation - ENST00000397728.3 Splice_Site SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY CDKL5 6792 broad.mit.edu 37 X 18616728 18616728 + Silent SNP T T C TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chrX:18616728T>C ENST00000379989.3 + 12.0 1257 c.972T>C c.(970-972)tcT>tcC p.S324S CDKL5_ENST00000379996.3_Silent_p.S324S NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 324.0 neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773) cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587) ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365) 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) 44.0 Hepatocellular(33;0.183) GCACATTGTCTAATAGGTAAA 0.398 0 88.0 78.0 81.0 X 18616728.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant Y15057 CCDS14186.1 Xp22 2011-11-04 2002-11-26 2002-11-29 ENSG00000008086 ENSG00000008086 6792.0 6792.0 """Cyclin-dependent kinases""" 11411.0 protein-coding gene gene with protein product 300203 """serine/threonine kinase 9""" STK9 9721213, 16935860 Standard NM_003159 XM_005274584 Approved EIEE2 uc004cym.3 O76039 OTTHUMG00000021214 ENST00000379989.3:c.972T>C X.__UNKNOWN__:g.18616728T>C G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6 __UNKNOWN__ CCDS14186.1 CDKL5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055945.2 + ENST00000379989.3 Silent SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY GAD1 2571 broad.mit.edu 37 2 171675133 171675133 + Missense_Mutation SNP C C T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr2:171675133C>T ENST00000358196.3 + 2.0 582 c.32C>T c.(31-33)aCc>aTc p.T11I GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Missense_Mutation_p.T11I|GAD1_ENST00000375272.1_Missense_Mutation_p.T11I NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 11.0 gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268) clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506) glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35.0 TCGTCCGCAACCTCCTCGAAC 0.607 0 83.0 84.0 83.0 2 171675133.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS2239.1, CCDS2240.1 2q31 2008-02-05 2002-08-29 ENSG00000128683 ENSG00000128683 2571.0 2571.0 4.1.1.15 4092.0 protein-coding gene gene with protein product 605363 """glutamate decarboxylase 1 (brain, 67kD)""" GAD 1549570 Standard XM_005246443 Approved uc002ugi.3 Q99259 OTTHUMG00000044175 ENST00000358196.3:c.32C>T 2.__UNKNOWN__:g.171675133C>T ENSP00000350928:p.Thr11Ile Q49AK1|Q53TQ7|Q9BU91|Q9UHH4 __UNKNOWN__ CCDS2239.1 . . . . . . . . . . C 18.77 3.694255 0.68386 . . ENSG00000128683 ENST00000454603;ENST00000445006;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864 T;T;T;T;T;T;T 0.80304 -1.16;-1.36;2.3;0.43;0.43;-1.14;-1.14 5.77 5.77 0.91146 . 0.400083 0.24703 N 0.036294 T 0.68504 0.3008 N 0.08118 0 0.34169 D 0.669555 B;B 0.23058 0.079;0.039 B;B 0.25987 0.029;0.065 T 0.73193 -0.4060 10 0.66056 D 0.02 -1.6538 17.4922 0.87707 0.0:1.0:0.0:0.0 . 11;11 Q99259;Q99259-3 DCE1_HUMAN;. I 11 ENSP00000402366:T11I;ENSP00000394948:T11I;ENSP00000350928:T11I;ENSP00000364421:T11I;ENSP00000341167:T11I;ENSP00000405917:T11I;ENSP00000394255:T11I ENSP00000341167:T11I T + 2 0 GAD1 171383379 1.000000 0.71417 1.000000 0.80357 0.971000 0.66376 4.545000 0.60698 2.724000 0.93272 0.561000 0.74099 ACC GAD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000102664.2 + ENST00000358196.3 Missense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY ITGAV 3685 broad.mit.edu 37 2 187455082 187455082 + Missense_Mutation SNP G G A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr2:187455082G>A ENST00000261023.3 + 1.0 291 c.17G>A c.(16-18)cGg>cAg p.R6Q ITGAV_ENST00000374907.3_Missense_Mutation_p.R6Q NM_002210.3 NP_002201 P06756 ITAV_HUMAN integrin, alpha V 6.0 angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718) alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587) extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245) 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) 47.0 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) Antithymocyte globulin(DB00098) TTTCCGCCGCGGCGACGGCTG 0.741 Melanoma(58;108 1995 6081) 0 15.0 18.0 17.0 2 187455082.0 2193.0 4287.0 6480.0 SO:0001583 missense CCDS2292.1, CCDS46470.1, CCDS46471.1 2q31-q32 2012-04-20 2012-04-20 ENSG00000138448 ENSG00000138448 3685.0 3685.0 """CD molecules"", ""Integrins""" 6150.0 protein-coding gene gene with protein product 193210 """antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)""" VNRA, MSK8, VTNR 2454952 Standard NM_002210 NM_001144999 Approved CD51 uc002upq.4 P06756 OTTHUMG00000132635 ENST00000261023.3:c.17G>A 2.__UNKNOWN__:g.187455082G>A ENSP00000261023:p.Arg6Gln A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15 __UNKNOWN__ CCDS2292.1 . . . . . . . . . . G 15.07 2.723975 0.48728 . . ENSG00000138448 ENST00000544640;ENST00000261023;ENST00000374907 T;T 0.68181 -0.31;-0.29 3.85 -1.38 0.09027 . 1.333680 0.05192 N 0.503212 T 0.51805 0.1696 N 0.24115 0.695 0.09310 N 0.999996 B;B 0.27264 0.173;0.108 B;B 0.22880 0.042;0.01 T 0.33085 -0.9882 10 0.27082 T 0.32 . 12.1412 0.53998 0.0:0.6239:0.2542:0.1219 . 6;6 P06756-2;P06756 .;ITAV_HUMAN Q 6 ENSP00000261023:R6Q;ENSP00000364042:R6Q ENSP00000261023:R6Q R + 2 0 ITGAV 187163327 0.001000 0.12720 0.000000 0.03702 0.342000 0.28953 0.147000 0.16202 -0.445000 0.07159 0.563000 0.77884 CGG ITGAV-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255882.2 + ENST00000261023.3 Missense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY GGT7 2686 broad.mit.edu 37 20 33449307 33449307 + Missense_Mutation SNP G G A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr20:33449307G>A ENST00000336431.5 - 4.0 660 c.616C>T c.(616-618)Cgg>Tgg p.R206W NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 206.0 glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370) anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021) gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374) NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20.0 GCGGACTCCCGGAAATCAATT 0.557 0 64.0 62.0 63.0 20 33449307.0 2203.0 4300.0 6503.0 SO:0001583 missense AL049709 CCDS13242.2 20q11.22 2008-11-24 2008-03-10 2008-03-10 ENSG00000131067 ENSG00000131067 2686.0 2686.0 """Gamma-glutamyltransferases""" 4259.0 protein-coding gene gene with protein product 612342 """gamma-glutamyltransferase-like 3""" GGTL5, GGTL3 8104871, 18357469 Standard NM_178026 NM_178026 Approved D20S101, dJ18C9.2 uc002xay.3 Q9UJ14 OTTHUMG00000032314 ENST00000336431.5:c.616C>T 20.__UNKNOWN__:g.33449307G>A ENSP00000338964:p.Arg206Trp Q8N899|Q8NF66|Q9BYP5|Q9BYP6 __UNKNOWN__ CCDS13242.2 . . . . . . . . . . G 23.0 4.365621 0.82463 . . ENSG00000131067 ENST00000336431 T 0.10573 2.86 5.74 5.74 0.90152 . 0.000000 0.85682 D 0.000000 T 0.48132 0.1483 H 0.95950 3.745 0.49798 D 0.99982 D;P;D 0.76494 0.998;0.854;0.999 P;B;D 0.64595 0.855;0.253;0.927 T 0.64732 -0.6338 10 0.87932 D 0 -17.0466 19.926 0.97102 0.0:0.0:1.0:0.0 . 206;206;206 Q9UJ14-5;A4FU32;Q9UJ14 .;.;GGT7_HUMAN W 206 ENSP00000338964:R206W ENSP00000338964:R206W R - 1 2 GGT7 32912968 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 4.901000 0.63259 2.707000 0.92482 0.655000 0.94253 CGG GGT7-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000078816.2 - ENST00000336431.5 Missense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY ANKHD1 54882 broad.mit.edu 37 5 139907954 139907960 + Frame_Shift_Del DEL CTTTGGG CTTTGGG - TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr5:139907954_139907960delCTTTGGG ENST00000360839.2 + 29.0 5577_5583 c.5423_5429delCTTTGGG c.(5422-5430)cctttgggtfs p.PLG1808fs ANKHD1_ENST00000544120.1_Frame_Shift_Del_p.PLG191fs|ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.PLG1808fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.PLG1808fs NM_017747.2 NP_060217.1 Q8IWZ3 ANKH1_HUMAN ankyrin repeat and KH domain containing 1 1808.0 cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60.0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATGCATTTCCTTTGGGTGCTCCAACT 0.406 0 SO:0001589 frameshift_variant AF521882 CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1 5q31.3 2013-01-10 ENSG00000131503 ENSG00000131503 54882.0 54882.0 """Ankyrin repeat domain containing""" 24714.0 protein-coding gene gene with protein product 610500 10470851, 11230166, 16098192 Standard NM_017747 NM_017747 Approved MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085 Q8IWZ3 OTTHUMG00000161610 ENST00000360839.2:c.5423_5429delCTTTGGG 5.__UNKNOWN__:g.139907954_139907960delCTTTGGG ENSP00000354085:p.Pro1808fs A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7 __UNKNOWN__ CCDS4225.1 ANKHD1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000251672.1 + ENST00000360839.2 Frame_Shift_Del DEL PCPG-TCGA-WB-A81E-Normal-SM-5EMLY SNHG14 0 broad.mit.edu 37 15 25442755 25442755 + RNA DEL G G - TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr15:25442755delG ENST00000424208.1 + 0.0 1636 SNHG14_ENST00000424333.1_RNA|SNORD115-15_ENST00000364809.1_RNA NR_003305.1 small nucleolar RNA host gene 14 (non-protein coding) ATGTTCTGAAGAGAGGTGATG 0.498 0 462.0 460.0 461.0 15 25442755.0 876.0 1991.0 2867.0 15q11.2 2014-01-17 2011-08-22 2011-08-22 ENSG00000224078 ENSG00000224078 """Long non-coding RNAs""" 37462.0 non-coding RNA RNA, long non-coding """non-protein coding RNA 214""" """UBE3A antisense RNA 1 (non-protein coding)""" UBE3A-AS1 23771028 Standard Approved NCRNA00214, UBE3A-AS OTTHUMG00000056661 ENST00000424208.1: 15.__UNKNOWN__:g.25442755delG __UNKNOWN__ SNHG14-002 KNOWN basic antisense processed_transcript OTTHUMT00000126729.2 + ENST00000424208.1 RNA DEL PCPG-TCGA-WB-A81E-Normal-SM-5EMLY Unknown 441442 bcgsc.ca 37 9 68358357 68358357 + RNA SNP C C T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr9:68358357C>T RP11-149F8.5 (17713 upstream) : RP11-764K9.1 (39520 downstream) GGCTTCAAGTCTGTCACCAGG 0.557 0 SO:0001628 intergenic_variant 9.__UNKNOWN__:g.68358357C>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY AGRN 375790 ucsc.edu 37 1 980831 980831 + Missense_Mutation SNP A A G TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr1:980831A>G ENST00000379370.2 + 14.0 2514 c.2464A>G c.(2464-2466)Agg>Ggg p.R822G NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 822.0 Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}. axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808) basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202) acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200) breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42.0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|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) GGGGGGCCTCAGGTGTGACCG 0.657 0 48.0 46.0 47.0 1 980831.0 2203.0 4300.0 6503.0 SO:0001583 missense XM_372195 CCDS30551.1 1p36.33 2014-09-17 2007-02-16 ENSG00000188157 ENSG00000188157 375790.0 375790.0 """Proteoglycans / Extracellular Matrix : Other""" 329.0 protein-coding gene gene with protein product """agrin proteoglycan""" 103320 1851019, 12270958 Standard NM_198576 NM_198576 Approved AGRIN uc001ack.2 O00468 OTTHUMG00000040778 ENST00000379370.2:c.2464A>G 1.__UNKNOWN__:g.980831A>G ENSP00000368678:p.Arg822Gly Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4 __UNKNOWN__ CCDS30551.1 . . . . . . . . . . A 14.93 2.683283 0.47991 . . ENSG00000188157 ENST00000379370 T 0.62788 -0.0 5.36 1.43 0.22495 EGF-like, laminin (4);EGF-like region, conserved site (1); 0.073979 0.51477 D 0.000100 T 0.71796 0.3382 M 0.88105 2.93 0.30862 N 0.733383 B 0.31256 0.316 B 0.40444 0.329 T 0.76049 -0.3101 10 0.66056 D 0.02 -22.9074 14.1377 0.65297 0.5137:0.4863:0.0:0.0 . 822 O00468 AGRIN_HUMAN G 822 ENSP00000368678:R822G ENSP00000368678:R822G R + 1 2 AGRN 970694 1.000000 0.71417 0.980000 0.43619 0.282000 0.26991 2.051000 0.41307 0.323000 0.23307 -1.236000 0.01555 AGG AGRN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097990.2 + ENST00000379370.2 Missense_Mutation SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY SRPK3 5365 ucsc.edu 37 X 153043694 153043694 + Silent SNP G G A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chrX:153043694G>A ENST00000489426.1 + 0.0 768 PLXNB3_ENST00000485980.1_Intron|PLXNB3_ENST00000361971.5_Intron|PLXNB3_ENST00000538966.1_Intron|PLXNB3_ENST00000538776.1_Intron Q9UPE1 SRPK3_HUMAN SRSF protein kinase 3 cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1) 13.0 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) CATGCCTAGCGCCTCCCCTCC 0.622 Esophageal Squamous(167;766 3400 32156) 0 G , 2,3832 0,2,1630,570 51.0 45.0 47.0 , -8.6 0.0 X 47.0 0,6728 0,0,2428,1872 no intron,intron PLXNB3 NM_001163257.1,NM_005393.2 , 0,2,4058,2442 AA,AG,GG,G 0.0,0.0522,0.0189 , , 153043694.0 2,10560 2202.0 4300.0 6502.0 SO:0001623 5_prime_UTR_variant AF027406 CCDS35441.1, CCDS55537.1, CCDS55538.1 Xq28 2010-06-23 2010-06-23 2006-08-17 ENSG00000184343 ENSG00000184343 26576.0 26576.0 11402.0 protein-coding gene gene with protein product """serine/threonine kinase 23"", ""SFRS protein kinase 3""" STK23 16140986 Standard NM_014370 NM_014370 Approved MSSK1 uc004fil.3 Q9UPE1 OTTHUMG00000024207 ENST00000489426.1:c.-1599G>A X.__UNKNOWN__:g.153043694G>A Q13583|Q4F970|Q562F5|Q9UM62 __UNKNOWN__ . . . . . . . . . . G 6.195 0.404225 0.11754 5.22E-4 0.0 ENSG00000198753 ENST00000448847 . . . 4.61 -8.6 0.00889 . . . . . T 0.14743 0.0356 . . . 0.09310 N 1 . . . . . . T 0.16867 -1.0388 4 . . . . 1.259 0.01997 0.2874:0.3323:0.2168:0.1635 . . . . H 155 . . R + 2 0 PLXNB3 152696888 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.775000 0.04679 -2.171000 0.00775 -0.395000 0.06472 CGC SRPK3-007 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000354502.1 + ENST00000489426.1 5'UTR SNP PCPG-TCGA-WB-A81E-Normal-SM-5EMLY UGT2B11 10720 broad.mit.edu 37 4 70079903 70079903 + Missense_Mutation SNP T T C rs147658117 TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr4:70079903T>C ENST00000446444.1 - 1.0 546 c.538A>G c.(538-540)Att>Gtt p.I180V RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 180.0 estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) glucuronosyltransferase activity (GO:0015020) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42.0 TGCCTTTCAATTGTGTAGCCA 0.428 0 T VAL/ILE 0,4406 0,0,2203 119.0 113.0 115.0 538 -3.9 0.0 4 dbSNP_134 115.0 1,8597 0,1,4298 no missense UGT2B11 NM_001073.1 29 0,1,6501 CC,CT,TT 0.0116,0.0,0.0077 benign 180/530 70079903.0 1,13003 2203.0 4299.0 6502.0 SO:0001583 missense AF016492 CCDS3527.1 4q13.3 2008-02-05 2005-07-20 ENSG00000213759 ENSG00000213759 10720.0 10720.0 """UDP glucuronosyltransferases""" 12545.0 protein-coding gene gene with protein product 603064 """UDP glycosyltransferase 2 family, polypeptide B11""" 9675083 Standard NM_001073 NM_001073 Approved uc003heh.3 O75310 OTTHUMG00000129395 ENST00000446444.1:c.538A>G 4.__UNKNOWN__:g.70079903T>C ENSP00000387683:p.Ile180Val Q3KNV9 __UNKNOWN__ CCDS3527.1 . . . . . . . . . . - 0 -2.827463 0.00071 0.0 1.16E-4 ENSG00000213759 ENST00000446444 T 0.59364 0.27 1.96 -3.91 0.04168 . 0.899723 0.09229 U 0.830834 T 0.33440 0.0863 N 0.21373 0.66 0.09310 N 1 B 0.02656 0.0 B 0.10450 0.005 T 0.05451 -1.0884 10 0.32370 T 0.25 . 0.1902 0.00133 0.2435:0.1699:0.2496:0.337 . 180 O75310 UDB11_HUMAN V 180 ENSP00000387683:I180V ENSP00000387683:I180V I - 1 0 UGT2B11 70114492 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.982000 0.01489 -3.351000 0.00181 -3.107000 0.00063 ATT UGT2B11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251551.2 - ENST00000446444.1 Missense_Mutation SNP PCPG-TCGA-WB-A81F-Normal-SM-5EMMN GBP1 2633 broad.mit.edu 37 1 89528883 89528883 + Missense_Mutation SNP C C T TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr1:89528883C>T ENST00000370473.4 - 2.0 254 c.35G>A c.(34-36)tGc>tAc p.C12Y NM_002053.2 NP_002044.2 P32455 GBP1_HUMAN guanylate binding protein 1, interferon-inducible 12.0 GTPase domain (Globular). cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333) cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802) endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30.0 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) CTCAATGAGGCACATTGGGCC 0.483 0 123.0 114.0 117.0 1 89528883.0 2203.0 4300.0 6503.0 SO:0001583 missense BC002666 CCDS718.1 1p22.2 2011-03-09 2011-03-09 ENSG00000117228 ENSG00000117228 2633.0 2633.0 4182.0 protein-coding gene gene with protein product 600411 """guanylate binding protein 1, interferon-inducible, 67kDa""" 7518790 Standard NM_002053 NM_002053 Approved uc001dmx.2 P32455 OTTHUMG00000010614 ENST00000370473.4:c.35G>A 1.__UNKNOWN__:g.89528883C>T ENSP00000359504:p.Cys12Tyr D3DT26|Q5T8M1 __UNKNOWN__ CCDS718.1 . . . . . . . . . . C 14.54 2.566967 0.45694 . . ENSG00000117228 ENST00000370473 T 0.61392 0.11 4.32 4.32 0.51571 . 0.000000 0.85682 D 0.000000 T 0.75796 0.3898 M 0.91972 3.26 0.38582 D 0.950206 D 0.89917 1.0 D 0.77004 0.989 T 0.82540 -0.0406 10 0.66056 D 0.02 . 14.2897 0.66268 0.0:1.0:0.0:0.0 . 12 P32455 GBP1_HUMAN Y 12 ENSP00000359504:C12Y ENSP00000359504:C12Y C - 2 0 GBP1 89301471 1.000000 0.71417 0.996000 0.52242 0.185000 0.23345 5.572000 0.67411 1.959000 0.56917 0.313000 0.20887 TGC GBP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000029289.3 - ENST00000370473.4 Missense_Mutation SNP PCPG-TCGA-WB-A81F-Normal-SM-5EMMN STAG1 10274 broad.mit.edu 37 3 136170963 136170963 + Missense_Mutation SNP G G C TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr3:136170963G>C ENST00000236698.5 - 14.0 1606 c.1340C>G c.(1339-1341)gCa>gGa p.A447G STAG1_ENST00000536929.1_Missense_Mutation_p.A31G|STAG1_ENST00000383202.2_Missense_Mutation_p.A447G|STAG1_ENST00000434713.2_Missense_Mutation_p.A221G Q8WVM7 STAG1_HUMAN stromal antigen 1 447.0 chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067) cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682) 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) 58.0 TGCTTCTTCTGCTTGTGGGTC 0.393 0 123.0 110.0 114.0 3 136170963.0 2203.0 4300.0 6503.0 SO:0001583 missense Z75330 CCDS3090.1 3q22.2-q22.3 2011-08-12 ENSG00000118007 ENSG00000118007 10274.0 10274.0 11354.0 protein-coding gene gene with protein product 604358 9305759 Standard NM_005862 XM_006713471 Approved SA-1, SCC3A uc003era.1 Q8WVM7 OTTHUMG00000159798 ENST00000236698.5:c.1340C>G 3.__UNKNOWN__:g.136170963G>C ENSP00000236698:p.Ala447Gly O00539|Q6P275 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 19.90|19.90 3.913131|3.913131 0.72983|0.72983 .|. .|. ENSG00000118007|ENSG00000118007 ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929|ENST00000492318 T;T;T;T|. 0.33216|. 1.77;1.77;1.78;1.42|. 5.51|5.51 5.51|5.51 0.81932|0.81932 Armadillo-type fold (1);|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.54415|0.54415 0.1857|0.1857 N|N 0.19112|0.19112 0.55|0.55 0.80722|0.80722 D|D 1|1 B;D;B|. 0.58970|. 0.001;0.984;0.005|. B;D;B|. 0.68192|. 0.001;0.956;0.01|. T|T 0.48833|0.48833 -0.9000|-0.9000 10|5 0.21014|. T|. 0.42|. .|. 19.4087|19.4087 0.94660|0.94660 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 464;447;447|. Q4LE48;Q6P275;Q8WVM7|. .;.;STAG1_HUMAN|. G|E 447;447;221;31|58 ENSP00000372689:A447G;ENSP00000236698:A447G;ENSP00000404396:A221G;ENSP00000445787:A31G|. ENSP00000236698:A447G|. A|Q -|- 2|1 0|0 STAG1|STAG1 137653653|137653653 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.999000|0.999000 0.98932|0.98932 9.869000|9.869000 0.99810|0.99810 2.588000|2.588000 0.87417|0.87417 0.591000|0.591000 0.81541|0.81541 GCA|CAG STAG1-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000357403.1 - ENST00000236698.5 Missense_Mutation SNP PCPG-TCGA-WB-A81F-Normal-SM-5EMMN KIF13B 23303 broad.mit.edu 37 8 28997654 28997654 + Missense_Mutation SNP T T C TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr8:28997654T>C ENST00000524189.1 - 21.0 2577 c.2539A>G c.(2539-2541)Agg>Ggg p.R847G CTD-2647L4.1_ENST00000523661.1_RNA|CTD-2647L4.1_ENST00000517632.1_RNA NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 847.0 metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110) axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874) 14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901) endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28.0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) CCTGCGATCCTCTCCCCAACA 0.542 0 61.0 64.0 63.0 8 28997654.0 2179.0 4273.0 6452.0 SO:0001583 missense AB014539 CCDS55217.1 8p21 2008-07-30 ENSG00000197892 23303.0 23303.0 """Kinesins""" 14405.0 protein-coding gene gene with protein product 607350 9734811, 10859302, 16864656 Standard NM_015254 Approved GAKIN, KIAA0639 uc003xhh.4 Q9NQT8 ENST00000524189.1:c.2539A>G 8.__UNKNOWN__:g.28997654T>C ENSP00000427900:p.Arg847Gly B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6 __UNKNOWN__ CCDS55217.1 . . . . . . . . . . T 7.686 0.690138 0.15039 . . ENSG00000197892 ENST00000524189 T 0.76578 -1.03 4.8 3.64 0.41730 . 0.188993 0.53938 D 0.000049 T 0.67951 0.2948 L 0.39566 1.225 0.80722 D 1 B 0.06786 0.001 B 0.11329 0.006 T 0.65146 -0.6239 10 0.36615 T 0.2 . 11.4907 0.50379 0.0:0.0:0.2642:0.7358 . 847 F8VPJ2 . G 847 ENSP00000427900:R847G ENSP00000427900:R847G R - 1 2 KIF13B 29053573 0.504000 0.26123 0.622000 0.29159 0.009000 0.06853 0.788000 0.26872 2.015000 0.59207 0.533000 0.62120 AGG KIF13B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000376878.1 - ENST00000524189.1 Missense_Mutation SNP PCPG-TCGA-WB-A81F-Normal-SM-5EMMN CEP164 22897 broad.mit.edu 37 11 117280555 117280555 + Missense_Mutation SNP T T G TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr11:117280555T>G ENST00000278935.3 + 30.0 4117 c.3970T>G c.(3970-3972)Tta>Gta p.L1324V CEP164_ENST00000533706.1_3'UTR NM_001271933.1|NM_014956.4 NP_001258862.1|NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 1324.0 cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067) centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634) breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47.0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GTTCTCAGCCTTATCATCTGC 0.657 0 105.0 101.0 102.0 11 117280555.0 2201.0 4296.0 6497.0 SO:0001583 missense AB028975 CCDS31683.1 11q23.3 2014-02-20 ENSG00000110274 ENSG00000110274 22897.0 22897.0 29182.0 protein-coding gene gene with protein product 614848 10470851, 14654843 Standard NM_014956 NM_014956 Approved KIAA1052, NPHP15 uc001prc.3 Q9UPV0 OTTHUMG00000167070 ENST00000278935.3:c.3970T>G 11.__UNKNOWN__:g.117280555T>G ENSP00000278935:p.Leu1324Val Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6 __UNKNOWN__ CCDS31683.1 . . . . . . . . . . T 8.904 0.956949 0.18507 . . ENSG00000110274 ENST00000278935 T 0.22743 1.94 4.28 -1.92 0.07618 . 1.757040 0.03484 N 0.215571 T 0.15349 0.0370 L 0.34521 1.04 0.09310 N 1 B;B 0.15473 0.013;0.013 B;B 0.17098 0.017;0.017 T 0.25641 -1.0126 10 0.22109 T 0.4 4.5061 6.1029 0.20057 0.0:0.36:0.4401:0.1999 . 1324;1319 Q9UPV0;Q9UPV0-2 CE164_HUMAN;. V 1324 ENSP00000278935:L1324V ENSP00000278935:L1324V L + 1 2 CEP164 116785765 0.000000 0.05858 0.045000 0.18777 0.093000 0.18481 0.045000 0.14013 -0.171000 0.10797 0.459000 0.35465 TTA CEP164-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000392893.1 + ENST00000278935.3 Missense_Mutation SNP PCPG-TCGA-WB-A81F-Normal-SM-5EMMN EBF3 253738 broad.mit.edu 37 10 131639196 131639196 + Silent SNP A A G TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr10:131639196A>G ENST00000355311.5 - 14.0 1545 c.1473T>C c.(1471-1473)aaT>aaC p.N491N EBF3_ENST00000368648.3_Silent_p.N482N Q9H4W6 COE3_HUMAN early B-cell factor 3 491.0 Pro/Ser/Thr-rich. multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44.0 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TTCCATATCCATTCATGCTAG 0.562 0 170.0 157.0 161.0 10 131639196.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS31314.1 10q26.3 2007-03-30 ENSG00000108001 ENSG00000108001 253738.0 253738.0 19087.0 protein-coding gene gene with protein product 607407 12355068 Standard NM_001005463 NM_001005463 Approved COE3, DKFZp667B0210 uc001lki.2 Q9H4W6 OTTHUMG00000019265 ENST00000355311.5:c.1473T>C 10.__UNKNOWN__:g.131639196A>G A0AUY1|Q5T6H9|Q9H4W5 __UNKNOWN__ . . . . . . . . . . A 8.873 0.949873 0.18431 . . ENSG00000108001 ENST00000440978 . . . 4.7 0.96 0.19631 . . . . . T 0.55784 0.1942 . . . 0.80722 D 1 . . . . . . T 0.46105 -0.9215 4 . . . -11.865 8.7993 0.34898 0.7773:0.0:0.2227:0.0 . . . . R 53 . . W - 1 0 EBF3 131529186 0.999000 0.42202 0.999000 0.59377 0.999000 0.98932 0.766000 0.26560 -0.002000 0.14469 0.533000 0.62120 TGG EBF3-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000051015.2 - ENST00000355311.5 Silent SNP PCPG-TCGA-WB-A81F-Normal-SM-5EMMN UPK1B 7348 bcgsc.ca 37 3 118906737 118906737 + Missense_Mutation SNP G G A TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr3:118906737G>A ENST00000497685.1 + 0.0 238 UPK1B_ENST00000460625.1_Missense_Mutation_p.G62D|UPK1B_ENST00000264234.3_Missense_Mutation_p.G62D O75841 UPK1B_HUMAN uroplakin 1B epithelial cell differentiation (GO:0030855) apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) structural molecule activity (GO:0005198) breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 14.0 GBM - Glioblastoma multiforme(114;0.222) GCCTGGATCGGCATATTTGTG 0.502 0 175.0 148.0 157.0 3 118906737.0 2203.0 4300.0 6503.0 SO:0001623 5_prime_UTR_variant AF082888 CCDS2985.1 3q13.32 2013-02-14 ENSG00000114638 ENSG00000114638 7348.0 7348.0 """Tetraspanins""" 12578.0 protein-coding gene gene with protein product 602380 UPK1 9935153, 9846985 Standard NM_006952 Approved TSPAN20 uc003ecc.3 O75841 OTTHUMG00000159354 ENST00000497685.1:c.-56G>A 3.__UNKNOWN__:g.118906737G>A O60753|Q9UIM2|Q9UNX6 __UNKNOWN__ . . . . . . . . . . G 24.1 4.498082 0.85069 . . ENSG00000114638 ENST00000264234;ENST00000479520;ENST00000494855;ENST00000460625 T;T;T;T 0.79653 -1.29;-1.29;-1.29;-1.29 5.52 5.52 0.82312 . 0.237884 0.34628 N 0.003801 D 0.85133 0.5627 L 0.44542 1.39 0.46203 D 0.998926 D;D 0.64830 0.994;0.983 D;P 0.63192 0.912;0.875 D 0.83617 0.0137 9 . . . -27.7565 18.0522 0.89353 0.0:0.0:1.0:0.0 . 62;62 C9J9M7;O75841 .;UPK1B_HUMAN D 62 ENSP00000264234:G62D;ENSP00000418399:G62D;ENSP00000418597:G62D;ENSP00000418116:G62D . G + 2 0 UPK1B 120389427 1.000000 0.71417 0.995000 0.50966 0.881000 0.50899 5.214000 0.65236 2.595000 0.87683 0.655000 0.94253 GGC UPK1B-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000354884.1 + ENST00000497685.1 5'UTR SNP PCPG-TCGA-WB-A81F-Normal-SM-5EMMN CPA4 51200 ucsc.edu 37 7 129945682 129945682 + Silent SNP G G A TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr7:129945682G>A ENST00000222482.4 + 6.0 541 c.513G>A c.(511-513)cgG>cgA p.R171R CPA4_ENST00000493259.1_Silent_p.R67R|CPA4_ENST00000445470.2_Silent_p.R138R NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 171.0 histone acetylation (GO:0016573) extracellular region (GO:0005576) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21.0 Melanoma(18;0.0435) GCGTGAGGCGGCCGGCCGTTT 0.587 0 67.0 63.0 64.0 7 129945682.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF095719 CCDS5818.1, CCDS55163.1 7q32 2008-07-18 ENSG00000128510 ENSG00000128510 51200.0 51200.0 15740.0 protein-coding gene gene with protein product """carboxypeptidase A3""" 607635 10383164, 10860668 Standard NM_016352 NM_016352 Approved CPA3 uc003vpr.3 Q9UI42 OTTHUMG00000157825 ENST00000222482.4:c.513G>A 7.__UNKNOWN__:g.129945682G>A B7Z576|Q86UY9 __UNKNOWN__ CCDS5818.1 CPA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000349725.1 + ENST00000222482.4 Silent SNP PCPG-TCGA-WB-A81F-Normal-SM-5EMMN KLHDC1 122773 ucsc.edu 37 14 50196263 50196263 + Missense_Mutation SNP G G A TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr14:50196263G>A ENST00000359332.2 + 8.0 797 c.707G>A c.(706-708)gGa>gAa p.G236E KLHDC1_ENST00000554512.1_3'UTR NM_172193.2 NP_751943.1 Q8N7A1 KLDC1_HUMAN kelch domain containing 1 236.0 cytoplasm (GO:0005737) kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 12.0 all_epithelial(31;0.00244)|Breast(41;0.00964) ACTTGGTCTGGAAGGTAAGTT 0.358 0 111.0 100.0 104.0 14 50196263.0 2203.0 4299.0 6502.0 SO:0001583 missense AF111806 CCDS9692.1 14q21.3 2007-08-01 ENSG00000197776 ENSG00000197776 122773.0 122773.0 19836.0 protein-coding gene gene with protein product 611281 Standard NM_172193 NM_172193 Approved MST025 uc001www.3 Q8N7A1 OTTHUMG00000140295 ENST00000359332.2:c.707G>A 14.__UNKNOWN__:g.50196263G>A ENSP00000352282:p.Gly236Glu B3KXD9|Q8WYI1 __UNKNOWN__ CCDS9692.1 . . . . . . . . . . G 13.37 2.216858 0.39201 . . ENSG00000197776 ENST00000359332;ENST00000557128 T;T 0.63913 -0.07;-0.07 5.78 5.78 0.91487 Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1); 0.056748 0.64402 D 0.000001 T 0.51295 0.1666 N 0.01015 -1.05 0.53005 D 0.999963 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.998 T 0.55811 -0.8082 10 0.02654 T 1 -11.8813 19.9959 0.97383 0.0:0.0:1.0:0.0 . 107;236 G3V3T1;Q8N7A1 .;KLDC1_HUMAN E 236;107 ENSP00000352282:G236E;ENSP00000451407:G107E ENSP00000352282:G236E G + 2 0 KLHDC1 49266013 1.000000 0.71417 1.000000 0.80357 0.972000 0.66771 6.628000 0.74262 2.737000 0.93849 0.585000 0.79938 GGA KLHDC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276882.2 + ENST00000359332.2 Missense_Mutation SNP PCPG-TCGA-WB-A81F-Normal-SM-5EMMN STAB1 23166 ucsc.edu 37 3 52552363 52552363 + Missense_Mutation SNP C C A TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr3:52552363C>A ENST00000321725.6 + 46.0 4873 c.4797C>A c.(4795-4797)agC>agA p.S1599R NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1599.0 FAS1 5. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}. cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898) endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044) 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) 76.0 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) CATTCTTCAGCCTCCGCCTCC 0.637 0 30.0 35.0 33.0 3 52552363.0 2203.0 4297.0 6500.0 SO:0001583 missense AJ275213 CCDS33768.1 3p21.31 2008-07-18 ENSG00000010327 ENSG00000010327 23166.0 23166.0 18628.0 protein-coding gene gene with protein product """MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1""" 608560 11829752, 12077138 Standard NM_015136 XM_005264973 Approved KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1 uc003dej.3 Q9NY15 OTTHUMG00000158574 ENST00000321725.6:c.4797C>A 3.__UNKNOWN__:g.52552363C>A ENSP00000312946:p.Ser1599Arg A7E297|Q8IUH0|Q8IUH1|Q93072 __UNKNOWN__ CCDS33768.1 . . . . . . . . . . C 13.09 2.133495 0.37630 . . ENSG00000010327 ENST00000321725 D 0.84660 -1.88 4.43 3.56 0.40772 FAS1 domain (3); 0.493908 0.19711 N 0.107802 T 0.75140 0.3809 L 0.29908 0.895 0.43091 D 0.994769 P 0.36392 0.551 B 0.37601 0.254 T 0.69423 -0.5149 10 0.25106 T 0.35 . 8.4543 0.32890 0.0:0.8934:0.0:0.1066 . 1599 Q9NY15 STAB1_HUMAN R 1599 ENSP00000312946:S1599R ENSP00000312946:S1599R S + 3 2 STAB1 52527403 0.002000 0.14202 1.000000 0.80357 0.828000 0.46876 -0.501000 0.06398 1.217000 0.43442 0.655000 0.94253 AGC STAB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351380.2 + ENST00000321725.6 Missense_Mutation SNP PCPG-TCGA-WB-A81F-Normal-SM-5EMMN TTC3 7267 ucsc.edu 37 21 38560843 38560843 + Silent SNP G G A TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr21:38560843G>A ENST00000399017.2 + 39.0 7718 c.4971G>A c.(4969-4971)caG>caA p.Q1657Q TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Silent_p.Q1657Q|TTC3_ENST00000354749.2_Silent_p.Q1657Q NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1657.0 negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511) mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) 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) 75.0 Myeloproliferative disorder(46;0.0412) ATAAGCTACAGATCATGGAGT 0.428 Ovarian(38;194 1649 35661) 0 94.0 85.0 88.0 21 38560843.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D84296 CCDS13651.1 21q22.2 2013-01-11 ENSG00000182670 ENSG00000182670 7267.0 7267.0 """RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing""" 12393.0 protein-coding gene gene with protein product 602259 8947847 Standard NM_003316 Approved TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105 uc002yvz.3 P53804 OTTHUMG00000086654 ENST00000399017.2:c.4971G>A 21.__UNKNOWN__:g.38560843G>A A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4 __UNKNOWN__ CCDS13651.1 TTC3-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000194776.1 + ENST00000399017.2 Silent SNP PCPG-TCGA-WB-A81F-Normal-SM-5EMMN SLC35G5 83650 hgsc.bcm.edu 37 8 11189387 11189387 + Missense_Mutation SNP G G A TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr8:11189387G>A ENST00000382435.4 + 1.0 991 c.772G>A c.(772-774)Gca>Aca p.A258T NM_001282300.1|NM_054028.1 NP_001269229.1|NP_473369.1 Q96KT7 S35G5_HUMAN solute carrier family 35, member G5 258.0 integral component of membrane (GO:0016021) p.A258T(1) TTGTGTGGGGGCAGAGGGGAT 0.632 1 Substitution - Missense(1) skin(1) 113.0 111.0 111.0 8 11189387.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ291677 CCDS5980.1 8p23.1 2013-05-22 2011-08-03 2011-08-03 ENSG00000177710 ENSG00000177710 83650.0 83650.0 """Solute carriers""" 15546.0 protein-coding gene gene with protein product 615199 """acyl-malonyl condensing enzyme 1-like 2""" AMAC, AMAC1L2 Standard NM_054028 NM_054028 Approved uc003wtp.1 Q96KT7 OTTHUMG00000090653 ENST00000382435.4:c.772G>A 8.__UNKNOWN__:g.11189387G>A ENSP00000371872:p.Ala258Thr A2RRL6 __UNKNOWN__ CCDS5980.1 . . . . . . . . . . G 9.059 0.994027 0.19043 . . ENSG00000177710 ENST00000382435 T 0.52983 0.64 . . . . 0.157695 0.28865 N 0.013888 T 0.37156 0.0993 M 0.61703 1.905 0.09310 N 1 B 0.10296 0.003 B 0.10450 0.005 T 0.22034 -1.0228 9 0.23302 T 0.38 -0.0577 5.8679 0.18786 8.0E-4:0.0:0.9992:0.0 . 258 Q96KT7 S35G5_HUMAN T 258 ENSP00000371872:A258T ENSP00000371872:A258T A + 1 0 SLC35G5 11226797 0.004000 0.15560 0.149000 0.22428 0.151000 0.21798 1.286000 0.33273 0.088000 0.17205 0.089000 0.15464 GCA SLC35G5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207313.2 + ENST00000382435.4 Missense_Mutation SNP PCPG-TCGA-WB-A81F-Normal-SM-5EMMN ELTD1 64123 broad.mit.edu 37 1 79401981 79401981 + Splice_Site SNP A A T TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr1:79401981A>T ENST00000370742.3 - 7.0 939 c.876T>A c.(874-876)aaT>aaA p.N292K NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 292.0 G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69.0 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) AAGTCCTACCATTTGAATCAT 0.269 0 106.0 112.0 110.0 1 79401981.0 1807.0 4027.0 5834.0 SO:0001630 splice_region_variant AF192403 CCDS41352.1 1p33-p32 2014-08-08 ENSG00000162618 ENSG00000162618 64123.0 64123.0 """-"", ""GPCR / Class B : Orphans""" 20822.0 protein-coding gene gene with protein product 11050079 Standard NM_022159 NM_022159 Approved ETL uc001diq.4 Q9HBW9 OTTHUMG00000009738 ENST00000370742.3:c.877+1T>A 1.__UNKNOWN__:g.79401981A>T B1AR71|Q5KU34 __UNKNOWN__ CCDS41352.1 . . . . . . . . . . A 9.222 1.033608 0.19590 . . ENSG00000162618 ENST00000370742 T 0.10477 2.87 5.86 -2.41 0.06562 Domain of unknown function DUF3497 (1); 0.391187 0.31519 N 0.007512 T 0.02012 0.0063 L 0.43923 1.385 0.30146 N 0.803503 B 0.18166 0.026 B 0.27500 0.08 T 0.43410 -0.9393 9 . . . . 0.8723 0.01217 0.471:0.1151:0.192:0.2219 . 292 Q9HBW9 ELTD1_HUMAN K 292 ENSP00000359778:N292K . N - 3 2 ELTD1 79174569 0.969000 0.33509 0.037000 0.18230 0.059000 0.15707 1.091000 0.30915 -0.369000 0.08028 0.533000 0.62120 AAT ELTD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000026859.1 Missense_Mutation - ENST00000370742.3 Splice_Site SNP PCPG-TCGA-WB-A81G-Normal-SM-5EMMR SCNN1B 0 broad.mit.edu 37 16 23387059 23387059 + Splice_Site SNP G G T TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr16:23387059G>T ENST00000568923.1 + 7.0 1080 c.1072G>T c.(1072-1074)Gcc>Tcc p.A358S SCNN1B_ENST00000343070.2_Splice_Site_p.A385S|SCNN1B_ENST00000568085.1_Splice_Site_p.A349S|SCNN1B_ENST00000307331.5_Splice_Site_p.A430S P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 385.0 excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706) ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699) 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) 32.0 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) CCCTCCCCAGGCCTGTCTTCG 0.557 0 186.0 150.0 162.0 16 23387059.0 2197.0 4300.0 6497.0 SO:0001630 splice_region_variant X87159 CCDS10609.1 16p12.2-p12.1 2012-02-28 2012-02-28 ENSG00000168447 ENSG00000168447 6338.0 """Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels""" 10600.0 protein-coding gene gene with protein product """Liddle syndrome""" 600760 """sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta""" Standard NM_000336 Approved ENaCbeta uc002dln.3 P51168 OTTHUMG00000131608 ENST00000568923.1:c.1072-1G>T 16.__UNKNOWN__:g.23387059G>T C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5 __UNKNOWN__ . . . . . . . . . . g 13.34 2.208992 0.39003 . . ENSG00000168447 ENST00000343070;ENST00000307331 T;T 0.66815 -0.23;-0.23 4.76 4.76 0.60689 Na+ channel, amiloride-sensitive, conserved site (1); 0.472610 0.20949 N 0.082787 T 0.62417 0.2426 L 0.43554 1.36 0.58432 D 0.999995 B 0.32876 0.388 B 0.40506 0.331 T 0.58994 -0.7537 9 . . . -13.5574 12.2562 0.54625 0.0:0.0:0.8301:0.1699 . 385 P51168 SCNNB_HUMAN S 385;430 ENSP00000345751:A385S;ENSP00000302874:A430S . A + 1 0 SCNN1B 23294560 1.000000 0.71417 1.000000 0.80357 0.815000 0.46073 4.131000 0.57970 2.343000 0.79666 0.651000 0.88453 GCC SCNN1B-007 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000434813.1 Missense_Mutation + ENST00000568923.1 Splice_Site SNP PCPG-TCGA-WB-A81G-Normal-SM-5EMMR SLC5A9 200010 broad.mit.edu 37 1 48708248 48708248 + Silent SNP A A G TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr1:48708248A>G ENST00000438567.2 + 13.0 1849 c.1797A>G c.(1795-1797)ggA>ggG p.G599G SLC5A9_ENST00000533824.1_Silent_p.G620G|SLC5A9_ENST00000236495.5_Silent_p.G624G|SLC5A9_ENST00000471020.1_3'UTR NM_001011547.2 NP_001011547.2 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 599.0 sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) transporter activity (GO:0005215) breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26.0 CAGGAGGTGGAGCGGCAGAGA 0.652 0 31.0 35.0 34.0 1 48708248.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BX648549 CCDS30709.2, CCDS44136.1 1p33 2013-07-19 2013-07-19 ENSG00000117834 ENSG00000117834 200010.0 200010.0 """Solute carriers""" 22146.0 protein-coding gene gene with protein product """solute carrier family 5 (sodium/glucose cotransporter), member 9""" Standard XM_117174 NM_001011547 Approved SGLT4 uc001crn.2 Q2M3M2 OTTHUMG00000007959 ENST00000438567.2:c.1797A>G 1.__UNKNOWN__:g.48708248A>G B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3 __UNKNOWN__ CCDS30709.2 SLC5A9-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000022061.3 + ENST00000438567.2 Silent SNP PCPG-TCGA-WB-A81G-Normal-SM-5EMMR UGT8 7368 broad.mit.edu 37 4 115544471 115544471 + Silent SNP T T C TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr4:115544471T>C ENST00000310836.6 + 2.0 957 c.435T>C c.(433-435)ttT>ttC p.F145F UGT8_ENST00000394511.3_Silent_p.F145F NM_001128174.1 NP_001121646 Q16880 CGT_HUMAN UDP glycosyltransferase 8 145.0 axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175) integral component of membrane (GO:0016021) 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31.0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) TGTGTGGATTTGTGATAGCTC 0.463 0 172.0 167.0 169.0 4 115544471.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK127970 CCDS3705.1 4q26 2013-02-21 2008-07-31 2005-07-20 ENSG00000174607 ENSG00000174607 7368.0 7368.0 2.4.1.45 """UDP glucuronosyltransferases""" 12555.0 protein-coding gene gene with protein product """2-hydroxyacylsphingosine 1-beta-galactosyltransferase""" 601291 """UDP-galactose ceramide galactosyltransferase""" CGT 8661025 Standard NM_003360 NM_003360 Approved uc003ibs.2 Q16880 OTTHUMG00000132915 ENST00000310836.6:c.435T>C 4.__UNKNOWN__:g.115544471T>C B3KXU7|O00196 __UNKNOWN__ CCDS3705.1 UGT8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256426.2 + ENST00000310836.6 Silent SNP PCPG-TCGA-WB-A81G-Normal-SM-5EMMR CTD-2583A14.9 147687 broad.mit.edu 37 19 58420525 58420525 + Missense_Mutation SNP T T C TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr19:58420525T>C ENST00000602124.1 - 3.0 441 ZNF417_ENST00000595559.1_Missense_Mutation_p.H373R|ZNF417_ENST00000312026.5_Missense_Mutation_p.H374R|ZNF417_ENST00000536263.1_Missense_Mutation_p.H175R TTCTCCAGTGTGAACACGCTG 0.463 0 133.0 125.0 128.0 19 58420525.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant ENST00000602124.1:c.34+2902A>G 19.__UNKNOWN__:g.58420525T>C __UNKNOWN__ . . . . . . . . . . . 15.93 2.978987 0.53827 . . ENSG00000173480 ENST00000312026;ENST00000536263 T;T 0.67523 -0.27;-0.27 1.66 1.66 0.24008 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . D 0.83390 0.5244 H 0.94423 3.535 0.30241 N 0.795025 P;D 0.67145 0.469;0.996 B;D 0.69824 0.329;0.966 T 0.77175 -0.2684 9 0.87932 D 0 . 7.3804 0.26851 0.0:0.0:0.0:1.0 . 374;374 F5H0M9;Q8TAU3 .;ZN417_HUMAN R 374;175 ENSP00000311319:H374R;ENSP00000442760:H175R ENSP00000311319:H374R H - 2 0 ZNF417 63112337 1.000000 0.71417 0.031000 0.17742 0.115000 0.19883 1.968000 0.40500 1.025000 0.39708 0.254000 0.18369 CAC CTD-2583A14.9-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay protein_coding OTTHUMT00000466981.1 - ENST00000602124.1 Intron SNP PCPG-TCGA-WB-A81G-Normal-SM-5EMMR SHKBP1 92799 broad.mit.edu 37 19 41094581 41094581 + Missense_Mutation SNP G G A TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr19:41094581G>A ENST00000291842.5 + 14.0 1437 c.1388G>A c.(1387-1389)gGc>gAc p.G463D SHKBP1_ENST00000600733.1_Missense_Mutation_p.G438D|SHKBP1_ENST00000597649.1_3'UTR NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 463.0 protein homooligomerization (GO:0051260) breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29.0 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CGCTTCCGCGGCATGATTTCC 0.607 0 153.0 138.0 143.0 19 41094581.0 2203.0 4300.0 6503.0 SO:0001583 missense AF258553 CCDS12560.1 19q13.2 2013-01-10 ENSG00000160410 92799.0 92799.0 """WD repeat domain containing""" 19214.0 protein-coding gene gene with protein product 11152963 Standard NM_138392 NM_138392 Approved PP203, Sb1 uc002oob.3 Q8TBC3 ENST00000291842.5:c.1388G>A 19.__UNKNOWN__:g.41094581G>A ENSP00000291842:p.Gly463Asp Q8N2I6|Q8WY93|Q96IB8 __UNKNOWN__ CCDS12560.1 . . . . . . . . . . G 22.1 4.240886 0.79912 . . ENSG00000160410 ENST00000291842;ENST00000446701 T 0.75589 -0.95 4.21 3.17 0.36434 WD40 repeat-like-containing domain (1); 0.000000 0.85682 D 0.000000 D 0.85754 0.5770 M 0.86178 2.8 0.80722 D 1 D;D;D;P;D;D 0.89917 1.0;1.0;1.0;0.95;1.0;0.957 D;D;D;P;D;P 0.97110 1.0;1.0;0.999;0.752;0.999;0.711 D 0.86888 0.2046 10 0.87932 D 0 -0.906 11.1437 0.48417 0.0927:0.0:0.9073:0.0 . 341;243;386;300;463;463 B4DLI0;B4DUW2;B4DUV2;B3KVX8;B2R6W9;Q8TBC3 .;.;.;.;.;SHKB1_HUMAN D 463;243 ENSP00000291842:G463D ENSP00000291842:G463D G + 2 0 SHKBP1 45786421 1.000000 0.71417 0.976000 0.42696 0.913000 0.54294 9.141000 0.94612 0.989000 0.38761 0.462000 0.41574 GGC SHKBP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000462613.2 + ENST00000291842.5 Missense_Mutation SNP PCPG-TCGA-WB-A81G-Normal-SM-5EMMR RP11-481J13.1 0 broad.mit.edu 37 2 56216166 56216166 + RNA SNP A A T TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr2:56216166A>T ENST00000606639.1 + 0.0 82 AC011306.2_ENST00000446139.1_lincRNA|MIR216A_ENST00000385063.1_RNA CACAGTTGCCAGCTGAGATTA 0.483 0 140.0 124.0 129.0 2 56216166.0 1568.0 3582.0 5150.0 ENST00000606639.1: 2.__UNKNOWN__:g.56216166A>T __UNKNOWN__ RP11-481J13.1-001 KNOWN basic lincRNA lincRNA OTTHUMT00000470754.1 + ENST00000606639.1 lincRNA SNP PCPG-TCGA-WB-A81G-Normal-SM-5EMMR AHRR 57491 broad.mit.edu 37 5 434411 434411 + Missense_Mutation SNP C C T TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr5:434411C>T ENST00000316418.5 + 12.0 1666 c.1622C>T c.(1621-1623)cCg>cTg p.P541L AHRR_ENST00000512529.1_Missense_Mutation_p.P369L|AHRR_ENST00000505113.1_Missense_Mutation_p.P523L|AHRR_ENST00000506456.1_Missense_Mutation_p.P379L NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 523.0 negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|signal transducer activity (GO:0004871) breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20.0 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) CCGATGCCTCCGGGGGACCTG 0.617 0 68.0 75.0 73.0 5 434411.0 2202.0 4299.0 6501.0 SO:0001583 missense AB033060 CCDS43297.1, CCDS56355.1 5p15.33 2013-05-21 2003-09-11 2003-09-12 ENSG00000063438 ENSG00000063438 57491.0 57491.0 """Basic helix-loop-helix proteins""" 346.0 protein-coding gene gene with protein product 606517 """aryl hydrocarbon receptor regulator""" AHH, AHHR 1070014, 11423533 Standard NM_020731 NM_020731 Approved KIAA1234, bHLHe77 uc003jaw.3 A9YTQ3 OTTHUMG00000162171 ENST00000316418.5:c.1622C>T 5.__UNKNOWN__:g.434411C>T ENSP00000323816:p.Pro541Leu A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6 __UNKNOWN__ CCDS43297.1 . . . . . . . . . . C 9.452 1.090857 0.20471 . . ENSG00000063438 ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456;ENST00000511487 T;T;T;T;T 0.50277 2.15;2.15;1.85;1.85;0.75 4.27 -1.12 0.09808 . 1.214040 0.05658 N 0.586331 T 0.27489 0.0675 N 0.17082 0.46 0.09310 N 1 B;B;B 0.34255 0.059;0.013;0.445 B;B;B 0.22386 0.012;0.003;0.039 T 0.12734 -1.0536 10 0.36615 T 0.2 . 8.6194 0.33851 0.0:0.5175:0.0:0.4825 . 379;523;541 D6RE68;A9YTQ3;A9YTQ3-2 .;AHRR_HUMAN;. L 523;541;369;379;178 ENSP00000424601:P523L;ENSP00000323816:P541L;ENSP00000424880:P369L;ENSP00000426932:P379L;ENSP00000426076:P178L ENSP00000323816:P541L P + 2 0 AHRR 487411 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 0.511000 0.22739 -0.542000 0.06249 -0.241000 0.12123 CCG AHRR-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000367719.2 + ENST00000316418.5 Missense_Mutation SNP PCPG-TCGA-WB-A81G-Normal-SM-5EMMR C1orf86 199990 broad.mit.edu 37 1 2125338 2125338 + Silent SNP G G A TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr1:2125338G>A ENST00000378546.4 - 3.0 234 c.210C>T c.(208-210)tgC>tgT p.C70C C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000378545.3_Silent_p.C173C|C1orf86_ENST00000487186.1_5'UTR NM_182533.2 NP_872339 Q6NZ36 FAP20_HUMAN chromosome 1 open reading frame 86 70.0 cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985) cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634) K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130) central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4.0 all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GCTCCGGGCCGCACCTGGGCT 0.652 0 46.0 55.0 52.0 1 2125338.0 2202.0 4300.0 6502.0 SO:0001819 synonymous_variant AK126870 CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1 1p36.33 2013-05-22 ENSG00000162585 ENSG00000162585 199990.0 199990.0 26428.0 protein-coding gene gene with protein product 615183 14702039 Standard NM_182533 NM_182533 Approved FLJ31031, FAAP20 uc031pkt.1 Q6NZ36 OTTHUMG00000001404 ENST00000378546.4:c.210C>T 1.__UNKNOWN__:g.2125338G>A A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7 __UNKNOWN__ CCDS38.2 . . . . . . . . . . G 9.490 1.100497 0.20552 . . ENSG00000162585 ENST00000378543;ENST00000420515 T 0.46063 0.88 2.95 0.662 0.17880 . . . . . T 0.24928 0.0605 . . . 0.09310 N 0.999999 P 0.46952 0.887 B 0.37780 0.258 T 0.27971 -1.0058 8 0.87932 D 0 -4.2572 0.8829 0.01238 0.1591:0.2301:0.3774:0.2334 . 66 Q6ZRT9 . V 25;70 ENSP00000367804:A25V ENSP00000367804:A25V A - 2 0 C1orf86 2115198 0.000000 0.05858 0.001000 0.08648 0.009000 0.06853 -0.339000 0.07832 0.500000 0.27991 0.462000 0.41574 GCG C1orf86-008 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000316541.1 - ENST00000378546.4 Silent SNP PCPG-TCGA-WB-A81G-Normal-SM-5EMMR NFE2L2 4780 broad.mit.edu 37 2 178095647 178095647 + Missense_Mutation SNP G G A TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr2:178095647G>A ENST00000446151.2 - 5.0 1787 c.1615C>T c.(1615-1617)Ctc>Ttc p.L539F NFE2L2_ENST00000464747.1_Missense_Mutation_p.L546F|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L546F|NFE2L2_ENST00000397062.3_Missense_Mutation_p.L562F Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 562.0 bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}. cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366) centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700) 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) 158.0 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) AAAACTTCGAGATATAAGGTG 0.363 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) Dom yes 2 2q31 4780.0 nuclear factor (erythroid-derived 2)-like 2 (NRF2) E 0 208.0 188.0 194.0 2 178095647.0 1854.0 4092.0 5946.0 SO:0001583 missense CCDS42782.1, CCDS46457.1, CCDS46458.1 2q31 2013-08-23 2013-08-23 ENSG00000116044 ENSG00000116044 4780.0 4780.0 """basic leucine zipper proteins""" 7782.0 protein-coding gene gene with protein product """NF-E2-related factor 2""" 600492 """nuclear factor (erythroid-derived 2)-like 2""" 7937919 Standard NM_006164 NM_006164 Approved NRF2 uc002ulh.5 Q16236 OTTHUMG00000133620 ENST00000446151.2:c.1615C>T 2.__UNKNOWN__:g.178095647G>A ENSP00000411575:p.Leu539Phe B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71 __UNKNOWN__ CCDS46458.1 . . . . . . . . . . G 16.49 3.138408 0.56936 . . ENSG00000116044 ENST00000397063;ENST00000397062;ENST00000446151 T;T;T 0.18502 2.22;2.21;2.21 6.03 6.03 0.97812 . 0.253980 0.41823 D 0.000815 T 0.31420 0.0796 L 0.57536 1.79 0.80722 D 1 D;D 0.59767 0.986;0.986 P;P 0.56916 0.809;0.809 T 0.00333 -1.1810 10 0.28530 T 0.3 -6.0507 14.5599 0.68128 0.0:0.0:0.7434:0.2566 . 539;562 E9PGJ7;Q16236 .;NF2L2_HUMAN F 546;562;539 ENSP00000380253:L546F;ENSP00000380252:L562F;ENSP00000411575:L539F ENSP00000380252:L562F L - 1 0 NFE2L2 177803893 1.000000 0.71417 0.997000 0.53966 0.895000 0.52256 5.642000 0.67888 2.881000 0.98747 0.650000 0.86243 CTC NFE2L2-008 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000334263.1 - ENST00000446151.2 Missense_Mutation SNP PCPG-TCGA-WB-A81G-Normal-SM-5EMMR ANKRD44 91526 broad.mit.edu 37 2 197987396 197987396 + Missense_Mutation SNP T T C TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr2:197987396T>C ENST00000328737.2 - 7.0 672 c.596A>G c.(595-597)cAt>cGt p.H199R ANKRD44_ENST00000450567.1_Missense_Mutation_p.H199R|ANKRD44_ENST00000409919.1_Missense_Mutation_p.H224R|ANKRD44_ENST00000409153.1_Missense_Mutation_p.H224R|ANKRD44_ENST00000282272.8_Missense_Mutation_p.H216R|ANKRD44_ENST00000337207.5_Missense_Mutation_p.H199R|ANKRD44_ENST00000539527.1_Missense_Mutation_p.H152R Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 224.0 NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45.0 OV - Ovarian serous cystadenocarcinoma(117;0.246) GTTCAGGAGATGCTTGACAAC 0.438 0 126.0 102.0 110.0 2 197987396.0 2203.0 4300.0 6503.0 SO:0001583 missense AK097086 CCDS33355.1, CCDS33355.2, CCDS74619.1 2q33.1 2013-01-10 ENSG00000065413 ENSG00000065413 91526.0 91526.0 """Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing""" 25259.0 protein-coding gene gene with protein product """protein phosphatase 6 ankyrin repeat subunit B""" Standard NM_153697 NM_153697 Approved PP6-ARS-B uc021vuj.1 Q8N8A2 OTTHUMG00000154411 ENST00000328737.2:c.596A>G 2.__UNKNOWN__:g.197987396T>C ENSP00000331516:p.His199Arg Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4 __UNKNOWN__ . . . . . . . . . . T 13.25 2.181141 0.38511 . . ENSG00000065413 ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919 T;T;T;T;T;T;T;T 0.63913 -0.07;-0.07;-0.06;-0.06;-0.06;-0.07;-0.06;-0.06 5.07 5.07 0.68467 . 0.000000 0.85682 D 0.000000 T 0.46502 0.1396 N 0.16567 0.415 0.41821 D 0.99002 B;P 0.40398 0.0;0.716 B;B 0.36567 0.006;0.228 T 0.54016 -0.8356 10 0.49607 T 0.09 . 15.2874 0.73838 0.0:0.0:0.0:1.0 . 152;224 F5H682;Q8N8A2-3 .;. R 21;216;199;199;199;224;152;224 ENSP00000403415:H21R;ENSP00000282272:H216R;ENSP00000331516:H199R;ENSP00000402420:H199R;ENSP00000338794:H199R;ENSP00000387141:H224R;ENSP00000437825:H152R;ENSP00000387233:H224R ENSP00000282272:H216R H - 2 0 ANKRD44 197695641 1.000000 0.71417 0.992000 0.48379 0.902000 0.53008 4.760000 0.62235 2.248000 0.74166 0.459000 0.35465 CAT ANKRD44-002 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000335113.1 - ENST00000328737.2 Missense_Mutation SNP PCPG-TCGA-WB-A81G-Normal-SM-5EMMR LAMA3 3909 broad.mit.edu 37 18 21523936 21523936 + Splice_Site SNP G G A TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr18:21523936G>A ENST00000313654.9 + 69.0 9451 c.e69+1 LAMA3_ENST00000588770.1_Splice_Site|LAMA3_ENST00000399516.3_Splice_Site|LAMA3_ENST00000587184.1_Splice_Site|LAMA3_ENST00000269217.6_Splice_Site NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610) structural molecule activity (GO:0005198) 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) 128.0 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) ATGGCACACGGTAAGAGCTGG 0.478 0 GRCh37 CS020062 LAMA3 S 63.0 56.0 58.0 18 21523936.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant L34155 CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1 18q11.2 2013-03-01 2002-08-29 ENSG00000053747 ENSG00000053747 3909.0 3909.0 """Laminins""" 6483.0 protein-coding gene gene with protein product 600805 """laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)""" LAMNA 8077230 Standard NM_000227, NM_198129 NM_000227 Approved nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin uc002kuq.3 Q16787 OTTHUMG00000131874 ENST00000313654.9:c.9210+1G>A 18.__UNKNOWN__:g.21523936G>A B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0 __UNKNOWN__ CCDS42419.1 . . . . . . . . . . G 20.9 4.073374 0.76415 . . ENSG00000053747 ENST00000313654;ENST00000399516;ENST00000269217 . . . 5.04 5.04 0.67666 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 18.5778 0.91161 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . LAMA3 19777934 1.000000 0.71417 1.000000 0.80357 0.820000 0.46376 7.408000 0.80041 2.617000 0.88574 0.655000 0.94253 . LAMA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254824.3 Intron + ENST00000313654.9 Splice_Site SNP PCPG-TCGA-WB-A81G-Normal-SM-5EMMR FANCL 55120 broad.mit.edu 37 2 58459209 58459209 + Silent SNP A A G TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr2:58459209A>G ENST00000402135.3 - 2.0 171 c.135T>C c.(133-135)gaT>gaC p.D45D FANCL_ENST00000403295.3_Silent_p.D45D|FANCL_ENST00000233741.4_Silent_p.D45D|FANCL_ENST00000540646.1_Silent_p.D45D|FANCL_ENST00000403676.1_Intron NM_001114636.1 NP_001108108.1 Q9NW38 FANCL_HUMAN Fanconi anemia, complementation group L 45.0 cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654) ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(1)|lung(4)|ovary(2) 8.0 TCAGTTGTAAATCTTCAGGCA 0.353 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 0 126.0 109.0 115.0 2 58459209.0 2202.0 4300.0 6502.0 SO:0001819 synonymous_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) AK001197 CCDS1860.1, CCDS46294.1 2p16.1 2014-09-17 2003-10-14 2003-10-15 ENSG00000115392 ENSG00000115392 55120.0 55120.0 """Zinc fingers, PHD-type"", ""Fanconi anemia, complementation groups""" 20748.0 protein-coding gene gene with protein product 608111 """PHD finger protein 9""" PHF9 Standard NM_018062 NM_018062 Approved FLJ10335, FAAP43, Pog uc002rzx.4 Q9NW38 OTTHUMG00000129349 ENST00000402135.3:c.135T>C 2.__UNKNOWN__:g.58459209A>G Q6GU60 __UNKNOWN__ CCDS46294.1 . . . . . . . . . . A 10.29 1.310350 0.23821 . . ENSG00000115392 ENST00000427708 . . . 6.01 4.66 0.58398 . . . . . T 0.58524 0.2128 . . . 0.80722 D 1 . . . . . . T 0.54735 -0.8249 4 . . . -16.2943 8.0451 0.30545 0.8776:0.0:0.1224:0.0 . . . . L 45 . . F - 1 0 FANCL 58312713 1.000000 0.71417 0.986000 0.45419 0.967000 0.64934 2.381000 0.44336 0.889000 0.36185 0.533000 0.62120 TTT FANCL-002 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000325254.1 - ENST00000402135.3 Silent SNP PCPG-TCGA-WB-A81G-Normal-SM-5EMMR DCN 1634 broad.mit.edu 37 12 91550888 91550888 + Missense_Mutation SNP G G A TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr12:91550888G>A ENST00000052754.5 - 5.0 1117 c.616C>T c.(616-618)Cgc>Tgc p.R206C DCN_ENST00000441303.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.R97C|DCN_ENST00000552962.1_Missense_Mutation_p.R206C|DCN_ENST00000393155.1_Missense_Mutation_p.R206C|DCN_ENST00000456569.2_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.R97C|DCN_ENST00000425043.1_Intron|DCN_ENST00000547568.2_Intron NM_001920.3 NP_001911.1 P07585 PGS2_HUMAN decorin 206.0 aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060) collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822) central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20.0 TCAGCAATGCGGATGTAGGAG 0.378 0 137.0 131.0 133.0 12 91550888.0 2203.0 4300.0 6503.0 SO:0001583 missense AF138300 CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1 12q21.33 2014-04-16 ENSG00000011465 ENSG00000011465 1634.0 1634.0 """Proteoglycans / Extracellular Matrix : Small leucine-rich repeats""" 2705.0 protein-coding gene gene with protein product """decorin proteoglycan""" 125255 8432526 Standard NM_133507 NM_133507 Approved DSPG2, SLRR1B uc001tbt.3 P07585 OTTHUMG00000169998 ENST00000052754.5:c.616C>T 12.__UNKNOWN__:g.91550888G>A ENSP00000052754:p.Arg206Cys Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9 __UNKNOWN__ CCDS9039.1 . . . . . . . . . . G 22.1 4.250378 0.80024 . . ENSG00000011465 ENST00000052754;ENST00000228329;ENST00000393155;ENST00000552962;ENST00000420120 T;T;T;T;T 0.58060 0.36;3.57;0.36;0.36;3.57 5.69 4.76 0.60689 . 0.000000 0.85682 D 0.000000 T 0.76716 0.4026 M 0.89478 3.035 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 0.999;1.0 T 0.81324 -0.0984 10 0.72032 D 0.01 . 16.085 0.81038 0.0:0.0:0.8656:0.1344 . 206;97 P07585;P07585-2 PGS2_HUMAN;. C 206;97;206;206;97 ENSP00000052754:R206C;ENSP00000228329:R97C;ENSP00000376862:R206C;ENSP00000447654:R206C;ENSP00000413723:R97C ENSP00000052754:R206C R - 1 0 DCN 90075019 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 6.175000 0.71949 2.666000 0.90696 0.585000 0.79938 CGC DCN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406799.3 - ENST00000052754.5 Missense_Mutation SNP PCPG-TCGA-WB-A81G-Normal-SM-5EMMR ZNF185 7739 broad.mit.edu 37 X 152085712 152085712 + Splice_Site SNP C C A TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chrX:152085712C>A ENST00000370270.2 + 4.0 262 c.262C>A c.(262-264)Cgg>Agg p.R88R ZNF185_ENST00000370268.4_Splice_Site_p.R88R|ZNF185_ENST00000449285.2_Splice_Site_p.R88R|ZNF185_ENST00000318504.7_Splice_Site_p.R88R|ZNF185_ENST00000539731.1_Splice_Site_p.R88R|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000535861.1_Splice_Site_p.R88R O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 88.0 actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12.0 Acute lymphoblastic leukemia(192;6.56e-05) CTACATCATCCGGTAAGTGAC 0.622 0 69.0 73.0 72.0 X 152085712.0 2067.0 4177.0 6244.0 SO:0001630 splice_region_variant AK056517 CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1 Xq28 2012-08-08 ENSG00000147394 ENSG00000147394 7739.0 7739.0 """Zinc fingers, C2H2-type""" 12976.0 protein-coding gene gene with protein product 300381 9268636 Standard NM_007150 NM_001178106 Approved uc011myg.2 O15231 OTTHUMG00000024187 ENST00000370270.2:c.263+1C>A X.__UNKNOWN__:g.152085712C>A A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2 __UNKNOWN__ CCDS55529.1 ZNF185-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000472688.1 Silent + ENST00000370270.2 Splice_Site SNP PCPG-TCGA-WB-A81G-Normal-SM-5EMMR OSMR 9180 broad.mit.edu 37 5 38904125 38904128 + Splice_Site DEL AAGT AAGT - TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr5:38904125_38904128delAAGT ENST00000274276.3 + 8.0 1535_1536 c.1133_1134delAAGT c.(1132-1134)caa>c p.Q378fs NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 378.0 Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}. cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097) oncostatin-M receptor complex (GO:0005900) growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46.0 all_lung(31;0.000365) AAAATGATGCAAGTAAGAACCCTG 0.343 0 SO:0001630 splice_region_variant U60805 CCDS3928.1, CCDS54847.1 5p13.2 2013-02-11 ENSG00000145623 ENSG00000145623 9180.0 9180.0 """Fibronectin type III domain containing""" 8507.0 protein-coding gene gene with protein product 601743 8999038 Standard NM_003999 NM_001168355 Approved OSMRB uc003jln.2 Q99650 OTTHUMG00000090811 ENST00000274276.3:c.1134+1AAGT>- 5.__UNKNOWN__:g.38904125_38904128delAAGT Q6P4E8|Q96QJ6 __UNKNOWN__ CCDS3928.1 OSMR-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000207609.2 Frame_Shift_Del + ENST00000274276.3 Splice_Site DEL PCPG-TCGA-WB-A81G-Normal-SM-5EMMR NAV3 89795 broad.mit.edu 37 12 78443848 78443848 + Missense_Mutation SNP T T C TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr12:78443848T>C ENST00000536525.2 + 10.0 2272 c.2099T>C c.(2098-2100)aTg>aCg p.M700T NAV3_ENST00000266692.7_Missense_Mutation_p.M700T|NAV3_ENST00000397909.2_Missense_Mutation_p.M700T|NAV3_ENST00000228327.6_Missense_Mutation_p.M700T NM_014903.4 NP_055718.4 Q8IVL0 NAV3_HUMAN neuron navigator 3 700.0 membrane (GO:0016020)|nuclear envelope (GO:0005635) 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) 236.0 GAAGAGACTATGTCCAGTCTT 0.328 HNSCC(70;0.22) 0 87.0 84.0 85.0 12 78443848.0 1831.0 4082.0 5913.0 SO:0001583 missense AB023155 CCDS41815.1, CCDS66432.1 12q14.3 2008-08-05 ENSG00000067798 89795.0 89795.0 15998.0 protein-coding gene gene with protein product """pore membrane and/or filament interacting like protein 1"", ""steerin 3""" 611629 12079279, 12062803 Standard NM_001024383 XM_005269215 Approved KIAA0938, POMFIL1 uc001syo.3 Q8IVL0 OTTHUMG00000170001 ENST00000536525.2:c.2099T>C 12.__UNKNOWN__:g.78443848T>C ENSP00000446132:p.Met700Thr Q8NFW7|Q9Y2E7 __UNKNOWN__ CCDS41815.1 . . . . . . . . . . T 24.6 4.548369 0.86127 . . ENSG00000067798 ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692 T;T;T;T 0.14144 2.53;2.53;2.53;2.53 5.58 5.58 0.84498 . 0.000000 0.48767 U 0.000174 T 0.38480 0.1042 M 0.75615 2.305 0.80722 D 1 D;D;D 0.89917 1.0;0.99;0.992 D;D;D 0.85130 0.997;0.957;0.974 T 0.11867 -1.0570 9 . . . -19.6633 15.758 0.78051 0.0:0.0:0.0:1.0 . 700;700;700 E7EUC6;Q8IVL0;Q8IVL0-2 .;NAV3_HUMAN;. T 700 ENSP00000446132:M700T;ENSP00000381007:M700T;ENSP00000228327:M700T;ENSP00000266692:M700T . M + 2 0 NAV3 76967979 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 8.040000 0.89188 2.127000 0.65507 0.528000 0.53228 ATG NAV3-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000406811.1 + ENST00000536525.2 Missense_Mutation SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX MUC5B 727897 broad.mit.edu 37 11 1269120 1269120 + Missense_Mutation SNP C C A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr11:1269120C>A ENST00000529681.1 + 31.0 11068 c.11010C>A c.(11008-11010)caC>caA p.H3670Q RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.H3673Q NM_002458.2 NP_002449.2 Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3670.0 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). {ECO:0000305}. cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137.0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACTACGGCCACTGCCCCAGCA 0.597 0 53.0 72.0 66.0 11 1269120.0 1974.0 4120.0 6094.0 SO:0001583 missense U95031, AF086604 CCDS44515.1, CCDS44515.2 11p15.5 2007-01-19 2006-03-14 ENSG00000117983 727897.0 727897.0 """Mucins""" 7516.0 protein-coding gene gene with protein product 600770 """mucin 5, subtype B, tracheobronchial""" MUC5 9804771 Standard XM_001126093 NM_002458 Approved MG1 uc001lta.3 Q9HC84 ENST00000529681.1:c.11010C>A 11.__UNKNOWN__:g.1269120C>A ENSP00000436812:p.His3670Gln O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28 __UNKNOWN__ CCDS44515.2 . . . . . . . . . . C 9.657 1.142995 0.21205 . . ENSG00000117983 ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844 T;T 0.15372 2.43;2.62 3.35 1.41 0.22369 . . . . . T 0.26085 0.0636 L 0.34521 1.04 0.09310 N 1 D;B 0.63046 0.992;0.148 D;B 0.69824 0.966;0.022 T 0.09400 -1.0676 9 0.87932 D 0 . 7.4236 0.27085 0.0:0.7042:0.0:0.2958 . 4198;3673 A7Y9J9;E9PBJ0 .;. Q 3670;3673;3642;3575 ENSP00000436812:H3670Q;ENSP00000415793:H3673Q ENSP00000343037:H3642Q H + 3 2 MUC5B 1225696 0.000000 0.05858 0.003000 0.11579 0.001000 0.01503 0.786000 0.26844 0.238000 0.21222 -0.616000 0.04050 CAC MUC5B-002 NOVEL basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000390041.2 + ENST00000529681.1 Missense_Mutation SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX LANCL1 10314 broad.mit.edu 37 2 211302429 211302429 + Silent SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr2:211302429G>A ENST00000443314.1 - 6.0 1200 c.858C>T c.(856-858)ctC>ctT p.L286L LANCL1_ENST00000431941.2_Silent_p.L286L|LANCL1_ENST00000233714.4_Silent_p.L286L|LANCL1_ENST00000441020.3_Silent_p.L286L|LANCL1_ENST00000450366.2_Silent_p.L286L|AC007970.1_ENST00000433296.1_RNA|AC007970.1_ENST00000420418.1_RNA O43813 LANC1_HUMAN LanC lantibiotic synthetase component C-like 1 (bacterial) 286.0 G-protein coupled receptor signaling pathway (GO:0007186) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634) catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270) breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12.0 Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569) AGGCCTGGATGAGCATGTAGA 0.358 0 63.0 62.0 63.0 2 211302429.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant Y11395 CCDS2392.1 2q33-q35 2008-05-23 2001-12-04 ENSG00000115365 ENSG00000115365 10314.0 10314.0 6508.0 protein-coding gene gene with protein product 604155 """LanC (bacterial lantibiotic synthetase component C)-like 1""" GPR69A 9512664 Standard NM_006055 NM_001136574 Approved p40 uc010zjh.2 O43813 OTTHUMG00000132991 ENST00000443314.1:c.858C>T 2.__UNKNOWN__:g.211302429G>A __UNKNOWN__ CCDS2392.1 LANCL1-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000336817.1 - ENST00000443314.1 Silent SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX RPS6KC1 26750 broad.mit.edu 37 1 213415627 213415627 + Missense_Mutation SNP A A T TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr1:213415627A>T ENST00000366959.3 + 10.0 2922 c.2772A>T c.(2770-2772)ttA>ttT p.L924F RPS6KC1_ENST00000366960.3_Missense_Mutation_p.L936F|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.L639F|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.L724F|RPS6KC1_ENST00000490299.1_3'UTR NM_001136138.1 NP_001129610.1 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 936.0 Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}. signal transduction (GO:0007165) cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020) ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674) breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43.0 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) ACAACATCTTATTGAATGATA 0.398 0 83.0 86.0 85.0 1 213415627.0 2145.0 4265.0 6410.0 SO:0001583 missense AF037447 CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1 1q41 2011-04-05 2002-08-29 ENSG00000136643 ENSG00000136643 26750.0 26750.0 10439.0 protein-coding gene gene with protein product """ribosomal protein S6 kinase, 52kD, polypeptide 1""" 10552933 Standard NM_012424 XM_005273095 Approved humS6PKh1 uc010ptr.2 Q96S38 OTTHUMG00000036926 ENST00000366959.3:c.2772A>T 1.__UNKNOWN__:g.213415627A>T ENSP00000355926:p.Leu924Phe B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66 __UNKNOWN__ CCDS44317.1 . . . . . . . . . . A 15.84 2.951589 0.53186 . . ENSG00000136643 ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354 T;T;T;T 0.79554 -1.28;-1.28;-1.28;-1.28 5.75 5.75 0.90469 Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.64402 D 0.000001 D 0.88746 0.6520 M 0.69185 2.1 0.53688 D 0.999976 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 0.999;1.0;1.0 D 0.89836 0.3999 10 0.87932 D 0 -25.6382 16.0707 0.80928 1.0:0.0:0.0:0.0 . 724;936;924 F5H7T0;Q96S38;B1APS8 .;KS6C1_HUMAN;. F 724;936;924;639 ENSP00000442306:L724F;ENSP00000355927:L936F;ENSP00000355926:L924F;ENSP00000439282:L639F ENSP00000355926:L924F L + 3 2 RPS6KC1 211482250 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 3.602000 0.54066 2.194000 0.70268 0.533000 0.62120 TTA RPS6KC1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000089691.1 + ENST00000366959.3 Missense_Mutation SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX GPX4 2879 broad.mit.edu 37 19 1105248 1105248 + Missense_Mutation SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr19:1105248G>A ENST00000354171.8 + 2.0 255 c.148G>A c.(148-150)Gac>Aac p.D50N GPX4_ENST00000589115.1_Missense_Mutation_p.D50N NM_001039847.1|NM_002085.3 NP_001034936.1|NP_002076.2 P36969 GPX4_HUMAN glutathione peroxidase 4 50.0 aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|chromatin organization (GO:0006325)|glutathione metabolic process (GO:0006749)|hydrogen peroxide catabolic process (GO:0042744)|lipoxygenase pathway (GO:0019372)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|phospholipid metabolic process (GO:0006644)|regulation of inflammatory response (GO:0050727)|response to estradiol (GO:0032355)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634) glutathione binding (GO:0043295)|glutathione peroxidase activity (GO:0004602)|phospholipid-hydroperoxide glutathione peroxidase activity (GO:0047066)|selenium binding (GO:0008430) endometrium(1)|kidney(2) 3.0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;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) Glutathione(DB00143) CAAGGACATCGACGGGCACAT 0.682 0 40.0 43.0 42.0 19 1105248.0 2023.0 4156.0 6179.0 SO:0001583 missense BC039849, X71973 CCDS42457.1 19p13.3 2012-03-01 2012-03-01 ENSG00000167468 2879.0 2879.0 4556.0 protein-coding gene gene with protein product """phospholipid hydroperoxidase""" 138322 """glutathione peroxidase 4 (phospholipid hydroperoxidase)""" 8287691, 8039723, 10464096 Standard NM_002085 NM_002085 Approved PHGPx, MCSP uc021umh.1 P36969 ENST00000354171.8:c.148G>A 19.__UNKNOWN__:g.1105248G>A ENSP00000346103:p.Asp50Asn O43381|Q6PJ59|Q9UPK2 __UNKNOWN__ CCDS42457.1 . . . . . . . . . . G 15.02 2.710279 0.48517 . . ENSG00000167468 ENST00000354171 T 0.03860 3.78 3.79 3.79 0.43588 Thioredoxin-like fold (2); . . . . T 0.06462 0.0166 L 0.49256 1.55 0.42091 D 0.991295 B;B;B 0.28378 0.048;0.209;0.209 B;B;B 0.27500 0.014;0.08;0.08 T 0.26087 -1.0113 9 0.44086 T 0.13 . 12.4993 0.55946 0.0:0.0:1.0:0.0 . 23;50;50 P36969-2;Q6PI42;P36969 .;.;GPX4_HUMAN N 50 ENSP00000346103:D50N ENSP00000346103:D50N D + 1 0 GPX4 1056248 1.000000 0.71417 0.998000 0.56505 0.106000 0.19336 4.237000 0.58681 1.947000 0.56498 0.561000 0.74099 GAC GPX4-002 KNOWN basic|appris_principal|CCDS|seleno protein_coding protein_coding OTTHUMT00000458052.1 + ENST00000354171.8 Missense_Mutation SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX OR8H3 390152 broad.mit.edu 37 11 55890365 55890365 + Missense_Mutation SNP A A G TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr11:55890365A>G ENST00000313472.3 + 1.0 517 c.517A>G c.(517-519)Ata>Gta p.I173V NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 173.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42.0 Esophageal squamous(21;0.00693) TGACTCAAACATAATTCATCA 0.438 0 252.0 226.0 235.0 11 55890365.0 2201.0 4296.0 6497.0 SO:0001583 missense AB065840 CCDS31519.1 11q11 2012-08-09 ENSG00000181761 ENSG00000181761 390152.0 390152.0 """GPCR / Class A : Olfactory receptors""" 15309.0 protein-coding gene gene with protein product Standard NM_001005201 NM_001005201 Approved uc001nii.1 Q8N146 OTTHUMG00000166833 ENST00000313472.3:c.517A>G 11.__UNKNOWN__:g.55890365A>G ENSP00000323928:p.Ile173Val Q6IFB7 __UNKNOWN__ CCDS31519.1 . . . . . . . . . . A 0 -2.713031 0.00094 . . ENSG00000181761 ENST00000313472 T 0.00099 8.73 3.19 0.0377 0.14197 GPCR, rhodopsin-like superfamily (1); 0.419315 0.20509 N 0.090935 T 0.00039 0.0001 N 0.03253 -0.375 0.09310 N 1 B 0.02656 0.0 B 0.04013 0.001 T 0.34502 -0.9826 10 0.02654 T 1 . 5.0106 0.14310 0.355:0.0:0.5102:0.1348 . 173 Q8N146 OR8H3_HUMAN V 173 ENSP00000323928:I173V ENSP00000323928:I173V I + 1 0 OR8H3 55646941 0.000000 0.05858 0.041000 0.18516 0.339000 0.28857 -0.476000 0.06591 -0.104000 0.12154 0.145000 0.16022 ATA OR8H3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000391541.1 + ENST00000313472.3 Missense_Mutation SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX PROL1 58503 broad.mit.edu 37 4 71275374 71275374 + Missense_Mutation SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr4:71275374G>A ENST00000399575.2 + 3.0 503 c.329G>A c.(328-330)aGa>aAa p.R110K PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 110.0 Pro-rich. negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895) extracellular region (GO:0005576)|extracellular space (GO:0005615) endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15.0 all_hematologic(202;0.196) TTCCCACTAAGACCTTACTAT 0.403 0 212.0 202.0 205.0 4 71275374.0 1860.0 4102.0 5962.0 SO:0001583 missense S83198 CCDS43235.1 4q13.3 2011-10-28 2005-02-07 ENSG00000171199 ENSG00000171199 58503.0 58503.0 17279.0 protein-coding gene gene with protein product 608936 """proline rich 1""" 8670737 Standard NM_021225 NM_021225 Approved BPLP, PRL1, opiorphin uc003hfi.3 Q99935 OTTHUMG00000160845 ENST00000399575.2:c.329G>A 4.__UNKNOWN__:g.71275374G>A ENSP00000382485:p.Arg110Lys A8MZ07|P85047 __UNKNOWN__ CCDS43235.1 . . . . . . . . . . G 5.150 0.213272 0.09757 . . ENSG00000171199 ENST00000399575 . . . 1.97 -0.549 0.11829 . . . . . T 0.32406 0.0828 L 0.48642 1.525 0.09310 N 1 B 0.27166 0.17 B 0.32583 0.148 T 0.41980 -0.9478 8 0.87932 D 0 . 1.7832 0.03036 0.2956:0.0:0.4074:0.297 . 110 Q99935 PROL1_HUMAN K 110 . ENSP00000382485:R110K R + 2 0 PROL1 71309963 0.000000 0.05858 0.010000 0.14722 0.027000 0.11550 -0.540000 0.06106 -0.173000 0.10761 0.591000 0.81541 AGA PROL1-001 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000362639.1 + ENST00000399575.2 Missense_Mutation SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX CYP4F2 8529 broad.mit.edu 37 19 16000403 16000403 + Missense_Mutation SNP T T C TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr19:16000403T>C ENST00000221700.6 - 7.0 843 c.748A>G c.(748-750)Acc>Gcc p.T250A CYP4F2_ENST00000011989.7_Missense_Mutation_p.T101A NM_001082.3 NP_001073.3 cytochrome P450, family 4, subfamily F, polypeptide 2 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) 46.0 CCATCAGGGGTGAGATAATAC 0.557 0 117.0 114.0 115.0 19 16000403.0 2203.0 4300.0 6503.0 SO:0001583 missense U02388 CCDS12336.1 19p13.12 2013-11-11 2003-01-14 ENSG00000186115 ENSG00000186115 8529.0 8529.0 """Cytochrome P450s""" 2645.0 protein-coding gene gene with protein product 604426 """cytochrome P450, subfamily IVF, polypeptide 2""" 8424651, 8026587 Standard NM_001082 NM_001082 Approved uc002nbs.1 P78329 OTTHUMG00000185995 ENST00000221700.6:c.748A>G 19.__UNKNOWN__:g.16000403T>C ENSP00000221700:p.Thr250Ala __UNKNOWN__ CCDS12336.1 . . . . . . . . . . t 14.96 2.690354 0.48097 . . ENSG00000186115 ENST00000221700;ENST00000392846;ENST00000011989 T;T 0.69926 -0.44;1.56 2.72 2.72 0.32119 . 0.184388 0.34110 U 0.004252 T 0.79137 0.4395 M 0.92738 3.34 0.20489 N 0.999895 P;P 0.47545 0.854;0.897 P;P 0.56648 0.803;0.734 T 0.70443 -0.4870 10 0.87932 D 0 . 5.1112 0.14809 0.2632:0.0:0.0:0.7368 . 101;250 B4DV75;P78329 .;CP4F2_HUMAN A 250;101;101 ENSP00000221700:T250A;ENSP00000011989:T101A ENSP00000011989:T101A T - 1 0 CYP4F2 15861403 0.984000 0.35163 0.100000 0.21137 0.039000 0.13416 1.034000 0.30204 1.226000 0.43582 0.254000 0.18369 ACC CYP4F2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000460372.3 - ENST00000221700.6 Missense_Mutation SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX HS3ST3B1 9953 broad.mit.edu 37 17 14204904 14204904 + Silent SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr17:14204904G>A ENST00000360954.2 + 1.0 505 c.69G>A c.(67-69)ccG>ccA p.P23P NM_006041.1 NP_006032.1 Q9Y662 HS3SB_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 23.0 carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887) [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872) large_intestine(3)|lung(3)|skin(1) 7.0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0887) CGCAgccgccgccgcccccgc 0.726 0 8.0 12.0 10.0 17 14204904.0 1894.0 3804.0 5698.0 SO:0001819 synonymous_variant AF105377 CCDS11167.1 17p12 2007-04-02 ENSG00000125430 ENSG00000125430 9953.0 9953.0 2.8.2.23 """Sulfotransferases, membrane-bound""" 5198.0 protein-coding gene gene with protein product 604058 9988767 Standard NM_006041 NM_006041 Approved 3OST3B1, 30ST3B1 uc002goh.1 Q9Y662 OTTHUMG00000058810 ENST00000360954.2:c.69G>A 17.__UNKNOWN__:g.14204904G>A B3KN58|D3DTS6 __UNKNOWN__ CCDS11167.1 HS3ST3B1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000129998.1 + ENST00000360954.2 Silent SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX ZNF438 220929 broad.mit.edu 37 10 31137681 31137681 + Silent SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr10:31137681G>A ENST00000361310.3 - 6.0 1982 c.1653C>T c.(1651-1653)agC>agT p.S551S ZNF438_ENST00000375311.1_Silent_p.S115S|ZNF438_ENST00000444692.2_Silent_p.S541S|ZNF438_ENST00000331737.6_Silent_p.S541S|ZNF438_ENST00000436087.2_Silent_p.S551S|ZNF438_ENST00000413025.1_Silent_p.S551S|ZNF438_ENST00000442986.1_Silent_p.S551S|ZNF438_ENST00000452305.1_Silent_p.S541S|ZNF438_ENST00000538351.2_Silent_p.S502S Q7Z4V0 ZN438_HUMAN zinc finger protein 438 551.0 negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35.0 Prostate(175;0.0587) TCATGTGTGTGCTCAGGCTGC 0.473 0 226.0 218.0 221.0 10 31137681.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK057323 CCDS7168.1, CCDS44369.1, CCDS53504.1 10p11.23 2006-02-15 ENSG00000183621 ENSG00000183621 220929.0 220929.0 """Zinc fingers, C2H2-type""" 21029.0 protein-coding gene gene with protein product Standard NM_182755 NM_182755 Approved bA330O11.1 uc010qeb.2 Q7Z4V0 OTTHUMG00000017904 ENST00000361310.3:c.1653C>T 10.__UNKNOWN__:g.31137681G>A A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65 __UNKNOWN__ CCDS7168.1 ZNF438-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000277006.1 - ENST00000361310.3 Silent SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX SYNE1 23345 broad.mit.edu 37 6 152472814 152472814 + Silent SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr6:152472814G>A ENST00000367255.5 - 135.0 24925 c.24324C>T c.(24322-24324)ggC>ggT p.G8108G SYNE1_ENST00000356820.4_Silent_p.G2632G|SYNE1_ENST00000539504.1_Silent_p.G263G|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Silent_p.G263G|SYNE1_ENST00000265368.4_Silent_p.G8108G|SYNE1_ENST00000423061.1_Silent_p.G8037G|SYNE1_ENST00000448038.1_Silent_p.G8037G|SYNE1_ENST00000341594.5_Silent_p.G7720G NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8108.0 cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993) actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) 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) 524.0 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCTCACGCTGGCCAATAAAAT 0.428 HNSCC(10;0.0054) 0 33.0 33.0 33.0 6 152472814.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB018339 CCDS5235.1, CCDS5236.1, CCDS5236.2 6q24.2-q25.3 2014-09-17 ENSG00000131018 ENSG00000131018 23345.0 23345.0 17089.0 protein-coding gene gene with protein product """myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1""" 608441 """chromosome 6 open reading frame 98""" C6orf98 9872452, 10878022 Standard NM_182961 NM_182961 Approved SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1 uc003qou.4 Q8NF91 OTTHUMG00000015841 ENST00000367255.5:c.24324C>T 6.__UNKNOWN__:g.152472814G>A E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8 __UNKNOWN__ CCDS5236.2 SYNE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000334755.2 - ENST00000367255.5 Silent SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX POM121C 100101267 broad.mit.edu 37 7 75066839 75066839 + Missense_Mutation SNP C C T TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr7:75066839C>T ENST00000453279.2 - 7.0 1298 c.434G>A c.(433-435)cGc>cAc p.R145H POM121C_ENST00000257665.5_Missense_Mutation_p.R387H NM_001099415.1 NP_001092885 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 387.0 Pore side. {ECO:0000255}.|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex. mRNA transport (GO:0051028)|protein transport (GO:0015031) endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14.0 AATGGCATTGCGGCTGGAGCT 0.502 0 203.0 207.0 205.0 7 75066839.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS47617.1 7q11.23 2012-03-13 2012-03-13 ENSG00000135213 ENSG00000272391 100101267.0 100101267.0 34005.0 protein-coding gene gene with protein product 615754 """POM121 membrane glycoprotein C""" 17900573 Standard NM_001099415 NM_001099415 Approved uc003udk.4 A8CG34 OTTHUMG00000156238 ENST00000453279.2:c.434G>A 7.__UNKNOWN__:g.75066839C>T ENSP00000414208:p.Arg145His O75115|Q9Y2N3|Q9Y4S7 __UNKNOWN__ CCDS47617.1 . . . . . . . . . . C 21.1 4.091739 0.76756 . . ENSG00000135213 ENST00000257665;ENST00000453279;ENST00000439629 T;T;T 0.20881 2.04;2.04;2.04 4.17 4.17 0.49024 . 0.000000 0.42294 D 0.000726 T 0.33527 0.0866 M 0.64567 1.98 0.39228 D 0.963624 D 0.63880 0.993 P 0.51945 0.685 T 0.35375 -0.9791 10 0.87932 D 0 . 14.0157 0.64523 0.0:1.0:0.0:0.0 . 387 A8CG34 P121C_HUMAN H 387;145;17 ENSP00000257665:R387H;ENSP00000414208:R145H;ENSP00000410033:R17H ENSP00000257665:R387H R - 2 0 POM121C 74904775 1.000000 0.71417 1.000000 0.80357 0.736000 0.42039 5.989000 0.70587 2.050000 0.60909 0.505000 0.49811 CGC POM121C-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000343744.2 - ENST00000453279.2 Missense_Mutation SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX TMEM144 55314 broad.mit.edu 37 4 159158779 159158779 + Silent SNP A A G TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr4:159158779A>G ENST00000296529.6 + 9.0 1186 c.666A>G c.(664-666)gcA>gcG p.A222A TMEM144_ENST00000503404.1_3'UTR NM_018342.4 NP_060812.2 Q7Z5S9 TM144_HUMAN transmembrane protein 144 222.0 integral component of membrane (GO:0016021) autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1) 19.0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) GTATATATGCAGGGGCAAGCC 0.323 0 56.0 58.0 57.0 4 159158779.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK002017 CCDS3799.1 4q32.1 2008-02-05 ENSG00000164124 ENSG00000164124 55314.0 55314.0 25633.0 protein-coding gene gene with protein product 12477932 Standard NM_018342 NM_018342 Approved FLJ11155 uc003ipx.3 Q7Z5S9 OTTHUMG00000162013 ENST00000296529.6:c.666A>G 4.__UNKNOWN__:g.159158779A>G D3DP24|Q49A05|Q9NUT3 __UNKNOWN__ CCDS3799.1 TMEM144-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000365597.1 + ENST00000296529.6 Silent SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX ZNF512B 57473 broad.mit.edu 37 20 62597735 62597735 + Missense_Mutation SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr20:62597735G>A ENST00000450537.1 - 5.0 853 c.793C>T c.(793-795)Ccg>Tcg p.P265S ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S|ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S Q96KM6 Z512B_HUMAN zinc finger protein 512B 265.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33.0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TTGGTGACCGGCACAGACTTG 0.572 0 380.0 396.0 391.0 20 62597735.0 2203.0 4300.0 6503.0 SO:0001583 missense AB033022 CCDS13548.1 20q13.33 2011-02-09 ENSG00000196700 ENSG00000196700 57473.0 57473.0 29212.0 protein-coding gene gene with protein product 10574462 Standard NM_020713 NM_020713 Approved GM632, MGC149845, MGC149846 uc002yhl.2 Q96KM6 OTTHUMG00000033008 ENST00000450537.1:c.793C>T 20.__UNKNOWN__:g.62597735G>A ENSP00000393795:p.Pro265Ser Q08AK9|Q9ULM4 __UNKNOWN__ CCDS13548.1 . . . . . . . . . . G 3.396 -0.123279 0.06795 . . ENSG00000196700 ENST00000369888;ENST00000450537;ENST00000217130 T;T;T 0.25414 1.8;1.8;1.8 4.55 0.0704 0.14378 . 0.871399 0.09535 N 0.788968 T 0.14056 0.0340 N 0.21448 0.665 0.09310 N 1 B 0.09022 0.002 B 0.08055 0.003 T 0.31475 -0.9942 10 0.62326 D 0.03 -4.9126 1.5918 0.02656 0.1931:0.1639:0.4745:0.1684 . 265 Q96KM6 Z512B_HUMAN S 265 ENSP00000358904:P265S;ENSP00000393795:P265S;ENSP00000217130:P265S ENSP00000217130:P265S P - 1 0 ZNF512B 62068179 0.002000 0.14202 0.000000 0.03702 0.027000 0.11550 0.302000 0.19192 0.133000 0.18654 0.650000 0.86243 CCG ZNF512B-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080246.1 - ENST00000450537.1 Missense_Mutation SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX DLX4 0 broad.mit.edu 37 17 48046950 48046950 + Missense_Mutation SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr17:48046950G>A ENST00000505318.2 + 1.0 257 c.118G>A c.(118-120)Gca>Aca p.A40T DLX4_ENST00000503410.1_Intron|DLX4_ENST00000240306.3_Missense_Mutation_p.A40T Q92988 DLX4_HUMAN distal-less homeobox 4 40.0 MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9). {ECO:0000305}. multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3) 10.0 CCCTACAACCGCAGCCTCCCC 0.662 0 88.0 88.0 88.0 17 48046950.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS11555.1, CCDS45728.1 17q21.33 2011-06-20 ENSG00000108813 ENSG00000108813 1748.0 """Homeoboxes / ANTP class : NKL subclass""" 2917.0 protein-coding gene gene with protein product 601911 DLX7, DLX9 Standard NM_138281 Approved DLX8, BP1 uc002ipv.3 Q92988 OTTHUMG00000161839 ENST00000505318.2:c.118G>A 17.__UNKNOWN__:g.48046950G>A ENSP00000474516:p.Ala40Thr D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0 __UNKNOWN__ . . . . . . . . . . G 14.49 2.550093 0.45383 . . ENSG00000108813 ENST00000240306 D 0.91351 -2.83 4.01 1.76 0.24704 . . . . . T 0.78329 0.4266 N 0.24115 0.695 0.80722 D 1 B 0.23490 0.086 B 0.15870 0.014 T 0.65245 -0.6215 9 0.11794 T 0.64 -2.0E-4 4.6144 0.12418 0.141:0.2216:0.6374:0.0 . 40 Q92988 DLX4_HUMAN T 40 ENSP00000240306:A40T ENSP00000240306:A40T A + 1 0 DLX4 45401949 0.992000 0.36948 1.000000 0.80357 0.963000 0.63663 0.422000 0.21296 0.820000 0.34516 0.462000 0.41574 GCA DLX4-005 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000366218.2 + ENST00000505318.2 Missense_Mutation SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX DIXDC1 85458 broad.mit.edu 37 11 111853098 111853098 + Silent SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr11:111853098G>A ENST00000389821.4 + 0.0 1101 DIXDC1_ENST00000315253.5_Silent_p.R57R|DIXDC1_ENST00000440460.2_Silent_p.R268R Q155Q3 DIXC1_HUMAN DIX domain containing 1 camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055) axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234) gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435) cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 17.0 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) GAGACTGGCGGCCAGGGAGCC 0.423 OREG0021331 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 38.0 41.0 40.0 11 111853098.0 1857.0 4097.0 5954.0 SO:0001624 3_prime_UTR_variant AB051522 CCDS60957.1, CCDS73381.1, CCDS73382.1 11q23.1 2014-03-20 ENSG00000150764 ENSG00000150764 85458.0 85458.0 23695.0 protein-coding gene gene with protein product 610493 12792787 Standard NM_001037954 NM_001037954 Approved KIAA1735, Dixin uc001pmm.3 Q155Q3 OTTHUMG00000166912 ENST00000389821.4:c.*1098G>A 11.__UNKNOWN__:g.111853098G>A 1438.0 A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8 __UNKNOWN__ DIXDC1-001 KNOWN basic processed_transcript protein_coding OTTHUMT00000391833.1 + ENST00000389821.4 3'UTR SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX ANKS1A 23294 broad.mit.edu 37 6 34935028 34935028 + Silent SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr6:34935028G>A ENST00000360359.3 + 2.0 348 c.210G>A c.(208-210)ggG>ggA p.G70G ANKS1A_ENST00000535627.1_Silent_p.G70G NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 70.0 ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929) cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634) cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31.0 TGTGGAGAGGGCCAAATGTGA 0.423 0 212.0 186.0 195.0 6 34935028.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D86982 CCDS4798.1 6p21.31 2013-01-10 2006-02-17 2006-02-17 ENSG00000064999 ENSG00000064999 23294.0 23294.0 """Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing""" 20961.0 protein-coding gene gene with protein product 608994 """ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1""" ANKS1 9039502 Standard XM_166478 NM_015245 Approved KIAA0229 uc003ojx.4 Q92625 OTTHUMG00000014559 ENST00000360359.3:c.210G>A 6.__UNKNOWN__:g.34935028G>A A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7 __UNKNOWN__ CCDS4798.1 ANKS1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040262.1 + ENST00000360359.3 Silent SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX CNTNAP5 129684 broad.mit.edu 37 2 125555706 125555706 + Missense_Mutation SNP T T C TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr2:125555706T>C ENST00000431078.1 + 19.0 3387 c.3023T>C c.(3022-3024)gTt>gCt p.V1008A NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 1008.0 cell adhesion (GO:0007155) integral component of membrane (GO:0016021) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176.0 BRCA - Breast invasive adenocarcinoma(221;0.248) GGCACGTCGGTTACTTACATG 0.423 0 96.0 90.0 92.0 2 125555706.0 1919.0 4120.0 6039.0 SO:0001583 missense AB077881 CCDS46401.1 2q14.1 2008-02-05 ENSG00000155052 ENSG00000155052 129684.0 129684.0 18748.0 protein-coding gene gene with protein product 610519 Standard NM_130773 Approved caspr5, FLJ31966 uc002tno.3 Q8WYK1 OTTHUMG00000153356 ENST00000431078.1:c.3023T>C 2.__UNKNOWN__:g.125555706T>C ENSP00000399013:p.Val1008Ala Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7 __UNKNOWN__ CCDS46401.1 . . . . . . . . . . T 18.39 3.612491 0.66672 . . ENSG00000155052 ENST00000431078 T 0.50813 0.73 5.93 5.93 0.95920 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1); 0.478367 0.17255 N 0.181010 T 0.48447 0.1500 M 0.71581 2.175 0.43942 D 0.996603 P 0.35959 0.53 B 0.29716 0.106 T 0.53201 -0.8472 10 0.59425 D 0.04 . 15.5609 0.76244 0.0:0.0:0.0:1.0 . 1008 Q8WYK1 CNTP5_HUMAN A 1008 ENSP00000399013:V1008A ENSP00000399013:V1008A V + 2 0 CNTNAP5 125272176 1.000000 0.71417 0.971000 0.41717 0.840000 0.47671 7.947000 0.87758 2.271000 0.75665 0.533000 0.62120 GTT CNTNAP5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000330864.3 + ENST00000431078.1 Missense_Mutation SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX NFE2L3 9603 broad.mit.edu 37 7 26224911 26224914 + Frame_Shift_Del DEL AGAT AGAT - TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr7:26224911_26224914delAGAT ENST00000056233.3 + 4.0 1852_1855 c.1593_1596delAGAT c.(1591-1596)acagatfs p.TD531fs NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 531.0 transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713) breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29.0 TTGAAGACACAGATAGAAACTTGA 0.431 0 SO:0001589 frameshift_variant AB010812 CCDS5396.1 7p15.2 2013-08-23 2013-08-23 ENSG00000050344 ENSG00000050344 9603.0 9603.0 """basic leucine zipper proteins""" 7783.0 protein-coding gene gene with protein product 604135 """nuclear factor (erythroid-derived 2)-like 3""" 10037736 Standard NM_004289 Approved Nrf3 uc003sxq.3 Q9Y4A8 OTTHUMG00000023882 ENST00000056233.3:c.1593_1596delAGAT 7.__UNKNOWN__:g.26224911_26224914delAGAT ENSP00000056233:p.Thr531fs Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4 __UNKNOWN__ CCDS5396.1 NFE2L3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214088.1 + ENST00000056233.3 Frame_Shift_Del DEL PCPG-TCGA-WB-A81H-Normal-SM-5EMNX RTN4 57142 broad.mit.edu 37 2 55252907 55252910 + Frame_Shift_Del DEL AAAT AAAT - TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr2:55252907_55252910delAAAT ENST00000337526.6 - 3.0 2568_2571 c.2325_2328delATTT c.(2323-2328)tcatttfs p.SF775fs RTN4_ENST00000405240.1_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000404909.1_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000354474.6_Frame_Shift_Del_p.SF543fs|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000394611.2_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000357732.4_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 775.0 angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334) cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886) poly(A) RNA binding (GO:0044822) NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36.0 TCATTGACTCAAATGAAGTCTCAG 0.363 0 SO:0001589 frameshift_variant AF087901 CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1 2p14-p13 2008-05-23 ENSG00000115310 ENSG00000115310 57142.0 57142.0 14085.0 protein-coding gene gene with protein product 604475 10667797, 10773680 Standard NM_020532 Approved NSP-CL, KIAA0886, NOGO, ASY uc002rye.3 Q9NQC3 OTTHUMG00000129337 ENST00000337526.6:c.2325_2328delATTT 2.__UNKNOWN__:g.55252907_55252910delAAAT ENSP00000337838:p.Ser775fs O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6 __UNKNOWN__ CCDS42684.1 RTN4-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000251484.1 - ENST00000337526.6 Frame_Shift_Del DEL PCPG-TCGA-WB-A81H-Normal-SM-5EMNX CTNND1 1500 ucsc.edu 37 11 57572221 57572221 + Missense_Mutation SNP C C G TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr11:57572221C>G ENST00000524630.1 + 9.0 2204 c.1691C>G c.(1690-1692)gCt>gGt p.A564G CTNND1_ENST00000531014.1_Missense_Mutation_p.A241G|CTNND1_ENST00000526938.1_Missense_Mutation_p.A564G|CTNND1_ENST00000399039.4_Missense_Mutation_p.A564G|CTNND1_ENST00000529919.1_Missense_Mutation_p.A564G|CTNND1_ENST00000530094.1_Missense_Mutation_p.A463G|CTNND1_ENST00000534579.1_Missense_Mutation_p.A510G|CTNND1_ENST00000525902.1_Missense_Mutation_p.A241G|CTNND1_ENST00000532245.1_Missense_Mutation_p.A463G|CTNND1_ENST00000529986.1_Missense_Mutation_p.A463G|CTNND1_ENST00000530748.1_Missense_Mutation_p.A510G|CTNND1_ENST00000532463.1_Missense_Mutation_p.A463G|CTNND1_ENST00000428599.2_Missense_Mutation_p.A564G|CTNND1_ENST00000361796.4_Missense_Mutation_p.A564G|CTNND1_ENST00000528621.1_Missense_Mutation_p.A510G|CTNND1_ENST00000532787.1_Missense_Mutation_p.A463G|CTNND1_ENST00000533667.1_Missense_Mutation_p.A241G|CTNND1_ENST00000529526.1_Missense_Mutation_p.A510G|CTNND1_ENST00000361391.6_Missense_Mutation_p.A564G|CTNND1_ENST00000526772.1_Missense_Mutation_p.A241G|CTNND1_ENST00000360682.6_Missense_Mutation_p.A564G|CTNND1_ENST00000526357.1_Missense_Mutation_p.A510G|CTNND1_ENST00000358694.6_Missense_Mutation_p.A564G|CTNND1_ENST00000415361.2_Missense_Mutation_p.A463G|CTNND1_ENST00000426142.2_Missense_Mutation_p.A463G|CTNND1_ENST00000528232.1_Missense_Mutation_p.A463G|CTNND1_ENST00000399050.4_Missense_Mutation_p.A564G|CTNND1_ENST00000361332.4_Missense_Mutation_p.A564G|CTNND1_ENST00000532649.1_Missense_Mutation_p.A510G|CTNND1_ENST00000532844.1_Missense_Mutation_p.A510G|CTNND1_ENST00000529873.1_Missense_Mutation_p.A510G|CTNND1_ENST00000527467.1_Missense_Mutation_p.A241G O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 564.0 adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915) cadherin binding (GO:0045296)|receptor binding (GO:0005102) breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45.0 all_epithelial(135;0.155) ATTGTTCAGGCTGAGATTGGG 0.453 0 135.0 133.0 133.0 11 57572221.0 1925.0 4129.0 6054.0 SO:0001583 missense AB002382 CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1 11q12.1 2013-02-14 ENSG00000198561 1500.0 1500.0 """Armadillo repeat containing""" 2515.0 protein-coding gene gene with protein product 601045 CTNND 8808291 Standard NM_001331 NM_001085460 Approved KIAA0384, p120, p120cas, p120ctn uc001nmc.4 O60716 ENST00000524630.1:c.1691C>G 11.__UNKNOWN__:g.57572221C>G ENSP00000436543:p.Ala564Gly A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73 __UNKNOWN__ CCDS44606.1 . . . . . . . . . . C 21.7 4.181212 0.78677 . . ENSG00000198561 ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938 T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.75589 -0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95 5.38 5.38 0.77491 Armadillo-like helical (1);Armadillo-type fold (1); 0.052508 0.85682 D 0.000000 T 0.61400 0.2344 N 0.05441 -0.05 0.50039 D 0.999843 B;B;B;B;B;B;B;B;B 0.29378 0.081;0.081;0.048;0.081;0.081;0.081;0.243;0.081;0.048 B;B;B;B;B;B;B;B;B 0.31946 0.033;0.054;0.024;0.054;0.054;0.054;0.138;0.054;0.015 T 0.64837 -0.6313 10 0.87932 D 0 -16.6979 18.7997 0.92011 0.0:1.0:0.0:0.0 . 564;564;564;463;510;510;564;564;564 O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2 .;.;CTND1_HUMAN;.;.;.;.;.;. G 564;564;564;564;564;510;463;564;564;564;463;463;564;463;241;510;510;510;564;241;463;241;241;510;241;510;510;463;463;463;510;564 ENSP00000436543:A564G;ENSP00000434808:A564G;ENSP00000381996:A564G;ENSP00000353902:A564G;ENSP00000354907:A564G;ENSP00000436323:A510G;ENSP00000409930:A463G;ENSP00000382004:A564G;ENSP00000354785:A564G;ENSP00000354823:A564G;ENSP00000432075:A463G;ENSP00000437156:A463G;ENSP00000351527:A564G;ENSP00000434949:A463G;ENSP00000437051:A241G;ENSP00000435379:A510G;ENSP00000432243:A510G;ENSP00000436744:A510G;ENSP00000413586:A564G;ENSP00000434900:A241G;ENSP00000435266:A463G;ENSP00000432623:A241G;ENSP00000433158:A241G;ENSP00000435494:A510G;ENSP00000434672:A241G;ENSP00000433276:A510G;ENSP00000433334:A510G;ENSP00000437327:A463G;ENSP00000403518:A463G;ENSP00000434017:A463G;ENSP00000435789:A510G;ENSP00000432041:A564G ENSP00000351527:A564G A + 2 0 CTNND1 57328797 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.484000 0.81180 2.518000 0.84900 0.552000 0.68991 GCT CTNND1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393939.2 + ENST00000524630.1 Missense_Mutation SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX SCUBE1 80274 ucsc.edu 37 22 43634860 43634860 + Silent SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr22:43634860G>A ENST00000360835.4 - 7.0 954 c.828C>T c.(826-828)gaC>gaT p.D276D Z82214.2_ENST00000419643.1_RNA|SCUBE1_ENST00000290460.7_Silent_p.D306D NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 276.0 EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.|EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}. adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260) cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897) calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31.0 all_neural(38;0.0414)|Ovarian(80;0.07) ATGTCTTCCCGTCCGGCTGCA 0.632 0 72.0 60.0 64.0 22 43634860.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS14048.1 22q13 2008-07-01 ENSG00000159307 ENSG00000159307 80274.0 80274.0 13441.0 protein-coding gene gene with protein product 611746 11087664 Standard NM_173050 NM_173050 Approved uc003bdt.2 Q8IWY4 OTTHUMG00000150679 ENST00000360835.4:c.828C>T 22.__UNKNOWN__:g.43634860G>A Q5R336 __UNKNOWN__ CCDS14048.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. g|g 1.419|1.419 -0.573373|-0.573373 0.03882|0.03882 .|. .|. ENSG00000159307|ENSG00000159307 ENST00000449304|ENST00000381243 .|. .|. .|. 5.57|5.57 -10.2|-10.2 0.00374|0.00374 .|. .|. .|. .|. .|. T|T 0.74711|0.74711 0.3752|0.3752 .|. .|. .|. 0.80722|0.80722 D|D 1|1 .|. .|. .|. .|. .|. .|. D|D 0.85187|0.85187 0.1007|0.1007 4|5 .|0.59425 .|D .|0.04 .|. 19.5536|19.5536 0.95331|0.95331 0.9157:0.0:0.0843:0.0|0.9157:0.0:0.0843:0.0 .|. .|. .|. .|. W|M 130|69 .|. .|ENSP00000370642:T69M R|T -|- 1|2 2|0 SCUBE1|SCUBE1 41964804|41964804 0.003000|0.003000 0.15002|0.15002 0.088000|0.088000 0.20740|0.20740 0.126000|0.126000 0.20510|0.20510 -0.704000|-0.704000 0.05058|0.05058 -2.631000|-2.631000 0.00434|0.00434 -1.552000|-1.552000 0.00895|0.00895 CGG|ACG SCUBE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000319582.3 - ENST00000360835.4 Silent SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX CEACAM18 729767 hgsc.bcm.edu 37 19 51981792 51981792 + Nonsense_Mutation SNP C C T rs140323408 by1000genomes TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 C C . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr19:51981792C>T ENST00000451626.1 + 2.0 79 c.79C>T c.(79-81)Cga>Tga p.R27* A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 0.0 p.R27*(1) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17.0 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GGCTGGGAGACGAGACCGGCA 0.647 15.0 0.01 0.03 2184.0 0.9992 , , 0.0004 0.0068 0.9551 LOWCOV,EXOME 0.0013 SNP 1 Substitution - Nonsense(1) ovary(1) C stop/ARG 6,3882 0,6,1938 13.0 16.0 15.0 79 -5.0 0.0 19 dbSNP_134 15.0 0,8278 0,0,4139 yes stop-gained CEACAM18 NM_001080405.1 0,6,6077 TT,TC,CC 0.0,0.1543,0.0493 27/399 51981792.0 6,12160 1944.0 4139.0 6083.0 SO:0001587 stop_gained 19q13.41 2013-01-29 ENSG00000213822 729767.0 729767.0 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 31949.0 protein-coding gene gene with protein product Standard NM_001278392 Approved uc002pwv.1 A8MTB9 ENST00000451626.1:c.79C>T 19.__UNKNOWN__:g.51981792C>T ENSP00000402203:p.Arg27* C9JN24 __UNKNOWN__ 15 0.006868131868131868 15 0.03048780487804878 0 0.0 0 0.0 0 0.0 . 13.75 2.330880 0.41297 0.001543 0.0 ENSG00000213822 ENST00000451626 . . . 2.51 -5.01 0.02991 . . . . . . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 1.3422 0.02156 0.2541:0.3772:0.2242:0.1444 . . . . X 27 . ENSP00000402203:R27X R + 1 2 CEACAM18 56673604 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.690000 0.05138 -0.948000 0.03668 -2.366000 0.00237 CGA CEACAM18-201 KNOWN basic|appris_candidate_longest protein_coding protein_coding + ENST00000451626.1 Nonsense_Mutation SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX HYDIN 54768 hgsc.bcm.edu 37 16 70852284 70852284 + Silent SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr16:70852284G>A ENST00000393567.2 - 84.0 14769 c.14619C>T c.(14617-14619)atC>atT p.I4873I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4873.0 cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591) cell projection (GO:0042995) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43.0 Ovarian(137;0.0654) AGGGCAGGGCGATGTCGGGCA 0.632 0 G 1,4005 0,1,2002 48.0 45.0 46.0 14616 3.8 1.0 16 46.0 10,8344 0,10,4167 no coding-synonymous HYDIN NM_032821.2 0,11,6169 AA,AG,GG 0.1197,0.025,0.089 4872/5121 70852284.0 11,12349 2003.0 4177.0 6180.0 SO:0001819 synonymous_variant AK074472 CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1 16q22.2 2014-02-05 2012-01-06 ENSG00000157423 ENSG00000157423 54768.0 54768.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 19368.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 31""" 610812 """hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)""" 12719380, 23022101 Standard NM_001198542 Approved DKFZp434D0513, KIAA1864, PPP1R31, CILD5 uc031qwy.1 Q4G0P3 OTTHUMG00000137584 ENST00000393567.2:c.14619C>T 16.__UNKNOWN__:g.70852284G>A A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5 __UNKNOWN__ CCDS59269.1 HYDIN-001 PUTATIVE not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000398624.3 - ENST00000393567.2 Silent SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX TTN 7273 unc.edu 37 2 179478953 179478953 + Nonsense_Mutation SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS;RNA-Seq none Illumina HiSeq 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr2:179478953G>A ENST00000589042.1 - 262.0 49395 c.49171C>T c.(49171-49173)Cga>Tga p.R16391* TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R13823*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R7451*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R7518*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R7326*|TTN_ENST00000591111.1_Nonsense_Mutation_p.R14750*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14750.0 Ig-like 100. adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) 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) 1448.0 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAGTTGCTCGTCTCTCCACA 0.438 0 133.0 122.0 126.0 2 179478953.0 2012.0 4188.0 6200.0 SO:0001587 stop_gained X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273.0 7273.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403.0 protein-coding gene gene with protein product 188840 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_133378 NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.49171C>T 2.__UNKNOWN__:g.179478953G>A ENSP00000467141:p.Arg16391* A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 __UNKNOWN__ CCDS59435.1 . . . . . . . . . . G 59 36.613105 0.99983 . . ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 . . . 5.77 3.38 0.38709 . . . . . . . . . . . 0.80722 A 1 . . . . . . . . . . 0.87932 D 0 . 12.9813 0.58567 0.0:0.0:0.2665:0.7335 . . . . X 13823;7326;7518;7451;7326 . ENSP00000340554:R7518X R - 1 2 TTN 179187198 1.000000 0.71417 0.974000 0.42286 0.994000 0.84299 2.378000 0.44309 0.523000 0.28482 -0.262000 0.10625 CGA TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 - ENST00000589042.1 Nonsense_Mutation SNP PCPG-TCGA-WB-A81H-Normal-SM-5EMNX KIF13B 23303 broad.mit.edu 37 8 28928038 28928038 + Missense_Mutation SNP T T G TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr8:28928038T>G ENST00000524189.1 - 40.0 5502 c.5464A>C c.(5464-5466)Aaa>Caa p.K1822Q KIF13B_ENST00000404075.3_Missense_Mutation_p.K341Q NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1822.0 metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110) axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874) 14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901) endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28.0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) GCCCAGGATTTCCGGTTCTCA 0.682 0 16.0 20.0 19.0 8 28928038.0 1972.0 4145.0 6117.0 SO:0001583 missense AB014539 CCDS55217.1 8p21 2008-07-30 ENSG00000197892 23303.0 23303.0 """Kinesins""" 14405.0 protein-coding gene gene with protein product 607350 9734811, 10859302, 16864656 Standard NM_015254 Approved GAKIN, KIAA0639 uc003xhh.4 Q9NQT8 ENST00000524189.1:c.5464A>C 8.__UNKNOWN__:g.28928038T>G ENSP00000427900:p.Lys1822Gln B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6 __UNKNOWN__ CCDS55217.1 . . . . . . . . . . T 27.1 4.805009 0.90623 . . ENSG00000197892 ENST00000524189;ENST00000523130;ENST00000404075 D;D;D 0.87029 -1.56;-2.2;-2.12 4.63 4.63 0.57726 . 0.000000 0.85682 D 0.000000 D 0.89199 0.6647 L 0.29908 0.895 0.58432 D 0.999997 D;D 0.89917 1.0;1.0 D;D 0.85130 0.997;0.997 D 0.90449 0.4437 10 0.66056 D 0.02 . 14.2199 0.65820 0.0:0.0:0.0:1.0 . 341;1822 B4DGY5;F8VPJ2 .;. Q 1822;414;341 ENSP00000427900:K1822Q;ENSP00000429106:K414Q;ENSP00000384054:K341Q ENSP00000384054:K341Q K - 1 0 KIF13B 28983957 1.000000 0.71417 0.998000 0.56505 0.977000 0.68977 7.205000 0.77881 1.960000 0.56953 0.459000 0.35465 AAA KIF13B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000376878.1 - ENST00000524189.1 Missense_Mutation SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND SREBF2 6721 broad.mit.edu 37 22 42273265 42273265 + Silent SNP G G A rs143287516 TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr22:42273265G>A ENST00000361204.4 + 8.0 1585 c.1419G>A c.(1417-1419)gcG>gcA p.A473A NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 473.0 Interaction with LMNA. {ECO:0000250}. cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937) E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38.0 CTCCTGTGGCGCTGGGCATGG 0.512 0 G 1,4405 2.1+/-5.4 0,1,2202 121.0 117.0 118.0 1419 -12.1 0.3 22 dbSNP_134 118.0 0,8600 0,0,4300 no coding-synonymous SREBF2 NM_004599.2 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 473/1142 42273265.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U02031 CCDS14023.1 22q13.2 2013-05-21 ENSG00000198911 ENSG00000198911 6721.0 6721.0 """Basic helix-loop-helix proteins""" 11290.0 protein-coding gene gene with protein product 600481 7903453 Standard NM_004599 NM_004599 Approved SREBP2, bHLHd2 uc003bbi.3 Q12772 OTTHUMG00000151261 ENST00000361204.4:c.1419G>A 22.__UNKNOWN__:g.42273265G>A Q05BD5|Q6GTH7|Q86V36|Q9UH04 __UNKNOWN__ CCDS14023.1 SREBF2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000321956.1 + ENST00000361204.4 Silent SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND MSTN 2660 broad.mit.edu 37 2 190922072 190922072 + Missense_Mutation SNP G G A TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr2:190922072G>A ENST00000260950.4 - 3.0 1172 c.1040C>T c.(1039-1041)cCa>cTa p.P347L C2orf88_ENST00000478197.1_Intron NM_005259.2 NP_005250.1 O14793 GDF8_HUMAN myostatin 347.0 cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179) cytoplasm (GO:0005737)|extracellular space (GO:0005615) growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1) 12.0 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) CATATTAATTGGAGACATCTT 0.378 0 65.0 67.0 66.0 2 190922072.0 2203.0 4298.0 6501.0 SO:0001583 missense AF019627 CCDS2303.1 2q32.1 2014-09-17 2007-06-21 2007-06-21 ENSG00000138379 ENSG00000138379 2660.0 2660.0 4223.0 protein-coding gene gene with protein product 601788 """growth differentiation factor 8""" GDF8 9288100, 10610713, 17003236 Standard NM_005259 NM_005259 Approved uc002urp.3 O14793 OTTHUMG00000132663 ENST00000260950.4:c.1040C>T 2.__UNKNOWN__:g.190922072G>A ENSP00000260950:p.Pro347Leu A1C2J7|A1C2K0|Q6B0H2 __UNKNOWN__ CCDS2303.1 . . . . . . . . . . G 21.8 4.203479 0.79127 . . ENSG00000138379 ENST00000260950 T 0.72051 -0.62 5.79 5.79 0.91817 Transforming growth factor-beta, C-terminal (3); 0.000000 0.85682 D 0.000000 D 0.87752 0.6256 M 0.90705 3.14 0.80722 D 1 D 0.76494 0.999 D 0.74348 0.983 D 0.89376 0.3678 10 0.87932 D 0 -9.4717 20.0308 0.97536 0.0:0.0:1.0:0.0 . 347 O14793 GDF8_HUMAN L 347 ENSP00000260950:P347L ENSP00000260950:P347L P - 2 0 MSTN 190630317 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.869000 0.99810 2.732000 0.93576 0.585000 0.79938 CCA MSTN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255917.2 - ENST00000260950.4 Missense_Mutation SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND DYNC2H1 79659 broad.mit.edu 37 11 103027115 103027115 + Splice_Site SNP A A G TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr11:103027115A>G ENST00000375735.2 + 26.0 3888 c.e26-1 DYNC2H1_ENST00000398093.3_Splice_Site|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 antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522) apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774) NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33.0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TGTGTTAAATAGGATTTAAAT 0.279 0 28.0 28.0 28.0 11 103027115.0 1812.0 4062.0 5874.0 SO:0001630 splice_region_variant AB082528 CCDS44717.1, CCDS53701.1 11q21-q22.1 2011-06-02 2005-11-24 2005-11-24 ENSG00000187240 ENSG00000187240 79659.0 79659.0 """Cytoplasmic dyneins""" 2962.0 protein-coding gene gene with protein product 603297 """dynein, cytoplasmic, heavy polypeptide 2""" DNCH2 9763680, 9373155 Standard XM_370652 NM_001080463 Approved hdhc11, DHC2, DHC1b, DYH1B uc001phn.1 Q8NCM8 OTTHUMG00000165941 ENST00000375735.2:c.3745-1A>G 11.__UNKNOWN__:g.103027115A>G O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4 __UNKNOWN__ CCDS53701.1 . . . . . . . . . . A 21.1 4.093054 0.76756 . . ENSG00000187240 ENST00000375735;ENST00000398093 . . . 5.27 5.27 0.74061 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 15.1907 0.73041 1.0:0.0:0.0:0.0 . . . . . -1 . . . + . . DYNC2H1 102532325 1.000000 0.71417 1.000000 0.80357 0.976000 0.68499 8.690000 0.91272 2.001000 0.58596 0.460000 0.39030 . DYNC2H1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387196.1 Intron + ENST00000375735.2 Splice_Site SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND AMER2 219287 broad.mit.edu 37 13 25744194 25744194 + Missense_Mutation SNP C C T TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr13:25744194C>T ENST00000357816.2 - 3.0 1682 c.1207G>A c.(1207-1209)Gag>Aag p.E403K AMER2_ENST00000381853.3_Missense_Mutation_p.E403K|AMER2_ENST00000515384.1_Missense_Mutation_p.E522K Q8N7J2 AMER2_HUMAN APC membrane recruitment protein 2 522.0 ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055) plasma membrane (GO:0005886) phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) p.E522*(1)|p.E403*(1) CAGTAGCCCTCGTCGCTGTTG 0.662 2 Substitution - Nonsense(2) lung(2) 68.0 64.0 65.0 13 25744194.0 2203.0 4300.0 6503.0 SO:0001583 missense AK055049 CCDS9312.1, CCDS53859.1 13q12.13 2013-10-11 2012-12-03 2012-12-03 ENSG00000165566 ENSG00000165566 219287.0 219287.0 """-""" 26360.0 protein-coding gene gene with protein product 614659 """family with sequence similarity 123A""" FAM123A 20843316 Standard NM_152704 XM_005266279 Approved FLJ25477 uc001uqb.3 Q8N7J2 OTTHUMG00000016602 ENST00000357816.2:c.1207G>A 13.__UNKNOWN__:g.25744194C>T ENSP00000350469:p.Glu403Lys Q5RL80|Q5VX56|Q8N593|Q96NN5 __UNKNOWN__ CCDS9312.1 . . . . . . . . . . C 21.2 4.107481 0.77096 . . ENSG00000165566 ENST00000357816;ENST00000381853;ENST00000515384 T;T;T 0.47528 0.84;0.84;0.84 4.98 1.14 0.20703 . 0.173505 0.49916 N 0.000131 T 0.38295 0.1035 L 0.55743 1.74 0.49582 D 0.999803 P;P 0.47841 0.901;0.719 B;B 0.38755 0.281;0.109 T 0.23119 -1.0197 10 0.59425 D 0.04 -6.7672 10.0393 0.42148 0.0:0.5344:0.3925:0.073 . 522;403 Q8N7J2;Q8N7J2-2 F123A_HUMAN;. K 403;403;522 ENSP00000350469:E403K;ENSP00000371277:E403K;ENSP00000426528:E522K ENSP00000350469:E403K E - 1 0 FAM123A 24642194 0.980000 0.34600 0.938000 0.37757 0.991000 0.79684 2.482000 0.45224 -0.001000 0.14495 0.561000 0.74099 GAG AMER2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044221.2 - ENST00000357816.2 Missense_Mutation SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND CRIPAK 285464 broad.mit.edu 37 4 1389240 1389240 + Missense_Mutation SNP G G A rs71299249 TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr4:1389240G>A ENST00000324803.4 + 1.0 3901 c.941G>A c.(940-942)cGt>cAt p.R314H NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 314.0 negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886) NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35.0 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GCCTGCTCACGTGCCCATATG 0.662 0 169.0 171.0 170.0 4 1389240.0 2202.0 4299.0 6501.0 SO:0001583 missense AK096209 CCDS3349.1 4p16.3 2011-02-10 2006-09-04 ENSG00000179979 ENSG00000179979 285464.0 285464.0 26619.0 protein-coding gene gene with protein product 610203 """cysteine-rich PAK1inhibitor""" 16278681 Standard NM_175918 NM_175918 Approved FLJ34443 uc003gdf.2 Q8N1N5 OTTHUMG00000121131 ENST00000324803.4:c.941G>A 4.__UNKNOWN__:g.1389240G>A ENSP00000323978:p.Arg314His Q8NB03 __UNKNOWN__ CCDS3349.1 . . . . . . . . . . A 9.936 1.216238 0.22373 . . ENSG00000179979 ENST00000324803;ENST00000382944 T 0.20332 2.08 0.815 -1.63 0.08345 . . . . . T 0.09598 0.0236 N 0.08118 0 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.22382 -1.0218 9 0.49607 T 0.09 . 6.5735 0.22551 0.5269:0.0:0.4731:0.0 . 314 Q8N1N5 CRPAK_HUMAN H 314;256 ENSP00000323978:R314H ENSP00000323978:R314H R + 2 0 CRIPAK 1379240 0.086000 0.21541 0.000000 0.03702 0.002000 0.02628 0.025000 0.13577 -1.906000 0.01089 -2.143000 0.00337 CGT CRIPAK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000241607.2 + ENST00000324803.4 Missense_Mutation SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND FAM111B 374393 broad.mit.edu 37 11 58877137 58877137 + Silent SNP C C T rs138558402 TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr11:58877137C>T ENST00000343597.3 + 3.0 230 c.39C>T c.(37-39)agC>agT p.S13S FAM111B_ENST00000411426.1_Intron|FAM111B_ENST00000529618.1_Intron NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 13.0 catalytic activity (GO:0003824) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40.0 AGTCATTTAGCGCTATGGAAG 0.368 0 C ,, 0,4402 0,0,2201 110.0 98.0 102.0 ,,39 -1.1 0.0 11 dbSNP_134 102.0 1,8589 1.2+/-3.3 0,1,4294 no intron,intron,coding-synonymous FAM111B NM_001142703.1,NM_001142704.1,NM_198947.3 ,, 0,1,6495 TT,TC,CC 0.0116,0.0,0.0077 ,, ,,13/735 58877137.0 1,12991 2201.0 4295.0 6496.0 SO:0001819 synonymous_variant BC062456 CCDS7972.1, CCDS44611.1 11q12.1 2014-03-13 ENSG00000189057 ENSG00000189057 374393.0 374393.0 24200.0 protein-coding gene gene with protein product 615584 24268661 Standard NM_198947 NM_198947 Approved CANP uc001nnl.3 Q6SJ93 OTTHUMG00000167279 ENST00000343597.3:c.39C>T 11.__UNKNOWN__:g.58877137C>T B4E2G2|Q6P661 __UNKNOWN__ CCDS7972.1 FAM111B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393974.1 + ENST00000343597.3 Silent SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND ZNF608 57507 broad.mit.edu 37 5 123982608 123982608 + Missense_Mutation SNP G G A TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr5:123982608G>A ENST00000306315.5 - 4.0 3904 c.3469C>T c.(3469-3471)Ccc>Tcc p.P1157S ZNF608_ENST00000504926.1_Missense_Mutation_p.P730S NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1157.0 metal ion binding (GO:0046872) breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46.0 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) GGAGTAGAGGGAGCTTTTGAG 0.463 0 122.0 119.0 120.0 5 123982608.0 2203.0 4300.0 6503.0 SO:0001583 missense AB033107 CCDS34219.1 5q23.2 2008-05-02 ENSG00000168916 ENSG00000168916 57507.0 57507.0 """Zinc fingers, C2H2-type""" 29238.0 protein-coding gene gene with protein product 10574462, 10508479 Standard XM_114432 NM_020747 Approved KIAA1281, DKFZp434M098, NY-REN-36 uc003ktq.1 Q9ULD9 OTTHUMG00000162999 ENST00000306315.5:c.3469C>T 5.__UNKNOWN__:g.123982608G>A ENSP00000307746:p.Pro1157Ser A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1 __UNKNOWN__ CCDS34219.1 . . . . . . . . . . G 17.16 3.318628 0.60524 . . ENSG00000168916 ENST00000504926;ENST00000306315 T;T 0.60299 0.2;0.37 5.87 5.87 0.94306 . 0.000000 0.85682 D 0.000000 T 0.61540 0.2355 M 0.73217 2.22 0.47584 D 0.999469 P 0.42518 0.782 B 0.38712 0.28 T 0.66716 -0.5853 10 0.62326 D 0.03 -19.0094 20.2015 0.98260 0.0:0.0:1.0:0.0 . 1157 Q9ULD9 ZN608_HUMAN S 730;1157 ENSP00000427657:P730S;ENSP00000307746:P1157S ENSP00000307746:P1157S P - 1 0 ZNF608 124010507 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.345000 0.79337 2.773000 0.95371 0.643000 0.83706 CCC ZNF608-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000371300.1 - ENST00000306315.5 Missense_Mutation SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND TRBV7-1 0 broad.mit.edu 37 7 142032456 142032456 + RNA SNP C C T TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr7:142032456C>T ENST00000547918.2 + 0.0 309 T cell receptor beta variable 7-1 (non-functional) CTGAGGGATCCATCTCCACTC 0.567 0 X61444 7q34 2012-02-07 2008-09-12 ENSG00000211707 ENSG00000211707 28597.0 28597.0 """T cell receptors / TRB locus""" 12235.0 other T cell receptor gene """T cell receptor beta variable 7-1""" 8650574 Standard NG_001333 NG_001333 Approved TRBV71, TCRBV6S7P, TCRBV7S1 OTTHUMG00000158529 ENST00000547918.2: 7.__UNKNOWN__:g.142032456C>T __UNKNOWN__ TRBV7-1-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene TR_V_gene OTTHUMT00000351235.1 + ENST00000547918.2 RNA SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND PKHD1L1 93035 broad.mit.edu 37 8 110457177 110457177 + Silent SNP C C T TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr8:110457177C>T ENST00000378402.5 + 38.0 5183 c.5079C>T c.(5077-5079)gtC>gtT p.V1693V NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1693.0 IPT/TIG 9. immune response (GO:0006955) cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021) receptor activity (GO:0004872) 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) 263.0 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTGTAAAAGTCCTTATGGGTC 0.443 HNSCC(38;0.096) 0 149.0 144.0 145.0 8 110457177.0 1873.0 4109.0 5982.0 SO:0001819 synonymous_variant AY219181 CCDS47911.1 8q23 2003-03-28 ENSG00000205038 ENSG00000205038 93035.0 93035.0 20313.0 protein-coding gene gene with protein product 607843 12620974 Standard NM_177531 NM_177531 Approved uc003yne.3 Q86WI1 OTTHUMG00000164934 ENST00000378402.5:c.5079C>T 8.__UNKNOWN__:g.110457177C>T Q567P2|Q9UF27 __UNKNOWN__ CCDS47911.1 PKHD1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381017.1 + ENST00000378402.5 Silent SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND FAM76A 199870 broad.mit.edu 37 1 28053989 28053989 + Missense_Mutation SNP C C T TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr1:28053989C>T ENST00000373954.6 + 2.0 190 c.88C>T c.(88-90)Cgg>Tgg p.R30W FAM76A_ENST00000530324.1_Missense_Mutation_p.R30W|FAM76A_ENST00000419687.2_Missense_Mutation_p.R30W|FAM76A_ENST00000234549.7_Missense_Mutation_p.R30W|FAM76A_ENST00000373949.1_Missense_Mutation_p.R30W|FAM76A_ENST00000010299.6_Missense_Mutation_p.R30W NM_001143912.1|NM_152660.2 NP_001137384.1|NP_689873.1 Q8TAV0 FA76A_HUMAN family with sequence similarity 76, member A 30.0 endometrium(4)|kidney(2)|large_intestine(1)|lung(2) 9.0 Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649) TCAGGAATGTCGGATTGCACA 0.418 0 107.0 102.0 104.0 1 28053989.0 2203.0 4300.0 6503.0 SO:0001583 missense AK098318 CCDS309.1, CCDS44092.1, CCDS44093.1, CCDS44094.1, CCDS44095.1 1p35.3 2008-02-05 ENSG00000009780 ENSG00000009780 199870.0 199870.0 28530.0 protein-coding gene gene with protein product Standard NM_152660 NM_001143912 Approved MGC34648 uc001bor.3 Q8TAV0 OTTHUMG00000003729 ENST00000373954.6:c.88C>T 1.__UNKNOWN__:g.28053989C>T ENSP00000363065:p.Arg30Trp B4DWT3|O95565|O95566|Q8N7J5 __UNKNOWN__ CCDS309.1 . . . . . . . . . . C 21.9 4.216028 0.79352 . . ENSG00000009780 ENST00000373954;ENST00000419687;ENST00000530324;ENST00000234549;ENST00000373949;ENST00000010299 T;T 0.36878 1.23;2.26 5.35 5.35 0.76521 . 0.000000 0.56097 D 0.000033 T 0.59662 0.2210 M 0.64404 1.975 0.80722 D 1 D;P;P;D;P;B 0.89917 1.0;0.839;0.495;1.0;0.695;0.444 D;B;B;D;B;B 0.85130 0.988;0.347;0.233;0.997;0.246;0.157 T 0.60541 -0.7243 10 0.66056 D 0.02 -3.0853 18.4721 0.90778 0.0:1.0:0.0:0.0 . 30;30;30;30;30;30 B4DWT3;E9PQL1;Q8TAV0-2;Q8TAV0-4;Q8TAV0-3;Q8TAV0 .;.;.;.;.;FA76A_HUMAN W 30 ENSP00000234549:R30W;ENSP00000010299:R30W ENSP00000010299:R30W R + 1 2 FAM76A 27926576 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.629000 0.83207 2.685000 0.91497 0.552000 0.68991 CGG FAM76A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000010514.3 + ENST00000373954.6 Missense_Mutation SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND METTL21C 196541 broad.mit.edu 37 13 103343216 103343216 + Missense_Mutation SNP C C T TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr13:103343216C>T ENST00000267273.6 - 2.0 234 c.229G>A c.(229-231)Gag>Aag p.E77K NM_001010977.1 NP_001010977.1 Q5VZV1 MT21C_HUMAN methyltransferase like 21C 77.0 peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479) nucleus (GO:0005634) protein-lysine N-methyltransferase activity (GO:0016279) breast(1)|large_intestine(3)|lung(2)|skin(1) 7.0 ATGACAATCTCCTTTCCTGCA 0.453 0 177.0 150.0 159.0 13 103343216.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS32003.1 13q33.1 2011-03-03 2011-03-03 2011-03-03 ENSG00000139780 ENSG00000139780 196541.0 196541.0 33717.0 protein-coding gene gene with protein product 615259 """chromosome 13 open reading frame 39""" C13orf39 Standard NM_001010977 NM_001010977 Approved LOC196541 uc001vpj.4 Q5VZV1 OTTHUMG00000017304 ENST00000267273.6:c.229G>A 13.__UNKNOWN__:g.103343216C>T ENSP00000267273:p.Glu77Lys __UNKNOWN__ CCDS32003.1 . . . . . . . . . . C 9.435 1.086576 0.20390 . . ENSG00000139780 ENST00000267273 T 0.14516 2.5 6.16 3.76 0.43208 . 0.629443 0.18377 N 0.143063 T 0.05502 0.0145 N 0.04805 -0.155 0.25965 N 0.982573 B 0.02656 0.0 B 0.04013 0.001 T 0.41052 -0.9530 10 0.17369 T 0.5 -0.0346 5.3709 0.16138 0.0:0.1693:0.2475:0.5831 . 77 Q5VZV1 MT21C_HUMAN K 77 ENSP00000267273:E77K ENSP00000267273:E77K E - 1 0 METTL21C 102141217 0.850000 0.29656 0.954000 0.39281 0.863000 0.49368 1.201000 0.32259 0.553000 0.29044 -0.312000 0.09012 GAG METTL21C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045682.2 - ENST00000267273.6 Missense_Mutation SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND ZNF471 57573 broad.mit.edu 37 19 57037154 57037154 + Missense_Mutation SNP G G A TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr19:57037154G>A ENST00000591537.1 + 0.0 1423 ZNF471_ENST00000308031.5_Missense_Mutation_p.C573Y|ZNF471_ENST00000593197.1_3'UTR Q9BX82 ZN471_HUMAN zinc finger protein 471 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) 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) 36.0 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) CCCTATAAATGTACTGAATGT 0.423 Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211) 0 72.0 71.0 71.0 19 57037154.0 2203.0 4300.0 6503.0 SO:0001624 3_prime_UTR_variant AB037817 CCDS12945.1 19q13.43 2013-01-08 ENSG00000196263 57573.0 57573.0 """Zinc fingers, C2H2-type"", ""-""" 23226.0 protein-coding gene gene with protein product 10718198 Standard NM_020813 NM_020813 Approved KIAA1396, Z1971 uc002qnh.3 Q9BX82 ENST00000591537.1:c.*553G>A 19.__UNKNOWN__:g.57037154G>A B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1 __UNKNOWN__ . . . . . . . . . . G 15.95 2.984739 0.53934 . . ENSG00000196263 ENST00000308031 D 0.85088 -1.94 3.9 2.87 0.33458 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . D 0.93635 0.7967 H 0.95437 3.67 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.93514 0.6855 9 0.72032 D 0.01 . 10.2035 0.43099 0.1013:0.0:0.8987:0.0 . 573 Q9BX82 ZN471_HUMAN Y 573 ENSP00000309161:C573Y ENSP00000309161:C573Y C + 2 0 ZNF471 61728966 1.000000 0.71417 0.493000 0.27502 0.927000 0.56198 3.665000 0.54532 0.846000 0.35142 0.462000 0.41574 TGT ZNF471-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000458406.1 + ENST00000591537.1 3'UTR SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND MYH3 4621 broad.mit.edu 37 17 10537355 10537355 + Missense_Mutation SNP G G C TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr17:10537355G>C ENST00000583535.1 - 32.0 4588 c.4501C>G c.(4501-4503)Cgg>Ggg p.R1501G MYH3_ENST00000226209.7_Missense_Mutation_p.R1501G NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1501.0 actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017) actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146) 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) 83.0 TTATTTTCCCGTTTCACAGTT 0.493 0 181.0 155.0 164.0 17 10537355.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS11157.1 17p13.1 2013-09-19 2006-09-29 ENSG00000109063 ENSG00000109063 4621.0 4621.0 """Myosins / Myosin superfamily : Class II""" 7573.0 protein-coding gene gene with protein product """myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3""" 160720 """myosin, heavy polypeptide 3, skeletal muscle, embryonic""" 2726495 Standard NM_002470 NM_002470 Approved MYHC-EMB, MYHSE1, HEMHC, SMHCE uc002gmq.2 P11055 OTTHUMG00000130367 ENST00000583535.1:c.4501C>G 17.__UNKNOWN__:g.10537355G>C ENSP00000464317:p.Arg1501Gly Q15492 __UNKNOWN__ CCDS11157.1 . . . . . . . . . . G 19.81 3.896772 0.72639 . . ENSG00000109063 ENST00000226209 D 0.83914 -1.78 5.31 5.31 0.75309 Myosin tail (1); . . . . D 0.94588 0.8256 H 0.96943 3.91 0.41066 D 0.985411 D 0.89917 1.0 D 0.97110 1.0 D 0.96268 0.9196 9 0.87932 D 0 . 19.3282 0.94273 0.0:0.0:1.0:0.0 . 1501 P11055 MYH3_HUMAN G 1501 ENSP00000226209:R1501G ENSP00000226209:R1501G R - 1 2 MYH3 10478080 0.925000 0.31364 1.000000 0.80357 0.998000 0.95712 1.395000 0.34520 2.623000 0.88846 0.655000 0.94253 CGG MYH3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252734.2 - ENST00000583535.1 Missense_Mutation SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND AAK1 22848 broad.mit.edu 37 2 69741805 69741807 + In_Frame_Del DEL TGT TGT - TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr2:69741805_69741807delTGT ENST00000409085.4 - 13.0 1948_1950 c.1572_1574delACA c.(1570-1575)caacag>cag p.524_525QQ>Q AAK1_ENST00000409068.1_In_Frame_Del_p.524_525QQ>Q|AAK1_ENST00000406297.3_In_Frame_Del_p.524_525QQ>Q NM_014911.3 NP_055726 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 524.0 Gln-rich. endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880) cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195) AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1) 17.0 CATTAGCTGCTGTTGAGAGCCTC 0.502 0 SO:0001651 inframe_deletion AB028971 CCDS1893.2 2p13.3 2012-07-10 ENSG00000115977 ENSG00000115977 22848.0 22848.0 19679.0 protein-coding gene gene with protein product 11877461, 12471243 Standard NM_014911 NM_014911 Approved KIAA1048, DKFZp686K16132 uc002sfp.2 Q2M2I8 OTTHUMG00000129648 ENST00000409085.4:c.1572_1574delACA 2.__UNKNOWN__:g.69741805_69741807delTGT ENSP00000386456:p.Gln526del Q4ZFZ3|Q53RX6|Q9UPV4 __UNKNOWN__ CCDS1893.2 AAK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251847.4 - ENST00000409085.4 In_Frame_Del DEL PCPG-TCGA-WB-A81I-Normal-SM-5EMND CNOT1 23019 broad.mit.edu 37 16 58589235 58589236 + Frame_Shift_Del DEL AT AT - rs145768046 TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr16:58589235_58589236delAT ENST00000317147.5 - 21.0 3142_3143 c.2810_2811delAT c.(2809-2811)tatfs p.Y937fs CNOT1_ENST00000569240.1_Frame_Shift_Del_p.Y932fs|CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Frame_Shift_Del_p.Y937fs NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 937.0 Interaction with ZFP36. gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829) CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778) estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974) 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) 87.0 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CTTCAAGAACATATCGTAGAGC 0.401 0 SO:0001589 frameshift_variant AL833549 CCDS10799.1, CCDS45501.1, CCDS58468.1 16q21 2008-02-05 ENSG00000125107 ENSG00000125107 23019.0 23019.0 7877.0 protein-coding gene gene with protein product 604917 NOT1 14702039 Standard NM_016284 NM_016284 Approved CDC39, NOT1H, KIAA1007, AD-005 uc002env.4 A5YKK6 OTTHUMG00000133487 ENST00000317147.5:c.2810_2811delAT 16.__UNKNOWN__:g.58589237_58589238delAT ENSP00000320949:p.Tyr937fs Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0 __UNKNOWN__ CCDS10799.1 CNOT1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000257385.3 - ENST00000317147.5 Frame_Shift_Del DEL PCPG-TCGA-WB-A81I-Normal-SM-5EMND Unknown 4871 bcgsc.ca 37 18 23785812 23785812 + RNA SNP C C A TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr18:23785812C>A PSMA8 (12493 upstream) : TAF4B (20087 downstream) TGAAGAATTGCTTCCGGAAGA 0.393 0 SO:0001628 intergenic_variant 18.__UNKNOWN__:g.23785812C>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND RSBN1 54665 bcgsc.ca 37 1 114308932 114308932 + Silent SNP G G A TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr1:114308932G>A ENST00000261441.5 - 7.0 2142 c.2079C>T c.(2077-2079)tgC>tgT p.C693C RSBN1_ENST00000369581.2_5'UTR NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 693.0 nucleus (GO:0005634) breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29.0 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGGCTAAGCTGCACACCGCCG 0.428 0 G 1,4405 2.1+/-5.4 0,1,2202 139.0 128.0 132.0 2079 3.6 1.0 1 132.0 0,8600 0,0,4300 no coding-synonymous RSBN1 NM_018364.3 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 693/803 114308932.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK002082 CCDS862.1 1p13.1 2008-02-05 ENSG00000081019 ENSG00000081019 54665.0 54665.0 25642.0 protein-coding gene gene with protein product 615858 12477932 Standard NM_018364 NM_018364 Approved FLJ11220, ROSBIN uc001edq.3 Q5VWQ0 OTTHUMG00000011938 ENST00000261441.5:c.2079C>T 1.__UNKNOWN__:g.114308932G>A A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6 __UNKNOWN__ CCDS862.1 RSBN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033022.2 - ENST00000261441.5 Silent SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND FIGF 2277 ucsc.edu 37 X 15371287 15371287 + Nonsense_Mutation SNP A A T TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chrX:15371287A>T ENST00000297904.3 - 5.0 1074 c.645T>A c.(643-645)tgT>tgA p.C215* NM_004469.4 NP_004460.1 O43915 VEGFD_HUMAN c-fos induced growth factor (vascular endothelial growth factor D) 215.0 angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010) extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093) chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 17.0 Hepatocellular(33;0.183) TGGAATGGGAACAGCTAGGAA 0.343 0 73.0 67.0 69.0 X 15371287.0 2203.0 4299.0 6502.0 SO:0001587 stop_gained AJ000185 CCDS14166.1 Xp22.31 2008-02-05 ENSG00000165197 ENSG00000165197 2277.0 2277.0 3708.0 protein-coding gene gene with protein product 300091 VEGFD 9479493 Standard NM_004469 NM_004469 Approved VEGF-D uc004cwt.2 O43915 OTTHUMG00000021175 ENST00000297904.3:c.645T>A X.__UNKNOWN__:g.15371287A>T ENSP00000297904:p.Cys215* B2R7Z3 __UNKNOWN__ CCDS14166.1 . . . . . . . . . . A 37 6.078125 0.97262 . . ENSG00000165197 ENST00000297904 . . . 5.57 -0.794 0.10918 . 0.176397 0.49305 D 0.000152 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -30.3352 11.7708 0.51958 0.4462:0.0:0.5538:0.0 . . . . X 215 . ENSP00000297904:C215X C - 3 2 FIGF 15281208 1.000000 0.71417 0.610000 0.28997 0.484000 0.33280 1.345000 0.33953 -0.266000 0.09339 0.486000 0.48141 TGT FIGF-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055859.1 - ENST00000297904.3 Nonsense_Mutation SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND GRM8 2918 ucsc.edu 37 7 126173143 126173143 + Missense_Mutation SNP C C T rs142276801 TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr7:126173143C>T ENST00000339582.2 - 9.0 3101 c.2293G>A c.(2293-2295)Gtt>Att p.V765I GRM8_ENST00000358373.3_Missense_Mutation_p.V765I|GRM8_ENST00000444921.2_Missense_Mutation_p.V765I|GRM8_ENST00000480995.1_5'UTR O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 765.0 adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734) G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642) 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) 125.0 Prostate(267;0.186) ATGGCATAAACAGTACAAGTG 0.423 HNSCC(24;0.065) 0 131.0 114.0 120.0 7 126173143.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS5794.1, CCDS47696.1 7q31.3-q32.1 2012-08-29 ENSG00000179603 ENSG00000179603 2918.0 """GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors""" 4600.0 protein-coding gene gene with protein product 601116 8824806 Standard NM_000845 Approved GLUR8, GPRC1H, mGlu8, MGLUR8 uc003vlr.2 O00222 OTTHUMG00000022888 ENST00000339582.2:c.2293G>A 7.__UNKNOWN__:g.126173143C>T ENSP00000344173:p.Val765Ile A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165 __UNKNOWN__ CCDS5794.1 . . . . . . . . . . C 14.76 2.632675 0.47049 . . ENSG00000179603 ENST00000339582;ENST00000444921;ENST00000358373 D;D;D 0.88586 -2.4;-2.4;-2.4 5.72 5.72 0.89469 GPCR, family 3, C-terminal (2); 0.000000 0.85682 D 0.000000 D 0.91888 0.7432 L 0.41824 1.3 0.80722 D 1 D;B 0.61697 0.99;0.02 D;B 0.65874 0.939;0.05 D 0.91834 0.5478 10 0.54805 T 0.06 . 18.8847 0.92372 0.0:1.0:0.0:0.0 . 765;765 O00222-2;O00222 .;GRM8_HUMAN I 765 ENSP00000344173:V765I;ENSP00000409790:V765I;ENSP00000351142:V765I ENSP00000344173:V765I V - 1 0 GRM8 125960379 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 4.053000 0.57427 2.717000 0.92951 0.655000 0.94253 GTT GRM8-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000059209.4 - ENST00000339582.2 Missense_Mutation SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND GTPBP10 85865 ucsc.edu 37 7 89982134 89982134 + Missense_Mutation SNP G G A TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr7:89982134G>A ENST00000222511.6 + 2.0 104 c.38G>A c.(37-39)gGa>gAa p.G13E GTPBP10_ENST00000257659.8_Missense_Mutation_p.G13E NM_033107.3 NP_149098.2 A4D1E9 GTPBA_HUMAN GTP-binding protein 10 (putative) 13.0 ribosome biogenesis (GO:0042254) chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822) endometrium(1)|kidney(2)|large_intestine(3)|lung(4) 10.0 TTTAAGTATGGAAATTTCATC 0.373 OREG0003797 type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 87.0 88.0 88.0 7 89982134.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS5617.1, CCDS43614.1 7q21.13 2006-08-15 ENSG00000105793 ENSG00000105793 85865.0 85865.0 25106.0 protein-coding gene gene with protein product 610920 12477932 Standard NM_033107 NM_001042717 Approved DKFZP686A10121, FLJ38242 uc003ukm.2 A4D1E9 OTTHUMG00000023655 ENST00000222511.6:c.38G>A 7.__UNKNOWN__:g.89982134G>A ENSP00000222511:p.Gly13Glu 1271.0 B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6 __UNKNOWN__ CCDS5617.1 . . . . . . . . . . G 27.6 4.844845 0.91197 . . ENSG00000105793 ENST00000426366;ENST00000450619;ENST00000257659;ENST00000222511;ENST00000417207 T;T;T;T;T 0.29655 2.36;2.31;2.01;2.82;1.56 6.07 6.07 0.98685 . 0.000000 0.85682 D 0.000000 T 0.59445 0.2194 M 0.73962 2.25 0.80722 D 1 D;D;D;D 0.89917 1.0;0.999;1.0;1.0 D;D;D;D 0.91635 0.999;0.974;0.999;0.985 T 0.53968 -0.8363 9 . . . -0.1826 20.6525 0.99598 0.0:0.0:1.0:0.0 . 13;13;4;30 A4D1E9-2;A4D1E9;C9J8R7;C9JNI1 .;GTPBA_HUMAN;.;. E 4;30;13;13;13 ENSP00000405697:G4E;ENSP00000389510:G30E;ENSP00000257659:G13E;ENSP00000222511:G13E;ENSP00000416596:G13E . G + 2 0 GTPBP10 89820070 1.000000 0.71417 1.000000 0.80357 0.791000 0.44710 9.123000 0.94387 2.890000 0.99128 0.585000 0.79938 GGA GTPBP10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000059976.3 + ENST00000222511.6 Missense_Mutation SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND WBP11 51729 ucsc.edu 37 12 14944111 14944111 + Missense_Mutation SNP C C T TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr12:14944111C>T ENST00000261167.2 - 9.0 1240 c.1007G>A c.(1006-1008)cGt>cAt p.R336H NM_016312.2 NP_057396.1 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 336.0 mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364) cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30.0 ACCTGCCATACGAAGCATCAT 0.418 0 107.0 97.0 100.0 12 14944111.0 2203.0 4300.0 6503.0 SO:0001583 missense AB029309 CCDS8666.1 12p12.3 2014-06-13 ENSG00000084463 ENSG00000084463 51729.0 51729.0 16461.0 protein-coding gene gene with protein product """splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165""" 10593949 Standard NM_016312 NM_016312 Approved NPWBP, SIPP1, PPP1R165 uc001rci.3 Q9Y2W2 OTTHUMG00000168737 ENST00000261167.2:c.1007G>A 12.__UNKNOWN__:g.14944111C>T ENSP00000261167:p.Arg336His Q96AY8 __UNKNOWN__ CCDS8666.1 . . . . . . . . . . C 20.5 3.995738 0.74703 . . ENSG00000084463 ENST00000261167;ENST00000537574 D 0.90620 -2.7 5.05 5.05 0.67936 . 0.000000 0.85682 D 0.000000 D 0.92293 0.7555 L 0.34521 1.04 0.54753 D 0.999987 D 0.76494 0.999 D 0.73380 0.98 D 0.93032 0.6449 10 0.72032 D 0.01 -7.3813 15.9359 0.79707 0.0:1.0:0.0:0.0 . 336 Q9Y2W2 WBP11_HUMAN H 336 ENSP00000442868:R336H ENSP00000261167:R336H R - 2 0 WBP11 14835378 1.000000 0.71417 1.000000 0.80357 0.981000 0.71138 7.332000 0.79203 2.630000 0.89119 0.655000 0.94253 CGT WBP11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000400850.1 - ENST00000261167.2 Missense_Mutation SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND MTNR1B 4544 hgsc.bcm.edu 37 11 92714758 92714758 + Silent SNP C C T TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 C C . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr11:92714758C>T ENST00000257068.2 + 2.0 375 c.369C>T c.(367-369)agC>agT p.S123S NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 123.0 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33.0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980) TGGGCCTGAGCGTCATCGGCT 0.592 0 144.0 129.0 134.0 11 92714758.0 2201.0 4298.0 6499.0 SO:0001819 synonymous_variant AB033598 CCDS8290.1 11q21-q22 2012-08-08 ENSG00000134640 ENSG00000134640 4544.0 4544.0 """GPCR / Class A : Melatonin receptors""" 7464.0 protein-coding gene gene with protein product 600804 Standard NM_005959 Approved uc001pdk.1 P49286 OTTHUMG00000167364 ENST00000257068.2:c.369C>T 11.__UNKNOWN__:g.92714758C>T __UNKNOWN__ CCDS8290.1 MTNR1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394323.1 + ENST00000257068.2 Silent SNP PCPG-TCGA-WB-A81I-Normal-SM-5EMND RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr2:107049681T>C ENST00000409886.3 - 16.0 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756.0 protein targeting to Golgi (GO:0000042) p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71.0 TCACTATAGTTTTCGAGTTCC 0.373 6 Substitution - Missense(6) endometrium(6) 164.0 133.0 142.0 2 107049681.0 692.0 1590.0 2282.0 SO:0001583 missense CCDS46379.1 2q12.2 2013-01-10 ENSG00000153165 ENSG00000153165 653489.0 653489.0 """Tetratricopeptide (TTC) repeat domain containing""" 32416.0 protein-coding gene gene with protein product 612706 15710750, 15815621 Standard XM_929931 NM_001144013 Approved RGP3 uc010ywi.1 A6NKT7 OTTHUMG00000153182 ENST00000409886.3:c.2266A>G 2.__UNKNOWN__:g.107049681T>C ENSP00000386588:p.Asn756Asp B8ZZM4 __UNKNOWN__ CCDS46379.1 . . . . . . . . . . . 0.003 -2.481585 0.00163 . . ENSG00000153165 ENST00000409886;ENST00000452099;ENST00000304514 T;T 0.23754 1.89;1.89 2.34 2.34 0.29019 . . . . . T 0.07638 0.0192 N 0.02011 -0.69 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.37979 -0.9682 9 0.02654 T 1 -2.2547 7.1228 0.25454 0.0:0.8499:0.0:0.1501 . 756 A6NKT7 RGPD3_HUMAN D 756;514;756 ENSP00000386588:N756D;ENSP00000303659:N756D ENSP00000303659:N756D N - 1 0 RGPD3 106416113 0.974000 0.33945 0.242000 0.24170 0.003000 0.03518 4.107000 0.57811 0.325000 0.23359 -1.206000 0.01644 AAC RGPD3-002 KNOWN not_best_in_genome_evidence|basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000329975.1 - ENST00000409886.3 Missense_Mutation SNP PCPG-TCGA-WB-A81J-Normal-SM-5EMMP ABCA13 154664 broad.mit.edu 37 7 48431693 48431693 + Missense_Mutation SNP G G A TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr7:48431693G>A ENST00000435803.1 + 38.0 11854 c.11830G>A c.(11830-11832)Gcg>Acg p.A3944T NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3944.0 ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}. transport (GO:0006810) integral component of membrane (GO:0016021) ATP binding (GO:0005524)|ATPase activity (GO:0016887) 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) 270.0 TTCCATAAAGGCGCCTCAGTG 0.527 0 107.0 109.0 108.0 7 48431693.0 2007.0 4174.0 6181.0 SO:0001583 missense AY204751 CCDS47584.1 7p12.3 2012-03-14 ENSG00000179869 ENSG00000179869 154664.0 154664.0 """ATP binding cassette transporters / subfamily A""" 14638.0 protein-coding gene gene with protein product 607807 12697998 Standard NM_152701 NM_152701 Approved FLJ33876, FLJ33951 uc003toq.2 Q86UQ4 OTTHUMG00000155840 ENST00000435803.1:c.11830G>A 7.__UNKNOWN__:g.48431693G>A ENSP00000411096:p.Ala3944Thr K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248 __UNKNOWN__ CCDS47584.1 . . . . . . . . . . G 12.52 1.961710 0.34659 . . ENSG00000179869 ENST00000435803 D 0.86030 -2.06 5.32 3.49 0.39957 ATPase, AAA+ type, core (1);ABC transporter-like (2); 0.180079 0.26331 U 0.024983 D 0.85234 0.5650 L 0.42008 1.315 0.80722 D 1 P;P 0.43314 0.713;0.803 P;P 0.49477 0.612;0.529 D 0.83977 0.0330 10 0.72032 D 0.01 . 14.2686 0.66138 0.0:0.0:0.7309:0.2691 . 1646;3944 Q86UQ4-3;Q86UQ4 .;ABCAD_HUMAN T 3944 ENSP00000411096:A3944T ENSP00000411096:A3944T A + 1 0 ABCA13 48402239 1.000000 0.71417 0.022000 0.16811 0.019000 0.09904 5.127000 0.64727 0.226000 0.20979 -2.051000 0.00406 GCG ABCA13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000341964.2 + ENST00000435803.1 Missense_Mutation SNP PCPG-TCGA-WB-A81J-Normal-SM-5EMMP SLC5A2 6524 broad.mit.edu 37 16 31501512 31501512 + Missense_Mutation SNP G G C TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr16:31501512G>C ENST00000330498.3 + 13.0 1772 c.1753G>C c.(1753-1755)Gta>Cta p.V585L SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000570164.1_3'UTR|C16orf58_ENST00000327237.2_3'UTR NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 585.0 carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) low-affinity glucose:sodium symporter activity (GO:0005362) endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25.0 Canagliflozin(DB08907)|Dapagliflozin(DB06292) CTCACTCCCTGTACAGAATGG 0.607 0 74.0 65.0 68.0 16 31501512.0 2197.0 4300.0 6497.0 SO:0001583 missense CCDS10714.1 16p11.2 2013-05-22 ENSG00000140675 ENSG00000140675 6524.0 6524.0 """Solute carriers""" 11037.0 protein-coding gene gene with protein product 182381 SGLT2 8244402 Standard NM_003041 Approved uc002ecf.4 P31639 OTTHUMG00000176620 ENST00000330498.3:c.1753G>C 16.__UNKNOWN__:g.31501512G>C ENSP00000327943:p.Val585Leu A2RRD2 __UNKNOWN__ CCDS10714.1 . . . . . . . . . . G 6.492 0.459056 0.12342 . . ENSG00000140675 ENST00000330498 D 0.85556 -2.0 5.22 2.17 0.27698 . 0.507468 0.19897 N 0.103616 T 0.70919 0.3279 N 0.24115 0.695 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.54721 -0.8251 10 0.27082 T 0.32 . 5.7705 0.18251 0.1756:0.158:0.6663:0.0 . 585 P31639 SC5A2_HUMAN L 585 ENSP00000327943:V585L ENSP00000327943:V585L V + 1 0 SLC5A2 31409013 0.001000 0.12720 0.177000 0.23020 0.582000 0.36321 0.673000 0.25203 0.211000 0.20683 0.561000 0.74099 GTA SLC5A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255627.2 + ENST00000330498.3 Missense_Mutation SNP PCPG-TCGA-WB-A81J-Normal-SM-5EMMP SERTM1 400120 broad.mit.edu 37 13 37269476 37269476 + Missense_Mutation SNP C C G TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr13:37269476C>G ENST00000315190.3 + 2.0 707 c.261C>G c.(259-261)ttC>ttG p.F87L NM_203451.2 NP_982276.2 A2A2V5 SRTM1_HUMAN serine-rich and transmembrane domain containing 1 87.0 integral component of membrane (GO:0016021) GAAGTTCTTTCACCAATTTGG 0.453 0 95.0 98.0 97.0 13 37269476.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS9358.1 13q13.3 2011-08-10 2011-08-10 2011-08-09 ENSG00000180440 ENSG00000180440 400120.0 400120.0 33792.0 protein-coding gene gene with protein product """chromosome 13 open reading frame 36""" C13orf36 Standard NM_203451 NM_203451 Approved uc001uvt.4 A2A2V5 OTTHUMG00000016735 ENST00000315190.3:c.261C>G 13.__UNKNOWN__:g.37269476C>G ENSP00000325776:p.Phe87Leu Q8N469 __UNKNOWN__ CCDS9358.1 . . . . . . . . . . C 20.8 4.056760 0.76074 . . ENSG00000180440 ENST00000315190 . . . 5.18 5.18 0.71444 . 0.000000 0.85682 D 0.000000 T 0.62307 0.2417 N 0.14661 0.345 0.54753 D 0.999986 P 0.49696 0.927 D 0.67725 0.953 T 0.69379 -0.5161 9 0.87932 D 0 -43.6337 17.6906 0.88268 0.0:1.0:0.0:0.0 . 87 A2A2V5 SRTM1_HUMAN L 87 . ENSP00000325776:F87L F + 3 2 SERTM1 36167476 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 7.093000 0.76937 2.398000 0.81561 0.557000 0.71058 TTC SERTM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044518.2 + ENST00000315190.3 Missense_Mutation SNP PCPG-TCGA-WB-A81J-Normal-SM-5EMMP ZNF860 344787 broad.mit.edu 37 3 32032205 32032205 + Missense_Mutation SNP C C A TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr3:32032205C>A ENST00000360311.4 + 2.0 2183 c.1634C>A c.(1633-1635)aCa>aAa p.T545K NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 545.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(3)|lung(4)|ovary(1) 8.0 GAATGTGACACAGTTTTCAGT 0.388 0 50.0 43.0 45.0 3 32032205.0 692.0 1591.0 2283.0 SO:0001583 missense AK294003 CCDS46784.1 3p24.1 2013-01-08 ENSG00000197385 ENSG00000197385 344787.0 344787.0 """Zinc fingers, C2H2-type"", ""-""" 34513.0 protein-coding gene gene with protein product Standard NM_001137674 Approved uc011axg.2 A6NHJ4 OTTHUMG00000155838 ENST00000360311.4:c.1634C>A 3.__UNKNOWN__:g.32032205C>A ENSP00000373274:p.Thr545Lys B4DFA4 __UNKNOWN__ CCDS46784.1 . . . . . . . . . . A 0.004 -2.252881 0.00268 . . ENSG00000197385 ENST00000360311 T 0.10382 2.88 0.309 0.309 0.15820 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.01222 0.0040 N 0.00016 -2.85 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.41574 -0.9501 8 . . . . 4.338 0.11095 0.6551:0.3449:0.0:0.0 . 545 A6NHJ4 ZN860_HUMAN K 545 ENSP00000373274:T545K . T + 2 0 ZNF860 32007209 0.687000 0.27671 0.000000 0.03702 0.000000 0.00434 2.547000 0.45786 -0.970000 0.03569 -0.878000 0.02970 ACA ZNF860-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000341957.1 + ENST00000360311.4 Missense_Mutation SNP PCPG-TCGA-WB-A81J-Normal-SM-5EMMP DIDO1 11083 broad.mit.edu 37 20 61512558 61512558 + Missense_Mutation SNP G G T TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr20:61512558G>T ENST00000266070.4 - 16.0 5075 c.4750C>A c.(4750-4752)Cgt>Agt p.R1584S DIDO1_ENST00000395343.1_Missense_Mutation_p.R1584S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1584.0 apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) 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) 99.0 Breast(26;5.68e-08) TGGGCACCACGTGCCGAGAGC 0.706 Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) 0 13.0 17.0 15.0 20 61512558.0 2074.0 4083.0 6157.0 SO:0001583 missense AB002331 CCDS13508.2, CCDS13509.1, CCDS33506.1 20q13.33 2013-01-28 2005-11-11 2005-11-11 ENSG00000101191 ENSG00000101191 11083.0 11083.0 """Zinc fingers, PHD-type""" 2680.0 protein-coding gene gene with protein product 604140 """chromosome 20 open reading frame 158"", ""death associated transcription factor 1""" C20orf158, DATF1 10393935 Standard NM_080796 NM_033081 Approved DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1 uc002ydr.2 Q9BTC0 OTTHUMG00000032945 ENST00000266070.4:c.4750C>A 20.__UNKNOWN__:g.61512558G>T ENSP00000266070:p.Arg1584Ser A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6 __UNKNOWN__ CCDS33506.1 . . . . . . . . . . G 0.832 -0.744789 0.03065 . . ENSG00000101191 ENST00000266070;ENST00000395343 T;T 0.06933 3.24;3.24 4.5 -0.448 0.12230 . 3.466110 0.02260 N 0.067445 T 0.03053 0.0090 N 0.02539 -0.55 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.33727 -0.9857 10 0.15066 T 0.55 2.2448 1.6537 0.02777 0.2812:0.3972:0.147:0.1747 . 1584 Q9BTC0 DIDO1_HUMAN S 1584 ENSP00000266070:R1584S;ENSP00000378752:R1584S ENSP00000266070:R1584S R - 1 0 DIDO1 60983003 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 0.368000 0.20399 -0.382000 0.07870 -1.434000 0.01081 CGT DIDO1-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000080091.2 - ENST00000266070.4 Missense_Mutation SNP PCPG-TCGA-WB-A81J-Normal-SM-5EMMP CBLN2 147381 broad.mit.edu 37 18 70205425 70205425 + Missense_Mutation SNP C C A TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr18:70205425C>A ENST00000269503.4 - 5.0 1434 c.661G>T c.(661-663)Gtg>Ttg p.V221L CBLN2_ENST00000584764.1_Missense_Mutation_p.V105L|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000581073.1_Missense_Mutation_p.V107L|CBLN2_ENST00000585159.1_Missense_Mutation_p.V221L NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 221.0 C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}. positive regulation of synapse assembly (GO:0051965) extracellular space (GO:0005615) endometrium(2)|lung(15) 17.0 Esophageal squamous(42;0.131) AGAGGAAACACCAAGAAGCCC 0.512 0 76.0 77.0 77.0 18 70205425.0 2203.0 4300.0 6503.0 SO:0001583 missense BC035789 CCDS11999.1 18q22.3 2007-11-19 ENSG00000141668 ENSG00000141668 147381.0 147381.0 1544.0 protein-coding gene gene with protein product 600433 7877445 Standard NM_182511 NM_182511 Approved uc002lkv.2 Q8IUK8 OTTHUMG00000132825 ENST00000269503.4:c.661G>T 18.__UNKNOWN__:g.70205425C>A ENSP00000269503:p.Val221Leu Q53Z56 __UNKNOWN__ CCDS11999.1 . . . . . . . . . . C 17.88 3.497852 0.64186 . . ENSG00000141668 ENST00000269503 T 0.26660 1.72 5.66 5.66 0.87406 Tumour necrosis factor-like (2);Complement C1q protein (4); 0.065948 0.64402 D 0.000015 T 0.20251 0.0487 N 0.17564 0.495 0.80722 D 1 B 0.27656 0.184 B 0.33799 0.17 T 0.05920 -1.0856 10 0.09590 T 0.72 -15.3682 20.1253 0.97977 0.0:1.0:0.0:0.0 . 221 Q8IUK8 CBLN2_HUMAN L 221 ENSP00000269503:V221L ENSP00000269503:V221L V - 1 0 CBLN2 68356405 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.776000 0.85560 2.832000 0.97577 0.655000 0.94253 GTG CBLN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256288.1 - ENST00000269503.4 Missense_Mutation SNP PCPG-TCGA-WB-A81J-Normal-SM-5EMMP ZBED1 9189 broad.mit.edu 37 X 2408700 2408700 + Missense_Mutation SNP C C T TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chrX:2408700C>T ENST00000381223.4 - 2.0 264 c.61G>A c.(61-63)Gcc>Acc p.A21T ZBED1_ENST00000381222.2_Missense_Mutation_p.A21T|ZBED1_ENST00000381218.3_Missense_Mutation_p.A21T|DHRSX_ENST00000334651.5_Intron NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 21.0 metabolic process (GO:0008152) nuclear chromosome (GO:0000228) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803) endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25.0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTGCTCTTGGCGCGGGGGTGG 0.582 0 138.0 141.0 140.0 X 2408700.0 2203.0 4296.0 6499.0 SO:0001583 missense AB018328 CCDS14118.1 Xp22.33 and Yp11 2013-05-03 2004-01-14 2004-01-16 ENSG00000214717 ENSG00000214717 9189.0 9189.0 """Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type""" 447.0 protein-coding gene gene with protein product 300178 """Ac-like transposable element""" ALTE 9872452, 9887332, 23533661 Standard NM_004729 NM_001171135 Approved TRAMP, KIAA0785, DREF, hDREF uc004cqh.2 O96006 OTTHUMG00000021069 ENST00000381223.4:c.61G>A X.__UNKNOWN__:g.2408700C>T ENSP00000370621:p.Ala21Thr Q96BY4 __UNKNOWN__ CCDS14118.1 . . . . . . . . . . C 13.65 2.301424 0.40694 . . ENSG00000214717 ENST00000381223;ENST00000381222;ENST00000381218;ENST00000461691 . . . 2.46 2.46 0.29980 Zinc finger, BED-type predicted (2); 0.115187 0.31290 U 0.007920 T 0.51041 0.1651 . . . 0.09310 N 1 D 0.89917 1.0 D 0.79108 0.992 T 0.45116 -0.9283 8 0.13108 T 0.6 -18.4507 12.7367 0.57228 0.0:1.0:0.0:0.0 . 21 O96006 ZBED1_HUMAN T 21 . ENSP00000370616:A21T A - 1 0 ZBED1 2418700 1.000000 0.71417 0.998000 0.56505 0.972000 0.66771 5.061000 0.64319 0.995000 0.38917 0.425000 0.28330 GCC ZBED1-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000144310.3 - ENST00000381223.4 Missense_Mutation SNP PCPG-TCGA-WB-A81J-Normal-SM-5EMMP XRN1 54464 broad.mit.edu 37 3 142054337 142054337 + Missense_Mutation SNP T T C TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr3:142054337T>C ENST00000392981.2 - 34.0 3939 c.3892A>G c.(3892-3894)Aag>Gag p.K1298E XRN1_ENST00000264951.4_Missense_Mutation_p.K1298E Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 1298.0 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075) cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020) 5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61.0 TTAGGACTCTTACACTCTTCT 0.313 0 98.0 102.0 101.0 3 142054337.0 2202.0 4300.0 6502.0 SO:0001583 missense AY137776 CCDS3123.1, CCDS63801.1, CCDS75028.1 3q23 2008-02-05 ENSG00000114127 ENSG00000114127 54464.0 54464.0 30654.0 protein-coding gene gene with protein product 607994 12515382 Standard NM_019001 XM_005247544 Approved SEP1 uc003eus.3 Q8IZH2 OTTHUMG00000159251 ENST00000392981.2:c.3892A>G 3.__UNKNOWN__:g.142054337T>C ENSP00000376707:p.Lys1298Glu Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39 __UNKNOWN__ . . . . . . . . . . T 11.99 1.802959 0.31869 . . ENSG00000114127 ENST00000264951;ENST00000392981 T;T 0.30981 1.51;1.51 5.07 3.86 0.44501 . 0.763514 0.12718 N 0.444951 T 0.20047 0.0482 N 0.19112 0.55 0.80722 D 1 B;B 0.20261 0.043;0.025 B;B 0.23852 0.049;0.013 T 0.03673 -1.1014 10 0.16896 T 0.51 -1.7113 10.4944 0.44768 0.0:0.0:0.163:0.837 . 1298;1298 Q8IZH2-2;Q8IZH2 .;XRN1_HUMAN E 1298 ENSP00000264951:K1298E;ENSP00000376707:K1298E ENSP00000264951:K1298E K - 1 0 XRN1 143537027 1.000000 0.71417 0.974000 0.42286 0.646000 0.38490 2.835000 0.48175 0.830000 0.34757 0.455000 0.32223 AAG XRN1-004 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000354200.1 - ENST00000392981.2 Missense_Mutation SNP PCPG-TCGA-WB-A81J-Normal-SM-5EMMP MYH4 4622 broad.mit.edu 37 17 10359164 10359164 + Missense_Mutation SNP G G A TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr17:10359164G>A ENST00000255381.2 - 18.0 2133 c.2023C>T c.(2023-2025)Cgg>Tgg p.R675W RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 675.0 Actin-binding. {ECO:0000250}.|Myosin motor. actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823) muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017) ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146) 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) 149.0 ATGATGCACCGCACAAAGTGG 0.433 0 140.0 140.0 140.0 17 10359164.0 2203.0 4297.0 6500.0 SO:0001583 missense CCDS11154.1 17p13.1 2013-09-19 2006-09-29 ENSG00000264424 ENSG00000264424 4622.0 4622.0 """Myosins / Myosin superfamily : Class II""" 7574.0 protein-coding gene gene with protein product 160742 """myosin, heavy polypeptide 4, skeletal muscle""" 8518795 Standard NM_017533 NM_017533 Approved MYH2B, MyHC-2B, MyHC-IIb uc002gmn.3 Q9Y623 OTTHUMG00000130365 ENST00000255381.2:c.2023C>T 17.__UNKNOWN__:g.10359164G>A ENSP00000255381:p.Arg675Trp __UNKNOWN__ CCDS11154.1 . . . . . . . . . . G 19.81 3.896201 0.72639 . . ENSG00000141048 ENST00000255381 D 0.90732 -2.72 4.87 3.88 0.44766 Myosin head, motor domain (2); 0.000000 0.36628 U 0.002491 D 0.97704 0.9247 H 0.99830 4.82 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.98866 1.0764 10 0.87932 D 0 . 14.979 0.71299 0.0:0.0:0.8565:0.1435 . 675 Q9Y623 MYH4_HUMAN W 675 ENSP00000255381:R675W ENSP00000255381:R675W R - 1 2 MYH4 10299889 1.000000 0.71417 0.987000 0.45799 0.934000 0.57294 5.602000 0.67612 1.143000 0.42306 0.455000 0.32223 CGG MYH4-001 KNOWN NAGNAG_splice_site|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252731.1 - ENST00000255381.2 Missense_Mutation SNP PCPG-TCGA-WB-A81J-Normal-SM-5EMMP ATP10D 57205 broad.mit.edu 37 4 47570852 47570852 + Splice_Site SNP A A G TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr4:47570852A>G ENST00000273859.3 + 16.0 3122 c.e16-1 NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66.0 TCTTGTTTCAAGGATGCCTGT 0.413 0 58.0 60.0 60.0 4 47570852.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AB040920 CCDS3476.1 4p12 2010-04-20 2007-09-19 ENSG00000145246 ENSG00000145246 57205.0 57205.0 """ATPases / P-type""" 13549.0 protein-coding gene gene with protein product """ATPase, Class V, type 10D""" 12532265 Standard NM_020453 NM_020453 Approved ATPVD, KIAA1487 uc003gxk.1 Q9P241 OTTHUMG00000160784 ENST00000273859.3:c.2854-1A>G 4.__UNKNOWN__:g.47570852A>G A2RRC8|D6REN2|Q8NC70|Q96SR3 __UNKNOWN__ CCDS3476.1 . . . . . . . . . . A 23.2 4.385331 0.82792 . . ENSG00000145246 ENST00000273859 . . . 6.07 6.07 0.98685 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 15.81 0.78552 1.0:0.0:0.0:0.0 . . . . . -1 . . . + . . ATP10D 47265609 1.000000 0.71417 0.997000 0.53966 0.879000 0.50718 7.794000 0.85869 2.326000 0.78906 0.533000 0.62120 . ATP10D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000216900.1 Intron + ENST00000273859.3 Splice_Site SNP PCPG-TCGA-WB-A81J-Normal-SM-5EMMP CRYBB1 1414 broad.mit.edu 37 22 26997913 26997913 + Missense_Mutation SNP C C G TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr22:26997913C>G ENST00000215939.2 - 5.0 635 c.505G>C c.(505-507)Gac>Cac p.D169H NM_001887.3 NP_001878.1 P53674 CRBB1_HUMAN crystallin, beta B1 169.0 Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}. visual perception (GO:0007601) structural constituent of eye lens (GO:0005212) breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31.0 GGTGCGTCGTCCCCCTGGATC 0.607 0 103.0 76.0 85.0 22 26997913.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS13840.1 22q12.1 2008-06-10 ENSG00000100122 ENSG00000100122 1414.0 1414.0 2397.0 protein-coding gene gene with protein product 600929 8575764, 12360425 Standard NM_001887 NM_001887 Approved uc003acy.1 P53674 OTTHUMG00000150980 ENST00000215939.2:c.505G>C 22.__UNKNOWN__:g.26997913C>G ENSP00000215939:p.Asp169His __UNKNOWN__ CCDS13840.1 . . . . . . . . . . C 15.13 2.742160 0.49151 . . ENSG00000100122 ENST00000215939 T 0.78003 -1.14 4.8 4.8 0.61643 Beta/gamma crystallin (5);Gamma-crystallin-related (1); 0.049341 0.85682 D 0.000000 D 0.91243 0.7240 H 0.94698 3.57 0.80722 D 1 D 0.76494 0.999 D 0.75484 0.986 D 0.93690 0.7006 10 0.87932 D 0 . 17.0174 0.86423 0.0:1.0:0.0:0.0 . 169 P53674 CRBB1_HUMAN H 169 ENSP00000215939:D169H ENSP00000215939:D169H D - 1 0 CRYBB1 25327913 1.000000 0.71417 0.990000 0.47175 0.057000 0.15508 7.114000 0.77103 2.468000 0.83385 0.591000 0.81541 GAC CRYBB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320767.1 - ENST00000215939.2 Missense_Mutation SNP PCPG-TCGA-WB-A81J-Normal-SM-5EMMP HNRNPM 4670 broad.mit.edu 37 19 8551959 8551959 + Splice_Site SNP G G A TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr19:8551959G>A ENST00000325495.4 + 15.0 2070 c.2029G>A c.(2029-2031)Ggc>Agc p.G677S HNRNPM_ENST00000348943.3_Splice_Site_p.G638S NM_005968.4 NP_005959.2 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 677.0 RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}. alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723) endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25.0 CAACGAGTGCGGTAAGTGTTG 0.527 0 263.0 208.0 227.0 19 8551959.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant L03532 CCDS12203.1, CCDS12204.1 19p13.2 2013-06-12 2008-04-18 ENSG00000099783 ENSG00000099783 4670.0 4670.0 """RNA binding motif (RRM) containing""" 5046.0 protein-coding gene gene with protein product """CEA receptor""" 160994 NAGR1, HNRPM 8441656, 7558047 Standard NM_005968 Approved HTGR1, HNRNPM4, HNRPM4, CEAR uc010dwe.3 P52272 OTTHUMG00000182383 ENST00000325495.4:c.2029+1G>A 19.__UNKNOWN__:g.8551959G>A Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492 __UNKNOWN__ CCDS12203.1 . . . . . . . . . . G 27.5 4.836583 0.91117 . . ENSG00000099783 ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473 T;T 0.45668 0.89;0.89 5.84 5.84 0.93424 Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3); 0.000000 0.85682 D 0.000000 T 0.74935 0.3782 M 0.93375 3.41 0.80722 D 1 D;D;P 0.89917 1.0;1.0;0.762 D;D;B 0.97110 0.999;1.0;0.112 T 0.81182 -0.1049 10 0.87932 D 0 . 18.7058 0.91637 0.0:0.0:1.0:0.0 . 677;638;562 P52272;P52272-2;Q59ES8 HNRPM_HUMAN;.;. S 677;638;562;234 ENSP00000325376:G677S;ENSP00000325732:G638S ENSP00000325376:G677S G + 1 0 HNRNPM 8457959 1.000000 0.71417 1.000000 0.80357 0.460000 0.32559 9.423000 0.97461 2.754000 0.94517 0.655000 0.94253 GGC HNRNPM-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000460894.1 Missense_Mutation + ENST00000325495.4 Splice_Site SNP PCPG-TCGA-WB-A81J-Normal-SM-5EMMP VWA3B 200403 broad.mit.edu 37 2 98928440 98928440 + Missense_Mutation SNP C C T TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr2:98928440C>T ENST00000477737.1 + 27.0 3884 c.3680C>T c.(3679-3681)tCc>tTc p.S1227F VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1227.0 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) 70.0 TCGGACGGCTCCTCCCACGGC 0.642 0 11.0 15.0 14.0 2 98928440.0 1891.0 4086.0 5977.0 SO:0001583 missense AL832761 CCDS42718.1 2q11.2 2008-02-05 ENSG00000168658 ENSG00000168658 200403.0 200403.0 28385.0 protein-coding gene gene with protein product 12477932 Standard NM_144992 NM_144992 Approved DKFZp686F2227, MGC26733 uc002syo.3 Q502W6 OTTHUMG00000153104 ENST00000477737.1:c.3680C>T 2.__UNKNOWN__:g.98928440C>T ENSP00000417955:p.Ser1227Phe B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02 __UNKNOWN__ CCDS42718.1 . . . . . . . . . . c 10.62 1.400723 0.25291 . . ENSG00000168658 ENST00000477737;ENST00000358269 T 0.07908 3.15 4.1 2.24 0.28232 . . . . . T 0.11665 0.0284 L 0.36672 1.1 0.09310 N 0.999999 P;P 0.47677 0.899;0.838 P;P 0.53809 0.735;0.466 T 0.16988 -1.0384 9 0.54805 T 0.06 . 5.0678 0.14591 0.2044:0.6887:0.0:0.107 . 619;1227 Q502W6-5;Q502W6 .;VWA3B_HUMAN F 1227;349 ENSP00000417955:S1227F ENSP00000351009:S349F S + 2 0 VWA3B 98294872 0.001000 0.12720 0.018000 0.16275 0.005000 0.04900 -0.009000 0.12765 0.659000 0.30945 -0.320000 0.08662 TCC VWA3B-020 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353469.2 + ENST00000477737.1 Missense_Mutation SNP PCPG-TCGA-WB-A81J-Normal-SM-5EMMP Unknown 100507415 bcgsc.ca 37 9 99884030 99884030 + RNA SNP T T C TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr9:99884030T>C RP11-520B13.4 (39803 upstream) : RNU6-798P (71174 downstream) CATACAGCCTTAAGCAAAGAA 0.567 0 SO:0001628 intergenic_variant 9.__UNKNOWN__:g.99884030T>C __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-WB-A81J-Normal-SM-5EMMP LRCH1 23143 bcgsc.ca 37 13 47260151 47260151 + Missense_Mutation SNP A A G TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr13:47260151A>G ENST00000389797.3 + 5.0 934 c.797A>G c.(796-798)aAc>aGc p.N266S LRCH1_ENST00000311191.6_Missense_Mutation_p.N266S|LRCH1_ENST00000389798.3_Missense_Mutation_p.N266S NM_001164211.1 NP_001157683 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 266.0 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) 26.0 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) CTTGAGAATAACCCTCTGCAG 0.463 0 71.0 68.0 69.0 13 47260151.0 2203.0 4300.0 6503.0 SO:0001583 missense AB023233 CCDS31972.1, CCDS53865.1, CCDS53866.1 13q14.11 2008-02-05 2004-05-27 2004-05-28 ENSG00000136141 ENSG00000136141 23143.0 23143.0 20309.0 protein-coding gene gene with protein product 610368 """calponin homology (CH) domain containing 1""" CHDC1 10231032 Standard NM_015116 NM_015116 Approved KIAA1016 uc001vbk.3 Q9Y2L9 OTTHUMG00000016877 ENST00000389797.3:c.797A>G 13.__UNKNOWN__:g.47260151A>G ENSP00000374447:p.Asn266Ser B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7 __UNKNOWN__ CCDS53865.1 . . . . . . . . . . A 23.7 4.450105 0.84101 . . ENSG00000136141 ENST00000311191;ENST00000389798;ENST00000389797;ENST00000463929;ENST00000478412 T;T;T;T 0.65916 1.58;1.58;1.58;-0.18 5.93 5.93 0.95920 . 0.000000 0.85682 D 0.000000 D 0.84853 0.5564 H 0.94620 3.56 0.80722 D 1 D;D;D;D 0.89917 0.999;0.999;0.999;1.0 D;D;D;D 0.91635 0.993;0.993;0.997;0.999 D 0.89024 0.3437 10 0.87932 D 0 -0.9909 15.5755 0.76380 1.0:0.0:0.0:0.0 . 266;266;266;266 Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9 .;.;.;LRCH1_HUMAN S 266;266;266;12;12 ENSP00000308493:N266S;ENSP00000374448:N266S;ENSP00000374447:N266S;ENSP00000419256:N12S ENSP00000308493:N266S N + 2 0 LRCH1 46158152 1.000000 0.71417 0.996000 0.52242 0.716000 0.41182 8.706000 0.91362 2.281000 0.76405 0.533000 0.62120 AAC LRCH1-004 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000354618.1 + ENST00000389797.3 Missense_Mutation SNP PCPG-TCGA-WB-A81J-Normal-SM-5EMMP OR2T7 81458 bcgsc.ca 37 1 248604827 248604827 + RNA SNP G G A TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr1:248604827G>A ENST00000460972.3 + 1.0 320 c.320G>A c.(319-321)gGa>gAa p.G107E P0C7T2 OR2T7_HUMAN olfactory receptor, family 2, subfamily T, member 7 107.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) TTCCTCCTAGGACTCATGTCC 0.552 0 SO:0001583 missense 1q44 2013-09-05 2004-03-10 ENSG00000227152 ENSG00000227152 81458.0 81458.0 """GPCR / Class A : Olfactory receptors""" 15019.0 protein-coding gene gene with protein product OR2T7P Standard NG_004272 Approved OST723 P0C7T2 OTTHUMG00000040449 ENST00000460972.3:c.320G>A 1.__UNKNOWN__:g.248604827G>A ENSP00000475521:p.Gly107Glu __UNKNOWN__ OR2T7-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000097345.3 + ENST00000460972.3 Missense_Mutation SNP PCPG-TCGA-WB-A81J-Normal-SM-5EMMP LDB2 9079 ucsc.edu 37 4 16510227 16510227 + Silent SNP G G A TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr4:16510227G>A ENST00000515064.1 - 7.0 898 c.822C>T c.(820-822)aaC>aaT p.N274N LDB2_ENST00000502640.1_Silent_p.N274N|LDB2_ENST00000441778.2_Silent_p.N274N|LDB2_ENST00000503178.2_Silent_p.N150N|LDB2_ENST00000304523.5_Silent_p.N274N|RP11-446J8.1_ENST00000512370.1_RNA O43679 LDB2_HUMAN LIM domain binding 2 274.0 epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019) nucleus (GO:0005634)|transcription factor complex (GO:0005667) LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712) breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33.0 TGTTTGCATTGTTCCCAGCGC 0.498 0 243.0 194.0 211.0 4 16510227.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF068651 CCDS3420.1, CCDS47031.1 4p16 2008-08-01 ENSG00000169744 ENSG00000169744 9079.0 9079.0 6533.0 protein-coding gene gene with protein product 603450 9853615, 9880598, 10861853 Standard NM_001290 Approved CLIM1, LDB1 uc003goz.3 O43679 OTTHUMG00000048212 ENST00000515064.1:c.822C>T 4.__UNKNOWN__:g.16510227G>A O60619|O75480 __UNKNOWN__ . . . . . . . . . . G 0.522 -0.861662 0.02610 . . ENSG00000169744 ENST00000507464 . . . 5.83 5.83 0.93111 . . . . . T 0.75406 0.3845 . . . 0.80722 D 1 . . . . . . T 0.72623 -0.4237 4 . . . -10.7375 19.1044 0.93287 0.0:0.0:1.0:0.0 . . . . I 195 . . T - 2 0 LDB2 16119325 1.000000 0.71417 0.080000 0.20451 0.087000 0.18053 6.075000 0.71261 2.756000 0.94617 0.655000 0.94253 ACA LDB2-007 NOVEL basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000359767.1 - ENST00000515064.1 Silent SNP PCPG-TCGA-WB-A81J-Normal-SM-5EMMP FBXO8 26269 broad.mit.edu 37 4 175183979 175183979 + Missense_Mutation SNP T T C TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr4:175183979T>C ENST00000393674.2 - 2.0 1127 c.265A>G c.(265-267)Act>Gct p.T89A FBXO8_ENST00000503293.1_Intron NM_012180.2 NP_036312.2 Q9NRD0 FBX8_HUMAN F-box protein 8 89.0 F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}. actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511) cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151) ARF guanyl-nucleotide exchange factor activity (GO:0005086) breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1) 14.0 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) CAAAGGTCAGTTGCATTCAGG 0.423 0 143.0 123.0 129.0 4 175183979.0 2203.0 4300.0 6503.0 SO:0001583 missense AF174596 CCDS3820.1 4q34.1 2008-02-05 2004-06-15 ENSG00000164117 26269.0 26269.0 """F-boxes / ""other""""" 13587.0 protein-coding gene gene with protein product 605649 """F-box only protein 8""" 10531035, 10531037 Standard NM_012180 NM_012180 Approved FBX8, FBS uc003itp.3 Q9NRD0 ENST00000393674.2:c.265A>G 4.__UNKNOWN__:g.175183979T>C ENSP00000377280:p.Thr89Ala B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4 __UNKNOWN__ CCDS3820.1 . . . . . . . . . . T 22.6 4.311757 0.81358 . . ENSG00000164117 ENST00000393674;ENST00000513696 T;T 0.41758 0.99;0.99 5.67 5.67 0.87782 F-box domain, cyclin-like (1);F-box domain, Skp2-like (1); 0.000000 0.85682 D 0.000000 T 0.56746 0.2006 L 0.39566 1.225 0.80722 D 1 D 0.76494 0.999 D 0.78314 0.991 T 0.59327 -0.7475 10 0.72032 D 0.01 . 15.9168 0.79524 0.0:0.0:0.0:1.0 . 89 Q9NRD0 FBX8_HUMAN A 89 ENSP00000377280:T89A;ENSP00000427506:T89A ENSP00000377280:T89A T - 1 0 FBXO8 175420554 1.000000 0.71417 0.997000 0.53966 0.994000 0.84299 7.396000 0.79891 2.166000 0.68216 0.383000 0.25322 ACT FBXO8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000362085.2 - ENST00000393674.2 Missense_Mutation SNP PCPG-TCGA-WB-A81K-Normal-SM-5EMMT FAT4 79633 broad.mit.edu 37 4 126408600 126408600 + Missense_Mutation SNP C C G TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr4:126408600C>G ENST00000394329.3 + 16.0 12930 c.12917C>G c.(12916-12918)aCt>aGt p.T4306S FAT4_ENST00000335110.5_Missense_Mutation_p.T2547S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4306.0 Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}. branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307) apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) 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) 355.0 CACTGGCACACTTTTCTAATT 0.398 0 80.0 82.0 82.0 4 126408600.0 2203.0 4300.0 6503.0 SO:0001583 missense AY356402 CCDS3732.3 4q28.1 2013-05-31 2013-05-31 ENSG00000196159 ENSG00000196159 79633.0 79633.0 """Cadherins / Cadherin-related""" 23109.0 protein-coding gene gene with protein product """cadherin-related family member 11""" 612411 """FAT tumor suppressor homolog 4 (Drosophila)""" 15003449 Standard NM_024582 NM_024582 Approved CDHF14, FAT-J, CDHR11 uc003ifj.4 Q6V0I7 OTTHUMG00000133100 ENST00000394329.3:c.12917C>G 4.__UNKNOWN__:g.126408600C>G ENSP00000377862:p.Thr4306Ser A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6 __UNKNOWN__ CCDS3732.3 . . . . . . . . . . C 10.72 1.431081 0.25726 . . ENSG00000196159 ENST00000394329;ENST00000335110 T;T 0.79141 -1.15;-1.24 5.06 4.21 0.49690 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1); 0.248964 0.20502 U 0.091070 T 0.62146 0.2404 N 0.17764 0.52 0.36175 D 0.849033 B;B;B 0.09022 0.002;0.001;0.0 B;B;B 0.12837 0.005;0.008;0.005 T 0.58239 -0.7671 10 0.09084 T 0.74 . 13.8681 0.63600 0.1538:0.8462:0.0:0.0 . 2547;4306;4306 Q6V0I7-2;Q6V0I7;Q6V0I7-3 .;FAT4_HUMAN;. S 4306;2547 ENSP00000377862:T4306S;ENSP00000335169:T2547S ENSP00000335169:T2547S T + 2 0 FAT4 126628050 0.998000 0.40836 0.942000 0.38095 0.719000 0.41307 4.146000 0.58072 1.102000 0.41551 0.650000 0.86243 ACT FAT4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256765.2 + ENST00000394329.3 Missense_Mutation SNP PCPG-TCGA-WB-A81K-Normal-SM-5EMMT HAO2 51179 broad.mit.edu 37 1 119934877 119934877 + Missense_Mutation SNP G G A TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr1:119934877G>A ENST00000325945.3 + 6.0 989 c.916G>A c.(916-918)Ggc>Agc p.G306S HAO2_ENST00000361035.4_Missense_Mutation_p.G319S NM_001005783.1|NM_016527.2 NP_001005783.1|NP_057611.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 306.0 FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}. fatty acid oxidation (GO:0019395) extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777) (S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30.0 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) AATCCTATGGGGCCTTGCCTG 0.498 0 112.0 105.0 107.0 1 119934877.0 2203.0 4300.0 6503.0 SO:0001583 missense AF231917 CCDS901.1 1p13.3-p13.1 2008-07-18 ENSG00000116882 ENSG00000116882 51179.0 51179.0 1.1.3.15 4810.0 protein-coding gene gene with protein product """(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16""" 605176 10777549 Standard NM_001005783 XM_005270913 Approved HAOX2, GIG16 uc001ehr.1 Q9NYQ3 OTTHUMG00000012410 ENST00000325945.3:c.916G>A 1.__UNKNOWN__:g.119934877G>A ENSP00000316339:p.Gly306Ser Q2TU86|Q5QP00|Q9UJS6 __UNKNOWN__ CCDS901.1 . . . . . . . . . . G 21.6 4.170008 0.78452 . . ENSG00000116882 ENST00000361035;ENST00000325945 T;T 0.42900 0.96;0.96 6.07 6.07 0.98685 Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1); 0.045710 0.85682 D 0.000000 T 0.63153 0.2487 M 0.78285 2.405 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.59931 -0.7361 9 . . . -21.514 20.6593 0.99626 0.0:0.0:1.0:0.0 . 306 Q9NYQ3 HAOX2_HUMAN S 319;306 ENSP00000354314:G319S;ENSP00000316339:G306S . G + 1 0 HAO2 119736400 1.000000 0.71417 1.000000 0.80357 0.462000 0.32619 9.331000 0.96430 2.885000 0.99019 0.655000 0.94253 GGC HAO2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000034984.1 + ENST00000325945.3 Missense_Mutation SNP PCPG-TCGA-WB-A81K-Normal-SM-5EMMT SLC36A2 153201 broad.mit.edu 37 5 150722489 150722489 + Missense_Mutation SNP T T A TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr5:150722489T>A ENST00000335244.4 - 4.0 529 c.400A>T c.(400-402)Aac>Tac p.N134Y SLC36A2_ENST00000521967.1_Missense_Mutation_p.N134Y NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 134.0 amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193) 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) 33.0 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Cycloserine(DB00260) GCGTTGGGGTTGGCTTCTAGT 0.517 0 179.0 143.0 155.0 5 150722489.0 2203.0 4300.0 6503.0 SO:0001583 missense AY162214 CCDS4315.1 5q33.1 2013-05-22 ENSG00000186335 ENSG00000186335 153201.0 153201.0 """Solute carriers""" 18762.0 protein-coding gene gene with protein product 608331 11959859 Standard NM_181776 Approved PAT2, tramdorin, TRAMD1 uc003lty.3 Q495M3 OTTHUMG00000130129 ENST00000335244.4:c.400A>T 5.__UNKNOWN__:g.150722489T>A ENSP00000334223:p.Asn134Tyr Q495M4|Q495M6|Q6ZWK5|Q7Z6B5 __UNKNOWN__ CCDS4315.1 . . . . . . . . . . T 11.94 1.788889 0.31685 . . ENSG00000186335 ENST00000335244;ENST00000521967 T;T 0.09445 3.81;2.98 4.87 2.51 0.30379 . 0.519730 0.22688 N 0.056855 T 0.06462 0.0166 N 0.14661 0.345 0.80722 D 1 B;B;B 0.19331 0.035;0.004;0.001 B;B;B 0.17722 0.019;0.016;0.003 T 0.26780 -1.0093 10 0.66056 D 0.02 -9.5167 8.1702 0.31249 0.0:0.2361:0.0:0.7639 . 134;134;134 B4DMY0;E5RJJ5;Q495M3 .;.;S36A2_HUMAN Y 134 ENSP00000334223:N134Y;ENSP00000430535:N134Y ENSP00000334223:N134Y N - 1 0 SLC36A2 150702682 0.019000 0.18553 0.969000 0.41365 0.654000 0.38779 0.627000 0.24506 0.456000 0.26937 0.533000 0.62120 AAC SLC36A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252437.1 - ENST00000335244.4 Missense_Mutation SNP PCPG-TCGA-WB-A81K-Normal-SM-5EMMT PRTG 283659 broad.mit.edu 37 15 55965852 55965852 + Silent SNP A A G TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr15:55965852A>G ENST00000389286.4 - 10.0 1616 c.1569T>C c.(1567-1569)atT>atC p.I523I NM_173814.4 NP_776175.2 protogenin breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41.0 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TTGTCAAACTAATTTCAGGAG 0.443 0 76.0 78.0 77.0 15 55965852.0 1853.0 4091.0 5944.0 SO:0001819 synonymous_variant AK098622 CCDS42040.1 15q21.3 2013-02-11 2010-06-24 ENSG00000166450 ENSG00000166450 283659.0 283659.0 """Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 26373.0 protein-coding gene gene with protein product """immunoglobulin superfamily, DCC subclass, member 5""" 613261 """protogenin homolog (Gallus gallus)""" Standard NM_173814 NM_173814 Approved FLJ25756, IGDCC5 uc002adg.3 Q2VWP7 ENST00000389286.4:c.1569T>C 15.__UNKNOWN__:g.55965852A>G __UNKNOWN__ CCDS42040.1 PRTG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000419357.1 - ENST00000389286.4 Silent SNP PCPG-TCGA-WB-A81K-Normal-SM-5EMMT NSUN2 54888 broad.mit.edu 37 5 6600272 6600272 + Missense_Mutation SNP G G T TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr5:6600272G>T ENST00000506139.1 - 18.0 2028 c.1966C>A c.(1966-1968)Ccc>Acc p.P656T NSUN2_ENST00000264670.6_Missense_Mutation_p.P691T|NSUN2_ENST00000539938.1_Missense_Mutation_p.P455T NM_001193455.1 NP_001180384.1 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 691.0 mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41.0 TCATTCTTGGGCACAAAAGTT 0.498 0 83.0 84.0 84.0 5 6600272.0 2203.0 4300.0 6503.0 SO:0001583 missense AK000310 CCDS3869.1, CCDS54832.1 5p15.32 2014-01-31 2012-06-12 ENSG00000037474 ENSG00000037474 54888.0 54888.0 """NOP2/Sun domain containing""" 25994.0 protein-coding gene gene with protein product """tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein""" 610916 """NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5""" MRT5 17071714, 22541559 Standard NM_017755 NM_017755 Approved FLJ20303, TRM4, Misu uc003jdu.3 Q08J23 OTTHUMG00000090455 ENST00000506139.1:c.1966C>A 5.__UNKNOWN__:g.6600272G>T ENSP00000420957:p.Pro656Thr A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9 __UNKNOWN__ CCDS54832.1 . . . . . . . . . . G 18.81 3.704114 0.68615 . . ENSG00000037474 ENST00000264670;ENST00000539938;ENST00000506139 T;T;T 0.69040 -0.37;-0.37;-0.37 5.43 5.43 0.79202 . 0.048610 0.85682 D 0.000000 T 0.75852 0.3906 M 0.78049 2.395 0.58432 D 0.999995 D;B;B 0.54397 0.966;0.444;0.262 P;B;B 0.51016 0.656;0.206;0.206 T 0.73814 -0.3864 10 0.23891 T 0.37 -25.1087 19.2497 0.93919 0.0:0.0:1.0:0.0 . 656;691;691 B4DQW2;Q08J23;A8K529 .;NSUN2_HUMAN;. T 691;455;656 ENSP00000264670:P691T;ENSP00000444338:P455T;ENSP00000420957:P656T ENSP00000264670:P691T P - 1 0 NSUN2 6653272 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 5.633000 0.67825 2.532000 0.85374 0.563000 0.77884 CCC NSUN2-004 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000365825.1 - ENST00000506139.1 Missense_Mutation SNP PCPG-TCGA-WB-A81K-Normal-SM-5EMMT CD244 51744 broad.mit.edu 37 1 160801173 160801173 + Silent SNP G G A TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr1:160801173G>A ENST00000368033.3 - 9.0 1159 c.1077C>T c.(1075-1077)agC>agT p.S359S CD244_ENST00000368034.4_Silent_p.S354S|CD244_ENST00000322302.7_Silent_p.S262S Q9BZW8 CD244_HUMAN CD244 molecule, natural killer cell receptor 2B4 359.0 blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165) external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor activity (GO:0004872) central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18.0 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GCTCTTTGCGGCTCAATCGAG 0.458 0 151.0 145.0 147.0 1 160801173.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF105261 CCDS1210.1, CCDS53398.1, CCDS53399.1 1q23.1 2013-01-11 2006-03-29 ENSG00000122223 ENSG00000122223 51744.0 51744.0 """CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 18171.0 protein-coding gene gene with protein product 605554 """natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4""" 3772297, 10458320 Standard NM_016382 NM_016382 Approved 2B4, NAIL, NKR2B4, Nmrk, SLAMF4 uc009wtq.3 Q9BZW8 OTTHUMG00000028606 ENST00000368033.3:c.1077C>T 1.__UNKNOWN__:g.160801173G>A Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288 __UNKNOWN__ CCDS53399.1 CD244-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000071469.1 - ENST00000368033.3 Silent SNP PCPG-TCGA-WB-A81K-Normal-SM-5EMMT NDNL2 56160 broad.mit.edu 37 15 29561154 29561154 + Silent SNP C C T TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr15:29561154C>T ENST00000332303.4 - 1.0 879 c.756G>A c.(754-756)ccG>ccA p.P252P FAM189A1_ENST00000261275.4_Intron NM_138704.3 NP_619649.1 Q96MG7 MAGG1_HUMAN necdin-like 2 252.0 Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}. DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915) breast(3)|large_intestine(2)|lung(3) 8.0 all_lung(180;4.69e-11)|Breast(32;0.0013) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GGTTGGTTCGCGGGCCCCACT 0.532 0 83.0 90.0 88.0 15 29561154.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF490510 CCDS10023.1 15q13.1 2008-02-01 ENSG00000185115 ENSG00000185115 56160.0 56160.0 7677.0 protein-coding gene gene with protein product 608243 18086888 Standard NM_138704 NM_138704 Approved HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3 uc001zco.3 Q96MG7 OTTHUMG00000129261 ENST00000332303.4:c.756G>A 15.__UNKNOWN__:g.29561154C>T Q8IW16|Q8TEI6|Q9H214 __UNKNOWN__ CCDS10023.1 NDNL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251370.1 - ENST00000332303.4 Silent SNP PCPG-TCGA-WB-A81K-Normal-SM-5EMMT ECD 11319 broad.mit.edu 37 10 74899424 74899424 + Missense_Mutation SNP A A T TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr10:74899424A>T ENST00000372979.4 - 10.0 1405 c.1199T>A c.(1198-1200)cTt>cAt p.L400H ECD_ENST00000454759.2_Missense_Mutation_p.L357H|ECD_ENST00000430082.2_Missense_Mutation_p.L433H NM_007265.2 NP_009196.1 O95905 SGT1_HUMAN ecdysoneless homolog (Drosophila) 400.0 cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634) transcription coactivator activity (GO:0003713) 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) 21.0 Prostate(51;0.0119) TTCTTTCTTAAGGTCTTCTAT 0.348 0 261.0 282.0 275.0 10 74899424.0 2203.0 4300.0 6503.0 SO:0001583 missense BC000721 CCDS7321.1, CCDS44433.1, CCDS44434.1 10q22.3 2006-02-07 ENSG00000122882 11319.0 11319.0 17029.0 protein-coding gene gene with protein product 9928932, 15128659 Standard NM_007265 NM_007265 Approved hSGT1, GCR2 uc001jtn.3 O95905 ENST00000372979.4:c.1199T>A 10.__UNKNOWN__:g.74899424A>T ENSP00000362070:p.Leu400His C9JX46|E9PAW8 __UNKNOWN__ CCDS7321.1 . . . . . . . . . . A 20.8 4.048048 0.75846 . . ENSG00000122882 ENST00000372979;ENST00000430082;ENST00000454759 T;T;T 0.19669 2.13;2.13;2.13 4.78 4.78 0.61160 . 0.124899 0.56097 D 0.000036 T 0.42653 0.1212 M 0.76574 2.34 0.53688 D 0.999972 D;D;D 0.89917 0.999;1.0;0.999 D;D;D 0.74674 0.965;0.984;0.975 T 0.26189 -1.0110 10 0.23891 T 0.37 1.8398 12.2881 0.54803 1.0:0.0:0.0:0.0 . 357;433;400 E9PAW8;C9JX46;O95905 .;.;SGT1_HUMAN H 400;433;357 ENSP00000362070:L400H;ENSP00000401566:L433H;ENSP00000395786:L357H ENSP00000362070:L400H L - 2 0 ECD 74569430 1.000000 0.71417 1.000000 0.80357 0.900000 0.52787 6.877000 0.75562 1.985000 0.57927 0.533000 0.62120 CTT ECD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048606.1 - ENST00000372979.4 Missense_Mutation SNP PCPG-TCGA-WB-A81K-Normal-SM-5EMMT NCAN 1463 broad.mit.edu 37 19 19329798 19329798 + Missense_Mutation SNP G G A TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr19:19329798G>A ENST00000252575.6 + 3.0 247 c.148G>A c.(148-150)Gcg>Acg p.A50T NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 50.0 Ig-like V-type. axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281) extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540) breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64.0 Epithelial(12;0.00544) Hyaluronan(DB08818) AGTGCAGGCTGCGCTGGCGGA 0.642 0 31.0 31.0 31.0 19 19329798.0 2200.0 4294.0 6494.0 SO:0001583 missense AF026547 CCDS12397.1 19p12 2014-01-30 2007-02-15 2007-02-15 ENSG00000130287 ENSG00000130287 1463.0 1463.0 """Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands""" 2465.0 protein-coding gene gene with protein product """neurocan proteoglycan""" 600826 """chondroitin sulfate proteoglycan 3""" CSPG3 1326557, 21353194 Standard NM_004386 NM_004386 Approved uc002nlz.3 O14594 ENST00000252575.6:c.148G>A 19.__UNKNOWN__:g.19329798G>A ENSP00000252575:p.Ala50Thr Q9UPK6 __UNKNOWN__ CCDS12397.1 . . . . . . . . . . G 14.10 2.435118 0.43224 . . ENSG00000130287 ENST00000539499;ENST00000252575 T 0.67865 -0.29 4.55 4.55 0.56014 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1); 0.204155 0.24523 N 0.037787 T 0.51346 0.1669 N 0.11064 0.09 0.29015 N 0.886618 P 0.43826 0.818 P 0.47864 0.559 T 0.46105 -0.9215 10 0.22109 T 0.4 -12.0853 10.1327 0.42689 0.0:0.0:0.8:0.2 . 50 O14594 NCAN_HUMAN T 64;50 ENSP00000252575:A50T ENSP00000252575:A50T A + 1 0 NCAN 19190798 0.075000 0.21258 0.135000 0.22099 0.723000 0.41478 2.610000 0.46325 2.060000 0.61445 0.491000 0.48974 GCG NCAN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000460111.2 + ENST00000252575.6 Missense_Mutation SNP PCPG-TCGA-WB-A81K-Normal-SM-5EMMT CYP1A1 1543 bcgsc.ca 37 15 75013643 75013643 + Missense_Mutation SNP G G A TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr15:75013643G>A ENST00000395049.4 - 5.0 1145 c.1063C>T c.(1063-1065)Cgg>Tgg p.R355W CYP1A1_ENST00000379727.3_Missense_Mutation_p.R355W|CYP1A1_ENST00000395048.2_Missense_Mutation_p.R355W|CYP1A1_ENST00000564596.1_Missense_Mutation_p.R94W|CYP1A1_ENST00000567032.1_Missense_Mutation_p.R355W P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 355.0 9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739) aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576) 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) 34.0 Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682) CGGGGCCGCCGTGACCTGCCA 0.602 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia G 1.0 0.0005 2184.0 0.0017 1.0 , , 0.0003 0.0005 0.9547 LOWCOV,EXOME 0.001 SNP 0 67.0 66.0 66.0 15 75013643.0 2197.0 4296.0 6493.0 SO:0001583 missense Familial Cancer Database ;AIMAH, Cushing disease, Adrenal, Familial BC023019 CCDS10268.1 15q24.1 2007-12-14 2003-01-14 ENSG00000140465 ENSG00000140465 1543.0 1543.0 1.14.14.1 """Cytochrome P450s""" 2595.0 protein-coding gene gene with protein product 108330 """cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1""" CYP1 15128046 Standard NM_000499 NM_000499 Approved P450DX, P1-450, P450-C, CP11 uc002ayp.4 P04798 OTTHUMG00000142812 ENST00000395049.4:c.1063C>T 15.__UNKNOWN__:g.75013643G>A ENSP00000378489:p.Arg355Trp A4F3V9|A4F3W0|Q53G18 __UNKNOWN__ 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 G 12.63 1.996056 0.35226 . . ENSG00000140465 ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062 T;T;T 0.71698 -0.59;-0.59;-0.59 5.17 4.23 0.50019 . 0.000000 0.85682 D 0.000000 D 0.90779 0.7105 H 0.99746 4.745 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.998 D 0.93203 0.6593 10 0.87932 D 0 . 12.1462 0.54024 0.0:0.0:0.5234:0.4766 . 355;355 E7EMT5;P04798 .;CP1A1_HUMAN W 355;355;355;327 ENSP00000369050:R355W;ENSP00000378488:R355W;ENSP00000378489:R355W ENSP00000268062:R327W R - 1 2 CYP1A1 72800696 0.996000 0.38824 0.321000 0.25320 0.004000 0.04260 2.488000 0.45276 1.139000 0.42245 0.655000 0.94253 CGG CYP1A1-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000421250.1 - ENST00000395049.4 Missense_Mutation SNP PCPG-TCGA-WB-A81K-Normal-SM-5EMMT PDIA2 64714 bcgsc.ca 37 16 336355 336355 + Silent SNP C C A TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr16:336355C>A ENST00000219406.6 + 8.0 1140 c.1122C>A c.(1120-1122)ccC>ccA p.P374P PDIA2_ENST00000404312.1_Silent_p.P371P NM_006849.2 NP_006840.2 Q13087 PDIA2_HUMAN protein disulfide isomerase family A, member 2 374.0 Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}. cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976) endoplasmic reticulum (GO:0005783) protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496) breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 17.0 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) TCCCCCAGCCCTATCTCCTGA 0.617 0 46.0 49.0 48.0 16 336355.0 1867.0 4097.0 5964.0 SO:0001819 synonymous_variant U19948 CCDS42089.1 16p13.3 2009-11-20 2005-06-29 2005-03-03 ENSG00000185615 ENSG00000185615 64714.0 64714.0 5.3.4.1 """Protein disulfide isomerases""" 14180.0 protein-coding gene gene with protein product 608012 """protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2""" PDIP 8561901 Standard NM_006849 NM_006849 Approved PDA2, PDI, PDIR uc002cgo.1 Q13087 OTTHUMG00000064891 ENST00000219406.6:c.1122C>A 16.__UNKNOWN__:g.336355C>A A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95 __UNKNOWN__ CCDS42089.1 PDIA2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000139315.3 + ENST00000219406.6 Silent SNP PCPG-TCGA-WB-A81K-Normal-SM-5EMMT PAOX 196743 broad.mit.edu 37 10 135193918 135193918 + Missense_Mutation SNP C C A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr10:135193918C>A ENST00000278060.5 + 2.0 680 c.597C>A c.(595-597)agC>agA p.S199R PAOX_ENST00000357296.3_Missense_Mutation_p.S199R|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_Intron|PAOX_ENST00000480071.2_Missense_Mutation_p.S199R NM_152911.2 NP_690875.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 337.0 cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805) peroxisomal matrix (GO:0005782) N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901) cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23.0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) GCACCCACAGCATGGACCTGG 0.627 0 32.0 36.0 34.0 10 135193918.0 2202.0 4300.0 6502.0 SO:0001583 missense BC032778 CCDS7682.1, CCDS7683.1, CCDS7684.1 10q26.3 2003-11-13 ENSG00000148832 ENSG00000148832 196743.0 196743.0 20837.0 protein-coding gene gene with protein product 615853 12660232 Standard NM_152911 NM_207127 Approved PAO uc001lmv.3 Q6QHF9 OTTHUMG00000019318 ENST00000278060.5:c.597C>A 10.__UNKNOWN__:g.135193918C>A ENSP00000278060:p.Ser199Arg D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3 __UNKNOWN__ CCDS7683.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 19.71|19.71 3.878960|3.878960 0.72294|0.72294 .|. .|. ENSG00000148832|ENSG00000148832 ENST00000368534|ENST00000368542;ENST00000278060;ENST00000357296;ENST00000480071 .|D;D;D .|0.92545 .|-3.06;-3.06;-3.06 4.74|4.74 1.3|1.3 0.21679|0.21679 .|. .|0.079629 .|0.85682 .|D .|0.000000 .|D .|0.94837 .|0.8332 M|M 0.83603|0.83603 2.65|2.65 0.80722|0.80722 D|D 1|1 .|D;D;D .|0.89917 .|1.0;0.997;0.996 .|D;D;D .|0.75484 .|0.986;0.968;0.943 .|D .|0.93085 .|0.6495 .|10 .|0.87932 .|D .|0 .|-33.3414 7.2886|7.2886 0.26354|0.26354 0.0:0.5827:0.0:0.4173|0.0:0.5827:0.0:0.4173 .|. .|199;199;199 .|Q6QHF9-5;Q6QHF9-4;Q6QHF9-2 .|.;.;. .|R -1|199 .|ENSP00000278060:S199R;ENSP00000349847:S199R;ENSP00000435514:S199R .|ENSP00000278060:S199R .|S +|+ .|3 .|2 PAOX|PAOX 135043908|135043908 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.996000|0.996000 0.88848|0.88848 2.781000|2.781000 0.47750|0.47750 0.422000|0.422000 0.26005|0.26005 0.563000|0.563000 0.77884|0.77884 .|AGC PAOX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051146.2 + ENST00000278060.5 Missense_Mutation SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 POLE3 54107 broad.mit.edu 37 9 116171264 116171264 + Splice_Site SNP C C A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr9:116171264C>A ENST00000374171.4 - 5.0 442 c.e5-1 POLE3_ENST00000479871.1_Splice_Site|POLE3_ENST00000374169.3_Splice_Site NM_001278255.1|NM_017443.4 NP_001265184.1|NP_059139.3 Q9NRF9 DPOE3_HUMAN polymerase (DNA directed), epsilon 3, accessory subunit DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|histone H3 acetylation (GO:0043966) Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|epsilon DNA polymerase complex (GO:0008622)|nucleus (GO:0005634) DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565) large_intestine(2)|lung(1) 3.0 Cladribine(DB00242) CGCCTATATGCTGTAAGGACG 0.483 0 101.0 78.0 86.0 9 116171264.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AF261689 CCDS6795.1 9q33 2012-05-18 2012-05-18 ENSG00000148229 ENSG00000148229 54107.0 54107.0 """DNA polymerases""" 13546.0 protein-coding gene gene with protein product """histone fold protein CHRAC17"", ""DNA polymerase epsilon p17 subunit"", ""chromatin accessibility complex 17"", ""arsenic transactivated protein""" 607267 """polymerase (DNA directed), epsilon 3 (p17 subunit)""" 10801849, 10880450 Standard NM_017443 NM_017443 Approved CHRAC17, Ybl1, p17, CHARAC17 uc031tet.1 Q9NRF9 OTTHUMG00000020523 ENST00000374171.4:c.272-1G>T 9.__UNKNOWN__:g.116171264C>A Q5W0U1|Q8N758|Q8NCE5|Q9NR32 __UNKNOWN__ CCDS6795.1 . . . . . . . . . . C 14.01 2.407588 0.42715 . . ENSG00000148229 ENST00000374171;ENST00000374169 . . . 4.39 4.39 0.52855 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 15.5529 0.76167 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . POLE3 115211085 1.000000 0.71417 0.559000 0.28332 0.067000 0.16453 5.276000 0.65580 1.991000 0.58162 0.563000 0.77884 . POLE3-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053730.1 Intron - ENST00000374171.4 Splice_Site SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 SALL4 57167 broad.mit.edu 37 20 50407310 50407310 + Missense_Mutation SNP C C T TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr20:50407310C>T ENST00000395997.3 - 2.0 1217 SALL4_ENST00000217086.4_Missense_Mutation_p.C571Y|SALL4_ENST00000371539.3_Intron Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281) cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234) DNA binding (GO:0003677)|metal ion binding (GO:0046872) 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) 63.0 GACTCGGTGGCAAATGAGACA 0.547 0 130.0 111.0 117.0 20 50407310.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AK001666 CCDS13438.1 20q13.2 2014-09-17 2013-10-17 ENSG00000101115 ENSG00000101115 57167.0 57167.0 """Zinc fingers, C2H2-type""" 15924.0 protein-coding gene gene with protein product 607343 """sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)""" Standard NM_020436 Approved dJ1112F19.1, ZNF797 uc002xwh.4 Q9UJQ4 OTTHUMG00000032752 ENST00000395997.3:c.1150+561G>A 20.__UNKNOWN__:g.50407310C>T A2A2D8|Q540H3|Q6Y8G6 __UNKNOWN__ . . . . . . . . . . C 21.1 4.100425 0.76983 . . ENSG00000101115 ENST00000217086 T 0.57752 0.38 5.59 5.59 0.84812 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.49916 D 0.000133 T 0.78685 0.4322 M 0.88842 2.985 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 T 0.82402 -0.0475 10 0.87932 D 0 -20.1912 19.5703 0.95409 0.0:1.0:0.0:0.0 . 571 Q9UJQ4 SALL4_HUMAN Y 571 ENSP00000217086:C571Y ENSP00000217086:C571Y C - 2 0 SALL4 49840717 1.000000 0.71417 0.998000 0.56505 0.970000 0.65996 7.813000 0.86123 2.620000 0.88729 0.650000 0.86243 TGC SALL4-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000258918.2 - ENST00000395997.3 Intron SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 KBTBD8 84541 broad.mit.edu 37 3 67054375 67054375 + Silent SNP G G T TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr3:67054375G>T ENST00000417314.2 + 3.0 1033 c.984G>T c.(982-984)ggG>ggT p.G328G KBTBD8_ENST00000295568.4_Silent_p.G302G|KBTBD8_ENST00000460576.1_Intron Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 328.0 cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794) breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20.0 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) GAGAAGTTGGGATTCTTGTAT 0.433 0 141.0 135.0 137.0 3 67054375.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF385438 CCDS2906.1, CCDS2906.2 3p14 2013-01-08 ENSG00000163376 ENSG00000163376 84541.0 84541.0 """BTB/POZ domain containing""" 30691.0 protein-coding gene gene with protein product """T-cell activation kelch repeat protein""" 11347906 Standard NM_032505 NM_032505 Approved TA-KRP, KIAA1842 uc003dmy.3 Q8NFY9 OTTHUMG00000158779 ENST00000417314.2:c.984G>T 3.__UNKNOWN__:g.67054375G>T B4DTW6|Q96JI5 __UNKNOWN__ CCDS2906.2 KBTBD8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352189.1 + ENST00000417314.2 Silent SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 ROBO3 64221 broad.mit.edu 37 11 124739959 124739959 + Missense_Mutation SNP T T C TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr11:124739959T>C ENST00000397801.1 + 4.0 953 c.761T>C c.(760-762)gTa>gCa p.V254A ROBO3_ENST00000538940.1_Missense_Mutation_p.V232A NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 254.0 axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764) axon (GO:0030424)|integral component of membrane (GO:0016021) 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) 35.0 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) GAAGTCATGGTACTGGGTAGG 0.522 0 101.0 117.0 112.0 11 124739959.0 2049.0 4199.0 6248.0 SO:0001583 missense AK024697 CCDS44755.1 11q24 2013-02-11 2001-11-28 ENSG00000154134 ENSG00000154134 64221.0 64221.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 13433.0 protein-coding gene gene with protein product 608630 """roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis""" HGPPS 15105459 Standard XM_370663 NM_022370 Approved RBIG1, FLJ21044, HGPS uc001qbc.3 Q96MS0 OTTHUMG00000165934 ENST00000397801.1:c.761T>C 11.__UNKNOWN__:g.124739959T>C ENSP00000380903:p.Val254Ala __UNKNOWN__ CCDS44755.1 . . . . . . . . . . T 17.22 3.334680 0.60853 . . ENSG00000154134 ENST00000397801;ENST00000538940 T;T 0.62364 0.03;0.03 4.72 4.72 0.59763 Immunoglobulin-like fold (1); 0.000000 0.30639 U 0.009188 D 0.84534 0.5493 H 0.95079 3.62 0.80722 D 1 D 0.69078 0.997 D 0.83275 0.996 D 0.89281 0.3612 10 0.87932 D 0 . 14.1511 0.65384 0.0:0.0:0.0:1.0 . 254 Q96MS0 ROBO3_HUMAN A 254;232 ENSP00000380903:V254A;ENSP00000441797:V232A ENSP00000380903:V254A V + 2 0 ROBO3 124245169 1.000000 0.71417 0.459000 0.27081 0.126000 0.20510 7.902000 0.87389 1.895000 0.54865 0.379000 0.24179 GTA ROBO3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387091.1 + ENST00000397801.1 Missense_Mutation SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 EHD2 30846 broad.mit.edu 37 19 48239781 48239781 + Silent SNP G G A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr19:48239781G>A ENST00000263277.3 + 5.0 1322 c.1071G>A c.(1069-1071)caG>caA p.Q357Q EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Silent_p.Q221Q NM_014601.3 NP_055416.2 Q9NZN4 EHD2_HUMAN EH-domain containing 2 357.0 blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659) caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676) endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 19.0 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) CTGATTGCCAGAAAATGCAGG 0.532 0 76.0 72.0 73.0 19 48239781.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF181263 CCDS12704.1 19q13.3 2014-08-12 ENSG00000024422 ENSG00000024422 30846.0 30846.0 """EF-hand domain containing""" 3243.0 protein-coding gene gene with protein product 605890 PAST2 10673336 Standard NM_014601 Approved uc002phj.4 Q9NZN4 OTTHUMG00000183266 ENST00000263277.3:c.1071G>A 19.__UNKNOWN__:g.48239781G>A B2RDH9|B4DNU6|Q96CB6 __UNKNOWN__ CCDS12704.1 EHD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465851.1 + ENST00000263277.3 Silent SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 KIT 3815 broad.mit.edu 37 4 55575675 55575675 + Missense_Mutation SNP G G A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr4:55575675G>A ENST00000288135.5 + 7.0 1298 c.1201G>A c.(1201-1203)Gct>Act p.A401T 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 401.0 Ig-like C2-type 4. actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542) acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) 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) 6411.0 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)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268) TGACGTCAATGCTGCCATAGC 0.368 1.0 """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 yes Dom yes Familial gastrointestinal stromal tumour 4 4q12 3815.0 v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog yes """L, M, O, E""" 0 110.0 103.0 106.0 4 55575675.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT) S67773 CCDS3496.1, CCDS47058.1 4q12 2014-09-17 ENSG00000157404 ENSG00000157404 3815.0 3815.0 """CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 6342.0 protein-coding gene gene with protein product 164920 """piebald trait""" PBT 9027509 Standard NM_001093772 Approved CD117, SCFR, C-Kit uc010igr.3 P10721 OTTHUMG00000128713 ENST00000288135.5:c.1201G>A 4.__UNKNOWN__:g.55575675G>A ENSP00000288135:p.Ala401Thr B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99 __UNKNOWN__ CCDS3496.1 . . . . . . . . . . G 5.307 0.242044 0.10077 . . ENSG00000157404 ENST00000288135;ENST00000412167;ENST00000536403 T;T 0.56275 0.47;0.47 5.89 0.14 0.14804 Immunoglobulin subtype (1);Immunoglobulin-like fold (1); 0.445683 0.21355 N 0.075914 T 0.39279 0.1072 L 0.39898 1.24 0.26038 N 0.981645 B;B 0.11235 0.003;0.004 B;B 0.10450 0.005;0.004 T 0.29671 -1.0004 10 0.34782 T 0.22 . 10.0776 0.42370 0.0818:0.0:0.4179:0.5003 . 401;401 P10721-2;P10721 .;KIT_HUMAN T 401 ENSP00000288135:A401T;ENSP00000390987:A401T ENSP00000288135:A401T A + 1 0 KIT 55270432 0.807000 0.29009 0.296000 0.24974 0.009000 0.06853 0.954000 0.29175 0.229000 0.21039 -0.270000 0.10280 GCT KIT-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000250618.1 + ENST00000288135.5 Missense_Mutation SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 SYTL4 94121 broad.mit.edu 37 X 99945087 99945087 + Missense_Mutation SNP T T A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chrX:99945087T>A ENST00000372989.1 - 10.0 1124 c.793A>T c.(793-795)Atc>Ttc p.I265F SYTL4_ENST00000372981.1_Missense_Mutation_p.I265F|SYTL4_ENST00000263033.5_Missense_Mutation_p.I265F|SYTL4_ENST00000276141.6_Missense_Mutation_p.I265F|SYTL4_ENST00000455616.1_Missense_Mutation_p.I265F|SYTL4_ENST00000454200.2_Missense_Mutation_p.I266F NM_080737.2 NP_542775.2 Q96C24 SYTL4_HUMAN synaptotagmin-like 4 265.0 exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714) centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021) neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27.0 """""""Insulin(DB00071)|Insulin Regular(DB00030)""" GGCCTGAGGATTTTTCTGGTG 0.443 0 85.0 74.0 77.0 X 99945087.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS14472.1 Xq21.33 2008-07-31 2008-07-31 ENSG00000102362 ENSG00000102362 94121.0 94121.0 15588.0 protein-coding gene gene with protein product """granuphilin-a"", ""exophilin-2""" 300723 Standard NM_080737 NM_080737 Approved uc010nnc.3 Q96C24 OTTHUMG00000022004 ENST00000372989.1:c.793A>T X.__UNKNOWN__:g.99945087T>A ENSP00000362080:p.Ile265Phe Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1 __UNKNOWN__ CCDS14472.1 . . . . . . . . . . t 6.098 0.386359 0.11524 . . ENSG00000102362 ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981 T;T;T;T;T;T 0.64991 2.01;2.01;2.0;2.01;2.01;-0.13 5.7 1.65 0.23941 . 0.798927 0.12227 N 0.487785 T 0.46190 0.1380 L 0.40543 1.245 0.19300 N 0.999974 B;B 0.22909 0.077;0.001 B;B 0.15052 0.012;0.002 T 0.26538 -1.0100 9 . . . -6.0553 4.81 0.13339 0.0:0.4154:0.1704:0.4141 . 265;265 Q96C24-2;Q96C24 .;SYTL4_HUMAN F 265;265;266;265;265;265 ENSP00000362080:I265F;ENSP00000390252:I265F;ENSP00000403556:I266F;ENSP00000276141:I265F;ENSP00000263033:I265F;ENSP00000362072:I265F . I - 1 0 SYTL4 99831743 0.394000 0.25246 0.983000 0.44433 0.987000 0.75469 -0.131000 0.10482 0.299000 0.22661 0.478000 0.44815 ATC SYTL4-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000057488.1 - ENST00000372989.1 Missense_Mutation SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 LRRN2 10446 broad.mit.edu 37 1 204587794 204587794 + Silent SNP G G A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr1:204587794G>A ENST00000367175.1 - 1.0 3539 c.1327C>T c.(1327-1329)Ctg>Ttg p.L443L LRRN2_ENST00000367176.3_Silent_p.L443L|LRRN2_ENST00000367177.3_Silent_p.L443L O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 443.0 Ig-like C2-type. cell adhesion (GO:0007155)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) receptor activity (GO:0004872) 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) 38.0 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) CGGCAATGCAGCACCATGCTC 0.632 0 53.0 44.0 47.0 1 204587794.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF030435 CCDS1448.1 1q32.1 2013-01-11 2007-01-31 2007-01-31 ENSG00000170382 ENSG00000170382 10446.0 10446.0 """Immunoglobulin superfamily / I-set domain containing""" 16914.0 protein-coding gene gene with protein product """leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7""" 605492 """leucine rich repeat neuronal 5""" LRRN5 9662332 Standard NM_006338 NM_006338 Approved GAC1, LRANK1, FIGLER7 uc001hbf.1 O75325 OTTHUMG00000035989 ENST00000367175.1:c.1327C>T 1.__UNKNOWN__:g.204587794G>A B2R624|Q5T0Y0|Q6UXM0|Q8N182 __UNKNOWN__ CCDS1448.1 LRRN2-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000089894.1 - ENST00000367175.1 Silent SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 PANX3 116337 broad.mit.edu 37 11 124489205 124489205 + Silent SNP C C A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr11:124489205C>A ENST00000284288.2 + 4.0 620 c.553C>A c.(553-555)Cga>Aga p.R185R NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 185.0 cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085) gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) gap junction hemi-channel activity (GO:0055077) 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) 26.0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) TCGGAAAGAACGATACTTTGA 0.488 0 123.0 101.0 108.0 11 124489205.0 2201.0 4299.0 6500.0 SO:0001819 synonymous_variant AF406650 CCDS8447.1 11q24.2 2011-12-02 ENSG00000154143 ENSG00000154143 116337.0 116337.0 """Ion channels / Pannexins""" 20573.0 protein-coding gene gene with protein product 608422 Standard NM_052959 Approved Px3 uc001qah.3 Q96QZ0 OTTHUMG00000165925 ENST00000284288.2:c.553C>A 11.__UNKNOWN__:g.124489205C>A __UNKNOWN__ CCDS8447.1 PANX3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387064.1 + ENST00000284288.2 Silent SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 ARID3A 1820 broad.mit.edu 37 19 964334 964334 + Missense_Mutation SNP C C A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr19:964334C>A ENST00000263620.3 + 5.0 1180 c.853C>A c.(853-855)Ctc>Atc p.L285I NM_005224.2 NP_005215.1 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT-like) 285.0 ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}. cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634) chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10.0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAAGGGCGGCCTCGTGGAGGT 0.612 Pancreas(29;54 1022 32760 50921) 0 163.0 121.0 135.0 19 964334.0 2203.0 4299.0 6502.0 SO:0001583 missense U88047 CCDS12050.1 19p13.3 2013-02-07 2006-11-08 2004-01-30 ENSG00000116017 1820.0 1820.0 """-""" 3031.0 protein-coding gene gene with protein product 603265 """dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)""" DRIL1 9722953 Standard NM_005224 NM_005224 Approved BRIGHT uc002lql.3 Q99856 ENST00000263620.3:c.853C>A 19.__UNKNOWN__:g.964334C>A ENSP00000263620:p.Leu285Ile Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3 __UNKNOWN__ CCDS12050.1 . . . . . . . . . . C 21.0 4.076111 0.76415 . . ENSG00000116017 ENST00000263620 T 0.64438 -0.1 4.5 4.5 0.54988 ARID/BRIGHT DNA-binding domain (5); 0.072721 0.56097 D 0.000026 T 0.73544 0.3600 M 0.66939 2.045 0.80722 D 1 P 0.47302 0.893 D 0.65773 0.938 T 0.75428 -0.3321 10 0.72032 D 0.01 -1.5464 8.525 0.33300 0.0:0.8916:0.0:0.1084 . 285 Q99856 ARI3A_HUMAN I 285 ENSP00000263620:L285I ENSP00000263620:L285I L + 1 0 ARID3A 915334 0.998000 0.40836 1.000000 0.80357 0.981000 0.71138 3.727000 0.54984 2.061000 0.61500 0.561000 0.74099 CTC ARID3A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000458219.1 + ENST00000263620.3 Missense_Mutation SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 CSAG4 0 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chrX:151896589C>A ENST00000361201.4 - 0.0 351 NR_073432.1 CSAG family, member 4 (pseudogene) p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5.0 GGTTGTTGGACAATGGGCTGG 0.557 1 Substitution - Missense(1) kidney(1) BC013171 Xq28 2014-01-21 2012-04-19 ENSG00000242599 ENSG00000242599 100130935.0 100130935.0 20923.0 pseudogene pseudogene """CSAG family, member 4""" Standard NR_073432 Approved OTTHUMG00000022646 ENST00000361201.4: X.__UNKNOWN__:g.151896589C>A __UNKNOWN__ CSAG4-001 KNOWN basic processed_transcript pseudogene OTTHUMT00000058758.2 - ENST00000361201.4 RNA SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 TUBBP5 0 broad.mit.edu 37 9 141070173 141070173 + RNA SNP G G A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr9:141070173G>A ENST00000503395.1 + 0.0 1253 tubulin, beta pseudogene 5 GGTGAGCTGCGGGCGAGGACT 0.647 103.0 0.05 0.03 0.03 2184.0 0.06 0.9495 , , 0.0186 0.05 0.0626 0.6364 LOWCOV 0.0352 SNP 0 AF355123 9q34.3 2012-03-06 2005-11-15 ENSG00000159247 ENSG00000159247 643224.0 643224.0 23674.0 pseudogene pseudogene """tubulin, beta polypeptide pseudogene 5""" 11731935 Standard NR_027156 NR_027156 Approved uc010ncq.3 OTTHUMG00000021001 ENST00000503395.1: 9.__UNKNOWN__:g.141070173G>A __UNKNOWN__ TUBBP5-003 KNOWN basic processed_transcript pseudogene OTTHUMT00000373087.1 + ENST00000503395.1 RNA SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 FAF1 11124 broad.mit.edu 37 1 51121170 51121170 + Missense_Mutation SNP T T C TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr1:51121170T>C ENST00000396153.2 - 8.0 1139 c.688A>G c.(688-690)Atc>Gtc p.I230V FAF1_ENST00000371778.4_Missense_Mutation_p.I230V NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 230.0 apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859) CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625) p.0?(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24.0 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) CGAACGGGGATACTTGTAAGG 0.368 1 Whole gene deletion(1) thyroid(1) 125.0 118.0 121.0 1 51121170.0 2203.0 4300.0 6503.0 SO:0001583 missense AF132938 CCDS554.1 1p32.3 2012-09-20 ENSG00000185104 ENSG00000185104 11124.0 11124.0 """UBX domain containing""" 3578.0 protein-coding gene gene with protein product """TNFRSF6-associated factor 1"", ""UBX domain protein 3A""" 604460 10462485 Standard NM_007051 NM_007051 Approved CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A uc001cse.1 Q9UNN5 OTTHUMG00000007930 ENST00000396153.2:c.688A>G 1.__UNKNOWN__:g.51121170T>C ENSP00000379457:p.Ile230Val Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3 __UNKNOWN__ CCDS554.1 . . . . . . . . . . T 21.2 4.119323 0.77323 . . ENSG00000185104 ENST00000396153;ENST00000371778 T;T 0.28895 1.59;1.59 6.17 6.17 0.99709 . 0.000000 0.85682 D 0.000000 T 0.51363 0.1670 L 0.55481 1.735 0.80722 D 1 D 0.64830 0.994 D 0.72625 0.978 T 0.39820 -0.9595 10 0.37606 T 0.19 -11.8054 16.8222 0.85835 0.0:0.0:0.0:1.0 . 230 Q9UNN5 FAF1_HUMAN V 230 ENSP00000379457:I230V;ENSP00000360843:I230V ENSP00000360843:I230V I - 1 0 FAF1 50893758 1.000000 0.71417 1.000000 0.80357 0.883000 0.51084 6.615000 0.74201 2.371000 0.80710 0.533000 0.62120 ATC FAF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000021807.1 - ENST00000396153.2 Missense_Mutation SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 RBM17 84991 broad.mit.edu 37 10 6154185 6154185 + Silent SNP G G A rs148263630 byFrequency TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr10:6154185G>A ENST00000446108.1 + 8.0 1361 c.717G>A c.(715-717)gcG>gcA p.A239A RBM17_ENST00000379888.4_Silent_p.A239A NM_001145547.1 NP_001139019.1 Q96I25 SPF45_HUMAN RNA binding motif protein 17 239.0 G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}. alternative mRNA splicing, via spliceosome (GO:0000380) cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681) nucleotide binding (GO:0000166)|RNA binding (GO:0003723) NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 19.0 GCACGGTGGCGCACAAGATCA 0.557 G 1.0 0.0005 2184.0 1.0 , , 0.0003 0.0013 0.0005 0.9547 EXOME 0.0002 SNP 0 G , 1,4405 2.1+/-5.4 0,1,2202 61.0 57.0 58.0 717,717 -10.8 0.7 10 dbSNP_134 58.0 17,8583 11.9+/-42.8 1,15,4284 no coding-synonymous,coding-synonymous RBM17 NM_001145547.1,NM_032905.4 , 1,16,6486 AA,AG,GG 0.1977,0.0227,0.1384 , 239/402,239/402 6154185.0 18,12988 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF083384 CCDS7077.1 10p15.1 2013-01-28 ENSG00000134453 ENSG00000134453 84991.0 84991.0 """RNA binding motif (RRM) containing"", ""G patch domain containing""" 16944.0 protein-coding gene gene with protein product """splicing factor 45kDa""" 606935 9731529 Standard NM_032905 NM_032905 Approved SPF45, MGC14439 uc001ijb.3 Q96I25 OTTHUMG00000017618 ENST00000446108.1:c.717G>A 10.__UNKNOWN__:g.6154185G>A Q96GY6 __UNKNOWN__ CCDS7077.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 G 1.056 -0.674345 0.03378 2.27E-4 0.001977 ENSG00000134453 ENST00000447032 . . . 5.41 -10.8 0.00216 . . . . . T 0.30541 0.0768 . . . 0.80722 D 1 . . . . . . T 0.42224 -0.9464 4 . . . -21.2661 0.4896 0.00562 0.2071:0.2128:0.2105:0.3696 . . . . H 146 . . R + 2 0 RBM17 6194191 0.117000 0.22190 0.737000 0.30932 0.018000 0.09664 -0.492000 0.06467 -1.543000 0.01723 -0.253000 0.11424 CGC RBM17-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000046635.1 + ENST00000446108.1 Silent SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 PIF1 80119 broad.mit.edu 37 15 65108897 65108897 + Missense_Mutation SNP G G A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr15:65108897G>A ENST00000268043.4 - 12.0 1836 c.1742C>T c.(1741-1743)gCc>gTc p.A581V PIF1_ENST00000559239.1_Missense_Mutation_p.A581V|PIF1_ENST00000333425.6_Missense_Mutation_p.A581V PIF1 5'-to-3' DNA helicase kidney(1)|lung(1) 2.0 CCGAGAAAGGGCCACATAGGC 0.622 0 49.0 49.0 49.0 15 65108897.0 2202.0 4299.0 6501.0 SO:0001583 missense AK026345 CCDS10195.2, CCDS66797.1 15q22.1 2013-05-13 2013-05-13 2006-11-24 ENSG00000140451 ENSG00000140451 80119.0 80119.0 3.6.4.12 26220.0 protein-coding gene gene with protein product 610953 """chromosome 15 open reading frame 20"", ""PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)""" C15orf20 10926538, 16522649 Standard NM_025049 NM_025049 Approved FLJ22692 uc002ant.2 Q9H611 OTTHUMG00000132974 ENST00000268043.4:c.1742C>T 15.__UNKNOWN__:g.65108897G>A ENSP00000268043:p.Ala581Val __UNKNOWN__ CCDS10195.2 . . . . . . . . . . G 36 5.740822 0.96873 . . ENSG00000140451 ENST00000268043;ENST00000333425 T;T 0.38560 1.13;1.13 5.73 5.73 0.89815 . 0.000000 0.85682 D 0.000000 T 0.74275 0.3695 M 0.93462 3.42 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.80999 -0.1131 10 0.87932 D 0 -23.7146 17.3974 0.87450 0.0:0.0:1.0:0.0 . 581 Q9H611 PIF1_HUMAN V 581 ENSP00000268043:A581V;ENSP00000328174:A581V ENSP00000268043:A581V A - 2 0 PIF1 62895950 1.000000 0.71417 1.000000 0.80357 0.967000 0.64934 9.797000 0.99108 2.706000 0.92434 0.655000 0.94253 GCC PIF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256533.1 - ENST00000268043.4 Missense_Mutation SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 CSDE1 7812 broad.mit.edu 37 1 115272911 115272912 + Frame_Shift_Ins INS - - C TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr1:115272911_115272912insC ENST00000530886.1 - 10.0 1520_1521 c.933_934insG c.(931-936)cctaaafs p.K312fs CSDE1_ENST00000369530.1_Frame_Shift_Ins_p.K457fs|CSDE1_ENST00000358528.4_Frame_Shift_Ins_p.K442fs|CSDE1_ENST00000261443.5_Frame_Shift_Ins_p.K411fs|CSDE1_ENST00000534699.1_Frame_Shift_Ins_p.K442fs|CSDE1_ENST00000438362.2_Frame_Shift_Ins_p.K488fs|CSDE1_ENST00000339438.6_Frame_Shift_Ins_p.K411fs O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding 442.0 CSD 4; truncated. male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355) CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51.0 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CTAGTGGTTTTAGGATTGGAAA 0.381 0 SO:0001589 frameshift_variant CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1 1p13.2 2011-11-02 ENSG00000009307 ENSG00000009307 7812.0 7812.0 29905.0 protein-coding gene gene with protein product """upstream of NRAS""" 191510 2204029, 10048485 Standard NM_007158 NM_007158 Approved D1S155E, UNR uc001efi.3 O75534 OTTHUMG00000012060 ENST00000530886.1:c.933_934insG 1.__UNKNOWN__:g.115272911_115272912insC ENSP00000431297:p.Lys312fs A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4 __UNKNOWN__ CSDE1-007 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000392607.1 - ENST00000530886.1 Frame_Shift_Ins INS PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 SPON1 10418 bcgsc.ca 37 11 14284259 14284259 + RNA SNP C C A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr11:14284259C>A ENST00000310358.7 + 0.0 2533 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion (GO:0007155) extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21.0 Epithelial(150;0.00898) TCTTGCCAGCCATTGACTGTG 0.498 0 64.0 65.0 65.0 11 14284259.0 2084.0 4207.0 6291.0 AB018305 CCDS73262.1 11p15.2 2014-05-06 2004-03-05 ENSG00000152268 ENSG00000262655 10418.0 10418.0 11252.0 protein-coding gene gene with protein product 604989 """spondin 1, (f-spondin) extracellular matrix protein""" 9872452 Standard NM_145584 NM_006108 Approved KIAA0762, f-spondin uc001mle.3 Q9HCB6 OTTHUMG00000181576 ENST00000310358.7: 11.__UNKNOWN__:g.14284259C>A A8K6W5|O94862|Q8NCD7|Q8WUR5 __UNKNOWN__ SPON1-201 KNOWN basic processed_transcript processed_transcript + ENST00000310358.7 RNA SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 SMAD3 4088 ucsc.edu 37 15 67473718 67473718 + Silent SNP G G A TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr15:67473718G>A ENST00000439724.3 + 6.0 692 c.666G>A c.(664-666)tcG>tcA p.S222S SMAD3_ENST00000537194.2_Silent_p.S71S|SMAD3_ENST00000327367.4_Silent_p.S266S|SMAD3_ENST00000540846.2_Silent_p.S161S NM_001145103.1 NP_001138575.1 P84022 SMAD3_HUMAN SMAD family member 3 266.0 Linker. activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667) beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31.0 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) CCTCCAATTCGGAGCGCTTCT 0.607 0 65.0 61.0 63.0 15 67473718.0 2201.0 4299.0 6500.0 SO:0001819 synonymous_variant BC050743 CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1 15q21-q22 2006-11-06 2006-11-06 2004-05-26 ENSG00000166949 ENSG00000166949 4088.0 4088.0 """SMADs""" 6769.0 protein-coding gene gene with protein product 603109 """MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)""" MADH3 8774881, 8673135 Standard NM_005902 NM_001145102 Approved JV15-2, HsT17436 uc002aqj.3 P84022 OTTHUMG00000133230 ENST00000439724.3:c.666G>A 15.__UNKNOWN__:g.67473718G>A A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4 __UNKNOWN__ CCDS45288.1 SMAD3-003 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000417462.1 + ENST00000439724.3 Silent SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 SORT1 6272 ucsc.edu 37 1 109912178 109912178 + Missense_Mutation SNP A A T TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr1:109912178A>T ENST00000256637.6 - 2.0 398 c.340T>A c.(340-342)Ttg>Atg p.L114M SORT1_ENST00000482236.1_5'UTR|SORT1_ENST00000538502.1_De_novo_Start_InFrame NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 114.0 endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050) cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140) enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26.0 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) ACCCAGGACAAGGATACTGAG 0.403 0 86.0 78.0 80.0 1 109912178.0 2203.0 4300.0 6503.0 SO:0001583 missense BC023542 CCDS798.1, CCDS55618.1 1p13.3 2008-05-14 ENSG00000134243 ENSG00000134243 6272.0 6272.0 11186.0 protein-coding gene gene with protein product 602458 Standard NM_002959 NM_002959 Approved Gp95, NT3 uc001dxm.2 Q99523 OTTHUMG00000011999 ENST00000256637.6:c.340T>A 1.__UNKNOWN__:g.109912178A>T ENSP00000256637:p.Leu114Met B4DWI3|C0JYZ0|Q8IZ49 __UNKNOWN__ CCDS798.1 . . . . . . . . . . A 19.94 3.919990 0.73098 . . ENSG00000134243 ENST00000256637 T 0.32023 1.47 5.65 3.34 0.38264 . 0.000000 0.64402 D 0.000001 T 0.25717 0.0626 L 0.52364 1.645 0.80722 D 1 D 0.62365 0.991 P 0.58721 0.844 T 0.09015 -1.0694 10 0.66056 D 0.02 -11.4452 4.9368 0.13944 0.7259:0.0:0.2741:0.0 . 114 Q99523 SORT_HUMAN M 114 ENSP00000256637:L114M ENSP00000256637:L114M L - 1 2 SORT1 109713701 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 2.718000 0.47236 0.988000 0.38734 0.383000 0.25322 TTG SORT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033179.1 - ENST00000256637.6 Missense_Mutation SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 ALDH1A1 216 hgsc.bcm.edu 37 9 75545857 75545857 + Missense_Mutation SNP C C T TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 C C . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq befe16ec-3f43-439f-83f8-026df4c06e29 da047bf6-64c5-4fbd-aa9e-7f963c8ee970 g.chr9:75545857C>T ENST00000297785.3 - 3.0 304 c.250G>A c.(250-252)Gag>Aag p.E84K ALDH1A1_ENST00000376939.1_Missense_Mutation_p.E84K|ALDH1A1_ENST00000482210.1_5'UTR NM_000689.4 NP_000680.2 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1 family, member A1 84.0 cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17.0 Tretinoin(DB00755)|Vitamin A(DB00162) CGCCCCCTCTCGGAAGCATCC 0.493 0 92.0 92.0 92.0 9 75545857.0 2203.0 4300.0 6503.0 SO:0001583 missense K03000 CCDS6644.1 9q21.13 2010-08-05 ENSG00000165092 ENSG00000165092 216.0 216.0 1.2.1.36, 1.2.1.3 """Aldehyde dehydrogenases""" 402.0 protein-coding gene gene with protein product """retinaldehyde dehydrogenase 1""" 100640 PUMB1, ALDH1 1709013 Standard NM_000689 Approved RALDH1 uc004ajd.3 P00352 OTTHUMG00000020019 ENST00000297785.3:c.250G>A 9.__UNKNOWN__:g.75545857C>T ENSP00000297785:p.Glu84Lys O00768|Q5SYR1 __UNKNOWN__ CCDS6644.1 . . . . . . . . . . C 17.02 3.282525 0.59867 . . ENSG00000165092 ENST00000297785;ENST00000376939;ENST00000428593;ENST00000419959;ENST00000446946 T;T;T;T 0.78364 -1.17;-1.17;-1.17;-1.17 5.46 4.56 0.56223 Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1); 0.000000 0.64402 D 0.000001 T 0.78553 0.4301 L 0.52206 1.635 0.50467 D 0.999871 P 0.51791 0.948 P 0.50352 0.638 T 0.77892 -0.2418 10 0.39692 T 0.17 . 14.2143 0.65783 0.0:0.9284:0.0:0.0716 . 84 P00352 AL1A1_HUMAN K 84;84;98;84;84 ENSP00000297785:E84K;ENSP00000366138:E84K;ENSP00000388026:E84K;ENSP00000401361:E84K ENSP00000297785:E84K E - 1 0 ALDH1A1 74735677 1.000000 0.71417 0.811000 0.32455 0.786000 0.44442 5.719000 0.68462 1.309000 0.44985 0.650000 0.86243 GAG ALDH1A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052679.1 - ENST00000297785.3 Missense_Mutation SNP PCPG-TCGA-WB-A81M-Normal-SM-5EMN7 CCT2 10576 broad.mit.edu 37 12 69981763 69981763 + Missense_Mutation SNP G G A TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr12:69981763G>A ENST00000299300.6 + 5.0 498 c.310G>A c.(310-312)Gtt>Att p.V104I CCT2_ENST00000544368.2_Missense_Mutation_p.V104I|CCT2_ENST00000543146.2_Missense_Mutation_p.V57I NM_006431.2 NP_006422.1 P78371 TCPB_HUMAN chaperonin containing TCP1, subunit 2 (beta) 104.0 'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457) cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199) ATP binding (GO:0005524)|unfolded protein binding (GO:0051082) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1) 24.0 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) CTCTGTTACCGTTTTAGCAGC 0.358 0 122.0 125.0 124.0 12 69981763.0 2203.0 4300.0 6503.0 SO:0001583 missense AF026293 CCDS8991.1, CCDS55843.1 12q14 2011-09-02 10576.0 10576.0 """Heat Shock Proteins / Chaperonins""" 1615.0 protein-coding gene gene with protein product 605139 9819444 Standard NM_006431 NM_001198842 Approved Cctb uc001svb.1 P78371 OTTHUMG00000169383 ENST00000299300.6:c.310G>A 12.__UNKNOWN__:g.69981763G>A ENSP00000299300:p.Val104Ile A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3 __UNKNOWN__ CCDS8991.1 . . . . . . . . . . G 18.56 3.650704 0.67472 . . ENSG00000166226 ENST00000299300;ENST00000544368;ENST00000543146 T;T;T 0.77489 -1.1;-1.1;-1.1 5.66 5.66 0.87406 . 0.000000 0.85682 D 0.000000 D 0.84538 0.5494 L 0.52206 1.635 0.80722 D 1 D;D 0.89917 0.974;1.0 P;D 0.91635 0.828;0.999 T 0.83263 -0.0047 9 . . . -19.312 15.2491 0.73529 0.0:0.1399:0.8601:0.0 . 104;104 F5GWF6;P78371 .;TCPB_HUMAN I 104;104;57 ENSP00000299300:V104I;ENSP00000441847:V104I;ENSP00000445471:V57I . V + 1 0 CCT2 68268030 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 7.650000 0.83521 2.665000 0.90641 0.650000 0.86243 GTT CCT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403818.1 + ENST00000299300.6 Missense_Mutation SNP PCPG-TCGA-WB-A81N-Normal-SM-5EMMM RFNG 5986 broad.mit.edu 37 17 80007802 80007802 + Silent SNP T T C TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr17:80007802T>C ENST00000310496.4 - 5.0 661 c.654A>G c.(652-654)ccA>ccG p.P218P RFNG_ENST00000584838.1_5'UTR|RFNG_ENST00000429557.3_Silent_p.P92P NM_002917.1 NP_002908.1 Q9Y644 RFNG_HUMAN RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 218.0 cell differentiation (GO:0030154)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173) metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3.0 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) ACCTGGCCCATGGGCTCATCT 0.652 0 30.0 31.0 31.0 17 80007802.0 2198.0 4299.0 6497.0 SO:0001819 synonymous_variant BC069034 CCDS32773.1 17q25.3 2013-02-19 2006-11-13 ENSG00000169733 ENSG00000169733 5986.0 5986.0 2.4.1.222 """Beta 3-glycosyltransferases""" 9974.0 protein-coding gene gene with protein product 602578 """radical fringe (Drosophila) homolog"", ""radical fringe homolog (Drosophila)""" 9187150 Standard NM_002917 NM_002917 Approved uc002kdj.3 Q9Y644 OTTHUMG00000178512 ENST00000310496.4:c.654A>G 17.__UNKNOWN__:g.80007802T>C O00588 __UNKNOWN__ CCDS32773.1 RFNG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000442263.1 - ENST00000310496.4 Silent SNP PCPG-TCGA-WB-A81N-Normal-SM-5EMMM TKTL1 8277 broad.mit.edu 37 X 153557888 153557888 + Silent SNP C C T TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chrX:153557888C>T ENST00000369915.3 + 13.0 1830 c.1641C>T c.(1639-1641)tgC>tgT p.C547C TKTL1_ENST00000217905.7_Silent_p.C287C|TKTL1_ENST00000369912.2_Silent_p.C491C NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 547.0 glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772) cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872)|transketolase activity (GO:0004802) NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34.0 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AAGCTGTCTGCGCAGCCGTCT 0.542 0 124.0 114.0 118.0 X 153557888.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X91817 CCDS35448.1, CCDS55541.1 Xq28 2008-02-05 ENSG00000007350 ENSG00000007350 8277.0 8277.0 11835.0 protein-coding gene gene with protein product 300044 8838793 Standard NM_012253 NM_012253 Approved TKR, TKT2 uc004fkg.3 P51854 OTTHUMG00000022707 ENST00000369915.3:c.1641C>T X.__UNKNOWN__:g.153557888C>T A8K896|Q5TYJ8|Q5TYJ9|Q8TC75 __UNKNOWN__ CCDS35448.1 TKTL1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058923.1 + ENST00000369915.3 Silent SNP PCPG-TCGA-WB-A81N-Normal-SM-5EMMM SPATA31C1 0 broad.mit.edu 37 9 90535520 90535520 + RNA SNP C C T TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr9:90535520C>T ENST00000602681.1 + 0.0 1424 P0DKV0 S31C1_HUMAN SPATA31 subfamily C, member 1 cell differentiation (GO:0030154)|spermatogenesis (GO:0007283) integral component of membrane (GO:0016021) CCACCTCCTCCGAAAGGCTTC 0.592 0 85.0 70.0 74.0 9 90535520.0 692.0 1591.0 2283.0 AK093374 9q22.1 2014-03-18 2012-10-12 2012-10-12 ENSG00000230246 ENSG00000230246 441452.0 441452.0 27846.0 other unknown """family with sequence similarity 75, member C1""" FAM75C1 Standard NM_001145124 NM_001145124 Approved FLJ36055 uc010mqi.3 P0DKV0 OTTHUMG00000020160 ENST00000602681.1: 9.__UNKNOWN__:g.90535520C>T __UNKNOWN__ SPATA31C1-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000467313.1 + ENST00000602681.1 RNA SNP PCPG-TCGA-WB-A81N-Normal-SM-5EMMM CSF2RA 0 broad.mit.edu 37 X 1407669 1407669 + Missense_Mutation SNP G G T TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chrX:1407669G>T ENST00000381524.3 + 6.0 547 c.361G>T c.(361-363)Gct>Tct p.A121S CSF2RA_ENST00000417535.2_Missense_Mutation_p.A121S|CSF2RA_ENST00000432318.2_Missense_Mutation_p.A121S|CSF2RA_ENST00000381529.3_Missense_Mutation_p.A121S|CSF2RA_ENST00000381509.3_Missense_Mutation_p.A121S|CSF2RA_ENST00000355805.2_Missense_Mutation_p.A121S|CSF2RA_ENST00000361536.3_Missense_Mutation_p.A121S|CSF2RA_ENST00000355432.3_Missense_Mutation_p.A121S|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381500.1_Missense_Mutation_p.A121S P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 121.0 response to ethanol (GO:0045471) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872) central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45.0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GGGTACCGCTGCTCAGAATTT 0.507 Esophageal Squamous(131;723 1707 25334 40494 41806) 0 184.0 194.0 190.0 X 1407669.0 2203.0 4296.0 6499.0 SO:0001583 missense M64445 CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1 Xp22.32 and Yp11.3 2014-09-17 ENSG00000198223 ENSG00000198223 1438.0 """CD molecules"", ""Pseudoautosomal regions / PAR1""" 2435.0 protein-coding gene gene with protein product 306250, 425000 CSF2R 1702217 Standard NM_006140 Approved CD116 uc010ncv.2 P15509 OTTHUMG00000012533 ENST00000381524.3:c.361G>T X.__UNKNOWN__:g.1407669G>T ENSP00000370935:p.Ala121Ser A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564 __UNKNOWN__ CCDS35191.1 . . . . . . . . . . . 13.21 2.168341 0.38315 . . ENSG00000198223 ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500 T;T;T;T;T;T;T;T;T;T;T 0.57273 0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41 2.19 2.19 0.27852 Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1); 0.316889 0.20285 U 0.095376 T 0.65913 0.2737 . . . 0.09310 N 1 D;D;D;D;D;D 0.89917 1.0;0.998;0.99;0.994;0.998;0.999 D;D;P;D;D;D 0.76575 0.988;0.975;0.882;0.916;0.937;0.984 T 0.52555 -0.8560 9 0.66056 D 0.02 . 7.5519 0.27802 0.0:0.0:1.0:0.0 . 121;121;121;121;121;121 P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509 .;.;.;.;.;CSF2R_HUMAN S 121 ENSP00000370940:A121S;ENSP00000416437:A121S;ENSP00000354836:A121S;ENSP00000370935:A121S;ENSP00000410667:A121S;ENSP00000397452:A121S;ENSP00000370920:A121S;ENSP00000348058:A121S;ENSP00000347606:A121S;ENSP00000394227:A121S;ENSP00000370911:A121S ENSP00000347606:A121S A + 1 0 CSF2RA 1367669 0.119000 0.22226 0.003000 0.11579 0.008000 0.06430 1.962000 0.40442 1.164000 0.42652 0.280000 0.19369 GCT CSF2RA-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000035013.2 + ENST00000381524.3 Missense_Mutation SNP PCPG-TCGA-WB-A81N-Normal-SM-5EMMM SMYD4 114826 broad.mit.edu 37 17 1686379 1686379 + Silent SNP A A G TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr17:1686379A>G ENST00000305513.7 - 10.0 2378 c.2211T>C c.(2209-2211)agT>agC p.S737S NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 737.0 metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168) breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21.0 CCATTTCAACACTGGACGGCC 0.517 0 75.0 79.0 77.0 17 1686379.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB067523 CCDS11013.1 17p13.3 2004-04-21 ENSG00000186532 ENSG00000186532 114826.0 114826.0 """Zinc fingers, MYND-type""" 21067.0 protein-coding gene gene with protein product 11572484 Standard XM_056082 NM_052928 Approved KIAA1936, ZMYND21 uc002ftm.4 Q8IYR2 OTTHUMG00000090570 ENST00000305513.7:c.2211T>C 17.__UNKNOWN__:g.1686379A>G Q8N1P2|Q8NAT0|Q96LV4|Q96PV2 __UNKNOWN__ CCDS11013.1 SMYD4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207108.4 - ENST00000305513.7 Silent SNP PCPG-TCGA-WB-A81N-Normal-SM-5EMMM SLFN11 91607 broad.mit.edu 37 17 33690016 33690016 + Frame_Shift_Del DEL T T - TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr17:33690016delT ENST00000394566.1 - 4.0 1083 c.811delA c.(811-813)agafs p.R272fs SLFN11_ENST00000308377.4_Frame_Shift_Del_p.R272fs 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 11 272.0 defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|tRNA binding (GO:0000049) autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50.0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ATTTTCCTTCTCAAAGAGTCA 0.398 0 174.0 176.0 175.0 17 33690016.0 2203.0 4300.0 6503.0 SO:0001589 frameshift_variant AK074184 CCDS11294.1 17q12 2006-04-05 ENSG00000172716 ENSG00000172716 91607.0 91607.0 26633.0 protein-coding gene gene with protein product 614953 12477932 Standard NM_152270 NM_001104587 Approved FLJ34922 uc010ctr.3 Q7Z7L1 OTTHUMG00000132948 ENST00000394566.1:c.811delA 17.__UNKNOWN__:g.33690016delT ENSP00000378067:p.Arg272fs E1P643|Q8N3S8|Q8N762|Q8TEE0 __UNKNOWN__ CCDS11294.1 SLFN11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256480.1 - ENST00000394566.1 Frame_Shift_Del DEL PCPG-TCGA-WB-A81N-Normal-SM-5EMMM Unknown 0 bcgsc.ca 37 2 52798436 52798436 + RNA SNP G G A TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr2:52798436G>A AC139712.4 (70546 upstream) : MIR4431 (131223 downstream) CTTCCCGTCCGCCGACCAGGA 0.562 0 SO:0001628 intergenic_variant 2.__UNKNOWN__:g.52798436G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-WB-A81N-Normal-SM-5EMMM HSD17B13 345275 ucsc.edu 37 4 88226389 88226389 + Missense_Mutation SNP T T A TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr4:88226389T>A ENST00000328546.4 - 7.0 948 c.884A>T c.(883-885)cAc>cTc p.H295L HSD17B13_ENST00000302219.6_Missense_Mutation_p.H259L NM_178135.3 NP_835236.2 Q7Z5P4 DHB13_HUMAN hydroxysteroid (17-beta) dehydrogenase 13 295.0 extracellular region (GO:0005576) oxidoreductase activity (GO:0016491) endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 8.0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.000308) TTTGATTTTGTGGCCAACCAC 0.333 0 85.0 78.0 80.0 4 88226389.0 2202.0 4300.0 6502.0 SO:0001583 missense CCDS3618.1, CCDS47097.1 4q22.1 2011-09-20 ENSG00000170509 ENSG00000170509 345275.0 345275.0 1.1.-.- """Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3""" 18685.0 protein-coding gene gene with protein product """short chain dehydrogenase/reductase family 16C, member 3""" 612127 19027726 Standard NM_178135 NM_178135 Approved SCDR9, SDR16C3 uc003hqo.2 Q7Z5P4 OTTHUMG00000130602 ENST00000328546.4:c.884A>T 4.__UNKNOWN__:g.88226389T>A ENSP00000333300:p.His295Leu A8K9R9|Q2M1L5|Q86W22|Q86W23 __UNKNOWN__ CCDS3618.1 . . . . . . . . . . T 5.367 0.253048 0.10185 . . ENSG00000170509 ENST00000302219;ENST00000328546 D;D 0.89415 -2.51;-1.8 4.53 3.27 0.37495 . 0.445449 0.20338 N 0.094296 T 0.78622 0.4312 L 0.29908 0.895 0.26374 N 0.976841 B;B 0.28470 0.213;0.126 B;B 0.29862 0.108;0.035 T 0.63247 -0.6680 10 0.23302 T 0.38 . 3.7987 0.08750 0.1882:0.101:0.0:0.7108 . 259;295 Q7Z5P4-2;Q7Z5P4 .;DHB13_HUMAN L 259;295 ENSP00000305438:H259L;ENSP00000333300:H295L ENSP00000305438:H259L H - 2 0 HSD17B13 88445413 0.993000 0.37304 0.998000 0.56505 0.031000 0.12232 1.837000 0.39201 1.886000 0.54624 0.533000 0.62120 CAC HSD17B13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253052.1 - ENST00000328546.4 Missense_Mutation SNP PCPG-TCGA-WB-A81N-Normal-SM-5EMMM RALB 5899 ucsc.edu 37 2 121050730 121050730 + Missense_Mutation SNP T T A TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr2:121050730T>A ENST00000272519.5 + 5.0 785 c.515T>A c.(514-516)cTa>cAa p.L172Q RALB_ENST00000420510.1_Missense_Mutation_p.L172Q|RALB_ENST00000474855.2_Missense_Mutation_p.L194Q|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000404963.3_Missense_Mutation_p.L193Q NM_002881.2 NP_002872.1 P11234 RALB_HUMAN v-ral simian leukemia viral oncogene homolog B 172.0 apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165) extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|GTPase activity (GO:0003924) endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15.0 Prostate(154;0.122) TTCTTTGACCTAATGAGAGAA 0.343 0 69.0 68.0 68.0 2 121050730.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS2131.1 2q14.2 2014-05-09 2013-07-09 ENSG00000144118 ENSG00000144118 5899.0 5899.0 9840.0 protein-coding gene gene with protein product """ras related GTP binding protein B""" 179551 Standard NM_002881 NM_002881 Approved uc002tmk.3 P11234 OTTHUMG00000131435 ENST00000272519.5:c.515T>A 2.__UNKNOWN__:g.121050730T>A ENSP00000272519:p.Leu172Gln B4E040|Q53T32|Q6ZS74 __UNKNOWN__ CCDS2131.1 . . . . . . . . . . T 27.9 4.869515 0.91587 . . ENSG00000144118 ENST00000474855;ENST00000272519;ENST00000420510;ENST00000404963 D;D;D;D 0.84442 -1.85;-1.85;-1.85;-1.85 5.95 5.95 0.96441 . 0.083637 0.49916 D 0.000134 D 0.95551 0.8554 H 0.97962 4.115 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.87578 0.998;0.998;0.997 D 0.97222 0.9878 10 0.87932 D 0 . 16.4237 0.83790 0.0:0.0:0.0:1.0 . 194;193;172 B4E040;Q6ZS74;P11234 .;.;RALB_HUMAN Q 194;172;172;193 ENSP00000438764:L194Q;ENSP00000272519:L172Q;ENSP00000414224:L172Q;ENSP00000384328:L193Q ENSP00000272519:L172Q L + 2 0 RALB 120767200 1.000000 0.71417 0.980000 0.43619 0.960000 0.62799 7.867000 0.87062 2.279000 0.76181 0.533000 0.62120 CTA RALB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254232.3 + ENST00000272519.5 Missense_Mutation SNP PCPG-TCGA-WB-A81N-Normal-SM-5EMMM TCOF1 6949 ucsc.edu 37 5 149749124 149749124 + Missense_Mutation SNP A A G TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr5:149749124A>G ENST00000439160.2 + 6.0 631 c.598A>G c.(598-600)Agc>Ggc p.S200G TCOF1_ENST00000513346.1_Missense_Mutation_p.S200G|TCOF1_ENST00000323668.7_Missense_Mutation_p.S200G|TCOF1_ENST00000377797.3_Missense_Mutation_p.S200G|TCOF1_ENST00000445265.2_Missense_Mutation_p.S200G|TCOF1_ENST00000504761.2_Missense_Mutation_p.S200G|TCOF1_ENST00000451292.1_Missense_Mutation_p.S200G|TCOF1_ENST00000394269.3_Missense_Mutation_p.S200G NM_001135244.1|NM_001195141.1 NP_001128716.1|NP_001182070.1 Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 200.0 skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35.0 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGACAGCTCCAGCGAGGACAC 0.632 0 87.0 77.0 81.0 5 149749124.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1 5q32 2014-06-18 ENSG00000070814 ENSG00000070814 6949.0 6949.0 11654.0 protein-coding gene gene with protein product 606847 1765376 Standard NM_001008656 NM_001008657 Approved treacle, TCS uc003lry.3 Q13428 OTTHUMG00000130081 ENST00000439160.2:c.598A>G 5.__UNKNOWN__:g.149749124A>G ENSP00000406888:p.Ser200Gly A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860 __UNKNOWN__ CCDS47305.1 . . . . . . . . . . A 18.73 3.685869 0.68157 . . ENSG00000070814 ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346 T;T;T;T;T;T;T;T;T 0.79554 -1.25;-1.28;-1.08;-1.08;-1.25;1.54;-1.26;-1.25;-1.25 4.05 4.05 0.47172 . 0.000000 0.47852 D 0.000216 D 0.86678 0.5990 M 0.65975 2.015 0.29489 N 0.855754 P;D;P;P;D;D 0.76494 0.952;0.999;0.952;0.92;0.999;0.999 P;D;P;P;D;D 0.83275 0.84;0.996;0.84;0.52;0.996;0.996 T 0.81656 -0.0834 10 0.72032 D 0.01 -9.7183 9.6925 0.40136 1.0:0.0:0.0:0.0 . 200;200;200;200;200;200 Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5 .;.;.;TCOF_HUMAN;.;. G 200 ENSP00000400939:S200G;ENSP00000367028:S200G;ENSP00000409944:S200G;ENSP00000325223:S200G;ENSP00000406888:S200G;ENSP00000377811:S200G;ENSP00000390717:S200G;ENSP00000421655:S200G;ENSP00000427484:S200G ENSP00000325223:S200G S + 1 0 TCOF1 149729317 1.000000 0.71417 1.000000 0.80357 0.892000 0.51952 3.612000 0.54142 2.063000 0.61619 0.379000 0.24179 AGC TCOF1-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000373674.2 + ENST00000439160.2 Missense_Mutation SNP PCPG-TCGA-WB-A81N-Normal-SM-5EMMM CTH 1491 broad.mit.edu 37 1 70904459 70904459 + Missense_Mutation SNP G G C TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr1:70904459G>C ENST00000370938.3 + 11.0 1285 c.1141G>C c.(1141-1143)Gag>Cag p.E381Q CTH_ENST00000411986.2_Missense_Mutation_p.E349Q|CTH_ENST00000346806.2_Missense_Mutation_p.E337Q NM_001902.5 NP_001893.2 Q96IQ7 VSIG2_HUMAN cystathionine gamma-lyase 0.0 integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18.0 TGTGGGCTTAGAGGATGAGGA 0.428 0 159.0 146.0 151.0 1 70904459.0 2203.0 4300.0 6503.0 SO:0001583 missense BC015807 CCDS650.1, CCDS651.1, CCDS53333.1 1p31.1 2014-06-24 2014-06-24 ENSG00000116761 ENSG00000116761 1491.0 1491.0 4.4.1.1 2501.0 protein-coding gene gene with protein product 607657 """cystathionase (cystathionine gamma-lyase)""" 1339280 Standard NM_001902 NM_001902 Approved uc001dfd.3 P32929 OTTHUMG00000009352 ENST00000370938.3:c.1141G>C 1.__UNKNOWN__:g.70904459G>C ENSP00000359976:p.Glu381Gln O95791|Q9NX42 __UNKNOWN__ CCDS650.1 . . . . . . . . . . G 32 5.124097 0.94429 . . ENSG00000116761 ENST00000411986;ENST00000370938;ENST00000346806 D;D;D 0.93488 -3.23;-3.23;-3.23 5.6 5.6 0.85130 Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1); 0.000000 0.85682 D 0.000000 D 0.98353 0.9453 H 0.98446 4.235 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 D 0.99232 1.0882 10 0.87932 D 0 -6.8923 19.665 0.95890 0.0:0.0:1.0:0.0 . 349;337;381 E9PDV0;P32929-2;P32929 .;.;CGL_HUMAN Q 349;381;337 ENSP00000413407:E349Q;ENSP00000359976:E381Q;ENSP00000311554:E337Q ENSP00000311554:E337Q E + 1 0 CTH 70677047 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 9.192000 0.94947 2.828000 0.97474 0.650000 0.86243 GAG CTH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000025918.1 + ENST00000370938.3 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH MMAB 326625 broad.mit.edu 37 12 110009465 110009465 + Translation_Start_Site SNP G G A rs115802744 byFrequency TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr12:110009465G>A ENST00000545712.2 - 2.0 578 c.185C>T c.(184-186)aCg>aTg p.T62M MMAB_ENST00000266839.5_De_novo_Start_OutOfFrame|MMAB_ENST00000540016.1_Intron NM_052845.3 NP_443077.1 Q96EY8 MMAB_HUMAN methylmalonic aciduria (cobalamin deficiency) cblB type 62.0 cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) mitochondrial matrix (GO:0005759) ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817) cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6.0 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTTGTCTCCCGTTTTGGTGTA 0.438 G 17.0 0.01 0.03 2184.0 1.0 , , 0.0003 0.0078 0.9975 LOWCOV,EXOME 0.0006 SNP 0 G MET/THR 93,4313 75.7+/-113.9 0,93,2110 167.0 143.0 151.0 185 4.4 1.0 12 dbSNP_132 151.0 1,8599 1.2+/-3.3 0,1,4299 yes missense MMAB NM_052845.3 81 0,94,6409 AA,AG,GG 0.0116,2.1108,0.7227 probably-damaging 62/251 110009465.0 94,12912 2203.0 4300.0 6503.0 SO:0001583 missense AF550404 CCDS9131.1 12q24 2014-07-18 2005-07-11 ENSG00000139428 ENSG00000139428 326625.0 326625.0 19331.0 protein-coding gene gene with protein product """ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23""" 607568 """methylmalonic aciduria (cobalamin deficiency) type B""" 12471062, 12514191 Standard NM_052845 Approved cblB, CFAP23 uc001tou.3 Q96EY8 OTTHUMG00000169255 ENST00000545712.2:c.185C>T 12.__UNKNOWN__:g.110009465G>A ENSP00000445920:p.Thr62Met C5HU05|Q9BSH0 __UNKNOWN__ CCDS9131.1 17 0.007783882783882784 17 0.034552845528455285 0 0.0 0 0.0 0 0.0 G 20.2 3.958434 0.74016 0.021108 1.16E-4 ENSG00000139428 ENST00000545712;ENST00000542390 D 0.96200 -3.94 4.45 4.45 0.53987 Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (1);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (1);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type (1); 0.000000 0.64402 D 0.000001 D 0.96337 0.8805 H 0.98314 4.2 0.80722 D 1 D 0.89917 1.0 D 0.77557 0.99 D 0.92325 0.5869 9 . . . -13.4209 14.6209 0.68584 0.0:0.0:1.0:0.0 . 62 Q96EY8 MMAB_HUMAN M 62 ENSP00000445920:T62M . T - 2 0 MMAB 108493848 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 8.018000 0.88722 2.310000 0.77875 0.563000 0.77884 ACG MMAB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403128.2 - ENST00000545712.2 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH MARK4 57787 broad.mit.edu 37 19 45797661 45797661 + Missense_Mutation SNP C C T TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr19:45797661C>T ENST00000262891.4 + 14.0 1880 c.1549C>T c.(1549-1551)Cgc>Tgc p.R517C MARK4_ENST00000300843.4_Missense_Mutation_p.R517C NM_001199867.1 NP_001186796.1 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 517.0 microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468) centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005) ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130) NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31.0 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) TTGCACAGAACGCCCGGGGGC 0.592 0 C CYS/ARG,CYS/ARG 1,4405 2.1+/-5.4 0,1,2202 67.0 53.0 57.0 1549,1549 4.5 1.0 19 57.0 0,8600 0,0,4300 no missense,missense MARK4 NM_001199867.1,NM_031417.3 180,180 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 probably-damaging,probably-damaging 517/753,517/689 45797661.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AB049127 CCDS12658.1, CCDS56097.1 19q13.32 2014-04-07 2002-06-12 2002-06-14 ENSG00000007047 ENSG00000007047 57787.0 57787.0 2.7.11.1 13538.0 protein-coding gene gene with protein product 606495 """MAP/microtubule affinity-regulating kinase like 1""" MARKL1 23400999, 11326310, 9108484 Standard NM_031417 NM_001199867 Approved Nbla00650, FLJ90097, KIAA1860, PAR-1D uc002paz.2 Q96L34 OTTHUMG00000181769 ENST00000262891.4:c.1549C>T 19.__UNKNOWN__:g.45797661C>T ENSP00000262891:p.Arg517Cys Q8NG37|Q96JG7|Q96SQ2|Q9BYD8 __UNKNOWN__ CCDS56097.1 . . . . . . . . . . C 21.4 4.140436 0.77775 2.27E-4 0.0 ENSG00000007047 ENST00000262891;ENST00000300843 T;T 0.50001 0.76;0.76 4.47 4.47 0.54385 . 0.000000 0.64402 D 0.000001 T 0.67915 0.2944 M 0.73430 2.235 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.83275 0.994;0.996 T 0.72707 -0.4212 10 0.87932 D 0 . 14.6711 0.68945 0.0:1.0:0.0:0.0 . 517;517 Q96L34;Q96L34-2 MARK4_HUMAN;. C 517 ENSP00000262891:R517C;ENSP00000300843:R517C ENSP00000262891:R517C R + 1 0 MARK4 50489501 1.000000 0.71417 0.995000 0.50966 0.948000 0.59901 3.752000 0.55172 2.313000 0.78055 0.655000 0.94253 CGC MARK4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457537.1 + ENST00000262891.4 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH DNM1P46 0 broad.mit.edu 37 15 100332450 100332450 + RNA SNP C C T TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr15:100332450C>T ENST00000341853.1 - 0.0 1741 NR_003260.1 Q6ZS02 DMP46_HUMAN DNM1 pseudogene 46 microtubule (GO:0005874) GTPase activity (GO:0003924) AGGGAGCGAGCGGAGAAACTA 0.587 0 119.0 118.0 119.0 15 100332450.0 876.0 1991.0 2867.0 AJ576275 15q26.3 2013-04-25 ENSG00000182397 ENSG00000182397 196968.0 196968.0 35199.0 pseudogene pseudogene """chromosome 15 open reading frame 51""" DNM1DN14@, C15orf51 Standard NR_003260 NR_003260 Approved DNM1DN14.2, FLJ45937, DKFZp434I1020 uc021sxl.1 Q6ZS02 OTTHUMG00000149852 ENST00000341853.1: 15.__UNKNOWN__:g.100332450C>T Q3ZCN3 __UNKNOWN__ DNM1P46-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000313543.1 - ENST00000341853.1 RNA SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH TRRAP 8295 broad.mit.edu 37 7 98586584 98586584 + Missense_Mutation SNP G G A TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr7:98586584G>A ENST00000446306.3 + 60.0 9572 c.9511G>A c.(9511-9513)Gcc>Acc p.A3171T TRRAP_ENST00000355540.3_Missense_Mutation_p.A3171T|TRRAP_ENST00000359863.4_Missense_Mutation_p.A3200T Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3200.0 FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}. chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276) phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712) 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) 176.0 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) GAAATACTTAGCCAAGGTGAG 0.522 0 36.0 37.0 36.0 7 98586584.0 2203.0 4300.0 6503.0 SO:0001583 missense AF076974 CCDS5659.1, CCDS59066.1 7q21.2-q22.1 2010-06-22 ENSG00000196367 ENSG00000196367 8295.0 8295.0 12347.0 protein-coding gene gene with protein product 603015 9708738, 9885574 Standard NM_003496 NM_003496 Approved TR-AP, PAF400, Tra1 uc003upp.3 Q9Y4A5 OTTHUMG00000150403 ENST00000446306.3:c.9511G>A 7.__UNKNOWN__:g.98586584G>A ENSP00000403708:p.Ala3171Thr A4D265|O75218|Q9Y631|Q9Y6H4 __UNKNOWN__ . . . . . . . . . . G 35 5.462778 0.96257 . . ENSG00000196367 ENST00000359863;ENST00000355540;ENST00000446306 T;T 0.69685 -0.42;-0.42 5.32 5.32 0.75619 PIK-related kinase (1);PIK-related kinase, FAT (1); 0.000000 0.85682 D 0.000000 D 0.83266 0.5217 M 0.80982 2.52 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 D 0.84540 0.0638 10 0.54805 T 0.06 . 19.0084 0.92861 0.0:0.0:1.0:0.0 . 3171;2910;3200 Q9Y4A5-2;Q59FH1;Q9Y4A5 .;.;TRRAP_HUMAN T 3200;3171;3170 ENSP00000352925:A3200T;ENSP00000347733:A3171T ENSP00000347733:A3171T A + 1 0 TRRAP 98424520 1.000000 0.71417 0.963000 0.40424 0.873000 0.50193 9.758000 0.98927 2.489000 0.83994 0.655000 0.94253 GCC TRRAP-004 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000317981.3 + ENST00000446306.3 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH SAMD15 161394 broad.mit.edu 37 14 77845064 77845064 + Missense_Mutation SNP G G A TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr14:77845064G>A ENST00000216471.4 + 1.0 1589 c.1303G>A c.(1303-1305)Gga>Aga p.G435R SAMD15_ENST00000533095.2_Intron NM_001010860.1 NP_001010860.1 Q9P1V8 SAM15_HUMAN sterile alpha motif domain containing 15 435.0 breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28.0 GTATTCTGTAGGAAACGATGA 0.388 0 67.0 64.0 65.0 14 77845064.0 2203.0 4300.0 6503.0 SO:0001583 missense AK093282 CCDS32126.1 14q24.3 2013-01-10 2010-10-20 2010-10-20 ENSG00000100583 ENSG00000100583 161394.0 161394.0 """Sterile alpha motif (SAM) domain containing""" 18631.0 protein-coding gene gene with protein product """family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174""" FAM15A, C14orf174 Standard NM_001010860 XM_006720069 Approved FLJ35963 uc001xtq.1 Q9P1V8 ENST00000216471.4:c.1303G>A 14.__UNKNOWN__:g.77845064G>A ENSP00000216471:p.Gly435Arg Q2M3P3 __UNKNOWN__ CCDS32126.1 . . . . . . . . . . g 8.070 0.769956 0.15983 . . ENSG00000100583 ENST00000216471 T 0.21031 2.03 4.6 0.652 0.17823 . . . . . T 0.10165 0.0249 N 0.24115 0.695 0.09310 N 1 B 0.34015 0.435 B 0.31337 0.128 T 0.32025 -0.9922 9 0.15066 T 0.55 -0.0072 3.7682 0.08630 0.1848:0.0:0.4798:0.3355 . 435 Q9P1V8 SAM15_HUMAN R 435 ENSP00000216471:G435R ENSP00000216471:G435R G + 1 0 SAMD15 76914817 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 0.425000 0.21346 -0.046000 0.13446 -1.167000 0.01749 GGA SAMD15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394587.2 + ENST00000216471.4 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH CEP250 11190 broad.mit.edu 37 20 34099388 34099388 + Missense_Mutation SNP G G A TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr20:34099388G>A ENST00000397527.1 + 35.0 7982 c.7262G>A c.(7261-7263)aGt>aAt p.S2421N CEP250_ENST00000342580.4_Missense_Mutation_p.S2365N NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 2421.0 centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997) centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616) protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901) 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) 45.0 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CTGACTCAAAGTCTGACATCC 0.632 0 50.0 50.0 50.0 20 34099388.0 2203.0 4300.0 6503.0 SO:0001583 missense AF022655 CCDS13255.1 20q11.22 2014-02-20 2006-01-11 2006-01-11 ENSG00000126001 ENSG00000126001 11190.0 11190.0 1859.0 protein-coding gene gene with protein product 609689 """centrosomal protein 2""" CEP2 9506584, 9647649 Standard NM_007186 NM_007186 Approved C-NAP1 uc021wco.1 Q9BV73 OTTHUMG00000032343 ENST00000397527.1:c.7262G>A 20.__UNKNOWN__:g.34099388G>A ENSP00000380661:p.Ser2421Asn E1P5Q3|O14812|O60588|Q9H450 __UNKNOWN__ CCDS13255.1 . . . . . . . . . . G 18.75 3.690610 0.68271 . . ENSG00000126001 ENST00000397527;ENST00000342580;ENST00000422671 T;T;T 0.61274 2.33;2.29;0.12 4.75 3.77 0.43336 . 0.101189 0.43919 D 0.000512 T 0.71921 0.3397 M 0.75447 2.3 0.27215 N 0.959806 D 0.71674 0.998 D 0.80764 0.994 T 0.63435 -0.6638 10 0.72032 D 0.01 . 10.0132 0.41999 0.08:0.1386:0.7814:0.0 . 2421 Q9BV73 CP250_HUMAN N 2421;2365;856 ENSP00000380661:S2421N;ENSP00000341541:S2365N;ENSP00000395992:S856N ENSP00000341541:S2365N S + 2 0 CEP250 33562802 1.000000 0.71417 1.000000 0.80357 0.947000 0.59692 1.935000 0.40173 2.478000 0.83669 0.561000 0.74099 AGT CEP250-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078877.7 + ENST00000397527.1 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH NOTCH3 4854 broad.mit.edu 37 19 15290911 15290911 + Missense_Mutation SNP C C T TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr19:15290911C>T ENST00000263388.2 - 20.0 3374 c.3299G>A c.(3298-3300)cGt>cAt p.R1100H NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1100.0 EGF-like 28. {ECO:0000255|PROSITE- ProRule:PRU00076}. forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509) 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) 93.0 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CATATAGCCACGGCAGGTCCC 0.642 C 1.0 0.0005 2184.0 0.0017 1.0 , , 0.0003 0.0005 1.0 LOWCOV,EXOME 0.0004 SNP 0 C HIS/ARG 0,4406 0,0,2203 44.0 43.0 44.0 3299 3.0 0.8 19 44.0 1,8599 1.2+/-3.3 0,1,4299 no missense NOTCH3 NM_000435.2 29 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 benign 1100/2322 15290911.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense U97669 CCDS12326.1 19p13.2-p13.1 2013-01-10 2010-06-24 ENSG00000074181 4854.0 4854.0 """Ankyrin repeat domain containing""" 7883.0 protein-coding gene gene with protein product 600276 """Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)""" CADASIL 7835890 Standard NM_000435 NM_000435 Approved CASIL uc002nan.3 Q9UM47 ENST00000263388.2:c.3299G>A 19.__UNKNOWN__:g.15290911C>T ENSP00000263388:p.Arg1100His Q9UEB3|Q9UPL3|Q9Y6L8 __UNKNOWN__ CCDS12326.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 14.15 2.450343 0.43531 0.0 1.16E-4 ENSG00000074181 ENST00000263388;ENST00000539383 D 0.87729 -2.29 5.08 2.95 0.34219 EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1); 0.740081 0.10694 N 0.644799 T 0.77485 0.4137 N 0.20357 0.565 0.49483 D 0.999792 B;B 0.21452 0.043;0.056 B;B 0.20955 0.012;0.032 T 0.66508 -0.5906 10 0.39692 T 0.17 . 8.2052 0.31452 0.0:0.7493:0.0:0.2507 . 1051;1100 Q59FL3;Q9UM47 .;NOTC3_HUMAN H 1100;1050 ENSP00000263388:R1100H ENSP00000263388:R1100H R - 2 0 NOTCH3 15151911 0.000000 0.05858 0.775000 0.31657 0.991000 0.79684 -0.672000 0.05244 0.547000 0.28938 0.655000 0.94253 CGT NOTCH3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465714.1 - ENST00000263388.2 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH ZNF507 22847 broad.mit.edu 37 19 32843786 32843786 + Missense_Mutation SNP A A G TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr19:32843786A>G ENST00000311921.4 + 2.0 242 c.50A>G c.(49-51)cAg>cGg p.Q17R ZNF507_ENST00000544431.1_Missense_Mutation_p.Q17R|ZNF507_ENST00000355898.5_Missense_Mutation_p.Q17R NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 17.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31.0 Esophageal squamous(110;0.162) ATTGGGGAACAGGAAGCTATA 0.358 0 93.0 92.0 92.0 19 32843786.0 2203.0 4300.0 6503.0 SO:0001583 missense AB029007 CCDS32985.1 19q13.12 2008-02-05 ENSG00000168813 22847.0 22847.0 """Zinc fingers, C2H2-type""" 23783.0 protein-coding gene gene with protein product Standard NM_014910 NM_014910 Approved KIAA1084 uc002ntd.3 Q8TCN5 ENST00000311921.4:c.50A>G 19.__UNKNOWN__:g.32843786A>G ENSP00000312277:p.Gln17Arg A8K911|Q2TBF1|Q6MZU0|Q9UPR8 __UNKNOWN__ CCDS32985.1 . . . . . . . . . . A 12.98 2.100557 0.37048 . . ENSG00000168813 ENST00000355898;ENST00000311921;ENST00000544431 T;T;T 0.08370 3.41;3.41;3.1 5.5 4.48 0.54585 . 0.405610 0.28156 N 0.016394 T 0.11836 0.0288 L 0.55481 1.735 0.30303 N 0.789277 P;P 0.45827 0.671;0.867 B;B 0.44044 0.188;0.439 T 0.02654 -1.1128 10 0.51188 T 0.08 -9.0046 11.2739 0.49155 0.71:0.29:0.0:0.0 . 17;17 Q8TCN5;Q8TCN5-2 ZN507_HUMAN;. R 17 ENSP00000348162:Q17R;ENSP00000312277:Q17R;ENSP00000441549:Q17R ENSP00000312277:Q17R Q + 2 0 ZNF507 37535626 1.000000 0.71417 0.982000 0.44146 0.949000 0.60115 4.473000 0.60196 0.985000 0.38656 0.402000 0.26972 CAG ZNF507-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000450301.3 + ENST00000311921.4 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH SEMA7A 8482 broad.mit.edu 37 15 74706922 74706922 + Silent SNP G G A TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr15:74706922G>A ENST00000261918.4 - 10.0 1808 c.1260C>T c.(1258-1260)caC>caT p.H420H SEMA7A_ENST00000542748.1_Silent_p.H255H|SEMA7A_ENST00000543145.2_Silent_p.H406H NM_003612.3 NP_003603.1 O75326 SEM7A_HUMAN semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) 420.0 Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}. axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727) anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886) receptor activity (GO:0004872) breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30.0 AGGTCTCCCCGTGGCTGGCTT 0.537 0 109.0 114.0 112.0 15 74706922.0 2197.0 4296.0 6493.0 SO:0001819 synonymous_variant AF069493 CCDS10262.1, CCDS53958.1, CCDS53959.1 15q22.3-q23 2014-07-18 2006-02-23 ENSG00000138623 ENSG00000138623 8482.0 8482.0 """Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 10741.0 protein-coding gene gene with protein product """John Milton Hagen blood group"", ""H-Sema K1""" 607961 """sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)""" SEMAL 9721204 Standard NM_003612 NM_003612 Approved H-Sema-L, CD108 uc002axv.3 O75326 OTTHUMG00000139000 ENST00000261918.4:c.1260C>T 15.__UNKNOWN__:g.74706922G>A B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5 __UNKNOWN__ CCDS10262.1 SEMA7A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000272904.3 - ENST00000261918.4 Silent SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH PCDHA5 0 broad.mit.edu 37 5 140202503 140202503 + Missense_Mutation SNP C C A TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr5:140202503C>A ENST00000529859.1 + 1.0 1143 c.1143C>A c.(1141-1143)aaC>aaA p.N381K PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.N381K|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.N381K NM_018908.2 NP_061731.1 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 381.0 Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}. cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399) integral component of plasma membrane (GO:0005887) calcium ion binding (GO:0005509) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60.0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGTGCCAACGGGCAGGTGA 0.577 0 121.0 109.0 113.0 5 140202503.0 2203.0 4300.0 6503.0 SO:0001583 missense AF152483 CCDS54917.1 5q31 2010-11-26 ENSG00000204965 56143.0 56143.0 """Cadherins / Protocadherins : Clustered""" 8671.0 other complex locus constituent """ortholog of mouse CNR6"", ""KIAA0345-like 9""" 606311 CNRS6 10380929, 10662547 Standard NM_018908 NM_018908 Approved CNR6, CRNR6, CNRN6, PCDH-ALPHA5 Q9Y5H7 ENST00000529859.1:c.1143C>A 5.__UNKNOWN__:g.140202503C>A ENSP00000436557:p.Asn381Lys O75284|Q8N4R3 __UNKNOWN__ CCDS54917.1 . . . . . . . . . . C 9.004 0.980793 0.18812 . . ENSG00000204965 ENST00000529619;ENST00000529859;ENST00000378126 T;T;T 0.59906 0.23;0.23;0.23 3.84 -7.68 0.01268 Cadherin (4);Cadherin-like (1); . . . . T 0.81133 0.4759 H 0.96080 3.765 0.22096 N 0.999368 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.999;0.991;0.988 T 0.81017 -0.1123 9 0.87932 D 0 . 16.9361 0.86203 0.0:0.6325:0.0:0.3675 . 381;381;381 Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2 PCDA5_HUMAN;.;. K 381 ENSP00000433416:N381K;ENSP00000436557:N381K;ENSP00000367366:N381K ENSP00000367366:N381K N + 3 2 PCDHA5 140182687 0.000000 0.05858 0.019000 0.16419 0.174000 0.22865 -3.126000 0.00593 -2.197000 0.00750 -1.008000 0.02478 AAC PCDHA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000372883.2 + ENST00000529859.1 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH DNAH17 8632 broad.mit.edu 37 17 76510973 76510973 + Silent SNP G G A TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr17:76510973G>A ENST00000585328.1 - 26.0 4111 c.3987C>T c.(3985-3987)gcC>gcT p.A1329A DNAH17_ENST00000389840.5_Silent_p.A1328A NM_173628.3 NP_775899.3 Q9UFH2 DYH17_HUMAN dynein, axonemal, heavy chain 17 1328.0 Stem. {ECO:0000250}. cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) 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) 116.0 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GCCCCACGAAGGCATCCCAGG 0.532 0 170.0 173.0 172.0 17 76510973.0 2122.0 4242.0 6364.0 SO:0001819 synonymous_variant AJ000522 17q25.3 2012-04-19 2006-09-04 ENSG00000187775 ENSG00000187775 8632.0 8632.0 """Axonemal dyneins""" 2946.0 protein-coding gene gene with protein product 610063 """dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1""" DNAHL1 9545504 Standard NM_173628 NM_173628 Approved DNEL2, FLJ40457 uc010dhp.2 Q9UFH2 ENST00000585328.1:c.3987C>T 17.__UNKNOWN__:g.76510973G>A O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7 __UNKNOWN__ DNAH17-001 PUTATIVE not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000318962.2 - ENST00000585328.1 Silent SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH IGLL1 3543 broad.mit.edu 37 22 23915576 23915576 + Silent SNP G G A TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr22:23915576G>A ENST00000330377.2 - 3.0 636 c.519C>T c.(517-519)taC>taT p.Y173Y IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000458318.1_RNA NM_020070.3 NP_064455.1 P15814 IGLL1_HUMAN immunoglobulin lambda-like polypeptide 1 173.0 C region (By similarity to lambda light- chain).|Ig-like C1-type. immune response (GO:0006955) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1) 12.0 TGCTGGCCGCGTACTTGTTGT 0.607 0 115.0 102.0 106.0 22 23915576.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X52204 CCDS13809.1, CCDS13810.1 22q11.23 2014-09-17 ENSG00000128322 ENSG00000128322 3543.0 3543.0 """CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing""" 5870.0 protein-coding gene gene with protein product 146770 IGLL 3139558, 2511029 Standard NM_020070 NM_020070 Approved IGVPB, IGL5, 14.1, CD179B uc002zxd.3 P15814 OTTHUMG00000150673 ENST00000330377.2:c.519C>T 22.__UNKNOWN__:g.23915576G>A Q0P681 __UNKNOWN__ CCDS13809.1 IGLL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000319569.1 - ENST00000330377.2 Silent SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH PRICKLE2 166336 broad.mit.edu 37 3 64184482 64184482 + Missense_Mutation SNP G G A TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr3:64184482G>A ENST00000564377.1 - 3.0 299 c.290C>T c.(289-291)cCg>cTg p.P97L PRICKLE2_ENST00000295902.6_Missense_Mutation_p.P41L|PRICKLE2-AS3_ENST00000473434.1_RNA Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 41.0 PET. {ECO:0000255|PROSITE- ProRule:PRU00636}. establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175) apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634) zinc ion binding (GO:0008270) breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32.0 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) CAGACCCGGCGGGACCCAGGC 0.512 0 130.0 100.0 110.0 3 64184482.0 2203.0 4300.0 6503.0 SO:0001583 missense AK127839 CCDS2902.1 3p14.3 2006-09-12 2006-09-12 ENSG00000163637 ENSG00000163637 166336.0 166336.0 20340.0 protein-coding gene gene with protein product 608501 """prickle-like 2 (Drosophila)""" 12525887 Standard NM_198859 NM_198859 Approved DKFZp686D143 uc003dmf.3 Q7Z3G6 OTTHUMG00000158789 ENST00000564377.1:c.290C>T 3.__UNKNOWN__:g.64184482G>A ENSP00000455004:p.Pro97Leu Q0VF44 __UNKNOWN__ . . . . . . . . . . G 34 5.299956 0.95574 . . ENSG00000163637 ENST00000295902;ENST00000498162 D;D 0.96232 -3.95;-3.95 5.69 5.69 0.88448 PET domain (2); 0.000000 0.64402 D 0.000002 D 0.98469 0.9490 M 0.88906 2.99 0.80722 D 1 D 0.89917 1.0 D 0.80764 0.994 D 0.99146 1.0857 10 0.87932 D 0 -33.7783 19.8075 0.96536 0.0:0.0:1.0:0.0 . 41 Q7Z3G6 PRIC2_HUMAN L 41 ENSP00000295902:P41L;ENSP00000419951:P41L ENSP00000295902:P41L P - 2 0 PRICKLE2 64159522 1.000000 0.71417 0.973000 0.42090 0.763000 0.43281 9.805000 0.99149 2.670000 0.90874 0.650000 0.86243 CCG PRICKLE2-003 NOVEL not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000431928.1 - ENST00000564377.1 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH CASC4 113201 broad.mit.edu 37 15 44673018 44673018 + Missense_Mutation SNP C C T TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr15:44673018C>T ENST00000345795.2 + 8.0 1186 c.916C>T c.(916-918)Cac>Tac p.H306Y CASC4_ENST00000299957.6_Missense_Mutation_p.H306Y|CASC4_ENST00000360824.3_3'UTR NM_177974.2 NP_816929.1 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 306.0 Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2) 17.0 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) ACACATAAACCACAATGGAAA 0.343 0 57.0 55.0 55.0 15 44673018.0 2198.0 4298.0 6496.0 SO:0001583 missense AF103804 CCDS10108.1, CCDS10109.1 15q15.1 2010-11-24 ENSG00000166734 ENSG00000166734 113201.0 113201.0 24892.0 protein-coding gene gene with protein product 10497265 Standard NM_138423 NM_138423 Approved H63, DKFZp459F1927 uc001ztp.3 Q6P4E1 OTTHUMG00000131133 ENST00000345795.2:c.916C>T 15.__UNKNOWN__:g.44673018C>T ENSP00000335063:p.His306Tyr B4DPZ6|G5E934|Q6UY45|Q96EM1 __UNKNOWN__ CCDS10109.1 . . . . . . . . . . C 15.04 2.714398 0.48622 . . ENSG00000166734 ENST00000299957;ENST00000345795;ENST00000416522 . . . 4.77 3.85 0.44370 . 0.688231 0.14718 N 0.302496 T 0.44644 0.1303 L 0.36672 1.1 0.80722 D 1 D;B;P 0.53745 0.962;0.256;0.71 P;B;B 0.45681 0.49;0.187;0.251 T 0.42531 -0.9446 9 0.56958 D 0.05 . 7.9478 0.29998 0.0:0.8899:0.0:0.1101 . 306;306;306 Q6P4E1-2;G5E934;Q6P4E1 .;.;CASC4_HUMAN Y 306;306;285 . ENSP00000299957:H306Y H + 1 0 CASC4 42460310 1.000000 0.71417 0.975000 0.42487 0.774000 0.43823 1.810000 0.38932 2.190000 0.69967 0.484000 0.47621 CAC CASC4-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253816.1 + ENST00000345795.2 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH SETBP1 26040 broad.mit.edu 37 18 42531452 42531452 + Missense_Mutation SNP G G A TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr18:42531452G>A ENST00000282030.5 + 4.0 2443 c.2147G>A c.(2146-2148)aGc>aAc p.S716N NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 716.0 nucleus (GO:0005634) DNA binding (GO:0003677) NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104.0 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) ATTAATGTCAGCAAGAGGGGA 0.567 Schinzel-Giedion syndrome 0 41.0 43.0 43.0 18 42531452.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database SGC, Schinzel-Giedion Midface Retraction syndrome AB022660 CCDS11923.2, CCDS45859.1 18q21.1 2008-08-01 ENSG00000152217 ENSG00000152217 26040.0 26040.0 15573.0 protein-coding gene gene with protein product 611060 11231286 Standard NM_001130110 NM_015559 Approved SEB, KIAA0437 uc010dni.3 Q9Y6X0 OTTHUMG00000132613 ENST00000282030.5:c.2147G>A 18.__UNKNOWN__:g.42531452G>A ENSP00000282030:p.Ser716Asn A6H8W5|Q6P6C3|Q9UEF3 __UNKNOWN__ CCDS11923.2 . . . . . . . . . . G 17.38 3.374903 0.61735 . . ENSG00000152217 ENST00000282030 D 0.91295 -2.82 6.17 5.3 0.74995 . 0.093992 0.64402 D 0.000001 D 0.91925 0.7443 L 0.59436 1.845 0.40656 D 0.982084 D 0.55800 0.973 P 0.51657 0.676 D 0.93014 0.6434 10 0.87932 D 0 . 15.4602 0.75349 0.066:0.0:0.934:0.0 . 716 Q9Y6X0 SETBP_HUMAN N 716 ENSP00000282030:S716N ENSP00000282030:S716N S + 2 0 SETBP1 40785450 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 9.835000 0.99442 1.616000 0.50265 0.655000 0.94253 AGC SETBP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255854.4 + ENST00000282030.5 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH ASRGL1 80150 broad.mit.edu 37 11 62124546 62124546 + Missense_Mutation SNP A A G TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr11:62124546A>G ENST00000415229.2 + 4.0 636 c.421A>G c.(421-423)Aca>Gca p.T141A ASRGL1_ENST00000535727.1_Missense_Mutation_p.T13A|ASRGL1_ENST00000301776.5_Missense_Mutation_p.T141A|ASRGL1_ENST00000528206.1_3'UTR NM_001083926.1 NP_001077395.1 Q7L266 ASGL1_HUMAN asparaginase like 1 141.0 asparagine catabolic process via L-aspartate (GO:0033345) cytoplasm (GO:0005737)|nucleus (GO:0005634) asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798) endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 7.0 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) AAAACTGGTGACAGAGAGAAA 0.463 0 62.0 71.0 68.0 11 62124546.0 2202.0 4299.0 6501.0 SO:0001583 missense CCDS8019.1 11q12.3 2008-07-18 ENSG00000162174 ENSG00000162174 80150.0 80150.0 16448.0 protein-coding gene gene with protein product """asparaginase-like 1 protein""" 609212 Standard NM_001083926 NM_025080 Approved FLJ22316, ALP1, ALP uc001ntf.4 Q7L266 OTTHUMG00000167513 ENST00000415229.2:c.421A>G 11.__UNKNOWN__:g.62124546A>G ENSP00000400057:p.Thr141Ala B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7 __UNKNOWN__ CCDS8019.1 . . . . . . . . . . a 17.94 3.512034 0.64522 . . ENSG00000162174 ENST00000415229;ENST00000535727;ENST00000301776 D;D;D 0.89270 -2.49;-2.49;-2.49 5.77 5.77 0.91146 . 0.000000 0.85682 D 0.000000 D 0.94384 0.8194 M 0.91920 3.255 0.58432 D 0.999991 P 0.45474 0.859 P 0.54706 0.759 D 0.95271 0.8377 10 0.87932 D 0 -25.4919 14.1149 0.65146 1.0:0.0:0.0:0.0 . 141 Q7L266 ASGL1_HUMAN A 141;13;141 ENSP00000400057:T141A;ENSP00000443284:T13A;ENSP00000301776:T141A ENSP00000301776:T141A T + 1 0 ASRGL1 61881122 1.000000 0.71417 0.346000 0.25655 0.228000 0.25075 4.826000 0.62715 2.221000 0.72209 0.451000 0.29950 ACA ASRGL1-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394865.1 + ENST00000415229.2 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH ATP9A 10079 broad.mit.edu 37 20 50329586 50329586 + Missense_Mutation SNP G G A TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr20:50329586G>A ENST00000338821.5 - 4.0 619 c.355C>T c.(355-357)Cgt>Tgt p.R119C ATP9A_ENST00000402822.1_Missense_Mutation_p.R119C|ATP9A_ENST00000311637.5_Missense_Mutation_p.R104C NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 119.0 phospholipid translocation (GO:0045332) early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48.0 ACCGCCTCACGGATGACAGTG 0.622 0 88.0 60.0 69.0 20 50329586.0 2203.0 4299.0 6502.0 SO:0001583 missense AB014511 CCDS33489.1 20q13.2 2010-04-20 2007-09-19 ENSG00000054793 ENSG00000054793 10079.0 10079.0 """ATPases / P-type""" 13540.0 protein-coding gene gene with protein product 609126 """ATPase, Class II, type 9A""" 9734811, 11015572 Standard NM_006045 NM_006045 Approved KIAA0611, ATPIIA uc002xwg.1 O75110 OTTHUMG00000032751 ENST00000338821.5:c.355C>T 20.__UNKNOWN__:g.50329586G>A ENSP00000342481:p.Arg119Cys E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7 __UNKNOWN__ CCDS33489.1 . . . . . . . . . . G 23.0 4.358727 0.82243 . . ENSG00000054793 ENST00000311637;ENST00000338821;ENST00000402822 T;T;T 0.77620 -1.11;-1.11;-1.11 4.8 4.8 0.61643 ATPase, P-type, ATPase-associated domain (1);ATPase, P-type, cytoplasmic transduction domain A (1); 0.118282 0.56097 D 0.000022 D 0.89588 0.6758 M 0.86502 2.82 0.42362 D 0.992419 D;D 0.76494 0.991;0.999 P;D 0.76575 0.727;0.988 D 0.91827 0.5472 10 0.72032 D 0.01 -7.5447 17.8464 0.88731 0.0:0.0:1.0:0.0 . 119;119 O75110-2;O75110 .;ATP9A_HUMAN C 104;119;119 ENSP00000309086:R104C;ENSP00000342481:R119C;ENSP00000385875:R119C ENSP00000309086:R104C R - 1 0 ATP9A 49762993 1.000000 0.71417 0.999000 0.59377 0.960000 0.62799 3.500000 0.53318 2.216000 0.71823 0.557000 0.71058 CGT ATP9A-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000106494.1 - ENST00000338821.5 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH IL15RA 3601 broad.mit.edu 37 10 5995110 5995110 + Missense_Mutation SNP C C A TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr10:5995110C>A ENST00000379977.3 - 7.0 849 c.752G>T c.(751-753)tGg>tTg p.W251L IL15RA_ENST00000528354.1_Missense_Mutation_p.W218L|IL15RA_ENST00000397251.3_Missense_Mutation_p.W186L|IL15RA_ENST00000397248.2_Missense_Mutation_p.W215L|IL15RA_ENST00000525219.2_Missense_Mutation_p.W215L|IL15RA_ENST00000397250.2_Missense_Mutation_p.W153L|IL15RA_ENST00000534292.1_5'UTR Q13261 I15RA_HUMAN interleukin 15 receptor, alpha 251.0 cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165) cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871) cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5.0 GCTGGTCCCCCAAGTCACCGG 0.557 0 81.0 81.0 81.0 10 5995110.0 2203.0 4300.0 6503.0 SO:0001583 missense U31628 CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1 10p15.1 2012-02-27 ENSG00000134470 ENSG00000134470 3601.0 3601.0 """Interleukins and interleukin receptors"", ""CD molecules""" 5978.0 protein-coding gene gene with protein product 601070 8530383 Standard NM_172200, NM_002189 NM_002189 Approved CD215, IL-15RA uc021pmo.1 Q13261 OTTHUMG00000017612 ENST00000379977.3:c.752G>T 10.__UNKNOWN__:g.5995110C>A ENSP00000369312:p.Trp251Leu B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609 __UNKNOWN__ CCDS7074.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 6.414|6.414 0.444477|0.444477 0.12164|0.12164 .|. .|. ENSG00000134470|ENSG00000134470 ENST00000532039|ENST00000397251;ENST00000379977;ENST00000397248;ENST00000319465;ENST00000528354;ENST00000397250 .|T;T;T;T;T .|0.40225 .|1.04;1.05;1.06;2.04;1.04 3.4|3.4 1.4|1.4 0.22301|0.22301 .|. .|0.556218 .|0.14484 .|N .|0.316770 T|T 0.18882|0.18882 0.0453|0.0453 N|N 0.08118|0.08118 0|0 0.09310|0.09310 N|N 1|1 .|B;B .|0.02656 .|0.0;0.0 .|B;B .|0.01281 .|0.0;0.0 T|T 0.19095|0.19095 -1.0316|-1.0316 5|10 .|0.23891 .|T .|0.37 -24.3979|-24.3979 5.6406|5.6406 0.17562|0.17562 0.2388:0.5506:0.2106:0.0|0.2388:0.5506:0.2106:0.0 .|. .|218;251 .|Q13261-3;Q13261 .|.;I15RA_HUMAN W|L 193|186;251;215;215;218;153 .|ENSP00000380423:W186L;ENSP00000369312:W251L;ENSP00000380421:W215L;ENSP00000435454:W218L;ENSP00000380422:W153L .|ENSP00000322245:W215L G|W -|- 1|2 0|0 IL15RA|IL15RA 6035116|6035116 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.003000|0.003000 0.03518|0.03518 -0.285000|-0.285000 0.08410|0.08410 0.373000|0.373000 0.24621|0.24621 0.313000|0.313000 0.20887|0.20887 GGG|TGG IL15RA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000046615.2 - ENST00000379977.3 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH EHMT1 79813 broad.mit.edu 37 9 140693307 140693307 + Missense_Mutation SNP G G C TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr9:140693307G>C ENST00000460843.1 + 17.0 2575 c.2548G>C c.(2548-2550)Ggc>Cgc p.G850R NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 850.0 chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026) chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270) 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) 41.0 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) TGCCAAGAAAGGCCACTACGA 0.532 0 198.0 165.0 176.0 9 140693307.0 2203.0 4300.0 6503.0 SO:0001583 missense AY083210 CCDS7050.1, CCDS7050.2, CCDS56595.1 9q34.3 2013-09-20 ENSG00000181090 ENSG00000181090 79813.0 79813.0 2.1.1.43 """Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing""" 24650.0 protein-coding gene gene with protein product 607001 """euchromatic histone methyltransferase 1""" 11347906, 12004135 Standard NM_024757 NM_024757 Approved Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D uc011mfc.2 Q9H9B1 OTTHUMG00000020995 ENST00000460843.1:c.2548G>C 9.__UNKNOWN__:g.140693307G>C ENSP00000417980:p.Gly850Arg B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4 __UNKNOWN__ CCDS7050.2 . . . . . . . . . . G 30 5.056876 0.93846 . . ENSG00000181090 ENST00000371400;ENST00000460843 T 0.73258 -0.73 5.61 5.61 0.85477 Ankyrin repeat-containing domain (4); 0.000000 0.85682 D 0.000000 D 0.84875 0.5569 M 0.75777 2.31 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.85948 0.1462 10 0.87932 D 0 . 19.6207 0.95654 0.0:0.0:1.0:0.0 . 850 Q9H9B1 EHMT1_HUMAN R 819;850 ENSP00000417980:G850R ENSP00000360453:G819R G + 1 0 EHMT1 139813128 1.000000 0.71417 1.000000 0.80357 0.976000 0.68499 9.170000 0.94795 2.646000 0.89796 0.561000 0.74099 GGC EHMT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055371.2 + ENST00000460843.1 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH SPHKAP 80309 broad.mit.edu 37 2 228883997 228883997 + Missense_Mutation SNP C C A TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr2:228883997C>A ENST00000392056.3 - 7.0 1619 c.1573G>T c.(1573-1575)Gtc>Ttc p.V525F SPHKAP_ENST00000344657.5_Missense_Mutation_p.V525F NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 525.0 extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018) protein kinase A binding (GO:0051018) 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) 185.0 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) AAGTTCGAGACCACTTGCTCC 0.507 0 62.0 55.0 57.0 2 228883997.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS33389.1, CCDS46537.1 2q36.3 2010-08-20 ENSG00000153820 ENSG00000153820 80309.0 80309.0 """A-kinase anchor proteins""" 30619.0 protein-coding gene gene with protein product """sphingosine kinase type 1-interacting protein""" 611646 12080051, 11214970 Standard NM_030623 NM_030623 Approved SKIP uc002vpq.2 Q2M3C7 OTTHUMG00000153584 ENST00000392056.3:c.1573G>T 2.__UNKNOWN__:g.228883997C>A ENSP00000375909:p.Val525Phe Q68DA3|Q68DR8|Q9C0I5 __UNKNOWN__ CCDS46537.1 . . . . . . . . . . C 10.35 1.324897 0.24080 . . ENSG00000153820 ENST00000392056;ENST00000344657 T;T 0.47869 0.83;0.83 6.03 5.15 0.70609 . 0.665289 0.15267 N 0.271469 T 0.48077 0.1480 M 0.63428 1.95 0.09310 N 1 B;P 0.36282 0.437;0.546 B;B 0.35073 0.099;0.195 T 0.46386 -0.9195 10 0.54805 T 0.06 . 14.4043 0.67071 0.0:0.9298:0.0:0.0702 . 525;525 Q2M3C7;Q2M3C7-2 SPKAP_HUMAN;. F 525 ENSP00000375909:V525F;ENSP00000339886:V525F ENSP00000339886:V525F V - 1 0 SPHKAP 228592241 0.000000 0.05858 0.613000 0.29037 0.164000 0.22412 -0.318000 0.08050 1.558000 0.49541 0.655000 0.94253 GTC SPHKAP-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000331750.1 - ENST00000392056.3 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH ATR 545 broad.mit.edu 37 3 142281438 142281438 + Missense_Mutation SNP A A G TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr3:142281438A>G ENST00000350721.4 - 4.0 927 c.806T>C c.(805-807)tTt>tCt p.F269S ATR_ENST00000383101.3_Missense_Mutation_p.F269S NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ATR serine/threonine kinase 269.0 cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493) chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741) ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) 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) 122.0 TGAGCTGAAAAAAGTGCTAGC 0.358 Other conserved DNA damage response genes 0 64.0 68.0 66.0 3 142281438.0 2203.0 4299.0 6502.0 SO:0001583 missense U76308 CCDS3124.1 3q23 2014-06-17 2014-06-17 ENSG00000175054 ENSG00000175054 545.0 545.0 882.0 protein-coding gene gene with protein product """MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)""" 601215 """ataxia telangiectasia and Rad3 related""" 8978690, 8610130 Standard NM_001184 NM_001184 Approved FRP1, SCKL, SCKL1, MEC1 uc003eux.4 Q13535 OTTHUMG00000159234 ENST00000350721.4:c.806T>C 3.__UNKNOWN__:g.142281438A>G ENSP00000343741:p.Phe269Ser Q59HB2|Q7KYL3|Q93051|Q9BXK4 __UNKNOWN__ CCDS3124.1 . . . . . . . . . . A 15.60 2.880760 0.51801 . . ENSG00000175054 ENST00000350721;ENST00000383101 T;T 0.67345 -0.26;-0.2 5.56 5.56 0.83823 Armadillo-like helical (1);Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.74306 0.3699 L 0.32530 0.975 0.33893 D 0.637635 D 0.76494 0.999 D 0.80764 0.994 T 0.82508 -0.0422 10 0.87932 D 0 -21.7403 15.7097 0.77615 1.0:0.0:0.0:0.0 . 269 Q13535 ATR_HUMAN S 269 ENSP00000343741:F269S;ENSP00000372581:F269S ENSP00000343741:F269S F - 2 0 ATR 143764128 1.000000 0.71417 1.000000 0.80357 0.953000 0.61014 6.865000 0.75500 2.113000 0.64589 0.482000 0.46254 TTT ATR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353995.2 - ENST00000350721.4 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH TOX3 27324 broad.mit.edu 37 16 52473705 52473705 + Nonsense_Mutation SNP A A T TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr16:52473705A>T ENST00000219746.9 - 7.0 1447 c.1163T>A c.(1162-1164)tTa>tAa p.L388* TOX3_ENST00000407228.3_Nonsense_Mutation_p.L383* NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 388.0 apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803) NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24.0 TCTCATGGTTAAGGGTTTGGG 0.517 0 305.0 301.0 302.0 16 52473705.0 2118.0 4248.0 6366.0 SO:0001587 stop_gained U80736 CCDS54008.1, CCDS54009.1 16q12.1 2008-02-05 2007-03-20 2007-03-20 ENSG00000103460 27324.0 27324.0 """Trinucleotide (CAG) repeat containing""" 11972.0 protein-coding gene gene with protein product 611416 """trinucleotide repeat containing 9""" TNRC9 9225980 Standard XM_049037 NM_001080430 Approved CAGF9 uc002egw.2 O15405 ENST00000219746.9:c.1163T>A 16.__UNKNOWN__:g.52473705A>T ENSP00000219746:p.Leu388* B4DRD0|B5MCW4 __UNKNOWN__ CCDS54009.1 . . . . . . . . . . A 37 6.366011 0.97507 . . ENSG00000103460 ENST00000219746;ENST00000407228 . . . 5.75 5.75 0.90469 . 0.000000 0.64402 D 0.000008 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 . 16.056 0.80805 1.0:0.0:0.0:0.0 . . . . X 388;383 . ENSP00000219746:L388X L - 2 0 TOX3 51031206 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 8.962000 0.93254 2.178000 0.69098 0.533000 0.62120 TTA TOX3-003 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000422534.1 - ENST00000219746.9 Nonsense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH LLGL1 3996 broad.mit.edu 37 17 18138460 18138460 + Missense_Mutation SNP A A G TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr17:18138460A>G ENST00000316843.4 + 10.0 1214 c.1118A>G c.(1117-1119)gAc>gGc p.D373G NM_004140.3 NP_004131 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 373.0 axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461) cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588) protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21.0 all_neural(463;0.228) GTGGTGCTGGACCTGCAGACT 0.652 0 45.0 44.0 44.0 17 18138460.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS32586.1 17p11.2 2013-01-10 2001-11-28 ENSG00000131899 ENSG00000131899 3996.0 3996.0 """WD repeat domain containing""" 6628.0 protein-coding gene gene with protein product 600966 """lethal giant larvae (Drosophila) homolog 1""" DLG4, LLGL, HUGL, HUGL-1 7542763, 8565641 Standard XM_005256643 Approved uc002gsp.3 Q15334 OTTHUMG00000059396 ENST00000316843.4:c.1118A>G 17.__UNKNOWN__:g.18138460A>G ENSP00000321537:p.Asp373Gly A7MBM7|O00188|Q58F11|Q86UK6 __UNKNOWN__ CCDS32586.1 . . . . . . . . . . A 29.1 4.979217 0.92982 . . ENSG00000131899 ENST00000316843 T 0.17054 2.3 5.92 5.92 0.95590 WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1); 0.000000 0.85682 D 0.000000 T 0.52484 0.1737 M 0.92738 3.34 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.64067 -0.6494 10 0.72032 D 0.01 -45.1886 15.3822 0.74669 1.0:0.0:0.0:0.0 . 373 Q15334 L2GL1_HUMAN G 373 ENSP00000321537:D373G ENSP00000321537:D373G D + 2 0 LLGL1 18079185 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 9.238000 0.95380 2.275000 0.75901 0.529000 0.55759 GAC LLGL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000132067.3 + ENST00000316843.4 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH MALT1 10892 broad.mit.edu 37 18 56411728 56411728 + Splice_Site SNP G G A TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr18:56411728G>A ENST00000348428.3 + 15.0 2169 c.e15+1 MALT1_ENST00000345724.3_Splice_Site|RP11-126O1.4_ENST00000588835.1_RNA NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852) CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234) cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842) central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12.0 TTTTCCACTTGTGAGTCTCTT 0.289 T BIRC3 MALT Dom yes 18 18q21 10892.0 mucosa associated lymphoid tissue lymphoma translocation gene 1 L 0 110.0 108.0 109.0 18 56411728.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant CCDS11967.1, CCDS11968.1 18q21 2013-01-11 ENSG00000172175 ENSG00000172175 10892.0 10892.0 """Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 6819.0 protein-coding gene gene with protein product """paracaspase""" 604860 MLT 10339464, 10406266, 10523859 Standard NM_006785 Approved uc002lhm.1 Q9UDY8 OTTHUMG00000132761 ENST00000348428.3:c.1911+1G>A 18.__UNKNOWN__:g.56411728G>A Q9NTB7|Q9ULX4 __UNKNOWN__ CCDS11967.1 . . . . . . . . . . G 17.29 3.351283 0.61183 . . ENSG00000172175 ENST00000348428;ENST00000345724 . . . 4.98 4.98 0.66077 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 18.2112 0.89871 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . MALT1 54562708 1.000000 0.71417 1.000000 0.80357 0.550000 0.35303 5.295000 0.65692 2.456000 0.83038 0.591000 0.81541 . MALT1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256132.2 Intron + ENST00000348428.3 Splice_Site SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH KDSR 2531 broad.mit.edu 37 18 61018282 61018282 + Missense_Mutation SNP C C T TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr18:61018282C>T ENST00000406396.3 - 6.0 839 c.448G>A c.(448-450)Gtg>Atg p.V150M KDSR_ENST00000326575.5_Intron NM_002035.2 NP_002026.1 Q06136 KDSR_HUMAN 3-ketodihydrosphingosine reductase 150.0 3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020) 3-dehydrosphinganine reductase activity (GO:0047560) endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 9.0 CTGGGGTACACGCTGCCCAGG 0.547 0 72.0 71.0 71.0 18 61018282.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS11982.1 18q21 2011-09-20 2008-02-20 2008-02-20 ENSG00000119537 ENSG00000119537 2531.0 2531.0 1.1.1.102 """Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3""" 4021.0 protein-coding gene gene with protein product """3-dehydrosphinganine reductase"", ""short chain dehydrogenase/reductase family 35C, member 1""" 136440 """follicular lymphoma variant translocation 1""" FVT1 8417785, 15328338, 17420465, 19027726 Standard NM_002035 Approved DHSR, SDR35C1 uc010dpw.3 Q06136 OTTHUMG00000132792 ENST00000406396.3:c.448G>A 18.__UNKNOWN__:g.61018282C>T ENSP00000385083:p.Val150Met B2R5Y1|B4DMX0 __UNKNOWN__ CCDS11982.1 . . . . . . . . . . C 34 5.362932 0.95877 . . ENSG00000119537 ENST00000406396 D 0.90069 -2.61 5.95 5.95 0.96441 NAD(P)-binding domain (1); 0.000000 0.85682 D 0.000000 D 0.93337 0.7876 L 0.53561 1.675 0.80722 D 1 D 0.89917 1.0 D 0.83275 0.996 D 0.91362 0.5112 10 0.35671 T 0.21 . 20.3932 0.98965 0.0:1.0:0.0:0.0 . 150 Q06136 KDSR_HUMAN M 150 ENSP00000385083:V150M ENSP00000385083:V150M V - 1 0 KDSR 59169262 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.818000 0.86416 2.824000 0.97209 0.655000 0.94253 GTG KDSR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256200.2 - ENST00000406396.3 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH NF1 4763 broad.mit.edu 37 17 29676174 29676177 + Frame_Shift_Del DEL CAGT CAGT - TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr17:29676174_29676177delCAGT ENST00000358273.4 + 49.0 7609_7612 c.7226_7229delCAGT c.(7225-7230)acagtcfs p.TV2409fs NF1_ENST00000417592.2_Frame_Shift_Del_p.TV122fs|NF1_ENST00000444181.2_Frame_Shift_Del_p.TV202fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.TV2388fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2409.0 actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060) axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634) phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099) p.0?(8)|p.?(4) 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) 599.0 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) GTTGCAAGAACAGTCAGAATTTTA 0.353 """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) yes Rec yes Neurofibromatosis type 1 17 17q12 4763.0 neurofibromatosis type 1 gene O 12 Whole gene deletion(8)|Unknown(4) soft_tissue(8)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1) SO:0001589 frameshift_variant Familial Cancer Database NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome CCDS11264.1, CCDS42292.1, CCDS45645.1 17q11.2 2014-09-17 2008-07-31 ENSG00000196712 ENSG00000196712 4763.0 4763.0 7765.0 protein-coding gene gene with protein product """neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease""" 613113 1715669 Standard NM_000267 NM_000267 Approved uc002hgg.3 P21359 OTTHUMG00000132871 ENST00000358273.4:c.7226_7229delCAGT 17.__UNKNOWN__:g.29676174_29676177delCAGT ENSP00000351015:p.Thr2409fs O00662|Q14284|Q14930|Q14931|Q9UMK3 __UNKNOWN__ CCDS42292.1 NF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256351.2 + ENST00000358273.4 Frame_Shift_Del DEL PCPG-TCGA-WB-A81P-Normal-SM-5EMMH NCKAP5L 57701 bcgsc.ca 37 12 50190357 50190357 + Missense_Mutation SNP T T C TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr12:50190357T>C ENST00000335999.6 - 8.0 1487 c.1286A>G c.(1285-1287)cAg>cGg p.Q429R NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 425.0 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18.0 GCTTTTCACCTGAGATGAGGA 0.612 0 17.0 18.0 18.0 12 50190357.0 1891.0 4094.0 5985.0 SO:0001583 missense AB046822 CCDS41781.2 12q13.12 2009-08-14 2009-08-14 2009-08-14 ENSG00000167566 ENSG00000167566 57701.0 57701.0 29321.0 protein-coding gene gene with protein product 615104 """KIAA1602""" KIAA1602 Standard XM_035497 NM_001037806 Approved uc009zlk.2 Q9HCH0 OTTHUMG00000156969 ENST00000335999.6:c.1286A>G 12.__UNKNOWN__:g.50190357T>C ENSP00000337998:p.Gln429Arg Q2TB26|Q71RH1|Q8N4W1|Q96HX2 __UNKNOWN__ CCDS41781.2 . . . . . . . . . . T 16.81 3.226903 0.58668 . . ENSG00000167566 ENST00000335999;ENST00000354423 T 0.46451 0.87 4.25 4.25 0.50352 . 0.000000 0.40064 N 0.001188 T 0.30166 0.0756 N 0.08118 0 0.35331 D 0.785624 P;P 0.50528 0.879;0.936 P;P 0.51453 0.597;0.67 T 0.23797 -1.0178 10 0.12766 T 0.61 -14.267 12.6791 0.56912 0.0:0.0:0.0:1.0 . 425;425 E2QRB5;Q9HCH0-2 .;. R 429;425 ENSP00000337998:Q429R ENSP00000337998:Q429R Q - 2 0 NCKAP5L 48476624 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 3.602000 0.54066 1.709000 0.51313 0.459000 0.35465 CAG NCKAP5L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346884.2 - ENST00000335999.6 Missense_Mutation SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH ACSL3 2181 ucsc.edu 37 2 223789239 223789239 + Silent SNP T T A TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 0fc35de1-c685-4ea7-93ad-92682846fe6b e3258538-5df4-42fa-aee4-af0333bd1f08 g.chr2:223789239T>A ENST00000357430.3 + 11.0 1749 c.1218T>A c.(1216-1218)cgT>cgA p.R406R ACSL3_ENST00000392066.3_Silent_p.R406R NM_004457.3 NP_004448.2 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 406.0 brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777) ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901) cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2) 22.0 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) GTTTTCAACGTAATCTGTTTA 0.328 T ETV1 prostate Dom yes 2 2q36 2181.0 acyl-CoA synthetase long-chain family member 3 E 0 94.0 91.0 92.0 2 223789239.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant D89053 CCDS2455.1 2q34-q35 2008-02-05 2004-02-19 2004-02-20 ENSG00000123983 ENSG00000123983 2181.0 2181.0 """Acyl-CoA synthetase family""" 3570.0 protein-coding gene gene with protein product 602371 """fatty-acid-Coenzyme A ligase, long-chain 3""" FACL3 Standard NM_004457 NM_004457 Approved ACS3, PRO2194 uc002vnj.3 O95573 OTTHUMG00000133160 ENST00000357430.3:c.1218T>A 2.__UNKNOWN__:g.223789239T>A Q60I92|Q8IUM9 __UNKNOWN__ CCDS2455.1 ACSL3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256862.2 + ENST00000357430.3 Silent SNP PCPG-TCGA-WB-A81P-Normal-SM-5EMMH SETD2 29072 broad.mit.edu 37 3 47158161 47158161 + Missense_Mutation SNP T T A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr3:47158161T>A ENST00000409792.3 - 4.0 4580 c.4538A>T c.(4537-4539)gAa>gTa p.E1513V NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1513.0 AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}. angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368) chromosome (GO:0005694)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024) 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) 141.0 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) ACATGCTATTTCACCTTGAGC 0.353 """N, F, S, Mis""" clear cell renal carcinoma Rec yes 3 3p21.31 29072.0 SET domain containing 2 E 0 125.0 124.0 124.0 3 47158161.0 2203.0 4300.0 6503.0 SO:0001583 missense AJ238403 CCDS2749.2 3p21.31 2014-09-17 ENSG00000181555 ENSG00000181555 29072.0 29072.0 """Chromatin-modifying enzymes / K-methyltransferases""" 18420.0 protein-coding gene gene with protein product 612778 16118227, 11461154 Standard NM_014159 NM_014159 Approved HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A uc003cqs.3 Q9BYW2 OTTHUMG00000133514 ENST00000409792.3:c.4538A>T 3.__UNKNOWN__:g.47158161T>A ENSP00000386759:p.Glu1513Val O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9 __UNKNOWN__ CCDS2749.2 . . . . . . . . . . T 17.70 3.455043 0.63290 . . ENSG00000181555 ENST00000451092;ENST00000543224;ENST00000409792 T 0.78816 -1.21 5.93 5.93 0.95920 AWS (2); 0.000000 0.64402 D 0.000019 T 0.81460 0.4827 M 0.86502 2.82 0.41522 D 0.988405 B;B 0.19706 0.038;0.038 B;B 0.09377 0.004;0.004 T 0.79902 -0.1607 10 0.66056 D 0.02 . 16.3871 0.83514 0.0:0.0:0.0:1.0 . 1513;1513 F2Z317;Q9BYW2 .;SETD2_HUMAN V 1513 ENSP00000386759:E1513V ENSP00000386759:E1513V E - 2 0 SETD2 47133165 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 4.160000 0.58164 2.270000 0.75569 0.482000 0.46254 GAA SETD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257479.2 - ENST00000409792.3 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC H2AFY 9555 broad.mit.edu 37 5 134705828 134705828 + Missense_Mutation SNP C C A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr5:134705828C>A ENST00000304332.4 - 3.0 348 c.177G>T c.(175-177)gaG>gaT p.E59D H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000511689.1_Missense_Mutation_p.E59D|H2AFY_ENST00000312469.4_Missense_Mutation_p.E59D|H2AFY_ENST00000510038.1_Missense_Mutation_p.E59D NM_004893.2 NP_004884.1 O75367 H2AY_HUMAN H2A histone family, member Y 59.0 Histone H2A. chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334) Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739) chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212) endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11.0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCTCCAGAATCTCCGCTGTGG 0.587 0 68.0 55.0 60.0 5 134705828.0 2203.0 4300.0 6503.0 SO:0001583 missense AF054174 CCDS4183.1, CCDS4184.1, CCDS4185.1 5q31.1 2011-01-27 ENSG00000113648 ENSG00000113648 9555.0 9555.0 """Histones / Replication-independent""" 4740.0 protein-coding gene gene with protein product 610054 9653160, 9714746 Standard NM_004893 NM_004893 Approved macroH2A1.2 uc003lam.1 O75367 OTTHUMG00000129141 ENST00000304332.4:c.177G>T 5.__UNKNOWN__:g.134705828C>A ENSP00000302572:p.Glu59Asp O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96 __UNKNOWN__ CCDS4183.1 . . . . . . . . . . C 24.4 4.528309 0.85706 . . ENSG00000113648 ENST00000511689;ENST00000304332;ENST00000312469;ENST00000510038 T;T;T;T 0.70749 -0.51;-0.51;-0.51;-0.51 6.06 1.32 0.21799 Histone-fold (2);Histone core (1);Histone H2A (2); 0.000000 0.85682 D 0.000000 D 0.87474 0.6186 H 0.97806 4.08 0.80722 D 1 D;D;D 0.89917 1.0;0.997;1.0 D;D;D 0.91635 0.996;0.99;0.999 D 0.85802 0.1374 10 0.87932 D 0 . 7.5247 0.27647 0.0:0.3119:0.0:0.6881 . 59;59;59 O75367-3;O75367-2;O75367 .;.;H2AY_HUMAN D 59 ENSP00000423563:E59D;ENSP00000302572:E59D;ENSP00000310169:E59D;ENSP00000424971:E59D ENSP00000302572:E59D E - 3 2 H2AFY 134733727 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 1.743000 0.38258 0.311000 0.23014 0.655000 0.94253 GAG H2AFY-004 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000371702.1 - ENST00000304332.4 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC SHROOM3 57619 broad.mit.edu 37 4 77661845 77661845 + Missense_Mutation SNP C C T TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr4:77661845C>T ENST00000296043.6 + 5.0 3472 c.2519C>T c.(2518-2520)cCc>cTc p.P840L NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 840.0 actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360) adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874) 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) 60.0 Lung(101;0.0903) TCAGCTGAACCCCTAGGCAAC 0.562 0 61.0 71.0 68.0 4 77661845.0 2203.0 4300.0 6503.0 SO:0001583 missense AB055660 CCDS3579.2 4q21.1 2009-11-25 ENSG00000138771 ENSG00000138771 57619.0 57619.0 30422.0 protein-coding gene gene with protein product 604570 10589677, 16615870 Standard NM_020859 NM_020859 Approved ShrmL, SHRM, KIAA1481, APXL3 uc011cbx.2 Q8TF72 OTTHUMG00000157075 ENST00000296043.6:c.2519C>T 4.__UNKNOWN__:g.77661845C>T ENSP00000296043:p.Pro840Leu Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247 __UNKNOWN__ CCDS3579.2 . . . . . . . . . . c 3.991 -0.004565 0.07773 . . ENSG00000138771 ENST00000296043 T 0.30448 1.53 4.9 1.17 0.20885 . 5.404700 0.00357 N 0.000020 T 0.18130 0.0435 N 0.16478 0.41 0.09310 N 1 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.14200 -1.0481 10 0.10111 T 0.7 0.0056 4.823 0.13400 0.1546:0.5904:0.0:0.2549 . 664;840;618 B4E244;Q8TF72;B3KY47 .;SHRM3_HUMAN;. L 840 ENSP00000296043:P840L ENSP00000296043:P840L P + 2 0 SHROOM3 77880869 0.000000 0.05858 0.000000 0.03702 0.012000 0.07955 1.049000 0.30392 0.001000 0.14605 0.558000 0.71614 CCC SHROOM3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252408.2 + ENST00000296043.6 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC PDS5A 23244 broad.mit.edu 37 4 39924324 39924324 + Missense_Mutation SNP A A T TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr4:39924324A>T ENST00000303538.8 - 6.0 1111 c.572T>A c.(571-573)aTg>aAg p.M191K PDS5A_ENST00000503396.1_Missense_Mutation_p.M191K NM_001100399.1 NP_001093869.1 PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39.0 GATAGAACTCATCAAATCTAG 0.333 0 124.0 112.0 116.0 4 39924324.0 1872.0 4101.0 5973.0 SO:0001583 missense AF294791 CCDS47045.1, CCDS54759.1 4p14 2007-06-20 ENSG00000121892 ENSG00000121892 23244.0 23244.0 29088.0 protein-coding gene gene with protein product 613200 11076961, 15855230 Standard NM_015200 NM_001100399 Approved KIAA0648, PIG54, SCC-112 uc003guv.4 Q29RF7 OTTHUMG00000160582 ENST00000303538.8:c.572T>A 4.__UNKNOWN__:g.39924324A>T ENSP00000303427:p.Met191Lys __UNKNOWN__ CCDS47045.1 . . . . . . . . . . A 26.5 4.740892 0.89573 . . ENSG00000121892 ENST00000303538;ENST00000503396 T;T 0.68331 -0.18;-0.32 5.75 5.75 0.90469 Armadillo-like helical (1);Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.80894 0.4711 M 0.71581 2.175 0.80722 D 1 D;D 0.62365 0.988;0.991 P;D 0.78314 0.877;0.991 T 0.80845 -0.1200 9 . . . -16.6373 16.3473 0.83146 1.0:0.0:0.0:0.0 . 191;191 Q29RF7-3;Q29RF7 .;PDS5A_HUMAN K 191 ENSP00000303427:M191K;ENSP00000426749:M191K . M - 2 0 PDS5A 39600719 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.287000 0.95975 2.320000 0.78422 0.528000 0.53228 ATG PDS5A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000361287.1 - ENST00000303538.8 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC OR8I2 120586 broad.mit.edu 37 11 55860831 55860831 + Silent SNP A A G TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr11:55860831A>G ENST00000302124.2 + 1.0 79 c.48A>G c.(46-48)ggA>ggG p.G16G NM_001003750.1 NP_001003750.1 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 16.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53.0 Esophageal squamous(21;0.00693) TCCTCTCTGGATTTGCAAATC 0.388 0 161.0 158.0 159.0 11 55860831.0 2201.0 4296.0 6497.0 SO:0001819 synonymous_variant AB065656 CCDS31517.1 11q11 2012-08-09 ENSG00000172154 ENSG00000172154 120586.0 120586.0 """GPCR / Class A : Olfactory receptors""" 15310.0 protein-coding gene gene with protein product Standard NM_001003750 NM_001003750 Approved uc010rix.2 Q8N0Y5 OTTHUMG00000166831 ENST00000302124.2:c.48A>G 11.__UNKNOWN__:g.55860831A>G B2RNN4|Q6IFC0|Q96RC5 __UNKNOWN__ CCDS31517.1 OR8I2-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding + ENST00000302124.2 Silent SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC HEBP2 23593 broad.mit.edu 37 6 138726293 138726293 + Silent SNP T T C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr6:138726293T>C ENST00000607197.1 + 2.0 391 c.114T>C c.(112-114)taT>taC p.Y38Y HEBP2_ENST00000448741.1_Silent_p.Y49Y|HEBP2_ENST00000367697.3_Silent_p.Y38Y NM_014320.2 NP_055135.1 Q9Y5Z4 HEBP2_HUMAN heme binding protein 2 38.0 negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of necrotic cell death (GO:0010940) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) endometrium(1)|large_intestine(1)|lung(3) 5.0 Breast(32;0.0933) GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171) CCGGAAGTTATGAGATCCGAC 0.507 0 121.0 121.0 121.0 6 138726293.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF117616 CCDS5191.1 6q24 2008-08-29 2002-09-23 2002-09-27 ENSG00000051620 ENSG00000051620 23593.0 23593.0 15716.0 protein-coding gene gene with protein product 605825 """chromosome 6 open reading frame 34""" C6orf34 10640688, 17098234 Standard NM_014320 Approved SOUL uc003qhw.1 Q9Y5Z4 OTTHUMG00000015671 ENST00000607197.1:c.114T>C 6.__UNKNOWN__:g.138726293T>C Q96P57 __UNKNOWN__ CCDS5191.1 HEBP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042426.2 + ENST00000607197.1 Silent SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC TAB2 23118 broad.mit.edu 37 6 149718873 149718873 + Missense_Mutation SNP A A T TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr6:149718873A>T ENST00000367456.1 + 5.0 2314 c.1737A>T c.(1735-1737)agA>agT p.R579S TAB2_ENST00000538427.1_Missense_Mutation_p.R579S|TAB2_ENST00000536230.1_Missense_Mutation_p.R547S|TAB2_ENST00000286332.5_Missense_Mutation_p.R579S Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 579.0 activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886) K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270) breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22.0 GCCTGAAAAGATCAAATTCTA 0.343 0 132.0 142.0 138.0 6 149718873.0 2200.0 4299.0 6499.0 SO:0001583 missense AF241230 CCDS5214.1 6q25.1 2010-08-05 2010-02-05 2010-02-05 ENSG00000055208 ENSG00000055208 23118.0 23118.0 17075.0 protein-coding gene gene with protein product 605101 """mitogen-activated protein kinase kinase kinase 7 interacting protein 2""" MAP3K7IP2 9872452, 10882101 Standard XR_250046 Approved KIAA0733 uc010kib.2 Q9NYJ8 OTTHUMG00000015783 ENST00000367456.1:c.1737A>T 6.__UNKNOWN__:g.149718873A>T ENSP00000356426:p.Arg579Ser B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7 __UNKNOWN__ CCDS5214.1 . . . . . . . . . . A 17.17 3.320746 0.60634 . . ENSG00000055208 ENST00000536230;ENST00000538427;ENST00000367456;ENST00000286332 T;T;T;T 0.74421 -0.84;-0.83;-0.83;-0.83 5.06 2.59 0.31030 . 0.000000 0.85682 D 0.000000 T 0.66167 0.2762 M 0.68952 2.095 0.80722 D 1 B;P 0.40398 0.411;0.716 B;P 0.47603 0.28;0.551 T 0.67910 -0.5548 10 0.87932 D 0 -11.4289 8.2498 0.31710 0.7834:0.0:0.2166:0.0 . 547;579 B4DIR9;Q9NYJ8 .;TAB2_HUMAN S 547;579;579;579 ENSP00000443206:R547S;ENSP00000445752:R579S;ENSP00000356426:R579S;ENSP00000286332:R579S ENSP00000286332:R579S R + 3 2 TAB2 149760566 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 2.778000 0.47726 0.329000 0.23460 0.383000 0.25322 AGA TAB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042633.3 + ENST00000367456.1 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC MMP8 4317 broad.mit.edu 37 11 102584138 102584138 + Missense_Mutation SNP C C A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr11:102584138C>A ENST00000236826.3 - 10.0 1443 c.1345G>T c.(1345-1347)Gct>Tct p.A449S NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) 449.0 collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508) extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32.0 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) Marimastat(DB00786) ACTCTCTGAGCAATAAGATCA 0.343 0 179.0 156.0 164.0 11 102584138.0 2203.0 4299.0 6502.0 SO:0001583 missense J05556 CCDS8320.1 11q21-q22 2008-02-05 2005-08-08 ENSG00000118113 ENSG00000118113 4317.0 4317.0 3.4.24.34 7175.0 protein-coding gene gene with protein product 120355 """matrix metalloproteinase 8 (neutrophil collagenase)""" CLG1 Standard NM_002424 NM_002424 Approved uc001phe.2 P22894 OTTHUMG00000167587 ENST00000236826.3:c.1345G>T 11.__UNKNOWN__:g.102584138C>A ENSP00000236826:p.Ala449Ser Q45F99 __UNKNOWN__ CCDS8320.1 . . . . . . . . . . C 4.408 0.075454 0.08485 . . ENSG00000118113 ENST00000236826;ENST00000544383 T 0.13196 2.61 5.44 -4.9 0.03094 Hemopexin/matrixin (2); 0.980746 0.08332 N 0.962236 T 0.04998 0.0134 N 0.12831 0.26 0.09310 N 1 B;B 0.19935 0.014;0.04 B;B 0.21360 0.01;0.034 T 0.43458 -0.9390 10 0.08381 T 0.77 . 4.1071 0.10041 0.3689:0.2085:0.0:0.4226 . 449;449 A8K9E4;P22894 .;MMP8_HUMAN S 449;426 ENSP00000236826:A449S ENSP00000236826:A449S A - 1 0 MMP8 102089348 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -2.725000 0.00808 -0.956000 0.03631 -0.253000 0.11424 GCT MMP8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395223.1 - ENST00000236826.3 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC VPS8 23355 broad.mit.edu 37 3 184689502 184689502 + Nonsense_Mutation SNP C C T TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr3:184689502C>T ENST00000436792.2 + 39.0 3519 c.3376C>T c.(3376-3378)Cag>Tag p.Q1126* VPS8_ENST00000446204.2_Nonsense_Mutation_p.Q1036*|VPS8_ENST00000287546.4_Nonsense_Mutation_p.Q1128*|VPS8_ENST00000437079.3_Nonsense_Mutation_p.Q1128* Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 1128.0 zinc ion binding (GO:0008270) 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) 54.0 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) TGCTCTTTGCCAGAGAAATTC 0.408 0 110.0 105.0 107.0 3 184689502.0 1900.0 4124.0 6024.0 SO:0001587 stop_gained AK056661 CCDS46972.1 3q27.2 2006-07-07 2006-07-07 2006-07-07 ENSG00000156931 ENSG00000156931 23355.0 23355.0 29122.0 protein-coding gene gene with protein product """KIAA0804""" KIAA0804 9872452 Standard NM_015303 NM_001009921 Approved FLJ32099 uc003fpb.1 Q8N3P4 OTTHUMG00000156707 ENST00000436792.2:c.3376C>T 3.__UNKNOWN__:g.184689502C>T ENSP00000404704:p.Gln1126* A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0 __UNKNOWN__ CCDS46972.1 . . . . . . . . . . C 43 9.846805 0.99279 . . ENSG00000156931 ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204 . . . 6.06 6.06 0.98353 . 0.106857 0.64402 D 0.000003 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.35671 T 0.21 -5.0819 17.5376 0.87837 0.0:1.0:0.0:0.0 . . . . X 1128;1128;1126;1036 . ENSP00000287546:Q1128X Q + 1 0 VPS8 186172196 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 4.956000 0.63645 2.882000 0.98803 0.655000 0.94253 CAG VPS8-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000345396.2 + ENST00000436792.2 Nonsense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC TADA2B 93624 broad.mit.edu 37 4 7055820 7055820 + Missense_Mutation SNP G G A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr4:7055820G>A ENST00000310074.7 + 2.0 491 c.302G>A c.(301-303)cGg>cAg p.R101Q TADA2B_ENST00000512388.1_Missense_Mutation_p.R26Q|TADA2B_ENST00000515646.1_Missense_Mutation_p.R9Q NM_152293.2 NP_689506.2 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2B 101.0 SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}. chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270) breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 18.0 GGTGCTTCCCGGACTCCCCAA 0.567 0 32.0 38.0 36.0 4 7055820.0 2058.0 4173.0 6231.0 SO:0001583 missense AK026299 CCDS47007.1 4p16.1 2009-10-02 ENSG00000173011 ENSG00000173011 93624.0 93624.0 30781.0 protein-coding gene gene with protein product 608790 12972612, 18936164 Standard NM_152293 NM_152293 Approved MGC21874 uc003gjw.4 Q86TJ2 OTTHUMG00000159983 ENST00000310074.7:c.302G>A 4.__UNKNOWN__:g.7055820G>A ENSP00000308022:p.Arg101Gln A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9 __UNKNOWN__ CCDS47007.1 . . . . . . . . . . G 26.7 4.764737 0.90020 . . ENSG00000173011 ENST00000506692;ENST00000310074;ENST00000512388;ENST00000515646;ENST00000510704 T;T;T;T;T 0.62498 0.54;0.02;1.0;0.32;0.51 5.33 5.33 0.75918 Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1); 0.000000 0.85682 D 0.000000 D 0.83571 0.5283 M 0.90870 3.155 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.69142 0.961;0.962 D 0.87256 0.2276 10 0.72032 D 0.01 -35.183 19.008 0.92859 0.0:0.0:1.0:0.0 . 26;101 Q86TJ2-2;Q86TJ2 .;TAD2B_HUMAN Q 9;101;26;9;9 ENSP00000422398:R9Q;ENSP00000308022:R101Q;ENSP00000423947:R26Q;ENSP00000423181:R9Q;ENSP00000425731:R9Q ENSP00000308022:R101Q R + 2 0 TADA2B 7106721 1.000000 0.71417 0.995000 0.50966 0.755000 0.42902 8.922000 0.92789 2.503000 0.84419 0.561000 0.74099 CGG TADA2B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000358687.2 + ENST00000310074.7 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC MED13L 23389 broad.mit.edu 37 12 116429391 116429391 + Missense_Mutation SNP A A C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr12:116429391A>C ENST00000281928.3 - 17.0 3574 c.3368T>G c.(3367-3369)tTt>tGt p.F1123C NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1123.0 mediator complex (GO:0016592) RNA polymerase II transcription cofactor activity (GO:0001104) 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) 85.0 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TCTGTCTTTAAAGATATTCAT 0.517 0 62.0 62.0 62.0 12 116429391.0 2203.0 4300.0 6503.0 SO:0001583 missense AB028948 CCDS9177.1 12q24.22 2010-07-29 2007-07-30 2007-07-30 ENSG00000123066 ENSG00000123066 23389.0 23389.0 22962.0 protein-coding gene gene with protein product 608771 """thyroid hormone receptor associated protein 2""" THRAP2 Standard NM_015335 Approved KIAA1025, TRAP240L uc001tvw.3 Q71F56 OTTHUMG00000169404 ENST00000281928.3:c.3368T>G 12.__UNKNOWN__:g.116429391A>C ENSP00000281928:p.Phe1123Cys A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5 __UNKNOWN__ CCDS9177.1 . . . . . . . . . . A 15.73 2.919337 0.52546 . . ENSG00000123066 ENST00000281928 D 0.83673 -1.75 5.18 5.18 0.71444 . 0.095205 0.64402 D 0.000001 D 0.89795 0.6818 M 0.67397 2.05 0.80722 D 1 D 0.76494 0.999 D 0.80764 0.994 D 0.90960 0.4812 10 0.87932 D 0 . 15.1994 0.73122 1.0:0.0:0.0:0.0 . 1123 Q71F56 MD13L_HUMAN C 1123 ENSP00000281928:F1123C ENSP00000281928:F1123C F - 2 0 MED13L 114913774 1.000000 0.71417 1.000000 0.80357 0.979000 0.70002 8.761000 0.91691 2.180000 0.69256 0.377000 0.23210 TTT MED13L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403879.3 - ENST00000281928.3 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC SPTA1 6708 broad.mit.edu 37 1 158644382 158644382 + Missense_Mutation SNP G G A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr1:158644382G>A ENST00000368147.4 - 9.0 1376 c.1196C>T c.(1195-1197)cCa>cTa p.P399L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 399.0 actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360) actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200) 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) 307.0 all_hematologic(112;0.0378) CACATCTGTTGGCAGCTCATC 0.512 0 157.0 151.0 153.0 1 158644382.0 1991.0 4181.0 6172.0 SO:0001583 missense M61877 CCDS41423.1 1q21 2014-06-23 2014-06-23 ENSG00000163554 ENSG00000163554 6708.0 6708.0 """EF-hand domain containing""" 11272.0 protein-coding gene gene with protein product """elliptocytosis 2""" 182860 """spectrin, alpha, erythrocytic 1 (elliptocytosis 2)""" Standard NM_003126 NM_003126 Approved EL2 uc001fst.1 P02549 OTTHUMG00000019636 ENST00000368147.4:c.1196C>T 1.__UNKNOWN__:g.158644382G>A ENSP00000357129:p.Pro399Leu Q15514|Q5VYL1|Q5VYL2|Q6LDY5 __UNKNOWN__ CCDS41423.1 . . . . . . . . . . G 22.3 4.266987 0.80469 . . ENSG00000163554 ENST00000368148;ENST00000368147 T;T 0.36340 1.26;1.26 5.04 5.04 0.67666 . . . . . T 0.48995 0.1531 M 0.86502 2.82 0.58432 D 0.999998 P 0.38167 0.621 P 0.48873 0.593 T 0.54715 -0.8252 9 0.59425 D 0.04 . 15.9402 0.79747 0.0:0.0:1.0:0.0 . 399 P02549 SPTA1_HUMAN L 399 ENSP00000357130:P399L;ENSP00000357129:P399L ENSP00000357129:P399L P - 2 0 SPTA1 156911006 1.000000 0.71417 0.957000 0.39632 0.610000 0.37248 8.673000 0.91186 2.630000 0.89119 0.655000 0.94253 CCA SPTA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051851.3 - ENST00000368147.4 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC PSMD1 5707 broad.mit.edu 37 2 231931688 231931688 + Missense_Mutation SNP C C A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr2:231931688C>A ENST00000308696.6 + 5.0 535 c.373C>A c.(373-375)Cca>Aca p.P125T PSMD1_ENST00000409643.1_Missense_Mutation_p.P125T|PSMD1_ENST00000373635.4_Missense_Mutation_p.P125T NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 125.0 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838) enzyme regulator activity (GO:0030234) breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31.0 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) AGAAAAAAAACCAATTGACCA 0.378 C 1.0 0.0005 0.0028 2184.0 1.0 , , 0.0003 0.0005 1.0 EXOME 0.0003 SNP 0 SO:0001583 missense D44466 CCDS2482.1, CCDS54436.1 2q37.1 2008-05-22 ENSG00000173692 ENSG00000173692 5707.0 5707.0 """Proteasome (prosome, macropain) subunits""" 9554.0 protein-coding gene gene with protein product 8816993 Standard NM_002807 Approved S1, P112, Rpn2 uc002vrn.2 Q99460 OTTHUMG00000133223 ENST00000308696.6:c.373C>A 2.__UNKNOWN__:g.231931688C>A ENSP00000309474:p.Pro125Thr B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79 __UNKNOWN__ CCDS2482.1 1|1 4.578754578754579E-4|4.578754578754579E-4 0|0 0.0|0.0 1|1 0.0027624309392265192|0.0027624309392265192 0|0 0.0|0.0 0|0 0.0|0.0 C|C 12.08|12.08 1.831237|1.831237 0.32329|0.32329 .|. .|. ENSG00000173692|ENSG00000173692 ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643|ENST00000444007 .|. .|. .|. 5.5|5.5 5.5|5.5 0.81552|0.81552 Armadillo-type fold (1);|. 0.247111|. 0.48767|. D|. 0.000178|. T|T 0.54498|0.54498 0.1862|0.1862 L|L 0.27053|0.27053 0.805|0.805 0.44890|0.44890 D|D 0.997903|0.997903 B;B|. 0.02656|. 0.0;0.0|. B;B|. 0.04013|. 0.0;0.001|. T|T 0.49679|0.49679 -0.8914|-0.8914 9|5 0.15499|. T|. 0.54|. -4.9741|-4.9741 15.7122|15.7122 0.77641|0.77641 0.0:0.8631:0.1369:0.0|0.0:0.8631:0.1369:0.0 .|. 125;125|. Q99460;Q99460-2|. PSMD1_HUMAN;.|. T|N 125;125;131;125|24 .|. ENSP00000309474:P125T|. P|T +|+ 1|2 0|0 PSMD1|PSMD1 231639932|231639932 0.990000|0.990000 0.36364|0.36364 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 2.578000|2.578000 0.46051|0.46051 2.565000|2.565000 0.86533|0.86533 0.591000|0.591000 0.81541|0.81541 CCA|ACC PSMD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256958.2 + ENST00000308696.6 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC TRPC6 7225 broad.mit.edu 37 11 101375232 101375232 + Missense_Mutation SNP T T G TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr11:101375232T>G ENST00000532133.1 - 2.0 470 c.468A>C c.(466-468)gaA>gaC p.E156D TRPC6_ENST00000360497.4_Missense_Mutation_p.E156D|TRPC6_ENST00000348423.4_Missense_Mutation_p.E156D|TRPC6_ENST00000344327.3_Missense_Mutation_p.E156D Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 156.0 aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057) inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279) 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) 55.0 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GAGAGAGGTTTTCTTTCTTGA 0.448 Colon(166;1315 1927 11094 12848 34731) 0 66.0 64.0 65.0 11 101375232.0 2203.0 4299.0 6502.0 SO:0001583 missense AJ006276 CCDS8311.1 11q22.1 2014-02-04 ENSG00000137672 7225.0 7225.0 """Voltage-gated ion channels / Transient receptor potential cation channels""" 12338.0 protein-coding gene gene with protein product 603652 """focal segmental glomerulosclerosis 2""" FSGS2 9925922, 16382100, 15879175 Standard NM_004621 NM_004621 Approved TRP6 uc001pgk.4 Q9Y210 ENST00000532133.1:c.468A>C 11.__UNKNOWN__:g.101375232T>G ENSP00000435574:p.Glu156Asp Q52M59|Q9HCW3|Q9NQA8|Q9NQA9 __UNKNOWN__ . . . . . . . . . . T 12.05 1.822268 0.32237 . . ENSG00000137672 ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497 T;T;T;T 0.70869 -0.52;-0.52;-0.52;-0.52 5.84 4.72 0.59763 Ankyrin repeat-containing domain (3); 0.151460 0.64402 D 0.000012 T 0.48021 0.1477 N 0.05510 -0.035 0.42650 D 0.993445 B;B;B 0.23490 0.016;0.086;0.019 B;B;B 0.29942 0.02;0.109;0.034 T 0.33599 -0.9862 10 0.16896 T 0.51 -7.8983 7.7933 0.29133 0.0:0.2329:0.0:0.7671 . 156;156;156 Q9Y210-3;Q9Y210-2;Q9Y210 .;.;TRPC6_HUMAN D 156 ENSP00000340913:E156D;ENSP00000435574:E156D;ENSP00000343672:E156D;ENSP00000353687:E156D ENSP00000340913:E156D E - 3 2 TRPC6 100880442 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 0.642000 0.24735 1.052000 0.40392 0.528000 0.53228 GAA TRPC6-004 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000394771.1 - ENST00000532133.1 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC TAB2 23118 broad.mit.edu 37 6 149718827 149718827 + Missense_Mutation SNP A A C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr6:149718827A>C ENST00000367456.1 + 5.0 2268 c.1691A>C c.(1690-1692)gAg>gCg p.E564A TAB2_ENST00000538427.1_Missense_Mutation_p.E564A|TAB2_ENST00000536230.1_Missense_Mutation_p.E532A|TAB2_ENST00000286332.5_Missense_Mutation_p.E564A Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 564.0 activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886) K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270) breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22.0 TTAAAATCTGAGGTTAATGAA 0.368 0 114.0 128.0 123.0 6 149718827.0 2203.0 4298.0 6501.0 SO:0001583 missense AF241230 CCDS5214.1 6q25.1 2010-08-05 2010-02-05 2010-02-05 ENSG00000055208 ENSG00000055208 23118.0 23118.0 17075.0 protein-coding gene gene with protein product 605101 """mitogen-activated protein kinase kinase kinase 7 interacting protein 2""" MAP3K7IP2 9872452, 10882101 Standard XR_250046 Approved KIAA0733 uc010kib.2 Q9NYJ8 OTTHUMG00000015783 ENST00000367456.1:c.1691A>C 6.__UNKNOWN__:g.149718827A>C ENSP00000356426:p.Glu564Ala B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7 __UNKNOWN__ CCDS5214.1 . . . . . . . . . . A 20.9 4.070414 0.76301 . . ENSG00000055208 ENST00000536230;ENST00000538427;ENST00000367456;ENST00000286332 T;T;T;T 0.24350 1.86;1.86;1.86;1.86 5.06 5.06 0.68205 . 0.000000 0.85682 D 0.000000 T 0.41696 0.1170 M 0.70275 2.135 0.80722 D 1 D;D 0.63880 0.993;0.993 D;D 0.74674 0.984;0.984 T 0.44097 -0.9350 10 0.87932 D 0 -7.311 15.0997 0.72266 1.0:0.0:0.0:0.0 . 532;564 B4DIR9;Q9NYJ8 .;TAB2_HUMAN A 532;564;564;564 ENSP00000443206:E532A;ENSP00000445752:E564A;ENSP00000356426:E564A;ENSP00000286332:E564A ENSP00000286332:E564A E + 2 0 TAB2 149760520 1.000000 0.71417 1.000000 0.80357 0.955000 0.61496 8.780000 0.91799 2.028000 0.59812 0.383000 0.25322 GAG TAB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042633.3 + ENST00000367456.1 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC CEACAM6 4680 broad.mit.edu 37 19 42265395 42265395 + Silent SNP G G A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr19:42265395G>A ENST00000199764.6 + 3.0 881 c.663G>A c.(661-663)gcG>gcA p.A221A AC011513.4_ENST00000601409.1_RNA NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 221.0 Ig-like C2-type 1. cell-cell signaling (GO:0007267)|signal transduction (GO:0007165) anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18.0 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) AGAACCCAGCGAGTGCCAACC 0.542 0 215.0 206.0 209.0 19 42265395.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant M29541 CCDS12585.1 19q13.1-q13.2 2013-01-29 ENSG00000086548 ENSG00000086548 4680.0 4680.0 """CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 1818.0 protein-coding gene gene with protein product 163980 NCA Standard NM_002483 Approved CD66c uc002orm.2 P40199 OTTHUMG00000151064 ENST00000199764.6:c.663G>A 19.__UNKNOWN__:g.42265395G>A Q13774|Q14920|Q53XP7 __UNKNOWN__ CCDS12585.1 CEACAM6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000321147.1 + ENST00000199764.6 Silent SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC KCNC1 3746 broad.mit.edu 37 11 17757753 17757753 + Silent SNP G G C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr11:17757753G>C ENST00000265969.6 + 1.0 1395 c.204G>C c.(202-204)ctG>ctC p.L68L KCNC1_ENST00000379472.3_Silent_p.L68L NM_001112741.1 NP_001106212.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 68.0 potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268) plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249) breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33.0 Dalfampridine(DB06637) CGCACATCCTGAACTACTACC 0.672 0 52.0 48.0 49.0 11 17757753.0 2200.0 4293.0 6493.0 SO:0001819 synonymous_variant M96747 CCDS7827.1, CCDS44547.1 11p15 2012-07-05 ENSG00000129159 ENSG00000129159 3746.0 3746.0 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels""" 6233.0 protein-coding gene gene with protein product 176258 8449507, 16382104 Standard NM_004976 NM_004976 Approved Kv3.1 uc009yhc.1 P48547 OTTHUMG00000166359 ENST00000265969.6:c.204G>C 11.__UNKNOWN__:g.17757753G>C K4DI87 __UNKNOWN__ CCDS44547.1 KCNC1-002 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389388.1 + ENST00000265969.6 Silent SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC MLLT1 4298 broad.mit.edu 37 19 6270667 6270667 + Missense_Mutation SNP G G C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr19:6270667G>C ENST00000252674.7 - 2.0 279 c.116C>G c.(115-117)cCc>cGc p.P39R NM_005934.3 NP_005925.2 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 39.0 YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}. negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023) DNA binding (GO:0003677) endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17.0 ACATTGCTCGGGGCCGCGGAC 0.622 T MLL AL OREG0025198 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) Dom yes 19 19p13.3 4298.0 """myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)""" L 0 119.0 91.0 100.0 19 6270667.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS12160.1 19p13.3 2012-10-04 2001-11-28 ENSG00000130382 ENSG00000130382 4298.0 4298.0 7134.0 protein-coding gene gene with protein product 159556 """myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1""" Standard NM_005934 XM_005259561 Approved ENL, LTG19, YEATS1 uc002mek.3 Q03111 OTTHUMG00000180757 ENST00000252674.7:c.116C>G 19.__UNKNOWN__:g.6270667G>C ENSP00000252674:p.Pro39Arg 632.0 Q14768 __UNKNOWN__ CCDS12160.1 . . . . . . . . . . G 27.2 4.806341 0.90623 . . ENSG00000130382 ENST00000252674 . . . 5.41 5.41 0.78517 . 0.000000 0.85682 D 0.000000 D 0.83801 0.5333 M 0.86805 2.84 0.80722 D 1 D 0.64830 0.994 D 0.70227 0.968 D 0.86473 0.1786 9 0.72032 D 0.01 -18.3509 16.6911 0.85322 0.0:0.0:1.0:0.0 . 39 Q03111 ENL_HUMAN R 39 . ENSP00000252674:P39R P - 2 0 MLLT1 6221667 1.000000 0.71417 0.994000 0.49952 0.971000 0.66376 9.751000 0.98889 2.537000 0.85549 0.561000 0.74099 CCC MLLT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452909.1 - ENST00000252674.7 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC SPHKAP 80309 broad.mit.edu 37 2 228881275 228881275 + Missense_Mutation SNP T T C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr2:228881275T>C ENST00000392056.3 - 7.0 4341 c.4295A>G c.(4294-4296)gAa>gGa p.E1432G SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1432G NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1432.0 extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018) protein kinase A binding (GO:0051018) 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) 185.0 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) CTGATCTGTTTCAATCTGAAT 0.458 0 64.0 67.0 66.0 2 228881275.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS33389.1, CCDS46537.1 2q36.3 2010-08-20 ENSG00000153820 ENSG00000153820 80309.0 80309.0 """A-kinase anchor proteins""" 30619.0 protein-coding gene gene with protein product """sphingosine kinase type 1-interacting protein""" 611646 12080051, 11214970 Standard NM_030623 NM_030623 Approved SKIP uc002vpq.2 Q2M3C7 OTTHUMG00000153584 ENST00000392056.3:c.4295A>G 2.__UNKNOWN__:g.228881275T>C ENSP00000375909:p.Glu1432Gly Q68DA3|Q68DR8|Q9C0I5 __UNKNOWN__ CCDS46537.1 . . . . . . . . . . T 26.2 4.718799 0.89205 . . ENSG00000153820 ENST00000392056;ENST00000344657 T;T 0.19669 2.16;2.13 5.66 5.66 0.87406 . 0.000000 0.85682 D 0.000000 T 0.47358 0.1441 M 0.78637 2.42 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.999;0.997;0.999 T 0.40813 -0.9543 10 0.33141 T 0.24 . 15.0814 0.72117 0.0:0.0:0.0:1.0 . 463;1432;1432 B3KR30;Q2M3C7;Q2M3C7-2 .;SPKAP_HUMAN;. G 1432 ENSP00000375909:E1432G;ENSP00000339886:E1432G ENSP00000339886:E1432G E - 2 0 SPHKAP 228589519 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.529000 0.67135 2.147000 0.66899 0.533000 0.62120 GAA SPHKAP-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000331750.1 - ENST00000392056.3 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC MLPH 79083 broad.mit.edu 37 2 238419387 238419387 + Missense_Mutation SNP G G A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr2:238419387G>A ENST00000410032.1 + 4.0 674 c.281G>A c.(280-282)cGc>cAc p.R94H MLPH_ENST00000338530.4_Missense_Mutation_p.R94H|MLPH_ENST00000264605.3_Missense_Mutation_p.R94H|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.R94H|MLPH_ENST00000409373.1_Missense_Mutation_p.R94H Q9BV36 MELPH_HUMAN melanophilin 94.0 RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}. melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605) cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725) metal ion binding (GO:0046872) NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 25.0 Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203) Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316) AGCTGTGGCCGCGTCCACCCG 0.597 0 43.0 43.0 43.0 2 238419387.0 2203.0 4300.0 6503.0 SO:0001583 missense AY358857 CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1 2q37.2 2014-09-17 ENSG00000115648 ENSG00000115648 79083.0 79083.0 29643.0 protein-coding gene gene with protein product 606526 11980908, 11504925 Standard NM_024101 NM_024101 Approved l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3 uc002vwt.3 Q9BV36 OTTHUMG00000133298 ENST00000410032.1:c.281G>A 2.__UNKNOWN__:g.238419387G>A ENSP00000386338:p.Arg94His B3KSS2|B4DKW7|G5E9G5|Q9HA71 __UNKNOWN__ . . . . . . . . . . G 0.762 -0.769038 0.02974 . . ENSG00000115648 ENST00000422695;ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373 T;T;T;T;T;T 0.76578 -1.03;-1.03;-1.03;-1.03;-1.03;-1.03 4.77 -1.59 0.08453 Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1); 0.458353 0.24970 N 0.034142 T 0.53786 0.1818 N 0.08118 0 0.29815 N 0.831288 B;B;B;B;B;B 0.11235 0.001;0.001;0.0;0.002;0.0;0.004 B;B;B;B;B;B 0.04013 0.0;0.001;0.0;0.001;0.001;0.001 T 0.37820 -0.9689 10 0.23302 T 0.38 -7.7209 12.0521 0.53513 0.1816:0.0:0.8184:0.0 . 94;94;94;94;94;94 B4DKW7;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5 .;.;.;.;MELPH_HUMAN;. H 94 ENSP00000409170:R94H;ENSP00000386338:R94H;ENSP00000264605:R94H;ENSP00000414849:R94H;ENSP00000341845:R94H;ENSP00000386780:R94H ENSP00000264605:R94H R + 2 0 MLPH 238084126 0.240000 0.23847 0.048000 0.18961 0.064000 0.16182 1.125000 0.31332 -0.603000 0.05767 -0.253000 0.11424 CGC MLPH-002 NOVEL basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000328854.1 + ENST00000410032.1 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC NEB 4703 broad.mit.edu 37 2 152466570 152466570 + Missense_Mutation SNP T T C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr2:152466570T>C ENST00000604864.1 - 79.0 12082 c.12083A>G c.(12082-12084)gAt>gGt p.D4028G NEB_ENST00000427231.2_Missense_Mutation_p.D4028G|NEB_ENST00000397345.3_Missense_Mutation_p.D4028G|NEB_ENST00000603639.1_Missense_Mutation_p.D4028G|NEB_ENST00000409198.1_Missense_Mutation_p.D3785G|NEB_ENST00000172853.10_Missense_Mutation_p.D3785G P20929 NEBU_HUMAN nebulin 4027.0 muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018) structural constituent of muscle (GO:0008307) 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) 301.0 BRCA - Breast invasive adenocarcinoma(221;0.219) CTTGGGATCATCTTCAATGCT 0.418 0 151.0 140.0 144.0 2 152466570.0 1910.0 4134.0 6044.0 SO:0001583 missense X83957 CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1 2q22 2014-09-17 ENSG00000183091 ENSG00000183091 4703.0 4703.0 7720.0 protein-coding gene gene with protein product """nemaline myopathy type 2""" 161650 NEM2 10051637, 9359044 Standard NM_004543 NM_001164507 Approved NEB177D uc010fnx.3 P20929 OTTHUMG00000153784 ENST00000604864.1:c.12083A>G 2.__UNKNOWN__:g.152466570T>C ENSP00000474498:p.Asp4028Gly F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8 __UNKNOWN__ CCDS54408.1 . . . . . . . . . . T 28.6 4.938563 0.92526 . . ENSG00000183091 ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853 T;T;T;T 0.68765 -0.35;-0.35;-0.35;-0.35 5.75 5.75 0.90469 . 0.051380 0.85682 D 0.000000 T 0.79052 0.4381 M 0.85630 2.765 0.80722 D 1 P 0.41710 0.76 P 0.49421 0.61 T 0.82476 -0.0438 10 0.87932 D 0 . 16.3473 0.83146 0.0:0.0:0.0:1.0 . 3785 P20929 NEBU_HUMAN G 3785;4028;4028;3785 ENSP00000386259:D3785G;ENSP00000380505:D4028G;ENSP00000416578:D4028G;ENSP00000172853:D3785G ENSP00000172853:D3785G D - 2 0 NEB 152174816 1.000000 0.71417 0.994000 0.49952 0.959000 0.62525 7.948000 0.87774 2.320000 0.78422 0.528000 0.53228 GAT NEB-018 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000469063.1 - ENST00000604864.1 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC JOSD2 126119 broad.mit.edu 37 19 51013652 51013652 + Missense_Mutation SNP T T C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr19:51013652T>C ENST00000598418.1 - 2.0 290 c.37A>G c.(37-39)Acc>Gcc p.T13A JOSD2_ENST00000601423.1_Missense_Mutation_p.T13A|JOSD2_ENST00000595669.1_Missense_Mutation_p.T13A|JOSD2_ENST00000391815.3_Missense_Mutation_p.T13A NM_001270639.1|NM_001270640.1 NP_001257568.1|NP_001257569.1 Q8TAC2 JOS2_HUMAN Josephin domain containing 2 13.0 Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}. protein deubiquitination (GO:0016579) cytoplasm (GO:0005737) omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843) kidney(1)|lung(3)|prostate(1) 5.0 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364) TGGTACACGGTGGGTGGGCTC 0.662 0 80.0 81.0 81.0 19 51013652.0 2203.0 4300.0 6503.0 SO:0001583 missense AF247787 CCDS12797.1, CCDS59413.1 19q13.33 2008-02-05 ENSG00000161677 126119.0 126119.0 28853.0 protein-coding gene gene with protein product 615324 Standard NM_138334 NM_138334 Approved SBBI54 uc031rmi.1 Q8TAC2 ENST00000598418.1:c.37A>G 19.__UNKNOWN__:g.51013652T>C ENSP00000468956:p.Thr13Ala M0QX25 __UNKNOWN__ CCDS12797.1 . . . . . . . . . . T 7.528 0.658159 0.14645 . . ENSG00000161677 ENST00000293431;ENST00000391815 T 0.40225 1.04 3.18 -1.76 0.08006 . 0.520561 0.17288 N 0.179754 T 0.14657 0.0354 N 0.08118 0 0.09310 N 0.999996 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.0 T 0.10543 -1.0625 10 0.22706 T 0.39 -5.7597 0.4217 0.00457 0.3047:0.1902:0.1245:0.3805 . 33;13 Q7Z7N5;Q8TAC2 .;JOS2_HUMAN A 33;13 ENSP00000375691:T13A ENSP00000293431:T33A T - 1 0 JOSD2 55705464 0.018000 0.18449 0.897000 0.35233 0.744000 0.42396 0.394000 0.20834 -0.293000 0.08986 -0.568000 0.04159 ACC JOSD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464902.1 - ENST00000598418.1 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC ANKHD1 54882 broad.mit.edu 37 5 139889715 139889715 + Silent SNP G G A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr5:139889715G>A ENST00000360839.2 + 22.0 4207 c.4053G>A c.(4051-4053)gtG>gtA p.V1351V ANKHD1_ENST00000297183.6_Silent_p.V1351V|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.V1351V NM_017747.2 NP_060217.1 Q8IWZ3 ANKH1_HUMAN ankyrin repeat and KH domain containing 1 1351.0 cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60.0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCTGATGTGGATGCAGCAG 0.423 0 131.0 122.0 125.0 5 139889715.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF521882 CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1 5q31.3 2013-01-10 ENSG00000131503 ENSG00000131503 54882.0 54882.0 """Ankyrin repeat domain containing""" 24714.0 protein-coding gene gene with protein product 610500 10470851, 11230166, 16098192 Standard NM_017747 NM_017747 Approved MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085 Q8IWZ3 OTTHUMG00000161610 ENST00000360839.2:c.4053G>A 5.__UNKNOWN__:g.139889715G>A A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7 __UNKNOWN__ CCDS4225.1 . . . . . . . . . . g 8.994 0.978543 0.18812 . . ENSG00000131503 ENST00000246149 . . . 5.54 2.84 0.33178 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 6.4506 0.21902 0.2006:0.0:0.6727:0.1267 . . . . X 577 . . W + 2 0 ANKHD1 139869899 1.000000 0.71417 1.000000 0.80357 0.977000 0.68977 3.380000 0.52448 0.408000 0.25621 -0.941000 0.02677 TGG ANKHD1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000251672.1 + ENST00000360839.2 Silent SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC EIF5B 9669 broad.mit.edu 37 2 99978277 99978277 + Missense_Mutation SNP G G T TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr2:99978277G>T ENST00000289371.6 + 4.0 1115 c.913G>T c.(913-915)Gca>Tca p.A305S NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 305.0 cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413) cytosol (GO:0005829) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31.0 TCCCACAGCTGCAGAAGGTTG 0.388 Colon(162;2388 2567 2705 3444) 0 78.0 77.0 78.0 2 99978277.0 1846.0 4079.0 5925.0 SO:0001583 missense AF078035 CCDS42721.1 2q11.2 2012-09-20 ENSG00000158417 ENSG00000158417 9669.0 9669.0 30793.0 protein-coding gene gene with protein product """translation initiation factor IF2""" 606086 10200264, 10432305 Standard NM_015904 XM_005264075 Approved IF2, KIAA0741, DKFZp434I036, FLJ10524 uc002tab.3 O60841 OTTHUMG00000153242 ENST00000289371.6:c.913G>T 2.__UNKNOWN__:g.99978277G>T ENSP00000289371:p.Ala305Ser O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7 __UNKNOWN__ CCDS42721.1 . . . . . . . . . . G 7.746 0.702343 0.15172 . . ENSG00000158417 ENST00000289371 T 0.45276 0.9 5.92 0.335 0.15953 . . . . . T 0.24470 0.0593 L 0.29908 0.895 0.09310 N 1 B 0.20052 0.041 B 0.16289 0.015 T 0.20306 -1.0279 8 . . . -0.9202 3.3321 0.07088 0.1526:0.237:0.4886:0.1218 . 305 O60841 IF2P_HUMAN S 305 ENSP00000289371:A305S . A + 1 0 EIF5B 99344709 0.011000 0.17503 0.001000 0.08648 0.996000 0.88848 1.032000 0.30178 0.043000 0.15746 0.655000 0.94253 GCA EIF5B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000330364.2 + ENST00000289371.6 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC MGAT4A 11320 broad.mit.edu 37 2 99256446 99256446 + Missense_Mutation SNP G G A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr2:99256446G>A ENST00000264968.3 - 11.0 1510 c.1147C>T c.(1147-1149)Cca>Tca p.P383S MGAT4A_ENST00000414521.2_Missense_Mutation_p.P255S|MGAT4A_ENST00000393487.1_Missense_Mutation_p.P383S|MGAT4A_ENST00000409391.1_Missense_Mutation_p.P383S Q9UM21 MGT4A_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A 383.0 cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872) NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19.0 AGAAGTAATGGTTTCATATAA 0.343 0 64.0 68.0 67.0 2 99256446.0 2203.0 4300.0 6503.0 SO:0001583 missense AB000616 CCDS2036.1, CCDS54380.1 2q12 2013-02-25 2005-11-16 ENSG00000071073 ENSG00000071073 11320.0 11320.0 2.4.1.145 """Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases""" 7047.0 protein-coding gene gene with protein product 604623 """mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A""" 10024668 Standard NM_012214 NM_001160154 Approved GnT-Iva, GnT-4a uc002sze.3 Q9UM21 OTTHUMG00000130563 ENST00000264968.3:c.1147C>T 2.__UNKNOWN__:g.99256446G>A ENSP00000264968:p.Pro383Ser B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15 __UNKNOWN__ CCDS2036.1 . . . . . . . . . . G 10.51 1.371794 0.24857 . . ENSG00000071073 ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391 T;T;T;T 0.21932 1.99;1.98;1.99;1.99 5.64 5.64 0.86602 . 0.000000 0.85682 D 0.000000 T 0.36082 0.0954 L 0.41079 1.255 0.80722 D 1 P;D 0.89917 0.615;1.0 B;D 0.83275 0.158;0.996 T 0.02781 -1.1111 10 0.08599 T 0.76 -2.1988 18.6821 0.91549 0.0:0.0:1.0:0.0 . 255;383 E9PEN2;Q9UM21 .;MGT4A_HUMAN S 383;255;383;383 ENSP00000377127:P383S;ENSP00000404889:P255S;ENSP00000264968:P383S;ENSP00000386841:P383S ENSP00000264968:P383S P - 1 0 MGAT4A 98622878 1.000000 0.71417 1.000000 0.80357 0.912000 0.54170 6.549000 0.73900 2.656000 0.90262 0.557000 0.71058 CCA MGAT4A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252988.2 - ENST00000264968.3 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC SLC22A5 6584 broad.mit.edu 37 5 131719958 131719958 + Missense_Mutation SNP G G C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr5:131719958G>C ENST00000245407.3 + 3.0 838 c.617G>C c.(616-618)gGc>gCc p.G206A SLC22A5_ENST00000435065.2_Missense_Mutation_p.G230A NM_003060.3 NP_003051.1 O76082 S22A5_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 5 206.0 carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8.0 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661) GTAGGCATGGGCCAGATCTCC 0.483 0 248.0 204.0 219.0 5 131719958.0 2203.0 4300.0 6503.0 SO:0001583 missense AF057164 CCDS4154.1 5q23.3 2013-05-22 2008-01-11 ENSG00000197375 ENSG00000197375 6584.0 6584.0 """Solute carriers""" 10969.0 protein-coding gene gene with protein product 603377 CDSP 9618255, 9916797, 9685390 Standard NM_003060 NM_003060 Approved OCTN2, SCD uc003kww.4 O76082 OTTHUMG00000059634 ENST00000245407.3:c.617G>C 5.__UNKNOWN__:g.131719958G>C ENSP00000245407:p.Gly206Ala A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6 __UNKNOWN__ CCDS4154.1 . . . . . . . . . . G 20.3 3.964156 0.74131 . . ENSG00000197375 ENST00000245407;ENST00000435065;ENST00000415928 T;T;T 0.62639 0.01;0.01;0.01 5.58 5.58 0.84498 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.095987 0.64402 D 0.000001 T 0.69797 0.3151 L 0.39898 1.24 0.49483 D 0.999799 D;D 0.60575 0.988;0.988 P;P 0.61722 0.893;0.893 T 0.62927 -0.6750 10 0.20046 T 0.44 . 19.5713 0.95421 0.0:0.0:1.0:0.0 . 230;206 A2Q0V1;O76082 .;S22A5_HUMAN A 206;230;129 ENSP00000245407:G206A;ENSP00000402760:G230A;ENSP00000388838:G129A ENSP00000245407:G206A G + 2 0 SLC22A5 131747857 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 4.232000 0.58645 2.626000 0.88956 0.655000 0.94253 GGC SLC22A5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000132631.1 + ENST00000245407.3 Missense_Mutation SNP PCPG-TCGA-WB-A81Q-Normal-SM-5EMMC CXXC4 80319 broad.mit.edu 37 4 105412355 105412355 + Missense_Mutation SNP G G C TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr4:105412355G>C ENST00000394767.2 - 2.0 1055 c.605C>G c.(604-606)tCc>tGc p.S202C AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_Missense_Mutation_p.S33C NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 33.0 negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352) cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410) DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270) kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11.0 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) GTGTTCAGGGGATAAGGTGGA 0.562 0 139.0 153.0 149.0 4 105412355.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS3665.1, CCDS3665.2 4q22-q24 2014-02-18 2011-12-01 ENSG00000168772 ENSG00000168772 80319.0 80319.0 24593.0 protein-coding gene gene with protein product """Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)""" 611645 11113207 Standard NM_025212 NM_025212 Approved IDAX uc003hxf.2 Q9H2H0 OTTHUMG00000131121 ENST00000394767.2:c.605C>G 4.__UNKNOWN__:g.105412355G>C ENSP00000378248:p.Ser202Cys __UNKNOWN__ CCDS3665.2 . . . . . . . . . . G 14.32 2.499106 0.44455 . . ENSG00000168772 ENST00000394767;ENST00000426831 . . . 3.07 3.07 0.35406 . 0.126753 0.49916 D 0.000133 T 0.36991 0.0987 N 0.08118 0 0.45995 D 0.9988 B 0.23442 0.085 B 0.28784 0.094 T 0.33189 -0.9878 9 0.48119 T 0.1 -5.7922 11.3241 0.49438 0.0:0.1858:0.8142:0.0 . 33 Q9H2H0 CXXC4_HUMAN C 33 . ENSP00000378248:S33C S - 2 0 CXXC4 105631804 1.000000 0.71417 1.000000 0.80357 0.985000 0.73830 6.251000 0.72441 1.747000 0.51819 0.298000 0.19748 TCC CXXC4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253799.3 - ENST00000394767.2 Missense_Mutation SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW RFWD3 55159 broad.mit.edu 37 16 74695298 74695298 + Missense_Mutation SNP G G A TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr16:74695298G>A ENST00000361070.4 - 2.0 147 c.50C>T c.(49-51)gCc>gTc p.A17V RFWD3_ENST00000571750.1_Missense_Mutation_p.A17V NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 17.0 DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212) cytoplasm (GO:0005737)|nucleus (GO:0005634) ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26.0 CTGTTGTTCGGCATGATTTAA 0.478 0 126.0 135.0 132.0 16 74695298.0 2198.0 4299.0 6497.0 SO:0001583 missense AK001382 CCDS32486.1 16q22.3 2013-01-09 55159.0 55159.0 """WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers""" 25539.0 protein-coding gene gene with protein product 614151 21504906 Standard NM_018124 XM_005256021 Approved FLJ10520, RNF201 uc002fda.3 Q6PCD5 ENST00000361070.4:c.50C>T 16.__UNKNOWN__:g.74695298G>A ENSP00000354361:p.Ala17Val A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4 __UNKNOWN__ CCDS32486.1 . . . . . . . . . . G 10.09 1.254103 0.22965 . . ENSG00000168411 ENST00000361070;ENST00000444004 T 0.20200 2.09 4.21 2.21 0.28008 . 3.651800 0.00654 N 0.000564 T 0.15869 0.0382 L 0.29908 0.895 0.09310 N 1 B 0.10296 0.003 B 0.08055 0.003 T 0.22138 -1.0225 10 0.12430 T 0.62 -13.0752 5.9006 0.18964 0.1042:0.1942:0.7016:0.0 . 17 Q6PCD5 RFWD3_HUMAN V 17 ENSP00000354361:A17V ENSP00000354361:A17V A - 2 0 RFWD3 73252799 0.003000 0.15002 0.003000 0.11579 0.009000 0.06853 0.414000 0.21164 0.700000 0.31782 0.655000 0.94253 GCC RFWD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000436506.2 - ENST00000361070.4 Missense_Mutation SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW FAM83D 81610 broad.mit.edu 37 20 37580459 37580459 + Missense_Mutation SNP G G A TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr20:37580459G>A ENST00000217429.4 + 4.0 1185 c.1144G>A c.(1144-1146)Gca>Aca p.A382T NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 352.0 mitotic nuclear division (GO:0007067) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28.0 Myeloproliferative disorder(115;0.00878) AGAGATGCCCGCAGAGGGCAA 0.602 0 50.0 56.0 54.0 20 37580459.0 2065.0 4194.0 6259.0 SO:0001583 missense AL023803 CCDS42872.1 20q11.23 2014-03-13 2006-03-23 2006-03-23 ENSG00000101447 ENSG00000101447 81610.0 81610.0 16122.0 protein-coding gene gene with protein product """chromosome 20 open reading frame 129""" C20orf129 23205133 Standard NM_030919 Approved dJ616B8.3 uc002xjg.3 Q9H4H8 OTTHUMG00000032462 ENST00000217429.4:c.1144G>A 20.__UNKNOWN__:g.37580459G>A ENSP00000217429:p.Ala382Thr B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8 __UNKNOWN__ CCDS42872.1 . . . . . . . . . . G 6.313 0.425903 0.11987 . . ENSG00000101447 ENST00000217429;ENST00000424027 T 0.12039 2.72 5.7 -7.64 0.01286 . 1.702460 0.02840 N 0.127853 T 0.10809 0.0264 L 0.54323 1.7 0.09310 N 1 B 0.10296 0.003 B 0.06405 0.002 T 0.26121 -1.0112 10 0.30078 T 0.28 . 2.9737 0.05930 0.3429:0.2534:0.3191:0.0847 . 352 Q9H4H8 FA83D_HUMAN T 382;336 ENSP00000217429:A382T ENSP00000217429:A382T A + 1 0 FAM83D 37013873 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.213000 0.09305 -1.258000 0.02471 -1.224000 0.01588 GCA FAM83D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079211.1 + ENST00000217429.4 Missense_Mutation SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW GRIP2 80852 broad.mit.edu 37 3 14536429 14536429 + RNA SNP T T C TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr3:14536429T>C ENST00000273083.3 - 0.0 2956 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission (GO:0007268) cytosol (GO:0005829)|plasma membrane (GO:0005886) endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25.0 CATAGACACCTTTTTCCAGGA 0.612 0 96.0 99.0 98.0 3 14536429.0 2047.0 4183.0 6230.0 AB051506 3p24-p23 2012-02-08 ENSG00000144596 ENSG00000144596 80852.0 80852.0 23841.0 protein-coding gene gene with protein product Standard NM_001080423 NM_001080423 Approved KIAA1719 uc021wtn.1 Q9C0E4 OTTHUMG00000155544 ENST00000273083.3: 3.__UNKNOWN__:g.14536429T>C Q8TEH9|Q9H7H3 __UNKNOWN__ GRIP2-001 KNOWN basic processed_transcript processed_transcript OTTHUMT00000340582.2 - ENST00000273083.3 RNA SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW OR5K1 26339 broad.mit.edu 37 3 98188581 98188581 + Missense_Mutation SNP G G A TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr3:98188581G>A ENST00000332650.5 + 1.0 258 c.161G>A c.(160-162)cGg>cAg p.R54Q NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 54.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30.0 ACACACCGTCGGCTTCACACA 0.453 0 G GLN/ARG 1,4405 2.1+/-5.4 0,1,2202 270.0 267.0 268.0 161 -8.0 0.0 3 268.0 0,8598 0,0,4299 no missense OR5K1 NM_001004736.2 43 0,1,6501 AA,AG,GG 0.0,0.0227,0.0077 benign 54/309 98188581.0 1,13003 2203.0 4299.0 6502.0 SO:0001583 missense X64984 CCDS43115.1 3q11.2 2013-09-23 ENSG00000232382 ENSG00000232382 26339.0 26339.0 """GPCR / Class A : Olfactory receptors""" 8349.0 protein-coding gene gene with protein product 1370859 Standard NM_001004736 Approved HTPCRX10, HSHTPCRX10 uc003dsm.3 Q8NHB7 OTTHUMG00000160048 ENST00000332650.5:c.161G>A 3.__UNKNOWN__:g.98188581G>A ENSP00000373193:p.Arg54Gln B9EGY5|Q6IF46 __UNKNOWN__ CCDS43115.1 . . . . . . . . . . G 9.684 1.149967 0.21371 2.27E-4 0.0 ENSG00000232382 ENST00000332650 T 0.00583 6.41 5.18 -7.99 0.01131 GPCR, rhodopsin-like superfamily (1); 1.333180 0.05325 N 0.527211 T 0.00384 0.0012 N 0.25031 0.7 0.09310 N 1 B 0.25850 0.136 B 0.14023 0.01 T 0.44375 -0.9332 10 0.25751 T 0.34 1.2397 4.8465 0.13516 0.5597:0.0968:0.2457:0.0978 . 54 Q8NHB7 OR5K1_HUMAN Q 54 ENSP00000373193:R54Q ENSP00000373193:R54Q R + 2 0 OR5K1 99671271 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -2.050000 0.01404 -1.476000 0.01874 -3.439000 0.00036 CGG OR5K1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359019.1 + ENST00000332650.5 Missense_Mutation SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW ZNF672 79894 broad.mit.edu 37 1 249141581 249141581 + Silent SNP C C T TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr1:249141581C>T ENST00000306562.3 + 4.0 854 c.108C>T c.(106-108)caC>caT p.H36H NM_024836.1 NP_079112.1 Q499Z4 ZN672_HUMAN zinc finger protein 672 36.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(2)|kidney(2)|large_intestine(1) 5.0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) AACGAGCTCACGGCGGTGACG 0.642 0 40.0 33.0 36.0 1 249141581.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK027476 CCDS1638.1 1q44 2013-01-08 ENSG00000171161 ENSG00000171161 79894.0 79894.0 """Zinc fingers, C2H2-type""" 26179.0 protein-coding gene gene with protein product """hypothetical protein FLJ22301""" 12477932 Standard NM_024836 NM_024836 Approved FLJ22301 uc001iex.3 Q499Z4 OTTHUMG00000040377 ENST00000306562.3:c.108C>T 1.__UNKNOWN__:g.249141581C>T Q96H65|Q96IM3|Q9H6G5 __UNKNOWN__ CCDS1638.1 ZNF672-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097125.2 + ENST00000306562.3 Silent SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW IQCH 64799 broad.mit.edu 37 15 67677304 67677304 + Missense_Mutation SNP C C T TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr15:67677304C>T ENST00000335894.4 + 11.0 1469 c.1403C>T c.(1402-1404)gCc>gTc p.A468V IQCH_ENST00000360277.4_Missense_Mutation_p.A220V|IQCH_ENST00000358767.3_Missense_Mutation_p.A295V|IQCH_ENST00000546225.1_Missense_Mutation_p.A216V NM_001031715.2 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H 468.0 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33.0 Colorectal(3;0.0856) GAACATATTGCCGATTTCAAC 0.408 0 322.0 306.0 311.0 15 67677304.0 2201.0 4299.0 6500.0 SO:0001583 missense AY014282 CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1 15q23 2005-10-24 ENSG00000103599 ENSG00000103599 64799.0 64799.0 25721.0 protein-coding gene gene with protein product 612523 12477932 Standard NM_022784 NM_022784 Approved FLJ12476 uc002aqo.2 Q86VS3 OTTHUMG00000133231 ENST00000335894.4:c.1403C>T 15.__UNKNOWN__:g.67677304C>T ENSP00000336861:p.Ala468Val A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88 __UNKNOWN__ CCDS32273.1 . . . . . . . . . . C 16.96 3.264917 0.59431 . . ENSG00000103599 ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277 T;T;T;T 0.44083 0.93;0.94;0.93;0.93 6.04 -2.79 0.05841 . 1.016690 0.07836 N 0.962207 T 0.20292 0.0488 N 0.16478 0.41 0.09310 N 1 B;B;B 0.14438 0.001;0.001;0.01 B;B;B 0.12837 0.003;0.003;0.008 T 0.19844 -1.0293 10 0.29301 T 0.29 -14.7469 1.4529 0.02379 0.2765:0.3571:0.1813:0.1851 . 216;220;468 Q86VS3-2;Q86VS3-4;Q86VS3 .;.;IQCH_HUMAN V 295;216;468;220 ENSP00000351617:A295V;ENSP00000444118:A216V;ENSP00000336861:A468V;ENSP00000353419:A220V ENSP00000336861:A468V A + 2 0 IQCH 65464358 0.000000 0.05858 0.000000 0.03702 0.917000 0.54804 0.088000 0.14979 -0.333000 0.08476 0.563000 0.77884 GCC IQCH-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256969.1 + ENST00000335894.4 Missense_Mutation SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr11:533874T>C ENST00000451590.1 - 3.0 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R NM_001130442.1|NM_005343.2 NP_001123914.1|NP_005334.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61.0 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022) p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901.0 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6.0 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) yes Dom yes Costello syndrome 11 11p15.5 3265.0 v-Ha-ras Harvey rat sarcoma viral oncogene homolog """E, L, M""" 256 Substitution - Missense(256) skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1) 117.0 102.0 107.0 11 533874.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Facio-Cutaneous-Skeletal syndrome AJ437024 CCDS7698.1, CCDS7699.1 11p15.5 2014-09-17 2013-07-08 ENSG00000174775 ENSG00000174775 3265.0 3265.0 5173.0 protein-coding gene gene with protein product 190020 """v-Ha-ras Harvey rat sarcoma viral oncogene homolog""" HRAS1 Standard NM_176795 NM_176795 Approved uc010qvx.2 P01112 OTTHUMG00000131919 ENST00000451590.1:c.182A>G 11.__UNKNOWN__:g.533874T>C ENSP00000407586:p.Gln61Arg B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2 __UNKNOWN__ CCDS7698.1 . . . . . . . . . . T 14.48 2.546606 0.45383 . . ENSG00000174775 ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189 D;D;D;D;D 0.83673 -1.75;-1.75;-1.75;-1.75;-1.75 3.64 3.64 0.41730 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85613 0.5737 M 0.90870 3.155 0.80722 D 1 B;B 0.21071 0.051;0.008 B;B 0.22152 0.022;0.038 D 0.85970 0.1476 10 0.66056 D 0.02 . 11.8872 0.52608 0.0:0.0:0.0:1.0 . 61;61 P01112-2;P01112 .;RASH_HUMAN R 61 ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R ENSP00000309845:Q61R Q - 2 0 HRAS 523874 1.000000 0.71417 0.985000 0.45067 0.482000 0.33219 7.727000 0.84838 1.662000 0.50781 0.459000 0.35465 CAG HRAS-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259403.2 - ENST00000451590.1 Missense_Mutation SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW NUDT6 11162 broad.mit.edu 37 4 123843575 123843575 + Silent SNP G G A TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr4:123843575G>A ENST00000304430.5 - 1.0 186 c.153C>T c.(151-153)gaC>gaT p.D51D NUDT6_ENST00000339154.2_Intron NM_007083.4 NP_009014.2 P53370 NUDT6_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 6 51.0 mitochondrion (GO:0005739)|nucleus (GO:0005634) growth factor activity (GO:0008083)|hydrolase activity (GO:0016787) endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1) 6.0 CCCCGAATCTGTCCAGCTCGC 0.711 0 20.0 26.0 24.0 4 123843575.0 2023.0 4162.0 6185.0 SO:0001819 synonymous_variant AF019632 CCDS3729.1, CCDS43268.1 4q26 2011-02-21 ENSG00000170917 ENSG00000170917 11162.0 11162.0 """Nudix motif containing""" 8053.0 protein-coding gene gene with protein product 606261 7984147, 10022609 Standard NM_007083 NM_198041 Approved gfg-1, gfg, FGF2AS, FGF-AS uc003iew.3 P53370 OTTHUMG00000039507 ENST00000304430.5:c.153C>T 4.__UNKNOWN__:g.123843575G>A A8K756|O95097|Q9UQD9 __UNKNOWN__ CCDS43268.1 . . . . . . . . . . G 11.86 1.764954 0.31228 . . ENSG00000170917 ENST00000510735 . . . 4.64 1.83 0.25207 . . . . . T 0.55065 0.1897 . . . 0.80722 D 1 . . . . . . T 0.47262 -0.9131 4 . . . -20.0274 7.3545 0.26711 0.1627:0.1386:0.6987:0.0 . . . . I 8 . . T - 2 0 NUDT6 124063025 1.000000 0.71417 0.997000 0.53966 0.900000 0.52787 2.302000 0.43637 0.543000 0.28864 0.561000 0.74099 ACA NUDT6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000095331.3 - ENST00000304430.5 Silent SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW CLPTM1L 81037 broad.mit.edu 37 5 1325911 1325911 + Silent SNP T T C TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr5:1325911T>C ENST00000320895.5 - 10.0 1358 c.1101A>G c.(1099-1101)gcA>gcG p.A367A CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000507807.1_Silent_p.A198A|CLPTM1L_ENST00000320927.6_Silent_p.A331A NM_030782.3 NP_110409.2 Q96KA5 CLP1L_HUMAN CLPTM1-like 367.0 apoptotic process (GO:0006915) integral component of membrane (GO:0016021)|membrane (GO:0016020) 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) 24.0 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) TCATCTTCAATGCCTTCTTCA 0.458 0 114.0 119.0 117.0 5 1325911.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK027306 CCDS3862.1 5p15.33 2008-02-05 ENSG00000049656 ENSG00000049656 81037.0 81037.0 24308.0 protein-coding gene gene with protein product """cisplatin resistance related protein""" 612585 11162647 Standard NM_030782 NM_030782 Approved FLJ14400, CRR9 uc003jch.3 Q96KA5 OTTHUMG00000131015 ENST00000320895.5:c.1101A>G 5.__UNKNOWN__:g.1325911T>C D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4 __UNKNOWN__ CCDS3862.1 CLPTM1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253649.2 - ENST00000320895.5 Silent SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW CSTL1 128817 broad.mit.edu 37 20 23420947 23420947 + Missense_Mutation SNP G G A TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr20:23420947G>A ENST00000246020.2 + 1.0 63 c.43G>A c.(43-45)Gcc>Acc p.A15T CSTL1_ENST00000472140.1_3'UTR|CSTL1_ENST00000347397.1_Missense_Mutation_p.A15T Q9H114 CST1L_HUMAN cystatin-like 1 15.0 extracellular region (GO:0005576) cysteine-type endopeptidase inhibitor activity (GO:0004869) breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1) 14.0 Colorectal(13;0.0993)|Lung NSC(19;0.235) GCTGCTGATTGCCCTGGTCCT 0.537 0 112.0 95.0 101.0 20 23420947.0 2203.0 4300.0 6503.0 SO:0001583 missense AL096677 CCDS13153.1 20p11.21 2012-08-14 ENSG00000125823 ENSG00000125823 128817.0 128817.0 15958.0 protein-coding gene gene with protein product 20565543 Standard NM_138283 Approved dJ322G13.4, CTES1 uc002wte.3 Q9H114 OTTHUMG00000032068 ENST00000246020.2:c.43G>A 20.__UNKNOWN__:g.23420947G>A ENSP00000246020:p.Ala15Thr Q17RA8|Q64FF7 __UNKNOWN__ CCDS13153.1 . . . . . . . . . . G 7.002 0.554993 0.13436 . . ENSG00000125823 ENST00000347397;ENST00000246020 T;T 0.11712 2.75;2.75 4.33 2.33 0.28932 . 0.584090 0.15544 N 0.256780 T 0.05410 0.0143 N 0.14661 0.345 0.09310 N 1 B 0.28082 0.2 B 0.28385 0.089 T 0.41324 -0.9515 10 0.21540 T 0.41 -3.0435 5.1787 0.15148 0.1045:0.0:0.692:0.2035 . 15 Q9H114 CST1L_HUMAN T 15 ENSP00000344907:A15T;ENSP00000246020:A15T ENSP00000246020:A15T A + 1 0 CSTL1 23368947 0.000000 0.05858 0.004000 0.12327 0.122000 0.20287 -0.078000 0.11375 0.732000 0.32470 0.655000 0.94253 GCC CSTL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078328.1 + ENST00000246020.2 Missense_Mutation SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW PEX5 5830 broad.mit.edu 37 12 7360370 7360370 + Missense_Mutation SNP C C T TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr12:7360370C>T ENST00000455147.2 + 12.0 1662 c.1082C>T c.(1081-1083)gCt>gTt p.A361V PEX5_ENST00000266563.5_Missense_Mutation_p.A324V|PEX5_ENST00000434354.2_Missense_Mutation_p.A376V|PEX5_ENST00000412720.2_Missense_Mutation_p.A382V|PEX5_ENST00000266564.3_Missense_Mutation_p.A353V|PEX5_ENST00000420616.2_Missense_Mutation_p.A361V NM_001131026.1 NP_001124498.1 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 361.0 cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234) enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21.0 TTTGAGGCAGCTGTGCAGCAG 0.547 0 126.0 122.0 124.0 12 7360370.0 2203.0 4300.0 6503.0 SO:0001583 missense U19721 CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1 12p 2013-01-10 2004-03-17 2004-03-19 ENSG00000139197 5830.0 5830.0 """Tetratricopeptide (TTC) repeat domain containing""" 9719.0 protein-coding gene gene with protein product 600414 """peroxisome receptor 1""" PXR1 Standard NM_000319 NM_000319 Approved PTS1R uc010sgc.2 P50542 ENST00000455147.2:c.1082C>T 12.__UNKNOWN__:g.7360370C>T ENSP00000400647:p.Ala361Val A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7 __UNKNOWN__ CCDS44823.1 . . . . . . . . . . C 31 5.066753 0.93898 . . ENSG00000139197 ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000266564 T;T;T;T;T;T;T 0.74106 -0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81 4.95 4.95 0.65309 Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1); 0.051122 0.85682 D 0.000000 D 0.86079 0.5847 M 0.79614 2.46 0.80722 D 1 D;D;D;D;D 0.89917 0.978;1.0;1.0;0.98;0.99 B;P;D;P;P 0.67231 0.421;0.891;0.95;0.657;0.657 D 0.87909 0.2696 10 0.87932 D 0 . 18.3744 0.90431 0.0:1.0:0.0:0.0 . 382;376;361;353;324 B4E0T2;B4DZ45;P50542;P50542-3;P50542-2 .;.;PEX5_HUMAN;.;. V 361;324;376;361;382;331;353 ENSP00000400647:A361V;ENSP00000266563:A324V;ENSP00000407401:A376V;ENSP00000410159:A361V;ENSP00000391601:A382V;ENSP00000379877:A331V;ENSP00000266564:A353V ENSP00000266563:A324V A + 2 0 PEX5 7251637 1.000000 0.71417 0.569000 0.28460 0.997000 0.91878 5.810000 0.69179 2.572000 0.86782 0.491000 0.48974 GCT PEX5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398611.1 + ENST00000455147.2 Missense_Mutation SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW DIDO1 11083 broad.mit.edu 37 20 61511023 61511023 + Silent SNP G G T TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr20:61511023G>T ENST00000266070.4 - 16.0 6610 c.6285C>A c.(6283-6285)ccC>ccA p.P2095P DIDO1_ENST00000395343.1_Silent_p.P2095P NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 2095.0 apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) 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) 99.0 Breast(26;5.68e-08) GCTTCTCTTTGGGCCCCACGT 0.657 Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) 0 88.0 103.0 98.0 20 61511023.0 2185.0 4264.0 6449.0 SO:0001819 synonymous_variant AB002331 CCDS13508.2, CCDS13509.1, CCDS33506.1 20q13.33 2013-01-28 2005-11-11 2005-11-11 ENSG00000101191 ENSG00000101191 11083.0 11083.0 """Zinc fingers, PHD-type""" 2680.0 protein-coding gene gene with protein product 604140 """chromosome 20 open reading frame 158"", ""death associated transcription factor 1""" C20orf158, DATF1 10393935 Standard NM_080796 NM_033081 Approved DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1 uc002ydr.2 Q9BTC0 OTTHUMG00000032945 ENST00000266070.4:c.6285C>A 20.__UNKNOWN__:g.61511023G>T A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6 __UNKNOWN__ CCDS33506.1 DIDO1-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000080091.2 - ENST00000266070.4 Silent SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW APC2 10297 broad.mit.edu 37 19 1453055 1453055 + Missense_Mutation SNP A A G TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr19:1453055A>G ENST00000535453.1 + 1.0 1768 c.55A>G c.(55-57)Aag>Gag p.K19E APC2_ENST00000238483.4_Missense_Mutation_p.K19E|APC2_ENST00000233607.2_Missense_Mutation_p.K19E P02655 APOC2_HUMAN adenomatosis polyposis coli 2 0.0 cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372) chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361) lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803) breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18.0 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGGCCTTGAAGGCTGAGAA 0.622 0 38.0 34.0 36.0 19 1453055.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS12068.1 19p13.3 2013-02-14 ENSG00000115266 ENSG00000115266 10297.0 10297.0 """Armadillo repeat containing""" 24036.0 protein-coding gene gene with protein product """adenomatous polyposis coli like""" 612034 9823329, 10021369 Standard NM_005883 XM_005259475 Approved APCL uc002lsr.1 O95996 ENST00000535453.1:c.55A>G 19.__UNKNOWN__:g.1453055A>G ENSP00000442954:p.Lys19Glu C0JYY4|Q9BS39|Q9UDE3|Q9UNK3 __UNKNOWN__ CCDS12068.1 . . . . . . . . . . A 16.83 3.230783 0.58777 . . ENSG00000115266 ENST00000233607;ENST00000238483;ENST00000535453 T;T;T 0.20200 2.09;2.09;2.09 4.75 3.69 0.42338 . 0.236252 0.37348 N 0.002127 T 0.15219 0.0367 L 0.32530 0.975 0.19300 N 0.999972 B;B 0.33807 0.426;0.3 B;B 0.31101 0.124;0.058 T 0.13176 -1.0519 10 0.72032 D 0.01 -34.8656 9.4373 0.38646 0.8202:0.1798:0.0:0.0 . 19;19 O95996-3;O95996 .;APC2_HUMAN E 19 ENSP00000233607:K19E;ENSP00000238483:K19E;ENSP00000442954:K19E ENSP00000233607:K19E K + 1 0 APC2 1404055 1.000000 0.71417 1.000000 0.80357 0.975000 0.68041 2.074000 0.41529 0.623000 0.30267 0.379000 0.24179 AAG APC2-004 KNOWN NAGNAG_splice_site|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000449539.2 + ENST00000535453.1 Missense_Mutation SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW HERC2P3 0 broad.mit.edu 37 15 20644024 20644024 + RNA SNP G G A TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr15:20644024G>A ENST00000428453.1 - 0.0 3435 Q9BVR0 HRC23_HUMAN hect domain and RLD 2 pseudogene 3 metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35.0 ACCGCCATGAGGCCCCCCACT 0.602 0 29.0 23.0 25.0 15 20644024.0 2190.0 4265.0 6455.0 AF041081 15q11.2 2010-08-02 ENSG00000180229 ENSG00000180229 283755.0 283755.0 4871.0 pseudogene pseudogene 9730612 Standard NG_008269 NR_036432 Approved D15F37S4, LOC283755 uc001ytg.3 Q9BVR0 OTTHUMG00000157175 ENST00000428453.1: 15.__UNKNOWN__:g.20644024G>A __UNKNOWN__ HERC2P3-014 KNOWN basic processed_transcript pseudogene OTTHUMT00000347772.2 - ENST00000428453.1 RNA SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW UGT1A4 0 broad.mit.edu 37 2 234627834 234627834 + Missense_Mutation SNP C C T TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr2:234627834C>T ENST00000373409.3 + 1.0 411 c.368C>T c.(367-369)gCc>gTc p.A123V UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron NM_007120.2 NP_009051.1 P22310 UD14_HUMAN UDP glucuronosyltransferase 1 family, polypeptide A4 123.0 cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803) autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26.0 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) Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313) GTATCTTTGGCCCTTCATAGG 0.443 Melanoma(99;1011 1962 13201 26492) 0 211.0 209.0 209.0 2 234627834.0 2203.0 4300.0 6503.0 SO:0001583 missense M84128 CCDS33405.1 2q37.1 2014-01-10 2005-07-20 ENSG00000244474 ENSG00000244474 54657.0 54657.0 """UDP glucuronosyltransferases""" 12536.0 other complex locus constituent 606429 """UDP glycosyltransferase 1 family, polypeptide A4""" 9295054, 1339448 Standard NM_007120 NM_007120 Approved HUG-BR2, UGT1D uc002vux.3 P22310 OTTHUMG00000059119 ENST00000373409.3:c.368C>T 2.__UNKNOWN__:g.234627834C>T ENSP00000362508:p.Ala123Val B2R937|B8K288|Q5DT00 __UNKNOWN__ CCDS33405.1 . . . . . . . . . . c 4.608 0.112925 0.08831 . . ENSG00000244474 ENST00000373409 T 0.58210 0.35 4.16 0.0178 0.14113 . . . . . T 0.22282 0.0537 N 0.04335 -0.225 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.04013 0.0;0.001 T 0.15694 -1.0428 9 0.17832 T 0.49 . 1.9189 0.03303 0.1267:0.1715:0.1309:0.5709 . 123;123 B8K288;P22310 .;UD14_HUMAN V 123 ENSP00000362508:A123V ENSP00000362508:A123V A + 2 0 UGT1A4 234292573 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.084000 0.03393 -0.714000 0.04975 -1.853000 0.00566 GCC UGT1A4-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS protein_coding protein_coding OTTHUMT00000130984.1 + ENST00000373409.3 Missense_Mutation SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW DUSP15 128853 broad.mit.edu 37 20 30436706 30436706 + Splice_Site SNP C C A TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr20:30436706C>A ENST00000278979.3 - 9.0 705 c.629G>T c.(628-630)gGa>gTa p.G210V Q9H1R2 DUS15_HUMAN dual specificity phosphatase 15 210.0 positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) large_intestine(1)|lung(4)|pancreas(1)|stomach(1) 7.0 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CGGTGACCATCCTGCAGGTGG 0.577 0 28.0 29.0 29.0 20 30436706.0 876.0 1991.0 2867.0 SO:0001630 splice_region_variant CCDS13193.1, CCDS42862.1 20q11.21 2011-06-09 2005-03-09 ENSG00000149599 ENSG00000149599 128853.0 128853.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases""" 16236.0 protein-coding gene gene with protein product """dual specificity phosphatase-like 15""" 15138252 Standard NM_080611 NM_080611 Approved bA243J16.6, VHY uc002wwx.1 Q9H1R2 OTTHUMG00000032182 ENST00000278979.3:c.629-1G>T 20.__UNKNOWN__:g.30436706C>A A6NH79|A8MVC8|Q5QP62|Q5QP63|Q5QP65|Q6PGN7|Q8N826|Q9BX24 __UNKNOWN__ .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 9.590|9.590 1.125938|1.125938 0.20959|0.20959 .|. .|. ENSG00000149599|ENSG00000149599 ENST00000447647|ENST00000278979 .|D .|0.95885 .|-3.84 3.6|3.6 0.188|0.188 0.15114|0.15114 .|SMAD/FHA domain (1); .|. .|. .|. .|. D|D 0.90352|0.90352 0.6981|0.6981 .|. .|. .|. 0.09310|0.09310 N|N 1|1 .|B .|0.12630 .|0.006 .|B .|0.14578 .|0.011 T|T 0.81771|0.81771 -0.0780|-0.0780 4|8 .|0.51188 .|T .|0.08 .|. 5.2441|5.2441 0.15487|0.15487 0.0:0.3389:0.4458:0.2153|0.0:0.3389:0.4458:0.2153 .|. .|210 .|Q9H1R2 .|DUS15_HUMAN Y|V 8|210 .|ENSP00000278979:G210V .|ENSP00000278979:G210V D|G -|- 1|2 0|0 DUSP15|DUSP15 29900367|29900367 0.001000|0.001000 0.12720|0.12720 0.076000|0.076000 0.20297|0.20297 0.039000|0.039000 0.13416|0.13416 0.108000|0.108000 0.15396|0.15396 0.310000|0.310000 0.22990|0.22990 0.462000|0.462000 0.41574|0.41574 GAT|GGA DUSP15-004 KNOWN basic protein_coding protein_coding OTTHUMT00000078555.3 Missense_Mutation - ENST00000278979.3 Splice_Site SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW APBB1 322 broad.mit.edu 37 11 6422898 6422898 + Missense_Mutation SNP C C T rs139600801 TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr11:6422898C>T ENST00000609360.1 - 10.0 1508 c.1409G>A c.(1408-1410)cGt>cAt p.R470H APBB1_ENST00000311051.3_Missense_Mutation_p.R468H|APBB1_ENST00000609331.1_Missense_Mutation_p.R235H|APBB1_ENST00000530885.1_Missense_Mutation_p.R248H|APBB1_ENST00000299402.6_Missense_Mutation_p.R468H|APBB1_ENST00000608394.1_Missense_Mutation_p.R211H|APBB1_ENST00000389906.2_Missense_Mutation_p.R470H|APBB1_ENST00000608655.1_Missense_Mutation_p.R250H|APBB1_ENST00000608704.1_Missense_Mutation_p.R211H|APBB1_ENST00000529519.1_De_novo_Start_OutOfFrame|APBB1_ENST00000608645.1_Missense_Mutation_p.R211H NM_001164.3 NP_001155.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 470.0 PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}. apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202) beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24.0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CAGCTTATCACGAGCTACGTA 0.597 C 1.0 0.0005 2184.0 1.0 , , 0.0003 0.0013 0.0004 0.95 EXOME 0.0027 SNP GBM(147;1810 2556 5672 39622) 0 C HIS/ARG,HIS/ARG 0,4402 0,0,2201 170.0 118.0 136.0 1409,1403 4.2 1.0 11 dbSNP_134 136.0 2,8590 2.2+/-6.3 0,2,4294 yes missense,missense APBB1 NM_001164.2,NM_145689.1 29,29 0,2,6495 TT,TC,CC 0.0233,0.0,0.0154 probably-damaging,probably-damaging 470/711,468/709 6422898.0 2,12992 2201.0 4296.0 6497.0 SO:0001583 missense L77864 CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1 11p15 2008-02-01 ENSG00000166313 322.0 322.0 581.0 protein-coding gene gene with protein product 602709 RIR 8955346, 8894693 Standard NM_001164 NM_001164 Approved Fe65 uc001mcy.1 O00213 ENST00000609360.1:c.1409G>A 11.__UNKNOWN__:g.6422898C>T ENSP00000477213:p.Arg470His A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4 __UNKNOWN__ 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 C 19.38 3.816055 0.70912 0.0 2.33E-4 ENSG00000166313 ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407 T;T;T;T;T 0.18338 2.22;2.22;2.22;2.22;2.22 4.15 4.15 0.48705 . 0.000000 0.64402 D 0.000007 T 0.37376 0.1001 M 0.75777 2.31 0.54753 D 0.999984 D;D;D 0.89917 1.0;0.985;0.999 D;P;P 0.87578 0.998;0.613;0.856 T 0.15464 -1.0436 10 0.72032 D 0.01 -4.4975 7.7188 0.28721 0.0:0.8859:0.0:0.1141 . 73;248;468 B7Z4M4;B7Z2Y0;O00213-2 .;.;. H 468;468;470;319;211;235;248;209 ENSP00000299402:R468H;ENSP00000311912:R468H;ENSP00000374556:R470H;ENSP00000433338:R248H;ENSP00000437114:R209H ENSP00000299402:R468H R - 2 0 APBB1 6379474 0.904000 0.30761 0.962000 0.40283 0.968000 0.65278 7.425000 0.80255 2.137000 0.66172 0.591000 0.81541 CGT APBB1-023 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000471831.1 - ENST00000609360.1 Missense_Mutation SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW ASTE1 28990 bcgsc.ca 37 3 130733173 130733173 + Missense_Mutation SNP C C A TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr3:130733173C>A ENST00000514044.1 - 7.0 2049 c.1843G>T c.(1843-1845)Gta>Tta p.V615L ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000533801.2_Intron|ASTE1_ENST00000264992.3_Missense_Mutation_p.V590L|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000359644.3_Intron Q2TB18 ASTE1_HUMAN asteroid homolog 1 (Drosophila) 590.0 DNA repair (GO:0006281) nuclease activity (GO:0004518) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 22.0 AGACTTTCTACAGAGGTCGAT 0.423 0 79.0 80.0 80.0 3 130733173.0 2203.0 4300.0 6503.0 SO:0001583 missense AF113539 CCDS3068.1, CCDS75007.1 3q21.3 2005-11-17 ENSG00000034533 ENSG00000034533 28990.0 28990.0 25021.0 protein-coding gene gene with protein product Standard NM_014065 NM_014065 Approved HT001 uc003env.1 Q2TB18 OTTHUMG00000159644 ENST00000514044.1:c.1843G>T 3.__UNKNOWN__:g.130733173C>A ENSP00000426421:p.Val615Leu B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6 __UNKNOWN__ . . . . . . . . . . C 5.252 0.231877 0.09969 . . ENSG00000034533 ENST00000514044;ENST00000264992 . . . 5.81 4.91 0.64330 . 0.538515 0.20745 N 0.086476 T 0.39860 0.1094 L 0.48362 1.52 0.09310 N 1 B;B 0.20671 0.047;0.022 B;B 0.15484 0.013;0.01 T 0.20505 -1.0273 9 0.19147 T 0.46 -2.9988 12.941 0.58345 0.0:0.688:0.312:0.0 . 615;590 D6RG30;Q2TB18 .;ASTE1_HUMAN L 615;590 . ENSP00000264992:V590L V - 1 0 ASTE1 132215863 0.014000 0.17966 0.003000 0.11579 0.047000 0.14425 1.026000 0.30103 1.396000 0.46663 0.557000 0.71058 GTA ASTE1-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000356661.1 - ENST00000514044.1 Missense_Mutation SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW Unknown 149224 bcgsc.ca 37 1 68708602 68708602 + RNA SNP G G A TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr1:68708602G>A WLS (10336 upstream) : RPE65 (185902 downstream) CTTGGCTGCCGTAATATTCAG 0.493 0 SO:0001628 intergenic_variant 1.__UNKNOWN__:g.68708602G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW SMTNL2 342527 ucsc.edu 37 17 4496292 4496292 + Missense_Mutation SNP G G A TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr17:4496292G>A ENST00000389313.4 + 3.0 623 c.556G>A c.(556-558)Gtg>Atg p.V186M SMTNL2_ENST00000338859.4_Missense_Mutation_p.V42M NM_001114974.1 NP_001108446.1 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 186.0 breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1) 13.0 READ - Rectum adenocarcinoma(115;0.0325) GCCTCGTCCTGTGAGCCTCTC 0.622 0 72.0 71.0 71.0 17 4496292.0 2203.0 4300.0 6503.0 SO:0001583 missense AK124452 CCDS11048.1, CCDS45583.1 17p13.2 2006-04-26 ENSG00000188176 ENSG00000188176 342527.0 342527.0 24764.0 protein-coding gene gene with protein product Standard NM_198501 NM_001114974 Approved FLJ42461 uc002fyf.1 Q2TAL5 OTTHUMG00000132938 ENST00000389313.4:c.556G>A 17.__UNKNOWN__:g.4496292G>A ENSP00000373964:p.Val186Met Q6ZVK6 __UNKNOWN__ CCDS45583.1 . . . . . . . . . . G 8.428 0.847860 0.17034 . . ENSG00000188176 ENST00000338859;ENST00000389313 T;T 0.81415 -1.49;-1.49 5.36 0.612 0.17591 . . . . . T 0.71736 0.3375 L 0.56769 1.78 0.09310 N 1 B 0.27351 0.176 B 0.19391 0.025 T 0.61530 -0.7044 9 0.51188 T 0.08 -20.8225 4.4496 0.11614 0.2847:0.2079:0.5074:0.0 . 186 Q2TAL5 SMTL2_HUMAN M 42;186 ENSP00000345143:V42M;ENSP00000373964:V186M ENSP00000345143:V42M V + 1 0 SMTNL2 4443041 0.030000 0.19436 0.376000 0.26042 0.388000 0.30384 0.755000 0.26405 0.376000 0.24707 -0.141000 0.14075 GTG SMTNL2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000439129.1 + ENST00000389313.4 Missense_Mutation SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW KCNJ12 100134444 hgsc.bcm.edu 37 17 21319654 21319654 + Missense_Mutation SNP G G A rs72228949 TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 9dde8da2-477b-4451-9961-e409f4d6cb95 faea5994-decf-47e9-a35b-7ab27a79168a g.chr17:21319654G>A ENST00000583088.1 + 3.0 1895 c.1000G>A c.(1000-1002)Gag>Aag p.E334K KCNJ12_ENST00000331718.5_Missense_Mutation_p.E334K NM_021012.4 NP_066292.2 Q14500 KCJ12_HUMAN potassium inwardly-rectifying channel, subfamily J, member 12 334.0 Missing (in Ref. 2; AAC50615). {ECO:0000305}. muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268) integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886) inward rectifier potassium channel activity (GO:0005242) NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70.0 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204)|Yohimbine(DB01392) GCTCTTCGAGGAGAAGAACCA 0.577 Prostate(3;0.18) 0 153.0 154.0 154.0 17 21319654.0 2203.0 4300.0 6503.0 SO:0001583 missense L36069 CCDS11219.1 17p11.1 2011-07-05 2004-01-13 ENSG00000184185 ENSG00000184185 3768.0 3768.0 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying""" 6258.0 protein-coding gene gene with protein product 602323 """potassium inwardly-rectifying channel, subfamily J, inhibitor 1""" KCNJN1 7859381, 12417321, 16382105 Standard NM_021012 NM_021012 Approved Kir2.2, Kir2.2v, IRK2, hIRK1 uc021tss.1 Q14500 OTTHUMG00000132039 ENST00000583088.1:c.1000G>A 17.__UNKNOWN__:g.21319654G>A ENSP00000463778:p.Glu334Lys O43401|Q15756|Q8NG63 __UNKNOWN__ CCDS11219.1 . . . . . . . . . . G 19.64 3.866216 0.71949 . . ENSG00000184185 ENST00000331718 D 0.91686 -2.89 5.76 5.76 0.90799 Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1); 0.000000 0.85682 D 0.000000 D 0.89884 0.6844 L 0.41632 1.29 0.80722 D 1 B 0.16603 0.018 B 0.17098 0.017 D 0.85181 0.1004 10 0.66056 D 0.02 . 19.9738 0.97296 0.0:0.0:1.0:0.0 . 334 Q14500 IRK12_HUMAN K 334 ENSP00000328150:E334K ENSP00000328150:E334K E + 1 0 KCNJ12 21260247 1.000000 0.71417 1.000000 0.80357 0.981000 0.71138 9.698000 0.98700 2.732000 0.93576 0.655000 0.94253 GAG KCNJ12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255060.2 + ENST00000583088.1 Missense_Mutation SNP PCPG-TCGA-WB-A81R-Normal-SM-5EMNW ADAMTSL1 92949 broad.mit.edu 37 9 18721642 18721642 + Missense_Mutation SNP A A G rs144658832 TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr9:18721642A>G ENST00000276935.6 + 15.0 1985 c.1985A>G c.(1984-1986)aAt>aGt p.N662S ADAMTSL1_ENST00000380548.4_Missense_Mutation_p.N662S Q8N6G6 ATL1_HUMAN ADAMTS-like 1 662.0 TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}. proteinaceous extracellular matrix (GO:0005578) metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) 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) 42.0 GBM - Glioblastoma multiforme(50;1.29e-17) AAGTCCTGCAATTTGGATCCC 0.602 A 3.0 0.0014 2184.0 0.01 1.0 , , 0.0003 0.0014 0.9844 LOWCOV,EXOME 0.0005 SNP 0 A SER/ASN 0,4406 0,0,2203 76.0 68.0 71.0 1985 2.5 1.0 9 dbSNP_134 71.0 1,8599 1.2+/-3.3 0,1,4299 yes missense ADAMTSL1 NM_001040272.5 46 0,1,6502 GG,GA,AA 0.0116,0.0,0.0077 benign 662/1763 18721642.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AF176313 CCDS6485.1, CCDS47954.1 9p21.3 2013-01-11 ENSG00000178031 ENSG00000178031 92949.0 92949.0 """Immunoglobulin superfamily / I-set domain containing""" 14632.0 protein-coding gene gene with protein product """punctin""" 609198 """chromosome 9 open reading frame 94""" C9orf94 9628581, 11805097 Standard NM_001040272 Approved ADAMTSR1, FLJ35283 uc003zne.4 Q8N6G6 OTTHUMG00000019604 ENST00000276935.6:c.1985A>G 9.__UNKNOWN__:g.18721642A>G ENSP00000276935:p.Asn662Ser A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3 __UNKNOWN__ 3 0.0013736263736263737 0 0.0 0 0.0 3 0.005244755244755245 0 0.0 A 12.22 1.872984 0.33069 0.0 1.16E-4 ENSG00000178031 ENST00000380548;ENST00000276935 T;T 0.62232 0.04;0.04 5.86 2.49 0.30216 . 100.034000 0.04078 U 0.309146 T 0.50274 0.1606 L 0.49571 1.57 0.80722 D 1 B 0.06786 0.001 B 0.06405 0.002 T 0.41627 -0.9498 10 0.51188 T 0.08 . 7.9581 0.30055 0.5852:0.0:0.4148:0.0 . 662 Q8N6G6 ATL1_HUMAN S 662 ENSP00000369921:N662S;ENSP00000276935:N662S ENSP00000276935:N662S N + 2 0 ADAMTSL1 18711642 0.998000 0.40836 0.994000 0.49952 0.991000 0.79684 2.763000 0.47605 0.569000 0.29329 0.528000 0.53228 AAT ADAMTSL1-005 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000051804.5 + ENST00000276935.6 Missense_Mutation SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC TSGA10 80705 broad.mit.edu 37 2 99695278 99695278 + Splice_Site SNP T T A TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr2:99695278T>A ENST00000393483.3 - 12.0 1572 c.e12-2 TSGA10_ENST00000539964.1_Splice_Site|TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000542655.1_Splice_Site|TSGA10_ENST00000355053.4_Splice_Site|TSGA10_ENST00000410001.1_Splice_Site NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34.0 TAAAGTTATCTATGTATGCAA 0.323 0 71.0 69.0 70.0 2 99695278.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AF254756 CCDS2037.1 2q11.2 2009-08-06 ENSG00000135951 ENSG00000135951 80705.0 80705.0 14927.0 protein-coding gene gene with protein product """cancer/testis antigen 79""" 607166 11179690 Standard NM_182911 NM_025244 Approved CEP4L, CT79 uc002szi.4 Q9BZW7 OTTHUMG00000130637 ENST00000393483.3:c.728-2A>T 2.__UNKNOWN__:g.99695278T>A B7Z925|D3DVH7|Q8NEP0|Q9BWX0 __UNKNOWN__ CCDS2037.1 . . . . . . . . . . T 9.148 1.015664 0.19355 . . ENSG00000135951 ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655 . . . 5.15 5.15 0.70609 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 11.2807 0.49192 0.0:0.0:0.0:1.0 . . . . . -1 . . . - . . TSGA10 99061710 1.000000 0.71417 1.000000 0.80357 0.150000 0.21749 4.597000 0.61062 2.159000 0.67721 0.383000 0.25322 . TSGA10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253125.1 Intron - ENST00000393483.3 Splice_Site SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC HSPG2 3339 broad.mit.edu 37 1 22167752 22167752 + Missense_Mutation SNP C C T TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr1:22167752C>T ENST00000374695.3 - 71.0 9434 c.9355G>A c.(9355-9357)Gag>Aag p.E3119K NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3119.0 Ig-like C2-type 17. angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) 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) 127.0 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) Palifermin(DB00039) ACGGGGCCCTCGGGGAGCACG 0.657 0 44.0 48.0 47.0 1 22167752.0 2203.0 4300.0 6503.0 SO:0001583 missense M85289 CCDS30625.1 1p36.1-p35 2013-01-29 2007-02-16 2007-02-16 ENSG00000142798 ENSG00000142798 3339.0 3339.0 """Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 5273.0 protein-coding gene gene with protein product """perlecan proteoglycan""" 142461 """Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)""" SJS1 1685141, 11941538 Standard NM_005529 XM_005245863 Approved perlecan, PRCAN uc001bfj.3 P98160 OTTHUMG00000002674 ENST00000374695.3:c.9355G>A 1.__UNKNOWN__:g.22167752C>T ENSP00000363827:p.Glu3119Lys Q16287|Q5SZI3|Q9H3V5 __UNKNOWN__ CCDS30625.1 . . . . . . . . . . C 13.51 2.257664 0.39896 . . ENSG00000142798 ENST00000374695 T 0.42131 0.98 4.55 3.56 0.40772 Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.179059 0.26963 N 0.021602 T 0.24890 0.0604 N 0.25380 0.74 0.19575 N 0.999964 B;B 0.20459 0.014;0.045 B;B 0.19148 0.013;0.024 T 0.05131 -1.0904 10 0.27082 T 0.32 . 5.6681 0.17707 0.0:0.5496:0.3368:0.1135 . 1059;3119 Q59EG0;P98160 .;PGBM_HUMAN K 3119 ENSP00000363827:E3119K ENSP00000363827:E3119K E - 1 0 HSPG2 22040339 0.163000 0.22920 0.994000 0.49952 0.977000 0.68977 0.566000 0.23593 2.364000 0.80123 0.561000 0.74099 GAG HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007598.1 - ENST00000374695.3 Missense_Mutation SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC MAP1B 4131 broad.mit.edu 37 5 71492290 71492290 + Silent SNP G G A rs150527364 TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr5:71492290G>A ENST00000296755.7 + 5.0 3406 c.3108G>A c.(3106-3108)ccG>ccA p.P1036P NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1036.0 axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202) structural molecule activity (GO:0005198) p.P1036P(1) 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) 104.0 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) AATATGAGCCGGAAAAAATGG 0.517 Melanoma(17;367 822 11631 31730 47712) 1 Substitution - coding silent(1) large_intestine(1) G 0,4406 0,0,2203 153.0 156.0 155.0 3108 -11.7 0.0 5 dbSNP_134 155.0 2,8598 2.2+/-6.3 0,2,4298 no coding-synonymous MAP1B NM_005909.3 0,2,6501 AA,AG,GG 0.0233,0.0,0.0154 1036/2469 71492290.0 2,13004 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant L06237 CCDS4012.1 5q13 2014-06-12 ENSG00000131711 ENSG00000131711 4131.0 4131.0 6836.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 102""" 157129 1881920 Standard NM_005909 NM_005909 Approved MAP5, PPP1R102 uc003kbw.4 P46821 OTTHUMG00000100952 ENST00000296755.7:c.3108G>A 5.__UNKNOWN__:g.71492290G>A A2BDK5 __UNKNOWN__ CCDS4012.1 MAP1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000218561.6 + ENST00000296755.7 Silent SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC LAMA4 3910 broad.mit.edu 37 6 112452193 112452193 + Silent SNP G G A TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr6:112452193G>A ENST00000230538.7 - 29.0 4342 c.3945C>T c.(3943-3945)gtC>gtT p.V1315V LAMA4_ENST00000522006.1_Silent_p.V1308V|LAMA4_ENST00000389463.4_Silent_p.V1308V|LAMA4_ENST00000424408.2_Silent_p.V1308V NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1315.0 Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}. blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606) extracellular matrix structural constituent (GO:0005201) 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) 100.0 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) CAGAGCTAATGACGAAGTGGG 0.408 0 266.0 219.0 235.0 6 112452193.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS34514.1, CCDS43491.1, CCDS43492.1 6q21 2014-09-17 ENSG00000112769 ENSG00000112769 3910.0 3910.0 """Laminins""" 6484.0 protein-coding gene gene with protein product 600133 7959779 Standard NM_001105206 NM_001105206 Approved LAMA3 uc003pvu.3 Q16363 OTTHUMG00000015386 ENST00000230538.7:c.3945C>T 6.__UNKNOWN__:g.112452193G>A Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9 __UNKNOWN__ CCDS43491.1 LAMA4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000041876.2 - ENST00000230538.7 Silent SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC ANPEP 290 broad.mit.edu 37 15 90335438 90335438 + Silent SNP C C T TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr15:90335438C>T ENST00000300060.6 - 18.0 2794 c.2481G>A c.(2479-2481)aaG>aaA p.K827K NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 827.0 Metalloprotease. angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032) endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270) 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) 57.0 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)|Icatibant(DB06196) CTGCCCGGAGCTTGTCAGCCT 0.627 NSCLC(30;827 977 2459 19669 26125) 0 102.0 95.0 98.0 15 90335438.0 2200.0 4299.0 6499.0 SO:0001819 synonymous_variant M22324 CCDS10356.1 15q25-q26 2008-07-31 2008-07-31 ENSG00000166825 ENSG00000166825 290.0 290.0 3.4.11.2 """CD molecules""" 500.0 protein-coding gene gene with protein product """aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase""" 151530 CD13, PEPN 2428842, 1977688 Standard NM_001150 Approved LAP1, gp150, p150 uc002bop.4 P15144 OTTHUMG00000149814 ENST00000300060.6:c.2481G>A 15.__UNKNOWN__:g.90335438C>T Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0 __UNKNOWN__ CCDS10356.1 ANPEP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313425.1 - ENST00000300060.6 Silent SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC EML2 24139 broad.mit.edu 37 19 46120071 46120071 + Missense_Mutation SNP T T C TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr19:46120071T>C ENST00000589876.1 - 14.0 1389 c.1363A>G c.(1363-1365)Atc>Gtc p.I455V EML2_ENST00000587152.1_Missense_Mutation_p.I656V|EML2_ENST00000536630.1_Missense_Mutation_p.I602V|EML2_ENST00000245925.3_Missense_Mutation_p.I455V O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 455.0 Tandem atypical propeller in EMLs. {ECO:0000250}. negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601) cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875) microtubule binding (GO:0008017)|tubulin binding (GO:0015631) NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31.0 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) TCTGTGTGGATAGCCACCAGG 0.632 0 VAL/ILE,VAL/ILE,VAL/ILE 0,4406 0,0,2203 98.0 77.0 84.0 1363,1804,1966 4.7 1.0 19 84.0 1,8599 1.2+/-3.3 0,1,4299 no missense,missense,missense EML2 NM_012155.2,NM_001193269.1,NM_001193268.1 29,29,29 0,1,6502 CC,CT,TT 0.0116,0.0,0.0077 benign,benign,benign 455/650,602/797,656/851 46120071.0 1,13005 2203.0 4300.0 6503.0 SO:0001583 missense AF103939 CCDS12670.1, CCDS54280.1, CCDS59399.1 19q13.32 2013-01-10 ENSG00000125746 24139.0 24139.0 """WD repeat domain containing""" 18035.0 protein-coding gene gene with protein product """echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP""" 11694528, 10521658 Standard NM_012155 NM_012155 Approved EMAP2, ELP70, EMAP-2 uc010xxm.2 O95834 ENST00000589876.1:c.1363A>G 19.__UNKNOWN__:g.46120071T>C ENSP00000464789:p.Ile455Val B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50 __UNKNOWN__ . . . . . . . . . . T 6.264 0.416757 0.11870 0.0 1.16E-4 ENSG00000125746 ENST00000536630;ENST00000245925;ENST00000448055 T;T 0.58652 0.32;0.32 4.73 4.73 0.59995 WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);WD40-repeat-containing domain (1); 0.168257 0.52532 D 0.000075 T 0.27933 0.0688 N 0.03154 -0.405 0.27658 N 0.947167 B;B;B 0.31256 0.005;0.316;0.005 B;B;B 0.28385 0.01;0.089;0.015 T 0.12400 -1.0549 10 0.20046 T 0.44 -30.049 6.9427 0.24502 0.0:0.1005:0.0:0.8995 . 621;602;455 B7Z3Q9;B7Z3I2;O95834 .;.;EMAL2_HUMAN V 602;455;613 ENSP00000442365:I602V;ENSP00000245925:I455V ENSP00000245925:I455V I - 1 0 EML2 50811911 0.980000 0.34600 1.000000 0.80357 0.984000 0.73092 1.401000 0.34589 1.994000 0.58287 0.379000 0.24179 ATC EML2-008 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000459605.1 - ENST00000589876.1 Missense_Mutation SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC LPPR1 0 broad.mit.edu 37 9 104075136 104075136 + Silent SNP G G T rs144819698 TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr9:104075136G>T ENST00000374874.3 + 6.0 1132 c.693G>T c.(691-693)ctG>ctT p.L231L LPPR1_ENST00000395056.2_Silent_p.L231L NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 231.0 nervous system development (GO:0007399) integral component of membrane (GO:0016021) catalytic activity (GO:0003824) AGCCGGTGCTGTGCCTCGGAA 0.562 0 131.0 122.0 125.0 9 104075136.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant ENST00000374874.3:c.693G>T 9.__UNKNOWN__:g.104075136G>T Q5VX23|Q9NXE2 __UNKNOWN__ CCDS6751.1 LPPR1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053425.1 + ENST00000374874.3 Silent SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC IGHG4 0 broad.mit.edu 37 14 106091309 106091309 + RNA SNP G G A TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr14:106091309G>A ENST00000390543.2 - 0.0 584 P01861 IGHG4_HUMAN immunoglobulin heavy constant gamma 4 (G4m marker) complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) antigen binding (GO:0003823) ACTCCTTGCCGTTCAGCCAGT 0.592 0 268.0 333.0 311.0 14 106091309.0 2189.0 4283.0 6472.0 K01316 14q32.33 2012-10-02 ENSG00000211892 ENSG00000211892 3503.0 3503.0 """Immunoglobulins / IGH locus""" 5528.0 other immunoglobulin gene 147130 Standard NG_001019 NG_001019 Approved P01861 OTTHUMG00000152481 ENST00000390543.2: 14.__UNKNOWN__:g.106091309G>A __UNKNOWN__ IGHG4-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal IG_C_gene IG_C_gene OTTHUMT00000326390.1 - ENST00000390543.2 RNA SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC KMT2A 4297 broad.mit.edu 37 11 118376687 118376687 + Silent SNP A A C TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr11:118376687A>C ENST00000534358.1 + 27.0 10103 c.10080A>C c.(10078-10080)tcA>tcC p.S3360S KMT2A_ENST00000389506.5_Silent_p.S3357S|KMT2A_ENST00000354520.4_Silent_p.S3319S NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 Q03164 KMT2A_HUMAN lysine (K)-specific methyltransferase 2A 3357.0 anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634) AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270) GTAGTGCGTCAGTTCCAGGAC 0.493 0 200.0 199.0 199.0 11 118376687.0 2200.0 4295.0 6495.0 SO:0001819 synonymous_variant L04284 CCDS31686.1, CCDS55791.1 11q23 2014-09-17 2013-05-09 2013-05-09 ENSG00000118058 ENSG00000118058 4297.0 4297.0 """Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type""" 7132.0 protein-coding gene gene with protein product 159555 """myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)""" MLL 1720549 Standard NM_005933 NM_001197104 Approved TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A Q03164 OTTHUMG00000166337 ENST00000534358.1:c.10080A>C 11.__UNKNOWN__:g.118376687A>C E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3 __UNKNOWN__ CCDS55791.1 KMT2A-001 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000389228.2 + ENST00000534358.1 Silent SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC DPY19L2P2 0 broad.mit.edu 37 7 102912314 102912314 + RNA SNP T T C TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr7:102912314T>C ENST00000312132.4 - 0.0 2265 Q6ZN68 D19P2_HUMAN DPY19L2 pseudogene 2 integral component of membrane (GO:0016021) transferase activity, transferring glycosyl groups (GO:0016757) AATAATAAAGTCCCTTTTTTA 0.269 0 AL834175 7q22.1 2013-09-12 2013-09-12 ENSG00000170629 ENSG00000170629 349152.0 349152.0 21764.0 pseudogene pseudogene """dpy-19-like 2 pseudogene 2 (C. elegans)""" Standard NM_182634 NR_027768 Approved DKFZp434E092, FLJ36166 uc003vbh.4 Q6ZN68 OTTHUMG00000157200 ENST00000312132.4: 7.__UNKNOWN__:g.102912314T>C Q8N9V4|Q8ND62 __UNKNOWN__ DPY19L2P2-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000347877.1 - ENST00000312132.4 RNA SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC MRPS2 51116 broad.mit.edu 37 9 138393756 138393756 + Missense_Mutation SNP T T G rs148092515 TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr9:138393756T>G ENST00000371785.1 + 4.0 445 c.236T>G c.(235-237)tTt>tGt p.F79C MRPS2_ENST00000241600.5_Missense_Mutation_p.F79C|MRPS2_ENST00000488610.1_3'UTR Q9Y399 RT02_HUMAN mitochondrial ribosomal protein S2 79.0 translation (GO:0006412) mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935) structural constituent of ribosome (GO:0003735) large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1) 6.0 OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42) AAGGAACTGTTTTCCGTGAGA 0.567 0 112.0 103.0 106.0 9 138393756.0 2203.0 4300.0 6503.0 SO:0001583 missense AB051627 CCDS6990.1 9q34 2012-09-13 ENSG00000122140 ENSG00000122140 51116.0 51116.0 """Mitochondrial ribosomal proteins / small subunits""" 14495.0 protein-coding gene gene with protein product 611971 Standard NM_016034 Approved CGI-91 uc004cfv.5 Q9Y399 OTTHUMG00000020910 ENST00000371785.1:c.236T>G 9.__UNKNOWN__:g.138393756T>G ENSP00000360850:p.Phe79Cys Q5T899|Q9BSQ4 __UNKNOWN__ CCDS6990.1 . . . . . . . . . . T 23.0 4.359438 0.82353 . . ENSG00000122140 ENST00000371785;ENST00000241600;ENST00000453385 T;T;T 0.35973 1.71;1.71;1.28 4.91 4.91 0.64330 . 0.102387 0.64402 D 0.000002 T 0.59838 0.2223 M 0.75085 2.285 0.58432 D 0.999999 D 0.89917 1.0 D 0.87578 0.998 T 0.65092 -0.6252 10 0.87932 D 0 -8.6129 13.7366 0.62821 0.0:0.0:0.0:1.0 . 79 Q9Y399 RT02_HUMAN C 79;79;93 ENSP00000360850:F79C;ENSP00000241600:F79C;ENSP00000400082:F93C ENSP00000241600:F79C F + 2 0 MRPS2 137533577 1.000000 0.71417 1.000000 0.80357 0.754000 0.42855 7.213000 0.77950 1.822000 0.53115 0.533000 0.62120 TTT MRPS2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000054998.1 + ENST00000371785.1 Missense_Mutation SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC ZNF569 148266 broad.mit.edu 37 19 37904427 37904427 + Missense_Mutation SNP C C T TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr19:37904427C>T ENST00000316950.6 - 6.0 1690 c.1133G>A c.(1132-1134)gGt>gAt p.G378D ZNF569_ENST00000392150.2_Missense_Mutation_p.G219D|ZNF569_ENST00000392149.2_Missense_Mutation_p.G378D NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 378.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40.0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGGTTTTTCACCTGTATGAAT 0.368 0 74.0 73.0 73.0 19 37904427.0 2203.0 4300.0 6503.0 SO:0001583 missense AL833408 CCDS12503.1 19q13.12 2013-09-20 ENSG00000196437 ENSG00000196437 148266.0 148266.0 """Zinc fingers, C2H2-type"", ""-""" 24737.0 protein-coding gene gene with protein product 613904 12477932 Standard NM_152484 NM_152484 Approved FLJ32053, ZAP1 uc002ogi.3 Q5MCW4 OTTHUMG00000048172 ENST00000316950.6:c.1133G>A 19.__UNKNOWN__:g.37904427C>T ENSP00000325018:p.Gly378Asp A8K1S2|Q15925|Q17RR6|Q96MQ2 __UNKNOWN__ CCDS12503.1 . . . . . . . . . . C 20.5 4.008006 0.75046 . . ENSG00000196437 ENST00000316950;ENST00000392149;ENST00000392150 T;T 0.26660 1.72;1.72 4.12 4.12 0.48240 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.38492 N 0.001666 T 0.45397 0.1340 L 0.52364 1.645 0.51767 D 0.999932 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 T 0.46884 -0.9159 10 0.87932 D 0 . 15.6322 0.76920 0.0:1.0:0.0:0.0 . 219;378 Q17RR6;Q5MCW4 .;ZN569_HUMAN D 378;34;219 ENSP00000325018:G378D;ENSP00000375993:G219D ENSP00000325018:G378D G - 2 0 ZNF569 42596267 0.990000 0.36364 0.999000 0.59377 0.998000 0.95712 3.740000 0.55082 2.285000 0.76669 0.655000 0.94253 GGT ZNF569-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000109594.2 - ENST00000316950.6 Missense_Mutation SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC P4HTM 54681 broad.mit.edu 37 3 49028318 49028318 + Missense_Mutation SNP G G A TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr3:49028318G>A ENST00000383729.4 + 2.0 778 c.407G>A c.(406-408)cGa>cAa p.R136Q P4HTM_ENST00000343546.4_Missense_Mutation_p.R136Q|P4HTM_ENST00000609406.1_3'UTR NM_177939.2 NP_808808.1 Q9NXG6 P4HTM_HUMAN prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 136.0 endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706) NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21.0 Vitamin C(DB00126) CACTTCATCCGAACCCTCAGC 0.642 0 76.0 51.0 59.0 3 49028318.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS2781.2, CCDS43089.1 3p21.31 2009-01-14 ENSG00000178467 ENSG00000178467 54681.0 54681.0 28858.0 protein-coding gene gene with protein product """Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase""" 614584 12163023, 17726031 Standard NM_177938 XR_245139 Approved P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4 uc003cvh.3 Q9NXG6 OTTHUMG00000074057 ENST00000383729.4:c.407G>A 3.__UNKNOWN__:g.49028318G>A ENSP00000373235:p.Arg136Gln Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77 __UNKNOWN__ CCDS43089.1 . . . . . . . . . . G 18.96 3.734122 0.69189 . . ENSG00000178467 ENST00000383729;ENST00000343546 T 0.78481 -1.18 4.42 2.26 0.28386 EF-hand-like domain (1); 0.149689 0.42420 D 0.000703 T 0.76385 0.3980 L 0.43923 1.385 0.33187 D 0.55039 D;D 0.67145 0.996;0.957 P;B 0.56788 0.806;0.289 T 0.79500 -0.1778 10 0.62326 D 0.03 -5.9929 6.3088 0.21153 0.3697:0.0:0.6303:0.0 . 136;136 Q9NXG6-3;Q9NXG6 .;P4HTM_HUMAN Q 136 ENSP00000373235:R136Q ENSP00000341422:R136Q R + 2 0 P4HTM 49003322 1.000000 0.71417 0.999000 0.59377 0.988000 0.76386 1.659000 0.37387 0.861000 0.35504 0.462000 0.41574 CGA P4HTM-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000157211.1 + ENST00000383729.4 Missense_Mutation SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC PKD1L2 114780 broad.mit.edu 37 16 81253679 81253679 + Silent SNP C C A TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr16:81253679C>A ENST00000525539.1 - 0.0 296 PKD1L2_ENST00000337114.4_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246) 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) 44.0 ACCTACCCTCCGTGGTTCCAT 0.488 0 87.0 84.0 85.0 16 81253679.0 2008.0 4162.0 6170.0 AY164483 CCDS61998.1, CCDS61999.1 16q23.2 2014-09-11 ENSG00000166473 ENSG00000166473 114780.0 114780.0 21715.0 protein-coding gene gene with protein product 607894 12782129 Standard NM_052892 Approved KIAA1879 uc002fgf.1 Q7Z442 OTTHUMG00000166126 ENST00000525539.1: 16.__UNKNOWN__:g.81253679C>A Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08 __UNKNOWN__ PKD1L2-001 KNOWN non_canonical_polymorphism|basic polymorphic_pseudogene polymorphic_pseudogene OTTHUMT00000387972.2 - ENST00000525539.1 RNA SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC STOML3 0 broad.mit.edu 37 13 39544453 39544453 + Missense_Mutation SNP C C T TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr13:39544453C>T ENST00000379631.4 - 5.0 729 c.385G>A c.(385-387)Gca>Aca p.A129T STOML3_ENST00000423210.1_Missense_Mutation_p.A120T NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 129.0 signal transduction (GO:0007165) cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11.0 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) TTAGCCACTGCTGAGACAGCA 0.458 0 175.0 166.0 169.0 13 39544453.0 2203.0 4300.0 6503.0 SO:0001583 missense BC025760 CCDS9367.1, CCDS45040.1 13q13.2 2004-03-05 ENSG00000133115 ENSG00000133115 161003.0 19420.0 protein-coding gene gene with protein product 608327 12122055 Standard NM_145286 Approved SRO, Epb7.2l uc001uwx.3 Q8TAV4 OTTHUMG00000016763 ENST00000379631.4:c.385G>A 13.__UNKNOWN__:g.39544453C>T ENSP00000368952:p.Ala129Thr B4E285|Q5JS35 __UNKNOWN__ CCDS9367.1 . . . . . . . . . . C 25.3 4.626208 0.87560 . . ENSG00000133115 ENST00000379631;ENST00000423210 D;D 0.95035 -3.59;-3.59 5.75 5.75 0.90469 . 0.048500 0.85682 D 0.000000 D 0.97514 0.9186 M 0.88704 2.975 0.58432 D 0.999995 D;D 0.55605 0.972;0.972 D;D 0.62955 0.909;0.909 D 0.97907 1.0306 10 0.72032 D 0.01 -15.3997 18.5072 0.90901 0.0:1.0:0.0:0.0 . 120;129 B4E285;Q8TAV4 .;STML3_HUMAN T 129;120 ENSP00000368952:A129T;ENSP00000401989:A120T ENSP00000368952:A129T A - 1 0 STOML3 38442453 0.998000 0.40836 0.446000 0.26920 0.896000 0.52359 3.978000 0.56881 2.710000 0.92621 0.563000 0.77884 GCA STOML3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000044604.2 - ENST00000379631.4 Missense_Mutation SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC IGHG4 0 broad.mit.edu 37 14 106090814 106090814 + RNA SNP C C G TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr14:106090814C>G ENST00000390543.2 - 0.0 982 P01861 IGHG4_HUMAN immunoglobulin heavy constant gamma 4 (G4m marker) complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) antigen binding (GO:0003823) CCCTGGCACTCATTTACCCAG 0.632 0 73.0 108.0 97.0 14 106090814.0 1889.0 4143.0 6032.0 K01316 14q32.33 2012-10-02 ENSG00000211892 ENSG00000211892 3503.0 3503.0 """Immunoglobulins / IGH locus""" 5528.0 other immunoglobulin gene 147130 Standard NG_001019 NG_001019 Approved P01861 OTTHUMG00000152481 ENST00000390543.2: 14.__UNKNOWN__:g.106090814C>G __UNKNOWN__ IGHG4-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal IG_C_gene IG_C_gene OTTHUMT00000326390.1 - ENST00000390543.2 RNA SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC BIRC3 330 broad.mit.edu 37 11 102195247 102195247 + Missense_Mutation SNP A A G TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr11:102195247A>G ENST00000263464.3 + 2.0 2757 c.7A>G c.(7-9)Ata>Gta p.I3V BIRC3_ENST00000532808.1_Missense_Mutation_p.I3V NM_001165.4 NP_001156.1 Q13489 BIRC3_HUMAN baculoviral IAP repeat containing 3 3.0 apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1) 21.0 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) CATTATGAACATAGTAGAAAA 0.373 T MALT1 MALT Dom yes 11 11q22-q23 330.0 baculoviral IAP repeat-containing 3 L 0 89.0 85.0 86.0 11 102195247.0 2203.0 4299.0 6502.0 SO:0001583 missense L49432 CCDS8315.1 11q22 2011-01-25 2011-01-25 ENSG00000023445 330.0 330.0 """Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers""" 591.0 protein-coding gene gene with protein product """apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1""" 601721 """baculoviral IAP repeat-containing 3""" API2 8552191, 8548810 Standard NM_001165 NM_001165 Approved cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2 uc001pgx.3 Q13489 ENST00000263464.3:c.7A>G 11.__UNKNOWN__:g.102195247A>G ENSP00000263464:p.Ile3Val Q16628|Q9HC27|Q9UP46 __UNKNOWN__ CCDS8315.1 . . . . . . . . . . A 8.673 0.903390 0.17760 . . ENSG00000023445 ENST00000263464;ENST00000532808 T;T 0.20738 2.05;2.05 6.06 0.494 0.16884 . 0.427868 0.28284 N 0.015908 T 0.09335 0.0230 N 0.16478 0.41 0.28037 N 0.933906 B 0.09022 0.002 B 0.09377 0.004 T 0.13150 -1.0520 10 0.35671 T 0.21 . 2.8115 0.05443 0.6015:0.1186:0.1653:0.1145 . 3 Q13489 BIRC3_HUMAN V 3 ENSP00000263464:I3V;ENSP00000432907:I3V ENSP00000263464:I3V I + 1 0 BIRC3 101700457 0.630000 0.27155 0.936000 0.37596 0.468000 0.32798 0.505000 0.22642 0.514000 0.28300 0.533000 0.62120 ATA BIRC3-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394159.1 + ENST00000263464.3 Missense_Mutation SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC CLVS1 157807 bcgsc.ca 37 8 62370926 62370926 + Missense_Mutation SNP C C T TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr8:62370926C>T ENST00000519846.1 + 6.0 1274 c.802C>T c.(802-804)Ccc>Tcc p.P268S CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.P268S Q8IUQ0 CLVS1_HUMAN clavesin 1 268.0 CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}. lysosome organization (GO:0007040) clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802) phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215) p.P268S(1) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41.0 TGAATTTTTGCCCTCTGAATT 0.413 1 Substitution - Missense(1) prostate(1) 128.0 120.0 123.0 8 62370926.0 2203.0 4300.0 6503.0 SO:0001583 missense AY094971 CCDS6176.1 8q12.1 2009-10-14 2009-10-14 2009-10-14 ENSG00000177182 157807.0 157807.0 23139.0 protein-coding gene gene with protein product 611292 """retinaldehyde binding protein 1-like 1""" RLBP1L1 16802092, 19651769 Standard NM_173519 NM_173519 Approved MGC34646, CRALBPL, C6orf212L uc003xuh.3 Q8IUQ0 ENST00000519846.1:c.802C>T 8.__UNKNOWN__:g.62370926C>T ENSP00000428402:p.Pro268Ser B2R7M5|C8UZT3|Q8NB32 __UNKNOWN__ CCDS6176.1 . . . . . . . . . . C 32 5.182528 0.94885 . . ENSG00000177182 ENST00000519846;ENST00000325897 D;D 0.90844 -2.74;-2.74 5.43 5.43 0.79202 Cellular retinaldehyde-binding/triple function, C-terminal (5); 0.112886 0.64402 D 0.000008 D 0.96259 0.8780 M 0.88031 2.925 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 D 0.96452 0.9335 10 0.87932 D 0 -8.6114 19.4372 0.94801 0.0:1.0:0.0:0.0 . 268 Q8IUQ0 CLVS1_HUMAN S 268 ENSP00000428402:P268S;ENSP00000325506:P268S ENSP00000325506:P268S P + 1 0 CLVS1 62533480 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.236000 0.78154 2.827000 0.97445 0.650000 0.86243 CCC CLVS1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378323.1 + ENST00000519846.1 Missense_Mutation SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC Unknown 442237 bcgsc.ca 37 6 97096812 97096812 + RNA SNP G G A TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr6:97096812G>A FHL5 (32300 upstream) : RNU4-70P (516 downstream) TTTGGCTGCCGTAATATTCAG 0.498 0 SO:0001628 intergenic_variant 6.__UNKNOWN__:g.97096812G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC PITPNM3 83394 ucsc.edu 37 17 6386969 6386969 + Missense_Mutation SNP G G A TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr17:6386969G>A ENST00000262483.8 - 6.0 542 c.455C>T c.(454-456)gCc>gTc p.A152V PITPNM3_ENST00000421306.3_Missense_Mutation_p.A116V NM_031220.3 NP_112497.2 Q9BZ71 PITM3_HUMAN PITPNM family member 3 152.0 phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914) integral component of membrane (GO:0016021)|intracellular (GO:0005622) calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2) 36.0 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) GTGGATGTCGGCTGCCTTGCA 0.642 0 130.0 91.0 104.0 17 6386969.0 2203.0 4300.0 6503.0 SO:0001583 missense AF334586 CCDS11076.1, CCDS54080.1 17p13 2013-07-18 2013-07-18 2013-07-18 ENSG00000091622 ENSG00000091622 83394.0 83394.0 """GPCR / Class A : Chemokine receptors : Atypical""" 21043.0 protein-coding gene gene with protein product """atypical chemokine receptor 6""" 608921 """cone rod dystrophy 5""" CORD5 10022914 Standard NM_031220 NM_031220 Approved NIR1, RDGBA3, ACKR6 uc002gdd.4 Q9BZ71 OTTHUMG00000102039 ENST00000262483.8:c.455C>T 17.__UNKNOWN__:g.6386969G>A ENSP00000262483:p.Ala152Val A1A5D0|F8WEW5|Q59GH9|Q9NPQ4 __UNKNOWN__ CCDS11076.1 . . . . . . . . . . G 19.06 3.754689 0.69648 . . ENSG00000091622 ENST00000262483;ENST00000421306 T;T 0.19806 2.12;2.12 5.54 5.54 0.83059 . 0.319651 0.36665 N 0.002474 T 0.20414 0.0491 L 0.39898 1.24 0.44469 D 0.997403 B;P 0.49090 0.12;0.919 B;B 0.40165 0.142;0.321 T 0.00956 -1.1501 10 0.42905 T 0.14 -11.4546 17.3603 0.87348 0.0:0.0:1.0:0.0 . 116;152 F8WEW5;Q9BZ71 .;PITM3_HUMAN V 152;116 ENSP00000262483:A152V;ENSP00000407882:A116V ENSP00000262483:A152V A - 2 0 PITPNM3 6327693 0.939000 0.31865 0.980000 0.43619 0.977000 0.68977 1.798000 0.38814 2.779000 0.95612 0.655000 0.94253 GCC PITPNM3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000219824.2 - ENST00000262483.8 Missense_Mutation SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC TNRC18 84629 ucsc.edu 37 7 5417581 5417581 + Missense_Mutation SNP G G T TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr7:5417581G>T ENST00000399537.4 - 6.0 2575 c.2227C>A c.(2227-2229)Ctg>Atg p.L743M TNRC18_ENST00000430969.1_Missense_Mutation_p.L743M O15417 TNC18_HUMAN trinucleotide repeat containing 18 743.0 chromatin binding (GO:0003682) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11.0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) TCCCGGTCCAGCCGTGCCCCG 0.682 0 38.0 48.0 45.0 7 5417581.0 2080.0 4215.0 6295.0 SO:0001583 missense U80753 CCDS47534.1 7p22.1 2012-04-17 ENSG00000182095 ENSG00000182095 84629.0 84629.0 """Trinucleotide (CAG) repeat containing""" 11962.0 protein-coding gene gene with protein product 9225980 Standard NM_001080495 Approved CAGL79, TNRC18A, KIAA1856 uc003soi.4 O15417 OTTHUMG00000151831 ENST00000399537.4:c.2227C>A 7.__UNKNOWN__:g.5417581G>T ENSP00000382452:p.Leu743Met A8MX41|Q96JH1|Q96K91 __UNKNOWN__ . . . . . . . . . . G 10.75 1.436850 0.25900 . . ENSG00000182095 ENST00000399537;ENST00000430969;ENST00000413081 T;T 0.17854 2.25;2.25 4.14 3.23 0.37069 . . . . . T 0.34337 0.0894 M 0.63843 1.955 0.29860 N 0.827729 D 0.89917 1.0 D 0.85130 0.997 T 0.10245 -1.0638 9 0.66056 D 0.02 . 6.9457 0.24518 0.2711:0.0:0.7289:0.0 . 743 O15417 TNC18_HUMAN M 743;743;145 ENSP00000382452:L743M;ENSP00000395538:L743M ENSP00000382452:L743M L - 1 2 TNRC18 5384107 1.000000 0.71417 0.998000 0.56505 0.805000 0.45488 2.150000 0.42254 2.009000 0.58944 0.561000 0.74099 CTG TNRC18-001 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000324088.6 - ENST00000399537.4 Missense_Mutation SNP PCPG-TCGA-WB-A81S-Normal-SM-5EMNC C14orf159 80017 broad.mit.edu 37 14 91639743 91639743 + Silent SNP C C T TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr14:91639743C>T ENST00000523771.1 + 6.0 1155 c.552C>T c.(550-552)ctC>ctT p.L184L C14orf159_ENST00000518868.1_Silent_p.L189L|C14orf159_ENST00000256324.10_Silent_p.L189L|C14orf159_ENST00000525393.2_Silent_p.L60L|C14orf159_ENST00000428926.2_Silent_p.L184L|C14orf159_ENST00000521077.2_Silent_p.L189L|C14orf159_ENST00000522322.1_Silent_p.L184L|C14orf159_ENST00000523816.1_Silent_p.L184L|C14orf159_ENST00000520328.1_Silent_p.L184L|C14orf159_ENST00000412671.2_Silent_p.L189L Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 184.0 mitochondrion (GO:0005739) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21.0 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) GCTGCTCCCTCGGAGGTGAGC 0.612 OREG0022869 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 49.0 42.0 44.0 14 91639743.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK097294 CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1 14q32.11 2012-09-26 ENSG00000133943 ENSG00000133943 80017.0 80017.0 20498.0 protein-coding gene gene with protein product Standard NM_024952 NM_001102367 Approved FLJ39975 uc001xze.2 Q7Z3D6 OTTHUMG00000164980 ENST00000523771.1:c.552C>T 14.__UNKNOWN__:g.91639743C>T 1284.0 B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6 __UNKNOWN__ CCDS32141.1 C14orf159-014 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381273.1 + ENST00000523771.1 Silent SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr11:533874T>C ENST00000451590.1 - 3.0 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R NM_001130442.1|NM_005343.2 NP_001123914.1|NP_005334.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61.0 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022) p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901.0 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6.0 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) yes Dom yes Costello syndrome 11 11p15.5 3265.0 v-Ha-ras Harvey rat sarcoma viral oncogene homolog """E, L, M""" 256 Substitution - Missense(256) skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1) 117.0 102.0 107.0 11 533874.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database incl.: Facio-Cutaneous-Skeletal syndrome AJ437024 CCDS7698.1, CCDS7699.1 11p15.5 2014-09-17 2013-07-08 ENSG00000174775 ENSG00000174775 3265.0 3265.0 5173.0 protein-coding gene gene with protein product 190020 """v-Ha-ras Harvey rat sarcoma viral oncogene homolog""" HRAS1 Standard NM_176795 NM_176795 Approved uc010qvx.2 P01112 OTTHUMG00000131919 ENST00000451590.1:c.182A>G 11.__UNKNOWN__:g.533874T>C ENSP00000407586:p.Gln61Arg B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2 __UNKNOWN__ CCDS7698.1 . . . . . . . . . . T 14.48 2.546606 0.45383 . . ENSG00000174775 ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189 D;D;D;D;D 0.83673 -1.75;-1.75;-1.75;-1.75;-1.75 3.64 3.64 0.41730 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85613 0.5737 M 0.90870 3.155 0.80722 D 1 B;B 0.21071 0.051;0.008 B;B 0.22152 0.022;0.038 D 0.85970 0.1476 10 0.66056 D 0.02 . 11.8872 0.52608 0.0:0.0:0.0:1.0 . 61;61 P01112-2;P01112 .;RASH_HUMAN R 61 ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R ENSP00000309845:Q61R Q - 2 0 HRAS 523874 1.000000 0.71417 0.985000 0.45067 0.482000 0.33219 7.727000 0.84838 1.662000 0.50781 0.459000 0.35465 CAG HRAS-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259403.2 - ENST00000451590.1 Missense_Mutation SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ EYA3 2140 broad.mit.edu 37 1 28320051 28320051 + Missense_Mutation SNP T T A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr1:28320051T>A ENST00000373871.3 - 14.0 1403 c.1163A>T c.(1162-1164)gAt>gTt p.D388V EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_Missense_Mutation_p.D262V|EYA3_ENST00000540618.1_Missense_Mutation_p.D342V|EYA3_ENST00000373864.1_Missense_Mutation_p.D231V|EYA3_ENST00000545175.1_Missense_Mutation_p.D335V|EYA3_ENST00000373863.3_Missense_Mutation_p.D342V NM_001282561.1|NM_001282562.1 NP_001269490.1|NP_001269491.1 Q99504 EYA3_HUMAN EYA transcriptional coactivator and phosphatase 3 388.0 D -> N (in Ref. 1; CAA71311). {ECO:0000305}. anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601) cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 15.0 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) ACTGAAACCATCTGTTGAGAA 0.428 0 70.0 66.0 68.0 1 28320051.0 2203.0 4300.0 6503.0 SO:0001583 missense U81602 CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1 1p36 2014-06-19 2014-06-19 ENSG00000158161 ENSG00000158161 2140.0 2140.0 """Protein tyrosine phosphatases / Asp-based PTPs""" 3521.0 protein-coding gene gene with protein product 601655 """eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)""" 9020840 Standard NM_001990 NM_001990 Approved DKFZp686C132 uc001bpi.2 Q99504 OTTHUMG00000003916 ENST00000373871.3:c.1163A>T 1.__UNKNOWN__:g.28320051T>A ENSP00000362978:p.Asp388Val A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813 __UNKNOWN__ CCDS316.1 . . . . . . . . . . T 25.5 4.640166 0.87760 . . ENSG00000158161 ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175;ENST00000373863 D;D;D;D;D;D 0.94138 -1.58;-1.58;-1.58;-3.32;-3.36;-3.26 5.78 5.78 0.91487 EYA (1);Haloacid dehalogenase-like hydrolase (1); 0.000000 0.85682 D 0.000000 D 0.96445 0.8840 M 0.73962 2.25 0.80722 D 1 D;D;D 0.89917 0.998;1.0;1.0 D;D;D 0.91635 0.994;0.998;0.999 D 0.96928 0.9679 10 0.87932 D 0 -16.6893 16.1041 0.81209 0.0:0.0:0.0:1.0 . 342;342;388 B4DIR7;Q8IVX7;Q99504 .;.;EYA3_HUMAN V 388;262;231;342;335;342 ENSP00000362978:D388V;ENSP00000405587:D262V;ENSP00000362971:D231V;ENSP00000442558:D342V;ENSP00000442280:D335V;ENSP00000362970:D342V ENSP00000362970:D342V D - 2 0 EYA3 28192638 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.988000 0.88194 2.216000 0.71823 0.454000 0.30748 GAT EYA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000011184.1 - ENST00000373871.3 Missense_Mutation SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ BZW1 9689 broad.mit.edu 37 2 201686894 201686894 + Missense_Mutation SNP G G T TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr2:201686894G>T ENST00000409600.1 + 12.0 1708 c.1253G>T c.(1252-1254)gGt>gTt p.G418V BZW1_ENST00000409226.1_Missense_Mutation_p.G422V|BZW1_ENST00000452790.2_Missense_Mutation_p.G450V NM_001207067.1|NM_014670.3 NP_001193996.1|NP_055485.2 Q7L1Q6 BZW1_HUMAN basic leucine zipper and W2 domains 1 418.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|membrane (GO:0016020) poly(A) RNA binding (GO:0044822) breast(1)|kidney(2)|large_intestine(1)|lung(2) 6.0 GCTGAAGAAGGTGACTGAATT 0.373 0 85.0 75.0 78.0 2 201686894.0 1829.0 4079.0 5908.0 SO:0001583 missense D13630 CCDS56154.1, CCDS56155.1, CCDS56156.1 2q33 2010-04-09 ENSG00000082153 ENSG00000082153 9689.0 9689.0 18380.0 protein-coding gene gene with protein product 10964520, 11524015 Standard NM_014670 NM_001207067 Approved BZAP45, KIAA0005 uc021vus.1 Q7L1Q6 OTTHUMG00000154560 ENST00000409600.1:c.1253G>T 2.__UNKNOWN__:g.201686894G>T ENSP00000386474:p.Gly418Val B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0 __UNKNOWN__ CCDS56156.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 17.29|17.29 3.351933|3.351933 0.61183|0.61183 .|. .|. ENSG00000082153|ENSG00000082153 ENST00000409600;ENST00000409226;ENST00000452790|ENST00000359893 T;T;T|. 0.78126|. -1.1;-1.11;-1.15|. 4.77|4.77 4.77|4.77 0.60923|0.60923 .|. 0.245554|. 0.41605|. D|. 0.000847|. T|T 0.54806|0.54806 0.1881|0.1881 N|N 0.22421|0.22421 0.69|0.69 0.80722|0.80722 D|D 1|1 B;D|. 0.76494|. 0.32;0.999|. B;D|. 0.71184|. 0.14;0.972|. T|T 0.49698|0.49698 -0.8912|-0.8912 10|5 0.87932|. D|. 0|. -1.2981|-1.2981 18.3529|18.3529 0.90344|0.90344 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 450;418|. B4DLZ8;Q7L1Q6|. .;BZW1_HUMAN|. V|L 418;422;450|134 ENSP00000386474:G418V;ENSP00000386837:G422V;ENSP00000394316:G450V|. ENSP00000386837:G422V|. G|V +|+ 2|1 0|0 BZW1|BZW1 201395139|201395139 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.947000|0.947000 0.59692|0.59692 5.759000|5.759000 0.68785|0.68785 2.639000|2.639000 0.89480|0.89480 0.460000|0.460000 0.39030|0.39030 GGT|GTG BZW1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335975.1 + ENST00000409600.1 Missense_Mutation SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ ANK3 288 broad.mit.edu 37 10 61829127 61829127 + Missense_Mutation SNP G G A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr10:61829127G>A ENST00000280772.2 - 37.0 11703 c.11512C>T c.(11512-11514)Cac>Tac p.H3838Y ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3838.0 axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165) axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018) cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200) 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) 196.0 CTTACACAGTGTCCTTGTAGT 0.398 0 261.0 259.0 259.0 10 61829127.0 2203.0 4300.0 6503.0 SO:0001583 missense U13616 CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1 10q21 2013-01-10 ENSG00000151150 ENSG00000151150 288.0 288.0 """Ankyrin repeat domain containing""" 494.0 protein-coding gene gene with protein product """ankyrin-3, node of Ranvier"", ""ankyrin-G""" 600465 7665168 Standard NM_020987 NM_020987 Approved uc001jky.3 Q12955 OTTHUMG00000018288 ENST00000280772.2:c.11512C>T 10.__UNKNOWN__:g.61829127G>A ENSP00000280772:p.His3838Tyr B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5 __UNKNOWN__ CCDS7258.1 . . . . . . . . . . G 9.967 1.224436 0.22457 . . ENSG00000151150 ENST00000280772 T 0.41400 1.0 5.07 5.07 0.68467 . 0.159293 0.29403 N 0.012246 T 0.30135 0.0755 N 0.19112 0.55 0.80722 D 1 B 0.32573 0.376 B 0.21917 0.037 T 0.16394 -1.0404 10 0.56958 D 0.05 . 18.8003 0.92013 0.0:0.0:1.0:0.0 . 3838 Q12955 ANK3_HUMAN Y 3838 ENSP00000280772:H3838Y ENSP00000280772:H3838Y H - 1 0 ANK3 61499133 1.000000 0.71417 0.994000 0.49952 0.893000 0.52053 4.947000 0.63583 2.511000 0.84671 0.650000 0.86243 CAC ANK3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000048201.4 - ENST00000280772.2 Missense_Mutation SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ ZNF148 7707 broad.mit.edu 37 3 125032328 125032328 + Missense_Mutation SNP G G A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr3:125032328G>A ENST00000360647.4 - 4.0 642 c.157C>T c.(157-159)Cct>Tct p.P53S ZNF148_ENST00000485866.1_Missense_Mutation_p.P53S|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.P53S|ZNF148_ENST00000484491.1_Missense_Mutation_p.P53S|ZNF148_ENST00000544464.1_Intron NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 53.0 cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976) breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28.0 TCCTGGTGAGGCATACTTCGA 0.453 0 279.0 240.0 253.0 3 125032328.0 2203.0 4300.0 6503.0 SO:0001583 missense U09851 CCDS3031.1 3q21.2 2013-01-08 2006-06-13 ENSG00000163848 ENSG00000163848 7707.0 7707.0 """Zinc fingers, C2H2-type""" 12933.0 protein-coding gene gene with protein product 601897 """zinc finger protein 148 (pHZ-52)""" 7557990, 9925940 Standard NM_021964 NM_021964 Approved BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52 uc003ehx.4 Q9UQR1 OTTHUMG00000159448 ENST00000360647.4:c.157C>T 3.__UNKNOWN__:g.125032328G>A ENSP00000353863:p.Pro53Ser D3DN27|O00389|O43591|Q58EY5|Q6PJ98 __UNKNOWN__ CCDS3031.1 . . . . . . . . . . G 10.34 1.323898 0.24080 . . ENSG00000163848 ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574;ENST00000465763;ENST00000495019 T;T;T;T 0.07444 3.19;3.19;3.19;3.19 5.0 5.0 0.66597 . 0.246709 0.40064 N 0.001200 T 0.07007 0.0178 N 0.14661 0.345 0.80722 D 1 B 0.18741 0.03 B 0.23018 0.043 T 0.30268 -0.9984 10 0.62326 D 0.03 -13.2603 15.5613 0.76249 0.0:0.2033:0.7967:0.0 . 53 Q9UQR1 ZN148_HUMAN S 53 ENSP00000353863:P53S;ENSP00000420335:P53S;ENSP00000419322:P53S;ENSP00000420448:P53S ENSP00000353863:P53S P - 1 0 ZNF148 126515018 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 3.714000 0.54889 2.582000 0.87167 0.650000 0.86243 CCT ZNF148-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355452.4 - ENST00000360647.4 Missense_Mutation SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ IDE 3416 broad.mit.edu 37 10 94223489 94223489 + Splice_Site SNP T T A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr10:94223489T>A ENST00000265986.6 - 21.0 2816 c.2760A>T c.(2758-2760)agA>agT p.R920S IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Splice_Site_p.R365S NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 920.0 beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032) cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33.0 """""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)""" TTACCTTACCTCTGTCAAAAT 0.373 0 126.0 123.0 124.0 10 94223489.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant M21188 CCDS7421.1, CCDS53554.1 10q23-q25 2007-03-27 ENSG00000119912 ENSG00000119912 3416.0 3416.0 5381.0 protein-coding gene gene with protein product """insulysin""" 146680 2293021 Standard NM_004969 NM_004969 Approved uc001kia.3 P14735 OTTHUMG00000018759 ENST00000265986.6:c.2761+1A>T 10.__UNKNOWN__:g.94223489T>A B2R721|B7ZAU2|D3DR35|Q5T5N2 __UNKNOWN__ CCDS7421.1 . . . . . . . . . . T 20.4 3.989708 0.74589 . . ENSG00000119912 ENST00000265986;ENST00000371581 T;T 0.37058 1.26;1.22 5.61 5.61 0.85477 Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1); 0.000000 0.85682 D 0.000000 T 0.66036 0.2749 M 0.89287 3.02 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.988;0.999 T 0.69320 -0.5176 10 0.37606 T 0.19 -17.3606 16.0994 0.81158 0.0:0.0:0.0:1.0 . 920;365 P14735;B3KSB8 IDE_HUMAN;. S 920;365 ENSP00000265986:R920S;ENSP00000360637:R365S ENSP00000265986:R920S R - 3 2 IDE 94213469 1.000000 0.71417 1.000000 0.80357 0.447000 0.32167 4.806000 0.62569 2.261000 0.74972 0.533000 0.62120 AGA IDE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049393.1 Missense_Mutation - ENST00000265986.6 Splice_Site SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ TFAP2D 83741 broad.mit.edu 37 6 50683256 50683256 + Missense_Mutation SNP T T A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr6:50683256T>A ENST00000008391.3 + 2.0 695 c.467T>A c.(466-468)aTg>aAg p.M156K NM_172238.3 NP_758438.2 transcription factor AP-2 delta (activating enhancer binding protein 2 delta) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60.0 Lung NSC(77;0.0334) CAGTATGGAATGCACCCAGAT 0.617 0 59.0 65.0 63.0 6 50683256.0 2203.0 4300.0 6503.0 SO:0001583 missense AY028376 CCDS4933.1 6p12.3 2008-02-05 2004-10-26 2004-10-27 ENSG00000008197 83741.0 83741.0 15581.0 protein-coding gene gene with protein product 610161 """transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1""" TFAP2BL1 11733187 Standard NM_172238 NM_172238 Approved uc003paf.3 Q7Z6R9 ENST00000008391.3:c.467T>A 6.__UNKNOWN__:g.50683256T>A ENSP00000008391:p.Met156Lys __UNKNOWN__ CCDS4933.1 . . . . . . . . . . T 19.27 3.795143 0.70452 . . ENSG00000008197 ENST00000008391 D 0.97089 -4.24 5.06 5.06 0.68205 . 0.091627 0.64402 D 0.000001 D 0.88340 0.6410 N 0.08118 0 0.80722 D 1 B 0.12630 0.006 B 0.13407 0.009 D 0.85012 0.0906 10 0.39692 T 0.17 -14.3432 15.1213 0.72443 0.0:0.0:0.0:1.0 . 156 Q7Z6R9 AP2D_HUMAN K 156 ENSP00000008391:M156K ENSP00000008391:M156K M + 2 0 TFAP2D 50791215 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.766000 0.85320 2.031000 0.59945 0.533000 0.62120 ATG TFAP2D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040881.1 + ENST00000008391.3 Missense_Mutation SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ HSPA1L 0 broad.mit.edu 37 6 31779452 31779452 + Missense_Mutation SNP C C T TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr6:31779452C>T ENST00000375654.4 - 2.0 487 c.298G>A c.(298-300)Gga>Aga p.G100R HSPA1L_ENST00000417199.3_Missense_Mutation_p.G100R NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 100.0 binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986) blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199) ATP binding (GO:0005524)|unfolded protein binding (GO:0051082) breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34.0 GGCTTGCCTCCTTCATTAATC 0.413 0 112.0 112.0 112.0 6 31779452.0 2203.0 4300.0 6503.0 SO:0001583 missense D85730 CCDS34413.1 6p21.3 2014-01-21 2002-08-29 ENSG00000204390 ENSG00000204390 3305.0 3305.0 """Heat shock proteins / HSP70""" 5234.0 protein-coding gene gene with protein product 140559 """heat shock 70kD protein-like 1""" 9685725, 9349405 Standard NM_005527 Approved HSP70-HOM, hum70t uc003nxh.3 P34931 OTTHUMG00000031208 ENST00000375654.4:c.298G>A 6.__UNKNOWN__:g.31779452C>T ENSP00000364805:p.Gly100Arg A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1 __UNKNOWN__ CCDS34413.1 . . . . . . . . . . C 14.15 2.450430 0.43531 . . ENSG00000204390 ENST00000375654;ENST00000417199 T;T 0.03982 3.74;3.74 4.36 4.36 0.52297 . . . . . T 0.04048 0.0113 M 0.69463 2.115 0.54753 D 0.999984 B 0.11235 0.004 B 0.16289 0.015 T 0.08351 -1.0726 9 0.87932 D 0 . 14.4415 0.67321 0.0:1.0:0.0:0.0 . 100 P34931 HS71L_HUMAN R 100 ENSP00000364805:G100R;ENSP00000387691:G100R ENSP00000364805:G100R G - 1 0 HSPA1L 31887431 0.004000 0.15560 0.981000 0.43875 0.932000 0.56968 2.103000 0.41806 2.239000 0.73571 0.460000 0.39030 GGA HSPA1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076416.2 - ENST00000375654.4 Missense_Mutation SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ ANK3 288 broad.mit.edu 37 10 62039370 62039370 + Missense_Mutation SNP C C T TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr10:62039370C>T ENST00000280772.2 - 2.0 333 c.142G>A c.(142-144)Gca>Aca p.A48T ANK3_ENST00000503366.1_Missense_Mutation_p.A31T|ANK3_ENST00000373827.2_Missense_Mutation_p.A42T NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 48.0 axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165) axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018) cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200) 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) 196.0 GCTCGAGCTGCTCTTAAGTAA 0.343 0 106.0 115.0 112.0 10 62039370.0 2203.0 4300.0 6503.0 SO:0001583 missense U13616 CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1 10q21 2013-01-10 ENSG00000151150 ENSG00000151150 288.0 288.0 """Ankyrin repeat domain containing""" 494.0 protein-coding gene gene with protein product """ankyrin-3, node of Ranvier"", ""ankyrin-G""" 600465 7665168 Standard NM_020987 NM_020987 Approved uc001jky.3 Q12955 OTTHUMG00000018288 ENST00000280772.2:c.142G>A 10.__UNKNOWN__:g.62039370C>T ENSP00000280772:p.Ala48Thr B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5 __UNKNOWN__ CCDS7258.1 . . . . . . . . . . C 35 5.493426 0.96339 . . ENSG00000151150 ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000503925 T;T;T;T 0.80304 -1.36;-1.36;-1.36;-1.36 5.22 5.22 0.72569 Ankyrin repeat-containing domain (3); 0.000000 0.41938 D 0.000798 D 0.92120 0.7502 M 0.91972 3.26 0.80722 D 1 P;D;D 0.89917 0.912;0.994;1.0 P;D;D 0.91635 0.507;0.973;0.999 D 0.93455 0.6805 10 0.87932 D 0 . 18.974 0.92728 0.0:1.0:0.0:0.0 . 31;42;48 E9PE32;Q5CZH9;Q12955 .;.;ANK3_HUMAN T 48;42;31;10;31;22 ENSP00000280772:A48T;ENSP00000362933:A42T;ENSP00000425236:A31T;ENSP00000426011:A22T ENSP00000280772:A48T A - 1 0 ANK3 61709376 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 5.834000 0.69361 2.713000 0.92767 0.655000 0.94253 GCA ANK3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000048201.4 - ENST00000280772.2 Missense_Mutation SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ VPS37A 137492 broad.mit.edu 37 8 17123483 17123483 + Missense_Mutation SNP A A G TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr8:17123483A>G ENST00000324849.4 + 2.0 867 c.193A>G c.(193-195)Att>Gtt p.I65V VPS37A_ENST00000521829.1_Intron|VPS37A_ENST00000324815.3_Missense_Mutation_p.I65V NM_001145152.1|NM_152415.2 NP_001138624.1|NP_689628.2 Q8NEZ2 VP37A_HUMAN vacuolar protein sorting 37 homolog A (S. cerevisiae) 65.0 cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068) centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1) 10.0 Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212) GACAATTAACATTAATATGTG 0.284 0 95.0 96.0 96.0 8 17123483.0 2203.0 4295.0 6498.0 SO:0001583 missense CCDS6001.1, CCDS47811.1 8p22 2012-06-29 2006-04-04 ENSG00000155975 ENSG00000155975 137492.0 137492.0 24928.0 protein-coding gene gene with protein product """hepatocellular carcinoma related protein 1""" 609927 """vacuolar protein sorting 37A (yeast)"", ""polyglutamine binding protein 2""" PQBP2 15240819, 15218037, 22717650 Standard NM_152415 NM_152415 Approved FLJ32642, HCRP1, SPG53 uc003wxj.3 Q8NEZ2 OTTHUMG00000130785 ENST00000324849.4:c.193A>G 8.__UNKNOWN__:g.17123483A>G ENSP00000318629:p.Ile65Val Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9 __UNKNOWN__ CCDS6001.1 . . . . . . . . . . A 13.59 2.282261 0.40394 . . ENSG00000155975 ENST00000324849;ENST00000324815 T 0.56103 0.48 4.77 4.77 0.60923 Ubiquitin-conjugating enzyme/RWD-like (2); 0.050743 0.85682 D 0.000000 T 0.37705 0.1013 N 0.16656 0.425 0.38679 D 0.952493 B 0.21753 0.06 B 0.12837 0.008 T 0.31336 -0.9947 10 0.42905 T 0.14 -20.1891 14.9938 0.71415 1.0:0.0:0.0:0.0 . 65 Q8NEZ2 VP37A_HUMAN V 65 ENSP00000318629:I65V ENSP00000318173:I65V I + 1 0 VPS37A 17167854 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 5.061000 0.64319 2.084000 0.62774 0.528000 0.53228 ATT VPS37A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253301.2 + ENST00000324849.4 Missense_Mutation SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ USP17L2 377630 broad.mit.edu 37 8 11995945 11995945 + Silent SNP G G A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr8:11995945G>A ENST00000333796.3 - 1.0 641 c.325C>T c.(325-327)Ctg>Ttg p.L109L FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 109.0 USP. apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511) endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634) ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29.0 TCCCGGGACAGCATGTAGTTG 0.567 0 24.0 27.0 26.0 8 11995945.0 1192.0 2523.0 3715.0 SO:0001819 synonymous_variant BC156290 CCDS43713.1 8p23.1 2012-10-09 2012-10-09 ENSG00000223443 ENSG00000223443 377630.0 377630.0 34434.0 protein-coding gene gene with protein product """deubiquitinating enzyme 3""" 610186 """ubiquitin specific peptidase 17-like 2""" Standard NM_201402 NM_201402 Approved DUB3 uc003wvc.1 Q6R6M4 OTTHUMG00000165295 ENST00000333796.3:c.325C>T 8.__UNKNOWN__:g.11995945G>A __UNKNOWN__ CCDS43713.1 USP17L2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000383303.2 - ENST00000333796.3 Silent SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ STAC3 246329 broad.mit.edu 37 12 57642487 57642487 + Splice_Site SNP A A C TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr12:57642487A>C ENST00000332782.2 - 4.0 634 c.e4+1 STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Splice_Site NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741) identical protein binding (GO:0042802)|metal ion binding (GO:0046872) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18.0 CAGCCTACTCACGATCTTGCC 0.542 0 511.0 458.0 476.0 12 57642487.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AK057013 CCDS8936.1, CCDS66405.1, CCDS66406.1 12q13.3 2014-08-12 ENSG00000185482 ENSG00000185482 246329.0 246329.0 28423.0 protein-coding gene gene with protein product 615521 12477932 Standard NM_145064 NM_001286257 Approved MGC2793 uc009zpl.2 Q96MF2 OTTHUMG00000171271 ENST00000332782.2:c.432+1T>G 12.__UNKNOWN__:g.57642487A>C B4DUK9|Q96HU5 __UNKNOWN__ CCDS8936.1 . . . . . . . . . . A 22.6 4.313399 0.81358 . . ENSG00000185482 ENST00000554578;ENST00000332782;ENST00000553489 . . . 5.36 5.36 0.76844 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 14.6487 0.68780 1.0:0.0:0.0:0.0 . . . . . -1 . . . - . . STAC3 55928754 1.000000 0.71417 1.000000 0.80357 0.931000 0.56810 8.725000 0.91468 2.162000 0.67917 0.533000 0.62120 . STAC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000412724.2 Intron - ENST00000332782.2 Splice_Site SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ TMEM98 26022 broad.mit.edu 37 17 31260234 31260234 + Silent SNP G G A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr17:31260234G>A ENST00000579849.1 + 4.0 605 c.174G>A c.(172-174)gaG>gaA p.E58E TMEM98_ENST00000578289.1_Silent_p.E58E|TMEM98_ENST00000394642.3_Silent_p.E58E NM_015544.2 NP_056359.2 Q9Y2Y6 TMM98_HUMAN transmembrane protein 98 58.0 endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) kidney(2)|large_intestine(1) 3.0 Ovarian(249;0.182)|Breast(31;0.244) BRCA - Breast invasive adenocarcinoma(9;0.0769) CCCAGTCTGAGCCCTCTGAGT 0.532 0 131.0 115.0 120.0 17 31260234.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CR605381 CCDS11274.1 17q11.2 2005-12-16 ENSG00000006042 ENSG00000006042 26022.0 26022.0 24529.0 protein-coding gene gene with protein product 615949 11230166 Standard NM_015544 NM_001301746 Approved DKFZP564K1964 uc002hhr.3 Q9Y2Y6 OTTHUMG00000132882 ENST00000579849.1:c.174G>A 17.__UNKNOWN__:g.31260234G>A E1P631|Q9UFK2 __UNKNOWN__ CCDS11274.1 TMEM98-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256372.2 + ENST00000579849.1 Silent SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ DAB2IP 153090 broad.mit.edu 37 9 124530814 124530814 + Missense_Mutation SNP C C T TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr9:124530814C>T ENST00000309989.1 + 8.0 1576 c.1429C>T c.(1429-1431)Ctc>Ttc p.L477F DAB2IP_ENST00000259371.2_Missense_Mutation_p.L573F|DAB2IP_ENST00000408936.3_Missense_Mutation_p.L601F NM_138709.1 NP_619723.1 Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 601.0 Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}. activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324) axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886) 14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27.0 CCCCGAGACCCTCTCCAATAC 0.597 0 108.0 102.0 104.0 9 124530814.0 2203.0 4300.0 6503.0 SO:0001583 missense AF367051 CCDS6832.1, CCDS6833.2 9q33.1-q33.3 2008-07-21 ENSG00000136848 ENSG00000136848 153090.0 153090.0 17294.0 protein-coding gene gene with protein product """nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1""" 609205 11944990, 11812785 Standard NM_032552 XM_005251721 Approved AF9Q34, DIP1/2, KIAA1743, AIP1 uc004bln.3 Q5VWQ8 OTTHUMG00000020595 ENST00000309989.1:c.1429C>T 9.__UNKNOWN__:g.124530814C>T ENSP00000310827:p.Leu477Phe A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0 __UNKNOWN__ CCDS6832.1 . . . . . . . . . . C 17.37 3.373381 0.61624 . . ENSG00000136848 ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989 T;T;T;T 0.18502 2.21;2.21;2.21;2.21 4.82 -4.47 0.03525 Rho GTPase activation protein (1);Ras GTPase-activating protein (2); 0.278726 0.39759 N 0.001263 T 0.18882 0.0453 L 0.50333 1.59 0.31689 N 0.642167 P;D 0.53745 0.682;0.962 B;P 0.53518 0.204;0.728 T 0.09100 -1.0690 10 0.51188 T 0.08 . 6.7775 0.23628 0.3797:0.4083:0.212:0.0 . 601;573 Q5VWQ8;G3XA90 DAB2P_HUMAN;. F 573;601;510;477 ENSP00000259371:L573F;ENSP00000386183:L601F;ENSP00000362887:L510F;ENSP00000310827:L477F ENSP00000259371:L573F L + 1 0 DAB2IP 123570635 1.000000 0.71417 0.944000 0.38274 0.965000 0.64279 1.663000 0.37429 -1.090000 0.03069 -0.319000 0.08680 CTC DAB2IP-004 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000053898.1 + ENST00000309989.1 Missense_Mutation SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ VSIG4 11326 broad.mit.edu 37 X 65253674 65253674 + Splice_Site SNP T T C TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chrX:65253674T>C ENST00000374737.4 - 2.0 164 c.e2-2 VSIG4_ENST00000455586.2_Splice_Site|VSIG4_ENST00000412866.2_Splice_Site NM_001257403.1|NM_007268.2 NP_001244332.1|NP_009199.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29.0 TGGGACGGCCTGAAGAGGCGG 0.512 0 66.0 49.0 55.0 X 65253674.0 2203.0 4300.0 6503.0 SO:0001630 splice_region_variant AJ132502 CCDS14383.1, CCDS48132.1, CCDS55435.1 Xq12-q13.3 2013-01-29 ENSG00000155659 ENSG00000155659 11326.0 11326.0 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 17032.0 protein-coding gene gene with protein product 300353 10899594, 11004523, 17016555, 17016562 Standard NM_007268 NM_007268 Approved Z39IG uc004dwh.2 Q9Y279 OTTHUMG00000021727 ENST00000374737.4:c.56-2A>G X.__UNKNOWN__:g.65253674T>C Q6UXI4 __UNKNOWN__ CCDS14383.1 . . . . . . . . . . T 0.766 -0.767678 0.02974 . . ENSG00000155659 ENST00000374737;ENST00000455586;ENST00000412866;ENST00000423830 . . . 4.93 3.7 0.42460 . . . . . . . . . . . 0.20307 N 0.999918 . . . . . . . . . . . . . . 8.3335 0.32200 0.0:0.0:0.215:0.7849 . . . . . -1 . . . - . . VSIG4 65170399 0.503000 0.26115 0.102000 0.21198 0.006000 0.05464 0.684000 0.25364 1.623000 0.50342 0.481000 0.45027 . VSIG4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000056986.1 Intron - ENST00000374737.4 Splice_Site SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ RAB6A 5870 broad.mit.edu 37 11 73388973 73388973 + Silent SNP T T C TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr11:73388973T>C ENST00000310653.6 - 8.0 1098 c.597A>G c.(595-597)caA>caG p.Q199Q RAB6A_ENST00000541588.1_Silent_p.Q95Q|RAB6A_ENST00000536566.1_Silent_p.Q166Q|RAB6A_ENST00000336083.3_Silent_p.Q199Q NM_001077637.1|NM_002869.4 NP_001071105.1|NP_002860.2 P20340 RAB6A_HUMAN RAB6A, member RAS oncogene family 199.0 antigen processing and presentation (GO:0019882)|early endosome to Golgi transport (GO:0034498)|GTP catabolic process (GO:0006184)|minus-end-directed organelle transport along microtubule (GO:0072385)|peptidyl-cysteine methylation (GO:0018125)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|protein domain specific binding (GO:0019904) large_intestine(2)|lung(2) 4.0 CACTGACTGGTTGCTCCTGAG 0.418 0 147.0 137.0 140.0 11 73388973.0 2200.0 4293.0 6493.0 SO:0001819 synonymous_variant AF130986 CCDS8223.1, CCDS8224.1, CCDS58155.1, CCDS58156.1 11q13.3 2008-08-08 ENSG00000175582 ENSG00000175582 5870.0 5870.0 """RAB, member RAS oncogene""" 9786.0 protein-coding gene gene with protein product 179513 RAB6 Standard NM_001243718 Approved uc001ouf.3 P20340 OTTHUMG00000134308 ENST00000310653.6:c.597A>G 11.__UNKNOWN__:g.73388973T>C A8K133|B7Z772|F5H668|Q1W5D8|Q5U0A8|Q9UBE4 __UNKNOWN__ CCDS8223.1 . . . . . . . . . . T 5.332 0.246567 0.10130 . . ENSG00000175582 ENST00000541973 . . . 5.69 -4.2 0.03823 . . . . . T 0.47544 0.1451 . . . 0.80722 D 1 . . . . . . T 0.43245 -0.9403 4 . . . -0.009 5.653 0.17627 0.2604:0.4463:0.0:0.2933 . . . . S 192 . . N - 2 0 RAB6A 73066621 0.946000 0.32159 0.909000 0.35828 0.564000 0.35744 0.034000 0.13776 -0.818000 0.04329 -0.344000 0.07964 AAC RAB6A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000259240.3 - ENST00000310653.6 Silent SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ GABRR1 2569 broad.mit.edu 37 6 89926980 89926980 + Missense_Mutation SNP G G A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr6:89926980G>A ENST00000454853.2 - 1.0 172 c.62C>T c.(61-63)gCc>gTc p.A21V GABRR1_ENST00000435811.1_Missense_Mutation_p.A21V|GABRR1_ENST00000481493.1_5'UTR|GABRR1_ENST00000369451.3_Intron NM_001256704.1|NM_002042.4 NP_001243633.1|NP_002033.2 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 21.0 gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35.0 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897) GCTTTCAGTGGCCAAAACCCA 0.463 0 90.0 77.0 82.0 6 89926980.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS5019.2, CCDS59028.1, CCDS59029.1 6q15 2012-06-22 2012-02-03 ENSG00000146276 ENSG00000146276 2569.0 2569.0 """GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors""" 4090.0 protein-coding gene gene with protein product """GABA(A) receptor, rho 1""" 137161 """gamma-aminobutyric acid (GABA) receptor, rho 1""" 1849271, 1315307 Standard NM_002042 Approved uc003pna.2 P24046 OTTHUMG00000015195 ENST00000454853.2:c.62C>T 6.__UNKNOWN__:g.89926980G>A ENSP00000412673:p.Ala21Val A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06 __UNKNOWN__ CCDS5019.2 . . . . . . . . . . G 14.58 2.578032 0.45902 . . ENSG00000146276 ENST00000454853;ENST00000435811 T;T 0.40225 1.04;1.04 5.75 0.853 0.19001 . 0.752976 0.12053 N 0.503913 T 0.08537 0.0212 N 0.24115 0.695 0.23903 N 0.996517 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.0 T 0.37361 -0.9709 9 . . . -1.6306 4.7953 0.13269 0.2048:0.0:0.5362:0.259 . 21;21 P24046-2;P24046 .;GBRR1_HUMAN V 21 ENSP00000412673:A21V;ENSP00000394687:A21V . A - 2 0 GABRR1 89983699 0.998000 0.40836 0.200000 0.23457 0.991000 0.79684 1.407000 0.34657 -0.133000 0.11537 -0.188000 0.12872 GCC GABRR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041479.2 - ENST00000454853.2 Missense_Mutation SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ MCUR1 63933 broad.mit.edu 37 6 13794127 13794127 + Splice_Site SNP A A G TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr6:13794127A>G ENST00000379170.4 - 7.0 1046 c.908T>C c.(907-909)tTg>tCg p.L303S NM_001031713.3 NP_001026883.1 Q96AQ8 MCUR1_HUMAN mitochondrial calcium uniporter regulator 1 303.0 calcium ion import (GO:0070509)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561) integral component of mitochondrial inner membrane (GO:0031305) GTTTCTTACCAATGCCACTAT 0.373 0 199.0 175.0 183.0 6 13794127.0 2202.0 4299.0 6501.0 SO:0001630 splice_region_variant BC016850 CCDS35495.1 6p23 2013-03-13 2013-03-13 2013-03-13 ENSG00000050393 ENSG00000050393 63933.0 63933.0 21097.0 protein-coding gene gene with protein product """chromosome 6 open reading frame 79"", ""coiled-coil domain containing 90A""" C6orf79, CCDC90A 23178883 Standard NM_022102 NM_001031713 Approved FLJ20958 uc003nbc.2 Q96AQ8 OTTHUMG00000014279 ENST00000379170.4:c.909+1T>C 6.__UNKNOWN__:g.13794127A>G Q96JS7|Q9H7F8 __UNKNOWN__ CCDS35495.1 . . . . . . . . . . A 14.55 2.568903 0.45798 . . ENSG00000050393 ENST00000379170 T 0.36520 1.25 4.94 4.94 0.65067 . 0.495359 0.20954 N 0.082700 T 0.21590 0.0520 M 0.63428 1.95 0.80722 D 1 B 0.14438 0.01 B 0.15870 0.014 T 0.05632 -1.0873 10 0.26408 T 0.33 -0.675 13.925 0.63958 1.0:0.0:0.0:0.0 . 303 Q96AQ8 CC90A_HUMAN S 303 ENSP00000368468:L303S ENSP00000368468:L303S L - 2 0 CCDC90A 13902106 1.000000 0.71417 0.940000 0.37924 0.976000 0.68499 7.026000 0.76455 1.982000 0.57802 0.529000 0.55759 TTG MCUR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039909.3 Missense_Mutation - ENST00000379170.4 Splice_Site SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ MGAM 8972 broad.mit.edu 37 7 141730215 141730215 + Silent SNP T T C TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr7:141730215T>C ENST00000475668.2 + 11.0 1329 c.1275T>C c.(1273-1275)taT>taC p.Y425Y MGAM_ENST00000549489.2_Silent_p.Y425Y O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 425.0 Maltase. carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13.0 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ACTTCACTTATGATTCAGTGG 0.383 0 114.0 100.0 104.0 7 141730215.0 1852.0 4101.0 5953.0 SO:0001819 synonymous_variant AF016833 CCDS47727.1 7q34 2012-10-03 ENSG00000257335 ENSG00000257335 8972.0 8972.0 7043.0 protein-coding gene gene with protein product 154360 9446624 Standard NM_004668 Approved MGA uc003vwy.3 O43451 OTTHUMG00000158395 ENST00000475668.2:c.1275T>C 7.__UNKNOWN__:g.141730215T>C Q0VAX6|Q75ME7|Q86UM5 __UNKNOWN__ MGAM-007 PUTATIVE basic|appris_principal protein_coding protein_coding OTTHUMT00000351290.4 + ENST00000475668.2 Silent SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ SLC12A9 56996 broad.mit.edu 37 7 100457612 100457612 + Silent SNP G G A rs148126705 byFrequency TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr7:100457612G>A ENST00000354161.3 + 8.0 1208 c.1083G>A c.(1081-1083)tcG>tcA p.S361S SLC12A9_ENST00000540482.1_Silent_p.S361S|SLC12A9_ENST00000428758.1_Silent_p.S361S|SLC12A9_ENST00000415287.1_Silent_p.S272S|SLC12A9_ENST00000275729.3_Silent_p.S272S|SLC12A9_ENST00000475623.1_3'UTR NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 361.0 chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) cation:chloride symporter activity (GO:0015377) breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41.0 Lung NSC(181;0.041)|all_lung(186;0.0581) CCATGAGCTCGCTCATTGGTG 0.612 G 14.0 0.01 0.03 2184.0 0.0017 0.9999 , , 0.0004 0.0064 0.9931 LOWCOV,EXOME 0.0003 SNP 0 G 63,4343 59.3+/-96.0 1,61,2141 138.0 121.0 126.0 1083 -3.7 1.0 7 dbSNP_134 126.0 2,8598 2.2+/-6.3 0,2,4298 no coding-synonymous SLC12A9 NM_020246.2 1,63,6439 AA,AG,GG 0.0233,1.4299,0.4998 361/915 100457612.0 65,12941 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF284422 CCDS5707.1, CCDS59068.1, CCDS59069.1 7q22 2013-07-18 2013-07-18 ENSG00000146828 ENSG00000146828 56996.0 56996.0 """Solute carriers""" 17435.0 protein-coding gene gene with protein product """cation-chloride cotransporter-interacting protein""" 10871601, 11239002 Standard NM_020246 NM_020246 Approved CIP1 uc003uwp.4 Q9BXP2 OTTHUMG00000156045 ENST00000354161.3:c.1083G>A 7.__UNKNOWN__:g.100457612G>A B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5 __UNKNOWN__ CCDS5707.1 SLC12A9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000342837.1 + ENST00000354161.3 Silent SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ HYDIN 54768 broad.mit.edu 37 16 71054178 71054178 + Missense_Mutation SNP T T C rs117718337 TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr16:71054178T>C ENST00000393567.2 - 22.0 3379 c.3229A>G c.(3229-3231)Ata>Gta p.I1077V HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1077.0 I -> V (in dbSNP:rs6416709). cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591) cell projection (GO:0042995) p.I1077V(3)|p.I1029V(3) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43.0 Ovarian(137;0.0654) ATGTTCTTTATGGCCAAGGGC 0.418 6 Substitution - Missense(6) lung(2)|prostate(2)|endometrium(2) 129.0 123.0 125.0 16 71054178.0 1855.0 4094.0 5949.0 SO:0001583 missense AK074472 CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1 16q22.2 2014-02-05 2012-01-06 ENSG00000157423 ENSG00000157423 54768.0 54768.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 19368.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 31""" 610812 """hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)""" 12719380, 23022101 Standard NM_001198542 Approved DKFZp434D0513, KIAA1864, PPP1R31, CILD5 uc031qwy.1 Q4G0P3 OTTHUMG00000137584 ENST00000393567.2:c.3229A>G 16.__UNKNOWN__:g.71054178T>C ENSP00000377197:p.Ile1077Val A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5 __UNKNOWN__ CCDS59269.1 . . . . . . . . . . t 6.789 0.514533 0.12944 . . ENSG00000157423 ENST00000393567;ENST00000316490;ENST00000448089 T;T 0.06371 3.31;3.31 4.61 0.358 0.16084 . 0.892413 0.09073 U 0.852581 T 0.06096 0.0158 L 0.58101 1.795 0.80722 D 1 B 0.09022 0.002 B 0.10450 0.005 T 0.33059 -0.9883 10 0.18710 T 0.47 . 1.4303 0.02332 0.2901:0.0873:0.1652:0.4573 rs6416709;rs60865895 1077 F8WD23 . V 1077;1077;1029 ENSP00000377197:I1077V;ENSP00000398544:I1029V ENSP00000313052:I1077V I - 1 0 HYDIN 69611679 0.055000 0.20627 0.982000 0.44146 0.109000 0.19521 0.089000 0.15002 0.228000 0.21019 -0.676000 0.03789 ATA HYDIN-001 PUTATIVE not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000398624.3 - ENST00000393567.2 Missense_Mutation SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ RBBP7 5931 broad.mit.edu 37 X 16863186 16863186 + Missense_Mutation SNP G G A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chrX:16863186G>A ENST00000380084.4 - 12.0 1626 c.1382C>T c.(1381-1383)aCa>aTa p.T461I RBBP7_ENST00000380087.2_Missense_Mutation_p.T417I|RBBP7_ENST00000404022.1_Missense_Mutation_p.T408I NM_001198719.1 NP_001185648.1 Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 417.0 cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351) ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581) RNA binding (GO:0003723) 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) 25.0 Hepatocellular(33;0.0997) CAGTTCGGATGTCGTGACATC 0.378 0 158.0 125.0 136.0 X 16863186.0 2203.0 4300.0 6503.0 SO:0001583 missense U35143 CCDS14179.1, CCDS56598.1 Xp22.22 2013-01-10 2001-11-28 ENSG00000102054 ENSG00000102054 5931.0 5931.0 """WD repeat domain containing""" 9890.0 protein-coding gene gene with protein product """G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46""" 300825 """retinoblastoma-binding protein 7""" 7503932 Standard NM_002893 NM_002893 Approved RbAp46 uc004cxs.2 Q16576 OTTHUMG00000021198 ENST00000380084.4:c.1382C>T X.__UNKNOWN__:g.16863186G>A ENSP00000369424:p.Thr461Ile Q5JP00 __UNKNOWN__ CCDS56598.1 . . . . . . . . . . G 14.51 2.558272 0.45590 . . ENSG00000102054 ENST00000425696;ENST00000380087;ENST00000380084;ENST00000404022 T;T;T 0.71934 -0.41;-0.61;-0.48 5.74 5.74 0.90152 . 0.230415 0.51477 D 0.000089 T 0.66665 0.2812 L 0.43152 1.355 0.39401 D 0.966587 B;B;B 0.06786 0.001;0.0;0.001 B;B;B 0.14578 0.01;0.008;0.011 T 0.63673 -0.6584 10 0.56958 D 0.05 -33.7893 17.9851 0.89153 0.0:0.0:1.0:0.0 . 408;417;461 E9PC52;Q16576;Q5JP00 .;RBBP7_HUMAN;. I 77;417;461;408 ENSP00000369427:T417I;ENSP00000369424:T461I;ENSP00000386068:T408I ENSP00000369424:T461I T - 2 0 RBBP7 16773107 0.990000 0.36364 0.989000 0.46669 0.992000 0.81027 5.968000 0.70413 2.555000 0.86185 0.513000 0.50165 ACA RBBP7-008 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000055922.2 - ENST00000380084.4 Missense_Mutation SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ Unknown 283523 bcgsc.ca 37 13 19254943 19254943 + RNA SNP G G A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr13:19254943G>A LINC00387 (4640 upstream) : LINC00418 (37963 downstream) CAGCTTACCAGTTGAGAATGA 0.458 0 SO:0001628 intergenic_variant 13.__UNKNOWN__:g.19254943G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ NRN1L 123904 ucsc.edu 37 16 67919981 67919981 + Missense_Mutation SNP C C A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr16:67919981C>A ENST00000576147.1 + 2.0 391 c.97C>A c.(97-99)Ccc>Acc p.P33T NRN1L_ENST00000339176.3_Missense_Mutation_p.P106H|CTC-479C5.10_ENST00000572067.1_lincRNA Q496H8 NRN1L_HUMAN neuritin 1-like 0.0 nervous system development (GO:0007399) anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2) 7.0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119) CGCCAGGCCCCCCGTCCGAAT 0.627 C 2.0 0.0009 0.002 2184.0 0.0017 0.9999 , , 0.0002 0.0009 0.9524 EXOME 0.001 SNP 0 51.0 45.0 47.0 16 67919981.0 2198.0 4300.0 6498.0 SO:0001583 missense AY358782 CCDS10850.1 16q22.1 2008-02-05 ENSG00000188038 ENSG00000188038 123904.0 123904.0 29811.0 protein-coding gene gene with protein product 12975309 Standard NM_198443 NM_198443 Approved UNQ2446, MRCC2446 uc002euu.3 Q496H8 OTTHUMG00000137541 ENST00000576147.1:c.97C>A 16.__UNKNOWN__:g.67919981C>A ENSP00000464568:p.Pro33Thr Q6UWH7 __UNKNOWN__ 2 9.157509157509158E-4 1 0.0020325203252032522 0 0.0 1 0.0017482517482517483 0 0.0 C 14.49 2.551534 0.45487 . . ENSG00000188038 ENST00000339176 . . . 4.86 3.78 0.43462 . 0.073974 0.56097 D 0.000034 T 0.54078 0.1836 M 0.63428 1.95 0.22127 N 0.999349 D 0.71674 0.998 P 0.62740 0.906 T 0.40572 -0.9556 9 0.45353 T 0.12 . 9.7298 0.40355 0.3384:0.6616:0.0:0.0 . 106 Q496H8 NRN1L_HUMAN H 106 . ENSP00000342411:P106H P + 2 0 NRN1L 66477482 0.910000 0.30920 0.985000 0.45067 0.219000 0.24729 1.771000 0.38542 2.411000 0.81874 0.462000 0.41574 CCC NRN1L-002 PUTATIVE basic|appris_principal protein_coding protein_coding OTTHUMT00000437177.2 + ENST00000576147.1 Missense_Mutation SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ PDE9A 5152 hgsc.bcm.edu 37 21 44153530 44153530 + Missense_Mutation SNP G G A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr21:44153530G>A ENST00000335512.4 + 6.0 447 c.382G>A c.(382-384)Gtg>Atg p.V128M PDE9A_ENST00000398236.3_Missense_Mutation_p.V102M|PDE9A_ENST00000335440.6_Missense_Mutation_p.V86M|PDE9A_ENST00000328862.6_Missense_Mutation_p.V162M|PDE9A_ENST00000380328.2_Missense_Mutation_p.V135M|PDE9A_ENST00000349112.3_Missense_Mutation_p.V60M|PDE9A_ENST00000398234.3_Missense_Mutation_p.V87M|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398232.3_Missense_Mutation_p.V121M|PDE9A_ENST00000539837.1_Missense_Mutation_p.V60M|PDE9A_ENST00000398225.3_Missense_Mutation_p.V147M|PDE9A_ENST00000398227.3_Missense_Mutation_p.V28M|PDE9A_ENST00000398224.3_Missense_Mutation_p.V61M|PDE9A_ENST00000291539.6_Missense_Mutation_p.V188M|PDE9A_ENST00000398229.3_Missense_Mutation_p.V54M NM_001001567.1 NP_001001567.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 171.0 blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165) cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872) breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27.0 Caffeine(DB00201) AGAGAAACGCGTGGAATGTGA 0.408 0 124.0 104.0 111.0 21 44153530.0 2203.0 4300.0 6503.0 SO:0001583 missense AF048837 CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1 21q22.3 2005-11-29 ENSG00000160191 ENSG00000160191 5152.0 5152.0 3.1.4.17 """Phosphodiesterases""" 8795.0 protein-coding gene gene with protein product 602973 9624146 Standard NM_001001584 Approved uc002zbm.3 O76083 OTTHUMG00000086825 ENST00000335512.4:c.382G>A 21.__UNKNOWN__:g.44153530G>A ENSP00000335242:p.Val128Met B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0 __UNKNOWN__ CCDS33568.1 . . . . . . . . . . G 8.630 0.893418 0.17613 . . ENSG00000160191 ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224 T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.74002 -0.75;-0.65;-0.75;-0.7;-0.8;-0.75;-0.65;-0.76;-0.65;-0.76;-0.66;-0.64;-0.6;-0.65 5.61 4.64 0.57946 . 0.811929 0.10971 N 0.613811 T 0.67776 0.2929 N 0.17082 0.46 0.19775 N 0.999953 D;P;P;P;D;D;P;P;P;P;D;P;P;P 0.58970 0.957;0.633;0.633;0.872;0.984;0.957;0.899;0.871;0.871;0.926;0.957;0.872;0.923;0.798 P;B;B;B;P;B;B;B;B;B;P;B;B;B 0.47705 0.555;0.202;0.202;0.399;0.555;0.424;0.26;0.21;0.21;0.282;0.555;0.342;0.333;0.225 T 0.62034 -0.6939 10 0.49607 T 0.09 . 15.2681 0.73678 0.0:0.0:0.8508:0.1492 . 121;102;87;162;147;80;128;28;54;60;86;135;61;188 O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083 .;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN M 128;60;188;135;121;87;102;162;86;147;54;28;60;61 ENSP00000335242:V128M;ENSP00000441899:V60M;ENSP00000291539:V188M;ENSP00000369685:V135M;ENSP00000381287:V121M;ENSP00000381289:V87M;ENSP00000381291:V102M;ENSP00000328699:V162M;ENSP00000335365:V86M;ENSP00000381281:V147M;ENSP00000381285:V54M;ENSP00000381283:V28M;ENSP00000344730:V60M;ENSP00000381280:V61M ENSP00000291539:V188M V + 1 0 PDE9A 43026599 0.998000 0.40836 0.646000 0.29493 0.128000 0.20619 4.111000 0.57838 2.627000 0.88993 0.591000 0.81541 GTG PDE9A-008 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000195458.1 + ENST00000335512.4 Missense_Mutation SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ SH3GLB2 56904 hgsc.bcm.edu 37 9 131771494 131771494 + Missense_Mutation SNP G G A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr9:131771494G>A ENST00000372564.3 - 10.0 1116 c.971C>T c.(970-972)tCg>tTg p.S324L SH3GLB2_ENST00000417224.1_Missense_Mutation_p.S329L|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.S303L|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.S333L|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.S324L NM_020145.2 NP_064530.1 Q9NR46 SHLB2_HUMAN SH3-domain GRB2-like endophilin B2 324.0 cytoplasm (GO:0005737) NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1) 12.0 CAGGCAGAGCGAGGCCTCCCC 0.701 0 13.0 15.0 14.0 9 131771494.0 2195.0 4293.0 6488.0 SO:0001583 missense AF257319 CCDS6916.1, CCDS69680.1 9q34 2008-02-05 2001-12-04 ENSG00000148341 ENSG00000148341 56904.0 56904.0 10834.0 protein-coding gene gene with protein product 609288 """SH3-domain, GRB2-like, endophilin B2""" 11161816 Standard NM_020145 Approved KIAA1848 uc004bwv.3 Q9NR46 OTTHUMG00000020769 ENST00000372564.3:c.971C>T 9.__UNKNOWN__:g.131771494G>A ENSP00000361645:p.Ser324Leu A6NC47|A8MPS4|Q8WY61|Q96JH9 __UNKNOWN__ CCDS6916.1 . . . . . . . . . . G 11.95 1.792488 0.31685 . . ENSG00000148341 ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224;ENST00000416629 T;T;T;T;T 0.18810 2.22;2.22;2.22;2.22;2.19 5.14 5.14 0.70334 Src homology-3 domain (1); 0.280361 0.40144 N 0.001171 T 0.10078 0.0247 N 0.08118 0 0.09310 N 1 B;B 0.24092 0.037;0.097 B;B 0.14578 0.008;0.011 T 0.23976 -1.0173 10 0.20046 T 0.44 -9.678 11.3025 0.49314 0.0917:0.0:0.9083:0.0 . 333;324 Q9NR46-2;Q9NR46 .;SHLB2_HUMAN L 324;324;333;333;329;303 ENSP00000361645:S324L;ENSP00000361640:S324L;ENSP00000361634:S333L;ENSP00000402566:S329L;ENSP00000388282:S303L ENSP00000361634:S333L S - 2 0 SH3GLB2 130811315 0.553000 0.26513 0.029000 0.17559 0.141000 0.21300 3.930000 0.56522 2.824000 0.97209 0.655000 0.94253 TCG SH3GLB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054535.2 - ENST00000372564.3 Missense_Mutation SNP PCPG-TCGA-WB-A81T-Normal-SM-5EMMQ ZNF79 7633 broad.mit.edu 37 9 130197489 130197489 + Silent SNP C C T TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr9:130197489C>T ENST00000342483.5 + 3.0 632 c.226C>T c.(226-228)Cta>Tta p.L76L ZNF79_ENST00000543471.1_Silent_p.L52L NM_007135.2 NP_009066.2 Q15937 ZNF79_HUMAN zinc finger protein 79 76.0 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28.0 GAGCCTTGTCCTACTAGGTAA 0.478 0 91.0 89.0 90.0 9 130197489.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X65232 CCDS6871.1, CCDS69664.1, CCDS75904.1 9q34 2013-01-08 2006-05-12 ENSG00000196152 ENSG00000196152 7633.0 7633.0 """Zinc fingers, C2H2-type""" 13153.0 protein-coding gene gene with protein product 194552 """zinc finger protein 79 (pT7)""" 8478004 Standard NM_007135 NM_007135 Approved pT7 uc004bqw.4 Q15937 OTTHUMG00000020703 ENST00000342483.5:c.226C>T 9.__UNKNOWN__:g.130197489C>T Q5VVW1|Q96NV1 __UNKNOWN__ CCDS6871.1 ZNF79-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054188.1 + ENST00000342483.5 Silent SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO KLHL42 57542 broad.mit.edu 37 12 27933767 27933767 + Silent SNP C C T TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr12:27933767C>T ENST00000381271.2 + 1.0 815 c.504C>T c.(502-504)ctC>ctT p.L168L RP11-860B13.1_ENST00000545904.1_RNA NM_020782.1 NP_065833.1 Q9P2K6 KLH42_HUMAN kelch-like family member 42 168.0 mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886) Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) AGTTCCACCTCCTGGGGTCTC 0.672 0 43.0 47.0 46.0 12 27933767.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB037761 CCDS31763.1 12p11.22 2013-04-24 2013-02-22 2013-01-30 ENSG00000087448 ENSG00000087448 57542.0 57542.0 """Kelch-like""" 29252.0 protein-coding gene gene with protein product """kelch domain containing 5""" KLHDC5 19261606 Standard NM_020782 NM_020782 Approved KIAA1340, Ctb9 uc001rij.3 Q9P2K6 OTTHUMG00000169217 ENST00000381271.2:c.504C>T 12.__UNKNOWN__:g.27933767C>T Q2VPK1|Q8N334 __UNKNOWN__ CCDS31763.1 KLHL42-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402904.1 + ENST00000381271.2 Silent SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO OR52M1 119772 broad.mit.edu 37 11 4567013 4567013 + Missense_Mutation SNP A A G TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr11:4567013A>G ENST00000360213.1 + 1.0 593 c.593A>G c.(592-594)aAt>aGt p.N198S NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 198.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18.0 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) AGCAGGGTCAATAATGTCTAT 0.512 0 226.0 212.0 217.0 11 4567013.0 2201.0 4298.0 6499.0 SO:0001583 missense AB065789 CCDS31353.1 11p15.4 2012-08-09 2002-11-13 2002-11-15 ENSG00000197790 ENSG00000197790 119772.0 119772.0 """GPCR / Class A : Olfactory receptors""" 15225.0 protein-coding gene gene with protein product """olfactory receptor, family 52, subfamily M, member 1 pseudogene""" OR52M1P Standard NM_001004137 NM_001004137 Approved uc010qyf.2 Q8NGK5 OTTHUMG00000165706 ENST00000360213.1:c.593A>G 11.__UNKNOWN__:g.4567013A>G ENSP00000353343:p.Asn198Ser __UNKNOWN__ CCDS31353.1 . . . . . . . . . . A 8.695 0.908443 0.17833 . . ENSG00000197790 ENST00000360213 T 0.00211 8.54 5.01 3.9 0.45041 GPCR, rhodopsin-like superfamily (1); 0.000000 0.51477 D 0.000086 T 0.00241 0.0007 M 0.71206 2.165 0.34423 D 0.697646 B 0.24258 0.1 B 0.29176 0.099 T 0.48790 -0.9004 10 0.72032 D 0.01 . 7.5066 0.27549 0.8613:0.0:0.1387:0.0 . 198 Q8NGK5 O52M1_HUMAN S 198 ENSP00000353343:N198S ENSP00000353343:N198S N + 2 0 OR52M1 4523589 0.002000 0.14202 0.998000 0.56505 0.038000 0.13279 0.423000 0.21313 2.233000 0.73108 0.528000 0.53228 AAT OR52M1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385847.1 + ENST00000360213.1 Missense_Mutation SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO MAGEA6 4105 broad.mit.edu 37 X 151869868 151869868 + Silent SNP C C T TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chrX:151869868C>T ENST00000329342.5 + 3.0 783 c.558C>T c.(556-558)taC>taT p.Y186Y NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 186.0 MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}. breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28.0 Acute lymphoblastic leukemia(192;6.56e-05) GCCTCTCCTACGATGGCCTGC 0.557 0 111.0 106.0 108.0 X 151869868.0 2202.0 4298.0 6500.0 SO:0001819 synonymous_variant CCDS76050.1 Xq28 2009-03-13 ENSG00000197172 ENSG00000197172 4105.0 4105.0 6804.0 protein-coding gene gene with protein product """MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6""" 300176 MAGE6 8575766 Standard NM_005363 NM_005363 Approved CT1.6 uc004ffq.1 P43360 OTTHUMG00000022642 ENST00000329342.5:c.558C>T X.__UNKNOWN__:g.151869868C>T A8IF93|Q6NW44 __UNKNOWN__ CCDS14708.1 MAGEA6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058747.2 + ENST00000329342.5 Silent SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO ARID2 196528 broad.mit.edu 37 12 46245245 46245245 + Silent SNP G G A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr12:46245245G>A ENST00000334344.6 + 15.0 3511 c.3339G>A c.(3337-3339)ggG>ggA p.G1113G ARID2_ENST00000422737.1_Silent_p.G964G|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.G723G NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1113.0 Gln-rich. chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) 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) 116.0 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) GAGTGCAGGGGCAAACTCCAG 0.542 """N, S, F""" hepatocellular carcinoma Rec yes 12 12q12 196528.0 AT rich interactive domain 2 E 0 74.0 71.0 72.0 12 46245245.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS31783.1 12q13.11 2013-02-07 ENSG00000189079 ENSG00000189079 196528.0 196528.0 """-""" 18037.0 protein-coding gene gene with protein product 609539 Standard XM_350875 NM_152641 Approved KIAA1557, DKFZp686G052, FLJ30619, BAF200 uc001ros.1 Q68CP9 OTTHUMG00000150487 ENST00000334344.6:c.3339G>A 12.__UNKNOWN__:g.46245245G>A Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5 __UNKNOWN__ CCDS31783.1 ARID2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318380.2 + ENST00000334344.6 Silent SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO FOCAD 54914 broad.mit.edu 37 9 20933055 20933055 + Silent SNP G G A rs149998482 TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr9:20933055G>A ENST00000380249.1 + 30.0 3724 c.3360G>A c.(3358-3360)tcG>tcA p.S1120S FOCAD_ENST00000338382.6_Silent_p.S1120S|FOCAD_ENST00000605086.1_Silent_p.S556S NM_017794.3 NP_060264.3 Q5VW36 FOCAD_HUMAN focadhesin 1120.0 focal adhesion (GO:0005925)|integral component of membrane (GO:0016021) TGATGAAGTCGTTGGATGCCC 0.378 0 G 0,4406 0,0,2203 197.0 178.0 184.0 3360 -2.5 1.0 9 dbSNP_134 184.0 4,8596 3.7+/-12.6 0,4,4296 no coding-synonymous KIAA1797 NM_017794.3 0,4,6499 AA,AG,GG 0.0465,0.0,0.0308 1120/1802 20933055.0 4,13002 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB058700 CCDS34993.1 9p21 2012-03-23 2012-03-23 2012-03-23 ENSG00000188352 ENSG00000188352 54914.0 54914.0 23377.0 protein-coding gene gene with protein product 614606 """KIAA1797""" KIAA1797 22427331 Standard NM_017794 XM_006716794 Approved FLJ20375 uc003zog.1 Q5VW36 OTTHUMG00000066930 ENST00000380249.1:c.3360G>A 9.__UNKNOWN__:g.20933055G>A D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87 __UNKNOWN__ CCDS34993.1 FOCAD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000143442.1 + ENST00000380249.1 Silent SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO RYR1 6261 broad.mit.edu 37 19 39026679 39026679 + Missense_Mutation SNP G G C TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr19:39026679G>C ENST00000359596.3 + 82.0 11559 c.11559G>C c.(11557-11559)gaG>gaC p.E3853D RYR1_ENST00000355481.4_Missense_Mutation_p.E3848D|RYR1_ENST00000360985.3_Missense_Mutation_p.E3853D|AC067969.2_ENST00000595853.1_RNA P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3853.0 calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802) calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245) 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) 285.0 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786) ACAAGGCCGAGGGGCTGGGCA 0.577 0 131.0 115.0 121.0 19 39026679.0 2203.0 4300.0 6503.0 SO:0001583 missense J05200 CCDS33011.1, CCDS42563.1 19q13.1 2014-09-17 ENSG00000196218 6261.0 6261.0 """Ion channels / Ryanodine receptors""" 10483.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 137""" 180901 """central core disease of muscle""" MHS, MHS1, CCO 1862346, 16621918 Standard NM_000540 Approved RYR, PPP1R137 uc002oit.3 P21817 ENST00000359596.3:c.11559G>C 19.__UNKNOWN__:g.39026679G>C ENSP00000352608:p.Glu3853Asp Q16314|Q16368|Q9NPK1|Q9P1U4 __UNKNOWN__ CCDS33011.1 . . . . . . . . . . G 10.21 1.286146 0.23478 . . ENSG00000196218 ENST00000359596;ENST00000355481;ENST00000360985 D;D;D 0.91792 -2.91;-2.91;-2.91 4.38 1.01 0.19927 . 0.000000 0.64402 U 0.000002 D 0.94785 0.8316 M 0.83483 2.645 0.35816 D 0.824231 D;D;D 0.67145 0.996;0.996;0.994 D;D;D 0.76071 0.987;0.987;0.97 D 0.93914 0.7199 10 0.87932 D 0 . 7.0499 0.25067 0.4704:0.0:0.5296:0.0 . 3853;3848;3853 P21817-3;P21817-2;P21817 .;.;RYR1_HUMAN D 3853;3848;3853 ENSP00000352608:E3853D;ENSP00000347667:E3848D;ENSP00000354254:E3853D ENSP00000347667:E3848D E + 3 2 RYR1 43718519 0.998000 0.40836 1.000000 0.80357 0.996000 0.88848 0.441000 0.21611 0.124000 0.18369 0.655000 0.94253 GAG RYR1-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000462137.1 + ENST00000359596.3 Missense_Mutation SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr10:51093329C>T ENST00000402038.3 - 4.0 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584.0 A-domain. carbohydrate metabolic process (GO:0005975) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634) poly(ADP-ribose) glycohydrolase activity (GO:0004649) p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10.0 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318 1 Substitution - Missense(1) kidney(1) 235.0 183.0 198.0 10 51093329.0 692.0 1589.0 2281.0 SO:0001583 missense AF005043 CCDS73130.1 10q11.23 2012-04-20 ENSG00000227345 ENSG00000227345 8505.0 8505.0 3.2.1.143 8605.0 protein-coding gene gene with protein product 603501 9115250, 10449915 Standard NM_003631 NM_003631 Approved uc001jif.3 Q86W56 OTTHUMG00000018201 ENST00000402038.3:c.295G>A 10.__UNKNOWN__:g.51093329C>T ENSP00000384408:p.Ala99Thr A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7 __UNKNOWN__ . . . . . . . . . . C 12.89 2.073258 0.36566 . . ENSG00000227345 ENST00000402038 . . . 3.88 2.96 0.34315 . . . . . T 0.46678 0.1405 M 0.61703 1.905 . . . B;B;P;P;P;B 0.41947 0.002;0.003;0.574;0.766;0.766;0.006 B;B;B;B;B;B 0.38616 0.006;0.006;0.191;0.179;0.277;0.01 T 0.56631 -0.7947 7 0.18710 T 0.47 -4.0352 11.9338 0.52862 0.0:0.9123:0.0:0.0877 . 502;584;135;99;124;584 Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4 .;PARG_HUMAN;.;.;.;. T 99 . ENSP00000384408:A99T A - 1 0 PARG 50763335 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 1.907000 0.39897 0.952000 0.37798 0.407000 0.27541 GCA PARG-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal protein_coding protein_coding OTTHUMT00000048011.2 - ENST00000402038.3 Missense_Mutation SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO RDH8 50700 broad.mit.edu 37 19 10132233 10132233 + Silent SNP G G A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr19:10132233G>A ENST00000591589.1 + 6.0 993 c.804G>A c.(802-804)tcG>tcA p.S268S RDH8_ENST00000171214.1_Silent_p.S248S Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 248.0 estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601) cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887) estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745) endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21.0 Epithelial(33;4.24e-05) Vitamin A(DB00162) TCATCAGCTCGACTCGACCAC 0.632 G 1.0 0.0005 0.0028 2184.0 0.9999 , , 0.0003 0.0005 0.9049 LOWCOV,EXOME 0.0003 SNP 0 88.0 80.0 83.0 19 10132233.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF229845 CCDS12223.1, CCDS12223.2 19p13.2 2011-09-14 ENSG00000080511 50700.0 50700.0 1.1.1.- """Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2""" 14423.0 protein-coding gene gene with protein product """short chain dehydrogenase/reductase family 28C, member 2""" 608575 10753906, 19027726 Standard NM_015725 Approved PRRDH, SDR28C2 uc002mmr.4 Q9NYR8 ENST00000591589.1:c.804G>A 19.__UNKNOWN__:g.10132233G>A Q9H838 __UNKNOWN__ CCDS12223.2 RDH8-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000451125.1 + ENST00000591589.1 Silent SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO KDM5B 10765 broad.mit.edu 37 1 202700150 202700150 + Silent SNP G G A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr1:202700150G>A ENST00000367265.3 - 25.0 5227 c.4063C>T c.(4063-4065)Ctg>Ttg p.L1355L KDM5B_ENST00000367264.2_Silent_p.L1391L NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1355.0 histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6.0 ACCTGGAGCAGCTGGGCTTCC 0.448 0 90.0 82.0 85.0 1 202700150.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AJ243706 CCDS30974.1 1q32.1 2014-06-12 2009-04-06 2009-04-06 ENSG00000117139 ENSG00000117139 10765.0 10765.0 """Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type""" 18039.0 protein-coding gene gene with protein product """cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98""" 605393 """Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B""" JARID1B 11483573, 11478881 Standard NM_006618 NM_006618 Approved RBBP2H1A, PLU-1, CT31, PPP1R98 uc001gyf.3 Q9UGL1 OTTHUMG00000041401 ENST00000367265.3:c.4063C>T 1.__UNKNOWN__:g.202700150G>A O95811|Q15752|Q9Y3Q5 __UNKNOWN__ CCDS30974.1 KDM5B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000099184.2 - ENST00000367265.3 Silent SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO NF1 4763 broad.mit.edu 37 17 29657338 29657338 + Nonsense_Mutation SNP T T A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr17:29657338T>A ENST00000358273.4 + 39.0 6017 c.5634T>A c.(5632-5634)tgT>tgA p.C1878* NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.C1857* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1878.0 actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060) axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634) phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099) 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) 599.0 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) ATCTTCTGTGTGCCTTAACTT 0.338 """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) yes Rec yes Neurofibromatosis type 1 17 17q12 4763.0 neurofibromatosis type 1 gene O 11 Whole gene deletion(8)|Unknown(3) soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1) 97.0 94.0 95.0 17 29657338.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained Familial Cancer Database NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome CCDS11264.1, CCDS42292.1, CCDS45645.1 17q11.2 2014-09-17 2008-07-31 ENSG00000196712 ENSG00000196712 4763.0 4763.0 7765.0 protein-coding gene gene with protein product """neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease""" 613113 1715669 Standard NM_000267 NM_000267 Approved uc002hgg.3 P21359 OTTHUMG00000132871 ENST00000358273.4:c.5634T>A 17.__UNKNOWN__:g.29657338T>A ENSP00000351015:p.Cys1878* O00662|Q14284|Q14930|Q14931|Q9UMK3 __UNKNOWN__ CCDS42292.1 . . . . . . . . . . T 45 11.401226 0.99556 . . ENSG00000196712 ENST00000358273;ENST00000356175;ENST00000456735 . . . 5.6 5.6 0.85130 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 . 14.9706 0.71232 0.0:0.0:0.0:1.0 . . . . X 1878;1857;1523 . ENSP00000348498:C1857X C + 3 2 NF1 26681464 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 4.813000 0.62620 2.123000 0.65237 0.528000 0.53228 TGT NF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256351.2 + ENST00000358273.4 Nonsense_Mutation SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO BPIFA1 51297 broad.mit.edu 37 20 31825987 31825987 + Missense_Mutation SNP C C T TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr20:31825987C>T ENST00000354297.4 + 3.0 358 c.287C>T c.(286-288)aCg>aTg p.T96M BPIFA1_ENST00000375422.2_Missense_Mutation_p.T96M|BPIFA1_ENST00000375413.4_Missense_Mutation_p.T96M NM_130852.2 NP_570913.1 Q9NP55 BPIA1_HUMAN BPI fold containing family A, member 1 96.0 antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305) extracellular region (GO:0005576)|extracellular space (GO:0005615) lipid binding (GO:0008289) p.T96M(1) GGAAAAGTGACGTCAGTGATT 0.537 1 Substitution - Missense(1) large_intestine(1) 86.0 79.0 81.0 20 31825987.0 2203.0 4300.0 6503.0 SO:0001583 missense AB024937 CCDS13217.1 20q11.21 2011-08-04 2011-07-29 2011-07-29 ENSG00000198183 ENSG00000198183 51297.0 51297.0 """BPI fold containing""" 15749.0 protein-coding gene gene with protein product 607412 """palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated""" PLUNC 11018263, 11251963, 21787333 Standard NM_130852 NM_130852 Approved LUNX, bA49G10.5, SPLUNC1 uc002wyv.3 Q9NP55 OTTHUMG00000032243 ENST00000354297.4:c.287C>T 20.__UNKNOWN__:g.31825987C>T ENSP00000346251:p.Thr96Met A8K9R3|E1P5M9|Q9NZT0 __UNKNOWN__ CCDS13217.1 . . . . . . . . . . C 11.12 1.544359 0.27563 . . ENSG00000198183 ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328 T;T;T 0.12361 2.69;2.69;2.69 5.34 2.28 0.28536 . 0.503596 0.20012 N 0.101084 T 0.18882 0.0453 L 0.51422 1.61 0.09310 N 1 D 0.64830 0.994 P 0.55667 0.781 T 0.04870 -1.0921 10 0.40728 T 0.16 -1.3225 5.0252 0.14381 0.1666:0.657:0.0:0.1764 . 96 Q9NP55 BPIA1_HUMAN M 96;96;96;82 ENSP00000364571:T96M;ENSP00000346251:T96M;ENSP00000364562:T96M ENSP00000346251:T96M T + 2 0 BPIFA1 31289648 0.001000 0.12720 0.204000 0.23530 0.008000 0.06430 -0.057000 0.11768 0.808000 0.34231 0.655000 0.94253 ACG BPIFA1-002 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078667.2 + ENST00000354297.4 Missense_Mutation SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO CACNA1G 8913 broad.mit.edu 37 17 48650206 48650206 + Silent SNP C C A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr17:48650206C>A ENST00000515411.1 + 6.0 1038 c.1038C>A c.(1036-1038)gcC>gcA p.A346A CACNA1G_ENST00000512389.1_Silent_p.A346A|CACNA1G_ENST00000510115.1_Silent_p.A346A|CACNA1G_ENST00000502264.1_Silent_p.A346A|CACNA1G_ENST00000515765.1_Silent_p.A346A|CACNA1G_ENST00000429973.2_Silent_p.A346A|CACNA1G_ENST00000510366.1_Silent_p.A346A|CACNA1G_ENST00000515165.1_Silent_p.A346A|CACNA1G_ENST00000505165.1_Silent_p.A346A|CACNA1G_ENST00000358244.5_Silent_p.A346A|CACNA1G_ENST00000416767.4_Silent_p.A346A|CACNA1G_ENST00000514181.1_Silent_p.A346A|CACNA1G_ENST00000507336.1_Silent_p.A346A|CACNA1G_ENST00000513689.2_Silent_p.A346A|CACNA1G_ENST00000359106.5_Silent_p.A346A|CACNA1G_ENST00000360761.4_Silent_p.A346A|CACNA1G_ENST00000507896.1_Silent_p.A346A|CACNA1G_ENST00000503485.1_Silent_p.A346A|CACNA1G_ENST00000354983.4_Silent_p.A346A|CACNA1G_ENST00000514717.1_Silent_p.A346A|CACNA1G_ENST00000507510.2_Silent_p.A346A|CACNA1G_ENST00000442258.2_Silent_p.A346A|CACNA1G_ENST00000513964.1_Silent_p.A346A|CACNA1G_ENST00000514079.1_Silent_p.A346A|CACNA1G_ENST00000352832.5_Silent_p.A346A|CACNA1G_ENST00000507609.1_Silent_p.A346A NM_001256324.1 NP_001243253.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 346.0 axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810) plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110) breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47.0 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CCTGGATCGCCATCTTCCAGG 0.617 0 59.0 64.0 62.0 17 48650206.0 2024.0 4158.0 6182.0 SO:0001819 synonymous_variant AC004590 CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1 17q22 2012-03-07 2007-02-16 ENSG00000006283 ENSG00000006283 8913.0 8913.0 """Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels""" 1394.0 protein-coding gene gene with protein product 604065 9495342, 16382099 Standard NM_018896 NM_001256334 Approved Cav3.1, NBR13 uc002irk.2 O43497 OTTHUMG00000162180 ENST00000515411.1:c.1038C>A 17.__UNKNOWN__:g.48650206C>A D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3 __UNKNOWN__ CCDS58568.1 CACNA1G-034 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000367938.1 + ENST00000515411.1 Silent SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO ZNF564 163050 broad.mit.edu 37 19 12638192 12638192 + Missense_Mutation SNP T T C TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr19:12638192T>C ENST00000339282.7 - 4.0 926 c.730A>G c.(730-732)Atg>Gtg p.M244V ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR NM_144976.3 NP_659413.1 Q8TBZ8 ZN564_HUMAN zinc finger protein 564 244.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18.0 TGCCTAATCATGTGTCTTTGA 0.388 0 83.0 92.0 89.0 19 12638192.0 2175.0 4295.0 6470.0 SO:0001583 missense BC028367 CCDS42505.1 19p13.2 2013-09-19 ENSG00000249709 ENSG00000249709 163050.0 163050.0 """Zinc fingers, C2H2-type"", ""-""" 31106.0 protein-coding gene gene with protein product Standard NM_144976 NM_144976 Approved MGC26914 Q8TBZ8 OTTHUMG00000156418 ENST00000339282.7:c.730A>G 19.__UNKNOWN__:g.12638192T>C ENSP00000340004:p.Met244Val B9EGT4|Q6P1K6 __UNKNOWN__ CCDS42505.1 . . . . . . . . . . T 11.32 1.604332 0.28534 . . ENSG00000249709 ENST00000339282 T 0.18960 2.18 1.57 -2.73 0.05950 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.12263 0.0298 N 0.11673 0.155 0.09310 N 0.999999 B 0.23591 0.088 B 0.36608 0.229 T 0.44574 -0.9319 9 0.66056 D 0.02 . 5.1631 0.15071 0.0:0.1761:0.4708:0.3531 . 244 Q8TBZ8 ZN564_HUMAN V 244 ENSP00000340004:M244V ENSP00000340004:M244V M - 1 0 ZNF564 12499192 0.000000 0.05858 0.000000 0.03702 0.972000 0.66771 -2.132000 0.01309 -0.779000 0.04560 0.448000 0.29417 ATG ZNF564-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000344120.2 - ENST00000339282.7 Missense_Mutation SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO TTLL12 23170 broad.mit.edu 37 22 43567862 43567862 + Missense_Mutation SNP G G A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr22:43567862G>A ENST00000216129.6 - 11.0 1601 c.1538C>T c.(1537-1539)aCg>aTg p.T513M NM_015140.3 NP_055955.1 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 513.0 TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}. cellular protein modification process (GO:0006464) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13.0 Ovarian(80;0.221)|Glioma(61;0.222) GTTCATGACCGTGAAGTGCTT 0.587 0 154.0 108.0 124.0 22 43567862.0 2203.0 4300.0 6503.0 SO:0001583 missense D63487 CCDS14047.1 22q13.31 2013-02-14 2006-02-02 ENSG00000100304 ENSG00000100304 23170.0 23170.0 """Tubulin tyrosine ligase-like family""" 28974.0 protein-coding gene gene with protein product 15890843 Standard NM_015140 NM_015140 Approved KIAA0153 uc003bdp.3 Q14166 OTTHUMG00000150682 ENST00000216129.6:c.1538C>T 22.__UNKNOWN__:g.43567862G>A ENSP00000216129:p.Thr513Met Q20WK5|Q9UGU3 __UNKNOWN__ CCDS14047.1 . . . . . . . . . . G 24.6 4.552069 0.86127 . . ENSG00000100304 ENST00000216129;ENST00000423379 T 0.15718 2.4 5.13 5.13 0.70059 . 0.000000 0.85682 D 0.000000 T 0.54255 0.1847 M 0.93420 3.415 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 T 0.66972 -0.5788 10 0.87932 D 0 -9.935 17.7619 0.88467 0.0:0.0:1.0:0.0 . 513;513 B1AH89;Q14166 .;TTL12_HUMAN M 513 ENSP00000216129:T513M ENSP00000216129:T513M T - 2 0 TTLL12 41897806 1.000000 0.71417 0.977000 0.42913 0.785000 0.44390 8.575000 0.90766 2.648000 0.89879 0.655000 0.94253 ACG TTLL12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000319611.1 - ENST00000216129.6 Missense_Mutation SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO MARCH4 57574 broad.mit.edu 37 2 217124370 217124370 + Missense_Mutation SNP G G A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr2:217124370G>A ENST00000273067.4 - 4.0 2664 c.898C>T c.(898-900)Cgc>Tgc p.R300C AC012513.6_ENST00000417481.1_RNA NM_020814.2 NP_065865.1 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase 300.0 Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1) 20.0 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) TTAAAGATGCGGTACACCGAG 0.537 0 68.0 59.0 62.0 2 217124370.0 2203.0 4300.0 6503.0 SO:0001583 missense AB037820 CCDS33376.1 2q35 2013-01-09 2012-02-23 ENSG00000144583 ENSG00000144583 57574.0 57574.0 """MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers""" 29269.0 protein-coding gene gene with protein product 608208 """membrane-associated ring finger (C3HC4) 4""" 10718198, 14722266 Standard NM_020814 NM_020814 Approved KIAA1399, MARCH-IV, RNF174 uc002vgb.3 Q9P2E8 OTTHUMG00000154824 ENST00000273067.4:c.898C>T 2.__UNKNOWN__:g.217124370G>A ENSP00000273067:p.Arg300Cys Q4KMN7|Q86WR8 __UNKNOWN__ CCDS33376.1 . . . . . . . . . . G 24.1 4.498448 0.85069 . . ENSG00000144583 ENST00000273067 T 0.60797 0.16 4.97 4.97 0.65823 . 0.104769 0.64402 D 0.000002 T 0.75034 0.3795 M 0.68952 2.095 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.78056 -0.2353 10 0.87932 D 0 -13.8759 17.587 0.87984 0.0:0.0:1.0:0.0 . 300 Q9P2E8 MARH4_HUMAN C 300 ENSP00000273067:R300C ENSP00000273067:R300C R - 1 0 MARCH4 216832615 1.000000 0.71417 0.996000 0.52242 0.976000 0.68499 7.820000 0.86633 2.473000 0.83533 0.561000 0.74099 CGC MARCH4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337272.2 - ENST00000273067.4 Missense_Mutation SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO PAPPA2 60676 broad.mit.edu 37 1 176675578 176675578 + Missense_Mutation SNP A A G TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr1:176675578A>G ENST00000367662.3 + 10.0 4613 c.3449A>G c.(3448-3450)aAc>aGc p.N1150S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1150.0 bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020) metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) 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) 226.0 GAAGGTTTCAACTGTGTAGGT 0.423 0 213.0 217.0 216.0 1 176675578.0 1944.0 4153.0 6097.0 SO:0001583 missense BG354569 CCDS41438.1, CCDS41439.1 1q23-q25 2008-05-23 2004-07-07 2004-07-09 ENSG00000116183 ENSG00000116183 60676.0 60676.0 14615.0 protein-coding gene gene with protein product """placenta-specific 3""" PLAC3 11018262, 11264294 Standard NM_021936 Approved PAPPE, PAPP-A2 uc001gkz.3 Q9BXP8 OTTHUMG00000035025 ENST00000367662.3:c.3449A>G 1.__UNKNOWN__:g.176675578A>G ENSP00000356634:p.Asn1150Ser A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9 __UNKNOWN__ CCDS41438.1 . . . . . . . . . . A 12.46 1.943844 0.34283 . . ENSG00000116183 ENST00000367662 T 0.44083 0.93 5.65 5.65 0.86999 . 0.247504 0.46442 D 0.000289 T 0.35248 0.0925 L 0.42632 1.34 0.80722 D 1 B 0.33494 0.414 B 0.31245 0.126 T 0.22906 -1.0203 10 0.52906 T 0.07 -6.7061 11.542 0.50672 0.8505:0.1495:0.0:0.0 . 1150 Q9BXP8 PAPP2_HUMAN S 1150 ENSP00000356634:N1150S ENSP00000356634:N1150S N + 2 0 PAPPA2 174942201 1.000000 0.71417 0.998000 0.56505 0.227000 0.25037 3.875000 0.56108 2.149000 0.67028 0.533000 0.62120 AAC PAPPA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000084763.1 + ENST00000367662.3 Missense_Mutation SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO ANKRD28 23243 broad.mit.edu 37 3 15755112 15755113 + Frame_Shift_Ins INS - - T TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr3:15755112_15755113insT ENST00000399451.2 - 10.0 1388_1389 c.1021_1022insA c.(1021-1023)accfs p.T341fs ANKRD28_ENST00000383777.1_Frame_Shift_Ins_p.T374fs|ANKRD28_ENST00000497037.1_5'UTR NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 341.0 nucleus (GO:0005634) breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6.0 GTGCAAAGGGGTATTTCCATTC 0.441 0 SO:0001589 frameshift_variant AY367056 CCDS46769.1, CCDS74908.1 3p25.1 2013-01-10 ENSG00000206560 ENSG00000206560 23243.0 23243.0 """Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing""" 29024.0 protein-coding gene gene with protein product """phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65""" 611122 9205841 Standard NM_015199 NM_015199 Approved KIAA0379, PITK, PP6-ARS-A, PPP1R65 uc003caj.1 O15084 OTTHUMG00000155379 ENST00000399451.2:c.1022dupA 3.__UNKNOWN__:g.15755113_15755113dupT ENSP00000382379:p.Thr341fs B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57 __UNKNOWN__ CCDS46769.1 ANKRD28-003 PUTATIVE basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000339758.1 - ENST00000399451.2 Frame_Shift_Ins INS PCPG-TCGA-WB-A81V-Normal-SM-5EMMO NF1 4763 broad.mit.edu 37 17 29576062 29576077 + Frame_Shift_Del DEL GTTCTTCCATGCCATC GTTCTTCCATGCCATC - TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr17:29576062_29576077delGTTCTTCCATGCCATC ENST00000358273.4 + 30.0 4418_4433 c.4035_4050delGTTCTTCCATGCCATC c.(4033-4050)aagttcttccatgccatcfs p.KFFHAI1345fs NF1_ENST00000356175.3_Frame_Shift_Del_p.KFFHAI1345fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1345.0 Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}. actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060) axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634) phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099) p.0?(8)|p.?(4) 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) 599.0 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) TGACTGAAAAGTTCTTCCATGCCATCATCAGTTCCT 0.384 """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) yes Rec yes Neurofibromatosis type 1 17 17q12 4763.0 neurofibromatosis type 1 gene O 12 Whole gene deletion(8)|Unknown(4) soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1) GRCh37 CI040953 NF1 I SO:0001589 frameshift_variant Familial Cancer Database NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome CCDS11264.1, CCDS42292.1, CCDS45645.1 17q11.2 2014-09-17 2008-07-31 ENSG00000196712 ENSG00000196712 4763.0 4763.0 7765.0 protein-coding gene gene with protein product """neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease""" 613113 1715669 Standard NM_000267 NM_000267 Approved uc002hgg.3 P21359 OTTHUMG00000132871 ENST00000358273.4:c.4035_4050delGTTCTTCCATGCCATC 17.__UNKNOWN__:g.29576062_29576077delGTTCTTCCATGCCATC ENSP00000351015:p.Lys1345fs O00662|Q14284|Q14930|Q14931|Q9UMK3 __UNKNOWN__ CCDS42292.1 NF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256351.2 + ENST00000358273.4 Frame_Shift_Del DEL PCPG-TCGA-WB-A81V-Normal-SM-5EMMO BCORL1 63035 bcgsc.ca 37 X 129149806 129149806 + Missense_Mutation SNP G G C TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chrX:129149806G>C ENST00000218147.7 + 4.0 3255 c.3058G>C c.(3058-3060)Gaa>Caa p.E1020Q BCORL1_ENST00000303743.5_Missense_Mutation_p.E1020Q|BCORL1_ENST00000540052.1_Missense_Mutation_p.E1020Q|BCORL1_ENST00000359304.2_Missense_Mutation_p.E1020Q Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1020.0 chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) 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) 75.0 CCACCCCAAGGAACTTATATT 0.597 0 78.0 74.0 75.0 X 129149806.0 2203.0 4300.0 6503.0 SO:0001583 missense AL136450 CCDS14616.1 Xq25-q26.1 2014-09-17 2010-06-10 ENSG00000085185 ENSG00000085185 63035.0 63035.0 """Ankyrin repeat domain containing""" 25657.0 protein-coding gene gene with protein product 300688 """chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1""" CXorf10 Standard NM_021946 NM_021946 Approved FLJ11362 uc022cdu.1 Q5H9F3 OTTHUMG00000022379 ENST00000218147.7:c.3058G>C X.__UNKNOWN__:g.129149806G>C ENSP00000218147:p.Glu1020Gln B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528 __UNKNOWN__ CCDS14616.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 16.12|16.12 3.032095|3.032095 0.54790|0.54790 .|. .|. ENSG00000085185|ENSG00000085185 ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294 T;T;T;T;T|. 0.52754|. 0.67;1.06;0.65;0.67;1.15|. 5.17|5.17 5.17|5.17 0.71159|0.71159 .|. 0.000000|. 0.37261|. N|. 0.002172|. T|T 0.57330|0.57330 0.2046|0.2046 L|L 0.29908|0.29908 0.895|0.895 0.39481|0.39481 D|D 0.96788|0.96788 D;D|. 0.67145|. 0.996;0.996|. P;P|. 0.61874|. 0.895;0.867|. T|T 0.55995|0.55995 -0.8052|-0.8052 10|5 0.59425|. D|. 0.04|. -7.7497|-7.7497 17.8442|17.8442 0.88724|0.88724 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 1020;1020|. Q5H9F3-2;Q5H9F3|. .;BCORL_HUMAN|. Q|A 1020;1020;1020;1020;620|455 ENSP00000218147:E1020Q;ENSP00000307541:E1020Q;ENSP00000352253:E1020Q;ENSP00000437775:E1020Q;ENSP00000399483:E620Q|. ENSP00000218147:E1020Q|. E|G +|+ 1|2 0|0 BCORL1|BCORL1 128977487|128977487 1.000000|1.000000 0.71417|0.71417 0.998000|0.998000 0.56505|0.56505 0.923000|0.923000 0.55619|0.55619 6.427000|6.427000 0.73378|0.73378 2.147000|2.147000 0.66899|0.66899 0.529000|0.529000 0.55759|0.55759 GAA|GGA BCORL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058223.1 + ENST00000218147.7 Missense_Mutation SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO BCAT1 586 ucsc.edu 37 12 25034242 25034242 + Missense_Mutation SNP G G A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr12:25034242G>A ENST00000261192.7 - 4.0 909 c.383C>T c.(382-384)aCt>aTt p.T128I BCAT1_ENST00000538118.1_Missense_Mutation_p.T127I|BCAT1_ENST00000539780.1_Intron|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Intron|BCAT1_ENST00000539282.1_Missense_Mutation_p.T140I NM_001178091.1|NM_005504.6 NP_001171562.1|NP_005495.2 P54687 BCAT1_HUMAN branched chain amino-acid transaminase 1, cytosolic 128.0 branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|mitochondrion (GO:0005739) branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655) breast(1)|large_intestine(1)|lung(3)|prostate(2) 7.0 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161) TACCGGCAGAGTTGCCCTCAC 0.383 0 105.0 104.0 105.0 12 25034242.0 1952.0 4162.0 6114.0 SO:0001583 missense CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1 12p12.1 2012-10-02 2010-05-07 ENSG00000060982 ENSG00000060982 586.0 586.0 2.6.1.42 976.0 protein-coding gene gene with protein product 113520 """branched chain aminotransferase 1, cytosolic""" BCT1 9165094 Standard NM_005504 NM_005504 Approved uc010six.2 P54687 OTTHUMG00000169053 ENST00000261192.7:c.383C>T 12.__UNKNOWN__:g.25034242G>A ENSP00000261192:p.Thr128Ile B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9 __UNKNOWN__ CCDS44845.1 . . . . . . . . . . G 19.56 3.850455 0.71719 . . ENSG00000060982 ENST00000261192;ENST00000538118;ENST00000539282;ENST00000546285 T;T;T;T 0.17691 2.26;2.26;2.26;2.31 5.84 5.84 0.93424 . 0.118979 0.64402 D 0.000016 T 0.40145 0.1105 M 0.77820 2.39 0.80722 D 1 P;D;P 0.52996 0.946;0.957;0.841 P;P;P 0.59115 0.77;0.852;0.649 T 0.14699 -1.0463 10 0.66056 D 0.02 -21.3698 15.2469 0.73511 0.0:0.14:0.86:0.0 . 140;128;127 F5H5E4;P54687;Q68DQ7 .;BCAT1_HUMAN;. I 128;127;140;104 ENSP00000261192:T128I;ENSP00000440817:T127I;ENSP00000443459:T140I;ENSP00000438593:T104I ENSP00000261192:T128I T - 2 0 BCAT1 24925509 1.000000 0.71417 0.313000 0.25210 0.795000 0.44927 5.407000 0.66363 2.764000 0.94973 0.655000 0.94253 ACT BCAT1-001 KNOWN upstream_uORF|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000402080.1 - ENST00000261192.7 Missense_Mutation SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO EP400 57634 hgsc.bcm.edu 37 12 132538097 132538097 + Silent SNP G G A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr12:132538097G>A ENST00000389561.2 + 43.0 7792 c.7683G>A c.(7681-7683)gcG>gcA p.A2561A EP400_ENST00000389562.2_Silent_p.A2560A|EP400_ENST00000333577.4_Silent_p.A2597A|EP400_ENST00000330386.6_Silent_p.A2480A|EP400_ENST00000332482.4_Silent_p.A2524A NM_015409.4 NP_056224.3 Q96L91 EP400_HUMAN E1A binding protein p400 2597.0 Interaction with ZNF42. {ECO:0000250}.|Poly-Pro. chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967) NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386) 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) 161.0 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) AGGCCCCAGCGAAGGCGCAGC 0.716 G 4.0 0.0018 2184.0 0.9977 , , 0.0004 0.01 0.003 0.7216 EXOME 0.001 SNP 0 G 0,4194 0,0,2097 7.0 10.0 9.0 7683 -9.6 0.0 12 9.0 35,8231 0,35,4098 no coding-synonymous EP400 NM_015409.4 0,35,6195 AA,AG,GG 0.4234,0.0,0.2809 2561/3124 132538097.0 35,12425 2097.0 4133.0 6230.0 SO:0001819 synonymous_variant U80743 CCDS31929.1, CCDS31929.2 12q24.33 2008-02-01 2002-02-05 2002-02-08 ENSG00000183495 57634.0 57634.0 11958.0 protein-coding gene gene with protein product 606265 """trinucleotide repeat containing 12""" TNRC12 9225980, 11509179 Standard NM_015409 NM_015409 Approved CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225 uc001ujn.3 Q96L91 ENST00000389561.2:c.7683G>A 12.__UNKNOWN__:g.132538097G>A O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230 __UNKNOWN__ CCDS31929.2 EP400-204 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding + ENST00000389561.2 Silent SNP PCPG-TCGA-WB-A81V-Normal-SM-5EMMO FGFR4 2264 broad.mit.edu 37 5 176523689 176523689 + Silent SNP G G A TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr5:176523689G>A ENST00000292408.4 + 16.0 2345 c.2100G>A c.(2098-2100)tcG>tcA p.S700S FGFR4_ENST00000292410.3_Silent_p.S660S|FGFR4_ENST00000393648.2_Silent_p.S632S|FGFR4_ENST00000393637.1_Silent_p.S660S|FGFR4_ENST00000502906.1_Silent_p.S700S NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 700.0 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713) 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) 34.0 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)|Ponatinib(DB08901) AGCTGTTCTCGCTGCTGCGGG 0.652 TSP Lung(9;0.080) 0 66.0 65.0 65.0 5 176523689.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF202063 CCDS4410.1, CCDS4411.1 5q35.2 2013-09-19 ENSG00000160867 ENSG00000160867 2264.0 2264.0 """CD molecules"", ""Immunoglobulin superfamily / I-set domain containing""" 3691.0 protein-coding gene gene with protein product 134935 Standard XM_005265837 Approved JTK2, CD334 uc003mfm.3 P22455 OTTHUMG00000151523 ENST00000292408.4:c.2100G>A 5.__UNKNOWN__:g.176523689G>A G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5 __UNKNOWN__ CCDS4410.1 FGFR4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253410.1 + ENST00000292408.4 Silent SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 FAM13C 220965 broad.mit.edu 37 10 61083855 61083855 + Silent SNP A A G TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr10:61083855A>G ENST00000373868.2 - 4.0 423 c.336T>C c.(334-336)caT>caC p.H112H FAM13C_ENST00000422313.2_Silent_p.H112H|FAM13C_ENST00000435852.2_Silent_p.H112H|FAM13C_ENST00000373867.3_Silent_p.H29H|FAM13C_ENST00000468840.2_Silent_p.H29H|FAM13C_ENST00000419214.2_Silent_p.H112H|FAM13C_ENST00000277705.6_Silent_p.H112H|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000442566.3_Silent_p.H112H NM_198215.3 NP_937858.2 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 112.0 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45.0 TGGATACCACATGCTCTGTCT 0.493 0 301.0 267.0 279.0 10 61083855.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant U79304 CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1 10q21 2009-09-15 2009-01-20 2009-01-20 ENSG00000148541 ENSG00000148541 220965.0 220965.0 19371.0 protein-coding gene gene with protein product """family with sequence similarity 13, member C1""" FAM13C1 Standard NM_001001971 Approved uc001jkn.3 Q8NE31 OTTHUMG00000018277 ENST00000373868.2:c.336T>C 10.__UNKNOWN__:g.61083855A>G B7ZB77|Q5T631|Q6P2M3|Q99787 __UNKNOWN__ CCDS7255.1 FAM13C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000048162.2 - ENST00000373868.2 Silent SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 ZHX2 22882 broad.mit.edu 37 8 123965941 123965941 + Missense_Mutation SNP T T G TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr8:123965941T>G ENST00000314393.4 + 3.0 3026 c.2191T>G c.(2191-2193)Tac>Gac p.Y731D NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 731.0 mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45.0 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) TCCACAATATTACAAGGACCC 0.527 Esophageal Squamous(94;1056 1388 11767 13799 49639) 0 96.0 102.0 100.0 8 123965941.0 2203.0 4300.0 6503.0 SO:0001583 missense AB020661 CCDS6336.1 8q24.13 2012-03-09 2004-01-23 ENSG00000178764 ENSG00000178764 22882.0 22882.0 """Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class""" 18513.0 protein-coding gene gene with protein product 609185 """zinc-fingers and homeoboxes 2""" 10048485, 12741956 Standard NM_014943 XM_005250837 Approved KIAA0854 uc003ypk.1 Q9Y6X8 OTTHUMG00000165077 ENST00000314393.4:c.2191T>G 8.__UNKNOWN__:g.123965941T>G ENSP00000314709:p.Tyr731Asp __UNKNOWN__ CCDS6336.1 . . . . . . . . . . T 8.378 0.836957 0.16891 . . ENSG00000178764 ENST00000314393 T 0.23754 1.89 5.94 -8.73 0.00841 . 1.392090 0.04249 N 0.338273 T 0.12475 0.0303 N 0.14661 0.345 0.09310 N 1 B 0.15141 0.012 B 0.14023 0.01 T 0.34775 -0.9815 10 0.87932 D 0 -0.475 5.6419 0.17569 0.0914:0.4567:0.195:0.2568 . 731 Q9Y6X8 ZHX2_HUMAN D 731 ENSP00000314709:Y731D ENSP00000314709:Y731D Y + 1 0 ZHX2 124035122 0.000000 0.05858 0.000000 0.03702 0.049000 0.14656 -0.058000 0.11750 -1.615000 0.01573 -0.379000 0.06801 TAC ZHX2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381709.1 + ENST00000314393.4 Missense_Mutation SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 IQCE 23288 broad.mit.edu 37 7 2644558 2644558 + Missense_Mutation SNP G G A TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr7:2644558G>A ENST00000402050.2 + 19.0 1860 c.1676G>A c.(1675-1677)cGg>cAg p.R559Q IQCE_ENST00000438376.2_Missense_Mutation_p.R543Q|IQCE_ENST00000325979.7_Missense_Mutation_p.R494Q|IQCE_ENST00000404984.1_Missense_Mutation_p.R508Q NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 559.0 IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}. mitochondrion (GO:0005739) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30.0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) CATCTCACGCGGACAAAGCTC 0.622 0 G GLN/ARG,GLN/ARG 0,4254 0,0,2127 54.0 60.0 58.0 1628,1676 4.9 0.1 7 58.0 1,8489 0,1,4244 no missense,missense IQCE NM_001100390.1,NM_152558.3 43,43 0,1,6371 AA,AG,GG 0.0118,0.0,0.0078 possibly-damaging,possibly-damaging 543/680,559/696 2644558.0 1,12743 2127.0 4245.0 6372.0 SO:0001583 missense AL136792 CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1 7p22.3 2006-04-12 ENSG00000106012 ENSG00000106012 23288.0 23288.0 29171.0 protein-coding gene gene with protein product 10470851 Standard NM_152558 XR_242067 Approved KIAA1023 uc003smo.4 Q6IPM2 OTTHUMG00000152047 ENST00000402050.2:c.1676G>A 7.__UNKNOWN__:g.2644558G>A ENSP00000385597:p.Arg559Gln Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7 __UNKNOWN__ CCDS43542.1 . . . . . . . . . . G 16.93 3.258998 0.59321 0.0 1.18E-4 ENSG00000106012 ENST00000402050;ENST00000404984;ENST00000438376;ENST00000325979;ENST00000423196 T;T;T;T;T 0.64803 -0.12;-0.12;-0.12;-0.12;-0.12 4.9 4.9 0.64082 . 0.171081 0.37219 N 0.002195 T 0.73737 0.3625 M 0.71581 2.175 0.22142 N 0.999334 D;D;P;D;P 0.58620 0.983;0.97;0.825;0.97;0.791 P;P;B;P;B 0.58780 0.845;0.638;0.249;0.638;0.161 T 0.68326 -0.5438 10 0.72032 D 0.01 -13.5113 13.6658 0.62393 0.0:0.0:1.0:0.0 . 494;543;559;559;543 B4DXN1;B4DDX4;Q6IPM2;B3KRY4;Q6IPM2-4 .;.;IQCE_HUMAN;.;. Q 559;508;543;494;139 ENSP00000385597:R559Q;ENSP00000385945:R508Q;ENSP00000396178:R543Q;ENSP00000313772:R494Q;ENSP00000405982:R139Q ENSP00000313772:R494Q R + 2 0 IQCE 2611084 0.900000 0.30661 0.072000 0.20136 0.004000 0.04260 5.075000 0.64407 2.286000 0.76751 0.650000 0.86243 CGG IQCE-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000325063.2 + ENST00000402050.2 Missense_Mutation SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 F12 2161 broad.mit.edu 37 5 176833050 176833050 + Missense_Mutation SNP G G T TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr5:176833050G>T ENST00000253496.3 - 3.0 176 c.128C>A c.(127-129)aCc>aAc p.T43N NM_000505.3 NP_000496.2 P00748 FA12_HUMAN coagulation factor XII (Hageman factor) 43.0 Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}. blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 12.0 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Ethanolamine Oleate(DB06689) GGGCTCCCCGGTGACAGTGAG 0.592 Hereditary Angioedema 0 82.0 81.0 82.0 5 176833050.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database HAE, type I-III, Hereditary Angioneurotic Edema, HANE, M31315 CCDS34302.1 5q35.3 2014-09-17 ENSG00000131187 ENSG00000131187 2161.0 2161.0 3.4.21.38 3530.0 protein-coding gene gene with protein product 610619 Standard NM_000505 Approved uc003mgo.4 P00748 OTTHUMG00000163403 ENST00000253496.3:c.128C>A 5.__UNKNOWN__:g.176833050G>T ENSP00000253496:p.Thr43Asn P78339 __UNKNOWN__ CCDS34302.1 . . . . . . . . . . G 10.55 1.380260 0.24944 . . ENSG00000131187 ENST00000253496 D 0.85258 -1.96 5.31 2.36 0.29203 Fibronectin, type II, collagen-binding (3);Kringle-like fold (1); 0.443158 0.19188 N 0.120496 T 0.66177 0.2763 N 0.05259 -0.085 0.09310 N 0.999994 B 0.02656 0.0 B 0.04013 0.001 T 0.54193 -0.8330 10 0.32370 T 0.25 . 6.8659 0.24093 0.0:0.2022:0.3644:0.4334 . 43 P00748 FA12_HUMAN N 43 ENSP00000253496:T43N ENSP00000253496:T43N T - 2 0 F12 176765656 0.000000 0.05858 0.671000 0.29857 0.981000 0.71138 0.362000 0.20284 0.584000 0.29591 -0.230000 0.12252 ACC F12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000373217.1 - ENST00000253496.3 Missense_Mutation SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 COG7 91949 broad.mit.edu 37 16 23400369 23400369 + Missense_Mutation SNP G G A TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr16:23400369G>A ENST00000307149.5 - 17.0 2370 c.2185C>T c.(2185-2187)Ccg>Tcg p.P729S NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 729.0 intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020) breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27.0 GBM - Glioblastoma multiforme(48;0.0401) GTGCGGGACGGCTGCAGGCCC 0.622 0 70.0 57.0 61.0 16 23400369.0 2197.0 4300.0 6497.0 SO:0001583 missense AF070568 CCDS10610.1 16p12.2 2008-02-05 ENSG00000168434 ENSG00000168434 91949.0 91949.0 """Components of oligomeric golgi complex""" 18622.0 protein-coding gene gene with protein product 606978 11980916 Standard NM_153603 Approved uc002dlo.3 P83436 OTTHUMG00000094807 ENST00000307149.5:c.2185C>T 16.__UNKNOWN__:g.23400369G>A ENSP00000305442:p.Pro729Ser Q6UWU7 __UNKNOWN__ CCDS10610.1 . . . . . . . . . . G 16.05 3.013735 0.54468 . . ENSG00000168434 ENST00000307149 T 0.42131 0.98 4.93 4.93 0.64822 . 0.050474 0.85682 D 0.000000 T 0.58293 0.2112 L 0.59436 1.845 0.58432 D 0.999999 D 0.61697 0.99 P 0.61533 0.89 T 0.57027 -0.7881 10 0.41790 T 0.15 -31.8218 17.4999 0.87728 0.0:0.0:1.0:0.0 . 729 P83436 COG7_HUMAN S 729 ENSP00000305442:P729S ENSP00000305442:P729S P - 1 0 COG7 23307870 1.000000 0.71417 0.999000 0.59377 0.868000 0.49771 5.164000 0.64954 2.450000 0.82876 0.561000 0.74099 CCG COG7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000211625.1 - ENST00000307149.5 Missense_Mutation SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 ZNF512B 24148 broad.mit.edu 37 20 62626273 62626273 + Missense_Mutation SNP A A G TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr20:62626273A>G ENST00000450537.1 - 2.0 56 ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.K148R Q96KM6 Z512B_HUMAN zinc finger protein 512B regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33.0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TTCCAGAGGAAGTTGGCAGAA 0.517 0 71.0 75.0 74.0 20 62626273.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AB033022 CCDS13548.1 20q13.33 2011-02-09 ENSG00000196700 ENSG00000196700 57473.0 57473.0 29212.0 protein-coding gene gene with protein product 10574462 Standard NM_020713 NM_020713 Approved GM632, MGC149845, MGC149846 uc002yhl.2 Q96KM6 OTTHUMG00000033008 ENST00000450537.1:c.5-26965T>C 20.__UNKNOWN__:g.62626273A>G Q08AK9|Q9ULM4 __UNKNOWN__ CCDS13548.1 . . . . . . . . . . A 22.1 4.238230 0.79800 . . ENSG00000101161 ENST00000266079;ENST00000535781 T;T 0.77877 -1.13;-1.13 5.71 5.71 0.89125 PRP1 splicing factor, N-terminal (1); 0.000000 0.85682 D 0.000000 T 0.72859 0.3513 L 0.54323 1.7 0.80722 D 1 B;P 0.37141 0.14;0.584 B;B 0.33960 0.077;0.173 T 0.72144 -0.4379 10 0.31617 T 0.26 . 15.988 0.80176 1.0:0.0:0.0:0.0 . 148;148 O94906-2;O94906 .;PRP6_HUMAN R 148 ENSP00000266079:K148R;ENSP00000446216:K148R ENSP00000266079:K148R K + 2 0 PRPF6 62096717 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 9.254000 0.95512 2.188000 0.69820 0.533000 0.62120 AAG ZNF512B-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080246.1 - ENST00000450537.1 Intron SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 KCNH5 27133 broad.mit.edu 37 14 63246574 63246575 + Missense_Mutation DNP GG GG AA TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr14:63246574_63246575GG>AA ENST00000322893.7 - 10.0 2158_2159 c.1890_1891CC>TT c.(1888-1893)gtCCgg>gtTTgg p.R631W KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.R573W NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 631.0 potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268) cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886) phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99.0 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GTCAGTGCCCGGACGTTCGCAC 0.45 0 SO:0001583 missense U69185 CCDS9756.1, CCDS45122.1 14q23.1 2012-07-05 ENSG00000140015 ENSG00000140015 27133.0 27133.0 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels""" 6254.0 protein-coding gene gene with protein product 605716 9738473, 16382104 Standard NM_139318 NM_139318 Approved Kv10.2, H-EAG2, eag2 uc001xfx.3 Q8NCM2 OTTHUMG00000029041 ENST00000322893.7:c.1890_1891delinsAA 14.__UNKNOWN__:g.63246574_63246575delinsAA ENSP00000321427:p.Arg631Trp C9JP98 __UNKNOWN__ CCDS9756.1 KCNH5-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000411747.1 - ENST00000322893.7 Missense_Mutation DNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 CCSER1 401145 broad.mit.edu 37 4 91229914 91229914 + Missense_Mutation SNP A A G TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr4:91229914A>G ENST00000509176.1 + 2.0 767 c.479A>G c.(478-480)gAt>gGt p.D160G CCSER1_ENST00000333691.8_Missense_Mutation_p.D160G|CCSER1_ENST00000432775.2_Missense_Mutation_p.D160G NM_001145065.1 NP_001138537.1 Q9C0I3 CCSE1_HUMAN coiled-coil serine-rich protein 1 160.0 AGTGAAGGGGATGATTCTGGT 0.358 0 54.0 53.0 53.0 4 91229914.0 1834.0 4092.0 5926.0 SO:0001583 missense CCDS47099.1, CCDS47100.1 4q22.1 2012-12-03 2012-12-03 2012-12-03 ENSG00000184305 ENSG00000184305 401145.0 401145.0 29349.0 protein-coding gene gene with protein product """family with sequence similarity 190, member A""" FAM190A 11214970 Standard NM_001145065 NM_001145065 Approved KIAA1680 uc003hsv.4 Q9C0I3 OTTHUMG00000160950 ENST00000509176.1:c.479A>G 4.__UNKNOWN__:g.91229914A>G ENSP00000425040:p.Asp160Gly Q4W5M0|Q86V57 __UNKNOWN__ CCDS47099.1 . . . . . . . . . . A 18.61 3.661730 0.67700 . . ENSG00000184305 ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365 T;T;T 0.59638 0.74;0.25;0.74 5.18 5.18 0.71444 . 0.061459 0.64402 D 0.000005 T 0.70491 0.3230 L 0.48642 1.525 0.44754 D 0.997753 D;D;D 0.89917 0.998;1.0;1.0 P;D;D 0.91635 0.878;0.998;0.999 T 0.73591 -0.3934 10 0.87932 D 0 -28.0797 15.7521 0.77994 1.0:0.0:0.0:0.0 . 160;160;160 Q9C0I3-2;Q9C0I3;E7EUW0 .;F190A_HUMAN;. G 160 ENSP00000425040:D160G;ENSP00000389283:D160G;ENSP00000329482:D160G ENSP00000329482:D160G D + 2 0 FAM190A 91448937 1.000000 0.71417 1.000000 0.80357 0.835000 0.47333 8.502000 0.90505 2.254000 0.74563 0.533000 0.62120 GAT CCSER1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000363109.3 + ENST00000509176.1 Missense_Mutation SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr10:51093329C>T ENST00000402038.3 - 4.0 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584.0 A-domain. carbohydrate metabolic process (GO:0005975) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634) poly(ADP-ribose) glycohydrolase activity (GO:0004649) p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10.0 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318 1 Substitution - Missense(1) kidney(1) 235.0 183.0 198.0 10 51093329.0 692.0 1589.0 2281.0 SO:0001583 missense AF005043 CCDS73130.1 10q11.23 2012-04-20 ENSG00000227345 ENSG00000227345 8505.0 8505.0 3.2.1.143 8605.0 protein-coding gene gene with protein product 603501 9115250, 10449915 Standard NM_003631 NM_003631 Approved uc001jif.3 Q86W56 OTTHUMG00000018201 ENST00000402038.3:c.295G>A 10.__UNKNOWN__:g.51093329C>T ENSP00000384408:p.Ala99Thr A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7 __UNKNOWN__ . . . . . . . . . . C 12.89 2.073258 0.36566 . . ENSG00000227345 ENST00000402038 . . . 3.88 2.96 0.34315 . . . . . T 0.46678 0.1405 M 0.61703 1.905 . . . B;B;P;P;P;B 0.41947 0.002;0.003;0.574;0.766;0.766;0.006 B;B;B;B;B;B 0.38616 0.006;0.006;0.191;0.179;0.277;0.01 T 0.56631 -0.7947 7 0.18710 T 0.47 -4.0352 11.9338 0.52862 0.0:0.9123:0.0:0.0877 . 502;584;135;99;124;584 Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4 .;PARG_HUMAN;.;.;.;. T 99 . ENSP00000384408:A99T A - 1 0 PARG 50763335 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 1.907000 0.39897 0.952000 0.37798 0.407000 0.27541 GCA PARG-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal protein_coding protein_coding OTTHUMT00000048011.2 - ENST00000402038.3 Missense_Mutation SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 LRRTM3 347731 broad.mit.edu 37 10 68687983 68687983 + Missense_Mutation SNP G G C TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr10:68687983G>C ENST00000361320.4 + 2.0 1887 c.1309G>C c.(1309-1311)Gtt>Ctt p.V437L CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 437.0 positive regulation of beta-amyloid formation (GO:1902004) cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211) breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41.0 CATCCTGCTGGTTATCTACGT 0.567 0 89.0 87.0 87.0 10 68687983.0 2203.0 4300.0 6503.0 SO:0001583 missense BX640611 CCDS7270.1 10q22.1 2007-01-22 ENSG00000198739 347731.0 347731.0 19410.0 protein-coding gene gene with protein product 610869 12676565 Standard NM_178011 XR_247527 Approved uc001jmz.1 Q86VH5 ENST00000361320.4:c.1309G>C 10.__UNKNOWN__:g.68687983G>C ENSP00000355187:p.Val437Leu A8K2A3|Q2NKX7|Q6N0A3 __UNKNOWN__ CCDS7270.1 . . . . . . . . . . G 22.1 4.240363 0.79912 . . ENSG00000198739 ENST00000361320;ENST00000373722 T 0.75938 -0.98 6.06 6.06 0.98353 . 0.000000 0.64402 D 0.000009 D 0.86690 0.5993 M 0.79475 2.455 0.80722 D 1 D;D 0.60575 0.98;0.988 P;D 0.67231 0.893;0.95 D 0.86870 0.2035 10 0.72032 D 0.01 . 19.3958 0.94607 0.0:0.0:1.0:0.0 . 437;437 Q86VH5;Q86VH5-2 LRRT3_HUMAN;. L 437 ENSP00000355187:V437L ENSP00000355187:V437L V + 1 0 LRRTM3 68357989 1.000000 0.71417 0.933000 0.37362 0.980000 0.70556 9.869000 0.99810 2.879000 0.98667 0.650000 0.86243 GTT LRRTM3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048277.2 + ENST00000361320.4 Missense_Mutation SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 YBX2 51087 broad.mit.edu 37 17 7193313 7193313 + Silent SNP C C T TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr17:7193313C>T ENST00000007699.5 - 6.0 885 c.822G>A c.(820-822)ccG>ccA p.P274P NM_015982.3 NP_057066.2 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 274.0 Pro-rich.|Required for mRNA-binding. mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386) cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12.0 GGAATCTGGGCGGGGGGACTC 0.627 0 44.0 48.0 47.0 17 7193313.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF096834 CCDS11098.1 17p13.1 2013-12-20 ENSG00000006047 ENSG00000006047 51087.0 51087.0 17948.0 protein-coding gene gene with protein product 611447 10100484, 9780336 Standard NM_015982 NM_015982 Approved MSY2, CSDA3 uc002gfq.2 Q9Y2T7 OTTHUMG00000177992 ENST00000007699.5:c.822G>A 17.__UNKNOWN__:g.7193313C>T D3DTP1|Q8N4P0 __UNKNOWN__ CCDS11098.1 YBX2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000440172.2 - ENST00000007699.5 Silent SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 CACNB2 783 broad.mit.edu 37 10 18828544 18828544 + Missense_Mutation SNP G G A TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr10:18828544G>A ENST00000324631.7 + 14.0 1934 c.1874G>A c.(1873-1875)cGc>cAc p.R625H CACNB2_ENST00000377331.2_Missense_Mutation_p.R573H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R577H|CACNB2_ENST00000377328.1_Missense_Mutation_p.R375H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R532H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000282343.8_Missense_Mutation_p.R597H|CACNB2_ENST00000396576.2_Missense_Mutation_p.R570H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R601H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R571H NM_201593.2|NM_201596.2 NP_963887.2|NP_963890.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 625.0 axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601) integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891) calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31.0 Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661) AACAAGCAGCGCAGCCGTCAT 0.547 0 72.0 64.0 66.0 10 18828544.0 2203.0 4300.0 6503.0 SO:0001583 missense U95019 CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1 10p12 2014-09-17 ENSG00000165995 ENSG00000165995 783.0 783.0 """Calcium channel subunits""" 1402.0 protein-coding gene gene with protein product 600003 MYSB, CACNLB2 9254841, 8494331 Standard NM_000724 NM_201596 Approved uc001ipr.2 Q08289 OTTHUMG00000017764 ENST00000324631.7:c.1874G>A 10.__UNKNOWN__:g.18828544G>A ENSP00000320025:p.Arg625His A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341 __UNKNOWN__ CCDS7125.1 . . . . . . . . . . G 16.51 3.143788 0.57044 . . ENSG00000165995 ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315 D;T;D;D;T;D;D;D;D 0.86097 -1.88;1.95;-2.07;-1.87;1.95;-1.9;-1.94;-1.9;-1.91 5.7 5.7 0.88788 . 0.496751 0.20802 N 0.085403 D 0.90369 0.6986 L 0.43152 1.355 0.80722 D 1 D;D;D;D;D;D;D;D;D;D;D;D;D 0.89917 0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.992;1.0;1.0 D;D;D;D;D;D;D;D;D;D;P;D;D 0.91635 0.976;0.996;0.999;0.992;0.998;0.997;0.996;0.996;0.996;0.998;0.674;0.998;0.996 D 0.90121 0.4199 10 0.56958 D 0.05 -10.0878 19.8389 0.96675 0.0:0.0:1.0:0.0 . 539;597;375;577;547;571;581;532;573;597;587;601;625 B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289 .;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN H 625;601;375;597;573;570;532;571;577 ENSP00000320025:R625H;ENSP00000344474:R601H;ENSP00000366545:R375H;ENSP00000282343:R597H;ENSP00000366548:R573H;ENSP00000379821:R570H;ENSP00000366536:R532H;ENSP00000366546:R571H;ENSP00000366532:R577H ENSP00000282343:R597H R + 2 0 CACNB2 18868550 1.000000 0.71417 0.257000 0.24404 0.346000 0.29079 7.556000 0.82233 2.703000 0.92315 0.655000 0.94253 CGC CACNB2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000047072.2 + ENST00000324631.7 Missense_Mutation SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 PRDM16 63976 broad.mit.edu 37 1 3327970 3327970 + Silent SNP C C T TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr1:3327970C>T ENST00000270722.5 + 9.0 1258 c.1209C>T c.(1207-1209)taC>taT p.Y403Y PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Silent_p.Y404Y|PRDM16_ENST00000441472.2_Silent_p.Y403Y|PRDM16_ENST00000378398.3_Silent_p.Y404Y|PRDM16_ENST00000442529.2_Silent_p.Y403Y|PRDM16_ENST00000378391.2_Silent_p.Y403Y|PRDM16_ENST00000511072.1_Silent_p.Y404Y Q9HAZ2 PRD16_HUMAN PR domain containing 16 403.0 brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713) breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59.0 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) ACAAGTCCTACACGCAGTTCT 0.542 T EVI1 """MDS, AML""" Dom yes 1 1p36.23-p33 63976.0 PR domain containing 16 L 0 62.0 64.0 64.0 1 3327970.0 2168.0 4288.0 6456.0 SO:0001819 synonymous_variant AF294278 CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2 1p36.23-p33 2013-01-08 ENSG00000142611 ENSG00000142611 63976.0 63976.0 """Zinc fingers, C2H2-type""" 14000.0 protein-coding gene gene with protein product """MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1""" 605557 11050005 Standard NM_022114 NM_199454 Approved MEL1, PFM13, KIAA1675, MGC166915 uc001akf.3 Q9HAZ2 OTTHUMG00000000581 ENST00000270722.5:c.1209C>T 1.__UNKNOWN__:g.3327970C>T A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8 __UNKNOWN__ CCDS41236.2 PRDM16-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000001382.3 + ENST00000270722.5 Silent SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 FANK1 92565 broad.mit.edu 37 10 127693555 127693555 + Silent SNP G G A rs137911829 TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr10:127693555G>A ENST00000368695.1 + 7.0 746 c.624G>A c.(622-624)ctG>ctA p.L208L FANK1_ENST00000368693.1_Silent_p.L214L|FANK1_ENST00000477963.1_3'UTR NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 214.0 cytoplasm (GO:0005737)|nucleus (GO:0005634) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21.0 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) GTACAGCTCTGCACTGGGCTG 0.532 0 G 1,4405 2.1+/-5.4 0,1,2202 168.0 155.0 159.0 642 4.9 1.0 10 dbSNP_134 159.0 0,8600 0,0,4300 no coding-synonymous FANK1 NM_145235.3 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 214/346 127693555.0 1,13005 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC024189 CCDS31309.1 10q26.2 2013-02-11 2005-03-01 ENSG00000203780 ENSG00000203780 92565.0 92565.0 """Ankyrin repeat domain containing"", ""Fibronectin type III domain containing""" 23527.0 protein-coding gene gene with protein product 611640 """fibronectin type 3 and ankyrin repeat domains 1""" 12477932 Standard NM_145235 NM_145235 Approved uc001ljh.4 Q8TC84 OTTHUMG00000019241 ENST00000368695.1:c.624G>A 10.__UNKNOWN__:g.127693555G>A Q6UXY9|Q6X7T6 __UNKNOWN__ . . . . . . . . . . G 9.448 1.089780 0.20390 2.27E-4 0.0 ENSG00000203780 ENST00000456942 . . . 5.79 4.89 0.63831 . . . . . T 0.69771 0.3148 . . . 0.80722 D 1 . . . . . . T 0.68887 -0.5290 4 . . . -13.8701 13.7511 0.62908 0.0747:0.0:0.9253:0.0 . . . . Y 109 . . C + 2 0 FANK1 127683545 1.000000 0.71417 0.999000 0.59377 0.845000 0.48019 4.751000 0.62169 1.457000 0.47850 0.655000 0.94253 TGC FANK1-001 KNOWN basic protein_coding protein_coding OTTHUMT00000050950.1 + ENST00000368695.1 Silent SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 ZNF491 126069 broad.mit.edu 37 19 11917376 11917376 + Missense_Mutation SNP G G A TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr19:11917376G>A ENST00000323169.5 + 3.0 939 c.608G>A c.(607-609)cGc>cAc p.R203H ZNF491_ENST00000492230.1_Intron NM_152356.3 NP_689569.2 Q8N8L2 ZN491_HUMAN zinc finger protein 491 203.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1) 26.0 AGTTCCTTTCGCAGACATGAA 0.438 0 55.0 55.0 55.0 19 11917376.0 2203.0 4300.0 6503.0 SO:0001583 missense AK092110 CCDS12267.1 19p13.2 2013-01-08 ENSG00000177599 ENSG00000177599 126069.0 126069.0 """Zinc fingers, C2H2-type""" 23706.0 protein-coding gene gene with protein product Standard NM_152356 XM_005259730 Approved FLJ34791 uc002mso.1 Q8N8L2 OTTHUMG00000156529 ENST00000323169.5:c.608G>A 19.__UNKNOWN__:g.11917376G>A ENSP00000313443:p.Arg203His Q3MJ35|Q8NAT8 __UNKNOWN__ CCDS12267.1 . . . . . . . . . . g 1.956 -0.440106 0.04636 . . ENSG00000177599 ENST00000323169;ENST00000455048 T 0.00792 5.69 0.892 -0.203 0.13204 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.00754 0.0025 L 0.43646 1.37 0.09310 N 1 D 0.69078 0.997 B 0.40982 0.345 T 0.50915 -0.8771 9 0.52906 T 0.07 . 1.8977 0.03261 0.417:0.0:0.3131:0.2699 . 203 Q8N8L2 ZN491_HUMAN H 203 ENSP00000313443:R203H ENSP00000313443:R203H R + 2 0 ZNF491 11778376 0.000000 0.05858 0.000000 0.03702 0.082000 0.17680 -1.506000 0.02271 -0.041000 0.13558 0.407000 0.27541 CGC ZNF491-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000344518.1 + ENST00000323169.5 Missense_Mutation SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 CSTF1 1477 broad.mit.edu 37 20 54970613 54970613 + Missense_Mutation SNP A A T TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr20:54970613A>T ENST00000217109.4 + 2.0 357 c.5A>T c.(4-6)tAc>tTc p.Y2F CSTF1_ENST00000493039.1_3'UTR NM_001033521.1|NM_001324.2 NP_001028693.1|NP_001315.1 Q05048 CSTF1_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa 2.0 gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) nucleoplasm (GO:0005654)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 15.0 Colorectal(105;0.202) TCCAAGATGTACAGAACCAAA 0.493 0 56.0 47.0 50.0 20 54970613.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS13452.1 20q13.31 2013-01-10 2002-08-29 ENSG00000101138 ENSG00000101138 1477.0 1477.0 """WD repeat domain containing""" 2483.0 protein-coding gene gene with protein product 600369 """cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD""" 1358884, 11257228 Standard NM_001033521 NM_001033521 Approved uc002xxl.1 Q05048 OTTHUMG00000032791 ENST00000217109.4:c.5A>T 20.__UNKNOWN__:g.54970613A>T ENSP00000217109:p.Tyr2Phe Q5QPD8 __UNKNOWN__ CCDS13452.1 . . . . . . . . . . A 11.90 1.777995 0.31502 . . ENSG00000101138 ENST00000415828;ENST00000217109;ENST00000428552;ENST00000425890;ENST00000452950 T;T;T 0.57752 0.38;0.42;0.38 5.27 5.27 0.74061 . 0.169544 0.53938 D 0.000046 T 0.27489 0.0675 N 0.02011 -0.69 0.43803 D 0.996352 B 0.02656 0.0 B 0.04013 0.001 T 0.12091 -1.0561 10 0.22109 T 0.4 -0.7535 15.4889 0.75590 1.0:0.0:0.0:0.0 . 2 Q05048 CSTF1_HUMAN F 2 ENSP00000387968:Y2F;ENSP00000217109:Y2F;ENSP00000409035:Y2F ENSP00000217109:Y2F Y + 2 0 CSTF1 54404020 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 3.853000 0.55941 2.116000 0.64780 0.482000 0.46254 TAC CSTF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079794.2 + ENST00000217109.4 Missense_Mutation SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 USP15 9958 broad.mit.edu 37 12 62749120 62749120 + Missense_Mutation SNP A A G TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr12:62749120A>G ENST00000280377.5 + 8.0 837 c.779A>G c.(778-780)aAc>aGc p.N260S USP15_ENST00000393654.3_Missense_Mutation_p.N235S|USP15_ENST00000353364.3_Missense_Mutation_p.N231S|USP15_ENST00000550632.1_3'UTR NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 260.0 BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37.0 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) AGTGTGAAAAACTCAAATTAC 0.333 Melanoma(181;615 2041 39364 49691 50001) 0 63.0 63.0 63.0 12 62749120.0 2203.0 4298.0 6501.0 SO:0001583 missense AB011101 CCDS8963.1, CCDS58250.1, CCDS58251.1 12q14 2006-07-18 2005-08-08 9958.0 9958.0 """Ubiquitin-specific peptidases""" 12613.0 protein-coding gene gene with protein product 604731 """ubiquitin specific protease 15""" 12838346 Standard NM_006313 NM_001252078 Approved KIAA0529, UNPH4 uc001src.2 Q9Y4E8 OTTHUMG00000170186 ENST00000280377.5:c.779A>G 12.__UNKNOWN__:g.62749120A>G ENSP00000280377:p.Asn260Ser Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5 __UNKNOWN__ CCDS58251.1 . . . . . . . . . . A 10.28 1.306388 0.23736 . . ENSG00000135655 ENST00000353364;ENST00000280377;ENST00000393654 T;T;T 0.19250 2.16;2.23;2.17 5.45 5.45 0.79879 . 0.106321 0.64402 D 0.000007 T 0.24509 0.0594 M 0.61703 1.905 0.58432 D 0.999996 B;B 0.02656 0.0;0.0 B;B 0.06405 0.001;0.002 T 0.03184 -1.1063 9 . . . -12.7105 15.5204 0.75862 1.0:0.0:0.0:0.0 . 260;231 Q9Y4E8;Q9Y4E8-2 UBP15_HUMAN;. S 231;260;235 ENSP00000258123:N231S;ENSP00000280377:N260S;ENSP00000377264:N235S . N + 2 0 USP15 61035387 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 8.434000 0.90294 2.077000 0.62373 0.455000 0.32223 AAC USP15-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000407831.2 + ENST00000280377.5 Missense_Mutation SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 AKAP9 10142 broad.mit.edu 37 7 91711856 91711856 + Silent SNP T T C TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr7:91711856T>C ENST00000356239.3 + 32.0 8273 c.8040T>C c.(8038-8040)caT>caC p.H2680H AKAP9_ENST00000359028.2_Silent_p.H2692H|AKAP9_ENST00000358100.2_Silent_p.H2692H NM_005751.4|NM_147185.2 NP_005742.4|NP_671714.1 Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2692.0 Glu-rich. G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076) ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102) 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) 155.0 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) AGCTATTTCATAGCAATGAAG 0.338 T BRAF papillary thyroid Dom yes 7 7q21-q22 10142.0 A kinase (PRKA) anchor protein (yotiao) 9 E 0 68.0 71.0 70.0 7 91711856.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF091711 CCDS5622.1 7q21-q22 2014-09-17 2013-09-25 ENSG00000127914 ENSG00000127914 10142.0 10142.0 """A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 379.0 protein-coding gene gene with protein product """A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao""" 604001 9482789, 10390370, 24475373 Standard NM_005751 NM_147185 Approved KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11 uc003ulg.3 Q99996 OTTHUMG00000131127 ENST00000356239.3:c.8040T>C 7.__UNKNOWN__:g.91711856T>C A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2 __UNKNOWN__ CCDS5622.1 AKAP9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253808.2 + ENST00000356239.3 Silent SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 ZNF823 55552 broad.mit.edu 37 19 11833345 11833345 + Missense_Mutation SNP T T C TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr19:11833345T>C ENST00000341191.6 - 4.0 1157 c.1004A>G c.(1003-1005)aAg>aGg p.K335R ZNF823_ENST00000545749.1_Missense_Mutation_p.K153R NM_001080493.2 NP_001073962.1 P16415 ZN823_HUMAN zinc finger protein 823 335.0 regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26.0 CCCACATATCTTACATTTATG 0.418 HNSCC(68;0.2) 0 143.0 137.0 139.0 19 11833345.0 2203.0 4300.0 6503.0 SO:0001583 missense X51760 CCDS45981.1 19p13.2 2013-01-08 ENSG00000197933 ENSG00000197933 55552.0 55552.0 """Zinc fingers, C2H2-type"", ""-""" 30936.0 protein-coding gene gene with protein product """ZFP 36 for a zinc finger protein""" Standard NM_001080493 XM_006722789 Approved HSZFP36 uc002msm.2 P16415 OTTHUMG00000156528 ENST00000341191.6:c.1004A>G 19.__UNKNOWN__:g.11833345T>C ENSP00000340683:p.Lys335Arg A0PJL4|B7Z8D4|Q6P4A9 __UNKNOWN__ CCDS45981.1 . . . . . . . . . . t 15.98 2.994023 0.54041 . . ENSG00000197933 ENST00000545749;ENST00000341191;ENST00000431998 T;T;T 0.07688 3.17;3.17;3.17 0.632 -0.803 0.10886 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.09291 0.0229 N 0.12746 0.255 0.09310 N 1 D 0.89917 1.0 D 0.87578 0.998 T 0.24297 -1.0164 9 0.62326 D 0.03 . 0.0787 0.00029 0.2359:0.2132:0.2363:0.3146 . 335 P16415 ZN823_HUMAN R 153;335;291 ENSP00000440162:K153R;ENSP00000340683:K335R;ENSP00000410654:K291R ENSP00000340683:K335R K - 2 0 ZNF823 11694345 0.000000 0.05858 0.002000 0.10522 0.902000 0.53008 -2.944000 0.00681 -0.373000 0.07979 0.248000 0.18094 AAG ZNF823-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000344516.2 - ENST00000341191.6 Missense_Mutation SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 SATB1 6304 broad.mit.edu 37 3 18391140 18391160 + In_Frame_Del DEL TGCTGCTGCTGCTGTTGCTGT TGCTGCTGCTGCTGTTGCTGT - TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr3:18391140_18391160delTGCTGCTGCTGCTGTTGCTGT ENST00000417717.2 - 12.0 2860_2880 c.1890_1910delACAGCAACAGCAGCAGCAGCA c.(1888-1911)caacagcaacagcagcagcagcag>cag p.630_637QQQQQQQQ>Q SATB1_ENST00000454909.2_In_Frame_Del_p.598_605QQQQQQQQ>Q|SATB1_ENST00000338745.6_In_Frame_Del_p.598_605QQQQQQQQ>Q|TBC1D5_ENST00000414318.2_Intron NM_001195470.1 NP_001182399.1 Q01826 SATB1_HUMAN SATB homeobox 1 0.0 activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605) chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32.0 TGCctgctgctgctgctgctgctgttgctgttgctgctgct 0.597 0 SO:0001651 inframe_deletion CCDS2631.1, CCDS56242.1 3p24.3 2011-07-19 2007-02-15 ENSG00000182568 ENSG00000182568 6304.0 6304.0 """Homeoboxes / CUT class""" 10541.0 protein-coding gene gene with protein product 602075 """special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)""" 1505028 Standard NM_001131010 NM_002971 Approved uc003cbj.3 Q01826 OTTHUMG00000129890 ENST00000417717.2:c.1890_1910delACAGCAACAGCAGCAGCAGCA 3.__UNKNOWN__:g.18391140_18391160delTGCTGCTGCTGCTGTTGCTGT ENSP00000399518:p.Gln630_Gln636del B3KXF1|C9JTR6|Q59EQ0 __UNKNOWN__ CCDS56242.1 SATB1-004 KNOWN basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000339360.2 - ENST00000417717.2 In_Frame_Del DEL PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 DNAH17 8632 bcgsc.ca 37 17 76476806 76476806 + Missense_Mutation SNP T T C TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 T - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr17:76476806T>C ENST00000585328.1 - 49.0 7821 c.7697A>G c.(7696-7698)aAc>aGc p.N2566S DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000389840.5_Missense_Mutation_p.N2557S NM_173628.3 NP_775899.3 Q9UFH2 DYH17_HUMAN dynein, axonemal, heavy chain 17 2557.0 AAA 3. {ECO:0000250}. cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) 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) 116.0 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGAAGTGGGGTTCATGCAGGC 0.517 0 112.0 117.0 115.0 17 76476806.0 1982.0 4156.0 6138.0 SO:0001583 missense AJ000522 17q25.3 2012-04-19 2006-09-04 ENSG00000187775 ENSG00000187775 8632.0 8632.0 """Axonemal dyneins""" 2946.0 protein-coding gene gene with protein product 610063 """dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1""" DNAHL1 9545504 Standard NM_173628 NM_173628 Approved DNEL2, FLJ40457 uc010dhp.2 Q9UFH2 ENST00000585328.1:c.7697A>G 17.__UNKNOWN__:g.76476806T>C ENSP00000465516:p.Asn2566Ser O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7 __UNKNOWN__ . . . . . . . . . . t 23.3 4.398138 0.83120 . . ENSG00000187775 ENST00000300671;ENST00000389840 T 0.59906 0.23 4.88 4.88 0.63580 . . . . . T 0.76579 0.4007 M 0.88310 2.945 0.43485 D 0.995711 . . . . . . T 0.81771 -0.0780 7 0.72032 D 0.01 . 13.5366 0.61650 0.0:0.0:0.0:1.0 . . . . S 2566;2557 ENSP00000374490:N2557S ENSP00000300671:N2566S N - 2 0 DNAH17 73988401 1.000000 0.71417 0.997000 0.53966 0.974000 0.67602 7.815000 0.86186 1.836000 0.53414 0.520000 0.50463 AAC DNAH17-001 PUTATIVE not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000318962.2 - ENST00000585328.1 Missense_Mutation SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 Unknown 0 bcgsc.ca 37 1 106435972 106435972 + RNA SNP G G A TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr1:106435972G>A RP11-251P6.1 (274392 upstream) : RP11-24P14.1 (34273 downstream) GAAAAGTCAGGCTTTTATTGA 0.403 0 SO:0001628 intergenic_variant 1.__UNKNOWN__:g.106435972G>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 TPTE 7179 bcgsc.ca 37 21 10998293 10998293 + RNA SNP G G T TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr21:10998293G>T ENST00000415664.2 - 0.0 1259 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) 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) 130.0 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTCCCGCTCAGGACTAGATTC 0.383 0 SO:0001623 5_prime_UTR_variant AF007118 CCDS74771.1, CCDS74772.1, CCDS74773.1 21p11 2011-06-09 ENSG00000166157 ENSG00000274391 7179.0 7179.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs""" 12023.0 protein-coding gene gene with protein product """PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44""" 604336 10830953, 14659893 Standard NM_001290224 Approved PTEN2, CT44 uc002yip.1 P56180 OTTHUMG00000074127 ENST00000415664.2:c.-2077C>A 21.__UNKNOWN__:g.10998293G>T B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8 __UNKNOWN__ TPTE-006 KNOWN basic processed_transcript protein_coding OTTHUMT00000340030.1 - ENST00000415664.2 5'UTR SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 TPTE 7179 bcgsc.ca 37 21 10998294 10998294 + RNA SNP G G T TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr21:10998294G>T ENST00000415664.2 - 0.0 1258 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) 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) 130.0 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCCCGCTCAGGACTAGATTCT 0.378 0 SO:0001623 5_prime_UTR_variant AF007118 CCDS74771.1, CCDS74772.1, CCDS74773.1 21p11 2011-06-09 ENSG00000166157 ENSG00000274391 7179.0 7179.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs""" 12023.0 protein-coding gene gene with protein product """PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44""" 604336 10830953, 14659893 Standard NM_001290224 Approved PTEN2, CT44 uc002yip.1 P56180 OTTHUMG00000074127 ENST00000415664.2:c.-2078C>A 21.__UNKNOWN__:g.10998294G>T B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8 __UNKNOWN__ TPTE-006 KNOWN basic processed_transcript protein_coding OTTHUMT00000340030.1 - ENST00000415664.2 5'UTR SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 SLCO1A2 6579 ucsc.edu 37 12 21445161 21445161 + Missense_Mutation SNP A A G TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 A A Unknown Untested Somatic WXS none Illumina HiSeq 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr12:21445161A>G ENST00000458504.1 - 10.0 1407 c.1151T>C c.(1150-1152)tTg>tCg p.L384S SLCO1A2_ENST00000537524.1_Missense_Mutation_p.L384S|SLCO1A2_ENST00000307378.6_Missense_Mutation_p.L516S|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.L516S|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.L514S P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 516.0 bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) organic anion transmembrane transporter activity (GO:0008514) breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48.0 Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661) CATCGCTGACAAGATTAGGAA 0.388 0 61.0 59.0 60.0 12 21445161.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS8686.1 12p12 2013-05-22 2003-11-25 2003-11-26 ENSG00000084453 ENSG00000084453 6579.0 6579.0 """Solute carriers""" 10956.0 protein-coding gene gene with protein product 602883 """solute carrier family 21 (organic anion transporter), member 3""" SLC21A3 9007731 Standard NM_021094 NM_134431 Approved OATP, OATP1A2, OATP-A uc001rer.3 P46721 OTTHUMG00000156259 ENST00000458504.1:c.1151T>C 12.__UNKNOWN__:g.21445161A>G ENSP00000394854:p.Leu384Ser Q9UGP7|Q9UL38 __UNKNOWN__ . . . . . . . . . . A 9.962 1.223044 0.22457 . . ENSG00000084453 ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670 T;T;T;T;T 0.51071 0.72;0.72;0.72;0.72;0.72 5.09 5.09 0.68999 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.817986 0.11049 N 0.605293 T 0.58652 0.2137 M 0.81179 2.53 0.33358 D 0.57194 B;B 0.22983 0.078;0.062 B;B 0.34452 0.057;0.183 T 0.66830 -0.5824 10 0.72032 D 0.01 . 13.5947 0.61982 1.0:0.0:0.0:0.0 . 514;516 P46721-2;P46721 .;SO1A2_HUMAN S 516;516;384;384;514 ENSP00000305974:L516S;ENSP00000393973:L516S;ENSP00000394854:L384S;ENSP00000439401:L384S;ENSP00000375088:L514S ENSP00000305974:L516S L - 2 0 SLCO1A2 21336428 0.996000 0.38824 0.168000 0.22838 0.012000 0.07955 5.270000 0.65547 2.138000 0.66242 0.460000 0.39030 TTG SLCO1A2-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000343650.1 - ENST00000458504.1 Missense_Mutation SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 TRMT61B 55006 ucsc.edu 37 2 29087961 29087961 + Missense_Mutation SNP T T A TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee fdc71fac-fc42-48b8-8615-5ec0658f2124 g.chr2:29087961T>A ENST00000306108.5 - 2.0 747 c.724A>T c.(724-726)Atg>Ttg p.M242L NM_017910.3 NP_060380.3 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B (S. cerevisiae) 242.0 mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260) mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515) tRNA (adenine-N1-)-methyltransferase activity (GO:0016429) endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 13.0 TTGATATCCATCATTGAGAGA 0.393 0 66.0 58.0 61.0 2 29087961.0 2203.0 4300.0 6503.0 SO:0001583 missense BC010365 CCDS1768.1 2p23.2 2009-01-09 ENSG00000171103 ENSG00000171103 55006.0 55006.0 26070.0 protein-coding gene gene with protein product 11230166 Standard NM_017910 NM_017910 Approved FLJ20628 uc002rmm.3 Q9BVS5 OTTHUMG00000128433 ENST00000306108.5:c.724A>T 2.__UNKNOWN__:g.29087961T>A ENSP00000302801:p.Met242Leu Q9H0Q9|Q9NWS7 __UNKNOWN__ CCDS1768.1 . . . . . . . . . . T 10.70 1.424604 0.25639 . . ENSG00000171103 ENST00000306108 T 0.22336 1.96 5.07 3.86 0.44501 . 0.115705 0.56097 D 0.000039 T 0.12987 0.0315 N 0.05554 -0.025 0.31742 N 0.63566 B;P 0.34780 0.049;0.468 B;B 0.43680 0.039;0.427 T 0.18335 -1.0340 10 0.06625 T 0.88 . 11.6745 0.51422 0.0:0.0:0.1932:0.8068 . 242;242 F8WDR2;Q9BVS5 .;TR61B_HUMAN L 242 ENSP00000302801:M242L ENSP00000302801:M242L M - 1 0 TRMT61B 28941465 1.000000 0.71417 0.047000 0.18901 0.060000 0.15804 3.605000 0.54088 0.675000 0.31264 0.528000 0.53228 ATG TRMT61B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250224.1 - ENST00000306108.5 Missense_Mutation SNP PCPG-TCGA-WB-A81W-Normal-SM-5EMN4 QPCT 25797 broad.mit.edu 37 2 37594434 37594434 + Silent SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr2:37594434G>A ENST00000338415.3 + 4.0 764 c.606G>A c.(604-606)gaG>gaA p.E202E QPCT_ENST00000537448.1_Silent_p.E153E NM_012413.3 NP_036545.1 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase 202.0 cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186) extracellular vesicular exosome (GO:0070062) glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2) 17.0 Ovarian(717;0.051)|all_hematologic(82;0.21) ATGGTGAAGAGGCTTTTCTTC 0.458 0 130.0 127.0 128.0 2 37594434.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X71125 CCDS1790.1 2p22 2008-07-31 2008-07-31 ENSG00000115828 ENSG00000115828 25797.0 25797.0 2.3.2.5 9753.0 protein-coding gene gene with protein product """glutaminyl cyclase""" 607065 7999256 Standard NM_012413 Approved QC, GCT uc002rqg.3 Q16769 OTTHUMG00000100963 ENST00000338415.3:c.606G>A 2.__UNKNOWN__:g.37594434G>A Q16770|Q3KRG6|Q53TR4 __UNKNOWN__ CCDS1790.1 QPCT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000218572.2 + ENST00000338415.3 Silent SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML PVALB 5816 broad.mit.edu 37 22 37211274 37211274 + Missense_Mutation SNP C C T TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr22:37211274C>T ENST00000216200.5 - 3.0 122 c.67G>A c.(67-69)Gac>Aac p.D23N PVALB_ENST00000417718.2_Missense_Mutation_p.D23N|PVALB_ENST00000404171.1_5'UTR NM_002854.2 NP_002845.1 P20472 PRVA_HUMAN parvalbumin 23.0 cytosolic calcium ion homeostasis (GO:0051480) axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234) calcium ion binding (GO:0005509) large_intestine(1)|lung(1)|skin(1) 3.0 TCGAAGGAGTCGGTAGCTGTG 0.507 0 90.0 79.0 83.0 22 37211274.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS13933.1 22q13.1 2013-01-10 ENSG00000100362 ENSG00000100362 5816.0 5816.0 """EF-hand domain containing""" 9704.0 protein-coding gene gene with protein product 168890 1559707, 10591208 Standard NM_002854 NM_002854 Approved D22S749 uc003apx.3 P20472 OTTHUMG00000150547 ENST00000216200.5:c.67G>A 22.__UNKNOWN__:g.37211274C>T ENSP00000216200:p.Asp23Asn B2R4H7|P78378|Q4VB78|Q5R3Q9 __UNKNOWN__ CCDS13933.1 . . . . . . . . . . C 18.17 3.565160 0.65651 . . ENSG00000100362 ENST00000417718;ENST00000216200;ENST00000443735 T;T;T 0.76968 -1.06;-1.06;-0.79 5.21 5.21 0.72293 . 0.288720 0.37348 N 0.002121 D 0.82342 0.5016 M 0.83603 2.65 0.80722 D 1 P 0.39964 0.697 B 0.41202 0.35 D 0.85331 0.1090 10 0.62326 D 0.03 -17.2005 18.7559 0.91832 0.0:1.0:0.0:0.0 . 23 P20472 PRVA_HUMAN N 23 ENSP00000400247:D23N;ENSP00000216200:D23N;ENSP00000406977:D23N ENSP00000216200:D23N D - 1 0 PVALB 35541220 1.000000 0.71417 0.795000 0.32087 0.133000 0.20885 7.481000 0.81124 2.438000 0.82558 0.561000 0.74099 GAC PVALB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318857.1 - ENST00000216200.5 Missense_Mutation SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML U2AF1 7307 broad.mit.edu 37 21 44521486 44521486 + Translation_Start_Site SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr21:44521486G>A ENST00000380276.2 - 3.0 259 c.189C>T c.(187-189)gaC>gaT p.D63D U2AF1_ENST00000398137.1_De_novo_Start_InFrame|U2AF1_ENST00000486519.1_Intron|U2AF1_ENST00000291552.4_Intron|U2AF1_ENST00000459639.1_Intron NM_001025203.1 NP_001020374.1 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxiliary factor 1 63.0 gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681) metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 126.0 AGTGTGAGCCGTCAGCCGTCT 0.413 Mis """CLL, MDS""" Dom yes 21 21q22.3 7307.0 U2 small nuclear RNA auxiliary factor 1 L 0 275.0 301.0 292.0 21 44521486.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC001177 CCDS13694.1, CCDS33574.1, CCDS42948.1 21q22.3 2014-09-17 2006-04-11 ENSG00000160201 ENSG00000160201 7307.0 7307.0 """RNA binding motif (RRM) containing""" 12453.0 protein-coding gene gene with protein product 191317 """U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1""" U2AFBP 8660980, 7956352 Standard NM_006758 NM_006758 Approved U2AF35, RNU2AF1, RN uc002zdb.1 Q01081 OTTHUMG00000086836 ENST00000380276.2:c.189C>T 21.__UNKNOWN__:g.44521486G>A Q701P4|Q71RF1 __UNKNOWN__ CCDS33574.1 U2AF1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000195542.1 - ENST00000380276.2 Silent SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML TTN 7273 broad.mit.edu 37 2 179495667 179495667 + Missense_Mutation SNP C C A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr2:179495667C>A ENST00000589042.1 - 238.0 44242 c.44018G>T c.(44017-44019)cGg>cTg p.R14673L TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12105L|TTN_ENST00000359218.5_Missense_Mutation_p.R5733L|TTN_ENST00000460472.2_Missense_Mutation_p.R5608L|TTN_ENST00000342175.6_Missense_Mutation_p.R5800L|TTN_ENST00000591111.1_Missense_Mutation_p.R13032L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13032.0 Ig-like 96. adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) 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) 1448.0 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTAATTTCCCGATCTAGAAA 0.473 0 73.0 71.0 72.0 2 179495667.0 1906.0 4121.0 6027.0 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273.0 7273.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403.0 protein-coding gene gene with protein product 188840 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_133378 NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.44018G>T 2.__UNKNOWN__:g.179495667C>A ENSP00000467141:p.Arg14673Leu A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 __UNKNOWN__ CCDS59435.1 . . . . . . . . . . C 17.89 3.500091 0.64298 . . ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.39997 1.05;1.05;1.05;1.05 6.17 6.17 0.99709 Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.74359 0.3706 M 0.91612 3.225 0.58432 D 0.999999 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.81914 0.995;0.995;0.995;0.995 T 0.78173 -0.2307 9 0.87932 D 0 . 20.8794 0.99867 0.0:1.0:0.0:0.0 . 5608;5733;5800;13032 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN L 12105;5608;5800;5733;5608 ENSP00000343764:R12105L;ENSP00000434586:R5608L;ENSP00000340554:R5800L;ENSP00000352154:R5733L ENSP00000340554:R5800L R - 2 0 TTN 179203912 1.000000 0.71417 1.000000 0.80357 0.903000 0.53119 7.770000 0.85390 2.941000 0.99782 0.655000 0.94253 CGG TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 - ENST00000589042.1 Missense_Mutation SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML DPP9 91039 broad.mit.edu 37 19 4704312 4704312 + Missense_Mutation SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr19:4704312G>A ENST00000262960.9 - 6.0 708 c.431C>T c.(430-432)aCg>aTg p.T144M DPP9_ENST00000598800.1_Missense_Mutation_p.T115M|DPP9_ENST00000594671.1_Missense_Mutation_p.T115M|DPP9_ENST00000597849.1_Missense_Mutation_p.T144M NM_139159.4 NP_631898.3 Q86TI2 DPP9_HUMAN dipeptidyl-peptidase 9 115.0 cytoplasm (GO:0005737)|membrane (GO:0016020) aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236) cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20.0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) ATGGTGGGGCGTGGCCTGGAA 0.647 0 52.0 57.0 55.0 19 4704312.0 1983.0 4139.0 6122.0 SO:0001583 missense AF452102 CCDS45928.1 19p13.3 2014-06-11 2006-01-12 ENSG00000142002 ENSG00000142002 91039.0 91039.0 18648.0 protein-coding gene gene with protein product 608258 """dipeptidylpeptidase 9""" Standard NM_139159 Approved uc002mba.3 Q86TI2 OTTHUMG00000182040 ENST00000262960.9:c.431C>T 19.__UNKNOWN__:g.4704312G>A ENSP00000262960:p.Thr144Met O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3 __UNKNOWN__ CCDS45928.1 . . . . . . . . . . G 20.6 4.014449 0.75161 . . ENSG00000142002 ENST00000357909;ENST00000262960 T 0.32988 1.43 4.64 4.64 0.57946 . 0.000000 0.85682 D 0.000000 T 0.44052 0.1275 L 0.47716 1.5 0.80722 D 1 P;D 0.63046 0.607;0.992 B;P 0.58520 0.154;0.84 T 0.21621 -1.0240 10 0.38643 T 0.18 -17.2919 16.6576 0.85232 0.0:0.0:1.0:0.0 . 115;144 Q86TI2;Q1ZZB8 DPP9_HUMAN;. M 223;144 ENSP00000262960:T144M ENSP00000262960:T144M T - 2 0 DPP9 4655312 1.000000 0.71417 1.000000 0.80357 0.880000 0.50808 5.404000 0.66344 2.424000 0.82194 0.561000 0.74099 ACG DPP9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000458940.2 - ENST00000262960.9 Missense_Mutation SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML TATDN2 9797 broad.mit.edu 37 3 10318140 10318140 + Silent SNP A A G TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr3:10318140A>G ENST00000287652.4 + 5.0 2980 c.1929A>G c.(1927-1929)aaA>aaG p.K643K RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.K643K|TATDN2_ENST00000496355.1_3'UTR NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 643.0 activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968) intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654) deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872) 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) 28.0 AAATCATGAAAAAGTTTGTGC 0.468 0 82.0 75.0 78.0 3 10318140.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant D86972 CCDS33698.1 3p25.3 2010-11-24 ENSG00000157014 ENSG00000157014 9797.0 9797.0 28988.0 protein-coding gene gene with protein product 9039502 Standard XM_376203 NM_014760 Approved KIAA0218 uc003bvf.3 Q93075 OTTHUMG00000155361 ENST00000287652.4:c.1929A>G 3.__UNKNOWN__:g.10318140A>G Q3MIL9|Q5BKU0 __UNKNOWN__ CCDS33698.1 TATDN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000339641.1 + ENST00000287652.4 Silent SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML PMFBP1 83449 broad.mit.edu 37 16 72188312 72188312 + Missense_Mutation SNP T T C TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr16:72188312T>C ENST00000237353.10 - 4.0 473 c.212A>G c.(211-213)gAa>gGa p.E71G PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000537465.1_Missense_Mutation_p.E71G|PMFBP1_ENST00000355636.6_5'UTR NM_031293.2 NP_112583.2 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 71.0 cytoplasm (GO:0005737) NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45.0 Ovarian(137;0.179) GGACCCAAATTCCACCTCTGA 0.433 0 160.0 140.0 147.0 16 72188312.0 2198.0 4300.0 6498.0 SO:0001583 missense AF239683 CCDS32483.1 16q23.1 2008-08-04 ENSG00000118557 ENSG00000118557 83449.0 83449.0 17728.0 protein-coding gene gene with protein product 11468771 Standard NM_031293 NM_031293 Approved uc002fcd.3 Q8TBY8 OTTHUMG00000167827 ENST00000237353.10:c.212A>G 16.__UNKNOWN__:g.72188312T>C ENSP00000237353:p.Glu71Gly B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4 __UNKNOWN__ CCDS32483.1 . . . . . . . . . . T 26.5 4.743627 0.89663 . . ENSG00000118557 ENST00000537465;ENST00000237353;ENST00000535461;ENST00000539172 T;T 0.16196 2.36;2.36 6.01 4.91 0.64330 . 0.402385 0.21520 N 0.073236 T 0.11239 0.0274 N 0.14661 0.345 0.25488 N 0.987673 P;P 0.36909 0.573;0.573 B;B 0.36666 0.23;0.23 T 0.12578 -1.0542 10 0.72032 D 0.01 -2.1935 10.3467 0.43909 0.0:0.0:0.1651:0.8349 . 71;71 Q8TBY8-2;G3V1Q7 .;. G 71 ENSP00000443817:E71G;ENSP00000237353:E71G ENSP00000237353:E71G E - 2 0 PMFBP1 70745813 0.025000 0.19082 0.003000 0.11579 0.796000 0.44982 2.443000 0.44881 1.085000 0.41206 0.528000 0.53228 GAA PMFBP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000396473.2 - ENST00000237353.10 Missense_Mutation SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML BEND5 79656 broad.mit.edu 37 1 49224701 49224701 + Missense_Mutation SNP G G A rs150209705 by1000genomes TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr1:49224701G>A ENST00000371833.3 - 3.0 702 c.616C>T c.(616-618)Cgg>Tgg p.R206W AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR NM_024603.2 NP_078879.2 Q7L4P6 BEND5_HUMAN BEN domain containing 5 206.0 Golgi apparatus (GO:0005794) large_intestine(5)|lung(2)|skin(1) 8.0 CTCCGAGTCCGCTCCAGCTCC 0.587 G 3.0 0.0014 0.01 2184.0 1.0 , , 0.0003 0.0014 1.0 LOWCOV,EXOME 0.0006 SNP 0 98.0 92.0 94.0 1 49224701.0 2203.0 4300.0 6503.0 SO:0001583 missense BC007932 CCDS552.2 1p33 2012-11-22 2008-10-03 2008-10-03 ENSG00000162373 ENSG00000162373 79656.0 79656.0 """BEN domain containing""" 25668.0 protein-coding gene gene with protein product """chromosome 1 open reading frame 165""" C1orf165 12477932 Standard NM_024603 NM_024603 Approved FLJ11588 uc001crx.4 Q7L4P6 OTTHUMG00000008153 ENST00000371833.3:c.616C>T 1.__UNKNOWN__:g.49224701G>A ENSP00000360899:p.Arg206Trp D3DQ27|Q96A62|Q9HAI3 __UNKNOWN__ CCDS552.2 3 0.0013736263736263737 3 0.006097560975609756 0 0.0 0 0.0 0 0.0 G 19.81 3.896324 0.72639 . . ENSG00000162373 ENST00000371833 . . . 5.4 5.4 0.78164 . 0.000000 0.85682 D 0.000000 T 0.55721 0.1938 L 0.32530 0.975 0.52099 D 0.999947 D 0.89917 1.0 D 0.75020 0.985 T 0.57260 -0.7842 8 . . . -19.1073 12.259 0.54638 0.0:0.0:0.7338:0.2662 . 206 Q7L4P6 BEND5_HUMAN W 206 . . R - 1 2 BEND5 48997288 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 3.406000 0.52637 2.699000 0.92147 0.655000 0.94253 CGG BEND5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000022323.1 - ENST00000371833.3 Missense_Mutation SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML RP9 6100 broad.mit.edu 37 7 33136944 33136944 + Missense_Mutation SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr7:33136944G>A ENST00000297157.3 - 4.0 361 c.344C>T c.(343-345)aCg>aTg p.T115M NM_203288.1 NP_976033.1 Q8TA86 RP9_HUMAN retinitis pigmentosa 9 (autosomal dominant) 115.0 PIM1-binding. {ECO:0000250}. cognition (GO:0050890)|RNA splicing (GO:0008380) nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785) poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) large_intestine(3)|lung(3)|urinary_tract(1) 7.0 GBM - Glioblastoma multiforme(11;0.0403) TTTGTCACCCGTTCGGTGACC 0.378 0 105.0 99.0 101.0 7 33136944.0 2203.0 4300.0 6503.0 SO:0001583 missense AX016710 CCDS5440.1 7p14.3 2014-01-28 ENSG00000164610 ENSG00000164610 6100.0 6100.0 10288.0 protein-coding gene gene with protein product """Pim-1 kinase associated protein""" 607331 8513323 Standard NM_203288 NM_203288 Approved PAP-1 uc003tdm.3 Q8TA86 OTTHUMG00000152988 ENST00000297157.3:c.344C>T 7.__UNKNOWN__:g.33136944G>A ENSP00000297157:p.Thr115Met __UNKNOWN__ CCDS5440.1 . . . . . . . . . . G 20.5 4.004880 0.74932 . . ENSG00000164610 ENST00000297157;ENST00000448915 D;T 0.84800 -1.9;-1.04 3.77 3.77 0.43336 Zinc finger, CCHC-type (1); 0.000000 0.85682 D 0.000000 D 0.90130 0.6916 M 0.62723 1.935 0.58432 D 0.999999 D 0.89917 1.0 D 0.64237 0.923 D 0.91800 0.5451 10 0.87932 D 0 -45.3719 16.449 0.83973 0.0:0.0:1.0:0.0 . 115 Q8TA86 RP9_HUMAN M 115;81 ENSP00000297157:T115M;ENSP00000411577:T81M ENSP00000297157:T115M T - 2 0 RP9 33103469 1.000000 0.71417 0.993000 0.49108 0.790000 0.44656 7.079000 0.76829 2.028000 0.59812 0.400000 0.26472 ACG RP9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000328914.1 - ENST00000297157.3 Missense_Mutation SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML MUC16 94025 broad.mit.edu 37 19 9060544 9060544 + Missense_Mutation SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr19:9060544G>A ENST00000397910.4 - 3.0 27105 c.26902C>T c.(26902-26904)Cca>Tca p.P8968S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8970.0 Ser-rich.|Thr-rich. cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982) p.P8968A(2)|p.P4601A(1) 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) 590.0 GTGACCACTGGAGATGTCACT 0.463 3 Substitution - Missense(3) lung(3) 209.0 194.0 199.0 19 9060544.0 1978.0 4169.0 6147.0 SO:0001583 missense AF414442 CCDS54212.1 19p13.2 2008-02-05 2006-03-14 ENSG00000181143 94025.0 94025.0 """Mucins""" 15582.0 protein-coding gene gene with protein product 606154 11369781 Standard NM_024690 XM_006722941 Approved CA125, FLJ14303 uc002mkp.3 Q8WXI7 ENST00000397910.4:c.26902C>T 19.__UNKNOWN__:g.9060544G>A ENSP00000381008:p.Pro8968Ser Q6ZQW5|Q96RK2 __UNKNOWN__ CCDS54212.1 . . . . . . . . . . g 5.735 0.320013 0.10845 . . ENSG00000181143 ENST00000397910 T 0.62498 0.02 2.62 -1.32 0.09201 . . . . . T 0.47967 0.1474 L 0.43923 1.385 . . . B 0.32573 0.376 B 0.32583 0.148 T 0.49925 -0.8887 8 0.87932 D 0 . 4.4305 0.11525 0.168:0.4839:0.3481:0.0 . 8968 B5ME49 . S 8968 ENSP00000381008:P8968S ENSP00000381008:P8968S P - 1 0 MUC16 8921544 0.000000 0.05858 0.001000 0.08648 0.130000 0.20726 -0.716000 0.04991 -0.160000 0.11002 0.306000 0.20318 CCA MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402806.1 - ENST00000397910.4 Missense_Mutation SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML PRSS27 83886 broad.mit.edu 37 16 2763562 2763562 + Missense_Mutation SNP C C T TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr16:2763562C>T ENST00000302641.3 - 5.0 700 c.646G>A c.(646-648)Ggc>Agc p.G216S NM_031948.3 NP_114154.1 Q9BQR3 PRS27_HUMAN protease, serine 27 216.0 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. extracellular region (GO:0005576)|plasma membrane (GO:0005886) serine-type endopeptidase activity (GO:0004252) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8.0 TCCTCGAAGCCGGCGCACAGC 0.582 0 C SER/GLY 1,4395 0,1,2197 249.0 177.0 202.0 646 5.3 1.0 16 202.0 1,8599 0,1,4299 no missense PRSS27 NM_031948.3 56 0,2,6496 TT,TC,CC 0.0116,0.0227,0.0154 probably-damaging 216/291 2763562.0 2,12994 2198.0 4300.0 6498.0 SO:0001583 missense AB056161 CCDS10476.1 16p13.3 2010-05-07 ENSG00000172382 ENSG00000172382 83886.0 83886.0 """Serine peptidases / Serine peptidases""" 15475.0 protein-coding gene gene with protein product 608018 Standard NM_031948 NM_031948 Approved MPN, pancreasin, CAPH2, marapsin uc002crf.3 Q9BQR3 OTTHUMG00000128929 ENST00000302641.3:c.646G>A 16.__UNKNOWN__:g.2763562C>T ENSP00000306390:p.Gly216Ser __UNKNOWN__ CCDS10476.1 . . . . . . . . . . . 17.79 3.476705 0.63737 2.27E-4 1.16E-4 ENSG00000172382 ENST00000302641;ENST00000543965 D 0.90676 -2.71 5.26 5.26 0.73747 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 0.120193 0.37715 N 0.001962 D 0.95408 0.8509 M 0.84326 2.69 0.58432 D 0.999999 D;D 0.89917 1.0;1.0 D;D 0.72338 0.977;0.959 D 0.95928 0.8936 10 0.87932 D 0 . 16.3571 0.83239 0.0:1.0:0.0:0.0 . 216;180 Q9BQR3;B3KP25 PRS27_HUMAN;. S 216;180 ENSP00000306390:G216S ENSP00000306390:G216S G - 1 0 PRSS27 2703563 0.998000 0.40836 0.994000 0.49952 0.036000 0.12997 4.857000 0.62939 2.460000 0.83146 0.442000 0.29010 GGC PRSS27-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250908.1 - ENST00000302641.3 Missense_Mutation SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML KLC4 89953 broad.mit.edu 37 6 43034200 43034200 + Missense_Mutation SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr6:43034200G>A ENST00000453940.2 + 4.0 577 c.497G>A c.(496-498)cGc>cAc p.R166H KLC4_ENST00000394058.1_Missense_Mutation_p.R243H|KLC4_ENST00000458460.2_Missense_Mutation_p.R243H|KLC4_ENST00000259708.3_Missense_Mutation_p.R261H|KLC4_ENST00000347162.5_Missense_Mutation_p.R243H|KLC4_ENST00000394056.2_Missense_Mutation_p.R243H|KLC4_ENST00000479388.1_Missense_Mutation_p.R243H Q9NSK0 KLC4_HUMAN kinesin light chain 4 243.0 cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874) microtubule motor activity (GO:0003777) endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23.0 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) GACCTGGAGCGCACATCAGGC 0.597 0 147.0 109.0 122.0 6 43034200.0 2203.0 4300.0 6503.0 SO:0001583 missense AK055293 CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1 6p21.1 2013-01-10 2005-09-13 2005-09-13 ENSG00000137171 ENSG00000137171 89953.0 89953.0 """Tetratricopeptide (TTC) repeat domain containing""" 21624.0 protein-coding gene gene with protein product """kinesin-like 8""" KNSL8 Standard NM_138343 NM_001289034 Approved bA387M24.3 uc003otw.1 Q9NSK0 OTTHUMG00000014720 ENST00000453940.2:c.497G>A 6.__UNKNOWN__:g.43034200G>A ENSP00000395806:p.Arg166His B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6 __UNKNOWN__ . . . . . . . . . . G 24.2 4.500486 0.85176 . . ENSG00000137171 ENST00000347162;ENST00000453940;ENST00000479632;ENST00000470728;ENST00000458460;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058 T;T;T;T;T;T;T;T;T 0.46451 0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87 4.47 3.59 0.41128 Tetratricopeptide-like helical (1);Rabaptin, GTPase-Rab5 binding (1);Tetratricopeptide repeat-containing (1); 0.122449 0.36101 N 0.002797 T 0.30823 0.0777 L 0.46157 1.445 0.41786 D 0.989846 D;P;D;D 0.65815 0.995;0.954;0.963;0.985 P;P;P;P 0.55713 0.778;0.584;0.515;0.782 T 0.33879 -0.9851 10 0.87932 D 0 -16.5334 3.3713 0.07222 0.2064:0.0:0.5745:0.2191 . 166;261;243;243 B4DME9;Q9NSK0-3;Q9NSK0;Q96EG6 .;.;KLC4_HUMAN;. H 243;166;156;221;243;261;243;243;243 ENSP00000340221:R243H;ENSP00000395806:R166H;ENSP00000419784:R156H;ENSP00000417652:R221H;ENSP00000410358:R243H;ENSP00000259708:R261H;ENSP00000418031:R243H;ENSP00000377620:R243H;ENSP00000377622:R243H ENSP00000259708:R261H R + 2 0 KLC4 43142178 1.000000 0.71417 1.000000 0.80357 0.975000 0.68041 7.314000 0.78988 1.211000 0.43351 0.650000 0.86243 CGC KLC4-004 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000358142.1 + ENST00000453940.2 Missense_Mutation SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML PTPN14 5784 broad.mit.edu 37 1 214537876 214537876 + Missense_Mutation SNP G G C TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr1:214537876G>C ENST00000366956.5 - 18.0 3608 c.3414C>G c.(3412-3414)atC>atG p.I1138M PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 1138.0 Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}. lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58.0 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CCAAGCAGTAGATCATCAGCT 0.567 Colon(92;557 1424 24372 34121 40073) 0 114.0 107.0 109.0 1 214537876.0 2203.0 4300.0 6503.0 SO:0001583 missense X82676 CCDS1514.1 1q32.2 2011-06-09 ENSG00000152104 ENSG00000152104 5784.0 5784.0 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor""" 9647.0 protein-coding gene gene with protein product 603155 7733990 Standard NM_005401 NM_005401 Approved PEZ uc001hkk.2 Q15678 OTTHUMG00000037039 ENST00000366956.5:c.3414C>G 1.__UNKNOWN__:g.214537876G>C ENSP00000355923:p.Ile1138Met Q5VSI0 __UNKNOWN__ CCDS1514.1 . . . . . . . . . . G 17.26 3.343312 0.61073 . . ENSG00000152104 ENST00000366956 D 0.83992 -1.79 5.5 3.46 0.39613 Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1); 0.051393 0.85682 D 0.000000 T 0.80428 0.4621 L 0.35487 1.065 0.80722 D 1 P 0.38711 0.643 P 0.57776 0.827 T 0.75039 -0.3458 10 0.21014 T 0.42 . 2.4223 0.04451 0.2467:0.0:0.4607:0.2926 . 1138 Q15678 PTN14_HUMAN M 1138 ENSP00000355923:I1138M ENSP00000355923:I1138M I - 3 3 PTPN14 212604499 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 2.062000 0.41413 2.581000 0.87130 0.655000 0.94253 ATC PTPN14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000089918.2 - ENST00000366956.5 Missense_Mutation SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML AGAP11 119385 broad.mit.edu 37 10 88769022 88769022 + RNA SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr10:88769022G>A ENST00000444431.1 + 0.0 3622 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity (GO:0032312) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) CAAAACATGCGTGGGAACTCC 0.552 0 146.0 157.0 153.0 10 88769022.0 2203.0 4300.0 6503.0 10q23.2 2013-01-11 ENSG00000151303 ENSG00000151303 119385.0 119385.0 """ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing""" 29421.0 protein-coding gene gene with protein product 11853319 Standard NM_133447 NM_133447 Approved KIAA1975 uc001kee.2 Q8TF27 OTTHUMG00000018667 ENST00000444431.1: 10.__UNKNOWN__:g.88769022G>A B9EIP7|D3DWE4 __UNKNOWN__ AGAP11-001 KNOWN basic|readthrough_transcript processed_transcript processed_transcript OTTHUMT00000049193.1 + ENST00000444431.1 RNA SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML SHPRH 257218 broad.mit.edu 37 6 146262866 146262866 + Missense_Mutation SNP G G T TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr6:146262866G>T ENST00000367505.2 - 10.0 2647 c.2383C>A c.(2383-2385)Cta>Ata p.L795I SHPRH_ENST00000275233.7_Missense_Mutation_p.L795I|SHPRH_ENST00000367503.3_Missense_Mutation_p.L795I|SHPRH_ENST00000438092.2_Missense_Mutation_p.L795I Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 795.0 Helicase ATP-binding; second part. {ECO:0000255|PROSITE-ProRule:PRU00541}. DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209) nucleosome (GO:0000786)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) 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) 79.0 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TGGTTCCGTAGGCGACGCCCA 0.483 0 74.0 80.0 78.0 6 146262866.0 2026.0 4190.0 6216.0 SO:0001583 missense AB095943 CCDS43513.1, CCDS47496.1, CCDS43513.2 6q24.2 2012-02-23 2012-02-23 ENSG00000146414 ENSG00000146414 257218.0 257218.0 """RING-type (C3HC4) zinc fingers""" 19336.0 protein-coding gene gene with protein product 608048 """SNF2 histone linker PHD RING helicase""" 12837266 Standard NM_173082 NM_001042683 Approved FLJ90837, KIAA2023, bA545I5.2 uc003qlf.3 Q149N8 OTTHUMG00000015750 ENST00000367505.2:c.2383C>A 6.__UNKNOWN__:g.146262866G>T ENSP00000356475:p.Leu795Ile Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7 __UNKNOWN__ CCDS43513.2 . . . . . . . . . . G 14.30 2.495734 0.44352 . . ENSG00000146414 ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233 D;D;D;D 0.93366 -3.21;-3.21;-3.21;-3.21 5.69 0.988 0.19796 DEAD-like helicase (1);SNF2-related (1); 0.252546 0.31472 N 0.007591 T 0.81941 0.4929 L 0.39467 1.215 0.39738 D 0.971701 P;B;B 0.42296 0.775;0.243;0.204 B;B;B 0.38156 0.266;0.13;0.079 T 0.77905 -0.2413 10 0.48119 T 0.1 -2.2272 8.7633 0.34687 0.8031:0.0:0.1969:0.0 . 684;795;795 Q149N8-2;Q149N8;Q149N8-4 .;SHPRH_HUMAN;. I 795 ENSP00000356475:L795I;ENSP00000356473:L795I;ENSP00000412797:L795I;ENSP00000275233:L795I ENSP00000275233:L795I L - 1 2 SHPRH 146304559 1.000000 0.71417 0.125000 0.21846 0.780000 0.44128 5.240000 0.65378 0.243000 0.21327 -0.157000 0.13467 CTA SHPRH-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000042571.2 - ENST00000367505.2 Missense_Mutation SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML UBC 7316 broad.mit.edu 37 12 125397415 125397415 + Silent SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr12:125397415G>A ENST00000538617.1 - 3.0 768 UBC_ENST00000536769.1_Silent_p.L301L|UBC_ENST00000339647.5_Silent_p.L301L|UBC_ENST00000546120.1_Silent_p.L225L P0CG48 UBC_HUMAN ubiquitin C activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068) cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886) poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36.0 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) TCCCACCTCTGAGACGGAGCA 0.532 0 69.0 61.0 64.0 12 125397415.0 2202.0 4284.0 6486.0 SO:0001627 intron_variant CCDS9260.1 12q24.3 2008-09-08 ENSG00000150991 ENSG00000150991 7316.0 7316.0 12468.0 protein-coding gene gene with protein product """polyubiquitin-C""" 191340 1315303, 11872750 Standard NM_021009 NM_021009 Approved uc001ugs.4 P0CG48 ENST00000538617.1:c.451+451C>T 12.__UNKNOWN__:g.125397415G>A P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7 __UNKNOWN__ UBC-003 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000400179.1 - ENST00000538617.1 Intron SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML MAN1B1 11253 broad.mit.edu 37 9 140001177 140001177 + Silent SNP C C A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr9:140001177C>A ENST00000371589.4 + 10.0 1555 c.1482C>A c.(1480-1482)gtC>gtA p.V494V MAN1B1_ENST00000474902.1_Silent_p.V197V|MAN1B1_ENST00000540391.1_3'UTR NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 494.0 cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982) calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14.0 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) TCGAGGGTGTCAGAACGCACC 0.627 0 105.0 85.0 92.0 9 140001177.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF145732 CCDS7029.1 9q34.3 2014-05-27 ENSG00000177239 ENSG00000177239 11253.0 11253.0 6823.0 protein-coding gene gene with protein product """endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase""" 604346 10409699, 10521544 Standard NM_016219 NM_016219 Approved MANA-ER, MRT15 uc004cld.3 Q9UKM7 OTTHUMG00000020978 ENST00000371589.4:c.1482C>A 9.__UNKNOWN__:g.140001177C>A Q5VSG3|Q9BRS9|Q9Y5K7 __UNKNOWN__ CCDS7029.1 . . . . . . . . . . C 4.997 0.185094 0.09495 . . ENSG00000177239 ENST00000535144 . . . 4.95 -3.3 0.05003 . . . . . T 0.56775 0.2008 . . . 0.51482 D 0.99992 . . . . . . T 0.54892 -0.8225 4 . . . . 11.5798 0.50885 0.1523:0.4056:0.4421:0.0 . . . . K 468 . . Q + 1 0 MAN1B1 139120998 0.889000 0.30405 0.000000 0.03702 0.000000 0.00434 -0.091000 0.11146 -0.794000 0.04468 -1.086000 0.02197 CAG MAN1B1-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055294.2 + ENST00000371589.4 Silent SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML SFTPC 6440 broad.mit.edu 37 8 22021505 22021505 + Missense_Mutation SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr8:22021505G>A ENST00000524255.1 + 4.0 408 c.386G>A c.(385-387)gGc>gAc p.G129D SFTPC_ENST00000437090.2_3'UTR|SFTPC_ENST00000521315.1_Missense_Mutation_p.G176D|SFTPC_ENST00000522109.1_3'UTR|SFTPC_ENST00000318561.3_Missense_Mutation_p.G182D|SFTPC_ENST00000520605.1_Intron P11686 PSPC_HUMAN surfactant protein C 182.0 BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}. cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|circadian rhythm (GO:0007623)|protein homooligomerization (GO:0051260)|respiratory gaseous exchange (GO:0007585)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to growth factor (GO:0070848)|response to hyperoxia (GO:0055093)|response to interleukin-6 (GO:0070741)|response to lipopolysaccharide (GO:0032496)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189) alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|multivesicular body (GO:0005771) autonomic_ganglia(1)|large_intestine(1)|lung(1) 3.0 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GCCTTCCTGGGCATGGCCGTG 0.672 0 46.0 55.0 52.0 8 22021505.0 2038.0 4183.0 6221.0 SO:0001583 missense CCDS43722.1, CCDS55209.1 8p21 2012-10-10 2008-08-26 ENSG00000168484 ENSG00000168484 6440.0 6440.0 """BRICHOS domain containing""" 10802.0 protein-coding gene gene with protein product """BRICHOS domain containing 6""" 178620 """surfactant, pulmonary-associated protein C""" SFTP2 1859376, 16709565 Standard NM_003018 NM_003018 Approved SP-C, PSP-C, SMDP2, BRICD6 uc003xay.4 P11686 OTTHUMG00000163775 ENST00000524255.1:c.386G>A 8.__UNKNOWN__:g.22021505G>A ENSP00000429552:p.Gly129Asp A6XNE4|B2RE00|E9PGX3|P11687|Q12793|Q7Z5D0 __UNKNOWN__ . . . . . . . . . . G 27.5 4.834242 0.91036 . . ENSG00000168484 ENST00000318561;ENST00000521315;ENST00000524255;ENST00000523296 D;D;D;D 0.84223 -1.82;-1.82;-1.82;-1.82 5.5 5.5 0.81552 BRICHOS (2); 0.000000 0.52532 D 0.000063 D 0.91036 0.7180 M 0.72118 2.19 0.45762 D 0.99865 D;D 0.76494 0.997;0.999 D;D 0.67103 0.927;0.949 D 0.91681 0.5358 10 0.72032 D 0.01 -15.7022 14.887 0.70575 0.0:0.0:1.0:0.0 . 176;182 E9PGX3;P11686 .;PSPC_HUMAN D 182;176;129;123 ENSP00000316152:G182D;ENSP00000430410:G176D;ENSP00000429552:G129D;ENSP00000429619:G123D ENSP00000316152:G182D G + 2 0 SFTPC 22077450 1.000000 0.71417 0.974000 0.42286 0.900000 0.52787 5.352000 0.66028 2.578000 0.87016 0.650000 0.86243 GGC SFTPC-007 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000375370.1 + ENST00000524255.1 Missense_Mutation SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML EXTL2 2135 broad.mit.edu 37 1 101339869 101339869 + Missense_Mutation SNP A A G TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr1:101339869A>G ENST00000370114.3 - 5.0 2058 c.622T>C c.(622-624)Tac>Cac p.Y208H EXTL2_ENST00000535414.1_Missense_Mutation_p.Y195H|EXTL2_ENST00000370113.3_Missense_Mutation_p.Y208H NM_001033025.2|NM_001261440.1 NP_001028197.1|NP_001248369.1 Q9UBQ6 EXTL2_HUMAN exostosin-like glycosyltransferase 2 208.0 heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227) alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 14.0 all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195) ACCATAGAGTACTGGTCACCA 0.413 0 48.0 47.0 47.0 1 101339869.0 2203.0 4299.0 6502.0 SO:0001583 missense U76189 CCDS775.1, CCDS72831.1 1p21 2013-03-01 2013-03-01 ENSG00000162694 ENSG00000162694 2135.0 2135.0 2.4.1.223 """Exostosin glycosyltransferase family""" 3516.0 protein-coding gene gene with protein product """alpha-1,4-N-acteylhexosaminyltransferase""" 602411 """exostoses (multiple)-like 2""" 9450183, 15831490 Standard NM_001439 NM_001439 Approved uc001dtk.2 Q9UBQ6 OTTHUMG00000011814 ENST00000370114.3:c.622T>C 1.__UNKNOWN__:g.101339869A>G ENSP00000359132:p.Tyr208His B2R795|D3DT60 __UNKNOWN__ CCDS775.1 . . . . . . . . . . A 22.7 4.326895 0.81690 . . ENSG00000162694 ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240 D;D;D;D 0.90563 -2.69;-2.69;-2.69;-2.69 5.88 5.88 0.94601 EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1); 0.000000 0.85682 D 0.000000 D 0.95959 0.8684 M 0.90870 3.155 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.87578 0.998;0.998 D 0.96838 0.9616 10 0.87932 D 0 -21.3736 16.2794 0.82664 1.0:0.0:0.0:0.0 . 207;208 Q8N8F1;Q9UBQ6 .;EXTL2_HUMAN H 208;208;195;216 ENSP00000359132:Y208H;ENSP00000359131:Y208H;ENSP00000444385:Y195H;ENSP00000403363:Y216H ENSP00000359131:Y208H Y - 1 0 EXTL2 101112457 1.000000 0.71417 1.000000 0.80357 0.930000 0.56654 8.962000 0.93254 2.251000 0.74343 0.482000 0.46254 TAC EXTL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000032705.1 - ENST00000370114.3 Missense_Mutation SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML NFIC 4782 broad.mit.edu 37 19 3382111 3382111 + Silent SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr19:3382111G>A ENST00000443272.2 + 2.0 483 c.432G>A c.(430-432)gaG>gaA p.E144E NFIC_ENST00000590282.1_Silent_p.E144E|NFIC_ENST00000586919.1_Silent_p.E135E|NFIC_ENST00000341919.3_Silent_p.E144E|NFIC_ENST00000589123.1_Silent_p.E135E|NFIC_ENST00000346156.5_Silent_p.E135E|NFIC_ENST00000395111.3_Silent_p.E135E NM_001245002.1 NP_001231931.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 144.0 DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366) nucleolus (GO:0005730)|nucleus (GO:0005634) core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21.0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) TCCCGCTGGAGAGCACCGACG 0.667 0 67.0 71.0 70.0 19 3382111.0 2203.0 4299.0 6502.0 SO:0001819 synonymous_variant X12492 CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1 19p13.3 2008-02-05 ENSG00000141905 4782.0 4782.0 7786.0 protein-coding gene gene with protein product 600729 NFI 3398920, 7590749 Standard NM_005597 NM_205843 Approved CTF, NF-I, CTF5 uc010xhi.2 P08651 ENST00000443272.2:c.432G>A 19.__UNKNOWN__:g.3382111G>A A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1 __UNKNOWN__ CCDS59330.1 NFIC-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452834.1 + ENST00000443272.2 Silent SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML H1F0 3005 broad.mit.edu 37 22 38201891 38201891 + Missense_Mutation SNP A A G TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr22:38201891A>G ENST00000340857.2 + 1.0 778 c.340A>G c.(340-342)Atc>Gtc p.I114V NM_005318.3 NP_005309.1 P07305 H10_HUMAN H1 histone family, member 0 114.0 apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|nucleosome assembly (GO:0006334) actin cytoskeleton (GO:0015629)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634) chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822) cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1) 7.0 Melanoma(58;0.045) CAAGAAGGAAATCAAGAAGGT 0.572 NSCLC(191;1872 2984 30230 41544)|Esophageal Squamous(4;11 371 39444 52196) 0 61.0 66.0 64.0 22 38201891.0 2203.0 4300.0 6503.0 SO:0001583 missense X03473 CCDS13956.1 22q13.1 2011-01-27 ENSG00000189060 ENSG00000189060 3005.0 3005.0 """Histones / Replication-independent""" 4714.0 protein-coding gene gene with protein product """H1.0, H1(0), H1-0""" 142708 H1FV 3084796 Standard NM_005318 NM_005318 Approved H10 uc003aty.3 P07305 OTTHUMG00000150659 ENST00000340857.2:c.340A>G 22.__UNKNOWN__:g.38201891A>G ENSP00000344504:p.Ile114Val B2R6I0|B4DRD6|Q6FG88|Q8N6R3 __UNKNOWN__ CCDS13956.1 . . . . . . . . . . a 5.014 0.188273 0.09547 . . ENSG00000189060 ENST00000340857;ENST00000455466 T 0.04194 3.68 5.27 3.1 0.35709 . 0.911165 0.09306 N 0.820192 T 0.01695 0.0054 N 0.01352 -0.895 0.27283 N 0.958057 B 0.02656 0.0 B 0.01281 0.0 T 0.38757 -0.9646 10 0.02654 T 1 . 8.9619 0.35851 0.2274:0.0:0.7726:0.0 . 114 P07305 H10_HUMAN V 114;97 ENSP00000344504:I114V ENSP00000344504:I114V I + 1 0 H1F0 36531837 0.999000 0.42202 1.000000 0.80357 0.959000 0.62525 2.432000 0.44784 0.721000 0.32231 -0.177000 0.13119 ATC H1F0-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000319453.1 + ENST00000340857.2 Missense_Mutation SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML THSD7B 80731 broad.mit.edu 37 2 138413157 138413157 + Silent SNP C C T TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr2:138413157C>T ENST00000409968.1 + 22.0 4210 c.4032C>T c.(4030-4032)gtC>gtT p.V1344V THSD7B_ENST00000413152.2_Silent_p.V1316V|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.V1347V Q9C0I4 THS7B_HUMAN thrombospondin, type I, domain containing 7B 1346.0 TSP type-1 17. {ECO:0000255|PROSITE- ProRule:PRU00210}. integral component of membrane (GO:0016021) 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) 134.0 BRCA - Breast invasive adenocarcinoma(221;0.19) CTGGACGTGTCGAGGATGCAC 0.537 0 88.0 88.0 88.0 2 138413157.0 2113.0 4228.0 6341.0 SO:0001819 synonymous_variant 2q22.1 2006-11-24 ENSG00000144229 ENSG00000144229 80731.0 80731.0 29348.0 protein-coding gene gene with protein product 11214970 Standard XM_046570.9 NM_001080427 Approved KIAA1679 uc002tva.1 Q9C0I4 OTTHUMG00000153590 ENST00000409968.1:c.4032C>T 2.__UNKNOWN__:g.138413157C>T __UNKNOWN__ THSD7B-001 NOVEL not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000331769.2 + ENST00000409968.1 Silent SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML EVI2A 2123 broad.mit.edu 37 17 29645689 29645691 + In_Frame_Del DEL TGC TGC - TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr17:29645689_29645691delTGC ENST00000247270.3 - 3.0 746_748 c.410_412delGCA c.(409-414)agcaaa>aaa p.S137del EVI2A_ENST00000461237.1_In_Frame_Del_p.S114del|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000462804.2_In_Frame_Del_p.S114del|CTD-2370N5.3_ENST00000578584.1_In_Frame_Del_p.Q54del|NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron NM_001003927.2 NP_001003927.1 P22794 EVI2A_HUMAN ecotropic viral integration site 2A 114.0 signal transduction (GO:0007165) integral component of membrane (GO:0016021) transmembrane signaling receptor activity (GO:0004888) p.0?(8)|p.?(3) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 14.0 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18) CCATGACTTTTGCTTGTGTTTTC 0.36 11 Whole gene deletion(8)|Unknown(3) soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1) SO:0001651 inframe_deletion M55267 CCDS32608.1, CCDS42293.1 17q11.2 2008-07-18 ENSG00000126860 ENSG00000126860 2123.0 2123.0 3499.0 protein-coding gene gene with protein product 158380 EVI2 2117566 Standard NM_014210 NM_014210 Approved EVDA uc002hgm.3 P22794 OTTHUMG00000159306 ENST00000247270.3:c.410_412delGCA 17.__UNKNOWN__:g.29645689_29645691delTGC ENSP00000247270:p.Ser137del B2R5X2|B4DHX8 __UNKNOWN__ CCDS32608.1 EVI2A-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000354492.1 - ENST00000247270.3 In_Frame_Del DEL PCPG-TCGA-WB-A820-Normal-SM-5EMML KMT2A 4297 bcgsc.ca 37 11 118359473 118359473 + Missense_Mutation SNP A A G TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr11:118359473A>G ENST00000534358.1 + 11.0 4500 c.4477A>G c.(4477-4479)Aag>Gag p.K1493E KMT2A_ENST00000389506.5_Missense_Mutation_p.K1493E|KMT2A_ENST00000354520.4_Missense_Mutation_p.K1455E NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 Q03164 KMT2A_HUMAN lysine (K)-specific methyltransferase 2A 1493.0 anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634) AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270) TCAGGCTACAAAGGTACAAAA 0.468 0 81.0 68.0 72.0 11 118359473.0 2200.0 4296.0 6496.0 SO:0001583 missense L04284 CCDS31686.1, CCDS55791.1 11q23 2014-09-17 2013-05-09 2013-05-09 ENSG00000118058 ENSG00000118058 4297.0 4297.0 """Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type""" 7132.0 protein-coding gene gene with protein product 159555 """myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)""" MLL 1720549 Standard NM_005933 NM_001197104 Approved TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A Q03164 OTTHUMG00000166337 ENST00000534358.1:c.4477A>G 11.__UNKNOWN__:g.118359473A>G ENSP00000436786:p.Lys1493Glu E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3 __UNKNOWN__ CCDS55791.1 . . . . . . . . . . A 19.13 3.768186 0.69878 . . ENSG00000118058 ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873 D;D;D;D 0.86769 -2.17;-2.17;-2.17;-2.17 5.73 5.73 0.89815 Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1); 0.000000 0.85682 D 0.000000 D 0.88160 0.6362 N 0.16037 0.36 0.80722 D 1 D;D 0.76494 0.992;0.999 D;D 0.83275 0.97;0.996 D 0.90344 0.4361 10 0.66056 D 0.02 . 16.3123 0.82883 1.0:0.0:0.0:0.0 . 1493;1493 E9PQG7;Q03164 .;MLL1_HUMAN E 1493;1493;1455;403;205 ENSP00000436786:K1493E;ENSP00000374157:K1493E;ENSP00000346516:K1455E;ENSP00000376612:K205E ENSP00000346516:K1455E K + 1 0 MLL 117864683 1.000000 0.71417 0.997000 0.53966 0.881000 0.50899 8.905000 0.92613 2.308000 0.77769 0.533000 0.62120 AAG KMT2A-001 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000389228.2 + ENST00000534358.1 Missense_Mutation SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML CCDC50 152137 ucsc.edu 37 3 191074911 191074911 + Silent SNP C C A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr3:191074911C>A ENST00000392455.3 + 2.0 682 c.84C>A c.(82-84)acC>acA p.T28T CCDC50_ENST00000392456.3_Silent_p.T28T NM_174908.3 NP_777568.1 Q8IVM0 CCD50_HUMAN coiled-coil domain containing 50 28.0 cytoplasm (GO:0005737) ubiquitin protein ligase binding (GO:0031625) endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1) 23.0 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) AGGACCACACCCTGGCTCACA 0.433 0 138.0 132.0 134.0 3 191074911.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AJ416916 CCDS33912.1, CCDS33913.1 3q28 2010-12-24 2005-12-23 ENSG00000152492 ENSG00000152492 152137.0 152137.0 18111.0 protein-coding gene gene with protein product 611051 """deafness, autosomal dominant 44""" C3orf6, DFNA44 16803894, 17503326 Standard NM_174908 NM_178335 Approved Ymer uc003fsv.3 Q8IVM0 OTTHUMG00000156177 ENST00000392455.3:c.84C>A 3.__UNKNOWN__:g.191074911C>A Q86VH7 __UNKNOWN__ CCDS33913.1 CCDC50-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000343315.1 + ENST00000392455.3 Silent SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML TRIM7 81786 ucsc.edu 37 5 180622167 180622167 + Silent SNP C C T rs148602621 byFrequency TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr5:180622167C>T ENST00000274773.7 - 7.0 1596 c.1535G>A c.(1534-1536)tGa>tAa p.*512* TRIM7_ENST00000393319.3_Silent_p.*330*|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000361809.3_Silent_p.*304*|TRIM7_ENST00000393315.1_Silent_p.*304*|TRIM7_ENST00000422067.2_Silent_p.*304* NM_203293.1 NP_976038.1 Q9C029 TRIM7_HUMAN tripartite motif containing 7 0.0 cytoplasm (GO:0005737)|nucleus (GO:0005634) zinc ion binding (GO:0008270) NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1) 17.0 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) CAGTGCCCCTCAAGGCCAGAT 0.637 Esophageal Squamous(128;2258 2308 35507 48647) 0 40.0 35.0 37.0 5 180622167.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF220032 CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1 5q35.3 2013-01-09 2011-01-25 ENSG00000146054 ENSG00000146054 81786.0 81786.0 """Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers""" 16278.0 protein-coding gene gene with protein product """glycogenin-interacting protein"", ""tripartite motif protein TRIM7""" 609315 """tripartite motif-containing 7""" 11331580 Standard NM_203296 NM_203294 Approved RNF90, GNIP uc003mmz.1 Q9C029 OTTHUMG00000130963 ENST00000274773.7:c.1535G>A 5.__UNKNOWN__:g.180622167C>T A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90 __UNKNOWN__ CCDS4462.1 TRIM7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253569.3 - ENST00000274773.7 Silent SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML ZNF565 147929 ucsc.edu 37 19 36685184 36685184 + Silent SNP C C A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr19:36685184C>A ENST00000392173.2 - 4.0 441 c.183G>T c.(181-183)ggG>ggT p.G61G ZNF565_ENST00000355114.5_Silent_p.G101G|ZNF565_ENST00000304116.5_Silent_p.G61G NM_001042474.1 NP_001035939.1 Q8N9K5 ZN565_HUMAN zinc finger protein 565 101.0 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) large_intestine(4)|lung(4)|ovary(1)|skin(2) 11.0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.206) AGGGCTCTTTCCCTTGCTCCA 0.512 0 87.0 69.0 75.0 19 36685184.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK094310 CCDS12491.1 19q13.12 2013-09-20 ENSG00000196357 ENSG00000196357 147929.0 147929.0 """Zinc fingers, C2H2-type"", ""-""" 26726.0 protein-coding gene gene with protein product 614275 Standard NM_152477 NM_001042474 Approved FLJ36991 uc002odn.3 Q8N9K5 OTTHUMG00000180508 ENST00000392173.2:c.183G>T 19.__UNKNOWN__:g.36685184C>A B3KQ35|Q6NUS2 __UNKNOWN__ CCDS12491.1 ZNF565-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451696.1 - ENST00000392173.2 Silent SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML C17orf70 80233 hgsc.bcm.edu 37 17 79507920 79507920 + Silent SNP G G T rs147650251 byFrequency TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 G G . . . . Unknown Untested Somatic . WXS none . Illumina HiSeq f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr17:79507920G>T ENST00000327787.8 - 9.0 2617 c.2571C>A c.(2569-2571)gcC>gcA p.A857A C17orf70_ENST00000425898.2_Silent_p.A506A|C17orf70_ENST00000537152.1_Silent_p.A706A Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 857.0 DNA repair (GO:0006281) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677) breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19.0 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) CACAGGAGCTGGCCTCATCCT 0.697 0 G 4,4360 0,4,2178 16.0 16.0 16.0 2571 0.8 0.0 17 dbSNP_134 16.0 10,8542 0,10,4266 no coding-synonymous C17orf70 NM_025161.5 0,14,6444 TT,TG,GG 0.1169,0.0917,0.1084 857/882 79507920.0 14,12902 2182.0 4276.0 6458.0 SO:0001819 synonymous_variant BC008883 CCDS32765.1, CCDS32765.2 17q25.3 2012-05-30 ENSG00000185504 ENSG00000185504 80233.0 80233.0 26171.0 protein-coding gene gene with protein product """Fanconi anemia-associated protein, 100kDa""" 611301 17396147 Standard NM_025161 NM_025161 Approved FLJ22175, FAAP100 uc002kaq.3 Q0VG06 OTTHUMG00000167764 ENST00000327787.8:c.2571C>A 17.__UNKNOWN__:g.79507920G>T A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8 __UNKNOWN__ CCDS32765.2 C17orf70-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000396170.1 - ENST00000327787.8 Silent SNP PCPG-TCGA-WB-A820-Normal-SM-5EMML TAB3 257397 broad.mit.edu 37 X 30873680 30873680 + Splice_Site SNP C C A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chrX:30873680C>A ENST00000378933.1 - 3.0 280 c.e3-1 TAB3_ENST00000288422.2_Splice_Site|TAB3_ENST00000378932.2_Splice_Site|TAB3_ENST00000378930.3_Splice_Site NM_152787.3 NP_690000.2 Q8N5C8 TAB3_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 3 activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27.0 TGTTGTTATTCTAGGGGAGAA 0.383 Pancreas(164;1598 1985 29022 43301 49529) 0 26.0 26.0 26.0 X 30873680.0 2174.0 4277.0 6451.0 SO:0001630 splice_region_variant AY331591 CCDS14226.1 Xp21.2 2010-02-05 2010-02-05 2010-02-05 ENSG00000157625 ENSG00000157625 257397.0 257397.0 30681.0 protein-coding gene gene with protein product """TAK1 binding protein 3""" 300480 """mitogen-activated protein kinase kinase kinase 7 interacting protein 3""" MAP3K7IP3 14633987, 14670075 Standard NM_152787 XM_005274482 Approved uc004dcj.3 Q8N5C8 OTTHUMG00000021329 ENST00000378933.1:c.103-1G>T X.__UNKNOWN__:g.30873680C>A A6NDD9|Q6VQR0 __UNKNOWN__ CCDS14226.1 . . . . . . . . . . C 16.16 3.044097 0.55110 . . ENSG00000157625 ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932 . . . 5.44 5.44 0.79542 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 18.5384 0.91019 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . TAB3 30783601 1.000000 0.71417 0.996000 0.52242 0.988000 0.76386 7.445000 0.80570 2.407000 0.81776 0.600000 0.82982 . TAB3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056173.1 Intron - ENST00000378933.1 Splice_Site SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG GALNTL6 442117 broad.mit.edu 37 4 173942682 173942682 + Missense_Mutation SNP G G A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr4:173942682G>A ENST00000506823.1 + 12.0 2201 c.1544G>A c.(1543-1545)cGg>cAg p.R515Q GALNTL6_ENST00000508122.1_Missense_Mutation_p.R498Q NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN polypeptide N-acetylgalactosaminyltransferase-like 6 515.0 Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}. protein glycosylation (GO:0006486) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) p.?(1) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45.0 CTGCATACCCGGAAATTCTGC 0.483 1 Unknown(1) breast(1) 158.0 147.0 151.0 4 173942682.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS34104.1 4q34.1 2014-03-13 2014-03-13 ENSG00000174473 ENSG00000174473 442117.0 442117.0 """Glycosyltransferase family 2 domain containing""" 33844.0 protein-coding gene gene with protein product """polypeptide GalNAc transferase-like 6""" 615138 """UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6""" Standard NM_001034845 NM_001034845 Approved GALNT17, GalNAc-T6L uc003isv.3 Q49A17 OTTHUMG00000160807 ENST00000506823.1:c.1544G>A 4.__UNKNOWN__:g.173942682G>A ENSP00000423313:p.Arg515Gln Q2L4S6 __UNKNOWN__ CCDS34104.1 . . . . . . . . . . G 16.09 3.023883 0.54683 . . ENSG00000174473 ENST00000506823;ENST00000508122 T;T 0.76839 -1.05;-1.05 5.81 5.81 0.92471 Ricin B-related lectin (1);Ricin B lectin (3); 0.198625 0.35096 N 0.003452 D 0.82609 0.5074 M 0.78637 2.42 0.50467 D 0.999875 P 0.52170 0.951 P 0.47075 0.536 T 0.81024 -0.1120 10 0.30078 T 0.28 . 20.0817 0.97778 0.0:0.0:1.0:0.0 . 515 Q49A17 GLTL6_HUMAN Q 515;498 ENSP00000423313:R515Q;ENSP00000423827:R498Q ENSP00000423313:R515Q R + 2 0 GALNTL6 174179257 0.998000 0.40836 0.801000 0.32222 0.038000 0.13279 3.555000 0.53727 2.743000 0.94032 0.650000 0.86243 CGG GALNTL6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000362395.1 + ENST00000506823.1 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG PER3 8863 broad.mit.edu 37 1 7886649 7886649 + Silent SNP G G A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr1:7886649G>A ENST00000377532.3 + 16.0 2291 c.2067G>A c.(2065-2067)gcG>gcA p.A689A RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000361923.2_Silent_p.A681A P56645 PER3_HUMAN period circadian clock 3 681.0 CSNK1E binding domain. {ECO:0000250}. circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) signal transducer activity (GO:0004871) breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39.0 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TTCTGTCAGCGCACACCCAGA 0.507 0 62.0 56.0 58.0 1 7886649.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC026102 CCDS89.1, CCDS72695.1 1p36.23 2012-12-13 2012-12-13 ENSG00000049246 ENSG00000049246 8863.0 8863.0 8847.0 protein-coding gene gene with protein product 603427 """period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)""" 9427249 Standard NM_016831 XM_005263520 Approved uc001aoo.3 P56645 OTTHUMG00000001216 ENST00000377532.3:c.2067G>A 1.__UNKNOWN__:g.7886649G>A Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8 __UNKNOWN__ PER3-001 NOVEL basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000003606.1 + ENST00000377532.3 Silent SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG GPATCH8 23131 broad.mit.edu 37 17 42501775 42501775 + Missense_Mutation SNP T T C TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr17:42501775T>C ENST00000591680.1 - 6.0 464 c.434A>G c.(433-435)tAt>tGt p.Y145C GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000434000.1_Missense_Mutation_p.Y67C NM_001002909.2 NP_001002909.1 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 145.0 metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50.0 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) ATGTTTCTGATATTGCTTATC 0.393 0 157.0 144.0 149.0 17 42501775.0 2203.0 4300.0 6503.0 SO:0001583 missense AB011125 CCDS32666.1 17q21.31 2013-01-28 2006-08-22 2006-12-13 ENSG00000186566 ENSG00000186566 23131.0 23131.0 """G patch domain containing""" 29066.0 protein-coding gene gene with protein product 614396 """KIAA0553""" KIAA0553, GPATC8 9628581 Standard NM_001002909 NM_001002909 Approved uc002igw.2 Q9UKJ3 OTTHUMG00000181818 ENST00000591680.1:c.434A>G 17.__UNKNOWN__:g.42501775T>C ENSP00000467556:p.Tyr145Cys B9EGP9|O60300|Q8TB99 __UNKNOWN__ CCDS32666.1 . . . . . . . . . . T 18.53 3.643521 0.67244 . . ENSG00000186566 ENST00000335500;ENST00000434000 T 0.46063 0.88 5.44 5.44 0.79542 Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);Zinc finger, C2H2 (2); 0.000000 0.85682 D 0.000000 T 0.67841 0.2936 M 0.84219 2.685 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.73678 -0.3907 10 0.87932 D 0 -11.8289 15.5078 0.75753 0.0:0.0:0.0:1.0 . 145 Q9UKJ3 GPTC8_HUMAN C 145;67 ENSP00000395016:Y67C ENSP00000335486:Y145C Y - 2 0 GPATCH8 39857301 1.000000 0.71417 0.998000 0.56505 0.992000 0.81027 8.040000 0.89188 2.069000 0.61940 0.533000 0.62120 TAT GPATCH8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457797.1 - ENST00000591680.1 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG PRAMEF13 400736 broad.mit.edu 37 1 13448307 13448307 + Missense_Mutation SNP A A G TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr1:13448307A>G ENST00000376132.3 - 4.0 1270 c.1168T>C c.(1168-1170)Tct>Cct p.S390P NM_001024661.1 NP_001019832.1 Q5VWM6 PRA13_HUMAN PRAME family member 13 390.0 negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284) breast(1)|large_intestine(1)|lung(3)|skin(2) 7.0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCACCCATAGACATACAATTT 0.557 0 64.0 62.0 63.0 1 13448307.0 2203.0 4296.0 6499.0 SO:0001583 missense 1p36.21 2013-01-17 ENSG00000204495 400736.0 """-""" 13262.0 protein-coding gene gene with protein product Standard XM_375688 NG_005159 Approved OTTHUMG00000008034 uc010obi.1 Q5VWM6 OTTHUMG00000008034 ENST00000376132.3:c.1168T>C 1.__UNKNOWN__:g.13448307A>G ENSP00000365302:p.Ser390Pro __UNKNOWN__ CCDS41257.1 . . . . . . . . . . A 9.984 1.228910 0.22542 . . ENSG00000204495 ENST00000376132 T 0.12255 2.7 1.2 -0.0985 0.13628 . 0.067349 0.64402 N 0.000012 T 0.34279 0.0892 M 0.90019 3.08 0.09310 N 1 D;D 0.69078 0.965;0.997 P;D 0.75484 0.819;0.986 T 0.13442 -1.0509 10 0.87932 D 0 . 3.2594 0.06844 0.6288:0.0:0.0:0.3712 . 390;390 Q5VWM6;A6NFR9 PRA13_HUMAN;. P 390 ENSP00000365302:S390P ENSP00000365302:S390P S - 1 0 PRAMEF13 13320894 0.137000 0.22531 0.001000 0.08648 0.001000 0.01503 1.247000 0.32815 -0.056000 0.13221 -1.060000 0.02296 TCT PRAMEF13-001 KNOWN not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000022040.1 - ENST00000376132.3 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG EPAS1 2034 broad.mit.edu 37 2 46607400 46607400 + Missense_Mutation SNP C C T TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr2:46607400C>T ENST00000263734.3 + 12.0 2099 c.1589C>T c.(1588-1590)gCa>gTa p.A530V NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 530.0 NTAD. angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601) cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134) 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) 39.0 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) GAGACACTGGCACCCTATATC 0.592 0 86.0 94.0 91.0 2 46607400.0 2203.0 4300.0 6503.0 SO:0001583 missense U81984 CCDS1825.1 2p21-p16 2013-05-21 ENSG00000116016 ENSG00000116016 2034.0 2034.0 """Basic helix-loop-helix proteins""" 3374.0 protein-coding gene gene with protein product """HIF-1 alpha-like factor""" 603349 9000051, 9079689, 18378852 Standard NM_001430 NM_001430 Approved MOP2, PASD2, HIF2A, HLF, bHLHe73 uc002ruv.3 Q99814 OTTHUMG00000128818 ENST00000263734.3:c.1589C>T 2.__UNKNOWN__:g.46607400C>T ENSP00000263734:p.Ala530Val Q86VA2|Q99630 __UNKNOWN__ CCDS1825.1 . . . . . . . . . . C 35 5.420544 0.96111 . . ENSG00000116016 ENST00000263734 D 0.98150 -4.75 5.06 5.06 0.68205 . 0.000000 0.85682 D 0.000000 D 0.98532 0.9510 M 0.70595 2.14 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.99873 1.1099 10 0.87932 D 0 . 18.4411 0.90666 0.0:1.0:0.0:0.0 . 530 Q99814 EPAS1_HUMAN V 530 ENSP00000263734:A530V ENSP00000263734:A530V A + 2 0 EPAS1 46460904 1.000000 0.71417 0.996000 0.52242 0.982000 0.71751 7.814000 0.86154 2.361000 0.80049 0.491000 0.48974 GCA EPAS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250752.2 + ENST00000263734.3 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG C20orf96 140680 broad.mit.edu 37 20 257758 257758 + Missense_Mutation SNP C C T TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr20:257758C>T ENST00000360321.2 - 8.0 890 c.752G>A c.(751-753)cGc>cAc p.R251H C20orf96_ENST00000382369.5_Missense_Mutation_p.R216H|C20orf96_ENST00000400269.3_Missense_Mutation_p.R193H NM_080571.1|NM_153269.2 NP_542138.1|NP_695001.2 Q9NUD7 CT096_HUMAN chromosome 20 open reading frame 96 251.0 endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12.0 all_cancers(10;0.00959)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.149) GACCTTTCTGCGCATCTCACC 0.557 0 131.0 146.0 141.0 20 257758.0 2203.0 4300.0 6503.0 SO:0001583 missense AL034548 CCDS12994.1, CCDS74685.1 20p13 2012-10-30 ENSG00000196476 ENSG00000196476 140680.0 140680.0 16227.0 protein-coding gene gene with protein product Standard NM_153269 NM_153269 Approved dJ1103G7.2 uc002wde.2 Q9NUD7 OTTHUMG00000031626 ENST00000360321.2:c.752G>A 20.__UNKNOWN__:g.257758C>T ENSP00000353470:p.Arg251His A3KPE0|B2RPH9|Q8N840|Q8NAX5 __UNKNOWN__ CCDS12994.1 . . . . . . . . . . C 15.32 2.799420 0.50208 . . ENSG00000196476 ENST00000382369;ENST00000360321;ENST00000400269 T;T;T 0.48201 0.82;0.82;0.82 4.95 4.0 0.46444 . 0.623460 0.15923 N 0.238013 T 0.58722 0.2142 L 0.55481 1.735 0.22754 N 0.998773 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.69824 0.938;0.938;0.966;0.938 T 0.45891 -0.9230 10 0.30854 T 0.27 -13.7279 9.0336 0.36273 0.0:0.8965:0.0:0.1034 . 193;216;251;216 F5GZA9;B7Z971;Q9NUD7;Q5JYC3 .;.;CT096_HUMAN;. H 216;251;193 ENSP00000371806:R216H;ENSP00000353470:R251H;ENSP00000383128:R193H ENSP00000353470:R251H R - 2 0 C20orf96 205758 0.914000 0.31030 0.461000 0.27105 0.633000 0.38033 2.163000 0.42377 1.084000 0.41184 0.313000 0.20887 CGC C20orf96-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077439.2 - ENST00000360321.2 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG FBXW12 285231 broad.mit.edu 37 3 48419816 48419816 + Missense_Mutation SNP A A G TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr3:48419816A>G ENST00000436231.1 + 3.0 165 FBXW12_ENST00000445170.1_Missense_Mutation_p.I120V|FBXW12_ENST00000415155.1_Intron|FBXW12_ENST00000296438.5_Missense_Mutation_p.I139V Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16.0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGTACCATGATCTGGTCAAG 0.458 0 103.0 86.0 92.0 3 48419816.0 2203.0 4300.0 6503.0 SO:0001627 intron_variant AK097594, AY247969 CCDS2764.1, CCDS54577.1, CCDS54578.1 3p21.31 2011-07-01 2007-02-08 2004-07-21 ENSG00000164049 ENSG00000164049 285231.0 285231.0 """F-boxes / WD-40 domains"", ""WD repeat domain containing""" 20729.0 protein-coding gene gene with protein product 609075 """F-box only protein 35"", ""F-box and WD-40 domain protein 12""" FBXO35 15040455 Standard NM_207102 NM_207102 Approved Fbw12 uc010hjv.3 Q6X9E4 OTTHUMG00000133530 ENST00000436231.1:c.0-57A>G 3.__UNKNOWN__:g.48419816A>G E9PG36|Q494Y9|Q494Z0 __UNKNOWN__ . . . . . . . . . . A 11.96 1.794205 0.31777 . . ENSG00000164049 ENST00000296438;ENST00000445170 T;T 0.28454 1.61;1.61 4.61 -1.14 0.09741 WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1); 0.684620 0.14171 N 0.336704 T 0.19248 0.0462 L 0.46157 1.445 0.09310 N 1 B;B 0.26002 0.123;0.139 B;B 0.25759 0.063;0.043 T 0.20174 -1.0283 10 0.25106 T 0.35 -23.44 2.0721 0.03616 0.4486:0.3113:0.0896:0.1505 . 120;139 E9PG36;Q6X9E4 .;FBW12_HUMAN V 139;120 ENSP00000296438:I139V;ENSP00000406139:I120V ENSP00000296438:I139V I + 1 0 FBXW12 48394820 0.826000 0.29277 0.011000 0.14972 0.013000 0.08279 1.200000 0.32247 -0.246000 0.09611 -0.327000 0.08410 ATC FBXW12-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000344439.2 + ENST00000436231.1 Intron SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG PARN 5073 broad.mit.edu 37 16 14676088 14676088 + Missense_Mutation SNP T T C TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr16:14676088T>C ENST00000437198.2 - 17.0 1283 c.1142A>G c.(1141-1143)tAc>tGc p.Y381C PARN_ENST00000420015.2_Missense_Mutation_p.Y335C|PARN_ENST00000539279.1_Missense_Mutation_p.Y206C|PARN_ENST00000341484.7_Missense_Mutation_p.Y320C NM_001134477.2|NM_002582.3 NP_001127949.1|NP_002573.1 O95453 PARN_HUMAN poly(A)-specific ribonuclease 381.0 female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901) cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1) 21.0 GTAGGCATCGTAGCCTGCCTC 0.448 0 224.0 218.0 220.0 16 14676088.0 2001.0 4171.0 6172.0 SO:0001583 missense AJ005698 CCDS45419.1, CCDS45420.1, CCDS58425.1 16p13 2014-08-08 2011-07-07 ENSG00000140694 ENSG00000140694 5073.0 5073.0 3.1.13.4 8609.0 protein-coding gene gene with protein product """deadenylation nuclease""" 604212 """poly(A)-specific ribonuclease (deadenylation nuclease)""" 10640832 Standard NM_002582 NM_002582 Approved DAN uc010uzd.2 O95453 OTTHUMG00000173199 ENST00000437198.2:c.1142A>G 16.__UNKNOWN__:g.14676088T>C ENSP00000387911:p.Tyr381Cys B2RCB3|B4DDG8|B4DWR4|B4E1H6 __UNKNOWN__ CCDS45419.1 . . . . . . . . . . T 23.1 4.369447 0.82463 . . ENSG00000140694 ENST00000437198;ENST00000341484;ENST00000420015;ENST00000539279 T;T;T;T 0.25414 1.8;1.8;1.8;1.8 5.81 5.81 0.92471 Ribonuclease H-like (1); 0.000000 0.85682 D 0.000000 T 0.57227 0.2039 M 0.86502 2.82 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 T 0.64976 -0.6280 10 0.87932 D 0 -16.6233 15.002 0.71479 0.0:0.0:0.0:1.0 . 206;335;381 B4DSB0;B4DWR4;O95453 .;.;PARN_HUMAN C 381;320;335;206 ENSP00000387911:Y381C;ENSP00000345456:Y320C;ENSP00000410525:Y335C;ENSP00000444381:Y206C ENSP00000345456:Y320C Y - 2 0 PARN 14583589 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 7.722000 0.84778 2.210000 0.71456 0.533000 0.62120 TAC PARN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000422383.1 - ENST00000437198.2 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG S1PR1 1901 broad.mit.edu 37 1 101705533 101705533 + Silent SNP C C T TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr1:101705533C>T ENST00000305352.6 + 2.0 1368 c.993C>T c.(991-993)tgC>tgT p.C331C NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 331.0 actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226) endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036) p.C331C(1) NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43.0 GCTGCAAGTGCCCGAGCGGAG 0.562 1 Substitution - coding silent(1) urinary_tract(1) 130.0 135.0 133.0 1 101705533.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant M31210 CCDS777.1 1p21 2012-08-08 2008-04-30 2008-04-30 ENSG00000170989 ENSG00000170989 1901.0 1901.0 """GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules""" 3165.0 protein-coding gene gene with protein product 601974 """endothelial differentiation, sphingolipid G-protein-coupled receptor, 1""" EDG1 2160972, 9488656 Standard NM_001400 NM_001400 Approved edg-1, D1S3362, CD363 uc001dud.2 P21453 OTTHUMG00000010835 ENST00000305352.6:c.993C>T 1.__UNKNOWN__:g.101705533C>T D3DT66|Q9BYY4|Q9NYN8 __UNKNOWN__ CCDS777.1 S1PR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000029908.1 + ENST00000305352.6 Silent SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG MYH9 4627 broad.mit.edu 37 22 36690155 36690155 + Missense_Mutation SNP T T C TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr22:36690155T>C ENST00000216181.5 - 28.0 4050 c.3820A>G c.(3820-3822)Aag>Gag p.K1274E NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1274.0 actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796) actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931) actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803) 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) 86.0 TTGGTGACCTTGTCGGCCAGC 0.657 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated Dom yes 22 22q13.1 4627.0 """myosin, heavy polypeptide 9, non-muscle""" yes L 0 67.0 64.0 65.0 22 36690155.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA CCDS13927.1 22q13.1 2014-09-17 2006-09-29 ENSG00000100345 ENSG00000100345 4627.0 4627.0 """Myosins / Myosin superfamily : Class II""" 7579.0 protein-coding gene gene with protein product """nonmuscle myosin heavy chain II-A""" 160775 """myosin, heavy polypeptide 9, non-muscle""" DFNA17 1860190, 11023810 Standard NM_002473 NM_002473 Approved NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS uc003apg.3 P35579 OTTHUMG00000030429 ENST00000216181.5:c.3820A>G 22.__UNKNOWN__:g.36690155T>C ENSP00000216181:p.Lys1274Glu A8K6E4|O60805|Q60FE2|Q86T83 __UNKNOWN__ CCDS13927.1 . . . . . . . . . . T 20.4 3.987273 0.74589 . . ENSG00000100345 ENST00000216181 T 0.79247 -1.25 4.98 4.98 0.66077 Myosin tail (1); 0.102350 0.64402 D 0.000004 D 0.83464 0.5260 M 0.73962 2.25 0.80722 D 1 B 0.20780 0.048 B 0.41088 0.347 D 0.83669 0.0165 10 0.87932 D 0 . 14.978 0.71289 0.0:0.0:0.0:1.0 . 1274 P35579 MYH9_HUMAN E 1274 ENSP00000216181:K1274E ENSP00000216181:K1274E K - 1 0 MYH9 35020101 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 4.948000 0.63590 1.988000 0.58038 0.459000 0.35465 AAG MYH9-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000259110.3 - ENST00000216181.5 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG DNAH5 1767 broad.mit.edu 37 5 13721122 13721122 + Missense_Mutation SNP T T C TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr5:13721122T>C ENST00000265104.4 - 71.0 12370 c.12266A>G c.(12265-12267)cAg>cGg p.Q4089R NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4089.0 AAA 6. {ECO:0000250}. cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986) axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) 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) 378.0 Lung NSC(4;0.00476) CGCCATGGTCTGCTGCAAGAG 0.428 Kartagener syndrome 0 75.0 78.0 77.0 5 13721122.0 2203.0 4300.0 6503.0 SO:0001583 missense Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome AJ132090 CCDS3882.1 5p15.2 2008-07-18 2006-09-04 ENSG00000039139 ENSG00000039139 1767.0 1767.0 """Axonemal dyneins""" 2950.0 protein-coding gene gene with protein product """dynein heavy chain 5""" 603335 """dynein, axonemal, heavy polypeptide 5""" 9256245, 11788826 Standard NM_001369 NM_001369 Approved Dnahc5, HL1, PCD, CILD3, KTGNR uc003jfd.2 Q8TE73 OTTHUMG00000090533 ENST00000265104.4:c.12266A>G 5.__UNKNOWN__:g.13721122T>C ENSP00000265104:p.Gln4089Arg Q92860|Q96L74|Q9H5S7|Q9HCG9 __UNKNOWN__ CCDS3882.1 . . . . . . . . . . T 8.118 0.780367 0.16120 . . ENSG00000039139 ENST00000265104 T 0.08546 3.08 5.18 5.18 0.71444 Dynein heavy chain (1); 0.057945 0.64402 D 0.000001 T 0.10594 0.0259 L 0.46947 1.48 0.46298 D 0.998978 B 0.15473 0.013 B 0.28784 0.094 T 0.14727 -1.0462 10 0.17832 T 0.49 . 15.3168 0.74085 0.0:0.0:0.0:1.0 . 4089 Q8TE73 DYH5_HUMAN R 4089 ENSP00000265104:Q4089R ENSP00000265104:Q4089R Q - 2 0 DNAH5 13774122 1.000000 0.71417 1.000000 0.80357 0.385000 0.30292 4.777000 0.62361 2.075000 0.62263 0.455000 0.32223 CAG DNAH5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207057.2 - ENST00000265104.4 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG DFNA5 1687 broad.mit.edu 37 7 24784270 24784270 + Silent SNP G G A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr7:24784270G>A ENST00000342947.3 - 3.0 740 c.315C>T c.(313-315)ggC>ggT p.G105G DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.G105G NM_004403.2 NP_004394.1 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 105.0 apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19.0 CGCGGCTGCTGCCCCCCAGGT 0.557 GBM(78;184 1250 20134 20900 23600) 0 87.0 79.0 82.0 7 24784270.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF007790 CCDS5389.1, CCDS47563.1 7p15 2011-07-01 ENSG00000105928 ENSG00000105928 1687.0 1687.0 2810.0 protein-coding gene gene with protein product 608798 8589696, 9450185 Standard NM_004403 NM_004403 Approved ICERE-1 uc010kus.1 O60443 OTTHUMG00000023237 ENST00000342947.3:c.315C>T 7.__UNKNOWN__:g.24784270G>A A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3 __UNKNOWN__ CCDS5389.1 DFNA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214060.2 - ENST00000342947.3 Silent SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG SLC10A5 347051 broad.mit.edu 37 8 82606174 82606174 + Missense_Mutation SNP G G A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr8:82606174G>A ENST00000518568.1 - 1.0 2235 c.1034C>T c.(1033-1035)gCt>gTt p.A345V NM_001010893.2 NP_001010893.1 Q5PT55 NTCP5_HUMAN solute carrier family 10, member 5 345.0 integral component of membrane (GO:0016021) bile acid:sodium symporter activity (GO:0008508) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15.0 CAAACCCAAAGCAGGAACTAA 0.368 0 66.0 66.0 66.0 8 82606174.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS34915.1 8q21.13 2013-07-18 2013-07-18 ENSG00000253598 ENSG00000253598 347051.0 347051.0 """Solute carriers""" 22981.0 protein-coding gene gene with protein product Standard XM_294493 NM_001010893 Approved uc011lfs.2 Q5PT55 OTTHUMG00000164683 ENST00000518568.1:c.1034C>T 8.__UNKNOWN__:g.82606174G>A ENSP00000428612:p.Ala345Val B2RN26 __UNKNOWN__ CCDS34915.1 . . . . . . . . . . G 8.456 0.854185 0.17106 . . ENSG00000253598 ENST00000518568 T 0.07908 3.15 5.51 -0.00473 0.14020 . 1.312740 0.05213 N 0.507090 T 0.04952 0.0133 N 0.10972 0.075 0.09310 N 1 B 0.06786 0.001 B 0.04013 0.001 T 0.44065 -0.9352 10 0.14656 T 0.56 -0.0284 9.5015 0.39019 0.5412:0.0:0.4588:0.0 . 345 Q5PT55 NTCP5_HUMAN V 345 ENSP00000428612:A345V ENSP00000428612:A345V A - 2 0 SLC10A5 82768729 0.000000 0.05858 0.401000 0.26359 0.998000 0.95712 0.381000 0.20619 0.004000 0.14682 0.591000 0.81541 GCT SLC10A5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000379736.1 - ENST00000518568.1 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG GBA3 57733 broad.mit.edu 37 4 22729264 22729264 + RNA SNP G G A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr4:22729264G>A ENST00000503442.1 + 0.0 149 GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA NM_001128432.2 NP_001121904.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665) cytosol (GO:0005829) beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042) breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33.0 TTTGGACAGTGGTGAGTTATC 0.403 0 170.0 175.0 174.0 4 22729264.0 2203.0 4300.0 6503.0 AB017913 4p15.2 2013-05-09 2013-05-09 ENSG00000249948 ENSG00000249948 57733.0 57733.0 3.2.1.21 19069.0 protein-coding gene gene with protein product """klotho-related protein""" 606619 """glucosidase, beta, acid 3 (cytosolic)""" 11389701 Standard NM_020973 Approved GLUC, KLrP uc031sdv.1 Q9H227 OTTHUMG00000160448 ENST00000503442.1: 4.__UNKNOWN__:g.22729264G>A Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6 __UNKNOWN__ GBA3-003 KNOWN basic polymorphic_pseudogene polymorphic_pseudogene OTTHUMT00000360620.2 + ENST00000503442.1 RNA SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG XCL2 6846 broad.mit.edu 37 1 168510202 168510202 + Silent SNP G G A rs149372418 byFrequency TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr1:168510202G>A ENST00000367819.2 - 3.0 365 c.333C>T c.(331-333)acC>acT p.T111T NM_003175.3 NP_003166.1 Q9UBD3 XCL2_HUMAN chemokine (C motif) ligand 2 111.0 blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165) extracellular region (GO:0005576)|extracellular space (GO:0005615) chemokine activity (GO:0008009) p.T111T(1) large_intestine(1)|lung(6)|ovary(1) 8.0 all_hematologic(923;0.215) AGCCAGTCAGGGTCACAGCTG 0.498 1 Substitution - coding silent(1) lung(1) G 1,4405 0,1,2202 299.0 234.0 256.0 333 1.4 0.2 1 dbSNP_134 256.0 2,8598 2.2+/-6.3 0,2,4298 no coding-synonymous XCL2 NM_003175.3 0,3,6500 AA,AG,GG 0.0233,0.0227,0.0231 111/115 168510202.0 3,13003 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BC070309 CCDS1273.1 1q24.2 2013-02-28 2002-08-22 2002-08-23 ENSG00000143185 ENSG00000143185 6846.0 6846.0 """Endogenous ligands""" 10646.0 protein-coding gene gene with protein product 604828 """small inducible cytokine subfamily C, member 2""" SCYC2 7875320 Standard NM_003175 NM_003175 Approved SCM-1b uc001gfn.4 Q9UBD3 OTTHUMG00000034549 ENST00000367819.2:c.333C>T 1.__UNKNOWN__:g.168510202G>A __UNKNOWN__ CCDS1273.1 XCL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000083613.1 - ENST00000367819.2 Silent SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG AC004702.2 0 broad.mit.edu 37 17 20224859 20224859 + RNA SNP G G A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr17:20224859G>A ENST00000580225.1 + 0.0 105 CCDC144CP_ENST00000340196.4_RNA CACGATGTCCGCCTGGAAGAT 0.642 0 ENST00000580225.1: 17.__UNKNOWN__:g.20224859G>A __UNKNOWN__ . . . . . . . . . . . 3.520 -0.097871 0.07010 . . ENSG00000154898 ENST00000340196;ENST00000425519 . . . 0.364 0.364 0.16124 . . . . . T 0.45276 0.1334 . . . 0.23855 N 0.996652 . . . . . . T 0.55250 -0.8170 3 0.41790 T 0.15 . . . . . . . . H 77 . ENSP00000343605:R77H R + 2 0 CCDC144C 20165451 0.122000 0.22280 0.006000 0.13384 0.006000 0.05464 0.830000 0.27462 0.406000 0.25560 0.407000 0.27541 CGC AC004702.2-001 KNOWN basic lincRNA lincRNA OTTHUMT00000448285.1 + ENST00000580225.1 lincRNA SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG CEP192 55125 broad.mit.edu 37 18 13116474 13116474 + Missense_Mutation SNP T T C TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr18:13116474T>C ENST00000506447.1 + 43.0 7468 c.7388T>C c.(7387-7389)cTg>cCg p.L2463P CEP192_ENST00000430049.2_Missense_Mutation_p.L1988P|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Missense_Mutation_p.L1867P NM_032142.3 NP_115518.3 Q8TEP8 CE192_HUMAN centrosomal protein 192kDa 1867.0 centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829) phosphatase binding (GO:0019902) 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) 71.0 AAAGTCAATCTGCGAAATAAT 0.413 0 89.0 83.0 85.0 18 13116474.0 2203.0 4300.0 6503.0 SO:0001583 missense AK074074 CCDS32792.1, CCDS32792.2 18p11.21 2014-02-20 ENSG00000101639 55125.0 55125.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 25515.0 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 62""" 11230166, 14654843 Standard NM_032142 NM_032142 Approved KIAA1569, FLJ10352, PPP1R62 uc010xac.2 Q8TEP8 ENST00000506447.1:c.7388T>C 18.__UNKNOWN__:g.13116474T>C ENSP00000427550:p.Leu2463Pro A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27 __UNKNOWN__ CCDS32792.2 . . . . . . . . . . T 18.71 3.682374 0.68157 . . ENSG00000101639 ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847 T;T;T 0.08720 3.06;3.07;3.07 4.98 4.98 0.66077 . 0.172755 0.40908 D 0.000999 T 0.28001 0.0690 M 0.71581 2.175 0.80722 D 1 D;D;D;D 0.89917 0.999;0.999;0.996;1.0 D;D;D;D 0.76071 0.952;0.977;0.939;0.987 T 0.01670 -1.1299 10 0.87932 D 0 -8.2332 14.6136 0.68531 0.0:0.0:0.0:1.0 . 1988;2463;467;1066 C9JT09;E9PF99;F5GZ47;Q9HCK3 .;.;.;. P 2463;1867;1867;1988;467 ENSP00000427550:L2463P;ENSP00000317156:L1867P;ENSP00000389190:L1988P ENSP00000317156:L1867P L + 2 0 CEP192 13106474 1.000000 0.71417 0.984000 0.44739 0.623000 0.37688 5.249000 0.65427 2.009000 0.58944 0.383000 0.25322 CTG CEP192-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000361790.1 + ENST00000506447.1 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG GNE 10020 broad.mit.edu 37 9 36249220 36249220 + Missense_Mutation SNP C C T TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr9:36249220C>T ENST00000447283.2 - 2.0 183 c.133G>A c.(133-135)Gta>Ata p.V45I GNE_ENST00000396594.3_Missense_Mutation_p.V76I|GNE_ENST00000377902.5_Missense_Mutation_p.V45I|GNE_ENST00000543356.2_Intron|GNE_ENST00000539208.1_Intron|GNE_ENST00000539815.1_Missense_Mutation_p.V45I Q9Y223 GLCNE_HUMAN glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 45.0 carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047) cytoplasm (GO:0005737)|cytosol (GO:0005829) ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761) endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 19.0 STAD - Stomach adenocarcinoma(86;0.228) GAGCCAAGTACCACAACATCA 0.413 GBM(184;106 2118 20004 35750 50727) 0 163.0 136.0 145.0 9 36249220.0 2203.0 4300.0 6503.0 SO:0001583 missense AF051852 CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1 9p13.1 2008-02-05 2003-12-01 ENSG00000159921 ENSG00000159921 10020.0 10020.0 23657.0 protein-coding gene gene with protein product 603824 """UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase""" IBM2 9305887, 9305888 Standard NM_005476 NM_005476 Approved Uae1 uc010mli.3 Q9Y223 OTTHUMG00000019899 ENST00000447283.2:c.133G>A 9.__UNKNOWN__:g.36249220C>T ENSP00000414760:p.Val45Ile A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94 __UNKNOWN__ CCDS55309.1 . . . . . . . . . . C 24.0 4.486396 0.84854 . . ENSG00000159921 ENST00000377902;ENST00000396594;ENST00000539815;ENST00000447283 D;D;D;D 0.99143 -5.48;-5.48;-5.48;-5.48 5.36 4.45 0.53987 . 0.000000 0.85682 D 0.000000 D 0.98953 0.9644 M 0.79475 2.455 0.53005 D 0.999967 P;D;B 0.61080 0.865;0.989;0.076 P;D;B 0.64321 0.618;0.924;0.085 D 0.98333 1.0534 10 0.62326 D 0.03 -15.2167 11.4116 0.49929 0.0:0.9123:0.0:0.0876 . 76;45;45 Q9Y223-2;Q9Y223;A7UNU7 .;GLCNE_HUMAN;. I 45;76;45;45 ENSP00000367134:V45I;ENSP00000379839:V76I;ENSP00000439155:V45I;ENSP00000414760:V45I ENSP00000367134:V45I V - 1 0 GNE 36239220 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 5.466000 0.66731 2.684000 0.91462 0.561000 0.74099 GTA GNE-005 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000401511.1 - ENST00000447283.2 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG AZIN1 0 broad.mit.edu 37 8 103855864 103855864 + Missense_Mutation SNP T T G TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr8:103855864T>G ENST00000337198.5 - 3.0 1180 c.17A>C c.(16-18)gAt>gCt p.D6A AZIN1_ENST00000347770.4_Missense_Mutation_p.D6A|AZIN1_ENST00000522311.1_5'UTR NM_148174.2 NP_680479.1 O14977 AZIN1_HUMAN antizyme inhibitor 1 6.0 cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|nucleus (GO:0005634) catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1) 9.0 Lung NSC(17;0.000143)|all_lung(17;0.000294) OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414) GTTTGCATCATCAATAAATCC 0.423 0 152.0 137.0 142.0 8 103855864.0 2203.0 4300.0 6503.0 SO:0001583 missense AAC25391 CCDS6295.1 8p22-q21.3 2005-03-21 2005-03-21 2005-03-21 ENSG00000155096 51582.0 16432.0 protein-coding gene gene with protein product """ornithine decarboxylase 1-like""" 607909 """ornithine decarboxylase antizyme inhibitor""" OAZIN 9349715, 9110174 Standard XM_005250969 Approved OAZI, ODC1L uc003yky.3 O14977 ENST00000337198.5:c.17A>C 8.__UNKNOWN__:g.103855864T>G ENSP00000337180:p.Asp6Ala A6NCD5|Q6IBQ7|Q96D20 __UNKNOWN__ CCDS6295.1 . . . . . . . . . . T 20.4 3.983056 0.74474 . . ENSG00000155096 ENST00000337198;ENST00000347770;ENST00000520402;ENST00000518353 T;T 0.43688 0.94;0.94 6.07 6.07 0.98685 . 0.143965 0.64402 D 0.000008 T 0.40956 0.1138 L 0.48642 1.525 0.54753 D 0.999989 B 0.18968 0.032 B 0.26094 0.066 T 0.16012 -1.0417 10 0.27082 T 0.32 -13.0333 16.6407 0.85098 0.0:0.0:0.0:1.0 . 6 O14977 AZIN1_HUMAN A 6 ENSP00000337180:D6A;ENSP00000321507:D6A ENSP00000337180:D6A D - 2 0 AZIN1 103925040 1.000000 0.71417 0.999000 0.59377 0.988000 0.76386 7.698000 0.84413 2.326000 0.78906 0.533000 0.62120 GAT AZIN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000380133.1 - ENST00000337198.5 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG PIGS 94005 broad.mit.edu 37 17 26882066 26882066 + Missense_Mutation SNP T T C TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr17:26882066T>C ENST00000308360.7 - 11.0 1570 c.1195A>G c.(1195-1197)Att>Gtt p.I399V PIGS_ENST00000543734.1_Missense_Mutation_p.I338V|PIGS_ENST00000395346.2_Missense_Mutation_p.I391V NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 399.0 attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687) endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020) GPI-anchor transamidase activity (GO:0003923) breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16.0 Lung NSC(42;0.00431) GGCTGAGCAATCCCAAAGAGC 0.542 0 50.0 46.0 47.0 17 26882066.0 2203.0 4300.0 6503.0 SO:0001583 missense CCDS11235.1 17p13.2 2013-02-26 2006-06-28 ENSG00000087111 ENSG00000087111 94005.0 94005.0 """Phosphatidylinositol glycan anchor biosynthesis""" 14937.0 protein-coding gene gene with protein product """GPI transamidase subunit""" 610271 """phosphatidylinositol glycan, class S""" Standard NM_033198 NM_033198 Approved uc002hbo.2 Q96S52 OTTHUMG00000132604 ENST00000308360.7:c.1195A>G 17.__UNKNOWN__:g.26882066T>C ENSP00000309430:p.Ile399Val Q6UVX6 __UNKNOWN__ CCDS11235.1 . . . . . . . . . . T 11.68 1.710999 0.30322 . . ENSG00000087111 ENST00000395346;ENST00000308360;ENST00000543734 T;T;T 0.43294 0.95;0.95;0.95 5.42 5.42 0.78866 . 0.110954 0.64402 D 0.000005 T 0.30510 0.0767 L 0.32530 0.975 0.42244 D 0.991947 B;B 0.30406 0.278;0.235 B;B 0.31390 0.129;0.079 T 0.15378 -1.0439 10 0.34782 T 0.22 -10.616 7.8497 0.29446 0.0:0.0731:0.1396:0.7874 . 399;391 Q96S52;Q96S52-2 PIGS_HUMAN;. V 391;399;338 ENSP00000378755:I391V;ENSP00000309430:I399V;ENSP00000438447:I338V ENSP00000309430:I399V I - 1 0 PIGS 23906193 1.000000 0.71417 1.000000 0.80357 0.902000 0.53008 2.294000 0.43567 2.053000 0.61076 0.379000 0.24179 ATT PIGS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255833.3 - ENST00000308360.7 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG LSM14B 149986 broad.mit.edu 37 20 60701439 60701439 + Missense_Mutation SNP G G T TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr20:60701439G>T ENST00000279068.6 + 3.0 531 c.371G>T c.(370-372)gGc>gTc p.G124V LSM14B_ENST00000253001.4_Missense_Mutation_p.G124V|LSM14B_ENST00000370915.1_Missense_Mutation_p.G124V NM_144703.2 NP_653304.2 Q9BX40 LS14B_HUMAN LSM14B, SCD6 homolog B (S. cerevisiae) 124.0 multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417) ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822) endometrium(3)|kidney(1)|lung(4) 8.0 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) GCGCCCTACGGCCCGCTGGCG 0.627 0 43.0 45.0 44.0 20 60701439.0 2035.0 4174.0 6209.0 SO:0001583 missense AF172328 CCDS46626.1 20q13.33 2010-01-27 2006-12-21 2006-01-24 ENSG00000149657 ENSG00000149657 149986.0 149986.0 15887.0 protein-coding gene gene with protein product """chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)""" C20orf40, FAM61B Standard NM_144703 NM_144703 Approved FT005, bA11M20.3, FLJ25473, LSM13, RAP55B uc010gjy.1 Q9BX40 OTTHUMG00000032901 ENST00000279068.6:c.371G>T 20.__UNKNOWN__:g.60701439G>T ENSP00000279068:p.Gly124Val Q6PFW8|Q96LH8 __UNKNOWN__ CCDS46626.1 . . . . . . . . . . G 15.17 2.752917 0.49362 . . ENSG00000149657 ENST00000370915;ENST00000279068;ENST00000253001;ENST00000444156;ENST00000400318;ENST00000279069;ENST00000370906;ENST00000361670 T;T;T;T 0.48522 0.91;0.83;0.81;0.88 5.42 3.09 0.35607 . 0.166091 0.64402 D 0.000003 T 0.29684 0.0741 N 0.08118 0 0.58432 D 0.999999 B;P;B;B;P 0.39216 0.177;0.664;0.026;0.418;0.573 B;B;B;B;B 0.39419 0.049;0.299;0.008;0.157;0.143 T 0.30650 -0.9971 10 0.56958 D 0.05 . 13.2551 0.60074 0.1525:0.0:0.8475:0.0 . 5;5;124;150;124 E9PG81;C9J454;Q9BX40;Q5TBQ0;Q9BX40-2 .;.;LS14B_HUMAN;.;. V 124;124;124;5;150;124;5;5 ENSP00000279068:G124V;ENSP00000253001:G124V;ENSP00000383172:G150V;ENSP00000355209:G5V ENSP00000253001:G124V G + 2 0 LSM14B 60134834 1.000000 0.71417 1.000000 0.80357 0.931000 0.56810 4.233000 0.58651 1.268000 0.44264 0.511000 0.50034 GGC LSM14B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079996.4 + ENST00000279068.6 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG PCLO 27445 broad.mit.edu 37 7 82389988 82389988 + Silent SNP T T C TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr7:82389988T>C ENST00000333891.9 - 24.0 15592 c.15255A>G c.(15253-15255)cgA>cgG p.R5085R NM_033026.5 NP_149015.2 piccolo presynaptic cytomatrix protein 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) 259.0 TTAGACTGAATCGAAAAGTTT 0.318 0 133.0 131.0 132.0 7 82389988.0 1828.0 4070.0 5898.0 SO:0001819 synonymous_variant AB011131 CCDS47630.1, CCDS47631.1 7q11.23-q21.3 2013-01-07 2013-01-07 ENSG00000186472 ENSG00000186472 27445.0 27445.0 13406.0 protein-coding gene gene with protein product """aczonin""" 604918 """piccolo (presynaptic cytomatrix protein)""" 8900486, 9628581 Standard NM_014510 NM_014510 Approved KIAA0559, DKFZp779G1236, ACZ uc003uhx.2 Q9Y6V0 OTTHUMG00000154853 ENST00000333891.9:c.15255A>G 7.__UNKNOWN__:g.82389988T>C __UNKNOWN__ CCDS47630.1 PCLO-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337368.5 - ENST00000333891.9 Silent SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG CNTN3 5067 broad.mit.edu 37 3 74383970 74383970 + Silent SNP C C A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr3:74383970C>A ENST00000263665.6 - 12.0 1611 c.1584G>T c.(1582-1584)ctG>ctT p.L528L NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 528.0 Ig-like C2-type 6. cell adhesion (GO:0007155)|nervous system development (GO:0007399) anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886) 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) 83.0 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) TGATGTCTAACAGCGGGTCAT 0.438 0 122.0 115.0 117.0 3 74383970.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AB040929 CCDS33790.1 3p12.3 2013-02-11 ENSG00000113805 ENSG00000113805 5067.0 5067.0 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 2173.0 protein-coding gene gene with protein product 601325 PANG 8661054, 8586965 Standard NM_020872 XM_005264757 Approved BIG-1 uc003dpm.1 Q9P232 OTTHUMG00000158813 ENST00000263665.6:c.1584G>T 3.__UNKNOWN__:g.74383970C>A B9EK50|Q9H039 __UNKNOWN__ CCDS33790.1 CNTN3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352306.1 - ENST00000263665.6 Silent SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG MAATS1 89876 broad.mit.edu 37 3 119451227 119451227 + Missense_Mutation SNP T T G TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr3:119451227T>G ENST00000273390.5 + 9.0 1182 c.1105T>G c.(1105-1107)Tca>Gca p.S369A NM_033364.3 NP_203528 Q7Z4T9 MAAT1_HUMAN MYCBP-associated, testis expressed 1 532.0 mitochondrion (GO:0005739) TGATTATGCATCACAGGTCTA 0.368 0 69.0 73.0 71.0 3 119451227.0 2203.0 4300.0 6503.0 SO:0001583 missense AB063296 CCDS2994.1 3q12-q13.3 2014-07-31 2012-12-07 2012-09-26 ENSG00000183833 ENSG00000183833 89876.0 89876.0 24010.0 protein-coding gene gene with protein product """AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26""" 609910 """chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1""" C3orf15 12223483, 14551891, 17967944 Standard NM_033364 NM_033364 Approved AAT1, AAT1alpha, SPATA26, CaM-IP2 uc003ede.4 Q7Z4T9 OTTHUMG00000159422 ENST00000273390.5:c.1105T>G 3.__UNKNOWN__:g.119451227T>G ENSP00000273390:p.Ser369Ala A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8 __UNKNOWN__ CCDS2994.1 . . . . . . . . . . T 21.0 4.078487 0.76528 . . ENSG00000183833 ENST00000273390 T 0.39997 1.05 5.66 5.66 0.87406 . 0.079870 0.56097 D 0.000038 T 0.69735 0.3144 M 0.87758 2.905 0.80722 D 1 D;D;D;D 0.89917 1.0;0.999;0.999;0.998 D;D;D;D 0.85130 0.997;0.957;0.979;0.944 T 0.75863 -0.3167 10 0.72032 D 0.01 5.7114 15.9078 0.79445 0.0:0.0:0.0:1.0 . 130;307;369;369 Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7 .;.;.;. A 369 ENSP00000273390:S369A ENSP00000273390:S369A S + 1 0 C3orf15 120933917 1.000000 0.71417 1.000000 0.80357 0.968000 0.65278 3.971000 0.56831 2.144000 0.66660 0.460000 0.39030 TCA MAATS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355222.1 + ENST00000273390.5 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG TAF4 6874 broad.mit.edu 37 20 60581703 60581703 + Missense_Mutation SNP C C T TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr20:60581703C>T ENST00000252996.4 - 7.0 2085 c.2086G>A c.(2086-2088)Gtg>Atg p.V696M NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 696.0 DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37.0 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) CTCAGCACCACGGCCGTGAGC 0.716 0 20.0 25.0 23.0 20 60581703.0 2200.0 4295.0 6495.0 SO:0001583 missense Y11354 CCDS33500.1 20q13.33 2010-02-26 2002-08-29 2002-01-18 ENSG00000130699 ENSG00000130699 6874.0 6874.0 11537.0 protein-coding gene gene with protein product 601796 """TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD""" TAF4A, TAF2C1, TAF2C 8942982, 9192867 Standard NM_003185 NM_003185 Approved TAFII130, TAFII135 uc002ybs.3 O00268 OTTHUMG00000032893 ENST00000252996.4:c.2086G>A 20.__UNKNOWN__:g.60581703C>T ENSP00000252996:p.Val696Met A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42 __UNKNOWN__ CCDS33500.1 . . . . . . . . . . C 26.4 4.734514 0.89482 . . ENSG00000130699 ENST00000252996;ENST00000436129 T;T 0.27557 1.66;1.67 5.46 5.46 0.80206 . 0.064962 0.64402 D 0.000011 T 0.52370 0.1730 L 0.50333 1.59 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 T 0.47711 -0.9096 10 0.49607 T 0.09 -19.8984 19.2974 0.94128 0.0:1.0:0.0:0.0 . 696 O00268 TAF4_HUMAN M 696;560 ENSP00000252996:V696M;ENSP00000399091:V560M ENSP00000252996:V696M V - 1 0 TAF4 60015098 1.000000 0.71417 0.993000 0.49108 0.876000 0.50452 5.251000 0.65438 2.550000 0.86006 0.563000 0.77884 GTG TAF4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079968.2 - ENST00000252996.4 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG CYTH2 9266 broad.mit.edu 37 19 48976617 48976617 + Missense_Mutation SNP A A G TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr19:48976617A>G ENST00000452733.2 + 5.0 892 c.416A>G c.(415-417)aAt>aGt p.N139S CYTH2_ENST00000427476.1_Missense_Mutation_p.N139S Q99418 CYH2_HUMAN cytohesin 2 139.0 SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}. actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155) cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886) ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289) endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15.0 ACCGACCTCAATCTGGTGCAG 0.517 0 103.0 85.0 91.0 19 48976617.0 2203.0 4300.0 6503.0 SO:0001583 missense X99753 CCDS12722.1 19q13.32 2014-05-02 2008-08-14 2008-08-14 ENSG00000105443 ENSG00000105443 9266.0 9266.0 """Pleckstrin homology (PH) domain containing""" 9502.0 protein-coding gene gene with protein product 602488 """pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)"", ""pleckstrin homology, Sec7 and coiled-coil domains 2""" PSCD2L, PSCD2 8706128, 8945478, 20525696 Standard NM_004228 NM_004228 Approved CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2 uc002pjj.4 Q99418 OTTHUMG00000150245 ENST00000452733.2:c.416A>G 19.__UNKNOWN__:g.48976617A>G ENSP00000408236:p.Asn139Ser A8K8P0|Q8IXY9|Q92958 __UNKNOWN__ CCDS12722.1 . . . . . . . . . . A 18.34 3.603038 0.66445 . . ENSG00000105443 ENST00000452733;ENST00000427476;ENST00000325139 T;T;T 0.51071 0.72;0.72;0.72 4.39 4.39 0.52855 . 0.000000 0.85682 D 0.000000 T 0.33381 0.0861 N 0.25647 0.755 0.58432 D 0.999993 B 0.19935 0.04 B 0.16289 0.015 T 0.11542 -1.0583 10 0.30078 T 0.28 . 11.8884 0.52615 1.0:0.0:0.0:0.0 . 139 Q99418-2 . S 139;139;161 ENSP00000408236:N139S;ENSP00000391648:N139S;ENSP00000314566:N161S ENSP00000314566:N161S N + 2 0 CYTH2 53668429 1.000000 0.71417 0.977000 0.42913 0.996000 0.88848 8.882000 0.92420 1.978000 0.57642 0.379000 0.24179 AAT CYTH2-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000317060.1 + ENST00000452733.2 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG RAI1 10743 broad.mit.edu 37 17 17699978 17699978 + Missense_Mutation SNP T T G TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr17:17699978T>G ENST00000353383.1 + 3.0 4185 c.3716T>G c.(3715-3717)cTg>cGg p.L1239R RAI1_ENST00000261641.6_Missense_Mutation_p.L1239R NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1239.0 circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501) cytoplasm (GO:0005737)|nucleus (GO:0005634) enhancer binding (GO:0035326)|zinc ion binding (GO:0008270) 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) 48.0 READ - Rectum adenocarcinoma(1115;0.0276) AAGCGGAACCTGGTCTTGCGG 0.642 0 28.0 32.0 31.0 17 17699978.0 2203.0 4299.0 6502.0 SO:0001583 missense AJ230819 CCDS11188.1 17p11.2 2011-02-08 ENSG00000108557 ENSG00000108557 10743.0 10743.0 9834.0 protein-coding gene gene with protein product 607642 """Smith-Magenis syndrome chromosome region""" SMCR 10036180 Standard NM_030665 NM_030665 Approved DKFZP434A139, SMS, KIAA1820, MGC12824 uc002grm.3 Q7Z5J4 OTTHUMG00000059314 ENST00000353383.1:c.3716T>G 17.__UNKNOWN__:g.17699978T>G ENSP00000323074:p.Leu1239Arg Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69 __UNKNOWN__ CCDS11188.1 . . . . . . . . . . T 14.45 2.538995 0.45176 . . ENSG00000108557 ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321 T;T 0.67698 -0.28;0.33 4.18 3.1 0.35709 . 0.000000 0.40302 N 0.001138 T 0.75236 0.3822 L 0.60455 1.87 0.36895 D 0.890086 D 0.71674 0.998 D 0.85130 0.997 T 0.76035 -0.3106 10 0.45353 T 0.12 . 9.1723 0.37089 0.0:0.088:0.0:0.912 . 1239 Q7Z5J4 RAI1_HUMAN R 1239;1239;1239;1191 ENSP00000323074:L1239R;ENSP00000261641:L1239R ENSP00000261641:L1239R L + 2 0 RAI1 17640703 0.828000 0.29307 0.577000 0.28562 0.936000 0.57629 1.520000 0.35899 0.500000 0.27991 0.260000 0.18958 CTG RAI1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000131775.1 + ENST00000353383.1 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG ERC2 26059 broad.mit.edu 37 3 56468448 56468448 + Missense_Mutation SNP C C G TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr3:56468448C>G ENST00000288221.6 - 2.0 843 c.588G>C c.(586-588)ttG>ttC p.L196F NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 196.0 cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734) breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31.0 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CTTCTTTCCTCAAGACTCTCT 0.458 0 135.0 130.0 132.0 3 56468448.0 1918.0 4124.0 6042.0 SO:0001583 missense AB002376 CCDS46851.1 3p14.3 2006-08-14 ENSG00000187672 ENSG00000187672 26059.0 26059.0 31922.0 protein-coding gene gene with protein product Standard NM_015576 NM_015576 Approved CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL uc003dhr.1 O15083 OTTHUMG00000158390 ENST00000288221.6:c.588G>C 3.__UNKNOWN__:g.56468448C>G ENSP00000288221:p.Leu196Phe Q2T9F6|Q86TK4 __UNKNOWN__ CCDS46851.1 . . . . . . . . . . C 16.13 3.035022 0.54896 . . ENSG00000187672 ENST00000288221 T 0.51325 0.71 5.77 3.97 0.46021 . 0.059273 0.64402 D 0.000002 T 0.47525 0.1450 M 0.75264 2.295 0.40776 D 0.983135 P 0.34587 0.458 B 0.31614 0.133 T 0.57745 -0.7758 10 0.87932 D 0 -5.6079 12.8477 0.57839 0.0:0.8661:0.0:0.1339 . 196 O15083 ERC2_HUMAN F 196 ENSP00000288221:L196F ENSP00000288221:L196F L - 3 2 ERC2 56443488 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 3.357000 0.52277 1.461000 0.47929 0.643000 0.83706 TTG ERC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350884.2 - ENST00000288221.6 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG PID1 55022 broad.mit.edu 37 2 229890554 229890554 + Missense_Mutation SNP C C A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr2:229890554C>A ENST00000392055.3 - 3.0 689 c.448G>T c.(448-450)Gtc>Ttc p.V150F PID1_ENST00000354069.6_Missense_Mutation_p.V183F|PID1_ENST00000409462.1_Missense_Mutation_p.V101F|PID1_ENST00000392054.3_Missense_Mutation_p.V181F|PID1_ENST00000482518.2_Intron NM_001100818.1 NP_001094288.1 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 183.0 PID. {ECO:0000255|PROSITE- ProRule:PRU00148}. cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377) cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26.0 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) TCCCTGTAGACCCAGGCGAAG 0.602 0 153.0 135.0 141.0 2 229890554.0 2203.0 4300.0 6503.0 SO:0001583 missense AK096636 CCDS2471.1, CCDS42830.1 2q36.3 2007-02-02 ENSG00000153823 ENSG00000153823 55022.0 55022.0 26084.0 protein-coding gene gene with protein product 612930 17124247, 16815647, 15221005 Standard NM_017933 NM_001100818 Approved NYGGF4, FLJ20701 uc002vps.4 Q7Z2X4 OTTHUMG00000133191 ENST00000392055.3:c.448G>T 2.__UNKNOWN__:g.229890554C>A ENSP00000375908:p.Val150Phe B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6 __UNKNOWN__ CCDS42830.1 . . . . . . . . . . C 16.55 3.154026 0.57259 . . ENSG00000153823 ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069 . . . 6.07 5.2 0.72013 Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1); 0.107189 0.64402 D 0.000005 T 0.56187 0.1968 L 0.43152 1.355 0.53688 D 0.99997 P;P;P;P 0.49783 0.926;0.815;0.928;0.884 B;B;P;P 0.47528 0.39;0.39;0.494;0.549 T 0.54977 -0.8212 8 . . . -30.4254 14.2764 0.66181 0.0:0.9295:0.0:0.0705 . 101;150;181;183 Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4 .;.;.;PCLI1_HUMAN F 181;101;150;183;183 . . V - 1 0 PID1 229598798 1.000000 0.71417 0.994000 0.49952 0.991000 0.79684 4.267000 0.58877 1.583000 0.49898 0.655000 0.94253 GTC PID1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256901.1 - ENST00000392055.3 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG OIT3 170392 broad.mit.edu 37 10 74673076 74673076 + Silent SNP G G A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr10:74673076G>A ENST00000334011.5 + 6.0 1019 c.801G>A c.(799-801)ttG>ttA p.L267L NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 267.0 ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}. nucleus (GO:0005634) calcium ion binding (GO:0005509) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35.0 Prostate(51;0.0198) TCCCTGTGTTGTGCAAATCAA 0.522 Colon(7;19 345 13446 17537) 0 207.0 205.0 206.0 10 74673076.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS7318.1 10q22.2-q22.3 2004-04-21 ENSG00000138315 ENSG00000138315 170392.0 170392.0 29953.0 protein-coding gene gene with protein product 609330 12975309, 12939600 Standard NM_152635 NM_152635 Approved LZP, FLJ39116 uc001jte.1 Q8WWZ8 OTTHUMG00000018444 ENST00000334011.5:c.801G>A 10.__UNKNOWN__:g.74673076G>A A0AVP3|Q8N1M8 __UNKNOWN__ CCDS7318.1 OIT3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048596.1 + ENST00000334011.5 Silent SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG PPP1R21 129285 broad.mit.edu 37 2 48701954 48701954 + Missense_Mutation SNP G G C TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr2:48701954G>C ENST00000294952.8 + 12.0 1378 c.1221G>C c.(1219-1221)ttG>ttC p.L407F PPP1R21_ENST00000449090.2_Missense_Mutation_p.L407F|PPP1R21_ENST00000281394.4_Missense_Mutation_p.L407F NM_001135629.2 NP_001129101.1 Q6ZMI0 PPR21_HUMAN protein phosphatase 1, regulatory subunit 21 407.0 membrane (GO:0016020) phosphatase binding (GO:0019902) endometrium(2)|kidney(4)|lung(9) 15.0 TTCTTGCCTTGCCAAGTAAGT 0.443 0 140.0 122.0 128.0 2 48701954.0 2203.0 4300.0 6503.0 SO:0001583 missense AY134855 CCDS1839.1, CCDS46278.1, CCDS54358.1 2p16.3 2012-04-17 2011-10-11 2011-10-11 ENSG00000162869 ENSG00000162869 129285.0 129285.0 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 30595.0 protein-coding gene gene with protein product """coiled-coil domain containing 128"", ""KLRAQ motif containing 1""" CCDC128, KLRAQ1 12477932 Standard NM_152994 NM_001135629 Approved FLJ16566 uc002rwm.3 Q6ZMI0 OTTHUMG00000129167 ENST00000294952.8:c.1221G>C 2.__UNKNOWN__:g.48701954G>C ENSP00000294952:p.Leu407Phe B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8 __UNKNOWN__ CCDS46278.1 . . . . . . . . . . G 18.31 3.596084 0.66332 . . ENSG00000162869 ENST00000281394;ENST00000294952;ENST00000449090 . . . 5.35 5.35 0.76521 . 0.000000 0.85682 D 0.000000 T 0.69269 0.3092 L 0.57536 1.79 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;0.999 D;D;D;D 0.80764 0.994;0.994;0.989;0.961 T 0.70464 -0.4864 9 0.56958 D 0.05 -7.2209 9.4318 0.38615 0.1645:0.0:0.8355:0.0 . 407;407;407;407 E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3 .;PPR21_HUMAN;.;. F 407 . ENSP00000281394:L407F L + 3 2 KLRAQ1 48555458 1.000000 0.71417 1.000000 0.80357 0.975000 0.68041 5.599000 0.67592 2.510000 0.84645 0.650000 0.86243 TTG PPP1R21-009 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251238.4 + ENST00000294952.8 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG IRF7 3665 bcgsc.ca 37 11 614014 614014 + Missense_Mutation SNP G G C TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr11:614014G>C ENST00000330243.5 - 6.0 1128 c.742C>G c.(742-744)Ctg>Gtg p.L248V IRF7_ENST00000397574.2_Missense_Mutation_p.L235V|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000348655.6_Intron|IRF7_ENST00000397566.1_Missense_Mutation_p.L248V|IRF7_ENST00000397570.1_Intron|IRF7_ENST00000525445.1_Missense_Mutation_p.L129V Q92985 IRF7_HUMAN interferon regulatory factor 7 235.0 cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979) endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8.0 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CACCCGTACAGCTCCCCAGCA 0.682 0 11.0 13.0 12.0 11 614014.0 2191.0 4291.0 6482.0 SO:0001583 missense U53830 CCDS7703.1, CCDS7704.1, CCDS7705.1 11p15.5 2005-10-10 ENSG00000185507 ENSG00000185507 3665.0 3665.0 6122.0 protein-coding gene gene with protein product 605047 Standard NM_001572 XM_005252906 Approved uc001lqh.3 Q92985 OTTHUMG00000132019 ENST00000330243.5:c.742C>G 11.__UNKNOWN__:g.614014G>C ENSP00000329411:p.Leu248Val B9EGL3|O00331|O00332|O00333|O75924|Q9UE79 __UNKNOWN__ CCDS7705.1 . . . . . . . . . . G 8.107 0.777856 0.16120 . . ENSG00000185507 ENST00000525445;ENST00000397566;ENST00000397574;ENST00000330243 D;D;D;D 0.96265 -3.0;-3.93;-3.96;-3.93 2.64 -0.396 0.12427 . 825.344000 0.00166 N 0.000000 D 0.89294 0.6674 N 0.14661 0.345 0.20489 N 0.999897 B;B;B 0.25312 0.01;0.01;0.123 B;B;B 0.15484 0.006;0.006;0.013 D 0.83695 0.0179 10 0.10902 T 0.67 1.4531 3.4445 0.07476 0.3878:0.2026:0.4096:0.0 . 129;235;248 E9PSE3;Q92985;Q92985-4 .;IRF7_HUMAN;. V 129;248;235;248 ENSP00000434009:L129V;ENSP00000380697:L248V;ENSP00000380704:L235V;ENSP00000329411:L248V ENSP00000329411:L248V L - 1 2 IRF7 604014 0.000000 0.05858 0.000000 0.03702 0.065000 0.16274 0.248000 0.18198 -0.078000 0.12730 -0.339000 0.08088 CTG IRF7-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000255025.1 - ENST00000330243.5 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG Unknown 0 bcgsc.ca 37 14 65068101 65068101 + RNA SNP A A T TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 A - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr14:65068101A>T RP11-973N13.3 (4847 upstream) : PLEKHG3 (103052 downstream) TCCATTCGACAGTCCTTCCAA 0.512 0 SO:0001628 intergenic_variant 14.__UNKNOWN__:g.65068101A>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG Unknown 0 bcgsc.ca 37 1 67744347 67744347 + RNA SNP C C A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 C - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr1:67744347C>A RNU4ATAC4P (10938 upstream) : IL12RB2 (28699 downstream) AGAAAAATCACGATAAAGAGA 0.383 0 SO:0001628 intergenic_variant 1.__UNKNOWN__:g.67744347C>A __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG POLR3H 171568 ucsc.edu 37 22 41925330 41925330 + Missense_Mutation SNP C C A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 C C Unknown Untested Somatic WXS none Illumina HiSeq 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr22:41925330C>A ENST00000355209.4 - 6.0 915 c.572G>T c.(571-573)aGt>aTt p.S191I POLR3H_ENST00000407461.1_Missense_Mutation_p.S191I|POLR3H_ENST00000337566.5_Missense_Mutation_p.S162I|POLR3H_ENST00000396504.2_Missense_Mutation_p.S191I NM_001018050.2 NP_001018060.1 Q9Y535 RPC8_HUMAN polymerase (RNA) III (DNA directed) polypeptide H (22.9kD) 191.0 defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384) centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899) breast(1)|lung(5)|skin(1)|urinary_tract(1) 8.0 GCCTGGCTCACTGATGGATCC 0.612 0 69.0 64.0 66.0 22 41925330.0 2203.0 4300.0 6503.0 SO:0001583 missense AB051452 CCDS14018.1, CCDS33651.1 22q13 2013-01-21 ENSG00000100413 ENSG00000100413 171568.0 171568.0 """RNA polymerase subunits""" 30349.0 protein-coding gene gene with protein product 11258795, 12391170 Standard NM_138338 XR_244356 Approved RPC8, KIAA1665 uc003baf.3 Q9Y535 OTTHUMG00000150971 ENST00000355209.4:c.572G>T 22.__UNKNOWN__:g.41925330C>A ENSP00000347345:p.Ser191Ile B0QYH9|Q5M7Y8|Q96AE3|Q9BY95 __UNKNOWN__ CCDS14018.1 . . . . . . . . . . C 19.13 3.766938 0.69878 . . ENSG00000100413 ENST00000396504;ENST00000355209;ENST00000337566;ENST00000407461 . . . 6.08 5.04 0.67666 Nucleic acid-binding, OB-fold-like (1);RNA polymerase III, subunit Rpc25 (1); 0.139643 0.64402 D 0.000004 T 0.65923 0.2738 M 0.69248 2.105 0.80722 D 1 B;B 0.09022 0.002;0.0 B;B 0.15052 0.012;0.005 T 0.62586 -0.6823 9 0.37606 T 0.19 . 15.6914 0.77457 0.1379:0.8621:0.0:0.0 . 162;191 Q9Y535-2;Q9Y535 .;RPC8_HUMAN I 191;191;162;191 . ENSP00000337627:S162I S - 2 0 POLR3H 40255276 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 4.633000 0.61318 1.543000 0.49345 0.655000 0.94253 AGT POLR3H-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320701.1 - ENST00000355209.4 Missense_Mutation SNP PCPG-TCGA-WB-A821-Normal-SM-5EMMG CACNA2D3 55799 broad.mit.edu 37 3 55052296 55052296 + Missense_Mutation SNP G G A TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr3:55052296G>A ENST00000474759.1 + 35.0 2987 c.2939G>A c.(2938-2940)cGc>cAc p.R980H CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R886H|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R980H|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R980H NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 980.0 integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) 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) 59.0 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421) GTCTCTGAGCGCACCATCAAG 0.483 0 86.0 84.0 85.0 3 55052296.0 1946.0 4144.0 6090.0 SO:0001583 missense AJ272268 CCDS54598.1 3p21.1 2010-10-05 2008-02-26 ENSG00000157445 ENSG00000157445 55799.0 55799.0 """Calcium channel subunits""" 15460.0 protein-coding gene gene with protein product 606399 11245980 Standard XM_005265318 Approved HSA272268 uc003dhf.3 Q8IZS8 OTTHUMG00000158580 ENST00000474759.1:c.2939G>A 3.__UNKNOWN__:g.55052296G>A ENSP00000419101:p.Arg980His B2RPL6|Q9NY16|Q9NY18 __UNKNOWN__ CCDS54598.1 . . . . . . . . . . G 23.2 4.393397 0.83011 . . ENSG00000157445 ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624 T;T;T;T 0.54675 0.56;0.56;0.56;0.56 5.4 5.4 0.78164 . 0.000000 0.85682 D 0.000000 T 0.61362 0.2341 M 0.61703 1.905 0.46798 D 0.9992 D 0.61080 0.989 P 0.50708 0.648 T 0.63065 -0.6720 10 0.46703 T 0.11 . 17.3487 0.87316 0.0:0.0:1.0:0.0 . 980 Q8IZS8 CA2D3_HUMAN H 980;980;980;886;886 ENSP00000389506:R980H;ENSP00000419101:R980H;ENSP00000288197:R980H;ENSP00000417279:R886H ENSP00000288197:R980H R + 2 0 CACNA2D3 55027336 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 9.233000 0.95337 2.522000 0.85027 0.563000 0.77884 CGC CACNA2D3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351402.1 + ENST00000474759.1 Missense_Mutation SNP PCPG-TCGA-WB-A822-Normal-SM-5EMMA KLK13 26085 broad.mit.edu 37 19 51563781 51563781 + Nonsense_Mutation SNP G G A TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr19:51563781G>A ENST00000595793.1 - 2.0 190 c.148C>T c.(148-150)Cag>Tag p.Q50* KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Nonsense_Mutation_p.Q50*|KLK13_ENST00000596955.1_Nonsense_Mutation_p.Q50* NM_015596.1 NP_056411.1 Q9UKR3 KLK13_HUMAN kallikrein-related peptidase 13 50.0 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. protein processing (GO:0016485)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141) hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 16.0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) AGGGCAGCCTGCCAGGGCTGA 0.597 0 84.0 87.0 86.0 19 51563781.0 2203.0 4300.0 6503.0 SO:0001587 stop_gained CCDS12822.1 19q13.33 2008-02-05 2006-10-27 ENSG00000167759 26085.0 26085.0 """Kallikreins""" 6361.0 protein-coding gene gene with protein product 605505 """kallikrein 13""" 16800724, 16800723 Standard NM_015596 NM_015596 Approved KLK-L4 uc002pvn.3 Q9UKR3 ENST00000595793.1:c.148C>T 19.__UNKNOWN__:g.51563781G>A ENSP00000470555:p.Gln50* A7UNK6|Q86VI8|Q9Y433 __UNKNOWN__ CCDS12822.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. g|g 33|33 5.201413|5.201413 0.94997|0.94997 .|. .|. ENSG00000167759|ENSG00000167759 ENST00000376799|ENST00000156476 .|. .|. .|. 3.88|3.88 3.88|3.88 0.44766|0.44766 .|. .|0.000000 .|0.44902 .|D .|0.000402 T|. 0.73016|. 0.3533|. .|. .|. .|. 0.80722|0.80722 D|D 1|1 .|. .|. .|. .|. .|. .|. T|. 0.77536|. -0.2551|. 5|. 0.87932|0.87932 D|D 0|0 .|. 13.6889|13.6889 0.62533|0.62533 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. .|. .|. .|. V|X 51|50 .|. ENSP00000365995:A51V|ENSP00000156476:Q50X A|Q -|- 2|1 0|0 KLK13|KLK13 56255593|56255593 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.995000|0.995000 0.86356|0.86356 7.063000|7.063000 0.76714|0.76714 2.166000|2.166000 0.68216|0.68216 0.609000|0.609000 0.83330|0.83330 GCA|CAG KLK13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464298.2 - ENST00000595793.1 Nonsense_Mutation SNP PCPG-TCGA-WB-A822-Normal-SM-5EMMA IGHD 0 broad.mit.edu 37 14 106311819 106311819 + RNA SNP T T C TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr14:106311819T>C ENST00000390556.2 - 0.0 191 P01880 IGHD_HUMAN immunoglobulin heavy constant delta immune response (GO:0006955) blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) antigen binding (GO:0003823) CTGCTTGTCATGTAGTAGCTG 0.577 0 140.0 140.0 140.0 14 106311819.0 2191.0 4274.0 6465.0 K02875 14q32.33 2012-03-09 ENSG00000211898 ENSG00000211898 3495.0 3495.0 """Immunoglobulins / IGH locus""" 5480.0 other immunoglobulin gene """immunoglobulin delta"", ""constant region of heavy chain of IgD""" 147170 3922054 Standard NG_001019 NG_001019 Approved FLJ00382, FLJ46727, MGC29633 uc001ysj.3 P01880 OTTHUMG00000152538 ENST00000390556.2: 14.__UNKNOWN__:g.106311819T>C Q6P4I8|Q8WU38 __UNKNOWN__ IGHD-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal IG_C_gene IG_C_gene OTTHUMT00000326652.1 - ENST00000390556.2 RNA SNP PCPG-TCGA-WB-A822-Normal-SM-5EMMA SLCO1C1 53919 broad.mit.edu 37 12 20868177 20868177 + Silent SNP C C T TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr12:20868177C>T ENST00000266509.2 + 6.0 1002 c.634C>T c.(634-636)Ctg>Ttg p.L212L SLCO1C1_ENST00000545604.1_Silent_p.L212L|SLCO1C1_ENST00000545102.1_Silent_p.L94L|SLCO1C1_ENST00000381552.1_Silent_p.L212L|SLCO1C1_ENST00000540354.1_Intron NM_017435.4 NP_059131.1 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 212.0 sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) transporter activity (GO:0005215) 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) 60.0 Esophageal squamous(101;0.149) Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032) CATTGCCTACCTGGATGATTT 0.428 0 174.0 158.0 163.0 12 20868177.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AF260704 CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1 12p12.2 2013-05-22 2003-11-25 2003-11-26 ENSG00000139155 ENSG00000139155 53919.0 53919.0 """Solute carriers""" 13819.0 protein-coding gene gene with protein product 613389 """solute carrier family 21 (organic anion transporter), member 14""" SLC21A14 Standard NM_017435 NM_017435 Approved OATP-F, OATP1C1, OATP1 uc010sii.2 Q9NYB5 OTTHUMG00000168966 ENST00000266509.2:c.634C>T 12.__UNKNOWN__:g.20868177C>T B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4 __UNKNOWN__ CCDS8683.1 SLCO1C1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401765.1 + ENST00000266509.2 Silent SNP PCPG-TCGA-WB-A822-Normal-SM-5EMMA PXDN 7837 broad.mit.edu 37 2 1652159 1652159 + Silent SNP G G A TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr2:1652159G>A ENST00000252804.4 - 17.0 3443 c.3393C>T c.(3391-3393)ccC>ccT p.P1131P NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1131.0 extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114) endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601) 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) 112.0 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) GCAGCTGCGAGGGCACACGCA 0.627 0 42.0 51.0 48.0 2 1652159.0 2060.0 4214.0 6274.0 SO:0001819 synonymous_variant AF200348 CCDS46221.1 2p25.3 2013-01-11 ENSG00000130508 ENSG00000130508 7837.0 7837.0 """Immunoglobulin superfamily / I-set domain containing""" 14966.0 protein-coding gene gene with protein product 605158 10441517, 9039502 Standard XM_056455 XM_005264707 Approved KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN uc002qxa.3 Q92626 OTTHUMG00000059697 ENST00000252804.4:c.3393C>T 2.__UNKNOWN__:g.1652159G>A A8QM65|D6W4Y0|Q4KMG2 __UNKNOWN__ CCDS46221.1 PXDN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000322505.1 - ENST00000252804.4 Silent SNP PCPG-TCGA-WB-A822-Normal-SM-5EMMA MRPL38 64978 broad.mit.edu 37 17 73894960 73894960 + Missense_Mutation SNP T T G rs141165409 TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr17:73894960T>G ENST00000309352.3 - 9.0 1651 c.1114A>C c.(1114-1116)Agt>Cgt p.S372R MRPL38_ENST00000409963.3_Missense_Mutation_p.S188R|RP11-552F3.10_ENST00000587267.1_RNA NM_032478.3 NP_115867.2 Q96DV4 RM38_HUMAN mitochondrial ribosomal protein L38 372.0 mitochondrion (GO:0005739)|ribosome (GO:0005840) ovary(1)|pancreas(1)|prostate(2)|skin(1) 5.0 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCTCATGACTGTCCCTGTAC 0.607 0 42.0 33.0 36.0 17 73894960.0 2200.0 4299.0 6499.0 SO:0001583 missense AB051345 CCDS11733.2 17q23-q25 2012-09-13 ENSG00000204316 ENSG00000204316 64978.0 64978.0 """Mitochondrial ribosomal proteins / large subunits""" 14033.0 protein-coding gene gene with protein product 611844 11543634 Standard NM_032478 NM_032478 Approved RPML3, MRP-L3, HSPC262, MGC4810 uc010wso.1 Q96DV4 OTTHUMG00000152977 ENST00000309352.3:c.1114A>C 17.__UNKNOWN__:g.73894960T>G ENSP00000308275:p.Ser372Arg B3KN96|Q96Q66|Q9P0B9 __UNKNOWN__ CCDS11733.2 . . . . . . . . . . T 20.2 3.955291 0.73902 . . ENSG00000204316 ENST00000309352;ENST00000409963 T;T 0.21734 1.99;1.99 4.59 4.59 0.56863 . 0.230437 0.45361 D 0.000378 T 0.22589 0.0545 L 0.40543 1.245 0.37324 D 0.909686 D 0.56035 0.974 P 0.49140 0.601 T 0.07065 -1.0792 10 0.41790 T 0.15 -10.495 9.5375 0.39231 0.1569:0.0:0.0:0.8431 . 372 Q96DV4 RM38_HUMAN R 372;188 ENSP00000308275:S372R;ENSP00000387085:S188R ENSP00000308275:S372R S - 1 0 MRPL38 71406555 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 4.294000 0.59043 1.934000 0.56057 0.418000 0.28097 AGT MRPL38-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000328829.1 - ENST00000309352.3 Missense_Mutation SNP PCPG-TCGA-WB-A822-Normal-SM-5EMMA UNC79 57578 broad.mit.edu 37 14 94067098 94067098 + Missense_Mutation SNP G G A TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr14:94067098G>A ENST00000256339.4 + 25.0 3680 c.3025G>A c.(3025-3027)Gaa>Aaa p.E1009K UNC79_ENST00000393151.2_Missense_Mutation_p.E1186K|UNC79_ENST00000555664.1_Missense_Mutation_p.E1186K|UNC79_ENST00000553484.1_Missense_Mutation_p.E1186K NM_020818.3 NP_065869.3 Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1186.0 behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118.0 TTGTAACAAGGAATTTCCTTT 0.413 0 90.0 87.0 88.0 14 94067098.0 2203.0 4300.0 6503.0 SO:0001583 missense AB037830 CCDS9911.2 14q32.13 2011-08-18 2011-08-18 2011-08-18 ENSG00000133958 ENSG00000133958 57578.0 57578.0 19966.0 protein-coding gene gene with protein product """KIAA1409""" KIAA1409 20714347, 21040849 Standard XM_028395 NM_020818 Approved uc001ybs.1 Q9P2D8 OTTHUMG00000029783 ENST00000256339.4:c.3025G>A 14.__UNKNOWN__:g.94067098G>A ENSP00000256339:p.Glu1009Lys B5MDL6|Q6ZUT7 __UNKNOWN__ CCDS9911.2 . . . . . . . . . . G 27.7 4.855984 0.91355 . . ENSG00000133958 ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153 T;T;T;T 0.19532 2.15;2.15;2.14;2.15 6.07 6.07 0.98685 . 0.000000 0.85682 D 0.000000 T 0.38665 0.1049 L 0.29908 0.895 0.58432 D 0.999991 D 0.61697 0.99 D 0.72982 0.979 T 0.06917 -1.0800 10 0.72032 D 0.01 -19.3861 20.6593 0.99626 0.0:0.0:1.0:0.0 . 1186 C9JQL1 . K 1009;1186;1186;1186;1186 ENSP00000256339:E1009K;ENSP00000450868:E1186K;ENSP00000451360:E1186K;ENSP00000376858:E1186K ENSP00000256339:E1009K E + 1 0 KIAA1409 93136851 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 9.869000 0.99810 2.885000 0.99019 0.655000 0.94253 GAA UNC79-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000074288.2 + ENST00000256339.4 Missense_Mutation SNP PCPG-TCGA-WB-A822-Normal-SM-5EMMA KCNH3 23416 broad.mit.edu 37 12 49937738 49937740 + In_Frame_Del DEL GGG GGG - TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr12:49937738_49937740delGGG ENST00000257981.6 + 6.0 1124_1126 c.864_866delGGG c.(862-867)tcgggc>tcc p.G289del NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 289.0 potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249) NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36.0 TGTCCAAGTCGGGCCAGGTGGTG 0.596 0 SO:0001651 inframe_deletion AB022696 CCDS8786.1 12q13 2012-07-05 ENSG00000135519 23416.0 23416.0 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels""" 6252.0 protein-coding gene gene with protein product 604527 10455180, 16382104 Standard NM_012284 NM_012284 Approved Kv12.2, BEC1, elk2 uc001ruh.1 Q9ULD8 OTTHUMG00000169517 ENST00000257981.6:c.864_866delGGG 12.__UNKNOWN__:g.49937738_49937740delGGG ENSP00000257981:p.Gly289del Q9UQ06 __UNKNOWN__ CCDS8786.1 KCNH3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404571.2 + ENST00000257981.6 In_Frame_Del DEL PCPG-TCGA-WB-A822-Normal-SM-5EMMA ARHGEF26 26084 broad.mit.edu 37 3 153839931 153839931 + Frame_Shift_Del DEL T T - TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr3:153839931delT ENST00000356448.4 + 2.0 434 c.150delT c.(148-150)gatfs p.D50fs ARHGEF26_ENST00000465817.1_Frame_Shift_Del_p.D50fs|ARHGEF26_ENST00000465093.1_Frame_Shift_Del_p.D50fs NM_001251962.1 NP_001238891.1 Q96DR7 ARHGQ_HUMAN Rho guanine nucleotide exchange factor (GEF) 26 50.0 endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178) cell projection (GO:0042995) Rho guanyl-nucleotide exchange factor activity (GO:0005089) endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23.0 TAATTACGGATTTCCCGGTGG 0.662 GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013) 0 16.0 18.0 17.0 3 153839931.0 1903.0 4126.0 6029.0 SO:0001589 frameshift_variant BC016628 CCDS46938.1, CCDS58858.1 3q25.2 2013-01-10 ENSG00000114790 ENSG00000114790 26084.0 26084.0 """Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing""" 24490.0 protein-coding gene gene with protein product """Src homology 3 domain-containing guanine nucleotide exchange factor""" 15133129, 12697679 Standard NM_015595 NM_015595 Approved DKFZP434D146, SGEF uc021xgc.1 Q96DR7 OTTHUMG00000159098 ENST00000356448.4:c.150delT 3.__UNKNOWN__:g.153839931delT ENSP00000348828:p.Asp50fs B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5 __UNKNOWN__ CCDS46938.1 ARHGEF26-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353287.3 + ENST00000356448.4 Frame_Shift_Del DEL PCPG-TCGA-WB-A822-Normal-SM-5EMMA ARHGEF1 9138 ucsc.edu 37 19 42407871 42407871 + Missense_Mutation SNP T T C TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr19:42407871T>C ENST00000337665.4 + 20.0 1917 c.1897T>C c.(1897-1899)Tat>Cat p.Y633H ARHGEF1_ENST00000599846.1_Missense_Mutation_p.Y674H|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.Y600H|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.Y618H|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.Y585H NM_199002.1 NP_945353.1 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 618.0 cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886) GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37.0 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) GCTCAAGGACTATCAGCGGCG 0.607 0 80.0 69.0 73.0 19 42407871.0 2203.0 4300.0 6503.0 SO:0001583 missense U64105 CCDS12590.1, CCDS12591.1, CCDS12592.1 19q13.13 2014-06-19 ENSG00000076928 ENSG00000076928 9138.0 9138.0 """Rho guanine nucleotide exchange factors""" 681.0 protein-coding gene gene with protein product 601855 8810315, 9135076 Standard NM_199002 NM_004706 Approved P115-RHOGEF, SUB1.5, LBCL2 uc002osa.3 Q92888 OTTHUMG00000182679 ENST00000337665.4:c.1897T>C 19.__UNKNOWN__:g.42407871T>C ENSP00000337261:p.Tyr633His O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1 __UNKNOWN__ CCDS12590.1 . . . . . . . . . . T 19.96 3.923524 0.73213 . . ENSG00000076928 ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152 T;T;T;T 0.68765 -0.35;-0.35;-0.35;-0.35 4.09 4.09 0.47781 Dbl homology (DH) domain (1); 0.000000 0.64402 D 0.000003 T 0.79639 0.4480 M 0.76170 2.325 0.54753 D 0.999988 D;D;D;D 0.89917 1.0;1.0;1.0;0.999 D;D;D;D 0.97110 0.999;1.0;1.0;0.996 T 0.81883 -0.0728 10 0.87932 D 0 -9.5933 11.3793 0.49748 0.0:0.0:0.0:1.0 . 600;633;585;618 Q6NX52;Q92888-3;Q92888-2;Q92888 .;.;.;ARHG1_HUMAN H 618;585;633;600 ENSP00000346532:Y618H;ENSP00000344429:Y585H;ENSP00000337261:Y633H;ENSP00000367394:Y600H ENSP00000337261:Y633H Y + 1 0 ARHGEF1 47099711 1.000000 0.71417 1.000000 0.80357 0.863000 0.49368 7.614000 0.82996 1.628000 0.50416 0.374000 0.22700 TAT ARHGEF1-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000463366.1 + ENST00000337665.4 Missense_Mutation SNP PCPG-TCGA-WB-A822-Normal-SM-5EMMA KCNT1 57582 ucsc.edu 37 9 138657490 138657490 + Silent SNP G G A TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 G G Unknown Untested Somatic WXS none Illumina HiSeq 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr9:138657490G>A ENST00000371757.2 + 13.0 1288 c.1221G>A c.(1219-1221)ctG>ctA p.L407L KCNT1_ENST00000298480.5_Silent_p.L407L|KCNT1_ENST00000490355.2_Silent_p.L388L|KCNT1_ENST00000491806.2_Silent_p.L374L|KCNT1_ENST00000486577.2_Silent_p.L368L|KCNT1_ENST00000488444.2_Silent_p.L388L|KCNT1_ENST00000263604.3_Silent_p.L388L|KCNT1_ENST00000487664.1_Silent_p.L362L NM_020822.2 NP_065873.2 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 388.0 potassium ion transmembrane transport (GO:0071805) voltage-gated potassium channel complex (GO:0008076) calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249) 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) 50.0 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TGGTCATCCTGTGCCCCACGG 0.652 0 46.0 44.0 45.0 9 138657490.0 2197.0 4299.0 6496.0 SO:0001819 synonymous_variant AB037843 CCDS35175.1, CCDS35175.2, CCDS65188.1 9q34.3 2012-07-05 ENSG00000107147 ENSG00000107147 57582.0 57582.0 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated""" 18865.0 protein-coding gene gene with protein product 608167 10718198, 16382103 Standard NM_020822 NM_020822 Approved KCa4.1, KIAA1422 uc011mdq.2 Q5JUK3 OTTHUMG00000020917 ENST00000371757.2:c.1221G>A 9.__UNKNOWN__:g.138657490G>A B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5 __UNKNOWN__ CCDS35175.2 KCNT1-002 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000055021.2 + ENST00000371757.2 Silent SNP PCPG-TCGA-WB-A822-Normal-SM-5EMMA FCRL6 343413 broad.mit.edu 37 1 159778167 159778167 + Silent SNP T T C TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr1:159778167T>C ENST00000368106.3 + 3.0 253 c.252T>C c.(250-252)tcT>tcC p.S84S FCRL6_ENST00000392235.3_Silent_p.S84S|FCRL6_ENST00000339348.5_Silent_p.S84S|FCRL6_ENST00000321935.6_Silent_p.S91S NM_001004310.2 NP_001004310.2 Q6DN72 FCRL6_HUMAN Fc receptor-like 6 84.0 Ig-like C2-type 1. external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021) NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24.0 all_hematologic(112;0.0597) ACAGCTGCTCTGGGCAGGTGA 0.498 0 53.0 46.0 48.0 1 159778167.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK131201 CCDS30912.1, CCDS60312.1 1q23.2 2013-01-11 ENSG00000181036 ENSG00000181036 343413.0 343413.0 """Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 31910.0 protein-coding gene gene with protein product 613562 Standard NM_001004310 NM_001004310 Approved IFGP6, FLJ16056, FcRH6 uc001fud.4 Q6DN72 OTTHUMG00000035351 ENST00000368106.3:c.252T>C 1.__UNKNOWN__:g.159778167T>C A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1 __UNKNOWN__ CCDS30912.1 FCRL6-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000276853.1 + ENST00000368106.3 Silent SNP PCPG-TCGA-XG-A823-Normal-SM-5EMNY TIPARP 25976 broad.mit.edu 37 3 156421292 156421292 + Missense_Mutation SNP G G A TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr3:156421292G>A ENST00000461166.1 + 5.0 1915 c.1327G>A c.(1327-1329)Gtc>Atc p.V443I TIPARP_ENST00000486483.1_Missense_Mutation_p.V443I|TIPARP_ENST00000542783.1_Missense_Mutation_p.V443I|TIPARP_ENST00000295924.7_Missense_Mutation_p.V443I NM_001184717.1 NP_001171646.1 Q7Z3E1 PARPT_HUMAN TCDD-inducible poly(ADP-ribose) polymerase 443.0 androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570) nucleus (GO:0005634) enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950) NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23.0 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CCCAGATGGGGTCACTTCAGC 0.448 Ovarian(171;276 1987 3319 6837 11197) 0 93.0 93.0 93.0 3 156421292.0 2203.0 4300.0 6503.0 SO:0001583 missense BX537965 CCDS3177.1 3q25.31 2011-06-22 ENSG00000163659 ENSG00000163659 25976.0 25976.0 """Poly (ADP-ribose) polymerases""" 23696.0 protein-coding gene gene with protein product 612480 12851707 Standard NM_015508 NM_001184717 Approved DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1 uc021xgg.1 Q7Z3E1 OTTHUMG00000158646 ENST00000461166.1:c.1327G>A 3.__UNKNOWN__:g.156421292G>A ENSP00000420612:p.Val443Ile D3DNK6|Q68CY9|Q86VP4|Q9Y4P7 __UNKNOWN__ CCDS3177.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 13.66|13.66 2.302809|2.302809 0.40795|0.40795 .|. .|. ENSG00000163659|ENSG00000163659 ENST00000495891|ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783 T|T;T;T;T;T;T 0.13901|0.23950 2.55|2.9;2.9;2.9;1.88;2.9;2.9 5.35|5.35 4.48|4.48 0.54585|0.54585 .|. .|0.183659 .|0.48767 .|D .|0.000174 T|T 0.15219|0.15219 0.0367|0.0367 N|N 0.16478|0.16478 0.41|0.41 0.35916|0.35916 D|D 0.831477|0.831477 .|B .|0.18863 .|0.031 .|B .|0.10450 .|0.005 T|T 0.13019|0.13019 -1.0525|-1.0525 7|10 0.12430|0.31617 T|T 0.62|0.26 .|. 9.968|9.968 0.41736|0.41736 0.1565:0.0:0.8435:0.0|0.1565:0.0:0.8435:0.0 .|. .|443 .|Q7Z3E1 .|PARPT_HUMAN D|I 145|443 ENSP00000420141:G145D|ENSP00000418757:V443I;ENSP00000295924:V443I;ENSP00000420612:V443I;ENSP00000419982:V443I;ENSP00000418829:V443I;ENSP00000438345:V443I ENSP00000420141:G145D|ENSP00000295924:V443I G|V +|+ 2|1 0|0 TIPARP|TIPARP 157903986|157903986 0.997000|0.997000 0.39634|0.39634 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 2.796000|2.796000 0.47869|0.47869 1.259000|1.259000 0.44117|0.44117 0.585000|0.585000 0.79938|0.79938 GGT|GTC TIPARP-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351618.1 + ENST00000461166.1 Missense_Mutation SNP PCPG-TCGA-XG-A823-Normal-SM-5EMNY SESN1 27244 broad.mit.edu 37 6 109315808 109315808 + Missense_Mutation SNP C C G TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr6:109315808C>G ENST00000436639.2 - 6.0 1722 c.977G>C c.(976-978)aGt>aCt p.S326T SESN1_ENST00000302071.2_Missense_Mutation_p.S201T|SESN1_ENST00000356644.7_Missense_Mutation_p.S267T NM_014454.2 NP_055269.1 Q9Y6P5 SESN1_HUMAN sestrin 1 267.0 cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031) nucleus (GO:0005634) cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 10.0 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) GAAAGAATCACTTACCTGAAG 0.343 0 72.0 59.0 64.0 6 109315808.0 2203.0 4300.0 6503.0 SO:0001583 missense AF033120 CCDS5070.1, CCDS56444.1, CCDS56445.1 6q21 2008-10-23 ENSG00000080546 ENSG00000080546 27244.0 27244.0 21595.0 protein-coding gene gene with protein product 606103 9926927, 7938006 Standard NM_014454 NM_014454 Approved SEST1, PA26 uc003psu.3 Q9Y6P5 OTTHUMG00000015338 ENST00000436639.2:c.977G>C 6.__UNKNOWN__:g.109315808C>G ENSP00000393762:p.Ser326Thr Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6 __UNKNOWN__ CCDS5070.1 . . . . . . . . . . C 8.811 0.935203 0.18206 . . ENSG00000080546 ENST00000436639;ENST00000302071;ENST00000356644 T;T;T 0.24723 1.84;1.84;1.84 5.7 3.76 0.43208 . 0.062440 0.64402 D 0.000003 T 0.04634 0.0126 N 0.03948 -0.315 0.38353 D 0.944395 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.001 T 0.22765 -1.0207 10 0.13470 T 0.59 -42.5471 14.7894 0.69827 0.0:0.6543:0.3457:0.0 . 326;267 Q9Y6P5-2;Q9Y6P5 .;SESN1_HUMAN T 326;201;267 ENSP00000393762:S326T;ENSP00000306734:S201T;ENSP00000349061:S267T ENSP00000306734:S201T S - 2 0 SESN1 109422501 0.995000 0.38212 1.000000 0.80357 0.856000 0.48823 1.583000 0.36579 2.675000 0.91044 0.591000 0.81541 AGT SESN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041737.2 - ENST00000436639.2 Missense_Mutation SNP PCPG-TCGA-XG-A823-Normal-SM-5EMNY KANSL1 284058 broad.mit.edu 37 17 44248901 44248901 + Silent SNP C C T TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr17:44248901C>T ENST00000575318.1 - 1.0 642 c.609G>A c.(607-609)ggG>ggA p.G203G KANSL1_ENST00000262419.6_Silent_p.G203G|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Silent_p.G203G|KANSL1_ENST00000432791.1_Silent_p.G203G|KANSL1_ENST00000572904.1_Silent_p.G203G Q7Z3B3 KANL1_HUMAN KAT8 regulatory NSL complex subunit 1 203.0 chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982) histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) TGGTCATACCCCCCTTCAAGT 0.453 0 121.0 158.0 145.0 17 44248901.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant BX538006 CCDS11503.1, CCDS11503.2, CCDS74084.1 17q21.31 2012-02-20 2012-02-20 2012-02-20 ENSG00000120071 ENSG00000120071 284058.0 284058.0 24565.0 protein-coding gene gene with protein product """centromere protein 36""" 612452 """KIAA1267""" KIAA1267 10574462 Standard NM_015443 NM_015443 Approved DKFZP727C091, MSL1v1, CENP-36, NSL1 uc002ikd.3 Q7Z3B3 ENST00000575318.1:c.609G>A 17.__UNKNOWN__:g.44248901C>T A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3 __UNKNOWN__ KANSL1-006 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000440272.1 - ENST00000575318.1 Silent SNP PCPG-TCGA-XG-A823-Normal-SM-5EMNY FCRL3 115352 broad.mit.edu 37 1 157665168 157665168 + Missense_Mutation SNP G G T TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr1:157665168G>T ENST00000368184.3 - 8.0 1653 c.1362C>A c.(1360-1362)gaC>gaA p.D454E FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.D454E|RP11-367J7.3_ENST00000453692.1_RNA NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 454.0 Ig-like C2-type 5. integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69.0 all_hematologic(112;0.0378) CCAGGCCATTGTCTGCATCAC 0.532 0 159.0 156.0 157.0 1 157665168.0 2203.0 4300.0 6503.0 SO:0001583 missense AF459027 CCDS1167.1 1q21-q22 2013-01-11 ENSG00000160856 ENSG00000160856 115352.0 115352.0 """CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 18506.0 protein-coding gene gene with protein product 606510 11493702, 12014205 Standard NM_052939 XR_241065 Approved FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c uc001frb.3 Q96P31 OTTHUMG00000019400 ENST00000368184.3:c.1362C>A 1.__UNKNOWN__:g.157665168G>T ENSP00000357167:p.Asp454Glu A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30 __UNKNOWN__ CCDS1167.1 . . . . . . . . . . . 16.32 3.090523 0.55968 . . ENSG00000160856 ENST00000368186;ENST00000368184;ENST00000292392 T;T 0.03181 4.02;4.02 5.17 0.743 0.18347 Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.423027 0.19998 N 0.101410 T 0.03220 0.0094 L 0.52011 1.625 0.21445 N 0.999688 D;B;D 0.58970 0.972;0.217;0.984 D;P;P 0.64144 0.922;0.573;0.891 T 0.37619 -0.9698 10 0.46703 T 0.11 . 3.6141 0.08071 0.0896:0.3109:0.4397:0.1597 . 454;359;454 Q96P31;D3DVD1;Q96P31-6 FCRL3_HUMAN;.;. E 454 ENSP00000357169:D454E;ENSP00000357167:D454E ENSP00000292392:D454E D - 3 2 FCRL3 155931792 0.513000 0.26194 0.901000 0.35422 0.435000 0.31806 0.026000 0.13599 0.151000 0.19162 -0.244000 0.11960 GAC FCRL3-006 NOVEL alternative_3_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051419.2 - ENST00000368184.3 Missense_Mutation SNP PCPG-TCGA-XG-A823-Normal-SM-5EMNY FANCM 57697 broad.mit.edu 37 14 45650703 45650703 + Silent SNP A A G TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr14:45650703A>G ENST00000542564.2 + 14.0 4293 c.4215A>G c.(4213-4215)aaA>aaG p.K1405K FANCM_ENST00000267430.5_Silent_p.K1431K|FANCM_ENST00000555013.1_3'UTR Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1431.0 DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712) FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518) 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) 85.0 AAAGAGCAAAAGGAAATGTTT 0.308 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 0 67.0 75.0 72.0 14 45650703.0 2203.0 4297.0 6500.0 SO:0001819 synonymous_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) AK001672 CCDS32070.1 14q21.3 2014-09-17 2005-09-01 2005-09-01 ENSG00000187790 57697.0 57697.0 """Fanconi anemia, complementation groups""" 23168.0 protein-coding gene gene with protein product 609644 """KIAA1596""" KIAA1596 10997877, 16116422 Standard XM_048128 NM_020937 Approved FAAP250 uc001wwd.4 Q8IYD8 ENST00000542564.2:c.4215A>G 14.__UNKNOWN__:g.45650703A>G B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6 __UNKNOWN__ . . . . . . . . . . A 6.098 0.386372 0.11524 . . ENSG00000187790 ENST00000554809 . . . 5.25 2.89 0.33648 . . . . . T 0.54481 0.1861 . . . 0.80722 D 1 . . . . . . T 0.48681 -0.9014 4 . . . . 6.1133 0.20112 0.7219:0.0:0.2781:0.0 . . . . G 364 . . R + 1 2 FANCM 44720453 0.988000 0.35896 0.941000 0.38009 0.644000 0.38419 2.478000 0.45189 0.941000 0.37499 0.383000 0.25322 AGG FANCM-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000410475.1 + ENST00000542564.2 Silent SNP PCPG-TCGA-XG-A823-Normal-SM-5EMNY OR6C6 283365 broad.mit.edu 37 12 55688981 55688981 + Silent SNP G G C TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr12:55688981G>C ENST00000358433.2 - 1.0 35 c.36C>G c.(34-36)ctC>ctG p.L12L NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 12.0 integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20.0 TCAATCCTAGGAGAATGAACT 0.333 0 102.0 101.0 101.0 12 55688981.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant CCDS31817.1 12q13.13 2012-08-09 ENSG00000188324 ENSG00000188324 283365.0 283365.0 """GPCR / Class A : Olfactory receptors""" 31293.0 protein-coding gene gene with protein product Standard NM_001005493 Approved uc010sph.2 A6NF89 OTTHUMG00000168101 ENST00000358433.2:c.36C>G 12.__UNKNOWN__:g.55688981G>C __UNKNOWN__ CCDS31817.1 OR6C6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398151.1 - ENST00000358433.2 Silent SNP PCPG-TCGA-XG-A823-Normal-SM-5EMNY TTLL8 164714 broad.mit.edu 37 22 50483807 50483807 + Missense_Mutation SNP G G A TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr22:50483807G>A ENST00000266182.6 - 6.0 519 c.520C>T c.(520-522)Cgc>Tgc p.R174C TTLL8_ENST00000440475.1_Missense_Mutation_p.R174C A6PVC2 TTLL8_HUMAN tubulin tyrosine ligase-like family, member 8 210.0 cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094) axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630) protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736) NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12.0 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) GCCATGGTGCGCCGGAAGTCT 0.657 g 1.0 0.0005 2184.0 0.9994 , , 0.0004 0.0013 0.0008 0.6259 EXOME 0.0005 SNP 0 CYS/ARG 1,4349 0,1,2174 49.0 55.0 53.0 610 2.9 1.0 22 53.0 14,8524 0,14,4255 no missense TTLL8 XM_003403494.1 180 0,15,6429 AA,AG,GG 0.164,0.023,0.1164 probably-damaging 204/841 50483807.0 15,12873 2175.0 4269.0 6444.0 SO:0001583 missense 22q13.33 2013-02-14 ENSG00000138892 ENSG00000138892 164714.0 164714.0 """Tubulin tyrosine ligase-like family""" 34000.0 protein-coding gene gene with protein product 15890843 Standard NM_001080447 XM_003403745 Approved A6PVC2 OTTHUMG00000150241 ENST00000266182.6:c.520C>T 22.__UNKNOWN__:g.50483807G>A ENSP00000266182:p.Arg174Cys B5MDV0 __UNKNOWN__ 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 g 14.48 2.546934 0.45383 2.3E-4 0.00164 ENSG00000138892 ENST00000266182;ENST00000440475;ENST00000433387 T;T;T 0.04809 3.55;3.67;3.67 5.14 2.91 0.33838 . 0.390084 0.20935 N 0.083040 T 0.08891 0.0220 M 0.66939 2.045 0.34867 D 0.743175 D 0.76494 0.999 P 0.51806 0.68 T 0.24548 -1.0157 10 0.39692 T 0.17 . 3.51 0.07704 0.0935:0.1661:0.5692:0.1713 . 174 B5MDV0 . C 174;174;210 ENSP00000266182:R174C;ENSP00000387509:R174C;ENSP00000392252:R210C ENSP00000266182:R174C R - 1 0 TTLL8 48825934 0.997000 0.39634 0.998000 0.56505 0.312000 0.27988 1.428000 0.34892 1.163000 0.42636 0.394000 0.25966 CGC TTLL8-201 KNOWN basic|appris_candidate_longest protein_coding protein_coding - ENST00000266182.6 Missense_Mutation SNP PCPG-TCGA-XG-A823-Normal-SM-5EMNY ANKFN1 162282 broad.mit.edu 37 17 54559863 54559863 + Silent SNP C C T TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr17:54559863C>T ENST00000566473.2 + 17.0 2247 c.2247C>T c.(2245-2247)ctC>ctT p.L749L ANKFN1_ENST00000318698.2_Silent_p.L749L Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 749.0 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53.0 TTCTTAACCTCCCTCTTCAGA 0.438 0 173.0 164.0 167.0 17 54559863.0 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant AK095654 CCDS32686.1 17q23.2 2014-02-12 2005-11-15 ENSG00000153930 ENSG00000153930 162282.0 162282.0 """Ankyrin repeat domain containing"", ""Fibronectin type III domain containing""" 26766.0 protein-coding gene gene with protein product Standard NM_153228 NM_153228 Approved FLJ38335 uc002iun.1 Q8N957 OTTHUMG00000155010 ENST00000566473.2:c.2247C>T 17.__UNKNOWN__:g.54559863C>T __UNKNOWN__ ANKFN1-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000435456.2 + ENST00000566473.2 Silent SNP PCPG-TCGA-XG-A823-Normal-SM-5EMNY FEZ1 9638 broad.mit.edu 37 11 125359671 125359671 + Translation_Start_Site SNP C C T TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr11:125359671C>T ENST00000278919.3 - 2.0 237 c.3G>A c.(1-3)atG>atA p.M1I FEZ1_ENST00000366139.3_Start_Codon_SNP_p.M1I|FEZ1_ENST00000524435.1_Start_Codon_SNP_p.M1I NM_005103.4 NP_005094.1 Q99689 FEZ1_HUMAN fasciculation and elongation protein zeta 1 (zygin I) 1.0 axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810) axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 24.0 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) GTGGGGCCTCCATTCTTGCTC 0.478 Melanoma(180;509 2033 10762 15939 24711) 0 56.0 58.0 57.0 11 125359671.0 2201.0 4299.0 6500.0 SO:0001582 initiator_codon_variant U60060 CCDS31716.1, CCDS44758.1 11q24.2 2005-09-29 ENSG00000149557 ENSG00000149557 9638.0 9638.0 3659.0 protein-coding gene gene with protein product 604825 9096408, 15843383 Standard NM_005103 NM_005103 Approved uc001qbx.3 Q99689 OTTHUMG00000165886 ENST00000278919.3:c.3G>A 11.__UNKNOWN__:g.125359671C>T ENSP00000278919:p.Met1Ile O00679|O00728|Q6IBI7 __UNKNOWN__ CCDS31716.1 . . . . . . . . . . C 34 5.374884 0.95923 . . ENSG00000149557 ENST00000278919;ENST00000529053;ENST00000366139;ENST00000524435;ENST00000527534 T 0.35236 1.32 5.62 5.62 0.85841 . 0.000000 0.85682 D 0.000000 T 0.63450 0.2512 . . . 0.80722 D 1 D;P 0.63880 0.993;0.924 D;P 0.70227 0.968;0.878 T 0.66118 -0.6003 9 0.72032 D 0.01 . 19.2535 0.93935 0.0:1.0:0.0:0.0 . 1;1 B4DKG5;Q99689 .;FEZ1_HUMAN I 1 ENSP00000278919:M1I ENSP00000278919:M1I M - 3 0 FEZ1 124864881 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 7.339000 0.79282 2.646000 0.89796 0.655000 0.94253 ATG FEZ1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000386875.1 Missense_Mutation - ENST00000278919.3 Start_Codon_SNP SNP PCPG-TCGA-XG-A823-Normal-SM-5EMNY TYW1 55253 broad.mit.edu 37 7 66479502 66479502 + Missense_Mutation SNP C C T TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr7:66479502C>T ENST00000359626.5 + 5.0 688 c.524C>T c.(523-525)gCg>gTg p.A175V NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 175.0 Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}. tRNA processing (GO:0008033) cytoplasm (GO:0005737)|nucleus (GO:0005634) 4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491) breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46.0 Lung NSC(55;0.0846)|all_lung(88;0.183) ATGAGATATGCGGTATTTGGC 0.423 0 216.0 194.0 201.0 7 66479502.0 2203.0 4300.0 6503.0 SO:0001583 missense AK001762 CCDS5538.1 7q11.21 2007-11-29 2007-11-29 2007-11-29 ENSG00000198874 ENSG00000198874 55253.0 55253.0 25598.0 protein-coding gene gene with protein product """tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)""" 611243 """radical S-adenosyl methionine and flavodoxin domains 1""" RSAFD1 16162496, 17150819 Standard NM_018264 NM_018264 Approved FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A uc003tvn.4 Q9NV66 OTTHUMG00000129723 ENST00000359626.5:c.524C>T 7.__UNKNOWN__:g.66479502C>T ENSP00000352645:p.Ala175Val Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4 __UNKNOWN__ CCDS5538.1 . . . . . . . . . . C 22.4 4.287305 0.80803 . . ENSG00000198874 ENST00000359626 T 0.78595 -1.19 4.8 4.8 0.61643 Flavodoxin/nitric oxide synthase (2); 0.000000 0.85682 U 0.000000 D 0.87585 0.6214 M 0.79614 2.46 0.80722 D 1 D 0.89917 1.0 D 0.74023 0.982 D 0.89163 0.3531 10 0.72032 D 0.01 . 15.7606 0.78076 0.0:1.0:0.0:0.0 . 175 Q9NV66 TYW1_HUMAN V 175 ENSP00000352645:A175V ENSP00000352645:A175V A + 2 0 TYW1 66116937 1.000000 0.71417 0.384000 0.26145 0.631000 0.37964 7.034000 0.76511 2.394000 0.81467 0.456000 0.33151 GCG TYW1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251932.2 + ENST00000359626.5 Missense_Mutation SNP PCPG-TCGA-XG-A823-Normal-SM-5EMNY KMT2D 8085 broad.mit.edu 37 12 49418672 49418672 + Missense_Mutation SNP A A C TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr12:49418672A>C ENST00000301067.7 - 49.0 15841 c.15842T>G c.(15841-15843)cTg>cGg p.L5281R NM_003482.3 NP_003473.3 O14686 KMT2D_HUMAN lysine (K)-specific methyltransferase 2D 5281.0 FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}. chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270) GAAGAGTCGCAGCATGTCAGC 0.557 0 20.0 22.0 21.0 12 49418672.0 2064.0 4191.0 6255.0 SO:0001583 missense AF010403 CCDS44873.1 12q13.12 2013-05-09 2013-05-09 2013-05-09 ENSG00000167548 ENSG00000167548 8085.0 8085.0 """Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type""" 7133.0 protein-coding gene gene with protein product 602113 """trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2""" TNRC21, MLL2 9247308 Standard NM_003482 Approved ALR, MLL4, CAGL114 O14686 OTTHUMG00000166524 ENST00000301067.7:c.15842T>G 12.__UNKNOWN__:g.49418672A>C ENSP00000301067:p.Leu5281Arg O14687 __UNKNOWN__ CCDS44873.1 . . . . . . . . . . A 15.44 2.833490 0.50951 . . ENSG00000167548 ENST00000301067 T 0.46819 0.86 5.38 5.38 0.77491 FY-rich, C-terminal (1);FY-rich, C-terminal subgroup (1); 0.000000 0.28482 N 0.015197 T 0.68604 0.3019 M 0.75085 2.285 0.58432 D 0.999999 D 0.89917 1.0 D 0.97110 1.0 T 0.72721 -0.4208 10 0.87932 D 0 . 14.6879 0.69062 1.0:0.0:0.0:0.0 . 5281 O14686 MLL2_HUMAN R 5281 ENSP00000301067:L5281R ENSP00000301067:L5281R L - 2 0 MLL2 47704939 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.339000 0.96797 2.178000 0.69098 0.533000 0.62120 CTG KMT2D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390183.2 - ENST00000301067.7 Missense_Mutation SNP PCPG-TCGA-XG-A823-Normal-SM-5EMNY ENOX2 10495 broad.mit.edu 37 X 129759353 129759353 + Missense_Mutation SNP C C G TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chrX:129759353C>G ENST00000370935.1 - 14.0 1952 c.1681G>C c.(1681-1683)Gga>Cga p.G561R ENOX2_ENST00000338144.3_Missense_Mutation_p.G590R|ENOX2_ENST00000370927.1_Missense_Mutation_p.G590R|ENOX2_ENST00000394363.1_Missense_Mutation_p.G561R NM_001281736.1 NP_001268665.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 590.0 cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624) cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576) nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33.0 GCTCCAACTCCAGTCATTTCC 0.483 Ovarian(101;828 1506 2951 9500 35258) 0 116.0 89.0 98.0 X 129759353.0 2203.0 4300.0 6503.0 SO:0001583 missense AF207881 CCDS14626.1, CCDS14627.1 Xq25 2013-02-12 2007-03-23 2007-03-23 ENSG00000165675 ENSG00000165675 10495.0 10495.0 """RNA binding motif (RRM) containing""" 2259.0 protein-coding gene gene with protein product 300282 """cytosolic ovarian carcinoma antigen 1""" COVA1 8150545, 11888291 Standard NM_182314 NM_006375 Approved APK1, tNOX uc004evw.3 Q16206 OTTHUMG00000022401 ENST00000370935.1:c.1681G>C X.__UNKNOWN__:g.129759353C>G ENSP00000359973:p.Gly561Arg A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82 __UNKNOWN__ CCDS14627.1 . . . . . . . . . . C 21.3 4.122623 0.77436 . . ENSG00000165675 ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927 . . . 4.98 4.98 0.66077 . 0.000000 0.85682 D 0.000000 T 0.76737 0.4029 M 0.72118 2.19 0.58432 D 0.99999 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 T 0.79145 -0.1924 9 0.87932 D 0 -16.7752 12.5197 0.56052 0.0:1.0:0.0:0.0 . 590;618 Q16206;A4QPE1 ENOX2_HUMAN;. R 561;590;561;618;590 . ENSP00000337146:G590R G - 1 0 ENOX2 129587034 1.000000 0.71417 0.974000 0.42286 0.997000 0.91878 6.779000 0.75057 2.447000 0.82792 0.538000 0.68166 GGA ENOX2-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058276.1 - ENST00000370935.1 Missense_Mutation SNP PCPG-TCGA-XG-A823-Normal-SM-5EMNY COL6A3 1293 bcgsc.ca 37 2 238296406 238296406 + Silent SNP G G A TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr2:238296406G>A ENST00000295550.4 - 4.0 1583 c.1131C>T c.(1129-1131)ttC>ttT p.F377F COL6A3_ENST00000346358.4_Silent_p.F377F|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000353578.4_Silent_p.F171F|COL6A3_ENST00000392004.3_Silent_p.F171F|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Silent_p.F171F|COL6A3_ENST00000347401.3_Intron NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 377.0 Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}. axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749) collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982) serine-type endopeptidase inhibitor activity (GO:0004867) 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) 217.0 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) CTCCAAGGCCGAATGAGAACA 0.582 G 1.0 0.0005 0.002 2184.0 1.0 , , 0.0003 0.0005 1.0 LOWCOV,EXOME 0.0008 SNP 0 G ,,,, 4,4402 8.1+/-20.4 0,4,2199 54.0 53.0 54.0 1131,,513,,513 0.2 0.4 2 54.0 0,8600 0,0,4300 no coding-synonymous,intron,coding-synonymous,intron,coding-synonymous COL6A3 NM_004369.3,NM_057164.4,NM_057165.4,NM_057166.4,NM_057167.3 ,,,, 0,4,6499 AA,AG,GG 0.0,0.0908,0.0308 ,,,, 377/3178,,171/1238,,171/2972 238296406.0 4,13002 2203.0 4300.0 6503.0 SO:0001819 synonymous_variant X52022 CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1 2q37 2014-09-17 ENSG00000163359 ENSG00000163359 1293.0 1293.0 """Collagens""" 2213.0 protein-coding gene gene with protein product 120250 1339440, 11992252 Standard NM_004369 NM_004369 Approved uc002vwl.2 P12111 OTTHUMG00000150020 ENST00000295550.4:c.1131C>T 2.__UNKNOWN__:g.238296406G>A A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6 __UNKNOWN__ CCDS33412.1 COL6A3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000315790.2 - ENST00000295550.4 Silent SNP PCPG-TCGA-XG-A823-Normal-SM-5EMNY Unknown 27093 bcgsc.ca 37 22 17061841 17061841 + RNA SNP G G T TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr22:17061841G>T KB-67B5.17 (53714 upstream) : KCNMB3P1 (125 downstream) CTACTGCACAGTTTGAACTGA 0.428 0 SO:0001628 intergenic_variant 22.__UNKNOWN__:g.17061841G>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-XG-A823-Normal-SM-5EMNY Unknown 0 bcgsc.ca 37 1 13141620 13141620 + RNA SNP G G T TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 G - - - - - Unknown Untested Somatic Phase_1 WXS none Illumina HiSeq bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr1:13141620G>T PRAMEF6 (23869 upstream) : RP13-221M14.2 (5156 downstream) GCTGAATTCAGCTCTGTGCTC 0.507 0 SO:0001628 intergenic_variant 1.__UNKNOWN__:g.13141620G>T __UNKNOWN__ 0.0 IGR SNP PCPG-TCGA-XG-A823-Normal-SM-5EMNY PPP1R2 5504 ucsc.edu 37 3 195243742 195243742 + Splice_Site SNP T T C TCGA-XG-A823-01A-11D-A35I-08 TCGA-XG-A823-10A-01D-A35G-08 T T Unknown Untested Somatic WXS none Illumina HiSeq bc26cf35-440d-4367-b876-3284a7b2c268 192ad1c4-a0ee-4beb-9edf-86085f1b1356 g.chr3:195243742T>C ENST00000328432.3 - 6.0 932 c.e6-2 NM_006241.4 NP_006232.1 P41236 IPP2_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 2 generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966) protein serine/threonine phosphatase inhibitor activity (GO:0004865) endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2) 6.0 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;9.55e-05) GAGTAGATCCTGCAAAGATAA 0.338 0 130.0 124.0 126.0 3 195243742.0 2202.0 4300.0 6502.0 SO:0001630 splice_region_variant U68111 CCDS3309.1 3q29 2012-04-17 ENSG00000184203 ENSG00000184203 5504.0 5504.0 3.1.3.16 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 9288.0 protein-coding gene gene with protein product 601792 9126490, 8119416 Standard NM_006241 XM_006713682 Approved IPP2 uc003fup.3 P41236 OTTHUMG00000155887 ENST00000328432.3:c.572-2A>G 3.__UNKNOWN__:g.195243742T>C __UNKNOWN__ CCDS3309.1 . . . . . . . . . . T 17.18 3.322641 0.60634 . . ENSG00000184203 ENST00000328432;ENST00000438848 . . . 5.86 5.86 0.93980 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 12.9413 0.58345 0.0:0.0:0.0:1.0 . . . . . -1 . . . - . . PPP1R2 196725031 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 3.978000 0.56881 2.367000 0.80283 0.528000 0.53228 . PPP1R2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000342133.1 Intron - ENST00000328432.3 Splice_Site SNP PCPG-TCGA-XG-A823-Normal-SM-5EMNY